CDLS1
MCID: CRN139
MIFTS: 47

Cornelia De Lange Syndrome 1 (CDLS1)

Categories: Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Cornelia De Lange Syndrome 1

MalaCards integrated aliases for Cornelia De Lange Syndrome 1:

Name: Cornelia De Lange Syndrome 1 57 75 29 13 6
De Lange Syndrome 57 29
Cdls1 57 75
Typus Degenerativus Amstelodamensis 57
Amstelodamensis Typus Degenerativus 75
Cornelia De Lange Syndrome, Type 1 40
Brachmann-De Lange Syndrome; Bdls 57
Brachmann-De Lange Syndrome 57
Cdl; Cdls 57
Cdls 57
Bdls 57
Cdl 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
many cases due to de novo mutation or chromosome aberration
empiric risk for a sib of an affected child between 2 and 5%
prevalence of 0.6 to 10 per 100,000 individuals


HPO:

32
cornelia de lange syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Cornelia De Lange Syndrome 1

OMIM : 57 The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010). Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. (122470)

MalaCards based summary : Cornelia De Lange Syndrome 1, also known as de lange syndrome, is related to cornelia de lange syndrome and cornelia de lange syndrome 2. An important gene associated with Cornelia De Lange Syndrome 1 is NIPBL (NIPBL, Cohesin Loading Factor), and among its related pathways/superpathways is Mitotic Telophase/Cytokinesis. The drugs Propranolol and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and heart, and related phenotypes are low-set ears and short neck

UniProtKB/Swiss-Prot : 75 Cornelia de Lange syndrome 1: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

Related Diseases for Cornelia De Lange Syndrome 1

Diseases in the Cornelia De Lange Syndrome family:

Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 2
Cornelia De Lange Syndrome 5 Cornelia De Lange Syndrome 3
Cornelia De Lange Syndrome 4

Diseases related to Cornelia De Lange Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 6, show less)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 24.3 CDL1 CPLANE1 HDAC8 KMT2A NIPBL NIPBL-DT
2 cornelia de lange syndrome 2 10.9
3 cornelia de lange syndrome 5 10.9
4 roberts syndrome 9.2 NIPBL RAD21
5 kbg syndrome 8.9 HDAC8 NIPBL RAD21
6 trehalase deficiency 8.8 CPLANE1 HDAC8 KMT2A NIPBL

Graphical network of the top 20 diseases related to Cornelia De Lange Syndrome 1:



Diseases related to Cornelia De Lange Syndrome 1

Symptoms & Phenotypes for Cornelia De Lange Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
sensorineural hearing loss
conductive hearing loss to due otitis media

Head And Neck Eyes:
ptosis
myopia
synophrys
long curly eyelashes

Head And Neck Teeth:
widely spaced teeth
late-erupting teeth

Head And Neck Head:
microcephaly
brachycephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
pyloric stenosis

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skin Nails Hair Skin:
cutis marmorata
single transverse palmar crease

Skeletal Limbs:
phocomelia
limited elbow extension
dislocation of the radial head

Head And Neck Mouth:
cleft lip/palate
thin upper lip
high arched palate
downturned corners of the mouth

Neurologic Central Nervous System:
mental retardation
language delay
hypertonicity

Genitourinary External Genitalia Male:
hypoplastic male genitalia

Skeletal Feet:
syndactyly of toes 2 and 3

Head And Neck Neck:
short neck

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior

Head And Neck Nose:
depressed nasal bridge
anteverted nostrils

Growth Height:
short stature
prenatal growth retardation
specific growth curves are available

Head And Neck Face:
long philtrum
micrognathia

Respiratory Lung:
congenital diaphragmatic hernia
pneumonia

Skeletal Hands:
oligodactyly
single transverse palmar crease
fifth finger clinodactyly
proximally placed thumbs

Skin Nails Hair Hair:
hirsutism
low posterior hair line

Cardiovascular Heart:
congenital heart defect

Chest Breasts:
small nipples

Genitourinary Kidneys:
structural anomalies of the renal tract
absent/poor corticomedullary differentiation (some patients)
pelvic dilation (some patients)
vesicoureteral reflux (rare)
small kidney (rare)
more
Voice:
low-pitched, growling cry in infancy


Clinical features from OMIM:

122470

Human phenotypes related to Cornelia De Lange Syndrome 1:

32 (showing 81, show less)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 short neck 32 HP:0000470
3 high palate 32 HP:0000218
4 ptosis 32 HP:0000508
5 nystagmus 32 HP:0000639
6 intellectual disability 32 HP:0001249
7 seizures 32 HP:0001250
8 self-injurious behavior 32 HP:0100716
9 inguinal hernia 32 HP:0000023
10 widely spaced teeth 32 HP:0000687
11 behavioral abnormality 32 HP:0000708
12 delayed skeletal maturation 32 HP:0002750
13 depressed nasal bridge 32 HP:0005280
14 delayed speech and language development 32 HP:0000750
15 microcephaly 32 HP:0000252
16 sensorineural hearing impairment 32 HP:0000407
17 anteverted nares 32 HP:0000463
18 optic atrophy 32 HP:0000648
19 short stature 32 HP:0004322
20 hypertonia 32 HP:0001276
21 gastroesophageal reflux 32 HP:0002020
22 proteinuria 32 occasional (7.5%) HP:0000093
23 brachycephaly 32 HP:0000248
24 cleft palate 32 HP:0000175
25 long philtrum 32 HP:0000343
26 micrognathia 32 HP:0000347
27 ectopic kidney 32 HP:0000086
28 strabismus 32 HP:0000486
29 delayed eruption of teeth 32 HP:0000684
30 micromelia 32 HP:0002983
31 cryptorchidism 32 HP:0000028
32 short sternum 32 HP:0000879
33 intrauterine growth retardation 32 HP:0001511
34 low posterior hairline 32 HP:0002162
35 high, narrow palate 32 HP:0002705
36 myopia 32 HP:0000545
37 thrombocytopenia 32 HP:0001873
38 hypospadias 32 HP:0000047
39 clinodactyly of the 5th finger 32 HP:0004209
40 conductive hearing impairment 32 HP:0000405
41 downturned corners of mouth 32 HP:0002714
42 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
43 renal hypoplasia 32 occasional (7.5%) HP:0000089
44 choanal atresia 32 HP:0000453
45 ventricular septal defect 32 HP:0001629
46 thin upper lip vermilion 32 HP:0000219
47 highly arched eyebrow 32 HP:0002553
48 curly eyelashes 32 HP:0007665
49 pyloric stenosis 32 HP:0002021
50 proptosis 32 HP:0000520
51 long eyelashes 32 HP:0000527
52 cleft upper lip 32 HP:0000204
53 synophrys 32 HP:0000664
54 microcornea 32 HP:0000482
55 proximal placement of thumb 32 HP:0009623
56 optic nerve coloboma 32 HP:0000588
57 hiatus hernia 32 HP:0002036
58 supernumerary ribs 32 HP:0005815
59 weak cry 32 HP:0001612
60 congenital diaphragmatic hernia 32 HP:0000776
61 astigmatism 32 HP:0000483
62 hypoplastic labia majora 32 HP:0000059
63 cutis marmorata 32 HP:0000965
64 hypoplastic nipples 32 HP:0002557
65 pneumonia 32 HP:0002090
66 hypoplasia of the radius 32 HP:0002984
67 phocomelia 32 HP:0009829
68 single transverse palmar crease 32 HP:0000954
69 renal cyst 32 occasional (7.5%) HP:0000107
70 2-3 toe syndactyly 32 HP:0004691
71 limited elbow extension 32 HP:0001377
72 dislocated radial head 32 HP:0003083
73 hirsutism 32 HP:0001007
74 elbow flexion contracture 32 HP:0002987
75 hypoplastic male external genitalia 32 HP:0000050
76 duplication of internal organs 32 HP:0005217
77 hand oligodactyly 32 HP:0001180
78 malrotation of colon 32 HP:0004785
79 abnormality of the umbilicus 32 HP:0001551
80 hypoplastic radial head 32 HP:0003997
81 reduced renal corticomedullary differentiation 32 HP:0005565

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome 1:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 CPLANE1 HDAC8 KMT2A NIPBL

Drugs & Therapeutics for Cornelia De Lange Syndrome 1

Drugs for Cornelia De Lange Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 38, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2 Adrenergic Agents Phase 2, Phase 3,Not Applicable
3 Adrenergic Antagonists Phase 2, Phase 3,Not Applicable
4 Adrenergic beta-Antagonists Phase 2, Phase 3,Not Applicable
5 Neurotransmitter Agents Phase 2, Phase 3,Not Applicable
6 Anti-Arrhythmia Agents Phase 2, Phase 3,Not Applicable
7 Vasodilator Agents Phase 2, Phase 3,Not Applicable
8 Antihypertensive Agents Phase 2, Phase 3,Not Applicable
9
Ciprofloxacin Approved, Investigational 85721-33-1 2764
10
Verapamil Approved Not Applicable 52-53-9 2520
11
Amiodarone Approved, Investigational Not Applicable 1951-25-3 2157
12
Everolimus Approved Not Applicable 159351-69-6 6442177
13
Paclitaxel Approved, Vet_approved Not Applicable 33069-62-4 36314
14
Metoprolol Approved, Investigational Not Applicable 37350-58-6, 51384-51-1 4171
15
Digoxin Approved Not Applicable 20830-75-5 30322 2724385
16
Sirolimus Approved, Investigational Not Applicable 53123-88-9 5284616 6436030 46835353
17 calcium channel blockers Not Applicable
18 Adrenergic beta-1 Receptor Antagonists Not Applicable
19 Albumin-Bound Paclitaxel Not Applicable
20 Sodium Channel Blockers Not Applicable
21 Sympatholytics Not Applicable
22 Cystatins
23 Cytochrome P-450 CYP1A2 Inhibitors ,Not Applicable
24 Cytochrome P-450 CYP2C9 Inhibitors Not Applicable
25 Cytochrome P-450 CYP2D6 Inhibitors Not Applicable
26 Cytochrome P-450 CYP3A Inhibitors Not Applicable
27 Cytochrome P-450 Enzyme Inhibitors ,Not Applicable
28 Topoisomerase Inhibitors
29 Diuretics, Potassium Sparing Not Applicable
30 Peripheral Nervous System Agents Not Applicable
31 Anti-Bacterial Agents
32 Potassium Channel Blockers Not Applicable
33 Anti-Infective Agents
34 Protective Agents Not Applicable
35 Autonomic Agents Not Applicable
36 Calcium, Dietary Not Applicable
37 leucine Nutraceutical Not Applicable
38 Cola Nutraceutical Not Applicable

Interventional clinical trials:

(showing 16, show less)
# Name Status NCT ID Phase Drugs
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Unknown status NCT02724865 Phase 4
2 The Effects of Propranolol on Fear of Tooth or Molar Extraction Recruiting NCT02268357 Phase 2, Phase 3 Propranolol
3 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069 Not Applicable
4 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277 Not Applicable
5 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
6 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Recruiting NCT03113877
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Pilot Study of a National Screening Programme for Bowel Cancer in Norway Recruiting NCT01538550 Not Applicable
9 Post-Market Clinical-Follow-Up Study of Suprasorb® C Collagen Wound Dressing Recruiting NCT03444597
10 Pharmacokinetics of Ciprofloxacin in Critically Ill Patients Recruiting NCT03016845
11 Benefit of Dual-chamber Pacing With Closed Loop Stimulation (CLS) in Tilt-induced Cardioinhibitory Reflex Syncope Recruiting NCT02324920 Not Applicable
12 OrthoIllustrated Web Based Orthopaedic Sports Medicine Registry Recruiting NCT01191151
13 The PREVAIL Study Recruiting NCT03260517 Not Applicable
14 OPTIMIZE IDE for the Treatment of ACS Recruiting NCT03190473 Not Applicable
15 PRESSUREwire Study Recruiting NCT02935088
16 Acute Cardioversion Versus Wait And See-approach for Symptomatic Atrial Fibrillation in the Emergency Department Recruiting NCT02248753 Not Applicable Pharmacological cardioversion - Flecainide;Metoprolol;Verapamil;Digoxin;Pharmacological cardioversion - Amiodarone

Search NIH Clinical Center for Cornelia De Lange Syndrome 1

Genetic Tests for Cornelia De Lange Syndrome 1

Genetic tests related to Cornelia De Lange Syndrome 1:

# Genetic test Affiliating Genes
1 De Lange Syndrome 29 HDAC8 RAD21
2 Cornelia De Lange Syndrome 1 29 NIPBL

Anatomical Context for Cornelia De Lange Syndrome 1

MalaCards organs/tissues related to Cornelia De Lange Syndrome 1:

41
Kidney, Colon, Heart

Publications for Cornelia De Lange Syndrome 1

Articles related to Cornelia De Lange Syndrome 1:

(showing 1, show less)
# Title Authors Year
1
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. ( 19522788 )
2009

Variations for Cornelia De Lange Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cornelia De Lange Syndrome 1:

75 (showing 38, show less)
# Symbol AA change Variation ID SNP ID
1 NIPBL p.Cys1311Arg VAR_019519
2 NIPBL p.Leu1348Arg VAR_019520
3 NIPBL p.Tyr2430Cys VAR_019521 rs121918265
4 NIPBL p.Ala1246Gly VAR_021598 rs121918268
5 NIPBL p.Leu1312Pro VAR_021599
6 NIPBL p.Arg1789Leu VAR_021600
7 NIPBL p.Asp1803Val VAR_021601
8 NIPBL p.Arg1856Thr VAR_021602
9 NIPBL p.Arg2298Cys VAR_021603 rs80358376
10 NIPBL p.Arg2298His VAR_021604 rs587784024
11 NIPBL p.Gly2312Arg VAR_021605
12 NIPBL p.Gly2381Ala VAR_021606
13 NIPBL p.Ala2390Thr VAR_021607 rs587784036
14 NIPBL p.Tyr2440His VAR_021608
15 NIPBL p.Gly2081Ala VAR_064545 rs587784000
16 NIPBL p.Ser2090Ile VAR_064546
17 NIPBL p.Leu2150Pro VAR_064547
18 NIPBL p.Gly15Arg VAR_072996
19 NIPBL p.Pro29Gln VAR_072997
20 NIPBL p.Asn70Ile VAR_072998
21 NIPBL p.Ser111Thr VAR_073000
22 NIPBL p.Ala179Ser VAR_073001
23 NIPBL p.Ala179Thr VAR_073002 rs142923613
24 NIPBL p.Pro192Leu VAR_073003
25 NIPBL p.Asp246Gly VAR_073004 rs587784042
26 NIPBL p.Leu254Val VAR_073005
27 NIPBL p.Pro351Thr VAR_073006
28 NIPBL p.Lys357Asn VAR_073007
29 NIPBL p.Arg868Gln VAR_073008 rs149629686
30 NIPBL p.Glu1207Lys VAR_073009
31 NIPBL p.His1343Pro VAR_073010
32 NIPBL p.Val1441Leu VAR_073011 rs727503769
33 NIPBL p.Val1625Phe VAR_073012
34 NIPBL p.Ile1637Leu VAR_073013
35 NIPBL p.Asn1722His VAR_073014
36 NIPBL p.Cys2091Phe VAR_073015
37 NIPBL p.Gly2312Val VAR_073017 rs587784025
38 NIPBL p.Asp2433Asn VAR_073018

ClinVar genetic disease variations for Cornelia De Lange Syndrome 1:

