BLM
MCID: BLM001
MIFTS: 63

Bloom Syndrome (BLM)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bloom Syndrome

MalaCards integrated aliases for Bloom Syndrome:

Name: Bloom Syndrome 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
Bloom-Torre-Machacek Syndrome 12 54 26
Bls 58 54 76
Blm 58 54 76
Bs 58 54 76
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1 58 76
Congenital Telangiectatic Erythema 54 26
Mgrisce1 58 76
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 54
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1; Mgrisce1 58
Congenital Telangiectatic Erythema Syndrome 12
Bloom's Syndrome 26
Bs; Bls 58
Bsyn 60

Characteristics:

Orphanet epidemiological data:

60
bloom syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
life-threatening infections
predisposition to neoplasia


HPO:

33
bloom syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bloom Syndrome

NIH Rare Diseases : 54 Bloom syndrome is a disorder characterized by a significantly increased risk of cancer and various other features. Signs and symptoms include short stature; sun-sensitive skin changes on the face, hands and/or arms; a high-pitched voice; and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears. Some affected individuals may also have learning disabilities; an increased risk of diabetes; chronic obstructive pulmonary disease (COPD); and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Cancers may include any of those found in the general population, but develop much earlier in life in affected individuals. It is caused by mutations in the BLM gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.

MalaCards based summary : Bloom Syndrome, also known as bloom-torre-machacek syndrome, is related to adermatoglyphia and baller-gerold syndrome. An important gene associated with Bloom Syndrome is BLM (BLM RecQ Like Helicase), and among its related pathways/superpathways are Homologous recombination and Fanconi anemia pathway. Affiliated tissues include skin, lung and breast, and related phenotypes are malar flattening and recurrent respiratory infections

Disease Ontology : 12 An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.

Genetics Home Reference : 26 Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.

OMIM : 58 Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability. (210900)

UniProtKB/Swiss-Prot : 76 Bloom syndrome: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.

Wikipedia : 77 Bloom syndrome (often abbreviated as BS in literature), also known as Bloom-Torre-Machacek syndrome, is... more...

GeneReviews: NBK1398

Related Diseases for Bloom Syndrome

Diseases related to Bloom Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 179, show less)
# Related Disease Score Top Affiliating Genes
1 adermatoglyphia 32.2 BLM WRN
2 baller-gerold syndrome 29.2 RECQL RECQL4 RECQL5 WRN
3 fanconi anemia, complementation group a 29.0 ATM BLM FANCM FEN1 HELLS RAD51
4 rothmund-thomson syndrome 28.7 BLM HELLS RECQL RECQL4 RECQL5 WRN
5 werner syndrome 28.6 BLM FEN1 HELLS RECQL RECQL4 RECQL5
6 xeroderma pigmentosum, variant type 28.6 ATM FEN1 HELLS LIG1 RAD51 RECQL
7 bare lymphocyte syndrome, type ii 12.1
8 bare lymphocyte syndrome, type i 11.9
9 microcephaly, growth restriction, and increased sister chromatid exchange 2 11.6
10 nijmegen breakage syndrome 11.4
11 hypocalcemia, autosomal dominant 1 11.4
12 blind loop syndrome 11.3
13 leber congenital amaurosis 2 11.2
14 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.1
15 adamantinoma of long bones 11.1
16 acrocallosal syndrome 10.3
17 pulmonary fibrosis 10.3
18 lymphoma 10.3
19 melanoma 10.3
20 lymphosarcoma 10.3
21 disorganization, mouse, homolog of 10.3
22 spindle cell hemangioma 10.3
23 spondylosis 10.2 HELLS WRN
24 ataxia-telangiectasia 10.2
25 hepatitis 10.2
26 prostate cancer 10.1
27 fanconi anemia, complementation group c 10.1
28 prostate cancer, hereditary, 8 10.1
29 prostate cancer, hereditary, 6 10.1
30 fanconi anemia, complementation group q 10.1 FANCM RAD51
31 wilms tumor 5 10.1
32 wilms tumor 6 10.1
33 leukemia 10.1
34 autoimmune disease 10.1
35 diffuse large b-cell lymphoma 10.1
36 endophthalmitis 10.1
37 fanconi anemia, complementation group t 10.1 FANCM RAD51
38 dwarfism 10.1
39 fanconi anemia, complementation group d2 10.1
40 deficiency anemia 10.1
41 bilateral breast cancer 10.1 ATM RAD51
42 fanconi anemia, complementation group r 10.0 FANCM RAD51 WRN
43 congenital hypoplastic anemia 10.0 FANCM RAD51
44 breast cancer 10.0
45 colorectal cancer 10.0
46 ovarian cancer 10.0
47 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
48 gastric cancer 10.0
49 myelodysplastic syndrome 10.0
50 telangiectasis 10.0
51 rheumatoid arthritis 10.0
52 human immunodeficiency virus type 1 10.0
53 nevus comedonicus 10.0
54 arthritis 10.0
55 familial adenomatous polyposis 10.0
56 lepromatous leprosy 10.0
57 spondyloenchondrodysplasia 10.0
58 yemenite deaf-blind hypopigmentation syndrome 10.0
59 newcastle disease 10.0
60 vaccinia 10.0
61 porokeratosis 1, multiple types 9.9
62 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
63 adult t-cell leukemia 9.9
64 autosomal recessive disease 9.9
65 norwegian scabies 9.9
66 hypogonadism 9.9
67 cockayne syndrome 9.9
68 porokeratosis 9.9
69 t-cell leukemia 9.9
70 hypogonadotropism 9.9
71 scabies 9.9
72 suppressor of tumorigenicity 3 9.9
73 lymphoma, hodgkin, classic 9.9
74 neuroblastoma 1 9.9
75 lymphoma, non-hodgkin, familial 9.9
76 fanconi anemia, complementation group i 9.9
77 fanconi anemia, complementation group j 9.9
78 pachyonychia congenita 3 9.9
79 cataract 9.9
80 adenoid cystic carcinoma 9.9
81 allergic hypersensitivity disease 9.9
82 rhabdomyosarcoma 9.9
83 influenza 9.9
84 isolated optic neuritis 9.9
85 alzheimer disease 9.8
86 burkitt lymphoma 9.8
87 hepatocellular carcinoma 9.8
88 dubowitz syndrome 9.8
89 lecithin:cholesterol acyltransferase deficiency 9.8
90 ataxia and polyneuropathy, adult-onset 9.8
91 aging 9.8
92 basal cell carcinoma 1 9.8
93 spondyloocular syndrome 9.8
94 leukemia, acute lymphoblastic 9.8
95 acute leukemia 9.8
96 lymphocytic leukemia 9.8
97 squamous cell carcinoma 9.8
98 basal cell carcinoma 9.8
99 adenocarcinoma 9.8
100 cardiac conduction defect 9.8
101 popliteal pterygium syndrome 9.8
102 multiple sclerosis 9.8
103 lichen sclerosus et atrophicus 9.8
104 osteoporosis 9.8
105 premature chromatid separation trait 9.8
106 retinoblastoma 9.8
107 tetralogy of fallot 9.8
108 salla disease 9.8
109 welander distal myopathy 9.8
110 tropical calcific pancreatitis 9.8
111 membranous nephropathy 9.8
112 congestive heart failure 9.8
113 glomerulonephritis 9.8
114 lymphoid leukemia 9.8
115 spinal stenosis 9.8
116 thrombocytopenia 9.8
117 cardiac arrest 9.8
118 post-cardiac arrest syndrome 9.8
119 borderline leprosy 9.8
120 japanese encephalitis 9.8
121 functional diarrhea 9.8
122 epidural abscess 9.8
123 bronchial disease 9.8
124 diarrhea 9.8
125 epicondylitis 9.8
126 dermatomycosis 9.8
127 secondary syphilis 9.8
128 syphilis 9.8
129 bronchitis 9.8
130 hepatoblastoma 9.8
131 extrinsic allergic alveolitis 9.8
132 amyloidosis 9.8
133 fasciitis 9.8
134 plantar fasciitis 9.8
135 eosinophilia-myalgia syndrome 9.8
136 rere-related disorders 9.8
137 chromosomal triplication 9.8
138 heparin-induced thrombocytopenia 9.8
139 leukemia, chronic lymphocytic 2 9.8
140 blood group, colton system 9.8
141 blood group, kidd system 9.8
142 radin blood group antigen 9.8
143 blood group--wright antigen 9.8
144 femoral-facial syndrome 9.8
145 leukemia, chronic lymphocytic 9.8
146 motion sickness 9.8
147 australia antigen 9.8
148 cystic fibrosis 9.8
149 blood group--swann system 9.8
150 ventricular fibrillation, paroxysmal familial, 1 9.8
151 ovarian cancer 1 9.8
152 myocardial infarction 9.8
153 malaria 9.8
154 blood group, junior system 9.8
155 alcoholic liver cirrhosis 9.8
156 bipolar disorder 9.8
157 pemphigus foliaceus 9.8
158 sinusitis 9.8
159 dengue shock syndrome 9.8
160 brugada syndrome 9.8
161 colitis 9.8
162 inguinal hernia 9.8
163 diphtheria 9.8
164 thyroid cancer 9.8
165 hermansky-pudlak syndrome 9.8
166 biliary dyskinesia 9.8
167 lung disease 9.8
168 herpes simplex 9.8
169 polyarteritis nodosa 9.8
170 hemophilia 9.8
171 bowenoid papulosis 9.8
172 brainstem auditory evoked responses 9.8
173 leukemia, b-cell, chronic 9.8
174 polymyositis 9.8
175 syncope 9.8
176 cardiogenic shock 9.8
177 acquired generalized lipodystrophy 9.8 RECQL5 WRN
178 uv-sensitive syndrome 9.8 FEN1 LIG1 RAD51
179 rapadilino syndrome 9.5 HELLS RECQL RECQL4 RECQL5 WRN

Graphical network of the top 20 diseases related to Bloom Syndrome:



Diseases related to Bloom Syndrome

Symptoms & Phenotypes for Bloom Syndrome

Human phenotypes related to Bloom Syndrome:

60 33 (showing 58, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
3 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 sinusitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000246
6 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000268
7 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
8 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008897
9 narrow face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000275
10 abnormality of chromosome stability 60 33 hallmark (90%) Very frequent (99-80%) HP:0003220
11 diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002014
12 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
13 spotty hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005585
14 facial telangiectasia in butterfly midface distribution 60 33 hallmark (90%) Very frequent (99-80%) HP:0005598
15 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
16 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
17 high pitched voice 60 33 frequent (33%) Frequent (79-30%) HP:0001620
18 hypoplasia of the zygomatic bone 33 frequent (33%) HP:0010669
19 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
20 hyperhidrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000975
21 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
22 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
23 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
24 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
25 hypopigmented skin patches 60 33 occasional (7.5%) Occasional (29-5%) HP:0001053
26 hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001161
27 azoospermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000027
28 reduced number of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0009804
29 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
30 lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002665
31 sacral dimple 60 33 occasional (7.5%) Occasional (29-5%) HP:0000960
32 decreased circulating iga level 60 33 occasional (7.5%) Occasional (29-5%) HP:0002720
33 decreased circulating igg level 60 33 occasional (7.5%) Occasional (29-5%) HP:0004315
34 decreased fertility in females 60 33 occasional (7.5%) Occasional (29-5%) HP:0000868
35 decreased circulating total igm 60 33 occasional (7.5%) Occasional (29-5%) HP:0002850
36 squamous cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002860
37 neoplasm of the gastrointestinal tract 60 33 occasional (7.5%) Occasional (29-5%) HP:0007378
38 type ii diabetes mellitus 33 HP:0005978
39 neoplasm 60 Very frequent (99-80%)
40 cryptorchidism 33 HP:0000028
41 specific learning disability 33 HP:0001328
42 decreased antibody level in blood 60 Occasional (29-5%)
43 clinodactyly of the 5th finger 33 HP:0004209
44 telangiectasia of the skin 60 Frequent (79-30%)
45 abnormality of the face 60 Frequent (79-30%)
46 cheekbone underdevelopment 60 Frequent (79-30%)
47 abnormality of the nose 60 Very frequent (99-80%)
48 bronchiectasis 33 HP:0002110
49 prominent nose 33 HP:0000448
50 abnormality of the skin 60 Very frequent (99-80%)
51 cafe-au-lait spot 33 HP:0000957
52 leukemia 33 HP:0001909
53 syndactyly 33 HP:0001159
54 hypertrichosis 33 HP:0000998
55 chronic lung disease 33 HP:0006528
56 spotty hypopigmentation 33 HP:0005590
57 chromosome breakage 33 HP:0040012
58 agenesis of maxillary lateral incisor 33 HP:0000690

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly
dolichocephaly

Neoplasia:
lymphoma
squamous cell carcinoma
leukemia
adenocarcinoma
hypersensitivity to chemotherapy

Head And Neck Nose:
prominent nose

Skeletal Hands:
syndactyly
polydactyly
fifth finger clinodactyly

Head And Neck Ears:
prominent ears

Neurologic Central Nervous System:
learning disability
mild mental retardation in some

Growth Other:
growth failure
prenatal onset growth retardation

Head And Neck Teeth:
absent upper lateral incisors

Voice:
high-pitched

Laboratory Abnormalities:
high sister chromatid exchange (sce) rate
sce normal in heterozygotes
increased chromosomal breakage
decreased iga, igg, igm

Genitourinary Internal Genitalia Male:
cryptorchidism
azoospermia

Respiratory Airways:
bronchiectasis

Skin Nails Hair Skin:
spotty hyperpigmentation
hypertrichosis
spotty hypopigmentation
photosensitivity
cafe-au-lait spots
more
Respiratory Lung:
chronic lung disease

Head And Neck Face:
malar hypoplasia
narrow

Endocrine Features:
noninsulin-dependent diabetes mellitus

Growth Height:
average adult male height 151cm
average adult female height 144cm

Genitourinary Internal Genitalia Female:
reduced fertility in females

Immunology:
immunoglobulin deficiency (iga, igg, igm)
impaired lymphocyte proliferation response to malignancy

Clinical features from OMIM:

210900

GenomeRNAi Phenotypes related to Bloom Syndrome according to GeneCards Suite gene sharing:

27 (showing 33, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.42 ATM HELLS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.42 ATM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.42 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.42 ATM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.42 LIG1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.42 LIG1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.42 LIG3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.42 ATM HELLS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.42 ATM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.42 ATM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.42 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.42 LIG1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.42 LIG3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.42 LIG1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.42 LIG3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.42 ATM LIG3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.42 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.42 ATM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.42 LIG1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.42 HELLS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.42 HELLS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.42 LIG1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.42 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.42 LIG1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.42 ATM
26 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.42 ATM LIG1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.42 LIG1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.42 LIG3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.42 ATM HELLS LIG1 LIG3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-90 10.42 HELLS
31 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 ATM BLM FANCM FEN1 LIG1 LIG3
32 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 ATM BLM FANCM FEN1 LIG1 LIG3
33 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ATM BLM FANCM FEN1 LIG1 LIG3

MGI Mouse Phenotypes related to Bloom Syndrome:

47 (showing 9, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 ATM BLM FANCM FEN1 HELLS LIG1
2 embryo MP:0005380 10.01 ATM BLM FEN1 HELLS LIG1 LIG3
3 growth/size/body region MP:0005378 9.97 ATM BLM FEN1 HELLS LIG1 LIG3
4 endocrine/exocrine gland MP:0005379 9.91 ATM FANCM FEN1 HELLS LIG1 RECQL4
5 hematopoietic system MP:0005397 9.86 ATM BLM FANCM FEN1 HELLS LIG1
6 adipose tissue MP:0005375 9.85 ATM FEN1 HELLS RECQL4 WRN
7 mortality/aging MP:0010768 9.65 ATM BLM FANCM FEN1 HELLS LIG1
8 integument MP:0010771 9.63 ATM BLM HELLS LIG1 RECQL4 WRN
9 neoplasm MP:0002006 9.17 ATM BLM FANCM FEN1 LIG1 RECQL4

Drugs & Therapeutics for Bloom Syndrome

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Biological Significance of the Bloom's Syndrome Protein Completed NCT00021437
2 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817

Search NIH Clinical Center for Bloom Syndrome

Cochrane evidence based reviews: bloom syndrome

Genetic Tests for Bloom Syndrome

Genetic tests related to Bloom Syndrome:

# Genetic test Affiliating Genes
1 Bloom Syndrome 30 BLM

Anatomical Context for Bloom Syndrome

MalaCards organs/tissues related to Bloom Syndrome:

42
Skin, Lung, Breast, Prostate, B Cells, Bone, T Cells

Publications for Bloom Syndrome

Articles related to Bloom Syndrome:

