MCID: CRN139
MIFTS: 46

Cornelia De Lange Syndrome 1

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

Aliases & Classifications for Cornelia De Lange Syndrome 1

MalaCards integrated aliases for Cornelia De Lange Syndrome 1:

Name: Cornelia De Lange Syndrome 1 53 71 28 13
De Lange Syndrome 53 28
Cdls1 53 71
Typus Degenerativus Amstelodamensis 53
Amstelodamensis Typus Degenerativus 71
Brachmann-De Lange Syndrome; Bdls 53
Brachmann-De Lange Syndrome 53
Cdl; Cdls 53
Cdls 53
Bdls 53
Cdl 53

Characteristics:

OMIM:

53
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:

31
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 : 53 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, and has symptoms including seizures, low-set ears and short neck. 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.

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

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 5, show less)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 27.2 CDL1 HDAC8 KMT2A NIPBL RAD21 TAF6
2 cornelia de lange syndrome 2 10.9
3 cornelia de lange syndrome 5 10.9
4 roberts syndrome 9.4 NIPBL RAD21
5 kbg syndrome 9.2 HDAC8 NIPBL RAD21

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:

53
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 Gastroin testinal:
gastroesophageal reflux
pyloric stenosis

Genitourinary Internal Genitalia Male:
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:

31 (showing 80, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 low-set ears 31 HP:0000369
3 short neck 31 HP:0000470
4 ptosis 31 HP:0000508
5 nystagmus 31 HP:0000639
6 intellectual disability 31 HP:0001249
7 self-injurious behavior 31 HP:0100716
8 inguinal hernia 31 HP:0000023
9 widely spaced teeth 31 HP:0000687
10 behavioral abnormality 31 HP:0000708
11 delayed skeletal maturation 31 HP:0002750
12 depressed nasal bridge 31 HP:0005280
13 delayed speech and language development 31 HP:0000750
14 microcephaly 31 HP:0000252
15 sensorineural hearing impairment 31 HP:0000407
16 anteverted nares 31 HP:0000463
17 optic atrophy 31 HP:0000648
18 short stature 31 HP:0004322
19 hypertonia 31 HP:0001276
20 gastroesophageal reflux 31 HP:0002020
21 proteinuria 31 occasional (7.5%) HP:0000093
22 brachycephaly 31 HP:0000248
23 cleft palate 31 HP:0000175
24 long philtrum 31 HP:0000343
25 micrognathia 31 HP:0000347
26 ectopic kidney 31 HP:0000086
27 strabismus 31 HP:0000486
28 delayed eruption of teeth 31 HP:0000684
29 micromelia 31 HP:0002983
30 cryptorchidism 31 HP:0000028
31 short sternum 31 HP:0000879
32 intrauterine growth retardation 31 HP:0001511
33 low posterior hairline 31 HP:0002162
34 high, narrow palate 31 HP:0002705
35 myopia 31 HP:0000545
36 thrombocytopenia 31 HP:0001873
37 hypospadias 31 HP:0000047
38 clinodactyly of the 5th finger 31 HP:0004209
39 conductive hearing impairment 31 HP:0000405
40 downturned corners of mouth 31 HP:0002714
41 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
42 renal hypoplasia 31 occasional (7.5%) HP:0000089
43 choanal atresia 31 HP:0000453
44 ventricular septal defect 31 HP:0001629
45 thin upper lip vermilion 31 HP:0000219
46 highly arched eyebrow 31 HP:0002553
47 curly eyelashes 31 HP:0007665
48 pyloric stenosis 31 HP:0002021
49 proptosis 31 HP:0000520
50 long eyelashes 31 HP:0000527
51 cleft upper lip 31 HP:0000204
52 synophrys 31 HP:0000664
53 microcornea 31 HP:0000482
54 proximal placement of thumb 31 HP:0009623
55 optic nerve coloboma 31 HP:0000588
56 hiatus hernia 31 HP:0002036
57 supernumerary ribs 31 HP:0005815
58 weak cry 31 HP:0001612
59 congenital diaphragmatic hernia 31 HP:0000776
60 astigmatism 31 HP:0000483
61 hypoplastic labia majora 31 HP:0000059
62 cutis marmorata 31 HP:0000965
63 hypoplastic nipples 31 HP:0002557
64 pneumonia 31 HP:0002090
65 hypoplasia of the radius 31 HP:0002984
66 phocomelia 31 HP:0009829
67 single transverse palmar crease 31 HP:0000954
68 renal cyst 31 occasional (7.5%) HP:0000107
69 2-3 toe syndactyly 31 HP:0004691
70 limited elbow extension 31 HP:0001377
71 dislocated radial head 31 HP:0003083
72 hirsutism 31 HP:0001007
73 elbow flexion contracture 31 HP:0002987
74 hypoplastic male external genitalia 31 HP:0000050
75 duplication of internal organs 31 HP:0005217
76 hand oligodactyly 31 HP:0001180
77 malrotation of colon 31 HP:0004785
78 abnormality of the umbilicus 31 HP:0001551
79 hypoplastic radial head 31 HP:0003997
80 reduced renal corticomedullary differentiation 31 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 36, 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
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
Ciprofloxacin Approved, Investigational 85721-33-1 2764
10
Everolimus Approved 159351-69-6 6442177
11
Sirolimus Approved, Investigational 53123-88-9 46835353 6436030 5284616
12
Amiodarone Approved, Investigational 1951-25-3 2157
13
Digoxin Approved 20830-75-5 2724385 30322
14
Metoprolol Approved, Investigational 51384-51-1, 37350-58-6 4171
15
Verapamil Approved 52-53-9 2520
16 Anti-Bacterial Agents
17 Anti-Infective Agents
18 Cystatins
19 Cytochrome P-450 CYP1A2 Inhibitors
20 Cytochrome P-450 Enzyme Inhibitors
21 Topoisomerase Inhibitors
22 Adrenergic beta-1 Receptor Antagonists
23 Autonomic Agents
24 calcium channel blockers
25 Calcium, Dietary
26 Cytochrome P-450 CYP2C9 Inhibitors
27 Cytochrome P-450 CYP2D6 Inhibitors
28 Cytochrome P-450 CYP3A Inhibitors
29 Diuretics, Potassium Sparing
30 Peripheral Nervous System Agents
31 Potassium Channel Blockers
32 Protective Agents
33 Sodium Channel Blockers
34 Sympatholytics
35 leucine Nutraceutical
36 Cola Nutraceutical

