MCID: CRN139
MIFTS: 42

Cornelia De Lange Syndrome 1

Categories: Genetic 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 54 71 29 13
Amstelodamensis Typus Degenerativus 71
Cdls1 71

Characteristics:

OMIM:

54
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 : 54
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 amstelodamensis typus degenerativus, is related to nipbl-related cornelia de lange syndrome and cornelia de lange syndrome 2, and has symptoms including short stature, long eyelashes and optic atrophy. An important gene associated with Cornelia De Lange Syndrome 1 is NIPBL (NIPBL, Cohesin Loading Factor). The drugs Propranolol and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and heart.

UniProtKB/Swiss-Prot : 71 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

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:

54

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

Neurologic- Central Nervous System:
mental retardation
language delay
hypertonicity

Head And Neck- Eyes:
myopia
ptosis
synophrys
long curly eyelashes

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

Abdomen- Gastroin testinal:
gastroesophageal reflux
pyloric stenosis

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

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

Neurologic- Behavioral Psychiatric Manifestations:
self-injurious behavior

Cardiovascular- Heart:
congenital heart defect

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

Genitourinary- External Genitalia Male:
hypoplastic male genitalia

Skeletal- Feet:
syndactyly of toes 2 and 3

Head And Neck- Nose:
anteverted nostrils
depressed nasal bridge

Skin Nails & Hair- Hair:
hirsutism
low posterior hair line

Head And Neck- Head:
microcephaly
brachycephaly

Head And Neck- Face:
micrognathia
long philtrum

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Neck:
short neck

Skin Nails & Hair- Skin:
cutis marmorata
single transverse palmar crease

Respiratory- Lung:
pneumonia
congenital diaphragmatic hernia

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

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

Drugs & Therapeutics for Cornelia De Lange Syndrome 1

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

(showing 34, show less)
id 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
3 Adrenergic Antagonists Phase 2, Phase 3
4 Adrenergic beta-Antagonists Phase 2, Phase 3
5 Anti-Arrhythmia Agents Phase 2, Phase 3
6 Antihypertensive Agents Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Vasodilator Agents Phase 2, Phase 3
9 Cola Nutraceutical Phase 3
10
Ciprofloxacin Approved, Investigational 85721-33-1 2764
11
Amiodarone Approved, Investigational 1951-25-3 2157
12
Digoxin Approved 20830-75-5 30322 2724385
13
Metoprolol Approved, Investigational 37350-58-6, 51384-51-1 4171
14
Verapamil Approved 52-53-9 2520
15 Anti-Bacterial Agents
16 Anti-Infective Agents
17 Cystatins
18 Cytochrome P-450 CYP1A2 Inhibitors
19 Cytochrome P-450 Enzyme Inhibitors
20 Topoisomerase Inhibitors
21 Adrenergic beta-1 Receptor Antagonists
22 Autonomic Agents
23 calcium channel blockers
24 Calcium, Dietary
25 Cytochrome P-450 CYP2C9 Inhibitors
26 Cytochrome P-450 CYP2D6 Inhibitors
27 Cytochrome P-450 CYP3A Inhibitors
28 Diuretics, Potassium Sparing
29 Peripheral Nervous System Agents
30 Potassium Channel Blockers
31 Protective Agents
32 Sodium Channel Blockers
33 Sympatholytics
34 leucine Nutraceutical

Interventional clinical trials:

(showing 11, show less)

id Name Status NCT ID Phase Drugs
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Recruiting NCT02724865 Phase 4
2 The Effects of Propranolol on Fear of Tooth or Molar Extraction Recruiting NCT02268357 Phase 2, Phase 3 Propranolol
3 Pilot Study of a National Screening Programme for Bowel Cancer in Norway Enrolling by invitation NCT01538550 Phase 3
4 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069
5 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277
6 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
7 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Recruiting NCT03113877
8 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
9 Pharmacokinetics of Ciprofloxacin in Critically Ill Patients Recruiting NCT03016845
10 Benefit of Dual-chamber Pacing With Closed Loop Stimulation (CLS) in Tilt-induced Cardioinhibitory Reflex Syncope Recruiting NCT02324920
11 Acute Cardioversion Versus Wait And See-approach for Symptomatic Atrial Fibrillation in the Emergency Department Recruiting NCT02248753 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:

id Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome 1 29

Anatomical Context for Cornelia De Lange Syndrome 1

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

39
Kidney, Colon, Heart

Publications for Cornelia De Lange Syndrome 1

Articles related to Cornelia De Lange Syndrome 1:

(showing 1, show less)
id 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:

71 (showing 38, show less)
id 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
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 247, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 NIPBL NIPBL, 1-BP INS, 1546G insertion Pathogenic
2 NIPBL NM_015384.4(NIPBL): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121918264 GRCh37 Chromosome 5, 36953800: 36953800
3 NIPBL NM_015384.4(NIPBL): c.7289A> G (p.Tyr2430Cys) single nucleotide variant Pathogenic rs121918265 GRCh37 Chromosome 5, 37057313: 37057313
4 NIPBL NIPBL, 1-BP DEL, 150G deletion Pathogenic
5 NIPBL NIPBL, 1-BP INS, 7306G insertion Pathogenic
6 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh37 Chromosome 5, 37001132: 37001134
7 NIPBL NIPBL, 2-BP DEL, 2479AG deletion Pathogenic
8 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh37 Chromosome 5, 37020717: 37020717
9 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh37 Chromosome 5, 37002836: 37002836
10 NIPBL NIPBL, IVS45AS, G-C, -1 single nucleotide variant Pathogenic
11 NIPBL NIPBL, IVS44DS, A-G, +4 single nucleotide variant Pathogenic
12 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh37 Chromosome 5, 37014830: 37014830
13 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh37 Chromosome 5, 36877039: 36877040
14 NIPBL NM_133433.3(NIPBL): c.2479_2480delAG (p.Arg827Glyfs) deletion Pathogenic rs398124465 GRCh37 Chromosome 5, 36985761: 36985762
15 NIPBL NM_133433.3(NIPBL): c.2602C> T (p.Arg868Ter) single nucleotide variant Pathogenic rs398124466 GRCh37 Chromosome 5, 36985884: 36985884
16 NIPBL NM_015384.4(NIPBL): c.2626dupG (p.Asp876Glyfs) duplication Pathogenic rs398124467 GRCh37 Chromosome 5, 36985908: 36985908
17 NIPBL NM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter) single nucleotide variant Pathogenic rs80358362 GRCh37 Chromosome 5, 37022358: 37022358
18 NIPBL NM_015384.4(NIPBL): c.7047T> G (p.Tyr2349Ter) single nucleotide variant Pathogenic rs398124470 GRCh37 Chromosome 5, 37051973: 37051973
19 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh37 Chromosome 5, 37052624: 37052624
20 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh37 Chromosome 5, 37064956: 37064956
21 NIPBL NM_133433.3(NIPBL): c.133C> T (p.Arg45Ter) single nucleotide variant Pathogenic rs80358367 GRCh37 Chromosome 5, 36955642: 36955642
22 NIPBL NM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs) deletion Pathogenic rs80358382 GRCh37 Chromosome 5, 36976454: 36976457
23 NIPBL NM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs) deletion Pathogenic rs80358364 GRCh37 Chromosome 5, 36955701: 36955701
24 NIPBL NM_133433.3(NIPBL): c.3445C> T (p.Arg1149Ter) single nucleotide variant Pathogenic rs80358374 GRCh37 Chromosome 5, 37000615: 37000615
25 NIPBL NM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) deletion Pathogenic rs80358386 GRCh37 Chromosome 5, 37008155: 37008164
26 NIPBL NM_133433.3(NIPBL): c.4511T> A (p.Leu1504Ter) single nucleotide variant Pathogenic rs80358369 GRCh37 Chromosome 5, 37010278: 37010278
27 NIPBL NM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs) deletion Pathogenic rs80358372 GRCh37 Chromosome 5, 37017150: 37017151
28 NIPBL NM_133433.3(NIPBL): c.5366G> A (p.Arg1789Gln) single nucleotide variant Likely pathogenic rs80358380 GRCh37 Chromosome 5, 37022190: 37022190
29 NIPBL NM_133433.3(NIPBL): c.5456G> A (p.Arg1819Gln) single nucleotide variant Likely pathogenic rs80358366 GRCh37 Chromosome 5, 37022374: 37022374
30 NIPBL NM_133433.3(NIPBL): c.5566A> G (p.Arg1856Gly) single nucleotide variant Likely pathogenic rs80358373 GRCh37 Chromosome 5, 37022484: 37022484
31 NIPBL NM_133433.3(NIPBL): c.585C> G (p.Tyr195Ter) single nucleotide variant Pathogenic rs80358360 GRCh37 Chromosome 5, 36962351: 36962351
32 NIPBL NM_133433.3(NIPBL): c.6631G> T (p.Glu2211Ter) single nucleotide variant Pathogenic rs80358363 GRCh37 Chromosome 5, 37048645: 37048645
33 NIPBL NM_015384.4(NIPBL): c.6641_6647delATCTATA (p.Asn2214Ilefs) deletion Pathogenic rs80358361 GRCh37 Chromosome 5, 37048655: 37048661
34 NIPBL NM_133433.3(NIPBL): c.6892C> G (p.Arg2298Gly) single nucleotide variant Pathogenic rs80358376 GRCh37 Chromosome 5, 37049341: 37049341
35 NIPBL NM_133433.3(NIPBL): c.7301A> G (p.Asn2434Ser) single nucleotide variant Likely pathogenic rs80358384 GRCh37 Chromosome 5, 37057325: 37057325
36 NIPBL NM_133433.3(NIPBL): c.7327C> T (p.Gln2443Ter) single nucleotide variant Pathogenic rs80358370 GRCh37 Chromosome 5, 37057351: 37057351
37 NIPBL NM_133433.3(NIPBL): c.7789delC (p.Leu2597Cysfs) deletion Pathogenic rs80358368 GRCh37 Chromosome 5, 37061049: 37061049
38 NIPBL NM_133433.3(NIPBL): c.7806_7807insT (p.Asn2603Terfs) insertion Pathogenic rs80358371 GRCh37 Chromosome 5, 37061066: 37061066
39 NIPBL NM_133433.3(NIPBL): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs587783937 GRCh37 Chromosome 5, 36953801: 36953801