(showing 540, show less)
# Title Authors Year
1
Nuclear immunoreactivity of BLM-s, a proapoptotic BCL-2 family member, is specifically detected in salivary adenoid cystic carcinoma. ( 30261190 )
2019
2
Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge. ( 29794356 )
2019
3
NMR Investigation of the Interaction between the RecQ C-Terminal Domain of Human Bloom Syndrome Protein and G-Quadruplex DNA from the Human c-Myc Promoter. ( 30639410 )
2019
4
Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS. ( 30936263 )
2019
5
BLM can regulate cataract progression by influencing cell vitality and apoptosis. ( 30227115 )
2019
6
Discovery of Isaindigotone Derivatives as Novel Bloom's Syndrome Protein (BLM) Helicase Inhibitors that Disrupt the BLM/DNA Interactions and Regulate the Homologous Recombination Repair. ( 30827110 )
2019
7
Development of a coupled model of quantitative ion character-activity relationships-biotic ligand model (QICARs-BLM) for predicting toxicity for data poor metals. ( 30953979 )
2019
8
miR‑27b‑3p and miR‑607 cooperatively regulate BLM gene expression by directly targeting the 3'‑UTR in PC3 cells. ( 30957187 )
2019
9
Bloom syndrome does not always present with sun-sensitive facial erythema. ( 29056561 )
2018
10
miR-522-3p Promotes Tumorigenesis in Human Colorectal Cancer via Targeting Bloom Syndrome Protein. ( 29386092 )
2018
11
Interaction of replication protein A with two acidic peptides from human Bloom syndrome protein. ( 29388204 )
2018
12
Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families. ( 29610394 )
2018
13
Health supervision for people with Bloom syndrome. ( 30055079 )
2018
14
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. ( 30057030 )
2018
15
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. ( 30193137 )
2018
16
Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria. ( 30410776 )
2018
17
A novel Gallic acid derivative attenuates BLM-induced pulmonary fibrosis in mice. ( 30195109 )
2018
18
Suppression of SMOC2 reduces bleomycin (BLM)-induced pulmonary fibrosis by inhibition of TGF-β1/SMADs pathway. ( 30021376 )
2018
19
Potential role of the Jagged1/Notch1 signaling pathway in the endothelial-myofibroblast transition during BLM-induced pulmonary fibrosis. ( 28776666 )
2018
20
Testing the Underlying Chemical Principles of the Biotic Ligand Model (BLM) to Marine Copper Systems: Measuring Copper Speciation Using Fluorescence Quenching. ( 29273962 )
2018
21
The BLM Helicase: Keeping recombination honest? ( 29278995 )
2018
22
BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes. ( 29348659 )
2018
23
A tri-serine cluster within the topoisomerase IIα-interaction domain of the BLM helicase is required for regulating chromosome breakage in human cells. ( 29385443 )
2018
24
Nanocarrier Composed of Magnetite Core Coated with Three Polymeric Shells Mediates LCS-1 Delivery for Synthetic Lethal Therapy of BLM-Defective Colorectal Cancer Cells. ( 29451980 )
2018
25
Overexpression of BLM promotes DNA damage and increased sensitivity to platinum salts in triple-negative breast and serous ovarian cancers. ( 29452344 )
2018
26
MRN complex-dependent recruitment of ubiquitylated BLM helicase to DSBs negatively regulates DNA repair pathways. ( 29523790 )
2018
27
Establishing Radiological Screening Levels for Defense-related Uranium Mine (DRUM) Sites on BLM Land Using a Recreational Future-use Scenario. ( 29697511 )
2018
28
BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor. ( 30044990 )
2018
29
RUNX Poly(ADP-Ribosyl)ation and BLM Interaction Facilitate the Fanconi Anemia Pathway of DNA Repair. ( 30110632 )
2018
30
Target-induced diffusivity enhancement for rapid and highly sensitive homogeneous electrochemical detection of BLM in human serum. ( 30172539 )
2018
31
HERC2 Facilitates BLM and WRN Helicase Complex Interaction with RPA to Suppress G-Quadruplex DNA. ( 30279242 )
2018
32
BLM prevents instability of structure-forming DNA sequences at common fragile sites. ( 30496191 )
2018
33
Distinct prognosis of mRNA expression of the five RecQ DNA-helicase family members - RECQL, BLM, WRN, RECQL4, and RECQL5 - in patients with breast cancer. ( 30584360 )
2018
34
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2017
35
Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. ( 27966805 )
2017
36
Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction. ( 27989672 )
2017
37
First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis. ( 28611551 )
2017
38
Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein. ( 28792069 )
2017
39
XIST/miR-139 axis regulates bleomycin (BLM)-induced extracellular matrix (ECM) and pulmonary fibrosis through β-catenin. ( 29029436 )
2017
40
Asiatic acid ameliorates pulmonary fibrosis induced by bleomycin (BLM) via suppressing pro-fibrotic and inflammatory signaling pathways. ( 28320097 )
2017
41
Potential of the Biotic Ligand Model (BLM) to Predict Copper Toxicity in the White-Water of the Solimões-Amazon River. ( 27888328 )
2017
42
Measuring Biotic Ligand Model (BLM) Parameters in Vitro: Copper and Silver Binding to Rainbow Trout Gill Cells as Cultured Epithelia or in Suspension. ( 27983822 )
2017
43
Water Quality Criteria for Copper Based on the BLM Approach in the Freshwater in China. ( 28166229 )
2017
44
SELF-BLM: Prediction of drug-target interactions via self-training SVM. ( 28192537 )
2017
45
A helical bundle in the N-terminal domain of the BLM helicase mediates dimer and potentially hexamer formation. ( 28228481 )
2017
46
Deficiency of Psgl-1 accelerates bleomycin (BLM)-induced lung fibrosis and inflammation in mice through activating PI3K/AKT. ( 28263743 )
2017
47
Purification and enzymatic characterization of Gallus gallus BLM helicase. ( 28338731 )
2017
48
hSSB1 associates with and promotes stability of the BLM helicase. ( 28506294 )
2017
49
Role for RIF1-interacting partner DDX1 in BLM recruitment to DNA double-strand breaks. ( 28544931 )
2017
50
FANCM, BRCA1, and BLM cooperatively resolve the replication stress at the ALT telomeres. ( 28673972 )
2017
51
Crystal structure of a low molecular weight activator Blm-pep with yeast 20S proteasome - insights into the enzyme activation mechanism. ( 28733623 )
2017
52
BLM and SLX4 play opposing roles in recombination-dependent replication at human telomeres. ( 28877996 )
2017
53
BLM helicase regulates DNA repair by counteracting RAD51 loading at DNA double-strand break sites. ( 28912125 )
2017
54
The Role of Blm Helicase in Homologous Recombination, Gene Conversion Tract Length, and Recombination Between Diverged Sequences in Drosophilamelanogaster. ( 28912341 )
2017
55
Structural Insight into BLM Recognition by TopBP1. ( 28919440 )
2017
56
RecQ helicase BLM regulates prostate cancer cell proliferation and apoptosis. ( 28943928 )
2017
57
A New BRCT Binding Mode in TopBP1-BLM Helicase Interaction. ( 28978405 )
2017
58
Characterization of the nuclear import pathway for BLM protein. ( 29017749 )
2017
59
Enhancement of BLM-DNA2-Mediated Long-Range DNA End Resection by CtIP. ( 29020620 )
2017
60
RECQ-like helicases Sgs1 and BLM regulate R-loop-associated genome instability. ( 29042409 )
2017
61
Parallel genome-wide screens identify synthetic viable interactions between the BLM helicase complex and Fanconi anemia. ( 29089570 )
2017
62
Differential biological effects of dehydroepiandrosterone (DHEA) between mouse (B16F10) and human melanoma (BLM) cell lines. ( 29484102 )
2017
63
Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer. ( 27169843 )
2017
64
Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases. ( 27238185 )
2017
65
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. ( 26340805 )
2016
66
Burkitt lymphoma in a child with Bloom syndrome. ( 26774895 )
2016
67
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. ( 26788541 )
2016
68
A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. ( 26919505 )
2016
69
Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. ( 27185886 )
2016
70
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. ( 27597923 )
2016
71
Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks. ( 28058110 )
2016
72
Impact of a CXCL12/CXCR4 Antagonist in Bleomycin (BLM) Induced Pulmonary Fibrosis and Carbon Tetrachloride (CCl4) Induced Hepatic Fibrosis in Mice. ( 26998906 )
2016
73
Mutator Phenotype and DNA Double-Strand Break Repair in BLM Helicase-Deficient Human Cells. ( 27601585 )
2016
74
Human DNA2 possesses a cryptic DNA unwinding activity that functionally integrates with BLM or WRN helicases. ( 27612385 )
2016
75
Regulation of BLM Nucleolar Localization. ( 27657136 )
2016
76
BLM germline and somatic PKMYT1 and AHCY mutations: Genetic variations beyond MYCN and prognosis in neuroblastoma. ( 27876123 )
2016
77
Knockout mouse production assisted by Blm knockdown. ( 26598326 )
2016
78
The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers. ( 26778106 )
2016
79
Sustained PI3K Activation exacerbates BLM-induced Lung Fibrosis via activation of pro-inflammatory and pro-fibrotic pathways. ( 26971883 )
2016
80
The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis. ( 27010650 )
2016
81
BLM promotes the activation of Fanconi Anemia signaling pathway. ( 27083049 )
2016
82
Erratum: Sustained PI3K Activation exacerbates BLM-induced Lung Fibrosis via activation of pro-inflammatory and pro-fibrotic pathways. ( 27206226 )
2016
83
A Low-Noise Transimpedance Amplifier for BLM-Based Ion Channel Recording. ( 27213382 )
2016
84
FANCD2 limits BLM-dependent telomere instability in the alternative lengthening of telomeres pathway. ( 27427384 )
2016
85
Bleomycin (BLM) Induces Epithelial-to-Mesenchymal Transition in Cultured A549 Cells via the TGF-β/Smad Signaling Pathway. ( 27471572 )
2016
86
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. ( 25559542 )
2015
87
Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer. ( 25673821 )
2015
88
Bloom syndrome with extensive pulmonary involvement in a child. ( 25814763 )
2015
89
23andme obtains permission to market Bloom syndrome test. ( 26017705 )
2015
90
Total Glucosides of Danggui Buxue Tang Attenuate BLM-Induced Pulmonary Fibrosis via Regulating Oxidative Stress by Inhibiting NOX4. ( 26347805 )
2015
91
Cooperation of Blm and Mus81 in development, fertility, genomic integrity and cancer suppression. ( 24858046 )
2015
92
Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. ( 25182961 )
2015
93
A Distributed Amplifier System for Bilayer Lipid Membrane (BLM) Arrays With Noise and Individual Offset Cancellation. ( 25252284 )
2015
94
Genome-wide haplotype association study identifies BLM as a risk gene for prostate cancer in Chinese population. ( 25472581 )
2015
95
RECQL5 and BLM exhibit divergent functions in cells defective for the Fanconi anemia pathway. ( 25520194 )
2015
96
Disruption of SUMO-targeted ubiquitin ligases Slx5-Slx8/RNF4 alters RecQ-like helicase Sgs1/BLM localization in yeast and human cells. ( 25588990 )
2015
97
Unwinding forward and sliding back: an intermittent unwinding mode of the BLM helicase. ( 25765643 )
2015
98
BLM protein mitigates formaldehyde-induced genomic instability. ( 25770783 )
2015
99
TopBP1 stabilizes BLM protein to suppress sister chromatid exchange. ( 25794614 )
2015
100
TopBP1 interacts with BLM to maintain genome stability but is dispensable for preventing BLM degradation. ( 25794620 )
2015
101
Multiple mechanisms limit meiotic crossovers: TOP3α and two BLM homologs antagonize crossovers in parallel to FANCM. ( 25825745 )
2015
102
BLM unfolds G-quadruplexes in different structural environments through different mechanisms. ( 25897130 )
2015
103
BLM helicase facilitates telomere replication during leading strand synthesis of telomeres. ( 26195664 )
2015
104
Targeting SOD1 induces synthetic lethal killing in BLM- and CHEK2-deficient colorectal cancer cells. ( 26318585 )
2015
105
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. ( 26358404 )
2015
106
Mre11 and Blm-Dependent Formation of ALT-Like Telomeres in Ku-Deficient Ustilago maydis. ( 26492073 )
2015
107
In-vitro rescue and recovery studies of human melanoma (BLM) cell growth, adhesion and migration functions after treatment with progesterone. ( 26550137 )
2015
108
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. ( 24118499 )
2014
109
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. ( 24435566 )
2014
110
Bloom syndrome. ( 24602044 )
2014
111
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? ( 25341612 )
2014
112
Bloom syndrome radials are predominantly non-homologous and are suppressed by phosphorylated BLM. ( 25766002 )
2014
113
Sources and structures of mitotic crossovers that arise when BLM helicase is absent in Drosophila. ( 24172129 )
2014
114
Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele. ( 24415413 )
2014
115
Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations. ( 24800916 )
2014
116
Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs. ( 24958861 )
2014
117
Chk1 protects against chromatin bridges by constitutively phosphorylating BLM serine 502 to inhibit BLM degradation. ( 25015292 )
2014
118
Characterization of the Caenorhabditis elegans HIM-6/BLM helicase: unwinding recombination intermediates. ( 25036527 )
2014
119
DNA helicase HIM-6/BLM both promotes MutSγ-dependent crossovers and antagonizes MutSγ-independent interhomolog associations during caenorhabditis elegans meiosis. ( 25053665 )
2014
120
Association of BLM and BRCA1 during Telomere Maintenance in ALT Cells. ( 25084169 )
2014
121
Dynamics of the DNA repair proteins WRN and BLM in the nucleoplasm and nucleoli. ( 25119658 )
2014
122
DNA2 cooperates with the WRN and BLM RecQ helicases to mediate long-range DNA end resection in human cells. ( 25122754 )
2014
123
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members. ( 25129257 )
2014
124
The role of post-translational modifications in fine-tuning BLM helicase function during DNA repair. ( 25150915 )
2014
125
Multimerization domains are associated with apparent strand exchange activity in BLM and WRN DNA helicases. ( 25198671 )
2014
126
Multifaceted role of the Topo IIIα-RMI1-RMI2 complex and DNA2 in the BLM-dependent pathway of DNA break end resection. ( 25200081 )
2014
127
RecQ-core of BLM unfolds telomeric G-quadruplex in the absence of ATP. ( 25245947 )
2014
128
Blm-s, a BH3-only protein enriched in postmitotic immature neurons, is transcriptionally upregulated by p53 during DNA damage. ( 25263558 )
2014
129
TRF1 negotiates TTAGGG repeat-associated replication problems by recruiting the BLM helicase and the TPP1/POT1 repressor of ATR signaling. ( 25344324 )
2014
130
The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population. ( 25399228 )
2014
131
Structural mechanisms of human RecQ helicases WRN and BLM. ( 25400656 )
2014
132
The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia. ( 25410042 )
2014
133
Mechanistic insight into the interaction of BLM helicase with intra-strand G-quadruplex structures. ( 25418155 )
2014
134
In vitro effect of progesterone on human melanoma (BLM) cell growth. ( 25550902 )
2014
135
Bloom syndrome: report of two cases in siblings. ( 22998028 )
2013
136
Proton beam therapy for malignancy in Bloom syndrome. ( 23443610 )
2013
137
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. ( 23509288 )
2013
138
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease. ( 23572515 )
2013
139
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. ( 23708797 )
2013
140
Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase. ( 23908384 )
2013
141
Bloom syndrome in short children born small for gestational age: a challenging diagnosis. ( 23928670 )
2013
142
Structure of the RecQ C-terminal domain of human Bloom syndrome protein. ( 24257077 )
2013
143
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. ( 24377487 )
2013
144
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. ( 24932421 )
2013
145
A bulk liquid membrane-flow injection (BLM-FI) coupled system for the preconcentration and determination of vanadium in saline waters. ( 23200372 )
2013
146
A prospective randomized multicenter comparative study of BLM-240 (desflurane) versus sevoflurane in Japanese patients. ( 23224764 )
2013
147
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. ( 23225144 )
2013
148
Distinct functions of human RECQ helicases WRN and BLM in replication fork recovery and progression after hydroxyurea-induced stalling. ( 23253856 )
2013
149
Collaborating functions of BLM and DNA topoisomerase I in regulating human rDNA transcription. ( 23261817 )
2013
150
On BLM helicase in recombination-mediated telomere maintenance. ( 23268311 )
2013
151
A small molecule inhibitor of the BLM helicase modulates chromosome stability in human cells. ( 23352139 )
2013
152
BLM and RAD51 genes polymorphism and susceptibility to breast cancer. ( 23404160 )
2013
153
A new development in DNA repair modulation: discovery of a BLM helicase inhibitor. ( 23422862 )
2013
154
The BLM dissolvasome in DNA replication and repair. ( 23543275 )
2013
155
Role of replication protein A in double holliday junction dissolution mediated by the BLM-Topo IIIα-RMI1-RMI2 protein complex. ( 23543748 )
2013
156
FANCD2 regulates BLM complex functions independently of FANCI to promote replication fork recovery. ( 23658231 )
2013
157
Enhancement of c-Myc degradation by BLM helicase leads to delayed tumor initiation. ( 23750012 )
2013
158
Combinatorial regulation of meiotic holliday junction resolution in C. elegans by HIM-6 (BLM) helicase, SLX-4, and the SLX-1, MUS-81 and XPF-1 nucleases. ( 23901331 )
2013
159
BLM SUMOylation regulates ssDNA accumulation at stalled replication forks. ( 24027577 )
2013
160
A role for BLM in double-strand break repair pathway choice: prevention of CtIP/Mre11-mediated alternative nonhomologous end-joining. ( 24095737 )
2013
161
A common nonsense mutation of the BLM gene and prostate cancer risk and survival. ( 24096176 )
2013
162
Monopolar spindle 1 (MPS1) protein-dependent phosphorylation of RecQ-mediated genome instability protein 2 (RMI2) at serine 112 is essential for BLM-Topo III α-RMI1-RMI2 (BTR) protein complex function upon spindle assembly checkpoint (SAC) activation during mitosis. ( 24108125 )
2013
163
TopBP1 controls BLM protein level to maintain genome stability. ( 24239288 )
2013
164
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. ( 22272300 )
2012
165
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. ( 22392978 )
2012
166
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes. ( 23110454 )
2012
167
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. ( 23129629 )
2012
168
High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. ( 21815139 )
2012
169
Fanconi anemia and Bloom's syndrome crosstalk through FANCJ-BLM helicase interaction. ( 22024395 )
2012
170
Evaluating the ameliorative effect of natural dissolved organic matter (DOM) quality on copper toxicity to Daphnia magna: improving the BLM. ( 22072428 )
2012
171
BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription. ( 22106380 )
2012
172
Polarity and bypass of DNA heterology during branch migration of Holliday junctions by human RAD54, BLM, and RECQ1 proteins. ( 22356911 )
2012
173
BLM helicase ortholog Sgs1 is a central regulator of meiotic recombination intermediate metabolism. ( 22500736 )
2012
174
The human RecQ helicases BLM and RECQL4 cooperate to preserve genome stability. ( 22544709 )
2012
175
The BLM helicase contributes to telomere maintenance through processing of late-replicating intermediate structures. ( 22576367 )
2012
176
Recruitment of HRDC domain of WRN and BLM to the sites of DNA damage induced by mitomycin C and methyl methanesulfonate. ( 22657828 )
2012
177
Electro-optical BLM chips enabling dynamic imaging of ordered lipid domains. ( 22728885 )
2012
178
Multimeric BLM is dissociated upon ATP hydrolysis and functions as monomers in resolving DNA structures. ( 22885301 )
2012
179
BLM and RMI1 alleviate RPA inhibition of TopoIIIα decatenase activity. ( 22911760 )
2012
180
The roles of WRN and BLM RecQ helicases in the Alternative Lengthening of Telomeres. ( 22989712 )
2012
181
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. ( 23028338 )