6
(showing 624, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 NIPBL NM_015384.4(NIPBL): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121918264 GRCh37 Chromosome 5, 36953800: 36953800
2 NIPBL NM_015384.4(NIPBL): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121918264 GRCh38 Chromosome 5, 36953698: 36953698
3 NIPBL NM_015384.4(NIPBL): c.7289A> G (p.Tyr2430Cys) single nucleotide variant Pathogenic rs121918265 GRCh37 Chromosome 5, 37057313: 37057313
4 NIPBL NM_015384.4(NIPBL): c.7289A> G (p.Tyr2430Cys) single nucleotide variant Pathogenic rs121918265 GRCh38 Chromosome 5, 37057211: 37057211
5 NIPBL NIPBL, 1-BP DEL, 150G deletion Pathogenic
6 NIPBL NIPBL, 1-BP INS, 7306G insertion Pathogenic
7 NIPBL NIPBL, 1-BP INS, 1546G insertion Pathogenic
8 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh37 Chromosome 5, 37001132: 37001134
9 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh38 Chromosome 5, 37001030: 37001032
10 NIPBL NIPBL, 2-BP DEL, 2479AG deletion Pathogenic
11 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh37 Chromosome 5, 37020717: 37020717
12 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh38 Chromosome 5, 37020615: 37020615
13 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh37 Chromosome 5, 37002836: 37002836
14 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh38 Chromosome 5, 37002734: 37002734
15 NIPBL NIPBL, IVS45AS, G-C, -1 single nucleotide variant Pathogenic
16 NIPBL NIPBL, IVS44DS, A-G, +4 single nucleotide variant Pathogenic
17 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh37 Chromosome 5, 37014830: 37014830
18 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh38 Chromosome 5, 37014728: 37014728
19 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh37 Chromosome 5, 36877039: 36877040
20 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh38 Chromosome 5, 36876937: 36876938
21 NIPBL NM_133433.3(NIPBL): c.2479_2480delAG (p.Arg827Glyfs) deletion Pathogenic rs398124465 GRCh37 Chromosome 5, 36985761: 36985762
22 NIPBL NM_133433.3(NIPBL): c.2479_2480delAG (p.Arg827Glyfs) deletion Pathogenic rs398124465 GRCh38 Chromosome 5, 36985659: 36985660
23 NIPBL NM_133433.3(NIPBL): c.2602C> T (p.Arg868Ter) single nucleotide variant Pathogenic rs398124466 GRCh37 Chromosome 5, 36985884: 36985884
24 NIPBL NM_133433.3(NIPBL): c.2602C> T (p.Arg868Ter) single nucleotide variant Pathogenic rs398124466 GRCh38 Chromosome 5, 36985782: 36985782
25 NIPBL NM_015384.4(NIPBL): c.2626dupG (p.Asp876Glyfs) duplication Pathogenic rs398124467 GRCh37 Chromosome 5, 36985908: 36985908
26 NIPBL NM_015384.4(NIPBL): c.2626dupG (p.Asp876Glyfs) duplication Pathogenic rs398124467 GRCh38 Chromosome 5, 36985806: 36985806
27 NIPBL NM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter) single nucleotide variant Pathogenic rs80358362 GRCh37 Chromosome 5, 37022358: 37022358
28 NIPBL NM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter) single nucleotide variant Pathogenic rs80358362 GRCh38 Chromosome 5, 37022256: 37022256
29 NIPBL NM_015384.4(NIPBL): c.7047T> G (p.Tyr2349Ter) single nucleotide variant Pathogenic rs398124470 GRCh37 Chromosome 5, 37051973: 37051973
30 NIPBL NM_015384.4(NIPBL): c.7047T> G (p.Tyr2349Ter) single nucleotide variant Pathogenic rs398124470 GRCh38 Chromosome 5, 37051871: 37051871
31 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh37 Chromosome 5, 37052624: 37052624
32 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh38 Chromosome 5, 37052522: 37052522
33 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh37 Chromosome 5, 37064956: 37064956
34 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh38 Chromosome 5, 37064854: 37064854
35 NIPBL NM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) deletion Pathogenic rs80358386 GRCh37 Chromosome 5, 37008155: 37008164
36 NIPBL NM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) deletion Pathogenic rs80358386 GRCh38 Chromosome 5, 37008053: 37008062
37 NIPBL NM_133433.3(NIPBL): c.133C> T (p.Arg45Ter) single nucleotide variant Pathogenic rs80358367 GRCh37 Chromosome 5, 36955642: 36955642
38 NIPBL NM_133433.3(NIPBL): c.133C> T (p.Arg45Ter) single nucleotide variant Pathogenic rs80358367 GRCh38 Chromosome 5, 36955540: 36955540
39 NIPBL NM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs) deletion Pathogenic rs80358382 GRCh37 Chromosome 5, 36976454: 36976457
40 NIPBL NM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs) deletion Pathogenic rs80358382 GRCh38 Chromosome 5, 36976352: 36976355
41 NIPBL NM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs) deletion Pathogenic rs80358364 GRCh37 Chromosome 5, 36955701: 36955701
42 NIPBL NM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs) deletion Pathogenic rs80358364 GRCh38 Chromosome 5, 36955599: 36955599
43 NIPBL NM_133433.3(NIPBL): c.3445C> T (p.Arg1149Ter) single nucleotide variant Pathogenic rs80358374 GRCh37 Chromosome 5, 37000615: 37000615
44 NIPBL NM_133433.3(NIPBL): c.3445C> T (p.Arg1149Ter) single nucleotide variant Pathogenic rs80358374 GRCh38 Chromosome 5, 37000513: 37000513
45 NIPBL NM_133433.3(NIPBL): c.4511T> A (p.Leu1504Ter) single nucleotide variant Pathogenic rs80358369 GRCh37 Chromosome 5, 37010278: 37010278
46 NIPBL NM_133433.3(NIPBL): c.4511T> A (p.Leu1504Ter) single nucleotide variant Pathogenic rs80358369 GRCh38 Chromosome 5, 37010176: 37010176
47 NIPBL NM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs) deletion Pathogenic rs80358372 GRCh37 Chromosome 5, 37017150: 37017151
48 NIPBL NM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs) deletion Pathogenic rs80358372 GRCh38 Chromosome 5, 37017048: 37017049
49 NIPBL NM_133433.3(NIPBL): c.5456G> A (p.Arg1819Gln) single nucleotide variant Likely pathogenic rs80358366 GRCh37 Chromosome 5, 37022374: 37022374
50 NIPBL NM_133433.3(NIPBL): c.5456G> A (p.Arg1819Gln) single nucleotide variant Likely pathogenic rs80358366 GRCh38 Chromosome 5, 37022272: 37022272
51 NIPBL NM_133433.3(NIPBL): c.5566A> G (p.Arg1856Gly) single nucleotide variant Likely pathogenic rs80358373 GRCh37 Chromosome 5, 37022484: 37022484
52 NIPBL NM_133433.3(NIPBL): c.5566A> G (p.Arg1856Gly) single nucleotide variant Likely pathogenic rs80358373 GRCh38 Chromosome 5, 37022382: 37022382
53 NIPBL NM_133433.3(NIPBL): c.585C> G (p.Tyr195Ter) single nucleotide variant Pathogenic rs80358360 GRCh37 Chromosome 5, 36962351: 36962351
54 NIPBL NM_133433.3(NIPBL): c.585C> G (p.Tyr195Ter) single nucleotide variant Pathogenic rs80358360 GRCh38 Chromosome 5, 36962249: 36962249
55 NIPBL NM_133433.3(NIPBL): c.6631G> T (p.Glu2211Ter) single nucleotide variant Pathogenic rs80358363 GRCh37 Chromosome 5, 37048645: 37048645
56 NIPBL NM_133433.3(NIPBL): c.6631G> T (p.Glu2211Ter) single nucleotide variant Pathogenic rs80358363 GRCh38 Chromosome 5, 37048543: 37048543
57 NIPBL NM_015384.4(NIPBL): c.6641_6647delATCTATA (p.Asn2214Ilefs) deletion Pathogenic rs80358361 GRCh37 Chromosome 5, 37048655: 37048661
58 NIPBL NM_015384.4(NIPBL): c.6641_6647delATCTATA (p.Asn2214Ilefs) deletion Pathogenic rs80358361 GRCh38 Chromosome 5, 37048553: 37048559
59 NIPBL NM_133433.3(NIPBL): c.6892C> G (p.Arg2298Gly) single nucleotide variant Pathogenic rs80358376 GRCh37 Chromosome 5, 37049341: 37049341
60 NIPBL NM_133433.3(NIPBL): c.6892C> G (p.Arg2298Gly) single nucleotide variant Pathogenic rs80358376 GRCh38 Chromosome 5, 37049239: 37049239
61 NIPBL NM_133433.3(NIPBL): c.7301A> G (p.Asn2434Ser) single nucleotide variant Likely pathogenic rs80358384 GRCh37 Chromosome 5, 37057325: 37057325
62 NIPBL NM_133433.3(NIPBL): c.7301A> G (p.Asn2434Ser) single nucleotide variant Likely pathogenic rs80358384 GRCh38 Chromosome 5, 37057223: 37057223
63 NIPBL NM_133433.3(NIPBL): c.7327C> T (p.Gln2443Ter) single nucleotide variant Pathogenic rs80358370 GRCh37 Chromosome 5, 37057351: 37057351
64 NIPBL NM_133433.3(NIPBL): c.7327C> T (p.Gln2443Ter) single nucleotide variant Pathogenic rs80358370 GRCh38 Chromosome 5, 37057249: 37057249
65 NIPBL NM_133433.3(NIPBL): c.7789delC (p.Leu2597Cysfs) deletion Pathogenic rs80358368 GRCh37 Chromosome 5, 37061049: 37061049
66 NIPBL NM_133433.3(NIPBL): c.7789delC (p.Leu2597Cysfs) deletion Pathogenic rs80358368 GRCh38 Chromosome 5, 37060947: 37060947
67 NIPBL NM_133433.3(NIPBL): c.7806_7807insT (p.Asn2603Terfs) insertion Pathogenic rs80358371 GRCh37 Chromosome 5, 37061066: 37061066
68 NIPBL NM_133433.3(NIPBL): c.7806_7807insT (p.Asn2603Terfs) insertion Pathogenic rs80358371 GRCh38 Chromosome 5, 37060964: 37060964
69 NIPBL NM_133433.3(NIPBL): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs587783937 GRCh37 Chromosome 5, 36953801: 36953801
70 NIPBL NM_133433.3(NIPBL): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs587783937 GRCh38 Chromosome 5, 36953699: 36953699
71 NIPBL NM_133433.3(NIPBL): c.64+1G> A single nucleotide variant Pathogenic rs587784009 GRCh37 Chromosome 5, 36953863: 36953863
72 NIPBL NM_133433.3(NIPBL): c.64+1G> A single nucleotide variant Pathogenic rs587784009 GRCh38 Chromosome 5, 36953761: 36953761
73 NIPBL NM_133433.3(NIPBL): c.64+3A> C single nucleotide variant Pathogenic rs587784010 GRCh37 Chromosome 5, 36953865: 36953865
74 NIPBL NM_133433.3(NIPBL): c.64+3A> C single nucleotide variant Pathogenic rs587784010 GRCh38 Chromosome 5, 36953763: 36953763
75 NIPBL NM_133433.3(NIPBL): c.64+5G> A single nucleotide variant Likely pathogenic rs587784011 GRCh37 Chromosome 5, 36953867: 36953867
76 NIPBL NM_133433.3(NIPBL): c.64+5G> A single nucleotide variant Likely pathogenic rs587784011 GRCh38 Chromosome 5, 36953765: 36953765
77 NIPBL NM_133433.3(NIPBL): c.65-5A> G single nucleotide variant Likely pathogenic rs587784012 GRCh37 Chromosome 5, 36955569: 36955569
78 NIPBL NM_133433.3(NIPBL): c.65-5A> G single nucleotide variant Likely pathogenic rs587784012 GRCh38 Chromosome 5, 36955467: 36955467
79 NIPBL NM_133433.3(NIPBL): c.86delC (p.Pro29Hisfs) deletion Pathogenic rs587784060 GRCh37 Chromosome 5, 36955595: 36955595
80 NIPBL NM_133433.3(NIPBL): c.86delC (p.Pro29Hisfs) deletion Pathogenic rs587784060 GRCh38 Chromosome 5, 36955493: 36955493
81 NIPBL NM_133433.3(NIPBL): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs587783886 GRCh37 Chromosome 5, 36955654: 36955654
82 NIPBL NM_133433.3(NIPBL): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs587783886 GRCh38 Chromosome 5, 36955552: 36955552
83 NIPBL NM_015384.4(NIPBL): c.201_212delTAGCCTCAACCA (p.His67_Asn70del) deletion Likely pathogenic rs587783893 GRCh37 Chromosome 5, 36955710: 36955721
84 NIPBL NM_015384.4(NIPBL): c.201_212delTAGCCTCAACCA (p.His67_Asn70del) deletion Likely pathogenic rs587783893 GRCh38 Chromosome 5, 36955608: 36955619
85 NIPBL NM_133433.3(NIPBL): c.206T> C (p.Leu69Pro) single nucleotide variant Likely pathogenic rs587783895 GRCh37 Chromosome 5, 36955715: 36955715
86 NIPBL NM_133433.3(NIPBL): c.206T> C (p.Leu69Pro) single nucleotide variant Likely pathogenic rs587783895 GRCh38 Chromosome 5, 36955613: 36955613
87 NIPBL NM_015384.4(NIPBL): c.310_317delCCTAATGT (p.Pro104Phefs) deletion Pathogenic rs587783917 GRCh37 Chromosome 5, 36958285: 36958292
88 NIPBL NM_015384.4(NIPBL): c.310_317delCCTAATGT (p.Pro104Phefs) deletion Pathogenic rs587783917 GRCh38 Chromosome 5, 36958183: 36958190
89 NIPBL NM_133433.3(NIPBL): c.332G> A (p.Ser111Asn) single nucleotide variant Uncertain significance rs587783920 GRCh37 Chromosome 5, 36958307: 36958307
90 NIPBL NM_133433.3(NIPBL): c.332G> A (p.Ser111Asn) single nucleotide variant Uncertain significance rs587783920 GRCh38 Chromosome 5, 36958205: 36958205
91 NIPBL NM_133433.3(NIPBL): c.345A> G (p.Arg115=) single nucleotide variant Likely pathogenic rs587783922 GRCh37 Chromosome 5, 36958320: 36958320
92 NIPBL NM_133433.3(NIPBL): c.345A> G (p.Arg115=) single nucleotide variant Likely pathogenic rs587783922 GRCh38 Chromosome 5, 36958218: 36958218
93 NIPBL NM_133433.3(NIPBL): c.358+1G> T single nucleotide variant Pathogenic rs587783927 GRCh37 Chromosome 5, 36958334: 36958334
94 NIPBL NM_133433.3(NIPBL): c.358+1G> T single nucleotide variant Pathogenic rs587783927 GRCh38 Chromosome 5, 36958232: 36958232
95 NIPBL NM_133433.3(NIPBL): c.358+5G> C single nucleotide variant Likely pathogenic rs587783928 GRCh37 Chromosome 5, 36958338: 36958338
96 NIPBL NM_133433.3(NIPBL): c.358+5G> C single nucleotide variant Likely pathogenic rs587783928 GRCh38 Chromosome 5, 36958236: 36958236
97 NIPBL NM_015384.4(NIPBL): c.456delC (p.Ser153Alafs) deletion Pathogenic rs587783951 GRCh37 Chromosome 5, 36961683: 36961683