40 NIPBL NM_133433.3(NIPBL): c.64+1G> A single nucleotide variant Pathogenic rs587784009 GRCh37 Chromosome 5, 36953863: 36953863
41 NIPBL NM_133433.3(NIPBL): c.64+3A> C single nucleotide variant Pathogenic rs587784010 GRCh37 Chromosome 5, 36953865: 36953865
42 NIPBL NM_133433.3(NIPBL): c.64+5G> A single nucleotide variant Likely pathogenic rs587784011 GRCh37 Chromosome 5, 36953867: 36953867
43 NIPBL NM_133433.3(NIPBL): c.65-5A> G single nucleotide variant Likely pathogenic rs587784012 GRCh37 Chromosome 5, 36955569: 36955569
44 NIPBL NM_015384.4(NIPBL): c.86delC (p.Pro29Hisfs) deletion Pathogenic rs587784060 GRCh37 Chromosome 5, 36955595: 36955595
45 NIPBL NM_133433.3(NIPBL): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs587783886 GRCh38 Chromosome 5, 36955552: 36955552
46 NIPBL NM_015384.4(NIPBL): c.201_212delTAGCCTCAACCA (p.His67_Asn70del) deletion Likely pathogenic rs587783893 GRCh38 Chromosome 5, 36955608: 36955619
47 NIPBL NM_133433.3(NIPBL): c.206T> C (p.Leu69Pro) single nucleotide variant Likely pathogenic rs587783895 GRCh38 Chromosome 5, 36955613: 36955613
48 NIPBL NM_015384.4(NIPBL): c.310_317delCCTAATGT (p.Pro104Phefs) deletion Pathogenic rs587783917 GRCh38 Chromosome 5, 36958183: 36958190
49 NIPBL NM_133433.3(NIPBL): c.345A> G (p.Arg115=) single nucleotide variant Likely pathogenic rs587783922 GRCh37 Chromosome 5, 36958320: 36958320
50 NIPBL NM_133433.3(NIPBL): c.358+1G> T single nucleotide variant Pathogenic rs587783927 GRCh37 Chromosome 5, 36958334: 36958334
51 NIPBL NM_133433.3(NIPBL): c.358+5G> C single nucleotide variant Likely pathogenic rs587783928 GRCh37 Chromosome 5, 36958338: 36958338
52 NIPBL NM_015384.4(NIPBL): c.456delC (p.Ser153Alafs) deletion Pathogenic rs587783951 GRCh37 Chromosome 5, 36961683: 36961683
53 NIPBL NM_133433.3(NIPBL): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783988 GRCh37 Chromosome 5, 36962364: 36962364
54 NIPBL NM_133433.3(NIPBL): c.610+1G> A single nucleotide variant Pathogenic rs587783993 GRCh37 Chromosome 5, 36962377: 36962377
55 NIPBL NM_133433.3(NIPBL): c.737A> G (p.Asp246Gly) single nucleotide variant Pathogenic rs587784042 GRCh37 Chromosome 5, 36971104: 36971104
56 NIPBL NM_133433.3(NIPBL): c.771+1G> A single nucleotide variant Pathogenic rs587784048 GRCh37 Chromosome 5, 36971139: 36971139
57 NIPBL NM_133433.3(NIPBL): c.772-1G> A single nucleotide variant Pathogenic rs587784049 GRCh37 Chromosome 5, 36972046: 36972046
58 NIPBL NM_133433.3(NIPBL): c.869-1G> A single nucleotide variant Pathogenic rs587784059 GRCh37 Chromosome 5, 36975877: 36975877
59 NIPBL NM_133433.3(NIPBL): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs587784062 GRCh37 Chromosome 5, 36975901: 36975901
60 NIPBL NM_015384.4(NIPBL): c.892delC (p.Gln298Asnfs) deletion Pathogenic rs587784063 GRCh37 Chromosome 5, 36975901: 36975901
61 NIPBL NM_133433.3(NIPBL): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs587784065 GRCh37 Chromosome 5, 36975931: 36975931
62 NIPBL NM_015384.4(NIPBL): c.1003delG (p.Glu335Lysfs) deletion Pathogenic rs587783877 GRCh38 Chromosome 5, 36975910: 36975910
63 NIPBL NM_015384.4(NIPBL): c.1033_1036delTATG (p.Tyr345Ilefs) deletion Pathogenic rs587783878 GRCh38 Chromosome 5, 36975940: 36975943
64 NIPBL NM_133433.3(NIPBL): c.1057A> T (p.Lys353Ter) single nucleotide variant Pathogenic rs587783879 GRCh38 Chromosome 5, 36975964: 36975964
65 NIPBL NM_015384.4(NIPBL): c.1086_1087delTT (p.Arg364Cysfs) deletion Pathogenic rs587783880 GRCh37 Chromosome 5, 36976095: 36976096
66 NIPBL NM_133433.3(NIPBL): c.1183C> T (p.Gln395Ter) single nucleotide variant Pathogenic rs587783882 GRCh38 Chromosome 5, 36976090: 36976090
67 NIPBL NM_133433.3(NIPBL): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs587783883 GRCh38 Chromosome 5, 36976204: 36976204
68 NIPBL NM_133433.3(NIPBL): c.1372C> T (p.Gln458Ter) single nucleotide variant Pathogenic rs587783884 GRCh38 Chromosome 5, 36976279: 36976279
69 NIPBL NM_015384.4(NIPBL): c.1447_1448delGA (p.Glu483Ilefs) deletion Pathogenic rs587783885 GRCh38 Chromosome 5, 36976354: 36976355
70 NIPBL NM_133433.3(NIPBL): c.1477A> G (p.Lys493Glu) single nucleotide variant Likely pathogenic rs587783887 GRCh38 Chromosome 5, 36976384: 36976384
71 NIPBL NM_015384.4(NIPBL): c.1514_1517delGAAA (p.Arg505Asnfs) deletion Pathogenic rs587783888 GRCh38 Chromosome 5, 36984694: 36984697
72 NIPBL NM_133433.3(NIPBL): c.1576C> T (p.Gln526Ter) single nucleotide variant Pathogenic rs587783889 GRCh38 Chromosome 5, 36984756: 36984756
73 NIPBL NM_015384.4(NIPBL): c.1753delA (p.Ile585Leufs) deletion Pathogenic rs587783891 GRCh38 Chromosome 5, 36984933: 36984933
74 NIPBL NM_133433.3(NIPBL): c.1885C> T (p.Arg629Ter) single nucleotide variant Pathogenic rs587783892 GRCh38 Chromosome 5, 36985065: 36985065
75 NIPBL NM_015384.4(NIPBL): c.2046delA (p.Lys682Asnfs) deletion Pathogenic rs587783894 GRCh38 Chromosome 5, 36985226: 36985226