2012
182
Evolution of an MCM complex in flies that promotes meiotic crossovers by blocking BLM helicase. ( 23224558 )
2012
183
Critical interaction domains between bloom syndrome protein and RAD51. ( 21113733 )
2011
184
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. ( 21300576 )
2011
185
Augmented cell death with Bloom syndrome helicase deficiency. ( 21567087 )
2011
186
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. ( 21712816 )
2011
187
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. ( 21730139 )
2011
188
The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks. ( 21736299 )
2011
189
Bloom syndrome complicated by colonic cancer in a young Tunisian woman. ( 21778134 )
2011
190
Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. ( 22183041 )
2011
191
Subcellular partitioning links BLM-based toxicokinetics for assessing cadmium toxicity to rainbow trout. ( 20549614 )
2011
192
Sgs1 truncations induce genome rearrangements but suppress detrimental effects of BLM overexpression in Saccharomyces cerevisiae. ( 21111748 )
2011
193
Chromosome breakage is regulated by the interaction of the BLM helicase and topoisomerase IIalpha. ( 21224348 )
2011
194
A Blm-Recql5 partnership in replication stress response. ( 21278449 )
2011
195
BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair. ( 21325134 )
2011
196
PICH and BLM limit histone association with anaphase centromeric DNA threads and promote their resolution. ( 21743438 )
2011
197
Three structure-selective endonucleases are essential in the absence of BLM helicase in Drosophila. ( 22022278 )
2011
198
Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice. ( 19995795 )
2010
199
The Bloom syndrome protein limits the lethality associated with RAD51 deficiency. ( 20215422 )
2010
200
Bloom syndrome in two siblings. ( 20537070 )
2010
201
Structure and function of the regulatory HRDC domain from human Bloom syndrome protein. ( 20639533 )
2010
202
Rif1 provides a new DNA-binding interface for the Bloom syndrome complex to maintain normal replication. ( 20711169 )
2010
203
Solution structure of the HRDC domain of human Bloom syndrome protein BLM. ( 20739603 )
2010
204
Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. ( 20826341 )
2010
205
Integration of biotic ligand models (BLM) and bioaccumulation kinetics into a mechanistic framework for metal uptake in aquatic organisms. ( 20515030 )
2010
206
BLM has early and late functions in homologous recombination repair in mouse embryonic stem cells. ( 20531307 )
2010
207
G-quadruplex hinders translocation of BLM helicase on DNA: a real-time fluorescence spectroscopic unwinding study and comparison with duplex substrates. ( 20614884 )
2010
208
The human WRN and BLM RecQ helicases differentially regulate cell proliferation and survival after chemotherapeutic DNA damage. ( 20663905 )
2010
209
Effects of erlotinib on lung injury induced by intratracheal administration of bleomycin (BLM) in rats. ( 20686337 )
2010
210
Chk1-dependent constitutive phosphorylation of BLM helicase at serine 646 decreases after DNA damage. ( 20719863 )
2010
211
Crystal structures of RMI1 and RMI2, two OB-fold regulatory subunits of the BLM complex. ( 20826342 )
2010
212
BLM Deficiency Is Not Associated with Sensitivity to Hydroxyurea-Induced Replication Stress. ( 20936166 )
2010
213
A new model for predicting time course toxicity of heavy metals based on Biotic Ligand Model (BLM). ( 19689929 )
2010
214
Irradiated Blm-deficient mice are a highly tumor prone model for analysis of a broad spectrum of hematologic malignancies. ( 19709744 )
2010
215
Sumoylation of the BLM ortholog, Sgs1, promotes telomere-telomere recombination in budding yeast. ( 19906698 )
2010
216
Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. ( 19945966 )
2010
217
Kinetic mechanism of DNA unwinding by the BLM helicase core and molecular basis for its low processivity. ( 20028084 )
2010
218
Mechanisms of recombination between diverged sequences in wild-type and BLM-deficient mouse and human cells. ( 20154148 )
2010
219
In vivo analysis of Drosophila BLM helicase function during DNA double-strand gap repair. ( 20225150 )
2010
220
Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice. ( 20299287 )
2010
221
Mammalian BLM helicase is critical for integrating multiple pathways of meiotic recombination. ( 20308424 )
2010
222
Dynamic features of ecophysiological response of freshwater clam to arsenic revealed by BLM-based toxicological model. ( 20369381 )
2010
223
An essential DNA strand-exchange activity is conserved in the divergent N-termini of BLM orthologs. ( 20389284 )
2010
224
Human topoisomerase IIIalpha is a single-stranded DNA decatenase that is stimulated by BLM and RMI1. ( 20445207 )
2010
225
An unusual case of Bloom syndrome presenting with basal cell carcinoma. ( 19076197 )
2009
226
Identification and analysis of new proteins involved in the DNA damage response network of Fanconi anemia and Bloom syndrome. ( 19245838 )
2009
227
Loss of Bloom syndrome protein destabilizes human gene cluster architecture. ( 19542097 )
2009
228
Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism. ( 19632996 )
2009
229
Removal of the bloom syndrome DNA helicase extends the utility of imprecise transposon excision for making null mutations in Drosophila. ( 19687136 )
2009
230
Telomeric D-loops containing 8-oxo-2'-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1. ( 19734539 )
2009
231
Lupus-like histopathology in bloom syndrome: reexamining the clinical and histologic implications of photosensitivity. ( 19820394 )
2009
232
Bloom syndrome with lung involvement. ( 20442845 )
2009
233
Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility. ( 18974064 )
2009
234
Bilayer lipid membrane (BLM) based ion selective electrodes at the meso-, micro-, and nano-scales. ( 19008091 )
2009
235
Genomic instability resulting from Blm deficiency compromises development, maintenance, and function of the B cell lineage. ( 19109166 )
2009
236
BLM helicase measures DNA unwound before switching strands and hRPA promotes unwinding reinitiation. ( 19165145 )
2009
237
A piggyBac transposon-based genome-wide library of insertionally mutated Blm-deficient murine ES cells. ( 19233961 )
2009
238
Telomerase-associated protein 1, HSP90, and topoisomerase IIalpha associate directly with the BLM helicase in immortalized cells using ALT and modulate its helicase activity using telomeric DNA substrates. ( 19329795 )
2009
239
Role of Blm and collaborating factors in recombination and survival following replication stress in Ustilago maydis. ( 19349216 )
2009
240
Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. ( 19432957 )
2009
241
The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities. ( 19465921 )
2009
242
BLM helicase stimulates the ATPase and chromatin-remodeling activities of RAD54. ( 19671661 )
2009
243
Topo IIIalpha and BLM act within the Fanconi anemia pathway in response to DNA-crosslinking agents. ( 19738377 )
2009
244
Dissolution of double Holliday junctions by the concerted action of BLM and topoisomerase IIIalpha. ( 19763944 )
2009
245
Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma. ( 19917125 )
2009
246
Does BLM helicase unwind nucleosomal DNA? ( 19935873 )
2009
247
SUMO modification regulates BLM and RAD51 interaction at damaged replication forks. ( 19956565 )
2009
248
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. ( 19888064 )
2009
249
Surveillance and treatment of malignancy in Bloom syndrome. ( 18359209 )
2008
250
Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1A. ( 18401830 )
2008
251
Three new BLM gene mutations associated with Bloom syndrome. ( 18471088 )
2008
252
Deficiency of Bloom syndrome helicase activity is radiomimetic. ( 18787401 )
2008
253
RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. ( 18923082 )
2008
254
Phosphorylation-dependent interactions of BLM and 53BP1 are required for their anti-recombinogenic roles during homologous recombination. ( 17984114 )
2008
255
Analyses of functional interaction between RECQL1, RECQL5, and BLM which physically interact with DNA topoisomerase IIIalpha. ( 18078829 )
2008
256
Protein expression of BLM gene and its apoptosis sensitivity in hematopoietic tumor cell strains. ( 18278455 )
2008
257
Vertebrate WRNIP1 and BLM are required for efficient maintenance of genome stability. ( 18379138 )
2008
258
Functional role of BLAP75 in BLM-topoisomerase IIIalpha-dependent holliday junction processing. ( 18390547 )
2008
259
The Human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities. ( 18448429 )
2008
260
The fission yeast BLM homolog Rqh1 promotes meiotic recombination. ( 18562672 )
2008
261
Effects of water chemistry variables on gill binding and acute toxicity of cadmium in rainbow trout (Oncorhynchus mykiss): A biotic ligand model (BLM) approach. ( 18577468 )
2008
262
The Bloom's syndrome helicase (BLM) interacts physically and functionally with p12, the smallest subunit of human DNA polymerase delta. ( 18682526 )
2008
263
DNA helicases Sgs1 and BLM promote DNA double-strand break resection. ( 18923075 )
2008
264
Isolation and sequencing of pig Blm and Ubl-1/SUMO-1 genes that relate to the recombination machinery. ( 18929858 )
2008
265
Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair. ( 18971343 )
2008
266
Carrier screening in individuals of Ashkenazi Jewish descent. ( 18197057 )
2008
267
Differential expression of Werner and Bloom syndrome genes in the peripheral blood of HIV-1 infected patients. ( 17321898 )
2007
268
Absence of p53 enhances growth defects and etoposide sensitivity of human cells lacking the Bloom syndrome helicase BLM. ( 17630856 )
2007
269
Oxidative stress biomarkers in four Bloom syndrome (BS) patients and in their parents suggest in vivo redox abnormalities in BS phenotype. ( 17678887 )
2007
270
Stage II squamous cell carcinoma of the vagina in a patient with Bloom syndrome: a case report. ( 17694984 )
2007
271
The arginine finger of the Bloom syndrome protein: its structural organization and its role in energy coupling. ( 17766252 )
2007
272
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. ( 17878217 )
2007
273
Lens opacities in Bloom syndrome: case report and review of the literature. ( 17896317 )
2007
274
Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome. ( 18210922 )
2007
275
Development of a biotic ligand model (BLM) predicting nickel toxicity to barley (Hordeum vulgare). ( 16908050 )
2007
276
Cooperative roles of vertebrate Fbh1 and Blm DNA helicases in avoidance of crossovers during recombination initiated by replication fork collapse. ( 17283053 )
2007
277
Role of the BLM helicase in replication fork management. ( 17363339 )
2007
278
BLM Analyzer: a software tool for experiments on planar lipid bilayers. ( 17390540 )
2007
279
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. ( 17407155 )
2007
280
A recessive genetic screen for host factors required for retroviral infection in a library of insertionally mutated Blm-deficient embryonic stem cells. ( 17407599 )
2007
281
Multiple functions of Drosophila BLM helicase in maintenance of genome stability. ( 17507683 )
2007
282
BLM helicase-dependent and -independent roles of 53BP1 during replication stress-mediated homologous recombination. ( 17591918 )
2007
283
BLM is required for faithful chromosome segregation and its localization defines a class of ultrafine anaphase bridges. ( 17599064 )
2007
284
Role for BLM in replication-fork restart and suppression of origin firing after replicative stress. ( 17603497 )
2007
285
pH modulates transport rates of manganese and cadmium in the green alga Chlamydomonas reinhardtii through non-competitive interactions: implications for an algal BLM. ( 17651821 )
2007
286
BLM ortholog, Sgs1, prevents aberrant crossing-over by suppressing formation of multichromatid joint molecules. ( 17662941 )
2007
287
Holliday junction processing activity of the BLM-Topo IIIalpha-BLAP75 complex. ( 17728255 )
2007
288
Functional interactions between BLM and XRCC3 in the cell. ( 17923529 )
2007
289
Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality. ( 17961633 )
2007
290
Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. ( 15950375 )
2006
291
Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteins. ( 16412221 )
2006
292
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. ( 16501249 )
2006
293
Enhanced gene targeting efficiency by siRNA that silences the expression of the Bloom syndrome gene in human cells. ( 16611240 )
2006
294
The Bloom syndrome helicase is a substrate of the mitotic Cdc2 kinase. ( 16880735 )
2006
295
The Werner and Bloom syndrome proteins catalyze regression of a model replication fork. ( 17115688 )
2006
296
BLAP75/RMI1 promotes the BLM-dependent dissolution of homologous recombination intermediates. ( 16537486 )
2006
297
A double Holliday junction dissolvasome comprising BLM, topoisomerase IIIalpha, and BLAP75. ( 16595695 )
2006
298
Tumor suppressor gene identification using retroviral insertional mutagenesis in Blm-deficient mice. ( 16858412 )
2006
299
MPS1-dependent mitotic BLM phosphorylation is important for chromosome stability. ( 16864798 )
2006
300
BLM is an early responder to DNA double-strand breaks. ( 16876111 )
2006
301
Embryonic stem cells deficient for Brca2 or Blm exhibit divergent genotoxic profiles that support opposing activities during homologous recombination. ( 16997331 )
2006
302
Differential expression of defense/stress-related marker proteins in leaves of a unique rice blast lesion mimic mutant (blm). ( 17022630 )
2006
303
Template disruptions and failure of double Holliday junction dissolution during double-strand break repair in Drosophila BLM mutants. ( 17075047 )
2006
304
Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. ( 15726604 )
2005
305
Bloom syndrome in an Indian child. ( 15804305 )
2005
306
Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases. ( 15965237 )
2005
307
Bloom syndrome ortholog HIM-6 maintains genomic stability in C. elegans. ( 16181657 )
2005
308
An in vitro biotic ligand model (BLM) for silver binding to cultured gill epithelia of freshwater rainbow trout (Oncorhynchus mykiss). ( 15589974 )
2005
309
Functional relationships of FANCC to homologous recombination, translesion synthesis, and BLM. ( 15616572 )
2005
310
Rad51-dependent DNA structures accumulate at damaged replication forks in sgs1 mutants defective in the yeast ortholog of BLM RecQ helicase. ( 15687257 )
2005
311
BLM helicase is activated in BCR/ABL leukemia cells to modulate responses to cisplatin. ( 15750625 )
2005
312
BLM helicase facilitates Mus81 endonuclease activity in human cells. ( 15805243 )
2005
313
Intra-nuclear trafficking of the BLM helicase to DNA damage-induced foci is regulated by SUMO modification. ( 15829507 )
2005
314
Recql5 and Blm RecQ DNA helicases have nonredundant roles in suppressing crossovers. ( 15831450 )
2005
315
The rice (Oryza sativa) blast lesion mimic mutant, blm, may confer resistance to blast pathogens by triggering multiple defense-associated signaling pathways. ( 15907692 )
2005
316
The HRDC domain of BLM is required for the dissolution of double Holliday junctions. ( 15990871 )
2005
317
BLM helicase complements disrupted type II telomere lengthening in telomerase-negative sgs1 yeast. ( 15994923 )
2005
318
POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates. ( 16030011 )
2005
319
Phosphorylation of BLM, dissociation from topoisomerase IIIalpha, and colocalization with gamma-H2AX after topoisomerase I-induced replication damage. ( 16199871 )
2005
320
Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background. ( 16288003 )
2005
321
Bloom syndrome: multiple retinopathies in a chromosome breakage disorder. ( 14977768 )
2004
322
Early-onset drusen in a girl with bloom syndrome: probable clinical importance of an ocular manifestation. ( 15087955 )
2004
323
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. ( 15137905 )
2004
324
Relatively common mutations of the Bloom syndrome gene in the Japanese population. ( 15289897 )
2004
325
Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. ( 15367665 )
2004
326
Spontaneous and induced chromosomal damage and mutations in Bloom Syndrome mice. ( 15450411 )
2004
327
Expression of Werner and Bloom syndrome genes is differentially regulated by in vitro HIV-1 infection of peripheral blood mononuclear cells. ( 15498034 )
2004
328
Disruption of the BLM gene in ATM-null DT40 cells does not exacerbate either phenotype. ( 14985700 )
2004
329
The absence of a functional relationship between ATM and BLM, the components of BASC, in DT40 cells. ( 14990344 )
2004
330
The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase. ( 15064730 )
2004
331
Absence of BLM leads to accumulation of chromosomal DNA breaks during both unperturbed and disrupted S phases. ( 15197177 )
2004
332
Mismatch repair genes identified using genetic screens in Blm-deficient embryonic stem cells. ( 15215866 )
2004
333
Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2. ( 15229185 )
2004
334
RPA alleviates the inhibitory effect of vinylphosphonate internucleotide linkages on DNA unwinding by BLM and WRN helicases. ( 15256542 )
2004
335
BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks. ( 15257300 )
2004
336
Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest. ( 15364958 )
2004
337
The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining. ( 15476892 )
2004
338
The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining. ( 15493327 )
2004
339
Genetic interactions between BLM and DNA ligase IV in human cells. ( 15509577 )
2004
340
ATR and ATM-dependent movement of BLM helicase during replication stress ensures optimal ATM activation and 53BP1 focus formation. ( 15539948 )
2004
341
A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. ( 12724401 )
2003
342
Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. ( 12818200 )
2003
343
The human Bloom syndrome gene suppresses the DNA replication and repair defects of yeast dna2 mutants. ( 12826610 )
2003
344
Bloom syndrome cells undergo p53-dependent apoptosis and delayed assembly of BRCA1 and NBS1 repair complexes at stalled replication forks. ( 14517203 )
2003
345
Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase. ( 14577841 )
2003
346
Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing. ( 12522255 )
2003
347
BLM helicase-dependent transport of p53 to sites of stalled DNA replication forks modulates homologous recombination. ( 12606585 )
2003
348
Heterozygosity for the BLM(Ash) mutation and cancer risk. ( 12702560 )
2003
349
Functional relation among RecQ family helicases RecQL1, RecQL5, and BLM in cell growth and sister chromatid exchange formation. ( 12724411 )
2003
350
Chromosome instability and tumor predisposition inversely correlate with BLM protein levels. ( 14642567 )
2003
351
Hyper-recombination and genetic instability in BLM-deficient epithelial cells. ( 14695165 )
2003
352
Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM. ( 12034743 )
2002
353
Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. ( 11876000 )
2002
354
Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. ( 11919194 )
2002
355
Expression of BLM (the causative gene for Bloom syndrome) and screening of Bloom syndrome. ( 12060858 )
2002
356
Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases. ( 12181313 )
2002
357
Chromosomal instability in B-lymphoblasotoid cell lines from Werner and Bloom syndrome patients. ( 12297140 )
2002
358
The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis. ( 12444098 )
2002
359
The BLM helicase is necessary for normal DNA double-strand break repair. ( 12019152 )
2002
360
The processing of Holliday junctions by BLM and WRN helicases is regulated by p53. ( 12080066 )
2002
361
G4 DNA unwinding by BLM and Sgs1p: substrate specificity and substrate-specific inhibition. ( 12235379 )
2002
362
BLM heterozygosity and the risk of colorectal cancer. ( 12242432 )
2002
363
Enhanced tumor formation in mice heterozygous for Blm mutation. ( 12242442 )
2002
364