98 NIPBL NM_015384.4(NIPBL): c.456delC (p.Ser153Alafs) deletion Pathogenic rs587783951 GRCh38 Chromosome 5, 36961581: 36961581
99 NIPBL NM_133433.3(NIPBL): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783988 GRCh37 Chromosome 5, 36962364: 36962364
100 NIPBL NM_133433.3(NIPBL): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783988 GRCh38 Chromosome 5, 36962262: 36962262
101 NIPBL NM_133433.3(NIPBL): c.610+1G> A single nucleotide variant Pathogenic rs587783993 GRCh37 Chromosome 5, 36962377: 36962377
102 NIPBL NM_133433.3(NIPBL): c.610+1G> A single nucleotide variant Pathogenic rs587783993 GRCh38 Chromosome 5, 36962275: 36962275
103 NIPBL NM_133433.3(NIPBL): c.611-10T> C single nucleotide variant Uncertain significance rs368836554 GRCh37 Chromosome 5, 36970968: 36970968
104 NIPBL NM_133433.3(NIPBL): c.611-10T> C single nucleotide variant Uncertain significance rs368836554 GRCh38 Chromosome 5, 36970866: 36970866
105 NIPBL NM_133433.3(NIPBL): c.678G> A (p.Pro226=) single nucleotide variant Uncertain significance rs192822119 GRCh37 Chromosome 5, 36971045: 36971045
106 NIPBL NM_133433.3(NIPBL): c.678G> A (p.Pro226=) single nucleotide variant Uncertain significance rs192822119 GRCh38 Chromosome 5, 36970943: 36970943
107 NIPBL NM_133433.3(NIPBL): c.737A> G (p.Asp246Gly) single nucleotide variant Pathogenic rs587784042 GRCh37 Chromosome 5, 36971104: 36971104
108 NIPBL NM_133433.3(NIPBL): c.737A> G (p.Asp246Gly) single nucleotide variant Pathogenic rs587784042 GRCh38 Chromosome 5, 36971002: 36971002
109 NIPBL NM_133433.3(NIPBL): c.771+1G> A single nucleotide variant Pathogenic rs587784048 GRCh37 Chromosome 5, 36971139: 36971139
110 NIPBL NM_133433.3(NIPBL): c.771+1G> A single nucleotide variant Pathogenic rs587784048 GRCh38 Chromosome 5, 36971037: 36971037
111 NIPBL NM_133433.3(NIPBL): c.772-1G> A single nucleotide variant Pathogenic rs587784049 GRCh37 Chromosome 5, 36972046: 36972046
112 NIPBL NM_133433.3(NIPBL): c.772-1G> A single nucleotide variant Pathogenic rs587784049 GRCh38 Chromosome 5, 36971944: 36971944
113 NIPBL NM_133433.3(NIPBL): c.869-1G> A single nucleotide variant Pathogenic rs587784059 GRCh37 Chromosome 5, 36975877: 36975877
114 NIPBL NM_133433.3(NIPBL): c.869-1G> A single nucleotide variant Pathogenic rs587784059 GRCh38 Chromosome 5, 36975775: 36975775
115 NIPBL NM_133433.3(NIPBL): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs587784062 GRCh37 Chromosome 5, 36975901: 36975901
116 NIPBL NM_133433.3(NIPBL): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs587784062 GRCh38 Chromosome 5, 36975799: 36975799
117 NIPBL NM_015384.4(NIPBL): c.892delC (p.Gln298Asnfs) deletion Pathogenic rs587784063 GRCh37 Chromosome 5, 36975901: 36975901
118 NIPBL NM_015384.4(NIPBL): c.892delC (p.Gln298Asnfs) deletion Pathogenic rs587784063 GRCh38 Chromosome 5, 36975799: 36975799
119 NIPBL NM_133433.3(NIPBL): c.894A> G (p.Gln298=) single nucleotide variant Uncertain significance rs587784064 GRCh37 Chromosome 5, 36975903: 36975903
120 NIPBL NM_133433.3(NIPBL): c.894A> G (p.Gln298=) single nucleotide variant Uncertain significance rs587784064 GRCh38 Chromosome 5, 36975801: 36975801
121 NIPBL NM_133433.3(NIPBL): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs587784065 GRCh37 Chromosome 5, 36975931: 36975931
122 NIPBL NM_133433.3(NIPBL): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs587784065 GRCh38 Chromosome 5, 36975829: 36975829
123 NIPBL NM_015384.4(NIPBL): c.1003delG (p.Glu335Lysfs) deletion Pathogenic rs587783877 GRCh37 Chromosome 5, 36976012: 36976012
124 NIPBL NM_015384.4(NIPBL): c.1003delG (p.Glu335Lysfs) deletion Pathogenic rs587783877 GRCh38 Chromosome 5, 36975910: 36975910
125 NIPBL NM_015384.4(NIPBL): c.1033_1036delTATG (p.Tyr345Ilefs) deletion Pathogenic rs587783878 GRCh37 Chromosome 5, 36976042: 36976045
126 NIPBL NM_015384.4(NIPBL): c.1033_1036delTATG (p.Tyr345Ilefs) deletion Pathogenic rs587783878 GRCh38 Chromosome 5, 36975940: 36975943
127 NIPBL NM_133433.3(NIPBL): c.1057A> T (p.Lys353Ter) single nucleotide variant Pathogenic rs587783879 GRCh37 Chromosome 5, 36976066: 36976066
128 NIPBL NM_133433.3(NIPBL): c.1057A> T (p.Lys353Ter) single nucleotide variant Pathogenic rs587783879 GRCh38 Chromosome 5, 36975964: 36975964
129 NIPBL NM_015384.4(NIPBL): c.1086_1087delTT (p.Arg364Cysfs) deletion Pathogenic rs587783880 GRCh37 Chromosome 5, 36976095: 36976096
130 NIPBL NM_015384.4(NIPBL): c.1086_1087delTT (p.Arg364Cysfs) deletion Pathogenic rs587783880 GRCh38 Chromosome 5, 36975993: 36975994
131 NIPBL NM_133433.3(NIPBL): c.1183C> T (p.Gln395Ter) single nucleotide variant Pathogenic rs587783882 GRCh37 Chromosome 5, 36976192: 36976192
132 NIPBL NM_133433.3(NIPBL): c.1183C> T (p.Gln395Ter) single nucleotide variant Pathogenic rs587783882 GRCh38 Chromosome 5, 36976090: 36976090
133 NIPBL NM_133433.3(NIPBL): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs587783883 GRCh37 Chromosome 5, 36976306: 36976306
134 NIPBL NM_133433.3(NIPBL): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs587783883 GRCh38 Chromosome 5, 36976204: 36976204
135 NIPBL NM_133433.3(NIPBL): c.1372C> T (p.Gln458Ter) single nucleotide variant Pathogenic rs587783884 GRCh37 Chromosome 5, 36976381: 36976381
136 NIPBL NM_133433.3(NIPBL): c.1372C> T (p.Gln458Ter) single nucleotide variant Pathogenic rs587783884 GRCh38 Chromosome 5, 36976279: 36976279
137 NIPBL NM_015384.4(NIPBL): c.1447_1448delGA (p.Glu483Ilefs) deletion Pathogenic rs587783885 GRCh37 Chromosome 5, 36976456: 36976457
138 NIPBL NM_015384.4(NIPBL): c.1447_1448delGA (p.Glu483Ilefs) deletion Pathogenic rs587783885 GRCh38 Chromosome 5, 36976354: 36976355
139 NIPBL NM_133433.3(NIPBL): c.1477A> G (p.Lys493Glu) single nucleotide variant Likely pathogenic rs587783887 GRCh37 Chromosome 5, 36976486: 36976486
140 NIPBL NM_133433.3(NIPBL): c.1477A> G (p.Lys493Glu) single nucleotide variant Likely pathogenic rs587783887 GRCh38 Chromosome 5, 36976384: 36976384
141 NIPBL NM_015384.4(NIPBL): c.1514_1517delGAAA (p.Arg505Asnfs) deletion Pathogenic rs587783888 GRCh37 Chromosome 5, 36984796: 36984799
142 NIPBL NM_015384.4(NIPBL): c.1514_1517delGAAA (p.Arg505Asnfs) deletion Pathogenic rs587783888 GRCh38 Chromosome 5, 36984694: 36984697
143 NIPBL NM_133433.3(NIPBL): c.1576C> T (p.Gln526Ter) single nucleotide variant Pathogenic rs587783889 GRCh37 Chromosome 5, 36984858: 36984858
144 NIPBL NM_133433.3(NIPBL): c.1576C> T (p.Gln526Ter) single nucleotide variant Pathogenic rs587783889 GRCh38 Chromosome 5, 36984756: 36984756
145 NIPBL NM_133433.3(NIPBL): c.1591A> G (p.Thr531Ala) single nucleotide variant Uncertain significance rs587783890 GRCh37 Chromosome 5, 36984873: 36984873
146 NIPBL NM_133433.3(NIPBL): c.1591A> G (p.Thr531Ala) single nucleotide variant Uncertain significance rs587783890 GRCh38 Chromosome 5, 36984771: 36984771
147 NIPBL NM_015384.4(NIPBL): c.1753delA (p.Ile585Leufs) deletion Pathogenic rs587783891 GRCh37 Chromosome 5, 36985035: 36985035
148 NIPBL NM_015384.4(NIPBL): c.1753delA (p.Ile585Leufs) deletion Pathogenic rs587783891 GRCh38 Chromosome 5, 36984933: 36984933
149 NIPBL NM_133433.3(NIPBL): c.1885C> T (p.Arg629Ter) single nucleotide variant Pathogenic rs587783892 GRCh37 Chromosome 5, 36985167: 36985167
150 NIPBL NM_133433.3(NIPBL): c.1885C> T (p.Arg629Ter) single nucleotide variant Pathogenic rs587783892 GRCh38 Chromosome 5, 36985065: 36985065
151 NIPBL NM_015384.4(NIPBL): c.2046delA (p.Lys682Asnfs) deletion Pathogenic rs587783894 GRCh37 Chromosome 5, 36985328: 36985328
152 NIPBL NM_015384.4(NIPBL): c.2046delA (p.Lys682Asnfs) deletion Pathogenic rs587783894 GRCh38 Chromosome 5, 36985226: 36985226
153 NIPBL NM_133433.3(NIPBL): c.2065A> T (p.Asn689Tyr) single nucleotide variant Uncertain significance rs201482152 GRCh37 Chromosome 5, 36985347: 36985347
154 NIPBL NM_133433.3(NIPBL): c.2065A> T (p.Asn689Tyr) single nucleotide variant Uncertain significance rs201482152 GRCh38 Chromosome 5, 36985245: 36985245
155 NIPBL NM_133433.3(NIPBL): c.2093C> G (p.Ser698Ter) single nucleotide variant Pathogenic rs587783896 GRCh37 Chromosome 5, 36985375: 36985375
156 NIPBL NM_133433.3(NIPBL): c.2093C> G (p.Ser698Ter) single nucleotide variant Pathogenic rs587783896 GRCh38 Chromosome 5, 36985273: 36985273
157 NIPBL NM_015384.4(NIPBL): c.2107_2108delCC (p.Pro703Lysfs) deletion Pathogenic rs587783897 GRCh37 Chromosome 5, 36985389: 36985390
158 NIPBL NM_015384.4(NIPBL): c.2107_2108delCC (p.Pro703Lysfs) deletion Pathogenic rs587783897 GRCh38 Chromosome 5, 36985287: 36985288
159 NIPBL NM_015384.4(NIPBL): c.2108delC (p.Pro703Glnfs) deletion Pathogenic rs587783898 GRCh37 Chromosome 5, 36985390: 36985390
160 NIPBL NM_015384.4(NIPBL): c.2108delC (p.Pro703Glnfs) deletion Pathogenic rs587783898 GRCh38 Chromosome 5, 36985288: 36985288
161 NIPBL NM_133433.3(NIPBL): c.2256A> G (p.Glu752=) single nucleotide variant Uncertain significance rs148075057 GRCh37 Chromosome 5, 36985538: 36985538
162 NIPBL NM_133433.3(NIPBL): c.2256A> G (p.Glu752=) single nucleotide variant Uncertain significance rs148075057 GRCh38 Chromosome 5, 36985436: 36985436
163 NIPBL NM_133433.3(NIPBL): c.2260C> T (p.Arg754Ter) single nucleotide variant Pathogenic rs587783899 GRCh37 Chromosome 5, 36985542: 36985542
164 NIPBL NM_133433.3(NIPBL): c.2260C> T (p.Arg754Ter) single nucleotide variant Pathogenic rs587783899 GRCh38 Chromosome 5, 36985440: 36985440
165 NIPBL NM_133433.3(NIPBL): c.2294G> A (p.Arg765Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185678374 GRCh37 Chromosome 5, 36985576: 36985576
166 NIPBL NM_133433.3(NIPBL): c.2294G> A (p.Arg765Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185678374 GRCh38 Chromosome 5, 36985474: 36985474
167 NIPBL NM_133433.3(NIPBL): c.2389C> T (p.Arg797Ter) single nucleotide variant Pathogenic rs587783901 GRCh37 Chromosome 5, 36985671: 36985671
168 NIPBL NM_133433.3(NIPBL): c.2389C> T (p.Arg797Ter) single nucleotide variant Pathogenic rs587783901 GRCh38 Chromosome 5, 36985569: 36985569
169 NIPBL NM_133433.3(NIPBL): c.2422C> T (p.Arg808Ter) single nucleotide variant Pathogenic rs587783902 GRCh37 Chromosome 5, 36985704: 36985704
170 NIPBL NM_133433.3(NIPBL): c.2422C> T (p.Arg808Ter) single nucleotide variant Pathogenic rs587783902 GRCh38 Chromosome 5, 36985602: 36985602
171 NIPBL NM_133433.3(NIPBL): c.2471C> T (p.Ser824Leu) single nucleotide variant Uncertain significance rs587783904 GRCh37 Chromosome 5, 36985753: 36985753
172 NIPBL NM_133433.3(NIPBL): c.2471C> T (p.Ser824Leu) single nucleotide variant Uncertain significance rs587783904 GRCh38 Chromosome 5, 36985651: 36985651
173 NIPBL NM_133433.3(NIPBL): c.2489C> G (p.Ser830Ter) single nucleotide variant Pathogenic rs587783905 GRCh37 Chromosome 5, 36985771: 36985771
174 NIPBL NM_133433.3(NIPBL): c.2489C> G (p.Ser830Ter) single nucleotide variant Pathogenic rs587783905 GRCh38 Chromosome 5, 36985669: 36985669
175 NIPBL NM_133433.3(NIPBL): c.2494C> T (p.Arg832Ter) single nucleotide variant Pathogenic rs587783906 GRCh37 Chromosome 5, 36985776: 36985776
176 NIPBL NM_133433.3(NIPBL): c.2494C> T (p.Arg832Ter) single nucleotide variant Pathogenic rs587783906 GRCh38 Chromosome 5, 36985674: 36985674
177 NIPBL NM_133433.3(NIPBL): c.2500C> T (p.Arg834Ter) single nucleotide variant Pathogenic rs587783907 GRCh37 Chromosome 5, 36985782: 36985782
178 NIPBL NM_133433.3(NIPBL): c.2500C> T (p.Arg834Ter) single nucleotide variant Pathogenic rs587783907 GRCh38 Chromosome 5, 36985680: 36985680
179 NIPBL NM_133433.3(NIPBL): c.2505G> T (p.Gly835=) single nucleotide variant Uncertain significance rs587783908 GRCh37 Chromosome 5, 36985787: 36985787
180 NIPBL NM_133433.3(NIPBL): c.2505G> T (p.Gly835=) single nucleotide variant Uncertain significance rs587783908 GRCh38 Chromosome 5, 36985685: 36985685
181 NIPBL NM_015384.4(NIPBL): c.2711delG (p.Arg904Asnfs) deletion Pathogenic rs587783909 GRCh37 Chromosome 5, 36985993: 36985993
182 NIPBL NM_015384.4(NIPBL): c.2711delG (p.Arg904Asnfs) deletion Pathogenic rs587783909 GRCh38 Chromosome 5, 36985891: 36985891
183 NIPBL NM_015384.4(NIPBL): c.2773_2774delAA (p.Lys925Glufs) deletion Pathogenic rs587783910 GRCh37 Chromosome 5, 36986055: 36986056
184 NIPBL NM_015384.4(NIPBL): c.2773_2774delAA (p.Lys925Glufs) deletion Pathogenic rs587783910 GRCh38 Chromosome 5, 36985953: 36985954
185 NIPBL NM_133433.3(NIPBL): c.2832T> A (p.Tyr944Ter) single nucleotide variant Pathogenic rs587783911 GRCh37 Chromosome 5, 36986114: 36986114
186 NIPBL NM_133433.3(NIPBL): c.2832T> A (p.Tyr944Ter) single nucleotide variant Pathogenic rs587783911 GRCh38 Chromosome 5, 36986012: 36986012