76 NIPBL NM_133433.3(NIPBL): c.2093C> G (p.Ser698Ter) single nucleotide variant Pathogenic rs587783896 GRCh38 Chromosome 5, 36985273: 36985273
77 NIPBL NM_015384.4(NIPBL): c.2107_2108delCC (p.Pro703Lysfs) deletion Pathogenic rs587783897 GRCh38 Chromosome 5, 36985287: 36985288
78 NIPBL NM_015384.4(NIPBL): c.2108delC (p.Pro703Glnfs) deletion Pathogenic rs587783898 GRCh38 Chromosome 5, 36985288: 36985288
79 NIPBL NM_133433.3(NIPBL): c.2260C> T (p.Arg754Ter) single nucleotide variant Pathogenic rs587783899 GRCh38 Chromosome 5, 36985440: 36985440
80 NIPBL NM_133433.3(NIPBL): c.2389C> T (p.Arg797Ter) single nucleotide variant Pathogenic rs587783901 GRCh38 Chromosome 5, 36985569: 36985569
81 NIPBL NM_133433.3(NIPBL): c.2422C> T (p.Arg808Ter) single nucleotide variant Pathogenic rs587783902 GRCh38 Chromosome 5, 36985602: 36985602
82 NIPBL NM_133433.3(NIPBL): c.2489C> G (p.Ser830Ter) single nucleotide variant Pathogenic rs587783905 GRCh38 Chromosome 5, 36985669: 36985669
83 NIPBL NM_133433.3(NIPBL): c.2494C> T (p.Arg832Ter) single nucleotide variant Pathogenic rs587783906 GRCh38 Chromosome 5, 36985674: 36985674
84 NIPBL NM_133433.3(NIPBL): c.2500C> T (p.Arg834Ter) single nucleotide variant Pathogenic rs587783907 GRCh38 Chromosome 5, 36985680: 36985680
85 NIPBL NM_015384.4(NIPBL): c.2711delG (p.Arg904Asnfs) deletion Pathogenic rs587783909 GRCh38 Chromosome 5, 36985891: 36985891
86 NIPBL NM_015384.4(NIPBL): c.2773_2774delAA (p.Lys925Glufs) deletion Pathogenic rs587783910 GRCh38 Chromosome 5, 36985953: 36985954
87 NIPBL NM_133433.3(NIPBL): c.2832T> A (p.Tyr944Ter) single nucleotide variant Pathogenic rs587783911 GRCh38 Chromosome 5, 36986012: 36986012
88 NIPBL NM_015384.4(NIPBL): c.2903delA (p.Asn968Metfs) deletion Pathogenic rs587783912 GRCh38 Chromosome 5, 36986083: 36986083
89 NIPBL NM_133433.3(NIPBL): c.3060_3063delAGAG (p.Glu1021Thrfs) deletion Pathogenic rs587783914 GRCh38 Chromosome 5, 36986240: 36986243
90 NIPBL NM_133433.3(NIPBL): c.3122-2A> G single nucleotide variant Likely pathogenic rs587783918 GRCh38 Chromosome 5, 36995620: 36995620
91 NIPBL NM_133433.3(NIPBL): c.3304+5G> A single nucleotide variant Likely pathogenic rs80358356 GRCh38 Chromosome 5, 36995809: 36995809
92 NIPBL NM_133433.3(NIPBL): c.3305-1G> T single nucleotide variant Pathogenic rs80358375 GRCh38 Chromosome 5, 37000372: 37000372
93 NIPBL NM_133433.3(NIPBL): c.3322A> T (p.Lys1108Ter) single nucleotide variant Pathogenic rs587783919 GRCh37 Chromosome 5, 37000492: 37000492
94 NIPBL NM_133433.3(NIPBL): c.3440G> A (p.Arg1147Gln) single nucleotide variant Likely pathogenic rs587783921 GRCh37 Chromosome 5, 37000610: 37000610
95 NIPBL NM_015384.4(NIPBL): c.3461_3462delCT (p.Ser1154Terfs) deletion Pathogenic rs587783923 GRCh37 Chromosome 5, 37000631: 37000632
96 NIPBL NM_015384.4(NIPBL): c.3526_3530delGAAAA (p.Glu1176Thrfs) deletion Pathogenic rs587783925 GRCh37 Chromosome 5, 37000942: 37000946
97 NIPBL NM_133433.3(NIPBL): c.3575-3C> G single nucleotide variant Pathogenic rs587783926 GRCh37 Chromosome 5, 37001088: 37001088
98 NIPBL NM_015384.4(NIPBL): c.3788_3789delTG (p.Val1263Glufs) deletion Pathogenic rs587783930 GRCh37 Chromosome 5, 37003382: 37003383
99 NIPBL NM_015384.4(NIPBL): c.3804_3818delCTTGGAGAAGAATAT (p.Leu1269_Ile1273del) deletion Likely pathogenic rs587783931 GRCh37 Chromosome 5, 37003398: 37003412
100 NIPBL NM_133433.3(NIPBL): c.3818T> G (p.Ile1273Ser) single nucleotide variant Likely pathogenic rs587783932 GRCh37 Chromosome 5, 37003412: 37003412
101 NIPBL NM_133433.3(NIPBL): c.3855+1G> T single nucleotide variant Pathogenic rs587783933 GRCh37 Chromosome 5, 37003450: 37003450
102 NIPBL NM_133433.3(NIPBL): c.3855+5G> A single nucleotide variant Likely pathogenic rs80358378 GRCh37 Chromosome 5, 37003454: 37003454
103 NIPBL NM_015384.4(NIPBL): c.3866_3869delCTGA (p.Thr1289Lysfs) deletion Pathogenic rs587783934 GRCh37 Chromosome 5, 37006469: 37006472
104 NIPBL NM_133433.3(NIPBL): c.3874G> T (p.Glu1292Ter) single nucleotide variant Pathogenic rs587783936 GRCh37 Chromosome 5, 37006477: 37006477
105 NIPBL NM_133433.3(NIPBL): c.4017C> A (p.Tyr1339Ter) single nucleotide variant Pathogenic rs587783938 GRCh37 Chromosome 5, 37006620: 37006620
106 NIPBL NM_133433.3(NIPBL): c.4088-2A> T single nucleotide variant Pathogenic rs587783939 GRCh37 Chromosome 5, 37007423: 37007423
107 NIPBL NM_015384.4(NIPBL): c.4098_4101delAAGT (p.Leu1366Phefs) deletion Pathogenic rs587783940 GRCh37 Chromosome 5, 37007435: 37007438
108 NIPBL NM_015384.4(NIPBL): c.4143_4144delAG (p.Arg1381Serfs) deletion Pathogenic rs587783941 GRCh37 Chromosome 5, 37007480: 37007481
109 NIPBL NM_133433.3(NIPBL): c.4240-1G> C single nucleotide variant Pathogenic rs587783942 GRCh37 Chromosome 5, 37008109: 37008109
110 NIPBL NM_015384.4(NIPBL): c.4275_4287delAAATGTCAGTGAA (p.Glu1425Aspfs) deletion Pathogenic rs587783944 GRCh37 Chromosome 5, 37008145: 37008157
111 NIPBL NM_133433.3(NIPBL): c.4320+1G> A single nucleotide variant Pathogenic rs587783945 GRCh37 Chromosome 5, 37008191: 37008191