Cleavage of BLM and sensitivity of Bloom's syndrome cells to hydroxurea and UV-C radiation. ( 12429945 )
2002
365
Unwinding of a DNA triple helix by the Werner and Bloom syndrome helicases. ( 11110789 )
2001
366
Selective cleavage of BLM, the bloom syndrome protein, during apoptotic cell death. ( 11154689 )
2001
367
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. ( 11281456 )
2001
368
Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. ( 11283371 )
2001
369
Regulation and localization of the Bloom syndrome protein in response to DNA damage. ( 11309417 )
2001
370
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. ( 11454428 )
2001
371
The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability. ( 11472631 )
2001
372
Successful pregnancy in a woman with Bloom syndrome. ( 11477604 )
2001
373
Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype. ( 11532193 )
2001
374
Telomerase activity in cell lines and lymphoma originating from Bloom syndrome. ( 11697506 )
2001
375
The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control. ( 11781842 )
2001
376
Bloom syndrome in sibs: first reports of hepatocellular carcinoma and Wilms tumor with documented anaplasia and nephrogenic rests. ( 11826367 )
2001
377
The Bloom Syndrome Protein BLM Is Selectively Cleaved during Apoptotic Cell Death. ( 30147470 )
2001
378
SGS1, the Saccharomyces cerevisiae homologue of BLM and WRN, suppresses genome instability and homeologous recombination. ( 11138010 )
2001
379
Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51. ( 11278509 )
2001
380
The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair. ( 11325959 )
2001
381
Immunohistochemical expression and pathogenesis of BLM in the human brain and visceral organs. ( 11396677 )
2001
382
Functional interaction of p53 and BLM DNA helicase in apoptosis. ( 11399766 )
2001
383
Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability. ( 11406610 )
2001
384
The N-terminal internal region of BLM is required for the formation of dots/rod-like structures which are associated with SUMO-1. ( 11500040 )
2001
385
Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome. ( 10616531 )
2000
386
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. ( 10678659 )
2000
387
Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. ( 10728666 )
2000
388
Characterization of the nuclear localization signal in the DNA helicase responsible for Bloom syndrome. ( 10762650 )
2000
389
Nuclear structure in normal and Bloom syndrome cells. ( 10779560 )
2000
390
An intracranial carcinoma in a Mexican woman with Bloom syndrome. ( 10818223 )
2000
391
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. ( 10965492 )
2000
392
Binding and melting of D-loops by the Bloom syndrome helicase. ( 11087418 )
2000
393
Expression and nuclear localization of BLM, a chromosome stability protein mutated in Bloom's syndrome, suggest a role in recombination during meiotic prophase. ( 10652259 )
2000
394
Genetic progression in microsatellite instability high (MSI-H) colon cancers correlates with clinico-pathological parameters: A study of the TGRbetaRII, BAX, hMSH3, hMSH6, IGFIIR and BLM genes. ( 10861498 )
2000
395
Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome. ( 10862105 )
2000
396
Possible association of BLM in decreasing DNA double strand breaks during DNA replication. ( 10880455 )
2000
397
Photoelectric measurements of s-BLM/nucleoli: a new technique for studying apoptosis. ( 10910168 )
2000
398
Transformation-defective adenovirus 5 E1A mutants exhibit antioncogenic properties in human BLM melanoma cells. ( 10917207 )
2000
399
Giant Artificial Ion Channels Formed by Self-Assembled, Cationic Rigid-Rod beta-Barrels We thank Dr. E. Buck (Warner Instrument Corp., Hamden, CT) and R. Marclay (University of Geneva) for installation of a BLM workstation, Dr. E. Buck for BLM instructions, A. Pinto, J.-P. Saulnier, the group of Prof. Gülaçar, and Dr. H. Eder for NMR, MS, and elemental analyses, respectively (University of Geneva), and the Swiss NSF and Suntory Institute for Bioorganic Research (SUNBOR Grant) for financial support. ( 10940993 )
2000
400
ATM-dependent phosphorylation and accumulation of endogenous BLM protein in response to ionizing radiation. ( 11146546 )
2000
401
BLM, the Bloom's syndrome protein, varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins. ( 11173860 )
2000
402
Fusion of a single influenza virion particle with BLM. ( 11368500 )
2000
403
[Bloom syndrome]. ( 10921324 )
2000
404
Evolution of the RECQ family of helicases: A drosophila homolog, Dmblm, is similar to the human bloom syndrome gene. ( 10049920 )
1999
405
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. ( 10069810 )
1999
406
Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. ( 10090915 )
1999
407
Growth deficiency and malnutrition in Bloom syndrome. ( 10190923 )
1999
408
Sclerosing hyaline necrosis of the liver in Bloom syndrome. ( 10320150 )
1999
409
Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome: cytogenetic, histopathologic, TP53 gene and protein expression studies. ( 10326590 )
1999
410
Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. ( 10464671 )
1999
411
Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. ( 10521302 )
1999
412
Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase. ( 10569803 )
1999
413
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. ( 10647186 )
1999
414
memA/DRS, a putative mediator of multiprotein complexes, is overexpressed in the metastasizing human melanoma cell lines BLM and MV3. ( 10095061 )
1999
415
Electron transfer between ferrocene-modified Au/octadecanethiol/lipid BLM electrode and redox couples in solution. ( 10228595 )
1999
416
Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes. ( 10318934 )
1999
417
Expression of the BLM gene in human haematopoietic cells. ( 10540192 )
1999
418
Purification of overexpressed hexahistidine-tagged BLM N431 as oligomeric complexes. ( 10545272 )
1999
419
Experience treating a patient with Bloom syndrome and acute myelogenous leukemia. ( 9544230 )
1998
420
T-cell receptor-gamma rearrangement and c-myb methylation in MNNG-exposed Bloom syndrome B-lymphoblastoid cells. ( 9563641 )
1998
421
MNNG-transformed Bloom syndrome B-lymphoblastoids for the detection of Hodgkin's lymphoma-associated antigen in 2D Westerns. ( 9563642 )
1998
422
Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome. ( 9696294 )
1998
423
The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors. ( 9731483 )
1998
424
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. ( 9758720 )
1998
425
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. ( 9837821 )
1998
426
High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. ( 10464606 )
1998
427
Brefeldin A (BFA) inhibits basolateral membrane (BLM) delivery and dimerization of transcobalamin II receptor in human intestinal epithelial Caco-2 cells. BFA effects on BLM cholesterol content. ( 9632671 )
1998
428
cDNA cloning of mouse BLM gene, the homologue to human Bloom's syndrome gene, which is highly expressed in the testis at the mRNA level. ( 9655940 )
1998
429
Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. ( 9840919 )
1998
430
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. ( 9482582 )
1998
431
A case of Bloom syndrome with conjunctival telangiectasia. ( 9144698 )
1997
432
BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. ( 9388480 )
1997
433
Two Japanese siblings with Bloom syndrome gene mutation and B-cell lymphoma. ( 9477137 )
1997
434
Correction of the Bloom syndrome cellular phenotypes. ( 9546074 )
1997
435
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. ( 9285778 )
1997
436
Oscillating Ca2+-induced channel activity obtained in BLM with a mitochondrial membrane component. ( 9559857 )
1997
437
Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability. ( 8637501 )
1996
438
Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. ( 8661112 )
1996
439
Microsatellite instability in B-cell lymphoma originating from Bloom syndrome. ( 8980251 )
1996
440
Treatment of Bloom syndrome patients: guidelines and report of a case. ( 8637756 )
1996
441
Bloom syndrome: is the gene mapped to the point? ( 8698416 )
1996
442
Simultaneous suppression of progression marker genes in the highly malignant human melanoma cell line BLM after transfection with the adenovirus-5 E1A gene. ( 8780694 )
1996
443
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. ( 7485150 )
1995
444
Low-sister-chromatid-exchange Bloom syndrome cell lines: an important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human tumor development. ( 7485184 )
1995
445
Non-random distribution of spontaneous chromosome aberrations in two Bloom Syndrome patients. ( 8537239 )
1995
446
Diagnostic relevance of abortion-associated human embryonic antigen expressed on the cell surface of tumour promoter-treated Bloom syndrome cells. ( 8582963 )
1995
447
Expression of mucinous ovarian-cancer antigen in hybrid-cells derived by fusing a malignantly transformed bloom-syndrome cell-line (bs-shi-4m ovc-mu) and mouse L-cell-line. ( 21552960 )
1995
448
A human embryonic antigen associated with spontaneous-abortion is expressed on the cell-surface of a tumor promoter-treated bloom-syndrome B-lymphoblastoid cell-line. ( 21556539 )
1995
449
Cancer antigen expression and chromosomal changes in a carcinogen-transformed bloom-syndrome B-lymphoblastoid cell-line. ( 21556573 )
1995
450
The Bloom's syndrome gene product is homologous to RecQ helicases. ( 7585968 )
1995
451
Bloom syndrome and maternal uniparental disomy for chromosome 15. ( 7912890 )
1994
452
Chromosomal breakage in human spermatozoa, a heterozygous effect of the Bloom syndrome mutation. ( 7977385 )
1994
453
Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. ( 8022833 )
1994
454
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. ( 8079989 )
1994
455
Interaction of bloom-syndrome cellular cancer antigens with sera of malignant-lymphoma patients - an immunological and cytogenetical study. ( 21566955 )
1994
456
Panning and immune electron-microscopic study of mucinous ovarian-cancer antigen-specific cells derived from malignantly transformed bloom-syndrome B-lymphoblastoid cells. ( 21567035 )
1994
457
Downregulation of taurocholate transport by ileal BBM and liver BLM in biliary-diverted rats. ( 7943314 )
1994
458
Bloom syndrome: a mendelian prototype of somatic mutational disease. ( 8231788 )
1993
459
DNA ligase III is the major high molecular weight DNA joining activity in SV40-transformed human fibroblasts: normal levels of DNA ligase III activity in Bloom syndrome cells. ( 8265359 )
1993
460
p53 mutation in fresh lymphocytes, B-lymphoblastoid cell lines and their transformed cell lines originating from Bloom syndrome patients. ( 8330285 )
1993
461
Uncorrected SCE levels of Bloom syndrome cells by cell hybridization with malignant cells with 14q32 structural abnormalities. ( 8374900 )
1993
462
Viscoelasticity of BLM from choline plasmalogen, alkylacyl- and diacyl-glycerophosphocholines. ( 8224783 )
1993
463
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. ( 1279391 )
1992
464
Increased expression of 5q31 fragile site in a Bloom syndrome family. ( 1386058 )
1992
465
Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15. ( 1518822 )
1992
466
Enhanced expression of stomach cancer antigen derived from malignantly transformed bloom syndrome cells previously labeled with bromodeoxyuridine. ( 1521223 )
1992
467
Bloom syndrome and ataxia telangiectasia. ( 1876866 )
1991
468
Relationship of DNA strand breakage produced by bromodeoxyuridine to topoisomerase II activity in Bloom-syndrome fibroblasts. ( 1848352 )
1991
469
Further characterizations of bleomycin-sensitive (blm) mutants of Saccharomyces cerevisiae with implications for a radiomimetic model. ( 1710619 )
1991
470
A self-assembled pigmented BLM on a platinum support: the light-induced electrical effects. ( 1864496 )
1991
471
Formation of a bilayer lipid membrane on rigid supports: an approach to BLM-based biosensors. ( 2049170 )
1991
472
Bromodeoxyuridine (BrdU) template and thymidine pool effects on high frequencies of sister-chromatid exchange (SCE) in Bloom syndrome cells and a mutant cell line (AsHa) originated from ataxia telangiectasia. ( 2374555 )
1990
473
Nature and role of high sister chromatid exchanges in Bloom syndrome cells. Some cytogenetic and immunological aspects. ( 2265400 )
1990
474
Levels of sister-chromatid exchanges in hybrids between Bloom syndrome B-lymphoblastoid cells and various cell lines with lymphoid malignancy. ( 2300080 )
1990
475
Western blotting analysis for malignant lymphoma and stomach cancer antigens from carcinogen-transformed Bloom syndrome cells. ( 2323853 )
1990
476
Different mutations responsible for the elevated sister-chromatid exchange frequencies in Bloom syndrome and X-irradiated B-lymphoblastoid cell lines originating from acute leukemia. ( 2784538 )
1989
477
Defective repair of DNA single- and double-strand breaks in the bleomycin- and X-ray-sensitive Chinese hamster ovary cell mutant, BLM-2. ( 2465493 )
1989
478
Comparative study of two neoadjuvant protocols (VBM and DDP-BLM) combined with radiation therapy in advanced head and neck cancer. ( 2470865 )
1989
479
Amphiphilic derivatives of betaine esters as modifiers of macrovesicular BLM. ( 2548915 )
1989
480
Disparate effects of 5-bromodeoxyuridine on sister-chromatid exchanges and chromosomal aberrations in Bloom syndrome fibroblasts. ( 2965297 )
1988
481
Effects of cell fusion and deoxynucleosides on sister-chromatid exchanges in B-lymphoblastoid cell lines from 5 Bloom syndrome patients. ( 2966298 )
1988
482
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. ( 3163468 )
1988
483
Cancer antigens are expressed in a carcinogen-transformed Bloom syndrome B-lymphoblastoid cell line. ( 3186719 )
1988
484
Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. ( 3353381 )
1988
485
Light-induced electrical effects in a liquid crystal BLM containing TCNQ. ( 3222337 )
1988
486
Wilms tumor in three patients with Bloom syndrome. ( 3040954 )
1987
487
Structural alterations of DNA ligase I in Bloom syndrome. ( 3479778 )
1987
488
Three-way differentiation of sister chromatids in endoreduplicated (M3) chromosomes of Bloom syndrome B-lymphoid cell line. ( 3493971 )
1987
489
SCE levels in Bloom-syndrome cells at very low bromodeoxyuridine (BrdU) concentrations: monoclonal anti-BrdU antibody. ( 3540648 )
1987
490
Cell cycle rate and sister chromatid exchange profile in polyethylene glycol-exposed/unexposed Bloom syndrome and normal cells. A co-culture study. ( 3570291 )
1987
491
Cell cycle progression and SCE rate of Bloom syndrome cells with/without co-cultivation in the presence/absence of normal cells. ( 3485532 )
1986
492
Bloom syndrome in a Mexican mestizo girl. ( 3487274 )
1986
493
Hypersensitive character of Bloom syndrome B-lymphoblastoid cell lines usable for sensitive carcinogen detection. ( 3490622 )
1986
494
Preneoplastic phenotype and chromosome changes of cultured human Bloom syndrome fibroblasts (strain GM 1492). ( 3940643 )
1986
495
Malignant transformation of Bloom syndrome B-lymphoblastoid cell lines by carcinogens. ( 3875094 )
1985
496
Bloom syndrome B-lymphoblastoid cells are hypersensitive towards carcinogen and tumor promoter-induced chromosomal alterations and growth in agar. ( 3876929 )
1985
497
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. ( 4065890 )
1985
498
Capacitive and ionic currents in BLM from phosphatidic acid in Ca2+-induced phase transition. ( 4084304 )
1985
499
Analysis of sister chromatid exchanges in Bloom syndrome by use of endomitotic and three-way differentiation procedures. ( 6084996 )
1984
500
Different properties in lymphoblastoid cell lines from patients with Bloom syndrome. ( 6099120 )
1984
501
Sensitivity of Bloom syndrome fibroblasts to mitomycin C. ( 6429525 )
1984
502
Corrective factor of Bloom syndrome: identity and relevance. ( 6505481 )
1984
503
Protease inhibitors reduce the frequency of spontaneous chromosome abnormalities in cells from patients with Bloom syndrome. ( 6584916 )
1984
504
Cytogenetic study in a mentally retarded child with Bloom syndrome and acute lymphoblastic leukemia. ( 6589956 )
1984
505
Heterozygous carriers for Bloom syndrome exhibit a spontaneously increased micronucleus formation in cultured fibroblasts. ( 6745925 )
1984
506
Studies on hyperthermic chemotherapy for cancer of the esophagus--especially the intraluminal administration with perfusion of BLM containing warmed saline solution. ( 6085463 )
1984
507
Establishment of B-lymphoid cell lines retaining cytogenetic characteristics of Bloom syndrome. ( 6303556 )
1983
508
Transformation of Bloom syndrome T-lymphocytes by cocultivation with a lethally irradiated human T-cell line carrying type C virus particles. ( 6305751 )
1983
509
Analyses of bromodeoxyuridine-associated sister chromatid exchanges (SCEs) in Bloom syndrome based on cell fusion: single and twin SCEs in endoreduplication. ( 6308619 )
1983
510
Effect of poly(ADP-ribose)polymerase inhibitors on the frequency of sister-chromatid exchanges in Bloom syndrome cells. ( 6318100 )
1983
511
Hereditary lecithin-cholesterol acyltransferase deficiency and Bloom syndrome in the same individual. ( 6859101 )
1983
512
The effect of aphidicolin on the rate of DNA replication and unscheduled DNA synthesis of Bloom syndrome and normal fibroblasts. ( 6809595 )
1982
513
Effects of temperature on sister chromatid exchange in Bloom syndrome cells. ( 6818087 )
1982
514
12-O-tetradecanoylphorbol 13-acetate-inducible proteins are synthesized at an increased rate in Bloom syndrome fibroblasts. ( 6961458 )
1982
515
SCE in Bloom syndrome B and T lymphocytes. ( 6980066 )
1982
516
Analysis of single and twin sister chromatid exchanges in endoreduplicated normal and Bloom syndrome B-lymphoid cells. ( 6984382 )
1982
517
Bloom syndrome fibroblasts secrete a metabolite which enhances SCE rate in normal fibroblasts. ( 7102727 )
1982
518
Bleomycin and mitomycin-C (BLM-M) in recurrent squamous uterine cervical carcinoma. ( 6176311 )
1982
519
Mutagen-induced sister chromatid exchange rate in Bloom syndrome remains unaltered in the presence of Bloom corrective factor. ( 6799385 )
1981
520
Clastogenic activity from Bloom syndrome fibroblast cultures. ( 6940194 )
1981
521
Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. ( 6942420 )
1981
522
Normalization by cell fusion of sister chromatid exchange in Bloom syndrome lymphocytes. ( 7221565 )
1981
523
Tendency to high levels of UVR-induced unscheduled DNA synthesis in Bloom syndrome. ( 7242543 )
1981
524
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect. ( 7325155 )
1981
525
Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts. ( 7386453 )
1980
526
Effects of caffeine-pretreatment on SCE and chromosome aberrations induced by monofunctional- and bifunctional-mitomycin C in Bloom syndrome lymphocytes. ( 7442695 )
1980
527
Immune responses in four patients with Bloom syndrome. ( 421370 )
1979
528
Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells. ( 437776 )
1979
529
Reaction of FeBlm with DNA: Fe(II)Blm-NO. ( 92990 )
1979
530
Bilayer lipid membranes (BLM) study of antigen-antibody interactions. ( 555462 )
1978
531
[Bloom syndrome: review and definition]. ( 700567 )
1978
532
Chromatid exchanges in ataxia telangiectasia, Bloom syndrome, Werner syndrome, and xeroderma pigmentosum. ( 962324 )
1976
533
The interaction of hashish compounds with planar lipid bilayer membranes (BLM). ( 938548 )
1976
534
Black lipid membranes (BLM) containing crystalline chlorophyll. ( 1208666 )
1975
535
Proceedings: Bloom syndrome. ( 4814951 )
1974
536
Characterization of photovoltage transients in a chloroplast BLM. ( 4436294 )
1974
537
Questionable bloom syndrome in a Negro girl. ( 5052410 )
1972
538
Treatment of cancer of the female genital organs with a new anti-cancer agent, Bleomycin (BLM). ( 5431867 )
1970
539
Black lipid membranes (BLM) in aqueous media. Photoelectric spectroscopy. ( 5505701 )
1970
540
Formation of black lipid membranes (BLM) from extracts of spinach leaves. ( 5722215 )
1968