187 NIPBL NM_133433.3(NIPBL): c.2903A> G (p.Asn968Ser) single nucleotide variant Uncertain significance rs180747605 GRCh37 Chromosome 5, 36986185: 36986185
188 NIPBL NM_133433.3(NIPBL): c.2903A> G (p.Asn968Ser) single nucleotide variant Uncertain significance rs180747605 GRCh38 Chromosome 5, 36986083: 36986083
189 NIPBL NM_015384.4(NIPBL): c.2903delA (p.Asn968Metfs) deletion Pathogenic rs587783912 GRCh37 Chromosome 5, 36986185: 36986185
190 NIPBL NM_015384.4(NIPBL): c.2903delA (p.Asn968Metfs) deletion Pathogenic rs587783912 GRCh38 Chromosome 5, 36986083: 36986083
191 NIPBL NM_133433.3(NIPBL): c.3060_3063delAGAG (p.Glu1021Thrfs) deletion Pathogenic rs587783914 GRCh37 Chromosome 5, 36986342: 36986345
192 NIPBL NM_133433.3(NIPBL): c.3060_3063delAGAG (p.Glu1021Thrfs) deletion Pathogenic rs587783914 GRCh38 Chromosome 5, 36986240: 36986243
193 NIPBL NM_133433.3(NIPBL): c.3103C> G (p.Pro1035Ala) single nucleotide variant Uncertain significance rs587783915 GRCh37 Chromosome 5, 36986385: 36986385
194 NIPBL NM_133433.3(NIPBL): c.3103C> G (p.Pro1035Ala) single nucleotide variant Uncertain significance rs587783915 GRCh38 Chromosome 5, 36986283: 36986283
195 NIPBL NM_133433.3(NIPBL): c.3109A> G (p.Lys1037Glu) single nucleotide variant Uncertain significance rs587783916 GRCh37 Chromosome 5, 36986391: 36986391
196 NIPBL NM_133433.3(NIPBL): c.3109A> G (p.Lys1037Glu) single nucleotide variant Uncertain significance rs587783916 GRCh38 Chromosome 5, 36986289: 36986289
197 NIPBL NM_133433.3(NIPBL): c.3122-2A> G single nucleotide variant Likely pathogenic rs587783918 GRCh37 Chromosome 5, 36995722: 36995722
198 NIPBL NM_133433.3(NIPBL): c.3122-2A> G single nucleotide variant Likely pathogenic rs587783918 GRCh38 Chromosome 5, 36995620: 36995620
199 NIPBL NM_133433.3(NIPBL): c.3304+5G> A single nucleotide variant Likely pathogenic rs80358356 GRCh37 Chromosome 5, 36995911: 36995911
200 NIPBL NM_133433.3(NIPBL): c.3304+5G> A single nucleotide variant Likely pathogenic rs80358356 GRCh38 Chromosome 5, 36995809: 36995809
201 NIPBL NM_133433.3(NIPBL): c.3305-1G> T single nucleotide variant Pathogenic rs80358375 GRCh37 Chromosome 5, 37000474: 37000474
202 NIPBL NM_133433.3(NIPBL): c.3305-1G> T single nucleotide variant Pathogenic rs80358375 GRCh38 Chromosome 5, 37000372: 37000372
203 NIPBL NM_133433.3(NIPBL): c.3322A> T (p.Lys1108Ter) single nucleotide variant Pathogenic rs587783919 GRCh37 Chromosome 5, 37000492: 37000492
204 NIPBL NM_133433.3(NIPBL): c.3322A> T (p.Lys1108Ter) single nucleotide variant Pathogenic rs587783919 GRCh38 Chromosome 5, 37000390: 37000390
205 NIPBL NM_133433.3(NIPBL): c.3369A> C (p.Arg1123Ser) single nucleotide variant Uncertain significance rs140344071 GRCh37 Chromosome 5, 37000539: 37000539
206 NIPBL NM_133433.3(NIPBL): c.3369A> C (p.Arg1123Ser) single nucleotide variant Uncertain significance rs140344071 GRCh38 Chromosome 5, 37000437: 37000437
207 NIPBL NM_133433.3(NIPBL): c.3423A> G (p.Ser1141=) single nucleotide variant Conflicting interpretations of pathogenicity rs571024836 GRCh37 Chromosome 5, 37000593: 37000593
208 NIPBL NM_133433.3(NIPBL): c.3423A> G (p.Ser1141=) single nucleotide variant Conflicting interpretations of pathogenicity rs571024836 GRCh38 Chromosome 5, 37000491: 37000491
209 NIPBL NM_133433.3(NIPBL): c.3440G> A (p.Arg1147Gln) single nucleotide variant Likely pathogenic rs587783921 GRCh37 Chromosome 5, 37000610: 37000610
210 NIPBL NM_133433.3(NIPBL): c.3440G> A (p.Arg1147Gln) single nucleotide variant Likely pathogenic rs587783921 GRCh38 Chromosome 5, 37000508: 37000508
211 NIPBL NM_015384.4(NIPBL): c.3461_3462delCT (p.Ser1154Terfs) deletion Pathogenic rs587783923 GRCh37 Chromosome 5, 37000631: 37000632
212 NIPBL NM_015384.4(NIPBL): c.3461_3462delCT (p.Ser1154Terfs) deletion Pathogenic rs587783923 GRCh38 Chromosome 5, 37000529: 37000530
213 NIPBL NM_133433.3(NIPBL): c.3503-9T> G single nucleotide variant Uncertain significance rs587783924 GRCh37 Chromosome 5, 37000910: 37000910
214 NIPBL NM_133433.3(NIPBL): c.3503-9T> G single nucleotide variant Uncertain significance rs587783924 GRCh38 Chromosome 5, 37000808: 37000808
215 NIPBL NM_015384.4(NIPBL): c.3526_3530delGAAAA (p.Glu1176Thrfs) deletion Pathogenic rs587783925 GRCh37 Chromosome 5, 37000942: 37000946
216 NIPBL NM_015384.4(NIPBL): c.3526_3530delGAAAA (p.Glu1176Thrfs) deletion Pathogenic rs587783925 GRCh38 Chromosome 5, 37000840: 37000844
217 NIPBL NM_133433.3(NIPBL): c.3575-3C> G single nucleotide variant Pathogenic rs587783926 GRCh37 Chromosome 5, 37001088: 37001088
218 NIPBL NM_133433.3(NIPBL): c.3575-3C> G single nucleotide variant Pathogenic rs587783926 GRCh38 Chromosome 5, 37000986: 37000986
219 NIPBL NM_015384.4(NIPBL): c.3788_3789delTG (p.Val1263Glufs) deletion Pathogenic rs587783930 GRCh37 Chromosome 5, 37003382: 37003383
220 NIPBL NM_015384.4(NIPBL): c.3788_3789delTG (p.Val1263Glufs) deletion Pathogenic rs587783930 GRCh38 Chromosome 5, 37003280: 37003281
221 NIPBL NM_015384.4(NIPBL): c.3804_3818delCTTGGAGAAGAATAT (p.Leu1269_Ile1273del) deletion Likely pathogenic rs587783931 GRCh37 Chromosome 5, 37003398: 37003412
222 NIPBL NM_015384.4(NIPBL): c.3804_3818delCTTGGAGAAGAATAT (p.Leu1269_Ile1273del) deletion Likely pathogenic rs587783931 GRCh38 Chromosome 5, 37003296: 37003310
223 NIPBL NM_133433.3(NIPBL): c.3818T> G (p.Ile1273Ser) single nucleotide variant Likely pathogenic rs587783932 GRCh37 Chromosome 5, 37003412: 37003412
224 NIPBL NM_133433.3(NIPBL): c.3818T> G (p.Ile1273Ser) single nucleotide variant Likely pathogenic rs587783932 GRCh38 Chromosome 5, 37003310: 37003310
225 NIPBL NM_133433.3(NIPBL): c.3851A> G (p.Asn1284Ser) single nucleotide variant Uncertain significance rs143152112 GRCh37 Chromosome 5, 37003445: 37003445
226 NIPBL NM_133433.3(NIPBL): c.3851A> G (p.Asn1284Ser) single nucleotide variant Uncertain significance rs143152112 GRCh38 Chromosome 5, 37003343: 37003343
227 NIPBL NM_133433.3(NIPBL): c.3855+1G> T single nucleotide variant Pathogenic rs587783933 GRCh37 Chromosome 5, 37003450: 37003450
228 NIPBL NM_133433.3(NIPBL): c.3855+1G> T single nucleotide variant Pathogenic rs587783933 GRCh38 Chromosome 5, 37003348: 37003348
229 NIPBL NM_133433.3(NIPBL): c.3855+5G> A single nucleotide variant Likely pathogenic rs80358378 GRCh37 Chromosome 5, 37003454: 37003454
230 NIPBL NM_133433.3(NIPBL): c.3855+5G> A single nucleotide variant Likely pathogenic rs80358378 GRCh38 Chromosome 5, 37003352: 37003352
231 NIPBL NM_133433.3(NIPBL): c.3856-12A> C single nucleotide variant Uncertain significance rs199847583 GRCh37 Chromosome 5, 37006447: 37006447
232 NIPBL NM_133433.3(NIPBL): c.3856-12A> C single nucleotide variant Uncertain significance rs199847583 GRCh38 Chromosome 5, 37006345: 37006345
233 NIPBL NM_015384.4(NIPBL): c.3866_3869delCTGA (p.Thr1289Lysfs) deletion Pathogenic rs587783934 GRCh37 Chromosome 5, 37006469: 37006472
234 NIPBL NM_015384.4(NIPBL): c.3866_3869delCTGA (p.Thr1289Lysfs) deletion Pathogenic rs587783934 GRCh38 Chromosome 5, 37006367: 37006370
235 NIPBL NM_133433.3(NIPBL): c.3868G> A (p.Glu1290Lys) single nucleotide variant Uncertain significance rs587783935 GRCh37 Chromosome 5, 37006471: 37006471
236 NIPBL NM_133433.3(NIPBL): c.3868G> A (p.Glu1290Lys) single nucleotide variant Uncertain significance rs587783935 GRCh38 Chromosome 5, 37006369: 37006369
237 NIPBL NM_133433.3(NIPBL): c.3874G> T (p.Glu1292Ter) single nucleotide variant Pathogenic rs587783936 GRCh37 Chromosome 5, 37006477: 37006477
238 NIPBL NM_133433.3(NIPBL): c.3874G> T (p.Glu1292Ter) single nucleotide variant Pathogenic rs587783936 GRCh38 Chromosome 5, 37006375: 37006375
239 NIPBL NM_133433.3(NIPBL): c.4017C> A (p.Tyr1339Ter) single nucleotide variant Pathogenic rs587783938 GRCh37 Chromosome 5, 37006620: 37006620
240 NIPBL NM_133433.3(NIPBL): c.4017C> A (p.Tyr1339Ter) single nucleotide variant Pathogenic rs587783938 GRCh38 Chromosome 5, 37006518: 37006518
241 NIPBL NM_133433.3(NIPBL): c.4088-2A> T single nucleotide variant Pathogenic rs587783939 GRCh37 Chromosome 5, 37007423: 37007423
242 NIPBL NM_133433.3(NIPBL): c.4088-2A> T single nucleotide variant Pathogenic rs587783939 GRCh38 Chromosome 5, 37007321: 37007321
243 NIPBL NM_015384.4(NIPBL): c.4098_4101delAAGT (p.Leu1366Phefs) deletion Pathogenic rs587783940 GRCh37 Chromosome 5, 37007435: 37007438
244 NIPBL NM_015384.4(NIPBL): c.4098_4101delAAGT (p.Leu1366Phefs) deletion Pathogenic rs587783940 GRCh38 Chromosome 5, 37007333: 37007336
245 NIPBL NM_015384.4(NIPBL): c.4143_4144delAG (p.Arg1381Serfs) deletion Pathogenic rs587783941 GRCh37 Chromosome 5, 37007480: 37007481
246 NIPBL NM_015384.4(NIPBL): c.4143_4144delAG (p.Arg1381Serfs) deletion Pathogenic rs587783941 GRCh38 Chromosome 5, 37007378: 37007379
247 NIPBL NM_133433.3(NIPBL): c.4240-1G> C single nucleotide variant Pathogenic rs587783942 GRCh37 Chromosome 5, 37008109: 37008109
248 NIPBL NM_133433.3(NIPBL): c.4240-1G> C single nucleotide variant Pathogenic rs587783942 GRCh38 Chromosome 5, 37008007: 37008007
249 NIPBL NM_015384.4(NIPBL): c.4275_4287delAAATGTCAGTGAA (p.Glu1425Aspfs) deletion Pathogenic rs587783944 GRCh37 Chromosome 5, 37008145: 37008157
250 NIPBL NM_015384.4(NIPBL): c.4275_4287delAAATGTCAGTGAA (p.Glu1425Aspfs) deletion Pathogenic rs587783944 GRCh38 Chromosome 5, 37008043: 37008055
251 NIPBL NM_133433.3(NIPBL): c.4320+1G> A single nucleotide variant Pathogenic rs587783945 GRCh37 Chromosome 5, 37008191: 37008191
252 NIPBL NM_133433.3(NIPBL): c.4320+1G> A single nucleotide variant Pathogenic rs587783945 GRCh38 Chromosome 5, 37008089: 37008089
253 NIPBL NM_133433.3(NIPBL): c.4321-15A> G single nucleotide variant Uncertain significance rs587783946 GRCh37 Chromosome 5, 37008710: 37008710
254 NIPBL NM_133433.3(NIPBL): c.4321-15A> G single nucleotide variant Uncertain significance rs587783946 GRCh38 Chromosome 5, 37008608: 37008608
255 NIPBL NM_133433.3(NIPBL): c.4421G> C (p.Arg1474Thr) single nucleotide variant Likely pathogenic rs587783947 GRCh37 Chromosome 5, 37008825: 37008825
256 NIPBL NM_133433.3(NIPBL): c.4421G> C (p.Arg1474Thr) single nucleotide variant Likely pathogenic rs587783947 GRCh38 Chromosome 5, 37008723: 37008723
257 NIPBL NM_133433.3(NIPBL): c.4439T> G (p.Met1480Arg) single nucleotide variant Likely pathogenic rs587783948 GRCh37 Chromosome 5, 37010206: 37010206
258 NIPBL NM_133433.3(NIPBL): c.4439T> G (p.Met1480Arg) single nucleotide variant Likely pathogenic rs587783948 GRCh38 Chromosome 5, 37010104: 37010104
259 NIPBL NM_133433.3(NIPBL): c.4543G> T (p.Glu1515Ter) single nucleotide variant Pathogenic rs587783950 GRCh37 Chromosome 5, 37010310: 37010310
260 NIPBL NM_133433.3(NIPBL): c.4543G> T (p.Glu1515Ter) single nucleotide variant Pathogenic rs587783950 GRCh38 Chromosome 5, 37010208: 37010208
261 NIPBL NM_133433.3(NIPBL): c.4593T> G (p.Tyr1531Ter) single nucleotide variant Pathogenic rs587783952 GRCh37 Chromosome 5, 37014817: 37014817
262 NIPBL NM_133433.3(NIPBL): c.4593T> G (p.Tyr1531Ter) single nucleotide variant Pathogenic rs587783952 GRCh38 Chromosome 5, 37014715: 37014715
263 NIPBL NM_015384.4(NIPBL): c.4636delC (p.Lys1548Asnfs) deletion Pathogenic rs587783953 GRCh37 Chromosome 5, 37014860: 37014860
264 NIPBL NM_015384.4(NIPBL): c.4636delC (p.Lys1548Asnfs) deletion Pathogenic rs587783953 GRCh38 Chromosome 5, 37014758: 37014758
265 NIPBL NM_133433.3(NIPBL): c.4643+1G> C single nucleotide variant Pathogenic rs587783954 GRCh37 Chromosome 5, 37014868: 37014868
266 NIPBL NM_133433.3(NIPBL): c.4643+1G> C single nucleotide variant Pathogenic rs587783954 GRCh38 Chromosome 5, 37014766: 37014766
267 NIPBL NM_015384.4(NIPBL): c.4663delG (p.Glu1555Lysfs) deletion Pathogenic rs587783955 GRCh37 Chromosome 5, 37016159: 37016159
268 NIPBL NM_015384.4(NIPBL): c.4663delG (p.Glu1555Lysfs) deletion Pathogenic rs587783955 GRCh38 Chromosome 5, 37016057: 37016057
269 NIPBL NM_015384.4(NIPBL): c.4684_4687delTTTG (p.Phe1562Lysfs) deletion Pathogenic rs587783957 GRCh37 Chromosome 5, 37016180: 37016183
270 NIPBL NM_015384.4(NIPBL): c.4684_4687delTTTG (p.Phe1562Lysfs) deletion Pathogenic rs587783957 GRCh38 Chromosome 5, 37016078: 37016081
271 NIPBL NM_133433.3(NIPBL): c.4712C> A (p.Ser1571Ter) single nucleotide variant Pathogenic rs77632238 GRCh37 Chromosome 5, 37016208: 37016208
272 NIPBL NM_133433.3(NIPBL): c.4712C> A (p.Ser1571Ter) single nucleotide variant Pathogenic rs77632238 GRCh38 Chromosome 5, 37016106: 37016106