112 NIPBL NM_133433.3(NIPBL): c.4421G> C (p.Arg1474Thr) single nucleotide variant Likely pathogenic rs587783947 GRCh37 Chromosome 5, 37008825: 37008825
113 NIPBL NM_133433.3(NIPBL): c.4439T> G (p.Met1480Arg) single nucleotide variant Likely pathogenic rs587783948 GRCh37 Chromosome 5, 37010206: 37010206
114 NIPBL NM_133433.3(NIPBL): c.4543G> T (p.Glu1515Ter) single nucleotide variant Pathogenic rs587783950 GRCh37 Chromosome 5, 37010310: 37010310
115 NIPBL NM_133433.3(NIPBL): c.4593T> G (p.Tyr1531Ter) single nucleotide variant Pathogenic rs587783952 GRCh37 Chromosome 5, 37014817: 37014817
116 NIPBL NM_015384.4(NIPBL): c.4636delC (p.Lys1548Asnfs) deletion Pathogenic rs587783953 GRCh37 Chromosome 5, 37014860: 37014860
117 NIPBL NM_133433.3(NIPBL): c.4643+1G> C single nucleotide variant Pathogenic rs587783954 GRCh37 Chromosome 5, 37014868: 37014868
118 NIPBL NM_015384.4(NIPBL): c.4663delG (p.Glu1555Lysfs) deletion Pathogenic rs587783955 GRCh37 Chromosome 5, 37016159: 37016159
119 NIPBL NM_015384.4(NIPBL): c.4684_4687delTTTG (p.Phe1562Lysfs) deletion Pathogenic rs587783957 GRCh37 Chromosome 5, 37016180: 37016183
120 NIPBL NM_133433.3(NIPBL): c.4712C> A (p.Ser1571Ter) single nucleotide variant Pathogenic rs77632238 GRCh37 Chromosome 5, 37016208: 37016208
121 NIPBL NM_015384.4(NIPBL): c.4818_4819delAG (p.Arg1606Serfs) deletion Pathogenic rs587783959 GRCh37 Chromosome 5, 37017162: 37017163
122 NIPBL NM_015384.4(NIPBL): c.5033_5039delCCCAGTG (p.Ala1678Glyfs) deletion Pathogenic rs587783960 GRCh37 Chromosome 5, 37020583: 37020589
123 NIPBL NM_015384.4(NIPBL): c.5174delA (p.Lys1725Serfs) deletion Pathogenic rs587783961 GRCh37 Chromosome 5, 37020724: 37020724
124 NIPBL NM_133433.3(NIPBL): c.5327A> T (p.Gln1776Leu) single nucleotide variant Likely pathogenic rs587783966 GRCh37 Chromosome 5, 37020978: 37020978
125 NIPBL NM_133433.3(NIPBL): c.5328+1G> A single nucleotide variant Pathogenic rs587783967 GRCh37 Chromosome 5, 37020980: 37020980
126 NIPBL NM_133433.3(NIPBL): c.5329-1G> C single nucleotide variant Pathogenic rs587783969 GRCh37 Chromosome 5, 37022152: 37022152
127 NIPBL NM_133433.3(NIPBL): c.5335C> T (p.Arg1779Ter) single nucleotide variant Pathogenic rs587783971 GRCh37 Chromosome 5, 37022159: 37022159
128 NIPBL NM_133433.3(NIPBL): c.5365C> T (p.Arg1789Ter) single nucleotide variant Pathogenic rs587783972 GRCh37 Chromosome 5, 37022189: 37022189
129 NIPBL NM_015384.4(NIPBL): c.5389_5392delTCTG (p.Ser1797Argfs) deletion Pathogenic rs587783973 GRCh37 Chromosome 5, 37022213: 37022216
130 NIPBL NM_133433.3(NIPBL): c.5428-2A> G single nucleotide variant Pathogenic rs587783974 GRCh37 Chromosome 5, 37022344: 37022344
131 NIPBL NM_133433.3(NIPBL): c.5455C> T (p.Arg1819Ter) single nucleotide variant Pathogenic rs587783975 GRCh37 Chromosome 5, 37022373: 37022373
132 NIPBL NM_133433.3(NIPBL): c.5465A> G (p.Asp1822Gly) single nucleotide variant Likely pathogenic rs587783977 GRCh37 Chromosome 5, 37022383: 37022383
133 NIPBL NM_133433.3(NIPBL): c.5482C> T (p.Arg1828Ter) single nucleotide variant Pathogenic rs62654864 GRCh37 Chromosome 5, 37022400: 37022400
134 NIPBL NM_133433.3(NIPBL): c.5483G> A (p.Arg1828Gln) single nucleotide variant Pathogenic rs587783978 GRCh37 Chromosome 5, 37022401: 37022401
135 NIPBL NM_133433.3(NIPBL): c.5709+1G> A single nucleotide variant Pathogenic rs587783979 GRCh37 Chromosome 5, 37024822: 37024822
136 NIPBL NM_133433.3(NIPBL): c.5709+2T> G single nucleotide variant Pathogenic rs587783980 GRCh37 Chromosome 5, 37024823: 37024823
137 NIPBL NM_133433.3(NIPBL): c.5732A> C (p.Gln1911Pro) single nucleotide variant Likely pathogenic rs587783982 GRCh37 Chromosome 5, 37026353: 37026353
138 NIPBL NM_133433.3(NIPBL): c.5808+1G> A single nucleotide variant Pathogenic rs587783984 GRCh37 Chromosome 5, 37026430: 37026430
139 NIPBL NM_133433.3(NIPBL): c.5862+1G> A single nucleotide variant Pathogenic rs587783985 GRCh37 Chromosome 5, 37027515: 37027515
140 NIPBL NM_133433.3(NIPBL): c.5923G> T (p.Val1975Phe) single nucleotide variant Likely pathogenic rs587783986 GRCh37 Chromosome 5, 37036541: 37036541
141 NIPBL NM_015384.4(NIPBL): c.5924_5926delTTG (p.Val1975del) deletion Likely pathogenic rs587783987 GRCh37 Chromosome 5, 37036542: 37036544
142 NIPBL NM_133433.3(NIPBL): c.6108+1G> T single nucleotide variant Pathogenic rs587783994 GRCh37 Chromosome 5, 37038841: 37038841
143 NIPBL NM_133433.3(NIPBL): c.6158T> C (p.Leu2053Pro) single nucleotide variant Likely pathogenic rs587783997 GRCh37 Chromosome 5, 37044498: 37044498
144 NIPBL NM_133433.3(NIPBL): c.6170T> C (p.Leu2057Pro) single nucleotide variant Likely pathogenic rs587783998 GRCh37 Chromosome 5, 37044510: 37044510
145 NIPBL NM_133433.3(NIPBL): c.6242G> T (p.Gly2081Val) single nucleotide variant Likely pathogenic rs587784000 GRCh37 Chromosome 5, 37044582: 37044582