Variations for Bloom Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bloom Syndrome:

76 (showing 8, show less)
# Symbol AA change Variation ID SNP ID
1 BLM p.Gln672Arg VAR_006901 rs747281324
2 BLM p.Thr843Ile VAR_006902 rs137853152
3 BLM p.Cys1055Ser VAR_006903 rs367543029
4 BLM p.Gly891Glu VAR_009138
5 BLM p.Cys901Tyr VAR_009139 rs758311406
6 BLM p.Cys1036Phe VAR_009140 rs137853153
7 BLM p.Ile841Thr VAR_016032 rs767086502
8 BLM p.Cys878Arg VAR_016033

ClinVar genetic disease variations for Bloom Syndrome:

6 (showing 1408, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 BLM NM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) indel Pathogenic rs113993962 GRCh37 Chromosome 15, 91310153: 91310158
2 BLM NM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) indel Pathogenic rs113993962 GRCh38 Chromosome 15, 90766923: 90766928
3 BLM NM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer) deletion Pathogenic rs367543035 GRCh37 Chromosome 15, 91293055: 91293057
4 BLM NM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer) deletion Pathogenic rs367543035 GRCh38 Chromosome 15, 90749825: 90749827
5 BLM NM_000057.3(BLM): c.3107G> T (p.Cys1036Phe) single nucleotide variant Pathogenic rs137853153 GRCh37 Chromosome 15, 91337484: 91337484
6 BLM NM_000057.3(BLM): c.3107G> T (p.Cys1036Phe) single nucleotide variant Pathogenic rs137853153 GRCh38 Chromosome 15, 90794254: 90794254
7 BLM NM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs) deletion Pathogenic rs367543020 GRCh37 Chromosome 15, 91347519: 91347519
8 BLM NM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs) deletion Pathogenic rs367543020 GRCh38 Chromosome 15, 90804289: 90804289
9 BLM NM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs) duplication Pathogenic rs367543021 GRCh37 Chromosome 15, 91347565: 91347565
10 BLM NM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs) duplication Pathogenic rs367543021 GRCh38 Chromosome 15, 90804335: 90804335
11 BLM NM_000057.3(BLM): c.2074+1G> T single nucleotide variant Likely pathogenic rs367543036 GRCh38 Chromosome 15, 90763158: 90763158
12 BLM NM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs) deletion Pathogenic rs367543018 GRCh38 Chromosome 15, 90804195: 90804195
13 BLM NM_000057.3(BLM): c.1088-2A> G single nucleotide variant Pathogenic rs367543015 GRCh37 Chromosome 15, 91303375: 91303375
14 BLM NM_000057.3(BLM): c.1088-2A> G single nucleotide variant Pathogenic rs367543015 GRCh38 Chromosome 15, 90760145: 90760145
15 BLM NM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs) duplication Pathogenic rs367543043 GRCh37 Chromosome 15, 91304147: 91304147
16 BLM NM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs) duplication Pathogenic rs367543043 GRCh38 Chromosome 15, 90760917: 90760917
17 BLM NM_000057.3(BLM): c.1628T> A (p.Leu543Ter) single nucleotide variant Pathogenic rs367543038 GRCh37 Chromosome 15, 91304231: 91304231
18 BLM NM_000057.3(BLM): c.1628T> A (p.Leu543Ter) single nucleotide variant Pathogenic rs367543038 GRCh38 Chromosome 15, 90761001: 90761001
19 BLM NM_000057.3(BLM): c.2074+1G> T single nucleotide variant Likely pathogenic rs367543036 GRCh37 Chromosome 15, 91306388: 91306388
20 BLM NM_000057.3(BLM): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs367543028 GRCh37 Chromosome 15, 91308549: 91308549
21 BLM NM_000057.3(BLM): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs367543028 GRCh38 Chromosome 15, 90765319: 90765319
22 BLM NM_000057.3(BLM): c.2193+2T> G single nucleotide variant Pathogenic rs367543040 GRCh37 Chromosome 15, 91308646: 91308646
23 BLM NM_000057.3(BLM): c.2193+2T> G single nucleotide variant Pathogenic rs367543040 GRCh38 Chromosome 15, 90765416: 90765416
24 BLM NM_000057.2(BLM): c.2308-953_2555+4719del deletion Pathogenic GRCh37 Chromosome 15, 91311410: 91317535
25 BLM NM_000057.2(BLM): c.2308-953_2555+4719del deletion Pathogenic GRCh38 Chromosome 15, 90768180: 90774305
26 BLM NM_000057.3(BLM): c.2406+2T> G single nucleotide variant Pathogenic rs367543016 GRCh37 Chromosome 15, 91312463: 91312463
27 BLM NM_000057.3(BLM): c.2406+2T> G single nucleotide variant Pathogenic rs367543016 GRCh38 Chromosome 15, 90769233: 90769233
28 BLM NM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs) deletion Pathogenic rs367543024 GRCh37 Chromosome 15, 91312767: 91312768
29 BLM NM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs) deletion Pathogenic rs367543024 GRCh38 Chromosome 15, 90769537: 90769538
30 BLM NM_000057.3(BLM): c.2643G> A (p.Trp881Ter) single nucleotide variant Pathogenic rs367543039 GRCh37 Chromosome 15, 91326139: 91326139
31 BLM NM_000057.3(BLM): c.2643G> A (p.Trp881Ter) single nucleotide variant Pathogenic rs367543039 GRCh38 Chromosome 15, 90782909: 90782909
32 BLM NM_000057.3(BLM): c.275delA (p.Asn92Metfs) deletion Pathogenic rs367543027 GRCh37 Chromosome 15, 91292773: 91292773
33 BLM NM_000057.3(BLM): c.275delA (p.Asn92Metfs) deletion Pathogenic rs367543027 GRCh38 Chromosome 15, 90749543: 90749543
34 BLM NM_000057.3(BLM): c.2855G> T (p.Gly952Val) single nucleotide variant Pathogenic rs367543034 GRCh37 Chromosome 15, 91333910: 91333910
35 BLM NM_000057.3(BLM): c.2855G> T (p.Gly952Val) single nucleotide variant Pathogenic rs367543034 GRCh38 Chromosome 15, 90790680: 90790680
36 BLM NM_000057.3(BLM): c.2887C> T (p.His963Tyr) single nucleotide variant Pathogenic rs367543023 GRCh37 Chromosome 15, 91333942: 91333942
37 BLM NM_000057.3(BLM): c.2887C> T (p.His963Tyr) single nucleotide variant Pathogenic rs367543023 GRCh38 Chromosome 15, 90790712: 90790712
38 BLM NM_000057.3(BLM): c.2923delC (p.Gln975Lysfs) deletion Pathogenic rs367543014 GRCh37 Chromosome 15, 91333978: 91333978
39 BLM NM_000057.3(BLM): c.2923delC (p.Gln975Lysfs) deletion Pathogenic rs367543014 GRCh38 Chromosome 15, 90790748: 90790748
40 BLM NM_000057.3(BLM): c.311C> A (p.Ser104Ter) single nucleotide variant Pathogenic rs367543030 GRCh37 Chromosome 15, 91292809: 91292809
41 BLM NM_000057.3(BLM): c.311C> A (p.Ser104Ter) single nucleotide variant Pathogenic rs367543030 GRCh38 Chromosome 15, 90749579: 90749579
42 BLM NM_000057.3(BLM): c.3164G> C (p.Cys1055Ser) single nucleotide variant Pathogenic/Likely pathogenic rs367543029 GRCh37 Chromosome 15, 91337541: 91337541
43 BLM NM_000057.3(BLM): c.3164G> C (p.Cys1055Ser) single nucleotide variant Pathogenic/Likely pathogenic rs367543029 GRCh38 Chromosome 15, 90794311: 90794311
44 BLM NM_000057.3(BLM): c.3191A> T (p.Asp1064Val) single nucleotide variant Pathogenic rs367543032 GRCh37 Chromosome 15, 91337568: 91337568
45 BLM NM_000057.3(BLM): c.3191A> T (p.Asp1064Val) single nucleotide variant Pathogenic rs367543032 GRCh38 Chromosome 15, 90794338: 90794338
46 BLM NM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr) single nucleotide variant Pathogenic rs367543025 GRCh37 Chromosome 15, 91337574: 91337574
47 BLM NM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr) single nucleotide variant Pathogenic rs367543025 GRCh38 Chromosome 15, 90794344: 90794344
48 BLM NM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs) duplication Pathogenic rs367543022 GRCh37 Chromosome 15, 91341432: 91341432
49 BLM NM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs) duplication Pathogenic rs367543022 GRCh38 Chromosome 15, 90798202: 90798202
50 BLM NM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs) insertion Pathogenic rs367543037 GRCh37 Chromosome 15, 91341464: 91341465
51 BLM NM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs) insertion Pathogenic rs367543037 GRCh38 Chromosome 15, 90798234: 90798235
52 BLM NM_000057.3(BLM): c.3278C> G (p.Ser1093Ter) single nucleotide variant Pathogenic rs367543017 GRCh37 Chromosome 15, 91341487: 91341487
53 BLM NM_000057.3(BLM): c.3278C> G (p.Ser1093Ter) single nucleotide variant Pathogenic rs367543017 GRCh38 Chromosome 15, 90798257: 90798257
54 BLM NM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs) deletion Likely pathogenic rs367543033 GRCh37 Chromosome 15, 91346867: 91346868
55 BLM NM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs) deletion Likely pathogenic rs367543033 GRCh38 Chromosome 15, 90803637: 90803638
56 BLM NM_000057.3(BLM): c.3558+1G> A single nucleotide variant Pathogenic rs148969222 GRCh37 Chromosome 15, 91346951: 91346951
57 BLM NM_000057.3(BLM): c.3558+1G> A single nucleotide variant Pathogenic rs148969222 GRCh38 Chromosome 15, 90803721: 90803721
58 BLM NM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs) deletion Pathogenic rs367543018 GRCh37 Chromosome 15, 91347425: 91347425
59 BLM NM_000057.3(BLM): c.3847C> T (p.Gln1283Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367543031 GRCh37 Chromosome 15, 91352462: 91352462
60 BLM NM_000057.3(BLM): c.3847C> T (p.Gln1283Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367543031 GRCh38 Chromosome 15, 90809232: 90809232
61 BLM NM_000057.3(BLM): c.582delT (p.Phe194Leufs) deletion Pathogenic rs367543026 GRCh37 Chromosome 15, 91293080: 91293080
62 BLM NM_000057.3(BLM): c.582delT (p.Phe194Leufs) deletion Pathogenic rs367543026 GRCh38 Chromosome 15, 90749850: 90749850
63 BLM NM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs) deletion Pathogenic/Likely pathogenic rs367543013 GRCh37 Chromosome 15, 91293270: 91293271
64 BLM NM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs) deletion Pathogenic/Likely pathogenic rs367543013 GRCh38 Chromosome 15, 90750040: 90750041
65 BLM NM_000057.3(BLM): c.3751-?_*(177_?)del deletion Pathogenic GRCh37 Chromosome 15, 91347589: 91358686
66 BLM NM_000057.3(BLM): c.3751-?_*(177_?)del deletion Pathogenic GRCh38 Chromosome 15, 90804359: 90815456
67 BLM NM_000057.2(BLM): c.2407dupT (p.Trp803Leufs) duplication Pathogenic rs367543012 GRCh37 Chromosome 15, 91312668: 91312668
68 BLM NM_000057.2(BLM): c.2407dupT (p.Trp803Leufs) duplication Pathogenic rs367543012 GRCh38 Chromosome 15, 90769438: 90769438
69 BLM NM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs) duplication Pathogenic/Likely pathogenic rs367543019 GRCh37 Chromosome 15, 91312749: 91312749
70 BLM NM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs) duplication Pathogenic/Likely pathogenic rs367543019 GRCh38 Chromosome 15, 90769519: 90769519
71 BLM NM_000057.3(BLM): c.1978C> T (p.His660Tyr) single nucleotide variant Uncertain significance rs139688226 GRCh37 Chromosome 15, 91306291: 91306291
72 BLM NM_000057.3(BLM): c.1978C> T (p.His660Tyr) single nucleotide variant Uncertain significance rs139688226 GRCh38 Chromosome 15, 90763061: 90763061
73 BLM NM_000057.3(BLM): c.1978C> T (p.His660Tyr) single nucleotide variant Uncertain significance rs139688226 NCBI36 Chromosome 15, 89107295: 89107295
74 BLM NM_000057.3(BLM): c.4122C> T (p.Ser1374=) single nucleotide variant Likely benign rs145277875 GRCh37 Chromosome 15, 91358377: 91358377
75 BLM NM_000057.3(BLM): c.4122C> T (p.Ser1374=) single nucleotide variant Likely benign rs145277875 GRCh38 Chromosome 15, 90815147: 90815147
76 BLM NM_000057.3(BLM): c.4122C> T (p.Ser1374=) single nucleotide variant Likely benign rs145277875 NCBI36 Chromosome 15, 89159381: 89159381
77 BLM NM_000057.3(BLM): c.2555+7T> C single nucleotide variant Benign rs3815003 GRCh37 Chromosome 15, 91312823: 91312823
78 BLM NM_000057.3(BLM): c.2555+7T> C single nucleotide variant Benign rs3815003 GRCh38 Chromosome 15, 90769593: 90769593
79 BLM NM_000057.3(BLM): c.2603C> T (p.Pro868Leu) single nucleotide variant Benign/Likely benign rs2227935 GRCh37 Chromosome 15, 91326099: 91326099
80 BLM NM_000057.3(BLM): c.2603C> T (p.Pro868Leu) single nucleotide variant Benign/Likely benign rs2227935 GRCh38 Chromosome 15, 90782869: 90782869
81 BLM NM_000057.3(BLM): c.3102G> A (p.Thr1034=) single nucleotide variant Benign/Likely benign rs2227933 GRCh37 Chromosome 15, 91337479: 91337479
82 BLM NM_000057.3(BLM): c.3102G> A (p.Thr1034=) single nucleotide variant Benign/Likely benign rs2227933 GRCh38 Chromosome 15, 90794249: 90794249
83 BLM NM_000057.3(BLM): c.3531C> A (p.Ala1177=) single nucleotide variant Benign/Likely benign rs2227934 GRCh37 Chromosome 15, 91346923: 91346923
84 BLM NM_000057.3(BLM): c.3531C> A (p.Ala1177=) single nucleotide variant Benign/Likely benign rs2227934 GRCh38 Chromosome 15, 90803693: 90803693
85 BLM NM_000057.3(BLM): c.3945C> T (p.Leu1315=) single nucleotide variant Benign/Likely benign rs1063147 GRCh37 Chromosome 15, 91354505: 91354505
86 BLM NM_000057.3(BLM): c.3945C> T (p.Leu1315=) single nucleotide variant Benign/Likely benign rs1063147 GRCh38 Chromosome 15, 90811275: 90811275
87 BLM NM_000057.3(BLM): c.893C> T (p.Thr298Met) single nucleotide variant Benign/Likely benign rs28384991 GRCh37 Chromosome 15, 91295110: 91295110
88 BLM NM_000057.3(BLM): c.893C> T (p.Thr298Met) single nucleotide variant Benign/Likely benign rs28384991 GRCh38 Chromosome 15, 90751880: 90751880
89 BLM NM_000057.3(BLM): c.1097T> C (p.Ile366Thr) single nucleotide variant Uncertain significance rs571152089 GRCh38 Chromosome 15, 90760156: 90760156
90 BLM NM_000057.3(BLM): c.1097T> C (p.Ile366Thr) single nucleotide variant Uncertain significance rs571152089 GRCh37 Chromosome 15, 91303386: 91303386
91 BLM NM_000057.3(BLM): c.11T> C (p.Val4Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144706057 GRCh38 Chromosome 15, 90747403: 90747403
92 BLM NM_000057.3(BLM): c.11T> C (p.Val4Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144706057 GRCh37 Chromosome 15, 91290633: 91290633
93 BLM NM_000057.3(BLM): c.1315A> G (p.Met439Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201231857 GRCh38 Chromosome 15, 90760688: 90760688
94 BLM NM_000057.3(BLM): c.1315A> G (p.Met439Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201231857 GRCh37 Chromosome 15, 91303918: 91303918
95 BLM NM_000057.3(BLM): c.1601A> G (p.Asn534Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs35224686 GRCh38 Chromosome 15, 90760974: 90760974
96 BLM NM_000057.3(BLM): c.1601A> G (p.Asn534Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs35224686 GRCh37 Chromosome 15, 91304204: 91304204
97 BLM NM_000057.3(BLM): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200389141 GRCh38 Chromosome 15, 90761015: 90761015
98 BLM NM_000057.3(BLM): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200389141 GRCh37 Chromosome 15, 91304245: 91304245
99 BLM NM_000057.3(BLM): c.191A> T (p.Asp64Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140382474 GRCh38 Chromosome 15, 90749459: 90749459
100 BLM NM_000057.3(BLM): c.191A> T (p.Asp64Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140382474 GRCh37 Chromosome 15, 91292689: 91292689
101 BLM NM_000057.3(BLM): c.1928G> A (p.Arg643His) single nucleotide variant Conflicting interpretations of pathogenicity rs12720097 GRCh38 Chromosome 15, 90763011: 90763011
102 BLM NM_000057.3(BLM): c.1928G> A (p.Arg643His) single nucleotide variant Conflicting interpretations of pathogenicity rs12720097 GRCh37 Chromosome 15, 91306241: 91306241
103 BLM NM_000057.3(BLM): c.2119C> T (p.Pro707Ser) single nucleotide variant Benign/Likely benign rs146077918 GRCh38 Chromosome 15, 90765340: 90765340
104 BLM NM_000057.3(BLM): c.2119C> T (p.Pro707Ser) single nucleotide variant Benign/Likely benign rs146077918 GRCh37 Chromosome 15, 91308570: 91308570