273 NIPBL NM_133433.3(NIPBL): c.4731A> G (p.Glu1577=) single nucleotide variant Conflicting interpretations of pathogenicity rs140021654 GRCh37 Chromosome 5, 37016227: 37016227
274 NIPBL NM_133433.3(NIPBL): c.4731A> G (p.Glu1577=) single nucleotide variant Conflicting interpretations of pathogenicity rs140021654 GRCh38 Chromosome 5, 37016125: 37016125
275 NIPBL NM_015384.4(NIPBL): c.4818_4819delAG (p.Arg1606Serfs) deletion Pathogenic rs587783959 GRCh37 Chromosome 5, 37017162: 37017163
276 NIPBL NM_015384.4(NIPBL): c.4818_4819delAG (p.Arg1606Serfs) deletion Pathogenic rs587783959 GRCh38 Chromosome 5, 37017060: 37017061
277 NIPBL NM_015384.4(NIPBL): c.5033_5039delCCCAGTG (p.Ala1678Glyfs) deletion Pathogenic rs587783960 GRCh37 Chromosome 5, 37020583: 37020589
278 NIPBL NM_015384.4(NIPBL): c.5033_5039delCCCAGTG (p.Ala1678Glyfs) deletion Pathogenic rs587783960 GRCh38 Chromosome 5, 37020481: 37020487
279 NIPBL NM_015384.4(NIPBL): c.5174delA (p.Lys1725Serfs) deletion Pathogenic rs587783961 GRCh37 Chromosome 5, 37020724: 37020724
280 NIPBL NM_015384.4(NIPBL): c.5174delA (p.Lys1725Serfs) deletion Pathogenic rs587783961 GRCh38 Chromosome 5, 37020622: 37020622
281 NIPBL NM_133433.3(NIPBL): c.5327A> T (p.Gln1776Leu) single nucleotide variant Likely pathogenic rs587783966 GRCh37 Chromosome 5, 37020978: 37020978
282 NIPBL NM_133433.3(NIPBL): c.5327A> T (p.Gln1776Leu) single nucleotide variant Likely pathogenic rs587783966 GRCh38 Chromosome 5, 37020876: 37020876
283 NIPBL NM_133433.3(NIPBL): c.5328+1G> A single nucleotide variant Pathogenic rs587783967 GRCh37 Chromosome 5, 37020980: 37020980
284 NIPBL NM_133433.3(NIPBL): c.5328+1G> A single nucleotide variant Pathogenic rs587783967 GRCh38 Chromosome 5, 37020878: 37020878
285 NIPBL NM_133433.3(NIPBL): c.5329-1G> C single nucleotide variant Pathogenic rs587783969 GRCh37 Chromosome 5, 37022152: 37022152
286 NIPBL NM_133433.3(NIPBL): c.5329-1G> C single nucleotide variant Pathogenic rs587783969 GRCh38 Chromosome 5, 37022050: 37022050
287 NIPBL NM_133433.3(NIPBL): c.5330T> G (p.Ile1777Ser) single nucleotide variant Uncertain significance rs587783970 GRCh37 Chromosome 5, 37022154: 37022154
288 NIPBL NM_133433.3(NIPBL): c.5330T> G (p.Ile1777Ser) single nucleotide variant Uncertain significance rs587783970 GRCh38 Chromosome 5, 37022052: 37022052
289 NIPBL NM_133433.3(NIPBL): c.5335C> T (p.Arg1779Ter) single nucleotide variant Pathogenic rs587783971 GRCh37 Chromosome 5, 37022159: 37022159
290 NIPBL NM_133433.3(NIPBL): c.5335C> T (p.Arg1779Ter) single nucleotide variant Pathogenic rs587783971 GRCh38 Chromosome 5, 37022057: 37022057
291 NIPBL NM_133433.3(NIPBL): c.5365C> T (p.Arg1789Ter) single nucleotide variant Pathogenic rs587783972 GRCh37 Chromosome 5, 37022189: 37022189
292 NIPBL NM_133433.3(NIPBL): c.5365C> T (p.Arg1789Ter) single nucleotide variant Pathogenic rs587783972 GRCh38 Chromosome 5, 37022087: 37022087
293 NIPBL NM_015384.4(NIPBL): c.5389_5392delTCTG (p.Ser1797Argfs) deletion Pathogenic rs587783973 GRCh37 Chromosome 5, 37022213: 37022216
294 NIPBL NM_015384.4(NIPBL): c.5389_5392delTCTG (p.Ser1797Argfs) deletion Pathogenic rs587783973 GRCh38 Chromosome 5, 37022111: 37022114
295 NIPBL NM_133433.3(NIPBL): c.5428-2A> G single nucleotide variant Pathogenic rs587783974 GRCh37 Chromosome 5, 37022344: 37022344
296 NIPBL NM_133433.3(NIPBL): c.5428-2A> G single nucleotide variant Pathogenic rs587783974 GRCh38 Chromosome 5, 37022242: 37022242
297 NIPBL NM_133433.3(NIPBL): c.5455C> T (p.Arg1819Ter) single nucleotide variant Pathogenic rs587783975 GRCh37 Chromosome 5, 37022373: 37022373
298 NIPBL NM_133433.3(NIPBL): c.5455C> T (p.Arg1819Ter) single nucleotide variant Pathogenic rs587783975 GRCh38 Chromosome 5, 37022271: 37022271
299 NIPBL NM_133433.3(NIPBL): c.5464G> T (p.Asp1822Tyr) single nucleotide variant Uncertain significance rs587783976 GRCh37 Chromosome 5, 37022382: 37022382
300 NIPBL NM_133433.3(NIPBL): c.5464G> T (p.Asp1822Tyr) single nucleotide variant Uncertain significance rs587783976 GRCh38 Chromosome 5, 37022280: 37022280
301 NIPBL NM_133433.3(NIPBL): c.5465A> G (p.Asp1822Gly) single nucleotide variant Likely pathogenic rs587783977 GRCh37 Chromosome 5, 37022383: 37022383
302 NIPBL NM_133433.3(NIPBL): c.5465A> G (p.Asp1822Gly) single nucleotide variant Likely pathogenic rs587783977 GRCh38 Chromosome 5, 37022281: 37022281
303 NIPBL NM_133433.3(NIPBL): c.5482C> T (p.Arg1828Ter) single nucleotide variant Pathogenic rs62654864 GRCh37 Chromosome 5, 37022400: 37022400
304 NIPBL NM_133433.3(NIPBL): c.5482C> T (p.Arg1828Ter) single nucleotide variant Pathogenic rs62654864 GRCh38 Chromosome 5, 37022298: 37022298
305 NIPBL NM_133433.3(NIPBL): c.5483G> A (p.Arg1828Gln) single nucleotide variant Pathogenic rs587783978 GRCh37 Chromosome 5, 37022401: 37022401
306 NIPBL NM_133433.3(NIPBL): c.5483G> A (p.Arg1828Gln) single nucleotide variant Pathogenic rs587783978 GRCh38 Chromosome 5, 37022299: 37022299
307 NIPBL NM_133433.3(NIPBL): c.5709+1G> A single nucleotide variant Pathogenic rs587783979 GRCh37 Chromosome 5, 37024822: 37024822
308 NIPBL NM_133433.3(NIPBL): c.5709+1G> A single nucleotide variant Pathogenic rs587783979 GRCh38 Chromosome 5, 37024720: 37024720
309 NIPBL NM_133433.3(NIPBL): c.5709+2T> G single nucleotide variant Pathogenic rs587783980 GRCh37 Chromosome 5, 37024823: 37024823
310 NIPBL NM_133433.3(NIPBL): c.5709+2T> G single nucleotide variant Pathogenic rs587783980 GRCh38 Chromosome 5, 37024721: 37024721
311 NIPBL NM_133433.3(NIPBL): c.5732A> C (p.Gln1911Pro) single nucleotide variant Likely pathogenic rs587783982 GRCh37 Chromosome 5, 37026353: 37026353
312 NIPBL NM_133433.3(NIPBL): c.5732A> C (p.Gln1911Pro) single nucleotide variant Likely pathogenic rs587783982 GRCh38 Chromosome 5, 37026251: 37026251
313 NIPBL NM_133433.3(NIPBL): c.5808+1G> A single nucleotide variant Pathogenic rs587783984 GRCh37 Chromosome 5, 37026430: 37026430
314 NIPBL NM_133433.3(NIPBL): c.5808+1G> A single nucleotide variant Pathogenic rs587783984 GRCh38 Chromosome 5, 37026328: 37026328
315 NIPBL NM_133433.3(NIPBL): c.5862+1G> A single nucleotide variant Pathogenic rs587783985 GRCh37 Chromosome 5, 37027515: 37027515
316 NIPBL NM_133433.3(NIPBL): c.5862+1G> A single nucleotide variant Pathogenic rs587783985 GRCh38 Chromosome 5, 37027413: 37027413
317 NIPBL NM_133433.3(NIPBL): c.5923G> T (p.Val1975Phe) single nucleotide variant Likely pathogenic rs587783986 GRCh37 Chromosome 5, 37036541: 37036541
318 NIPBL NM_133433.3(NIPBL): c.5923G> T (p.Val1975Phe) single nucleotide variant Likely pathogenic rs587783986 GRCh38 Chromosome 5, 37036439: 37036439
319 NIPBL NM_015384.4(NIPBL): c.5924_5926delTTG (p.Val1975del) deletion Likely pathogenic rs587783987 GRCh37 Chromosome 5, 37036542: 37036544
320 NIPBL NM_015384.4(NIPBL): c.5924_5926delTTG (p.Val1975del) deletion Likely pathogenic rs587783987 GRCh38 Chromosome 5, 37036440: 37036442
321 NIPBL NM_133433.3(NIPBL): c.5944A> C (p.Ile1982Leu) single nucleotide variant Uncertain significance rs370593530 GRCh37 Chromosome 5, 37036562: 37036562
322 NIPBL NM_133433.3(NIPBL): c.5944A> C (p.Ile1982Leu) single nucleotide variant Uncertain significance rs370593530 GRCh38 Chromosome 5, 37036460: 37036460
323 NIPBL NM_133433.3(NIPBL): c.6037A> C (p.Ser2013Arg) single nucleotide variant Uncertain significance rs587783989 GRCh37 Chromosome 5, 37038769: 37038769
324 NIPBL NM_133433.3(NIPBL): c.6037A> C (p.Ser2013Arg) single nucleotide variant Uncertain significance rs587783989 GRCh38 Chromosome 5, 37038667: 37038667
325 NIPBL NM_133433.3(NIPBL): c.6067C> A (p.His2023Asn) single nucleotide variant Uncertain significance rs587783990 GRCh37 Chromosome 5, 37038799: 37038799
326 NIPBL NM_133433.3(NIPBL): c.6067C> A (p.His2023Asn) single nucleotide variant Uncertain significance rs587783990 GRCh38 Chromosome 5, 37038697: 37038697
327 NIPBL NM_133433.3(NIPBL): c.6068A> G (p.His2023Arg) single nucleotide variant Uncertain significance rs587783991 GRCh37 Chromosome 5, 37038800: 37038800
328 NIPBL NM_133433.3(NIPBL): c.6068A> G (p.His2023Arg) single nucleotide variant Uncertain significance rs587783991 GRCh38 Chromosome 5, 37038698: 37038698
329 NIPBL NM_133433.3(NIPBL): c.6071C> A (p.Ala2024Glu) single nucleotide variant Uncertain significance rs587783992 GRCh37 Chromosome 5, 37038803: 37038803
330 NIPBL NM_133433.3(NIPBL): c.6071C> A (p.Ala2024Glu) single nucleotide variant Uncertain significance rs587783992 GRCh38 Chromosome 5, 37038701: 37038701
331 NIPBL NM_133433.3(NIPBL): c.6108+1G> T single nucleotide variant Pathogenic rs587783994 GRCh37 Chromosome 5, 37038841: 37038841
332 NIPBL NM_133433.3(NIPBL): c.6108+1G> T single nucleotide variant Pathogenic rs587783994 GRCh38 Chromosome 5, 37038739: 37038739
333 NIPBL NM_133433.3(NIPBL): c.6108+7A> G single nucleotide variant Uncertain significance rs587783995 GRCh37 Chromosome 5, 37038847: 37038847
334 NIPBL NM_133433.3(NIPBL): c.6108+7A> G single nucleotide variant Uncertain significance rs587783995 GRCh38 Chromosome 5, 37038745: 37038745
335 NIPBL NM_133433.3(NIPBL): c.6158T> C (p.Leu2053Pro) single nucleotide variant Likely pathogenic rs587783997 GRCh37 Chromosome 5, 37044498: 37044498
336 NIPBL NM_133433.3(NIPBL): c.6158T> C (p.Leu2053Pro) single nucleotide variant Likely pathogenic rs587783997 GRCh38 Chromosome 5, 37044396: 37044396
337 NIPBL NM_133433.3(NIPBL): c.6170T> C (p.Leu2057Pro) single nucleotide variant Likely pathogenic rs587783998 GRCh37 Chromosome 5, 37044510: 37044510
338 NIPBL NM_133433.3(NIPBL): c.6170T> C (p.Leu2057Pro) single nucleotide variant Likely pathogenic rs587783998 GRCh38 Chromosome 5, 37044408: 37044408
339 NIPBL NM_133433.3(NIPBL): c.6182C> T (p.Pro2061Leu) single nucleotide variant Uncertain significance rs587783999 GRCh37 Chromosome 5, 37044522: 37044522
340 NIPBL NM_133433.3(NIPBL): c.6182C> T (p.Pro2061Leu) single nucleotide variant Uncertain significance rs587783999 GRCh38 Chromosome 5, 37044420: 37044420
341 NIPBL NM_133433.3(NIPBL): c.6242G> T (p.Gly2081Val) single nucleotide variant Likely pathogenic rs587784000 GRCh37 Chromosome 5, 37044582: 37044582
342 NIPBL NM_133433.3(NIPBL): c.6242G> T (p.Gly2081Val) single nucleotide variant Likely pathogenic rs587784000 GRCh38 Chromosome 5, 37044480: 37044480
343 NIPBL NM_133433.3(NIPBL): c.6250G> T (p.Val2084Leu) single nucleotide variant Likely pathogenic rs587784002 GRCh37 Chromosome 5, 37044738: 37044738
344 NIPBL NM_133433.3(NIPBL): c.6250G> T (p.Val2084Leu) single nucleotide variant Likely pathogenic rs587784002 GRCh38 Chromosome 5, 37044636: 37044636
345 NIPBL NM_133433.3(NIPBL): c.6266T> G (p.Val2089Gly) single nucleotide variant Likely pathogenic rs587784003 GRCh37 Chromosome 5, 37044754: 37044754
346 NIPBL NM_133433.3(NIPBL): c.6266T> G (p.Val2089Gly) single nucleotide variant Likely pathogenic rs587784003 GRCh38 Chromosome 5, 37044652: 37044652
347 NIPBL NM_133433.3(NIPBL): c.6316G> C (p.Val2106Leu) single nucleotide variant Likely pathogenic rs587784004 GRCh37 Chromosome 5, 37044804: 37044804
348 NIPBL NM_133433.3(NIPBL): c.6316G> C (p.Val2106Leu) single nucleotide variant Likely pathogenic rs587784004 GRCh38 Chromosome 5, 37044702: 37044702
349 NIPBL NM_015384.4(NIPBL): c.6317_6320delTGTG (p.Val2106Glyfs) deletion Pathogenic rs587784005 GRCh37 Chromosome 5, 37044805: 37044808
350 NIPBL NM_015384.4(NIPBL): c.6317_6320delTGTG (p.Val2106Glyfs) deletion Pathogenic rs587784005 GRCh38 Chromosome 5, 37044703: 37044706
351 NIPBL NM_133433.3(NIPBL): c.6343G> A (p.Gly2115Ser) single nucleotide variant Likely pathogenic rs587784007 GRCh37 Chromosome 5, 37044831: 37044831
352 NIPBL NM_133433.3(NIPBL): c.6343G> A (p.Gly2115Ser) single nucleotide variant Likely pathogenic rs587784007 GRCh38 Chromosome 5, 37044729: 37044729
353 NIPBL NM_133433.3(NIPBL): c.6343+5G> A single nucleotide variant Uncertain significance rs80358383 GRCh37 Chromosome 5, 37044836: 37044836
354 NIPBL NM_133433.3(NIPBL): c.6343+5G> A single nucleotide variant Uncertain significance rs80358383 GRCh38 Chromosome 5, 37044734: 37044734
355 NIPBL NM_015384.4(NIPBL): c.6362_6364delAAA (p.Lys2121del) deletion Likely pathogenic rs587784008 GRCh37 Chromosome 5, 37045563: 37045565
356 NIPBL NM_015384.4(NIPBL): c.6362_6364delAAA (p.Lys2121del) deletion Likely pathogenic rs587784008 GRCh38 Chromosome 5, 37045461: 37045463
357 NIPBL NM_133433.3(NIPBL): c.6478G> T (p.Asp2160Tyr) single nucleotide variant Likely pathogenic rs147054690 GRCh37 Chromosome 5, 37045679: 37045679