146 NIPBL NM_133433.3(NIPBL): c.6250G> T (p.Val2084Leu) single nucleotide variant Likely pathogenic rs587784002 GRCh37 Chromosome 5, 37044738: 37044738
147 NIPBL NM_133433.3(NIPBL): c.6266T> G (p.Val2089Gly) single nucleotide variant Likely pathogenic rs587784003 GRCh37 Chromosome 5, 37044754: 37044754
148 NIPBL NM_133433.3(NIPBL): c.6316G> C (p.Val2106Leu) single nucleotide variant Likely pathogenic rs587784004 GRCh37 Chromosome 5, 37044804: 37044804
149 NIPBL NM_015384.4(NIPBL): c.6317_6320delTGTG (p.Val2106Glyfs) deletion Pathogenic rs587784005 GRCh37 Chromosome 5, 37044805: 37044808
150 NIPBL NM_133433.3(NIPBL): c.6343G> A (p.Gly2115Ser) single nucleotide variant Likely pathogenic rs587784007 GRCh37 Chromosome 5, 37044831: 37044831
151 NIPBL NM_015384.4(NIPBL): c.6362_6364delAAA (p.Lys2121del) deletion Likely pathogenic rs587784008 GRCh37 Chromosome 5, 37045563: 37045565
152 NIPBL NM_133433.3(NIPBL): c.6478G> T (p.Asp2160Tyr) single nucleotide variant Likely pathogenic rs147054690 GRCh37 Chromosome 5, 37045679: 37045679
153 NIPBL NM_133433.3(NIPBL): c.6565C> T (p.Gln2189Ter) single nucleotide variant Pathogenic rs587784013 GRCh37 Chromosome 5, 37046277: 37046277
154 NIPBL NM_133433.3(NIPBL): c.6571A> T (p.Lys2191Ter) single nucleotide variant Pathogenic rs587784015 GRCh37 Chromosome 5, 37046283: 37046283
155 NIPBL NM_133433.3(NIPBL): c.6590-2A> C single nucleotide variant Pathogenic rs587784016 GRCh37 Chromosome 5, 37048602: 37048602
156 NIPBL NM_133433.3(NIPBL): c.6590G> A (p.Gly2197Glu) single nucleotide variant Pathogenic rs587784017 GRCh37 Chromosome 5, 37048604: 37048604
157 NIPBL NM_015384.4(NIPBL): c.6632_6634delAAG (p.Glu2211del) deletion Likely pathogenic rs587784019 GRCh37 Chromosome 5, 37048646: 37048648
158 NIPBL NM_015384.4(NIPBL): c.6648_6649delTA (p.Tyr2216Terfs) deletion Pathogenic rs587784021 GRCh37 Chromosome 5, 37048662: 37048663
159 NIPBL NM_015384.4(NIPBL): c.6653_6655delATA (p.Asn2218del) deletion Pathogenic rs587784022 GRCh37 Chromosome 5, 37048667: 37048669
160 NIPBL NM_133433.3(NIPBL): c.6707A> T (p.Asn2236Ile) single nucleotide variant Pathogenic rs587784023 GRCh37 Chromosome 5, 37048721: 37048721
161 NIPBL NM_133433.3(NIPBL): c.6892C> T (p.Arg2298Cys) single nucleotide variant Pathogenic rs80358376 GRCh37 Chromosome 5, 37049341: 37049341
162 NIPBL NM_133433.3(NIPBL): c.6893G> A (p.Arg2298His) single nucleotide variant Pathogenic rs587784024 GRCh37 Chromosome 5, 37049342: 37049342
163 NIPBL NM_133433.3(NIPBL): c.6935G> T (p.Gly2312Val) single nucleotide variant Likely pathogenic rs587784025 GRCh37 Chromosome 5, 37049384: 37049384
164 NIPBL NM_133433.3(NIPBL): c.6952C> T (p.Gln2318Ter) single nucleotide variant Pathogenic rs587784026 GRCh37 Chromosome 5, 37049401: 37049401
165 NIPBL NM_133433.3(NIPBL): c.6954+1G> A single nucleotide variant Pathogenic rs587784027 GRCh37 Chromosome 5, 37049404: 37049404
166 NIPBL NM_015384.4(NIPBL): c.7011_7012delGG (p.Lys2337Asnfs) deletion Pathogenic rs587784029 GRCh37 Chromosome 5, 37051937: 37051938
167 NIPBL NM_133433.3(NIPBL): c.7012G> C (p.Ala2338Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587784030 GRCh37 Chromosome 5, 37051938: 37051938
168 NIPBL NM_133433.3(NIPBL): c.7062+2T> C single nucleotide variant Pathogenic rs587784032 GRCh37 Chromosome 5, 37051990: 37051990
169 NIPBL NM_133433.3(NIPBL): c.7102C> T (p.Gln2368Ter) single nucleotide variant Pathogenic rs587784033 GRCh37 Chromosome 5, 37052507: 37052507
170 NIPBL NM_015384.4(NIPBL): c.7106delA (p.Gln2369Argfs) deletion Pathogenic rs587784034 GRCh37 Chromosome 5, 37052511: 37052511
171 NIPBL NM_133433.3(NIPBL): c.7141G> A (p.Gly2381Ser) single nucleotide variant Likely pathogenic rs587784035 GRCh37 Chromosome 5, 37052546: 37052546
172 NIPBL NM_133433.3(NIPBL): c.7168G> A (p.Ala2390Thr) single nucleotide variant Pathogenic/Likely pathogenic rs587784036 GRCh37 Chromosome 5, 37052573: 37052573
173 NIPBL NM_015384.4(NIPBL): c.7198delC (p.Arg2400Valfs) deletion Pathogenic rs587784037 GRCh37 Chromosome 5, 37052603: 37052603
174 NIPBL NM_133433.3(NIPBL): c.7264-6T> G single nucleotide variant Pathogenic rs587784038 GRCh37 Chromosome 5, 37057282: 37057282
175 NIPBL NM_133433.3(NIPBL): c.7306G> A (p.Ala2436Thr) single nucleotide variant Likely pathogenic rs587784039 GRCh37 Chromosome 5, 37057330: 37057330
176 NIPBL NM_015384.4(NIPBL): c.7336_7338delCCG (p.Pro2446del) deletion Likely pathogenic rs587784040 GRCh37 Chromosome 5, 37057360: 37057362
177 NIPBL NM_015384.4(NIPBL): c.7439_7440delGA (p.Arg2480Lysfs) deletion Pathogenic rs587784043 GRCh37 Chromosome 5, 37059021: 37059022
178 NIPBL NM_015384.4(NIPBL): c.7701_7725del25 (p.Ser2568Metfs) deletion Pathogenic rs587784047 GRCh37 Chromosome 5, 37060961: 37060985
179 NIPBL NM_133433.3(NIPBL): c.7849C> T (p.Gln2617Ter) single nucleotide variant Pathogenic rs587784050 GRCh37 Chromosome 5, 37061109: 37061109