105 BLM NM_000057.3(BLM): c.2155C> T (p.Leu719Phe) single nucleotide variant Uncertain significance rs587779881 GRCh38 Chromosome 15, 90765376: 90765376
106 BLM NM_000057.3(BLM): c.2155C> T (p.Leu719Phe) single nucleotide variant Uncertain significance rs587779881 GRCh37 Chromosome 15, 91308606: 91308606
107 BLM NM_000057.3(BLM): c.2333C> G (p.Ser778Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139610577 GRCh38 Chromosome 15, 90769158: 90769158
108 BLM NM_000057.3(BLM): c.2333C> G (p.Ser778Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139610577 GRCh37 Chromosome 15, 91312388: 91312388
109 BLM NM_000057.3(BLM): c.2362C> A (p.Leu788Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149754073 GRCh38 Chromosome 15, 90769187: 90769187
110 BLM NM_000057.3(BLM): c.2362C> A (p.Leu788Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149754073 GRCh37 Chromosome 15, 91312417: 91312417
111 BLM NM_000057.3(BLM): c.2475G> A (p.Pro825=) single nucleotide variant Conflicting interpretations of pathogenicity rs147587050 GRCh38 Chromosome 15, 90769506: 90769506
112 BLM NM_000057.3(BLM): c.2475G> A (p.Pro825=) single nucleotide variant Conflicting interpretations of pathogenicity rs147587050 GRCh37 Chromosome 15, 91312736: 91312736
113 BLM NM_000057.3(BLM): c.254G> C (p.Arg85Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141503266 GRCh38 Chromosome 15, 90749522: 90749522
114 BLM NM_000057.3(BLM): c.254G> C (p.Arg85Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141503266 GRCh37 Chromosome 15, 91292752: 91292752
115 BLM NM_000057.3(BLM): c.2638G> C (p.Glu880Gln) single nucleotide variant Uncertain significance rs201770808 GRCh38 Chromosome 15, 90782904: 90782904
116 BLM NM_000057.3(BLM): c.2638G> C (p.Glu880Gln) single nucleotide variant Uncertain significance rs201770808 GRCh37 Chromosome 15, 91326134: 91326134
117 BLM NM_000057.3(BLM): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779884 GRCh38 Chromosome 15, 90784953: 90784953
118 BLM NM_000057.3(BLM): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779884 GRCh37 Chromosome 15, 91328183: 91328183
119 BLM NM_000057.3(BLM): c.2720C> T (p.Thr907Met) single nucleotide variant Uncertain significance rs367953471 GRCh38 Chromosome 15, 90784978: 90784978
120 BLM NM_000057.3(BLM): c.2720C> T (p.Thr907Met) single nucleotide variant Uncertain significance rs367953471 GRCh37 Chromosome 15, 91328208: 91328208
121 BLM NM_000057.3(BLM): c.274A> G (p.Asn92Asp) single nucleotide variant Uncertain significance rs200690226 GRCh38 Chromosome 15, 90749542: 90749542
122 BLM NM_000057.3(BLM): c.274A> G (p.Asn92Asp) single nucleotide variant Uncertain significance rs200690226 GRCh37 Chromosome 15, 91292772: 91292772
123 BLM NM_000057.3(BLM): c.3044C> T (p.Thr1015Ile) single nucleotide variant Uncertain significance rs202196488 GRCh38 Chromosome 15, 90794191: 90794191
124 BLM NM_000057.3(BLM): c.3044C> T (p.Thr1015Ile) single nucleotide variant Uncertain significance rs202196488 GRCh37 Chromosome 15, 91337421: 91337421
125 BLM NM_000057.3(BLM): c.3117A> G (p.Ile1039Met) single nucleotide variant Conflicting interpretations of pathogenicity rs576199850 GRCh38 Chromosome 15, 90794264: 90794264
126 BLM NM_000057.3(BLM): c.3117A> G (p.Ile1039Met) single nucleotide variant Conflicting interpretations of pathogenicity rs576199850 GRCh37 Chromosome 15, 91337494: 91337494
127 BLM NM_000057.3(BLM): c.3210+2delT deletion Pathogenic/Likely pathogenic rs587779886 GRCh38 Chromosome 15, 90794359: 90794359
128 BLM NM_000057.3(BLM): c.3210+2delT deletion Pathogenic/Likely pathogenic rs587779886 GRCh37 Chromosome 15, 91337589: 91337589
129 BLM NM_000057.3(BLM): c.3397A> G (p.Lys1133Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs145027663 GRCh38 Chromosome 15, 90803559: 90803559
130 BLM NM_000057.3(BLM): c.3397A> G (p.Lys1133Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs145027663 GRCh37 Chromosome 15, 91346789: 91346789
131 BLM NM_000057.3(BLM): c.3427G> A (p.Glu1143Lys) single nucleotide variant Uncertain significance rs140387675 GRCh38 Chromosome 15, 90803589: 90803589
132 BLM NM_000057.3(BLM): c.3427G> A (p.Glu1143Lys) single nucleotide variant Uncertain significance rs140387675 GRCh37 Chromosome 15, 91346819: 91346819
133 BLM NM_000057.3(BLM): c.3592G> A (p.Val1198Met) single nucleotide variant Likely benign rs142928725 GRCh38 Chromosome 15, 90804200: 90804200
134 BLM NM_000057.3(BLM): c.3592G> A (p.Val1198Met) single nucleotide variant Likely benign rs142928725 GRCh37 Chromosome 15, 91347430: 91347430
135 BLM NM_000057.3(BLM): c.3625T> A (p.Ser1209Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801256 GRCh38 Chromosome 15, 90804233: 90804233
136 BLM NM_000057.3(BLM): c.3625T> A (p.Ser1209Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801256 GRCh37 Chromosome 15, 91347463: 91347463
137 BLM NM_000057.3(BLM): c.3651A> T (p.Lys1217Asn) single nucleotide variant Uncertain significance rs587779887 GRCh38 Chromosome 15, 90804259: 90804259
138 BLM NM_000057.3(BLM): c.3651A> T (p.Lys1217Asn) single nucleotide variant Uncertain significance rs587779887 GRCh37 Chromosome 15, 91347489: 91347489
139 BLM NM_000057.3(BLM): c.368A> G (p.Gln123Arg) single nucleotide variant Uncertain significance rs371223446 GRCh38 Chromosome 15, 90749636: 90749636
140 BLM NM_000057.3(BLM): c.368A> G (p.Gln123Arg) single nucleotide variant Uncertain significance rs371223446 GRCh37 Chromosome 15, 91292866: 91292866
141 BLM NM_000057.3(BLM): c.3751G> C (p.Glu1251Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587779888 GRCh38 Chromosome 15, 90804359: 90804359
142 BLM NM_000057.3(BLM): c.3751G> C (p.Glu1251Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587779888 GRCh37 Chromosome 15, 91347589: 91347589
143 BLM NM_000057.3(BLM): c.3892G> A (p.Gly1298Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587779889 GRCh38 Chromosome 15, 90811222: 90811222
144 BLM NM_000057.3(BLM): c.3892G> A (p.Gly1298Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587779889 GRCh37 Chromosome 15, 91354452: 91354452
145 BLM NM_000057.3(BLM): c.3934G> A (p.Ala1312Thr) single nucleotide variant Uncertain significance rs527291754 GRCh38 Chromosome 15, 90811264: 90811264
146 BLM NM_000057.3(BLM): c.3934G> A (p.Ala1312Thr) single nucleotide variant Uncertain significance rs527291754 GRCh37 Chromosome 15, 91354494: 91354494
147 BLM NM_000057.3(BLM): c.3991A> G (p.Arg1331Gly) single nucleotide variant Uncertain significance rs150631940 GRCh38 Chromosome 15, 90811321: 90811321
148 BLM NM_000057.3(BLM): c.3991A> G (p.Arg1331Gly) single nucleotide variant Uncertain significance rs150631940 GRCh37 Chromosome 15, 91354551: 91354551
149 BLM NM_000057.3(BLM): c.403G> T (p.Ala135Ser) single nucleotide variant Uncertain significance rs373832397 GRCh38 Chromosome 15, 90749671: 90749671
150 BLM NM_000057.3(BLM): c.403G> T (p.Ala135Ser) single nucleotide variant Uncertain significance rs373832397 GRCh37 Chromosome 15, 91292901: 91292901
151 BLM NM_000057.3(BLM): c.4112C> T (p.Thr1371Met) single nucleotide variant Uncertain significance rs587779891 GRCh38 Chromosome 15, 90815137: 90815137
152 BLM NM_000057.3(BLM): c.4112C> T (p.Thr1371Met) single nucleotide variant Uncertain significance rs587779891 GRCh37 Chromosome 15, 91358367: 91358367
153 BLM NM_000057.3(BLM): c.4126A> G (p.Ile1376Val) single nucleotide variant Uncertain significance rs587779892 GRCh38 Chromosome 15, 90815151: 90815151
154 BLM NM_000057.3(BLM): c.4126A> G (p.Ile1376Val) single nucleotide variant Uncertain significance rs587779892 GRCh37 Chromosome 15, 91358381: 91358381
155 BLM NM_000057.3(BLM): c.542G> T (p.Ser181Ile) single nucleotide variant Uncertain significance rs587779893 GRCh38 Chromosome 15, 90749810: 90749810
156 BLM NM_000057.3(BLM): c.542G> T (p.Ser181Ile) single nucleotide variant Uncertain significance rs587779893 GRCh37 Chromosome 15, 91293040: 91293040
157 BLM NM_000057.3(BLM): c.696C> A (p.Ser232Arg) single nucleotide variant Uncertain significance rs201845548 GRCh38 Chromosome 15, 90749964: 90749964
158 BLM NM_000057.3(BLM): c.696C> A (p.Ser232Arg) single nucleotide variant Uncertain significance rs201845548 GRCh37 Chromosome 15, 91293194: 91293194
159 BLM NM_000057.3(BLM): c.715G> A (p.Asp239Asn) single nucleotide variant Uncertain significance rs200756519 GRCh38 Chromosome 15, 90749983: 90749983
160 BLM NM_000057.3(BLM): c.715G> A (p.Asp239Asn) single nucleotide variant Uncertain significance rs200756519 GRCh37 Chromosome 15, 91293213: 91293213
161 BLM NM_000057.3(BLM): c.819_821delGAA (p.Lys273del) deletion Uncertain significance rs587779895 GRCh38 Chromosome 15, 90751806: 90751808
162 BLM NM_000057.3(BLM): c.819_821delGAA (p.Lys273del) deletion Uncertain significance rs587779895 GRCh37 Chromosome 15, 91295036: 91295038
163 BLM NM_000057.3(BLM): c.842A> C (p.His281Pro) single nucleotide variant Uncertain significance rs202042636 GRCh38 Chromosome 15, 90751829: 90751829
164 BLM NM_000057.3(BLM): c.842A> C (p.His281Pro) single nucleotide variant Uncertain significance rs202042636 GRCh37 Chromosome 15, 91295059: 91295059
165 BLM NM_000057.3(BLM): c.968A> G (p.Lys323Arg) single nucleotide variant Uncertain significance rs146504061 GRCh38 Chromosome 15, 90754819: 90754819
166 BLM NM_000057.3(BLM): c.968A> G (p.Lys323Arg) single nucleotide variant Uncertain significance rs146504061 GRCh37 Chromosome 15, 91298049: 91298049
167 BLM NM_000057.3(BLM): c.3961G> A (p.Val1321Ile) single nucleotide variant Benign/Likely benign rs7167216 GRCh38 Chromosome 15, 90811291: 90811291
168 BLM NM_000057.3(BLM): c.3961G> A (p.Val1321Ile) single nucleotide variant Benign/Likely benign rs7167216 GRCh37 Chromosome 15, 91354521: 91354521
169 BLM NM_000057.3(BLM): c.2263A> G (p.Lys755Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs142551229 GRCh37 Chromosome 15, 91310209: 91310209
170 BLM NM_000057.3(BLM): c.2263A> G (p.Lys755Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs142551229 GRCh38 Chromosome 15, 90766979: 90766979
171 BLM NM_000057.3(BLM): c.2371C> T (p.Arg791Cys) single nucleotide variant Uncertain significance rs55880859 GRCh37 Chromosome 15, 91312426: 91312426
172 BLM NM_000057.3(BLM): c.2371C> T (p.Arg791Cys) single nucleotide variant Uncertain significance rs55880859 GRCh38 Chromosome 15, 90769196: 90769196
173 BLM NM_000057.3(BLM): c.2858T> C (p.Ile953Thr) single nucleotide variant Uncertain significance rs587778102 GRCh37 Chromosome 15, 91333913: 91333913
174 BLM NM_000057.3(BLM): c.2858T> C (p.Ile953Thr) single nucleotide variant Uncertain significance rs587778102 GRCh38 Chromosome 15, 90790683: 90790683
175 BLM NM_000057.3(BLM): c.3613G> A (p.Val1205Ile) single nucleotide variant Benign/Likely benign rs28385141 GRCh37 Chromosome 15, 91347451: 91347451
176 BLM NM_000057.3(BLM): c.3613G> A (p.Val1205Ile) single nucleotide variant Benign/Likely benign rs28385141 GRCh38 Chromosome 15, 90804221: 90804221
177 BLM NM_000057.3(BLM): c.98C> T (p.Ser33Leu) single nucleotide variant Uncertain significance rs139282091 GRCh37 Chromosome 15, 91290720: 91290720
178 BLM NM_000057.3(BLM): c.98C> T (p.Ser33Leu) single nucleotide variant Uncertain significance rs139282091 GRCh38 Chromosome 15, 90747490: 90747490
179 BLM NM_000057.3(BLM): c.410A> G (p.Lys137Arg) single nucleotide variant Benign/Likely benign rs28384988 GRCh37 Chromosome 15, 91292908: 91292908
180 BLM NM_000057.3(BLM): c.410A> G (p.Lys137Arg) single nucleotide variant Benign/Likely benign rs28384988 GRCh38 Chromosome 15, 90749678: 90749678
181 BLM NM_000057.3(BLM): c.419A> G (p.Glu140Gly) single nucleotide variant Benign/Likely benign rs35886055 GRCh37 Chromosome 15, 91292917: 91292917
182 BLM NM_000057.3(BLM): c.419A> G (p.Glu140Gly) single nucleotide variant Benign/Likely benign rs35886055 GRCh38 Chromosome 15, 90749687: 90749687
183 BLM NM_000057.3(BLM): c.178T> A (p.Leu60Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138542210 GRCh37 Chromosome 15, 91292676: 91292676
184 BLM NM_000057.3(BLM): c.178T> A (p.Leu60Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138542210 GRCh38 Chromosome 15, 90749446: 90749446
185 BLM NM_000057.3(BLM): c.847A> G (p.Thr283Ala) single nucleotide variant Uncertain significance rs149598003 GRCh37 Chromosome 15, 91295064: 91295064
186 BLM NM_000057.3(BLM): c.847A> G (p.Thr283Ala) single nucleotide variant Uncertain significance rs149598003 GRCh38 Chromosome 15, 90751834: 90751834
187 BLM NM_000057.3(BLM): c.1741A> G (p.Thr581Ala) single nucleotide variant Uncertain significance rs587778108 GRCh37 Chromosome 15, 91304344: 91304344
188 BLM NM_000057.3(BLM): c.1741A> G (p.Thr581Ala) single nucleotide variant Uncertain significance rs587778108 GRCh38 Chromosome 15, 90761114: 90761114
189 BLM NM_000057.3(BLM): c.1877A> T (p.Tyr626Phe) single nucleotide variant Uncertain significance rs374569385 GRCh37 Chromosome 15, 91304480: 91304480
190 BLM NM_000057.3(BLM): c.1877A> T (p.Tyr626Phe) single nucleotide variant Uncertain significance rs374569385 GRCh38 Chromosome 15, 90761250: 90761250
191 BLM NM_000057.3(BLM): c.1712T> C (p.Met571Thr) single nucleotide variant Uncertain significance rs587778109 GRCh37 Chromosome 15, 91304315: 91304315
192 BLM NM_000057.3(BLM): c.1712T> C (p.Met571Thr) single nucleotide variant Uncertain significance rs587778109 GRCh38 Chromosome 15, 90761085: 90761085
193 BLM NM_000057.3(BLM): c.1913A> C (p.Asn638Thr) single nucleotide variant Uncertain significance rs587778110 GRCh37 Chromosome 15, 91306226: 91306226
194 BLM NM_000057.3(BLM): c.1913A> C (p.Asn638Thr) single nucleotide variant Uncertain significance rs587778110 GRCh38 Chromosome 15, 90762996: 90762996
195 BLM NM_000057.3(BLM): c.174T> C (p.Pro58=) single nucleotide variant Benign/Likely benign rs576862402 GRCh38 Chromosome 15, 90749442: 90749442
196 BLM NM_000057.3(BLM): c.174T> C (p.Pro58=) single nucleotide variant Benign/Likely benign rs576862402 GRCh37 Chromosome 15, 91292672: 91292672
197 BLM NM_000057.3(BLM): c.465T> C (p.Asp155=) single nucleotide variant Benign/Likely benign rs185349681 GRCh38 Chromosome 15, 90749733: 90749733
198 BLM NM_000057.3(BLM): c.465T> C (p.Asp155=) single nucleotide variant Benign/Likely benign rs185349681 GRCh37 Chromosome 15, 91292963: 91292963
199 BLM NM_000057.3(BLM): c.615G> A (p.Lys205=) single nucleotide variant Benign/Likely benign rs28903082 GRCh38 Chromosome 15, 90749883: 90749883
200 BLM NM_000057.3(BLM): c.615G> A (p.Lys205=) single nucleotide variant Benign/Likely benign rs28903082 GRCh37 Chromosome 15, 91293113: 91293113
201 BLM NM_000057.3(BLM): c.1122T> C (p.His374=) single nucleotide variant Benign/Likely benign rs28385009 GRCh38 Chromosome 15, 90760181: 90760181
202 BLM NM_000057.3(BLM): c.1122T> C (p.His374=) single nucleotide variant Benign/Likely benign rs28385009 GRCh37 Chromosome 15, 91303411: 91303411
203 BLM NM_000057.3(BLM): c.1722A> G (p.Leu574=) single nucleotide variant Benign/Likely benign rs28385011 GRCh38 Chromosome 15, 90761095: 90761095