358 NIPBL NM_133433.3(NIPBL): c.6478G> T (p.Asp2160Tyr) single nucleotide variant Likely pathogenic rs147054690 GRCh38 Chromosome 5, 37045577: 37045577
359 NIPBL NM_133433.3(NIPBL): c.6565C> T (p.Gln2189Ter) single nucleotide variant Pathogenic rs587784013 GRCh37 Chromosome 5, 37046277: 37046277
360 NIPBL NM_133433.3(NIPBL): c.6565C> T (p.Gln2189Ter) single nucleotide variant Pathogenic rs587784013 GRCh38 Chromosome 5, 37046175: 37046175
361 NIPBL NM_133433.3(NIPBL): c.6568A> G (p.Thr2190Ala) single nucleotide variant Uncertain significance rs587784014 GRCh37 Chromosome 5, 37046280: 37046280
362 NIPBL NM_133433.3(NIPBL): c.6568A> G (p.Thr2190Ala) single nucleotide variant Uncertain significance rs587784014 GRCh38 Chromosome 5, 37046178: 37046178
363 NIPBL NM_133433.3(NIPBL): c.6571A> T (p.Lys2191Ter) single nucleotide variant Pathogenic rs587784015 GRCh37 Chromosome 5, 37046283: 37046283
364 NIPBL NM_133433.3(NIPBL): c.6571A> T (p.Lys2191Ter) single nucleotide variant Pathogenic rs587784015 GRCh38 Chromosome 5, 37046181: 37046181
365 NIPBL NM_133433.3(NIPBL): c.6589+9A> T single nucleotide variant Uncertain significance rs370709104 GRCh37 Chromosome 5, 37046310: 37046310
366 NIPBL NM_133433.3(NIPBL): c.6589+9A> T single nucleotide variant Uncertain significance rs370709104 GRCh38 Chromosome 5, 37046208: 37046208
367 NIPBL NM_133433.3(NIPBL): c.6590-2A> C single nucleotide variant Pathogenic rs587784016 GRCh37 Chromosome 5, 37048602: 37048602
368 NIPBL NM_133433.3(NIPBL): c.6590-2A> C single nucleotide variant Pathogenic rs587784016 GRCh38 Chromosome 5, 37048500: 37048500
369 NIPBL NM_133433.3(NIPBL): c.6590G> A (p.Gly2197Glu) single nucleotide variant Pathogenic rs587784017 GRCh37 Chromosome 5, 37048604: 37048604
370 NIPBL NM_133433.3(NIPBL): c.6590G> A (p.Gly2197Glu) single nucleotide variant Pathogenic rs587784017 GRCh38 Chromosome 5, 37048502: 37048502
371 NIPBL NM_015384.4(NIPBL): c.6632_6634delAAG (p.Glu2211del) deletion Likely pathogenic rs587784019 GRCh37 Chromosome 5, 37048646: 37048648
372 NIPBL NM_015384.4(NIPBL): c.6632_6634delAAG (p.Glu2211del) deletion Likely pathogenic rs587784019 GRCh38 Chromosome 5, 37048544: 37048546
373 NIPBL NM_133433.3(NIPBL): c.6646T> C (p.Tyr2216His) single nucleotide variant Uncertain significance rs587784020 GRCh37 Chromosome 5, 37048660: 37048660
374 NIPBL NM_133433.3(NIPBL): c.6646T> C (p.Tyr2216His) single nucleotide variant Uncertain significance rs587784020 GRCh38 Chromosome 5, 37048558: 37048558
375 NIPBL NM_015384.4(NIPBL): c.6648_6649delTA (p.Tyr2216Terfs) deletion Pathogenic rs587784021 GRCh37 Chromosome 5, 37048662: 37048663
376 NIPBL NM_015384.4(NIPBL): c.6648_6649delTA (p.Tyr2216Terfs) deletion Pathogenic rs587784021 GRCh38 Chromosome 5, 37048560: 37048561
377 NIPBL NM_015384.4(NIPBL): c.6653_6655delATA (p.Asn2218del) deletion Pathogenic rs587784022 GRCh37 Chromosome 5, 37048667: 37048669
378 NIPBL NM_015384.4(NIPBL): c.6653_6655delATA (p.Asn2218del) deletion Pathogenic rs587784022 GRCh38 Chromosome 5, 37048565: 37048567
379 NIPBL NM_133433.3(NIPBL): c.6707A> T (p.Asn2236Ile) single nucleotide variant Pathogenic rs587784023 GRCh37 Chromosome 5, 37048721: 37048721
380 NIPBL NM_133433.3(NIPBL): c.6707A> T (p.Asn2236Ile) single nucleotide variant Pathogenic rs587784023 GRCh38 Chromosome 5, 37048619: 37048619
381 NIPBL NM_133433.3(NIPBL): c.6892C> T (p.Arg2298Cys) single nucleotide variant Pathogenic rs80358376 GRCh37 Chromosome 5, 37049341: 37049341
382 NIPBL NM_133433.3(NIPBL): c.6892C> T (p.Arg2298Cys) single nucleotide variant Pathogenic rs80358376 GRCh38 Chromosome 5, 37049239: 37049239
383 NIPBL NM_133433.3(NIPBL): c.6893G> A (p.Arg2298His) single nucleotide variant Pathogenic rs587784024 GRCh37 Chromosome 5, 37049342: 37049342
384 NIPBL NM_133433.3(NIPBL): c.6893G> A (p.Arg2298His) single nucleotide variant Pathogenic rs587784024 GRCh38 Chromosome 5, 37049240: 37049240
385 NIPBL NM_133433.3(NIPBL): c.6935G> T (p.Gly2312Val) single nucleotide variant Likely pathogenic rs587784025 GRCh37 Chromosome 5, 37049384: 37049384
386 NIPBL NM_133433.3(NIPBL): c.6935G> T (p.Gly2312Val) single nucleotide variant Likely pathogenic rs587784025 GRCh38 Chromosome 5, 37049282: 37049282
387 NIPBL NM_133433.3(NIPBL): c.6952C> T (p.Gln2318Ter) single nucleotide variant Pathogenic rs587784026 GRCh37 Chromosome 5, 37049401: 37049401
388 NIPBL NM_133433.3(NIPBL): c.6952C> T (p.Gln2318Ter) single nucleotide variant Pathogenic rs587784026 GRCh38 Chromosome 5, 37049299: 37049299
389 NIPBL NM_133433.3(NIPBL): c.6954+1G> A single nucleotide variant Pathogenic rs587784027 GRCh37 Chromosome 5, 37049404: 37049404
390 NIPBL NM_133433.3(NIPBL): c.6954+1G> A single nucleotide variant Pathogenic rs587784027 GRCh38 Chromosome 5, 37049302: 37049302
391 NIPBL NM_133433.3(NIPBL): c.6993A> G (p.Glu2331=) single nucleotide variant Uncertain significance rs587784028 GRCh37 Chromosome 5, 37051919: 37051919
392 NIPBL NM_133433.3(NIPBL): c.6993A> G (p.Glu2331=) single nucleotide variant Uncertain significance rs587784028 GRCh38 Chromosome 5, 37051817: 37051817
393 NIPBL NM_015384.4(NIPBL): c.7011_7012delGG (p.Lys2337Asnfs) deletion Pathogenic rs587784029 GRCh37 Chromosome 5, 37051937: 37051938
394 NIPBL NM_015384.4(NIPBL): c.7011_7012delGG (p.Lys2337Asnfs) deletion Pathogenic rs587784029 GRCh38 Chromosome 5, 37051835: 37051836
395 NIPBL NM_133433.3(NIPBL): c.7012G> C (p.Ala2338Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587784030 GRCh37 Chromosome 5, 37051938: 37051938
396 NIPBL NM_133433.3(NIPBL): c.7012G> C (p.Ala2338Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587784030 GRCh38 Chromosome 5, 37051836: 37051836
397 NIPBL NM_133433.3(NIPBL): c.7024C> T (p.Leu2342Phe) single nucleotide variant Uncertain significance rs587784031 GRCh37 Chromosome 5, 37051950: 37051950
398 NIPBL NM_133433.3(NIPBL): c.7024C> T (p.Leu2342Phe) single nucleotide variant Uncertain significance rs587784031 GRCh38 Chromosome 5, 37051848: 37051848
399 NIPBL NM_133433.3(NIPBL): c.7062+2T> C single nucleotide variant Pathogenic rs587784032 GRCh37 Chromosome 5, 37051990: 37051990
400 NIPBL NM_133433.3(NIPBL): c.7062+2T> C single nucleotide variant Pathogenic rs587784032 GRCh38 Chromosome 5, 37051888: 37051888
401 NIPBL NM_133433.3(NIPBL): c.7102C> T (p.Gln2368Ter) single nucleotide variant Pathogenic rs587784033 GRCh37 Chromosome 5, 37052507: 37052507
402 NIPBL NM_133433.3(NIPBL): c.7102C> T (p.Gln2368Ter) single nucleotide variant Pathogenic rs587784033 GRCh38 Chromosome 5, 37052405: 37052405
403 NIPBL NM_015384.4(NIPBL): c.7106delA (p.Gln2369Argfs) deletion Pathogenic rs587784034 GRCh37 Chromosome 5, 37052511: 37052511
404 NIPBL NM_015384.4(NIPBL): c.7106delA (p.Gln2369Argfs) deletion Pathogenic rs587784034 GRCh38 Chromosome 5, 37052409: 37052409
405 NIPBL NM_133433.3(NIPBL): c.7141G> A (p.Gly2381Ser) single nucleotide variant Likely pathogenic rs587784035 GRCh37 Chromosome 5, 37052546: 37052546
406 NIPBL NM_133433.3(NIPBL): c.7141G> A (p.Gly2381Ser) single nucleotide variant Likely pathogenic rs587784035 GRCh38 Chromosome 5, 37052444: 37052444
407 NIPBL NM_133433.3(NIPBL): c.7168G> A (p.Ala2390Thr) single nucleotide variant Pathogenic/Likely pathogenic rs587784036 GRCh37 Chromosome 5, 37052573: 37052573
408 NIPBL NM_133433.3(NIPBL): c.7168G> A (p.Ala2390Thr) single nucleotide variant Pathogenic/Likely pathogenic rs587784036 GRCh38 Chromosome 5, 37052471: 37052471
409 NIPBL NM_015384.4(NIPBL): c.7198delC (p.Arg2400Valfs) deletion Pathogenic rs587784037 GRCh37 Chromosome 5, 37052603: 37052603
410 NIPBL NM_015384.4(NIPBL): c.7198delC (p.Arg2400Valfs) deletion Pathogenic rs587784037 GRCh38 Chromosome 5, 37052501: 37052501
411 NIPBL NM_133433.3(NIPBL): c.7264-6T> G single nucleotide variant Pathogenic rs587784038 GRCh37 Chromosome 5, 37057282: 37057282
412 NIPBL NM_133433.3(NIPBL): c.7264-6T> G single nucleotide variant Pathogenic rs587784038 GRCh38 Chromosome 5, 37057180: 37057180
413 NIPBL NM_133433.3(NIPBL): c.7306G> A (p.Ala2436Thr) single nucleotide variant Likely pathogenic rs587784039 GRCh37 Chromosome 5, 37057330: 37057330
414 NIPBL NM_133433.3(NIPBL): c.7306G> A (p.Ala2436Thr) single nucleotide variant Likely pathogenic rs587784039 GRCh38 Chromosome 5, 37057228: 37057228
415 NIPBL NM_015384.4(NIPBL): c.7336_7338delCCG (p.Pro2446del) deletion Likely pathogenic rs587784040 GRCh37 Chromosome 5, 37057360: 37057362
416 NIPBL NM_015384.4(NIPBL): c.7336_7338delCCG (p.Pro2446del) deletion Likely pathogenic rs587784040 GRCh38 Chromosome 5, 37057258: 37057260
417 NIPBL NM_015384.4(NIPBL): c.7348_7350delATG (p.Met2450del) deletion Uncertain significance rs587784041 GRCh37 Chromosome 5, 37057372: 37057374
418 NIPBL NM_015384.4(NIPBL): c.7348_7350delATG (p.Met2450del) deletion Uncertain significance rs587784041 GRCh38 Chromosome 5, 37057270: 37057272
419 NIPBL NM_133433.3(NIPBL): c.7439_7440delGA (p.Arg2480Lysfs) deletion Pathogenic rs587784043 GRCh37 Chromosome 5, 37059021: 37059022
420 NIPBL NM_133433.3(NIPBL): c.7439_7440delGA (p.Arg2480Lysfs) deletion Pathogenic rs587784043 GRCh38 Chromosome 5, 37058919: 37058920
421 NIPBL NM_015384.4(NIPBL): c.7542_7547delTTCAGA (p.Asp2514_Ser2515del) deletion Uncertain significance rs587784044 GRCh37 Chromosome 5, 37059124: 37059129
422 NIPBL NM_015384.4(NIPBL): c.7542_7547delTTCAGA (p.Asp2514_Ser2515del) deletion Uncertain significance rs587784044 GRCh38 Chromosome 5, 37059022: 37059027
423 NIPBL NM_133433.3(NIPBL): c.7625G> A (p.Gly2542Asp) single nucleotide variant Uncertain significance rs587784045 GRCh37 Chromosome 5, 37059207: 37059207
424 NIPBL NM_133433.3(NIPBL): c.7625G> A (p.Gly2542Asp) single nucleotide variant Uncertain significance rs587784045 GRCh38 Chromosome 5, 37059105: 37059105
425 NIPBL NM_133433.3(NIPBL): c.7641C> T (p.Leu2547=) single nucleotide variant Uncertain significance rs587784046 GRCh37 Chromosome 5, 37059223: 37059223
426 NIPBL NM_133433.3(NIPBL): c.7641C> T (p.Leu2547=) single nucleotide variant Uncertain significance rs587784046 GRCh38 Chromosome 5, 37059121: 37059121
427 NIPBL NM_015384.4(NIPBL): c.7701_7725del25 (p.Ser2568Metfs) deletion Pathogenic rs587784047 GRCh37 Chromosome 5, 37060961: 37060985
428 NIPBL NM_015384.4(NIPBL): c.7701_7725del25 (p.Ser2568Metfs) deletion Pathogenic rs587784047 GRCh38 Chromosome 5, 37060859: 37060883
429 NIPBL NM_133433.3(NIPBL): c.7849C> T (p.Gln2617Ter) single nucleotide variant Pathogenic rs587784050 GRCh37 Chromosome 5, 37061109: 37061109
430 NIPBL NM_133433.3(NIPBL): c.7849C> T (p.Gln2617Ter) single nucleotide variant Pathogenic rs587784050 GRCh38 Chromosome 5, 37061007: 37061007
431 NIPBL NM_133433.3(NIPBL): c.8165_8183del19 (p.Pro2722Argfs) deletion Pathogenic rs587784052 GRCh37 Chromosome 5, 37064744: 37064762
432 NIPBL NM_133433.3(NIPBL): c.8165_8183del19 (p.Pro2722Argfs) deletion Pathogenic rs587784052 GRCh38 Chromosome 5, 37064642: 37064660
433 NIPBL NM_133433.3(NIPBL): c.8173G> C (p.Ala2725Pro) single nucleotide variant Likely pathogenic rs587784053 GRCh37 Chromosome 5, 37064752: 37064752
434 NIPBL NM_133433.3(NIPBL): c.8173G> C (p.Ala2725Pro) single nucleotide variant Likely pathogenic rs587784053 GRCh38 Chromosome 5, 37064650: 37064650
435 NIPBL NM_133433.3(NIPBL): c.8277_8283delGGTGCCT (p.Val2760Glyfs) deletion Pathogenic rs587784055 GRCh37 Chromosome 5, 37064856: 37064862
436 NIPBL NM_133433.3(NIPBL): c.8277_8283delGGTGCCT (p.Val2760Glyfs) deletion Pathogenic rs587784055 GRCh38 Chromosome 5, 37064754: 37064760
437 NIPBL NM_133433.3(NIPBL): c.8300_8301delAA (p.Lys2767Argfs) deletion Pathogenic rs587784056 GRCh37 Chromosome 5, 37064879: 37064880
438 NIPBL NM_133433.3(NIPBL): c.8300_8301delAA (p.Lys2767Argfs) deletion Pathogenic rs587784056 GRCh38 Chromosome 5, 37064777: 37064778
439 NIPBL NM_133433.3(NIPBL): c.8336C> T (p.Thr2779Met) single nucleotide variant Uncertain significance rs587784057 GRCh37 Chromosome 5, 37064915: 37064915
440 NIPBL NM_133433.3(NIPBL): c.8336C> T (p.Thr2779Met) single nucleotide variant Uncertain significance rs587784057 GRCh38 Chromosome 5, 37064813: 37064813
441 NIPBL NM_015384.4(NIPBL): c.6701T> G (p.Leu2234Ter) single nucleotide variant Pathogenic rs727504047 GRCh37 Chromosome 5, 37048715: 37048715
442 NIPBL NM_015384.4(NIPBL): c.6701T> G (p.Leu2234Ter) single nucleotide variant Pathogenic rs727504047 GRCh38 Chromosome 5, 37048613: 37048613
443 NIPBL NM_015384.4(NIPBL): c.65-3T> G single nucleotide variant Pathogenic rs727503768 GRCh38 Chromosome 5, 36955469: 36955469
444 NIPBL NM_015384.4(NIPBL): c.65-3T> G single nucleotide variant Pathogenic rs727503768 GRCh37 Chromosome 5, 36955571: 36955571