180 NIPBL NM_133433.3(NIPBL): c.8165_8183del19 (p.Pro2722Argfs) deletion Pathogenic rs587784052 GRCh37 Chromosome 5, 37064744: 37064762
181 NIPBL NM_133433.3(NIPBL): c.8173G> C (p.Ala2725Pro) single nucleotide variant Likely pathogenic rs587784053 GRCh37 Chromosome 5, 37064752: 37064752
182 NIPBL NM_133433.3(NIPBL): c.8277_8283delGGTGCCT (p.Val2760Glyfs) deletion Pathogenic rs587784055 GRCh37 Chromosome 5, 37064856: 37064862
183 NIPBL NM_133433.3(NIPBL): c.8300_8301delAA (p.Lys2767Argfs) deletion Pathogenic rs587784056 GRCh37 Chromosome 5, 37064879: 37064880
184 NIPBL NM_015384.4(NIPBL): c.6701T> G (p.Leu2234Ter) single nucleotide variant Pathogenic rs727504047 GRCh37 Chromosome 5, 37048715: 37048715
185 NIPBL NM_015384.4(NIPBL): c.65-3T> G single nucleotide variant Pathogenic rs727503768 GRCh38 Chromosome 5, 36955469: 36955469
186 NIPBL NM_015384.4(NIPBL): c.914C> A (p.Ser305Ter) single nucleotide variant Pathogenic rs727503770 GRCh38 Chromosome 5, 36975821: 36975821
187 NIPBL NM_015384.4(NIPBL): c.1801delA (p.Lys603Serfs) deletion Pathogenic rs727503767 GRCh37 Chromosome 5, 36985083: 36985083
188 NIPBL NM_015384.4(NIPBL): c.2147_2148delAA (p.Lys717Glufs) deletion Pathogenic rs727503766 GRCh37 Chromosome 5, 36985429: 36985430
189 NIPBL NM_015384.4(NIPBL): c.4321G> T (p.Val1441Leu) single nucleotide variant Pathogenic rs727503769 GRCh37 Chromosome 5, 37008725: 37008725
190 NIPBL NM_015384.4(NIPBL): c.5211_5212insT (p.Ser1739Terfs) duplication Pathogenic rs730880331 GRCh37 Chromosome 5, 37020762: 37020762
191 NIPBL NM_015384.4(NIPBL): c.7637T> C (p.Leu2546Pro) single nucleotide variant Pathogenic rs727503772 GRCh38 Chromosome 5, 37059117: 37059117
192 NIPBL NM_015384.4(NIPBL): c.7900_7937del38 (p.Glu2635Glnfs) deletion Pathogenic rs727503771 GRCh37 Chromosome 5, 37063931: 37063968
193 TAF6 NM_005641.3(TAF6): c.136C> T (p.Arg46Cys) single nucleotide variant Pathogenic rs727503778 GRCh38 Chromosome 7, 100114074: 100114074
194 KMT2A NM_005933.3(KMT2A): c.2233C> T (p.Arg745Ter) single nucleotide variant Pathogenic rs727503777 GRCh38 Chromosome 11, 118473392: 118473392
195 NIPBL NM_015384.4(NIPBL): c.5808+2T> G single nucleotide variant Pathogenic rs794727556 GRCh37 Chromosome 5, 37026431: 37026431
196 NIPBL NM_015384.4(NIPBL): c.6108+1G> C single nucleotide variant Pathogenic rs587783994 GRCh37 Chromosome 5, 37038841: 37038841
197 NIPBL NM_015384.4(NIPBL): c.212_213dupAG (p.Val72Argfs) duplication Pathogenic rs797045749 GRCh38 Chromosome 5, 36955619: 36955620
198 NIPBL NM_133433.3(NIPBL): c.286_287insG (p.Leu96Cysfs) insertion Pathogenic rs797045753 GRCh38 Chromosome 5, 36958159: 36958160
199 NIPBL NM_133433.3(NIPBL): c.314_315insA (p.Asn105Lysfs) duplication Pathogenic rs797045755 GRCh38 Chromosome 5, 36958187: 36958187
200 NIPBL NM_133433.3(NIPBL): c.458+1_458+2dup duplication Pathogenic rs797045763 GRCh38 Chromosome 5, 36961584: 36961585
201 NIPBL NM_015384.4(NIPBL): c.1146dupT (p.Ser383Terfs) duplication Pathogenic rs797045745 GRCh38 Chromosome 5, 36976053: 36976053
202 NIPBL NM_015384.4(NIPBL): c.1448_1449delAAinsCTCCCTT (p.Glu483Alafs) indel Pathogenic rs797045746 GRCh38 Chromosome 5, 36976355: 36976356
203 NIPBL NM_133433.3(NIPBL): c.1496-8A> G single nucleotide variant Likely pathogenic rs797045747 GRCh38 Chromosome 5, 36984668: 36984668
204 NIPBL NM_133433.3(NIPBL): c.1992_1993insC (p.Glu665Argfs) duplication Pathogenic rs797045748 GRCh37 Chromosome 5, 36985274: 36985274
205 NIPBL NM_015384.4(NIPBL): c.2394_2397dupTGAA (p.Ala800Terfs) duplication Pathogenic rs797045750 GRCh37 Chromosome 5, 36985676: 36985679
206 NIPBL NM_015384.4(NIPBL): c.2464delC (p.Gln822Lysfs) deletion Pathogenic rs797045751 GRCh38 Chromosome 5, 36985644: 36985644
207 NIPBL NM_133433.3(NIPBL): c.2521C> T (p.Arg841Ter) single nucleotide variant Pathogenic rs797045752 GRCh38 Chromosome 5, 36985701: 36985701
208 NIPBL NM_015384.4(NIPBL): c.2965dupA (p.Ile989Asnfs) duplication Pathogenic rs797045754 GRCh38 Chromosome 5, 36986145: 36986145
209 NIPBL NM_015384.4(NIPBL): c.3264delC (p.Ser1089Valfs) deletion Pathogenic rs797045756 GRCh38 Chromosome 5, 36995764: 36995764
210 NIPBL NM_133433.3(NIPBL): c.3856-7_3856-5del deletion Likely pathogenic rs797045757 GRCh38 Chromosome 5, 37006350: 37006352
211 NIPBL NM_133433.3(NIPBL): c.4320+2dup duplication Likely pathogenic rs797045758 GRCh38 Chromosome 5, 37008090: 37008090
212 NIPBL NM_133433.3(NIPBL): c.4495C> T (p.Gln1499Ter) single nucleotide variant Pathogenic rs797045760 GRCh38 Chromosome 5, 37010160: 37010160
213 NIPBL NM_133433.3(NIPBL): c.4529dupA (p.Asp1510Glufs) duplication Pathogenic rs797045761 GRCh38 Chromosome 5, 37010194: 37010194
214 NIPBL NM_015384.4(NIPBL): c.4532_4533delCT (p.Ser1511Terfs) deletion Pathogenic rs797045762 GRCh37 Chromosome 5, 37010299: 37010300
215 NIPBL NM_133433.3(NIPBL): c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528Leufs) insertion Pathogenic rs797045764 GRCh38 Chromosome 5, 37014702: 37014703