204 BLM NM_000057.3(BLM): c.1722A> G (p.Leu574=) single nucleotide variant Benign/Likely benign rs28385011 GRCh37 Chromosome 15, 91304325: 91304325
205 BLM NM_000057.3(BLM): c.2160C> T (p.Ile720=) single nucleotide variant Conflicting interpretations of pathogenicity rs28385028 GRCh38 Chromosome 15, 90765381: 90765381
206 BLM NM_000057.3(BLM): c.2160C> T (p.Ile720=) single nucleotide variant Conflicting interpretations of pathogenicity rs28385028 GRCh37 Chromosome 15, 91308611: 91308611
207 BLM NM_000057.3(BLM): c.2268A> G (p.Lys756=) single nucleotide variant Conflicting interpretations of pathogenicity rs146013879 GRCh38 Chromosome 15, 90766984: 90766984
208 BLM NM_000057.3(BLM): c.2268A> G (p.Lys756=) single nucleotide variant Conflicting interpretations of pathogenicity rs146013879 GRCh37 Chromosome 15, 91310214: 91310214
209 BLM NM_000057.3(BLM): c.3128C> A (p.Ala1043Asp) single nucleotide variant Benign/Likely benign rs2229035 GRCh37 Chromosome 15, 91337505: 91337505
210 BLM NM_000057.3(BLM): c.3128C> A (p.Ala1043Asp) single nucleotide variant Benign/Likely benign rs2229035 GRCh38 Chromosome 15, 90794275: 90794275
211 BLM NM_000057.3(BLM): c.3359-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs200250931 GRCh38 Chromosome 15, 90803508: 90803508
212 BLM NM_000057.3(BLM): c.3359-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs200250931 GRCh37 Chromosome 15, 91346738: 91346738
213 BLM NM_000057.3(BLM): c.3798T> G (p.Val1266=) single nucleotide variant Conflicting interpretations of pathogenicity rs138831180 GRCh38 Chromosome 15, 90809183: 90809183
214 BLM NM_000057.3(BLM): c.3798T> G (p.Val1266=) single nucleotide variant Conflicting interpretations of pathogenicity rs138831180 GRCh37 Chromosome 15, 91352413: 91352413
215 BLM NM_000057.3(BLM): c.3960C> T (p.Pro1320=) single nucleotide variant Conflicting interpretations of pathogenicity rs56009845 GRCh38 Chromosome 15, 90811290: 90811290
216 BLM NM_000057.3(BLM): c.3960C> T (p.Pro1320=) single nucleotide variant Conflicting interpretations of pathogenicity rs56009845 GRCh37 Chromosome 15, 91354520: 91354520
217 BLM NM_000057.3(BLM): c.4076+4T> G single nucleotide variant Conflicting interpretations of pathogenicity rs183176301 GRCh38 Chromosome 15, 90811410: 90811410
218 BLM NM_000057.3(BLM): c.4076+4T> G single nucleotide variant Conflicting interpretations of pathogenicity rs183176301 GRCh37 Chromosome 15, 91354640: 91354640
219 BLM NM_000057.3(BLM): c.4077-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs145310008 GRCh38 Chromosome 15, 90815092: 90815092
220 BLM NM_000057.3(BLM): c.4077-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs145310008 GRCh37 Chromosome 15, 91358322: 91358322
221 BLM NM_000057.3(BLM): c.3415C> T (p.Arg1139Ter) single nucleotide variant Pathogenic rs587783037 GRCh38 Chromosome 15, 90803577: 90803577
222 BLM NM_000057.3(BLM): c.3415C> T (p.Arg1139Ter) single nucleotide variant Pathogenic rs587783037 GRCh37 Chromosome 15, 91346807: 91346807
223 BLM NM_000057.3(BLM): c.3949G> A (p.Glu1317Lys) single nucleotide variant Uncertain significance rs730880251 GRCh37 Chromosome 15, 91354509: 91354509
224 BLM NM_000057.3(BLM): c.3949G> A (p.Glu1317Lys) single nucleotide variant Uncertain significance rs730880251 GRCh38 Chromosome 15, 90811279: 90811279
225 BLM NM_000057.3(BLM): c.645C> T (p.Ser215=) single nucleotide variant Likely benign rs56218710 GRCh38 Chromosome 15, 90749913: 90749913
226 BLM NM_000057.3(BLM): c.645C> T (p.Ser215=) single nucleotide variant Likely benign rs56218710 GRCh37 Chromosome 15, 91293143: 91293143
227 BLM NM_000057.3(BLM): c.1358T> G (p.Leu453Ter) single nucleotide variant Pathogenic rs730881428 GRCh38 Chromosome 15, 90760731: 90760731
228 BLM NM_000057.3(BLM): c.1358T> G (p.Leu453Ter) single nucleotide variant Pathogenic rs730881428 GRCh37 Chromosome 15, 91303961: 91303961
229 BLM NM_000057.3(BLM): c.581_582delTT (p.Phe194Terfs) deletion Likely pathogenic rs367543026 GRCh38 Chromosome 15, 90749849: 90749850
230 BLM NM_000057.3(BLM): c.581_582delTT (p.Phe194Terfs) deletion Likely pathogenic rs367543026 GRCh37 Chromosome 15, 91293079: 91293080
231 BLM NM_000057.3(BLM): c.991_995delAAAGA (p.Lys331Glyfs) deletion Pathogenic/Likely pathogenic rs786204524 GRCh38 Chromosome 15, 90754842: 90754846
232 BLM NM_000057.3(BLM): c.991_995delAAAGA (p.Lys331Glyfs) deletion Pathogenic/Likely pathogenic rs786204524 GRCh37 Chromosome 15, 91298072: 91298076
233 BLM NM_000057.3(BLM): c.2015A> G (p.Gln672Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747281324 GRCh38 Chromosome 15, 90763098: 90763098
234 BLM NM_000057.3(BLM): c.2015A> G (p.Gln672Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747281324 GRCh37 Chromosome 15, 91306328: 91306328
235 BLM NM_000057.3(BLM): c.2250_2251insAAAT (p.Leu751Lysfs) insertion Pathogenic/Likely pathogenic rs786204471 GRCh38 Chromosome 15, 90766966: 90766967
236 BLM NM_000057.3(BLM): c.2250_2251insAAAT (p.Leu751Lysfs) insertion Pathogenic/Likely pathogenic rs786204471 GRCh37 Chromosome 15, 91310196: 91310197
237 BLM NM_000057.3(BLM): c.3028delG (p.Asp1010Metfs) deletion Pathogenic/Likely pathogenic rs780379121 GRCh38 Chromosome 15, 90794175: 90794175
238 BLM NM_000057.3(BLM): c.3028delG (p.Asp1010Metfs) deletion Pathogenic/Likely pathogenic rs780379121 GRCh37 Chromosome 15, 91337405: 91337405
239 BLM NM_000057.3(BLM): c.205G> A (p.Glu69Lys) single nucleotide variant Uncertain significance rs746195311 GRCh37 Chromosome 15, 91292703: 91292703
240 BLM NM_000057.3(BLM): c.205G> A (p.Glu69Lys) single nucleotide variant Uncertain significance rs746195311 GRCh38 Chromosome 15, 90749473: 90749473
241 BLM NM_001287246.1(BLM): c.3014_3015insTATCA (p.Met1006Ilefs) insertion Likely pathogenic rs797045115 GRCh38 Chromosome 15, 90790839: 90790840
242 BLM NM_001287246.1(BLM): c.3014_3015insTATCA (p.Met1006Ilefs) insertion Likely pathogenic rs797045115 GRCh37 Chromosome 15, 91334069: 91334070
243 BLM NM_000057.3(BLM): c.2580_2581delTA (p.His860Glnfs) deletion Pathogenic rs864622347 GRCh38 Chromosome 15, 90782846: 90782847
244 BLM NM_000057.3(BLM): c.2580_2581delTA (p.His860Glnfs) deletion Pathogenic rs864622347 GRCh37 Chromosome 15, 91326076: 91326077
245 BLM NM_000057.3(BLM): c.3558+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs148969222 GRCh37 Chromosome 15, 91346951: 91346951
246 BLM NM_000057.3(BLM): c.3558+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs148969222 GRCh38 Chromosome 15, 90803721: 90803721
247 BLM NM_000057.3(BLM): c.43C> T (p.Arg15Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs148545569 GRCh38 Chromosome 15, 90747435: 90747435
248 BLM NM_000057.3(BLM): c.43C> T (p.Arg15Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs148545569 GRCh37 Chromosome 15, 91290665: 91290665
249 BLM NM_000057.3(BLM): c.231A> G (p.Leu77=) single nucleotide variant Likely benign rs760696149 GRCh38 Chromosome 15, 90749499: 90749499
250 BLM NM_000057.3(BLM): c.231A> G (p.Leu77=) single nucleotide variant Likely benign rs760696149 GRCh37 Chromosome 15, 91292729: 91292729
251 BLM NM_000057.3(BLM): c.451A> G (p.Ile151Val) single nucleotide variant Uncertain significance rs780472557 GRCh37 Chromosome 15, 91292949: 91292949
252 BLM NM_000057.3(BLM): c.451A> G (p.Ile151Val) single nucleotide variant Uncertain significance rs780472557 GRCh38 Chromosome 15, 90749719: 90749719
253 BLM NM_000057.3(BLM): c.671A> G (p.Gln224Arg) single nucleotide variant Uncertain significance rs770111029 GRCh38 Chromosome 15, 90749939: 90749939
254 BLM NM_000057.3(BLM): c.671A> G (p.Gln224Arg) single nucleotide variant Uncertain significance rs770111029 GRCh37 Chromosome 15, 91293169: 91293169
255 BLM NM_000057.3(BLM): c.700G> A (p.Asp234Asn) single nucleotide variant Uncertain significance rs878853555 GRCh38 Chromosome 15, 90749968: 90749968
256 BLM NM_000057.3(BLM): c.700G> A (p.Asp234Asn) single nucleotide variant Uncertain significance rs878853555 GRCh37 Chromosome 15, 91293198: 91293198
257 BLM NM_000057.3(BLM): c.716A> G (p.Asp239Gly) single nucleotide variant Uncertain significance rs751699247 GRCh38 Chromosome 15, 90749984: 90749984
258 BLM NM_000057.3(BLM): c.716A> G (p.Asp239Gly) single nucleotide variant Uncertain significance rs751699247 GRCh37 Chromosome 15, 91293214: 91293214
259 BLM NM_000057.3(BLM): c.727A> G (p.Ile243Val) single nucleotide variant Uncertain significance rs201722470 GRCh38 Chromosome 15, 90749995: 90749995
260 BLM NM_000057.3(BLM): c.727A> G (p.Ile243Val) single nucleotide variant Uncertain significance rs201722470 GRCh37 Chromosome 15, 91293225: 91293225
261 BLM NM_000057.3(BLM): c.894G> A (p.Thr298=) single nucleotide variant Uncertain significance rs762144355 GRCh38 Chromosome 15, 90751881: 90751881
262 BLM NM_000057.3(BLM): c.894G> A (p.Thr298=) single nucleotide variant Uncertain significance rs762144355 GRCh37 Chromosome 15, 91295111: 91295111
263 BLM NM_000057.3(BLM): c.1086C> T (p.Asp362=) single nucleotide variant Conflicting interpretations of pathogenicity rs375632163 GRCh38 Chromosome 15, 90754937: 90754937
264 BLM NM_000057.3(BLM): c.1086C> T (p.Asp362=) single nucleotide variant Conflicting interpretations of pathogenicity rs375632163 GRCh37 Chromosome 15, 91298167: 91298167
265 BLM NM_000057.3(BLM): c.1194C> T (p.Asn398=) single nucleotide variant Likely benign rs202103556 GRCh38 Chromosome 15, 90760253: 90760253
266 BLM NM_000057.3(BLM): c.1194C> T (p.Asn398=) single nucleotide variant Likely benign rs202103556 GRCh37 Chromosome 15, 91303483: 91303483
267 BLM NM_000057.3(BLM): c.1467G> A (p.Arg489=) single nucleotide variant Conflicting interpretations of pathogenicity rs56257041 GRCh37 Chromosome 15, 91304070: 91304070
268 BLM NM_000057.3(BLM): c.1467G> A (p.Arg489=) single nucleotide variant Conflicting interpretations of pathogenicity rs56257041 GRCh38 Chromosome 15, 90760840: 90760840
269 BLM NM_000057.3(BLM): c.1469C> G (p.Pro490Arg) single nucleotide variant Uncertain significance rs878853553 GRCh37 Chromosome 15, 91304072: 91304072
270 BLM NM_000057.3(BLM): c.1469C> G (p.Pro490Arg) single nucleotide variant Uncertain significance rs878853553 GRCh38 Chromosome 15, 90760842: 90760842
271 BLM NM_000057.3(BLM): c.1496C> T (p.Ser499Phe) single nucleotide variant Uncertain significance rs778700833 GRCh38 Chromosome 15, 90760869: 90760869
272 BLM NM_000057.3(BLM): c.1496C> T (p.Ser499Phe) single nucleotide variant Uncertain significance rs778700833 GRCh37 Chromosome 15, 91304099: 91304099
273 BLM NM_000057.3(BLM): c.2604G> A (p.Pro868=) single nucleotide variant Likely benign rs768447097 GRCh37 Chromosome 15, 91326100: 91326100
274 BLM NM_000057.3(BLM): c.2604G> A (p.Pro868=) single nucleotide variant Likely benign rs768447097 GRCh38 Chromosome 15, 90782870: 90782870
275 BLM NM_000057.3(BLM): c.2822A> G (p.Gln941Arg) single nucleotide variant Uncertain significance rs762267785 GRCh37 Chromosome 15, 91328310: 91328310
276 BLM NM_000057.3(BLM): c.2822A> G (p.Gln941Arg) single nucleotide variant Uncertain significance rs762267785 GRCh38 Chromosome 15, 90785080: 90785080
277 BLM NM_000057.3(BLM): c.2838A> G (p.Thr946=) single nucleotide variant Conflicting interpretations of pathogenicity rs200850440 GRCh38 Chromosome 15, 90790663: 90790663
278 BLM NM_000057.3(BLM): c.2838A> G (p.Thr946=) single nucleotide variant Conflicting interpretations of pathogenicity rs200850440 GRCh37 Chromosome 15, 91333893: 91333893
279 BLM NM_000057.3(BLM): c.2871C> T (p.Asp957=) single nucleotide variant Likely benign rs878853554 GRCh37 Chromosome 15, 91333926: 91333926
280 BLM NM_000057.3(BLM): c.2871C> T (p.Asp957=) single nucleotide variant Likely benign rs878853554 GRCh38 Chromosome 15, 90790696: 90790696
281 BLM NM_000057.3(BLM): c.2950G> A (p.Gly984Arg) single nucleotide variant Uncertain significance rs755784410 GRCh37 Chromosome 15, 91334005: 91334005
282 BLM NM_000057.3(BLM): c.2950G> A (p.Gly984Arg) single nucleotide variant Uncertain significance rs755784410 GRCh38 Chromosome 15, 90790775: 90790775
283 BLM NM_000057.3(BLM): c.3041A> G (p.His1014Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145022945 GRCh38 Chromosome 15, 90794188: 90794188
284 BLM NM_000057.3(BLM): c.3041A> G (p.His1014Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145022945 GRCh37 Chromosome 15, 91337418: 91337418
285 BLM NM_000057.3(BLM): c.3210+4A> G single nucleotide variant Uncertain significance rs776621429 GRCh38 Chromosome 15, 90794361: 90794361
286 BLM NM_000057.3(BLM): c.3210+4A> G single nucleotide variant Uncertain significance rs776621429 GRCh37 Chromosome 15, 91337591: 91337591
287 BLM NM_000057.3(BLM): c.3238G> A (p.Asp1080Asn) single nucleotide variant Uncertain significance rs771767745 GRCh37 Chromosome 15, 91341447: 91341447
288 BLM NM_000057.3(BLM): c.3238G> A (p.Asp1080Asn) single nucleotide variant Uncertain significance rs771767745 GRCh38 Chromosome 15, 90798217: 90798217
289 BLM NM_000057.3(BLM): c.3242T> A (p.Val1081Glu) single nucleotide variant Uncertain significance rs762716289 GRCh38 Chromosome 15, 90798221: 90798221
290 BLM NM_000057.3(BLM): c.3242T> A (p.Val1081Glu) single nucleotide variant Uncertain significance rs762716289 GRCh37 Chromosome 15, 91341451: 91341451
291 BLM NM_000057.3(BLM): c.3272A> G (p.His1091Arg) single nucleotide variant Uncertain significance rs750954124 GRCh38 Chromosome 15, 90798251: 90798251
292 BLM NM_000057.3(BLM): c.3272A> G (p.His1091Arg) single nucleotide variant Uncertain significance rs750954124 GRCh37 Chromosome 15, 91341481: 91341481
293 BLM NM_000057.3(BLM): c.3310G> A (p.Gly1104Ser) single nucleotide variant Uncertain significance rs141269464 GRCh38 Chromosome 15, 90798289: 90798289
294 BLM NM_000057.3(BLM): c.3310G> A (p.Gly1104Ser) single nucleotide variant Uncertain significance rs141269464 GRCh37 Chromosome 15, 91341519: 91341519
295 BLM NM_000057.3(BLM): c.3729C> T (p.Thr1243=) single nucleotide variant Likely benign rs747293738 GRCh38 Chromosome 15, 90804337: 90804337
296 BLM NM_000057.3(BLM): c.3729C> T (p.Thr1243=) single nucleotide variant Likely benign rs747293738 GRCh37 Chromosome 15, 91347567: 91347567
297 BLM NM_000057.3(BLM): c.3751+9A> C single nucleotide variant Conflicting interpretations of pathogenicity rs774368488 GRCh38 Chromosome 15, 90804368: 90804368
298 BLM NM_000057.3(BLM): c.3751+9A> C single nucleotide variant Conflicting interpretations of pathogenicity rs774368488 GRCh37 Chromosome 15, 91347598: 91347598
299 BLM NM_000057.3(BLM): c.3849G> A (p.Gln1283=) single nucleotide variant Conflicting interpretations of pathogenicity rs140524886 GRCh38 Chromosome 15, 90809234: 90809234
300 BLM NM_000057.3(BLM): c.3849G> A (p.Gln1283=) single nucleotide variant Conflicting interpretations of pathogenicity rs140524886 GRCh37 Chromosome 15, 91352464: 91352464
301 BLM NM_000057.3(BLM): c.3879A> G (p.Glu1293=) single nucleotide variant Conflicting interpretations of pathogenicity rs28377085 GRCh38 Chromosome 15, 90811209: 90811209
302 BLM NM_000057.3(BLM): c.3879A> G (p.Glu1293=) single nucleotide variant Conflicting interpretations of pathogenicity rs28377085 GRCh37 Chromosome 15, 91354439: 91354439