445 NIPBL NM_015384.4(NIPBL): c.914C> A (p.Ser305Ter) single nucleotide variant Pathogenic rs727503770 GRCh38 Chromosome 5, 36975821: 36975821
446 NIPBL NM_015384.4(NIPBL): c.914C> A (p.Ser305Ter) single nucleotide variant Pathogenic rs727503770 GRCh37 Chromosome 5, 36975923: 36975923
447 NIPBL NM_015384.4(NIPBL): c.1801delA (p.Lys603Serfs) deletion Pathogenic rs727503767 GRCh37 Chromosome 5, 36985083: 36985083
448 NIPBL NM_015384.4(NIPBL): c.1801delA (p.Lys603Serfs) deletion Pathogenic rs727503767 GRCh38 Chromosome 5, 36984981: 36984981
449 NIPBL NM_015384.4(NIPBL): c.2147_2148delAA (p.Lys717Glufs) deletion Pathogenic rs727503766 GRCh37 Chromosome 5, 36985429: 36985430
450 NIPBL NM_015384.4(NIPBL): c.2147_2148delAA (p.Lys717Glufs) deletion Pathogenic rs727503766 GRCh38 Chromosome 5, 36985327: 36985328
451 NIPBL NM_015384.4(NIPBL): c.4321G> T (p.Val1441Leu) single nucleotide variant Pathogenic rs727503769 GRCh37 Chromosome 5, 37008725: 37008725
452 NIPBL NM_015384.4(NIPBL): c.4321G> T (p.Val1441Leu) single nucleotide variant Pathogenic rs727503769 GRCh38 Chromosome 5, 37008623: 37008623
453 NIPBL NM_015384.4(NIPBL): c.5211_5212insT (p.Ser1739Terfs) duplication Pathogenic rs730880331 GRCh37 Chromosome 5, 37020762: 37020762
454 NIPBL NM_015384.4(NIPBL): c.5211_5212insT (p.Ser1739Terfs) duplication Pathogenic rs730880331 GRCh38 Chromosome 5, 37020660: 37020660
455 NIPBL NM_015384.4(NIPBL): c.7637T> C (p.Leu2546Pro) single nucleotide variant Pathogenic rs727503772 GRCh38 Chromosome 5, 37059117: 37059117
456 NIPBL NM_015384.4(NIPBL): c.7637T> C (p.Leu2546Pro) single nucleotide variant Pathogenic rs727503772 GRCh37 Chromosome 5, 37059219: 37059219
457 NIPBL NM_015384.4(NIPBL): c.7900_7937del38 (p.Glu2635Glnfs) deletion Pathogenic rs727503771 GRCh37 Chromosome 5, 37063931: 37063968
458 NIPBL NM_015384.4(NIPBL): c.7900_7937del38 (p.Glu2635Glnfs) deletion Pathogenic rs727503771 GRCh38 Chromosome 5, 37063829: 37063866
459 TAF6 NM_005641.3(TAF6): c.136C> T (p.Arg46Cys) single nucleotide variant Pathogenic rs727503778 GRCh38 Chromosome 7, 100114074: 100114074
460 TAF6 NM_005641.3(TAF6): c.136C> T (p.Arg46Cys) single nucleotide variant Pathogenic rs727503778 GRCh37 Chromosome 7, 99711697: 99711697
461 KMT2A NM_005933.3(KMT2A): c.2233C> T (p.Arg745Ter) single nucleotide variant Pathogenic rs727503777 GRCh38 Chromosome 11, 118473392: 118473392
462 KMT2A NM_005933.3(KMT2A): c.2233C> T (p.Arg745Ter) single nucleotide variant Pathogenic rs727503777 GRCh37 Chromosome 11, 118344107: 118344107
463 NIPBL NM_015384.4(NIPBL): c.5808+2T> G single nucleotide variant Pathogenic rs794727556 GRCh37 Chromosome 5, 37026431: 37026431
464 NIPBL NM_015384.4(NIPBL): c.5808+2T> G single nucleotide variant Pathogenic rs794727556 GRCh38 Chromosome 5, 37026329: 37026329
465 NIPBL NM_015384.4(NIPBL): c.6108+1G> C single nucleotide variant Pathogenic rs587783994 GRCh37 Chromosome 5, 37038841: 37038841
466 NIPBL NM_015384.4(NIPBL): c.6108+1G> C single nucleotide variant Pathogenic rs587783994 GRCh38 Chromosome 5, 37038739: 37038739
467 NIPBL NM_015384.4(NIPBL): c.212_213dupAG (p.Val72Argfs) duplication Pathogenic rs797045749 GRCh37 Chromosome 5, 36955721: 36955722
468 NIPBL NM_015384.4(NIPBL): c.212_213dupAG (p.Val72Argfs) duplication Pathogenic rs797045749 GRCh38 Chromosome 5, 36955619: 36955620
469 NIPBL NM_133433.3(NIPBL): c.286_287insG (p.Leu96Cysfs) insertion Pathogenic rs797045753 GRCh37 Chromosome 5, 36958261: 36958262
470 NIPBL NM_133433.3(NIPBL): c.286_287insG (p.Leu96Cysfs) insertion Pathogenic rs797045753 GRCh38 Chromosome 5, 36958159: 36958160
471 NIPBL NM_133433.3(NIPBL): c.314_315insA (p.Asn105Lysfs) duplication Pathogenic rs797045755 GRCh38 Chromosome 5, 36958187: 36958187
472 NIPBL NM_133433.3(NIPBL): c.314_315insA (p.Asn105Lysfs) duplication Pathogenic rs797045755 GRCh37 Chromosome 5, 36958289: 36958289
473 NIPBL NM_133433.3(NIPBL): c.458+1_458+2dup duplication Pathogenic rs797045763 GRCh38 Chromosome 5, 36961584: 36961585
474 NIPBL NM_133433.3(NIPBL): c.458+1_458+2dup duplication Pathogenic rs797045763 GRCh37 Chromosome 5, 36961686: 36961687
475 NIPBL NM_015384.4(NIPBL): c.1146dupT (p.Ser383Terfs) duplication Pathogenic rs797045745 GRCh37 Chromosome 5, 36976155: 36976155
476 NIPBL NM_015384.4(NIPBL): c.1146dupT (p.Ser383Terfs) duplication Pathogenic rs797045745 GRCh38 Chromosome 5, 36976053: 36976053
477 NIPBL NM_015384.4(NIPBL): c.1448_1449delAAinsCTCCCTT (p.Glu483Alafs) indel Pathogenic rs797045746 GRCh37 Chromosome 5, 36976457: 36976458
478 NIPBL NM_015384.4(NIPBL): c.1448_1449delAAinsCTCCCTT (p.Glu483Alafs) indel Pathogenic rs797045746 GRCh38 Chromosome 5, 36976355: 36976356
479 NIPBL NM_133433.3(NIPBL): c.1496-8A> G single nucleotide variant Likely pathogenic rs797045747 GRCh38 Chromosome 5, 36984668: 36984668
480 NIPBL NM_133433.3(NIPBL): c.1496-8A> G single nucleotide variant Likely pathogenic rs797045747 GRCh37 Chromosome 5, 36984770: 36984770
481 NIPBL NM_133433.3(NIPBL): c.1992_1993insC (p.Glu665Argfs) duplication Pathogenic rs797045748 GRCh38 Chromosome 5, 36985172: 36985172
482 NIPBL NM_133433.3(NIPBL): c.1992_1993insC (p.Glu665Argfs) duplication Pathogenic rs797045748 GRCh37 Chromosome 5, 36985274: 36985274
483 NIPBL NM_015384.4(NIPBL): c.2394_2397dupTGAA (p.Ala800Terfs) duplication Pathogenic rs797045750 GRCh38 Chromosome 5, 36985574: 36985577
484 NIPBL NM_015384.4(NIPBL): c.2394_2397dupTGAA (p.Ala800Terfs) duplication Pathogenic rs797045750 GRCh37 Chromosome 5, 36985676: 36985679
485 NIPBL NM_015384.4(NIPBL): c.2464delC (p.Gln822Lysfs) deletion Pathogenic rs797045751 GRCh38 Chromosome 5, 36985644: 36985644
486 NIPBL NM_015384.4(NIPBL): c.2464delC (p.Gln822Lysfs) deletion Pathogenic rs797045751 GRCh37 Chromosome 5, 36985746: 36985746
487 NIPBL NM_133433.3(NIPBL): c.2521C> T (p.Arg841Ter) single nucleotide variant Pathogenic rs797045752 GRCh38 Chromosome 5, 36985701: 36985701
488 NIPBL NM_133433.3(NIPBL): c.2521C> T (p.Arg841Ter) single nucleotide variant Pathogenic rs797045752 GRCh37 Chromosome 5, 36985803: 36985803
489 NIPBL NM_015384.4(NIPBL): c.2965dupA (p.Ile989Asnfs) duplication Pathogenic rs797045754 GRCh37 Chromosome 5, 36986247: 36986247
490 NIPBL NM_015384.4(NIPBL): c.2965dupA (p.Ile989Asnfs) duplication Pathogenic rs797045754 GRCh38 Chromosome 5, 36986145: 36986145
491 NIPBL NM_015384.4(NIPBL): c.3264delC (p.Ser1089Valfs) deletion Pathogenic rs797045756 GRCh37 Chromosome 5, 36995866: 36995866
492 NIPBL NM_015384.4(NIPBL): c.3264delC (p.Ser1089Valfs) deletion Pathogenic rs797045756 GRCh38 Chromosome 5, 36995764: 36995764
493 NIPBL NM_133433.3(NIPBL): c.3856-7_3856-5del deletion Likely pathogenic rs797045757 GRCh37 Chromosome 5, 37006452: 37006454
494 NIPBL NM_133433.3(NIPBL): c.3856-7_3856-5del deletion Likely pathogenic rs797045757 GRCh38 Chromosome 5, 37006350: 37006352
495 NIPBL NM_133433.3(NIPBL): c.4320+2dup duplication Likely pathogenic rs797045758 GRCh38 Chromosome 5, 37008090: 37008090
496 NIPBL NM_133433.3(NIPBL): c.4320+2dup duplication Likely pathogenic rs797045758 GRCh37 Chromosome 5, 37008192: 37008192
497 NIPBL NM_133433.3(NIPBL): c.4495C> T (p.Gln1499Ter) single nucleotide variant Pathogenic rs797045760 GRCh38 Chromosome 5, 37010160: 37010160
498 NIPBL NM_133433.3(NIPBL): c.4495C> T (p.Gln1499Ter) single nucleotide variant Pathogenic rs797045760 GRCh37 Chromosome 5, 37010262: 37010262
499 NIPBL NM_133433.3(NIPBL): c.4529dupA (p.Asp1510Glufs) duplication Pathogenic rs797045761 GRCh37 Chromosome 5, 37010296: 37010296
500 NIPBL NM_133433.3(NIPBL): c.4529dupA (p.Asp1510Glufs) duplication Pathogenic rs797045761 GRCh38 Chromosome 5, 37010194: 37010194
501 NIPBL NM_015384.4(NIPBL): c.4532_4533delCT (p.Ser1511Terfs) deletion Pathogenic rs797045762 GRCh38 Chromosome 5, 37010197: 37010198
502 NIPBL NM_015384.4(NIPBL): c.4532_4533delCT (p.Ser1511Terfs) deletion Pathogenic rs797045762 GRCh37 Chromosome 5, 37010299: 37010300
503 NIPBL NM_133433.3(NIPBL): c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528Leufs) insertion Pathogenic rs797045764 GRCh37 Chromosome 5, 37014804: 37014805
504 NIPBL NM_133433.3(NIPBL): c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528Leufs) insertion Pathogenic rs797045764 GRCh38 Chromosome 5, 37014702: 37014703
505 NIPBL NM_015384.4(NIPBL): c.4893dupA (p.Gly1632Argfs) duplication Pathogenic rs797045766 GRCh37 Chromosome 5, 37017237: 37017237
506 NIPBL NM_015384.4(NIPBL): c.4893dupA (p.Gly1632Argfs) duplication Pathogenic rs797045766 GRCh38 Chromosome 5, 37017135: 37017135
507 NIPBL NM_133433.3(NIPBL): c.4965_4972delGCTTGATT (p.Asp1657Glyfs) deletion Pathogenic rs797045767 GRCh38 Chromosome 5, 37019355: 37019362
508 NIPBL NM_133433.3(NIPBL): c.4965_4972delGCTTGATT (p.Asp1657Glyfs) deletion Pathogenic rs797045767 GRCh37 Chromosome 5, 37019457: 37019464
509 NIPBL NM_015384.4(NIPBL): c.4988_4991dupCTGA (p.Glu1664Aspfs) duplication Pathogenic rs797045768 GRCh37 Chromosome 5, 37019480: 37019483
510 NIPBL NM_015384.4(NIPBL): c.4988_4991dupCTGA (p.Glu1664Aspfs) duplication Pathogenic rs797045768 GRCh38 Chromosome 5, 37019378: 37019381
511 NIPBL NM_133433.3(NIPBL): c.5044C> T (p.Arg1682Ter) single nucleotide variant Pathogenic rs797045769 GRCh37 Chromosome 5, 37020594: 37020594
512 NIPBL NM_133433.3(NIPBL): c.5044C> T (p.Arg1682Ter) single nucleotide variant Pathogenic rs797045769 GRCh38 Chromosome 5, 37020492: 37020492
513 NIPBL NM_133433.3(NIPBL): c.5046_5047insTG (p.Asp1683Trpfs) insertion Pathogenic rs797045770 GRCh38 Chromosome 5, 37020494: 37020495
514 NIPBL NM_133433.3(NIPBL): c.5046_5047insTG (p.Asp1683Trpfs) insertion Pathogenic rs797045770 GRCh37 Chromosome 5, 37020596: 37020597
515 NIPBL NM_133433.3(NIPBL): c.5580dupT (p.Gly1861Trpfs) duplication Pathogenic rs797045771 GRCh38 Chromosome 5, 37024590: 37024590
516 NIPBL NM_133433.3(NIPBL): c.5580dupT (p.Gly1861Trpfs) duplication Pathogenic rs797045771 GRCh37 Chromosome 5, 37024692: 37024692
517 NIPBL NM_133433.3(NIPBL): c.5679_5680insT (p.Arg1894Serfs) duplication Pathogenic rs797045772 GRCh38 Chromosome 5, 37024689: 37024689
518 NIPBL NM_133433.3(NIPBL): c.5679_5680insT (p.Arg1894Serfs) duplication Pathogenic rs797045772 GRCh37 Chromosome 5, 37024791: 37024791
519 NIPBL NM_015384.4(NIPBL): c.5739_5740delCT (p.Trp1914Valfs) deletion Pathogenic rs797045773 GRCh38 Chromosome 5, 37026258: 37026259
520 NIPBL NM_015384.4(NIPBL): c.5739_5740delCT (p.Trp1914Valfs) deletion Pathogenic rs797045773 GRCh37 Chromosome 5, 37026360: 37026361
521 NIPBL NM_133433.3(NIPBL): c.6108+2T> C single nucleotide variant Pathogenic rs797045775 GRCh38 Chromosome 5, 37038740: 37038740
522 NIPBL NM_133433.3(NIPBL): c.6108+2T> C single nucleotide variant Pathogenic rs797045775 GRCh37 Chromosome 5, 37038842: 37038842
523 NIPBL NM_133433.3(NIPBL): c.6249+2dup duplication Pathogenic rs797045776 GRCh38 Chromosome 5, 37044489: 37044489
524 NIPBL NM_133433.3(NIPBL): c.6249+2dup duplication Pathogenic rs797045776 GRCh37 Chromosome 5, 37044591: 37044591
525 NIPBL NM_015384.4(NIPBL): c.6707dupA (p.Asn2236Lysfs) duplication Pathogenic rs797045778 GRCh38 Chromosome 5, 37048619: 37048619
526 NIPBL NM_015384.4(NIPBL): c.6707dupA (p.Asn2236Lysfs) duplication Pathogenic rs797045778 GRCh37 Chromosome 5, 37048721: 37048721
527 NIPBL NM_133433.3(NIPBL): c.6800T> G (p.Met2267Arg) single nucleotide variant Likely pathogenic rs797045779 GRCh38 Chromosome 5, 37049147: 37049147
528 NIPBL NM_133433.3(NIPBL): c.6800T> G (p.Met2267Arg) single nucleotide variant Likely pathogenic rs797045779 GRCh37 Chromosome 5, 37049249: 37049249
529 NIPBL NM_015384.4(NIPBL): c.6811dupT (p.Ser2271Phefs) duplication Pathogenic rs797045780 GRCh38 Chromosome 5, 37049158: 37049158
530 NIPBL NM_015384.4(NIPBL): c.6811dupT (p.Ser2271Phefs) duplication Pathogenic rs797045780 GRCh37 Chromosome 5, 37049260: 37049260
531 NIPBL NM_015384.4(NIPBL): c.7301_7308delATCTAGCCins13 (p.?) indel Pathogenic rs797045782 GRCh38 Chromosome 5, 37057223: 37057230
532 NIPBL NM_015384.4(NIPBL): c.7301_7308delATCTAGCCins13 (p.?) indel Pathogenic rs797045782 GRCh37 Chromosome 5, 37057325: 37057332
533 NIPBL NM_015384.4(NIPBL): c.7816dupA (p.Ile2606Asnfs) duplication Pathogenic rs797045783 GRCh38 Chromosome 5, 37060974: 37060974
534 NIPBL NM_015384.4(NIPBL): c.7816dupA (p.Ile2606Asnfs) duplication Pathogenic rs797045783 GRCh37 Chromosome 5, 37061076: 37061076
535 NIPBL NM_015384.4(NIPBL): c.7841_7842dupTA (p.Val2615Terfs) duplication Pathogenic rs797045784 GRCh38 Chromosome 5, 37060999: 37061000