216 NIPBL NM_015384.4(NIPBL): c.4893dupA (p.Gly1632Argfs) duplication Pathogenic rs797045766 GRCh38 Chromosome 5, 37017135: 37017135
217 NIPBL NM_133433.3(NIPBL): c.4965_4972delGCTTGATT (p.Asp1657Glyfs) deletion Pathogenic rs797045767 GRCh38 Chromosome 5, 37019355: 37019362
218 NIPBL NM_015384.4(NIPBL): c.4988_4991dupCTGA (p.Glu1664Aspfs) duplication Pathogenic rs797045768 GRCh38 Chromosome 5, 37019378: 37019381
219 NIPBL NM_133433.3(NIPBL): c.5044C> T (p.Arg1682Ter) single nucleotide variant Pathogenic rs797045769 GRCh38 Chromosome 5, 37020492: 37020492
220 NIPBL NM_133433.3(NIPBL): c.5046_5047insTG (p.Asp1683Trpfs) insertion Pathogenic rs797045770 GRCh37 Chromosome 5, 37020596: 37020597
221 NIPBL NM_133433.3(NIPBL): c.5580dupT (p.Gly1861Trpfs) duplication Pathogenic rs797045771 GRCh38 Chromosome 5, 37024590: 37024590
222 NIPBL NM_133433.3(NIPBL): c.5679_5680insT (p.Arg1894Serfs) duplication Pathogenic rs797045772 GRCh38 Chromosome 5, 37024689: 37024689
223 NIPBL NM_015384.4(NIPBL): c.5739_5740delCT (p.Trp1914Valfs) deletion Pathogenic rs797045773 GRCh37 Chromosome 5, 37026360: 37026361
224 NIPBL NM_133433.3(NIPBL): c.6108+2T> C single nucleotide variant Pathogenic rs797045775 GRCh38 Chromosome 5, 37038740: 37038740
225 NIPBL NM_133433.3(NIPBL): c.6249+2dup duplication Pathogenic rs797045776 GRCh38 Chromosome 5, 37044489: 37044489
226 NIPBL NM_015384.4(NIPBL): c.6707dupA (p.Asn2236Lysfs) duplication Pathogenic rs797045778 GRCh37 Chromosome 5, 37048721: 37048721
227 NIPBL NM_133433.3(NIPBL): c.6800T> G (p.Met2267Arg) single nucleotide variant Likely pathogenic rs797045779 GRCh37 Chromosome 5, 37049249: 37049249
228 NIPBL NM_015384.4(NIPBL): c.6811dupT (p.Ser2271Phefs) duplication Pathogenic rs797045780 GRCh38 Chromosome 5, 37049158: 37049158
229 NIPBL NM_015384.4(NIPBL): c.7301_7308delATCTAGCCins13 (p.?) indel Pathogenic rs797045782 GRCh37 Chromosome 5, 37057325: 37057332
230 NIPBL NM_015384.4(NIPBL): c.7816dupA (p.Ile2606Asnfs) duplication Pathogenic rs797045783 GRCh38 Chromosome 5, 37060974: 37060974
231 NIPBL NM_015384.4(NIPBL): c.7841_7842dupTA (p.Val2615Terfs) duplication Pathogenic rs797045784 GRCh38 Chromosome 5, 37060999: 37061000
232 NIPBL NM_133433.3(NIPBL): c.7912_7913insG (p.Glu2638Glyfs) duplication Pathogenic rs797045785 GRCh38 Chromosome 5, 37063841: 37063841
233 NIPBL NM_015384.4(NIPBL): c.7913dupA (p.Val2639Glyfs) duplication Pathogenic rs797045786 GRCh38 Chromosome 5, 37063842: 37063842
234 NIPBL NM_133433.3(NIPBL): c.8275_8276dupCT (p.Val2760Trpfs) duplication Pathogenic rs797045787 GRCh38 Chromosome 5, 37064752: 37064753
235 NIPBL NM_133433.3(NIPBL): c.8296_8300delATTAAinsTT (p.Ile2766_Lys2767delinsLeu) indel Likely pathogenic rs797045788 GRCh38 Chromosome 5, 37064773: 37064777
236 NIPBL NM_133433.3(NIPBL): c.8342_8348delCTAATAAinsATT (p.Ala2781Aspfs) indel Pathogenic rs797045789 GRCh38 Chromosome 5, 37064819: 37064825
237 NIPBL NM_015384.4(NIPBL): c.7175G> A (p.Cys2392Tyr) single nucleotide variant Likely pathogenic rs886042231 GRCh37 Chromosome 5, 37052580: 37052580
238 NIPBL NM_133433.3(NIPBL): c.3855+2T> C single nucleotide variant Pathogenic rs886043046 GRCh37 Chromosome 5, 37003451: 37003451
239 NIPBL NM_133433.3(NIPBL): c.592delC (p.His198Ilefs) deletion Pathogenic rs886043629 GRCh37 Chromosome 5, 36962358: 36962358
240 NIPBL NM_015384.4(NIPBL): c.6082C> T (p.Gln2028Ter) single nucleotide variant Pathogenic rs886044351 GRCh37 Chromosome 5, 37038814: 37038814
241 NIPBL NM_015384.4(NIPBL): c.7150C> T (p.Gln2384Ter) single nucleotide variant Pathogenic rs1057516034 GRCh38 Chromosome 5, 37052453: 37052453
242 NIPBL NM_133433.3(NIPBL): c.2464_2467delCAAA (p.Gln822Asnfs) deletion Pathogenic GRCh38 Chromosome 5, 36985644: 36985647
243 NIPBL NM_133433.3(NIPBL): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 36986287: 36986287
244 NIPBL NM_133433.3(NIPBL): c.3137C> A (p.Ser1046Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 36995637: 36995637
245 NIPBL NM_133433.3(NIPBL): c.3698T> G (p.Leu1233Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 37002797: 37002797
246 NIPBL NM_133433.3(NIPBL): c.6264_6267delTGTG (p.Cys2088Terfs) deletion Pathogenic GRCh38 Chromosome 5, 37044650: 37044653
247 NIPBL NM_133433.3(NIPBL): c.6401_6404dup (p.Pro2138Glnfs) duplication Pathogenic GRCh37 Chromosome 5, 37045602: 37045605

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

GO Terms for Cornelia De Lange Syndrome 1

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

(showing 1, show less)
id Name GO ID Score Top Affiliating Genes
1 MLL1 complex GO:0071339 8.62 KMT2A TAF6

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

(showing 2, show less)
id Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 8.96 KMT2A NIPBL
2 cognition GO:0050890 8.62 KMT2A NIPBL

Sources for Cornelia De Lange Syndrome 1

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