303 BLM NM_000057.3(BLM): c.4186T> C (p.Leu1396=) single nucleotide variant Likely benign rs376734461 GRCh37 Chromosome 15, 91358441: 91358441
304 BLM NM_000057.3(BLM): c.4186T> C (p.Leu1396=) single nucleotide variant Likely benign rs376734461 GRCh38 Chromosome 15, 90815211: 90815211
305 BLM NM_000057.3(BLM): c.759G> A (p.Gln253=) single nucleotide variant Likely benign rs34580216 GRCh37 Chromosome 15, 91293257: 91293257
306 BLM NM_000057.3(BLM): c.759G> A (p.Gln253=) single nucleotide variant Likely benign rs34580216 GRCh38 Chromosome 15, 90750027: 90750027
307 BLM NM_000057.3(BLM): c.2515A> G (p.Lys839Glu) single nucleotide variant Uncertain significance rs201427280 GRCh37 Chromosome 15, 91312776: 91312776
308 BLM NM_000057.3(BLM): c.2515A> G (p.Lys839Glu) single nucleotide variant Uncertain significance rs201427280 GRCh38 Chromosome 15, 90769546: 90769546
309 BLM NM_000057.3(BLM): c.191A> C (p.Asp64Ala) single nucleotide variant Uncertain significance rs140382474 GRCh37 Chromosome 15, 91292689: 91292689
310 BLM NM_000057.3(BLM): c.191A> C (p.Asp64Ala) single nucleotide variant Uncertain significance rs140382474 GRCh38 Chromosome 15, 90749459: 90749459
311 BLM NM_000057.3(BLM): c.2919C> T (p.Tyr973=) single nucleotide variant Conflicting interpretations of pathogenicity rs181161119 GRCh37 Chromosome 15, 91333974: 91333974
312 BLM NM_000057.3(BLM): c.2919C> T (p.Tyr973=) single nucleotide variant Conflicting interpretations of pathogenicity rs181161119 GRCh38 Chromosome 15, 90790744: 90790744
313 BLM NM_000057.3(BLM): c.3827C> A (p.Ala1276Glu) single nucleotide variant Uncertain significance rs760554566 GRCh38 Chromosome 15, 90809212: 90809212
314 BLM NM_000057.3(BLM): c.3827C> A (p.Ala1276Glu) single nucleotide variant Uncertain significance rs760554566 GRCh37 Chromosome 15, 91352442: 91352442
315 BLM NM_000057.3(BLM): c.3418C> T (p.His1140Tyr) single nucleotide variant Uncertain significance rs746602812 GRCh38 Chromosome 15, 90803580: 90803580
316 BLM NM_000057.3(BLM): c.3418C> T (p.His1140Tyr) single nucleotide variant Uncertain significance rs746602812 GRCh37 Chromosome 15, 91346810: 91346810
317 BLM NM_000057.3(BLM): c.3930T> G (p.Ser1310Arg) single nucleotide variant Uncertain significance rs886051552 GRCh38 Chromosome 15, 90811260: 90811260
318 BLM NM_000057.3(BLM): c.3930T> G (p.Ser1310Arg) single nucleotide variant Uncertain significance rs886051552 GRCh37 Chromosome 15, 91354490: 91354490
319 BLM NM_000057.3(BLM): c.-70G> T single nucleotide variant Uncertain significance rs552669203 GRCh37 Chromosome 15, 91260606: 91260606
320 BLM NM_000057.3(BLM): c.-70G> T single nucleotide variant Uncertain significance rs552669203 GRCh38 Chromosome 15, 90717375: 90717375
321 BLM NM_000057.3(BLM): c.-65C> T single nucleotide variant Uncertain significance rs577293550 GRCh37 Chromosome 15, 91260611: 91260611
322 BLM NM_000057.3(BLM): c.-65C> T single nucleotide variant Uncertain significance rs577293550 GRCh38 Chromosome 15, 90717380: 90717380
323 BLM NM_000057.3(BLM): c.98+6T> G single nucleotide variant Uncertain significance rs886051550 GRCh37 Chromosome 15, 91290726: 91290726
324 BLM NM_000057.3(BLM): c.98+6T> G single nucleotide variant Uncertain significance rs886051550 GRCh38 Chromosome 15, 90747496: 90747496
325 BLM NM_000057.3(BLM): c.2206dupT (p.Tyr736Leufs) duplication Pathogenic rs886051551 GRCh37 Chromosome 15, 91310152: 91310152
326 BLM NM_000057.3(BLM): c.2206dupT (p.Tyr736Leufs) duplication Pathogenic rs886051551 GRCh38 Chromosome 15, 90766922: 90766922
327 BLM NM_000057.3(BLM): c.2739C> T (p.Leu913=) single nucleotide variant Conflicting interpretations of pathogenicity rs759223856 GRCh38 Chromosome 15, 90784997: 90784997
328 BLM NM_000057.3(BLM): c.2739C> T (p.Leu913=) single nucleotide variant Conflicting interpretations of pathogenicity rs759223856 GRCh37 Chromosome 15, 91328227: 91328227
329 BLM NM_000057.3(BLM): c.3751+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199685140 GRCh38 Chromosome 15, 90804369: 90804369
330 BLM NM_000057.3(BLM): c.3751+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199685140 GRCh37 Chromosome 15, 91347599: 91347599
331 BLM NM_000057.3(BLM): c.*77T> A single nucleotide variant Uncertain significance rs116293756 GRCh38 Chromosome 15, 90815356: 90815356
332 BLM NM_000057.3(BLM): c.*77T> A single nucleotide variant Uncertain significance rs116293756 GRCh37 Chromosome 15, 91358586: 91358586
333 BLM NM_000057.3(BLM): c.*108C> T single nucleotide variant Uncertain significance rs28363374 GRCh38 Chromosome 15, 90815387: 90815387
334 BLM NM_000057.3(BLM): c.*108C> T single nucleotide variant Uncertain significance rs28363374 GRCh37 Chromosome 15, 91358617: 91358617
335 BLM NM_000057.3(BLM): c.-29C> T single nucleotide variant Uncertain significance rs886051549 GRCh37 Chromosome 15, 91260647: 91260647
336 BLM NM_000057.3(BLM): c.-29C> T single nucleotide variant Uncertain significance rs886051549 GRCh38 Chromosome 15, 90717416: 90717416
337 BLM NM_000057.3(BLM): c.3071A> G (p.Tyr1024Cys) single nucleotide variant Uncertain significance rs201676342 GRCh38 Chromosome 15, 90794218: 90794218
338 BLM NM_000057.3(BLM): c.3071A> G (p.Tyr1024Cys) single nucleotide variant Uncertain significance rs201676342 GRCh37 Chromosome 15, 91337448: 91337448
339 BLM NM_000057.3(BLM): c.4251A> C (p.Ser1417=) single nucleotide variant Conflicting interpretations of pathogenicity rs886051553 GRCh38 Chromosome 15, 90815276: 90815276
340 BLM NM_000057.3(BLM): c.4251A> C (p.Ser1417=) single nucleotide variant Conflicting interpretations of pathogenicity rs886051553 GRCh37 Chromosome 15, 91358506: 91358506
341 BLM NM_000057.3(BLM): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1057516593 GRCh38 Chromosome 15, 90747394: 90747394
342 BLM NM_000057.3(BLM): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1057516593 GRCh37 Chromosome 15, 91290624: 91290624
343 BLM NM_000057.3(BLM): c.98+1G> A single nucleotide variant Likely pathogenic rs750293380 GRCh37 Chromosome 15, 91290721: 91290721
344 BLM NM_000057.3(BLM): c.98+1G> A single nucleotide variant Likely pathogenic rs750293380 GRCh38 Chromosome 15, 90747491: 90747491
345 BLM NM_000057.3(BLM): c.98+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs750293380 GRCh38 Chromosome 15, 90747491: 90747491
346 BLM NM_000057.3(BLM): c.98+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs750293380 GRCh37 Chromosome 15, 91290721: 91290721
347 BLM NM_000057.3(BLM): c.298_299delCA (p.Gln100Glufs) deletion Pathogenic/Likely pathogenic rs745807085 GRCh38 Chromosome 15, 90749566: 90749567
348 BLM NM_000057.3(BLM): c.298_299delCA (p.Gln100Glufs) deletion Pathogenic/Likely pathogenic rs745807085 GRCh37 Chromosome 15, 91292796: 91292797
349 BLM NM_000057.3(BLM): c.443dupT (p.Leu148Phefs) duplication Likely pathogenic rs1057516297 GRCh38 Chromosome 15, 90749711: 90749711
350 BLM NM_000057.3(BLM): c.443dupT (p.Leu148Phefs) duplication Likely pathogenic rs1057516297 GRCh37 Chromosome 15, 91292941: 91292941
351 BLM NM_000057.3(BLM): c.662_665delCTGA (p.Thr221Argfs) deletion Likely pathogenic rs1057517229 GRCh37 Chromosome 15, 91293160: 91293163
352 BLM NM_000057.3(BLM): c.662_665delCTGA (p.Thr221Argfs) deletion Likely pathogenic rs1057517229 GRCh38 Chromosome 15, 90749930: 90749933
353 BLM NM_000057.3(BLM): c.1003_1006dupCTTA (p.Ser336Thrfs) duplication Likely pathogenic rs1057517359 GRCh37 Chromosome 15, 91298084: 91298087
354 BLM NM_000057.3(BLM): c.1003_1006dupCTTA (p.Ser336Thrfs) duplication Likely pathogenic rs1057517359 GRCh38 Chromosome 15, 90754854: 90754857
355 BLM NM_000057.3(BLM): c.1083_1084delTG (p.Cys361Terfs) deletion Likely pathogenic rs1057517030 GRCh37 Chromosome 15, 91298164: 91298165
356 BLM NM_000057.3(BLM): c.1083_1084delTG (p.Cys361Terfs) deletion Likely pathogenic rs1057517030 GRCh38 Chromosome 15, 90754934: 90754935
357 BLM NM_000057.3(BLM): c.1284G> A (p.Trp428Ter) single nucleotide variant Likely pathogenic rs1057516964 GRCh37 Chromosome 15, 91303887: 91303887
358 BLM NM_000057.3(BLM): c.1284G> A (p.Trp428Ter) single nucleotide variant Likely pathogenic rs1057516964 GRCh38 Chromosome 15, 90760657: 90760657
359 BLM NM_000057.3(BLM): c.1479_1480delTA (p.Thr494Profs) deletion Pathogenic/Likely pathogenic rs746244182 GRCh38 Chromosome 15, 90760852: 90760853
360 BLM NM_000057.3(BLM): c.1479_1480delTA (p.Thr494Profs) deletion Pathogenic/Likely pathogenic rs746244182 GRCh37 Chromosome 15, 91304082: 91304083
361 BLM NM_000057.3(BLM): c.1720_1735del16 (p.Ala575Profs) deletion Likely pathogenic rs1057516361 GRCh38 Chromosome 15, 90761093: 90761108
362 BLM NM_000057.3(BLM): c.1720_1735del16 (p.Ala575Profs) deletion Likely pathogenic rs1057516361 GRCh37 Chromosome 15, 91304323: 91304338
363 BLM NM_000057.3(BLM): c.1722_1725delAGCAinsGGC (p.Ala576Profs) indel Likely pathogenic rs1057517266 GRCh38 Chromosome 15, 90761095: 90761098
364 BLM NM_000057.3(BLM): c.1722_1725delAGCAinsGGC (p.Ala576Profs) indel Likely pathogenic rs1057517266 GRCh37 Chromosome 15, 91304325: 91304328
365 BLM NM_000057.3(BLM): c.1740delC (p.Thr581Glnfs) deletion Likely pathogenic rs1057517432 GRCh38 Chromosome 15, 90761113: 90761113
366 BLM NM_000057.3(BLM): c.1740delC (p.Thr581Glnfs) deletion Likely pathogenic rs1057517432 GRCh37 Chromosome 15, 91304343: 91304343
367 BLM NM_000057.3(BLM): c.1764_1777delGGAAGGTCGGCCAA (p.Lys588Asnfs) deletion Likely pathogenic rs1057516956 GRCh37 Chromosome 15, 91304367: 91304380
368 BLM NM_000057.3(BLM): c.1764_1777delGGAAGGTCGGCCAA (p.Lys588Asnfs) deletion Likely pathogenic rs1057516956 GRCh38 Chromosome 15, 90761137: 90761150
369 BLM NM_000057.3(BLM): c.1795delA (p.Arg599Aspfs) deletion Likely pathogenic rs1057517431 GRCh37 Chromosome 15, 91304398: 91304398
370 BLM NM_000057.3(BLM): c.1795delA (p.Arg599Aspfs) deletion Likely pathogenic rs1057517431 GRCh38 Chromosome 15, 90761168: 90761168
371 BLM NM_000057.3(BLM): c.2720_2726delCGTTACA (p.Thr907Argfs) deletion Likely pathogenic rs1057516452 GRCh38 Chromosome 15, 90784978: 90784984
372 BLM NM_000057.3(BLM): c.2720_2726delCGTTACA (p.Thr907Argfs) deletion Likely pathogenic rs1057516452 GRCh37 Chromosome 15, 91328208: 91328214
373 BLM NM_000057.3(BLM): c.2821C> T (p.Gln941Ter) single nucleotide variant Likely pathogenic rs1057516700 GRCh38 Chromosome 15, 90785079: 90785079
374 BLM NM_000057.3(BLM): c.2821C> T (p.Gln941Ter) single nucleotide variant Likely pathogenic rs1057516700 GRCh37 Chromosome 15, 91328309: 91328309
375 BLM NM_000057.3(BLM): c.2824-2A> T single nucleotide variant Likely pathogenic rs745538883 GRCh37 Chromosome 15, 91333877: 91333877
376 BLM NM_000057.3(BLM): c.2824-2A> T single nucleotide variant Likely pathogenic rs745538883 GRCh38 Chromosome 15, 90790647: 90790647
377 BLM NM_000057.3(BLM): c.3022delG (p.Glu1008Lysfs) deletion Likely pathogenic rs1057516719 GRCh37 Chromosome 15, 91337399: 91337399
378 BLM NM_000057.3(BLM): c.3022delG (p.Glu1008Lysfs) deletion Likely pathogenic rs1057516719 GRCh38 Chromosome 15, 90794169: 90794169
379 BLM NM_000057.3(BLM): c.3305_3306delAT (p.His1102Argfs) deletion Likely pathogenic rs1057516253 GRCh38 Chromosome 15, 90798284: 90798285
380 BLM NM_000057.3(BLM): c.3305_3306delAT (p.His1102Argfs) deletion Likely pathogenic rs1057516253 GRCh37 Chromosome 15, 91341514: 91341515
381 BLM NM_000057.3(BLM): c.3400G> T (p.Gly1134Ter) single nucleotide variant Likely pathogenic rs1057516774 GRCh37 Chromosome 15, 91346792: 91346792
382 BLM NM_000057.3(BLM): c.3400G> T (p.Gly1134Ter) single nucleotide variant Likely pathogenic rs1057516774 GRCh38 Chromosome 15, 90803562: 90803562
383 BLM NM_000057.3(BLM): c.3638delA (p.Glu1213Glyfs) deletion Likely pathogenic rs1057516547 GRCh38 Chromosome 15, 90804246: 90804246
384 BLM NM_000057.3(BLM): c.3638delA (p.Glu1213Glyfs) deletion Likely pathogenic rs1057516547 GRCh37 Chromosome 15, 91347476: 91347476
385 BLM NM_000057.3(BLM): c.3667dup (p.Thr1223Asnfs) duplication Likely pathogenic rs1057517154 GRCh38 Chromosome 15, 90804275: 90804275
386 BLM NM_000057.3(BLM): c.3667dup (p.Thr1223Asnfs) duplication Likely pathogenic rs1057517154 GRCh37 Chromosome 15, 91347505: 91347505
387 BLM NM_000057.3(BLM): c.3855C> A (p.Tyr1285Ter) single nucleotide variant Likely pathogenic rs1057516728 GRCh37 Chromosome 15, 91352470: 91352470
388 BLM NM_000057.3(BLM): c.3855C> A (p.Tyr1285Ter) single nucleotide variant Likely pathogenic rs1057516728 GRCh38 Chromosome 15, 90809240: 90809240
389 BLM NM_000057.3(BLM): c.3875-2A> G single nucleotide variant Likely pathogenic rs150421256 GRCh38 Chromosome 15, 90811203: 90811203
390 BLM NM_000057.3(BLM): c.3875-2A> G single nucleotide variant Likely pathogenic rs150421256 GRCh37 Chromosome 15, 91354433: 91354433
391 BLM NM_000057.3(BLM): c.4000_4004delAGGAA (p.Arg1334Glufs) deletion Likely pathogenic rs1057516261 GRCh37 Chromosome 15, 91354560: 91354564
392 BLM NM_000057.3(BLM): c.4000_4004delAGGAA (p.Arg1334Glufs) deletion Likely pathogenic rs1057516261 GRCh38 Chromosome 15, 90811330: 90811334
393 BLM NM_000057.3(BLM): c.1544delA (p.Asn515Metfs) deletion Pathogenic rs367543043 GRCh37 Chromosome 15, 91304147: 91304147
394 BLM NM_000057.3(BLM): c.1544delA (p.Asn515Metfs) deletion Pathogenic rs367543043 GRCh38 Chromosome 15, 90760917: 90760917
395 BLM NM_000057.3(BLM): c.4140T> G (p.Ser1380Arg) single nucleotide variant Uncertain significance rs747834576 GRCh38 Chromosome 15, 90815165: 90815165
396 BLM NM_000057.3(BLM): c.4140T> G (p.Ser1380Arg) single nucleotide variant Uncertain significance rs747834576 GRCh37 Chromosome 15, 91358395: 91358395
397 BLM NM_000057.3(BLM): c.671A> C (p.Gln224Pro) single nucleotide variant Uncertain significance rs770111029 GRCh38 Chromosome 15, 90749939: 90749939
398 BLM NM_000057.3(BLM): c.24T> G (p.Asn8Lys) single nucleotide variant Uncertain significance rs1060500635 GRCh37 Chromosome 15, 91290646: 91290646
399 BLM NM_000057.3(BLM): c.24T> G (p.Asn8Lys) single nucleotide variant Uncertain significance rs1060500635 GRCh38 Chromosome 15, 90747416: 90747416
400 BLM NM_000057.3(BLM): c.44G> A (p.Arg15His) single nucleotide variant Uncertain significance rs752755503 GRCh37 Chromosome 15, 91290666: 91290666
401 BLM NM_000057.3(BLM): c.44G> A (p.Arg15His) single nucleotide variant Uncertain significance rs752755503 GRCh38 Chromosome 15, 90747436: 90747436
402 BLM NM_000057.3(BLM): c.488C> T (p.Ser163Phe) single nucleotide variant Uncertain significance rs745819553 GRCh37 Chromosome 15, 91292986: 91292986
403 BLM NM_000057.3(BLM): c.488C> T (p.Ser163Phe) single nucleotide variant Uncertain significance rs745819553 GRCh38 Chromosome 15, 90749756: 90749756
404 BLM NM_000057.3(BLM): c.543C> T (p.Ser181=) single nucleotide variant Likely benign rs761288442 GRCh37 Chromosome 15, 91293041: 91293041
405 BLM NM_000057.3(BLM): c.543C> T (p.Ser181=) single nucleotide variant Likely benign rs761288442 GRCh38 Chromosome 15, 90749811: 90749811
406 BLM NM_000057.3(BLM): c.671A> C (p.Gln224Pro) single nucleotide variant Uncertain significance rs770111029 GRCh37 Chromosome 15, 91293169: 91293169
407 BLM NM_000057.3(BLM): c.807C> T (p.Ser269=) single nucleotide variant Conflicting interpretations of p