536 NIPBL NM_015384.4(NIPBL): c.7841_7842dupTA (p.Val2615Terfs) duplication Pathogenic rs797045784 GRCh37 Chromosome 5, 37061101: 37061102
537 NIPBL NM_133433.3(NIPBL): c.7912_7913insG (p.Glu2638Glyfs) duplication Pathogenic rs797045785 GRCh38 Chromosome 5, 37063841: 37063841
538 NIPBL NM_133433.3(NIPBL): c.7912_7913insG (p.Glu2638Glyfs) duplication Pathogenic rs797045785 GRCh37 Chromosome 5, 37063943: 37063943
539 NIPBL NM_015384.4(NIPBL): c.7913dupA (p.Val2639Glyfs) duplication Pathogenic rs797045786 GRCh38 Chromosome 5, 37063842: 37063842
540 NIPBL NM_015384.4(NIPBL): c.7913dupA (p.Val2639Glyfs) duplication Pathogenic rs797045786 GRCh37 Chromosome 5, 37063944: 37063944
541 NIPBL NM_133433.3(NIPBL): c.8275_8276dupCT (p.Val2760Trpfs) duplication Pathogenic rs797045787 GRCh38 Chromosome 5, 37064752: 37064753
542 NIPBL NM_133433.3(NIPBL): c.8275_8276dupCT (p.Val2760Trpfs) duplication Pathogenic rs797045787 GRCh37 Chromosome 5, 37064854: 37064855
543 NIPBL NM_133433.3(NIPBL): c.8296_8300delATTAAinsTT (p.Ile2766_Lys2767delinsLeu) indel Likely pathogenic rs797045788 GRCh37 Chromosome 5, 37064875: 37064879
544 NIPBL NM_133433.3(NIPBL): c.8296_8300delATTAAinsTT (p.Ile2766_Lys2767delinsLeu) indel Likely pathogenic rs797045788 GRCh38 Chromosome 5, 37064773: 37064777
545 NIPBL NM_133433.3(NIPBL): c.8342_8348delCTAATAAinsATT (p.Ala2781Aspfs) indel Pathogenic rs797045789 GRCh37 Chromosome 5, 37064921: 37064927
546 NIPBL NM_133433.3(NIPBL): c.8342_8348delCTAATAAinsATT (p.Ala2781Aspfs) indel Pathogenic rs797045789 GRCh38 Chromosome 5, 37064819: 37064825
547 NIPBL NM_133433.3(NIPBL): c.7175G> A (p.Cys2392Tyr) single nucleotide variant Likely pathogenic rs886042231 GRCh37 Chromosome 5, 37052580: 37052580
548 NIPBL NM_133433.3(NIPBL): c.7175G> A (p.Cys2392Tyr) single nucleotide variant Likely pathogenic rs886042231 GRCh38 Chromosome 5, 37052478: 37052478
549 NIPBL NM_133433.3(NIPBL): c.3855+2T> C single nucleotide variant Pathogenic rs886043046 GRCh37 Chromosome 5, 37003451: 37003451
550 NIPBL NM_133433.3(NIPBL): c.3855+2T> C single nucleotide variant Pathogenic rs886043046 GRCh38 Chromosome 5, 37003349: 37003349
551 NIPBL NM_133433.3(NIPBL): c.592delC (p.His198Ilefs) deletion Pathogenic rs886043629 GRCh37 Chromosome 5, 36962358: 36962358
552 NIPBL NM_133433.3(NIPBL): c.592delC (p.His198Ilefs) deletion Pathogenic rs886043629 GRCh38 Chromosome 5, 36962256: 36962256
553 NIPBL NM_015384.4(NIPBL): c.6082C> T (p.Gln2028Ter) single nucleotide variant Pathogenic rs886044351 GRCh37 Chromosome 5, 37038814: 37038814
554 NIPBL NM_015384.4(NIPBL): c.6082C> T (p.Gln2028Ter) single nucleotide variant Pathogenic rs886044351 GRCh38 Chromosome 5, 37038712: 37038712
555 NIPBL NM_015384.4(NIPBL): c.7150C> T (p.Gln2384Ter) single nucleotide variant Pathogenic rs1057516034 GRCh37 Chromosome 5, 37052555: 37052555
556 NIPBL NM_015384.4(NIPBL): c.7150C> T (p.Gln2384Ter) single nucleotide variant Pathogenic rs1057516034 GRCh38 Chromosome 5, 37052453: 37052453
557 NIPBL NM_133433.3(NIPBL): c.2464_2467delCAAA (p.Gln822Asnfs) deletion Pathogenic GRCh38 Chromosome 5, 36985644: 36985647
558 NIPBL NM_133433.3(NIPBL): c.2464_2467delCAAA (p.Gln822Asnfs) deletion Pathogenic GRCh37 Chromosome 5, 36985746: 36985749
559 NIPBL NM_133433.3(NIPBL): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 36986287: 36986287
560 NIPBL NM_133433.3(NIPBL): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 36986389: 36986389
561 NIPBL NM_133433.3(NIPBL): c.3137C> A (p.Ser1046Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 36995637: 36995637
562 NIPBL NM_133433.3(NIPBL): c.3137C> A (p.Ser1046Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 36995739: 36995739
563 NIPBL NM_133433.3(NIPBL): c.3698T> G (p.Leu1233Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 37002797: 37002797
564 NIPBL NM_133433.3(NIPBL): c.3698T> G (p.Leu1233Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 37002695: 37002695
565 NIPBL NM_133433.3(NIPBL): c.6264_6267delTGTG (p.Cys2088Terfs) deletion Pathogenic GRCh38 Chromosome 5, 37044650: 37044653
566 NIPBL NM_133433.3(NIPBL): c.6264_6267delTGTG (p.Cys2088Terfs) deletion Pathogenic GRCh37 Chromosome 5, 37044752: 37044755
567 NIPBL NM_133433.3(NIPBL): c.6401_6404dup (p.Pro2138Glnfs) duplication Pathogenic GRCh38 Chromosome 5, 37045500: 37045503
568 NIPBL NM_133433.3(NIPBL): c.6401_6404dup (p.Pro2138Glnfs) duplication Pathogenic GRCh37 Chromosome 5, 37045602: 37045605
569 NIPBL NM_133433.3(NIPBL): c.6635T> A (p.Val2212Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 37048547: 37048547
570 NIPBL NM_133433.3(NIPBL): c.6635T> A (p.Val2212Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 37048649: 37048649
571 NIPBL NM_133433.3(NIPBL): c.868G> A (p.Gly290Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 36972143: 36972143
572 NIPBL NM_133433.3(NIPBL): c.868G> A (p.Gly290Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 36972041: 36972041
573 NIPBL NC_000005.10: g.(?_37045443)_(37048675_?)del deletion Likely pathogenic GRCh38 Chromosome 5, 37045443: 37048675
574 NIPBL NC_000005.10: g.(?_37038582)_(37038758_?)del deletion Pathogenic GRCh38 Chromosome 5, 37038582: 37038758
575 NIPBL NM_133433.3(NIPBL): c.169delA (p.Arg57Glyfs) deletion Pathogenic GRCh37 Chromosome 5, 36955678: 36955678
576 NIPBL NM_133433.3(NIPBL): c.169delA (p.Arg57Glyfs) deletion Pathogenic GRCh38 Chromosome 5, 36955576: 36955576
577 NIPBL NM_133433.3(NIPBL): c.3248delC (p.Pro1083Glnfs) deletion Pathogenic GRCh37 Chromosome 5, 36995850: 36995850
578 NIPBL NM_133433.3(NIPBL): c.3248delC (p.Pro1083Glnfs) deletion Pathogenic GRCh38 Chromosome 5, 36995748: 36995748
579 NIPBL NM_133433.3(NIPBL): c.6038G> A (p.Ser2013Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 37038770: 37038770
580 NIPBL NM_133433.3(NIPBL): c.6038G> A (p.Ser2013Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 37038668: 37038668
581 NIPBL NM_133433.3(NIPBL): c.7832A> G (p.Lys2611Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 37061092: 37061092
582 NIPBL NM_133433.3(NIPBL): c.7832A> G (p.Lys2611Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 37060990: 37060990
583 NIPBL NM_133433.3(NIPBL): c.1247C> G (p.Ala416Gly) single nucleotide variant Uncertain significance rs894352601 GRCh37 Chromosome 5, 36976256: 36976256
584 NIPBL NM_133433.3(NIPBL): c.1247C> G (p.Ala416Gly) single nucleotide variant Uncertain significance rs894352601 GRCh38 Chromosome 5, 36976154: 36976154
585 NIPBL NM_015384.4(NIPBL): c.2595dup (p.Leu866Thrfs) duplication Pathogenic GRCh37 Chromosome 5, 36985877: 36985877
586 NIPBL NM_015384.4(NIPBL): c.2595dup (p.Leu866Thrfs) duplication Pathogenic GRCh38 Chromosome 5, 36985775: 36985775
587 NIPBL NM_133433.3(NIPBL): c.4203A> G (p.Leu1401=) single nucleotide variant Likely benign GRCh37 Chromosome 5, 37007540: 37007540
588 NIPBL NM_133433.3(NIPBL): c.4203A> G (p.Leu1401=) single nucleotide variant Likely benign GRCh38 Chromosome 5, 37007438: 37007438
589 NIPBL NM_133433.3(NIPBL): c.5374G> C (p.Ala1792Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 37022198: 37022198
590 NIPBL NM_133433.3(NIPBL): c.5374G> C (p.Ala1792Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 37022096: 37022096
591 NIPBL NM_133433.3(NIPBL): c.6086_6087insT (p.Tyr2030Ilefs) insertion Pathogenic GRCh37 Chromosome 5, 37038818: 37038819
592 NIPBL NM_133433.3(NIPBL): c.6086_6087insT (p.Tyr2030Ilefs) insertion Pathogenic GRCh38 Chromosome 5, 37038716: 37038717
593 NIPBL NM_133433.3(NIPBL): c.6589+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 37046306: 37046306
594 NIPBL NM_133433.3(NIPBL): c.6589+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 37046204: 37046204
595 NIPBL NM_133433.3(NIPBL): c.7263+3A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 37052671: 37052671
596 NIPBL NM_133433.3(NIPBL): c.7263+3A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 37052569: 37052569
597 NIPBL NM_133433.3(NIPBL): c.3148G> T (p.Glu1050Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 36995648: 36995648
598 NIPBL NM_133433.3(NIPBL): c.3148G> T (p.Glu1050Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 36995750: 36995750
599 NIPBL NM_133433.3(NIPBL): c.3493C> T (p.Leu1165Phe) single nucleotide variant Uncertain significance rs540365485 GRCh38 Chromosome 5, 37000561: 37000561
600 NIPBL NM_133433.3(NIPBL): c.3493C> T (p.Leu1165Phe) single nucleotide variant Uncertain significance rs540365485 GRCh37 Chromosome 5, 37000663: 37000663
601 NIPBL NM_133433.3(NIPBL): c.4245A> C (p.Ser1415=) single nucleotide variant Benign rs138440449 GRCh38 Chromosome 5, 37008013: 37008013
602 NIPBL NM_133433.3(NIPBL): c.4245A> C (p.Ser1415=) single nucleotide variant Benign rs138440449 GRCh37 Chromosome 5, 37008115: 37008115
603 NIPBL NM_133433.3(NIPBL): c.1145delA (p.Asn382Ilefs) deletion Pathogenic GRCh38 Chromosome 5, 36976052: 36976052
604 NIPBL NM_133433.3(NIPBL): c.1145delA (p.Asn382Ilefs) deletion Pathogenic GRCh37 Chromosome 5, 36976154: 36976154
605 NIPBL NM_133433.3(NIPBL): c.4686delT (p.Phe1562Leufs) deletion Pathogenic GRCh37 Chromosome 5, 37016182: 37016182
606 NIPBL NM_133433.3(NIPBL): c.4686delT (p.Phe1562Leufs) deletion Pathogenic GRCh38 Chromosome 5, 37016080: 37016080
607 NIPBL NM_133433.3(NIPBL): c.4760_4763delTGTT (p.Leu1587Terfs) deletion Pathogenic GRCh37 Chromosome 5, 37016256: 37016259
608 NIPBL NM_133433.3(NIPBL): c.4760_4763delTGTT (p.Leu1587Terfs) deletion Pathogenic GRCh38 Chromosome 5, 37016154: 37016157
609 NIPBL NC_000005.10: g.(?_37044327)_(37049321_?)del deletion Pathogenic GRCh37 Chromosome 5, 37044429: 37049423
610 NIPBL NC_000005.10: g.(?_37044327)_(37049321_?)del deletion Pathogenic GRCh38 Chromosome 5, 37044327: 37049321
611 NIPBL NM_133433.3(NIPBL): c.64+6T> A single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 36953766: 36953766
612 NIPBL NM_133433.3(NIPBL): c.64+6T> A single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 36953868: 36953868
613 NIPBL NM_133433.3(NIPBL): c.1583C> T (p.Thr528Met) single nucleotide variant Uncertain significance rs574981584 GRCh37 Chromosome 5, 36984865: 36984865
614 NIPBL NM_133433.3(NIPBL): c.1583C> T (p.Thr528Met) single nucleotide variant Uncertain significance rs574981584 GRCh38 Chromosome 5, 36984763: 36984763
615 NIPBL NM_133433.3(NIPBL): c.3304+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 36995805: 36995805
616 NIPBL NM_133433.3(NIPBL): c.3304+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 36995907: 36995907
617 NIPBL NM_133433.3(NIPBL): c.6033A> T (p.Leu2011Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 37038663: 37038663
618 NIPBL NM_133433.3(NIPBL): c.6033A> T (p.Leu2011Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 37038765: 37038765
619 NIPBL NM_133433.3(NIPBL): c.6796G> T (p.Glu2266Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 37049143: 37049143
620 NIPBL NM_133433.3(NIPBL): c.6796G> T (p.Glu2266Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 37049245: 37049245
621 NIPBL NM_015384.4(NIPBL): c.1956dup (p.Gln653Thrfs) duplication Pathogenic GRCh37 Chromosome 5, 36985238: 36985238
622 NIPBL NM_015384.4(NIPBL): c.1956dup (p.Gln653Thrfs) duplication Pathogenic GRCh38 Chromosome 5, 36985136: 36985136
623 NIPBL NM_133433.3(NIPBL): c.7702delT (p.Ser2568Leufs) deletion Pathogenic GRCh37 Chromosome 5, 37060962: 37060962
624 NIPBL NM_133433.3(NIPBL): c.7702delT (p.Ser2568Leufs) deletion Pathogenic GRCh38 Chromosome 5, 37060860: 37060860

Expression for Cornelia De Lange Syndrome 1

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 1.

Pathways for Cornelia De Lange Syndrome 1

Pathways related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.04 NIPBL RAD21

GO Terms for Cornelia De Lange Syndrome 1

Cellular components related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.16 NIPBL RAD21
2 nuclear chromosome GO:0000228 8.96 HDAC8 NIPBL
3 MLL1 complex GO:0071339 8.62 KMT2A TAF6

Biological processes related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 sister chromatid cohesion GO:0007062 9.26 HDAC8 RAD21
2 double-strand break repair GO:0006302 9.16 NIPBL RAD21
3 chromatin organization GO:0006325 9.13 HDAC8 KMT2A TAF6
4 cognition GO:0050890 8.62 KMT2A NIPBL

Molecular functions related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.92 HDAC8 KMT2A NIPBL RAD21

Sources for Cornelia De Lange Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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