Interventional clinical trials:

(showing 14, show less)

# 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 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069
4 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277
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
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
12 OPTIMIZE IDE for the Treatment of ACS Recruiting NCT03190473
13 PRESSUREwire Study Recruiting NCT02935088
14 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:

# Genetic test Affiliating Genes
1 De Lange Syndrome 28 HDAC8 RAD21
2 Cornelia De Lange Syndrome 1 28 NIPBL

Anatomical Context for Cornelia De Lange Syndrome 1

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

38
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:

71 (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 259, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 NIPBL NM_133433.3(NIPBL): c.2479_2480delAG (p.Arg827Glyfs) deletion Pathogenic rs398124465 GRCh37 Chromosome 5, 36985761: 36985762
2 NIPBL NM_133433.3(NIPBL): c.2602C> T (p.Arg868Ter) single nucleotide variant Pathogenic rs398124466 GRCh37 Chromosome 5, 36985884: 36985884
3 NIPBL NM_015384.4(NIPBL): c.2626dupG (p.Asp876Glyfs) duplication Pathogenic rs398124467 GRCh37 Chromosome 5, 36985908: 36985908
4 NIPBL NM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter) single nucleotide variant Pathogenic rs80358362 GRCh37 Chromosome 5, 37022358: 37022358
5 NIPBL NM_015384.4(NIPBL): c.7047T> G (p.Tyr2349Ter) single nucleotide variant Pathogenic rs398124470 GRCh37 Chromosome 5, 37051973: 37051973
6 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh37 Chromosome 5, 37052624: 37052624
7 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh37 Chromosome 5, 37064956: 37064956
8 NIPBL NM_133433.3(NIPBL): c.133C> T (p.Arg45Ter) single nucleotide variant Pathogenic rs80358367 GRCh37 Chromosome 5, 36955642: 36955642
9 NIPBL NM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs) deletion Pathogenic rs80358382 GRCh37 Chromosome 5, 36976454: 36976457
10 NIPBL NM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs) deletion Pathogenic rs80358364 GRCh37 Chromosome 5, 36955701: 36955701
11 NIPBL NM_133433.3(NIPBL): c.3445C> T (p.Arg1149Ter) single nucleotide variant Pathogenic rs80358374 GRCh37 Chromosome 5, 37000615: 37000615
12 NIPBL NM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) deletion Pathogenic rs80358386 GRCh37 Chromosome 5, 37008155: 37008164
13 NIPBL NM_133433.3(NIPBL): c.4511T> A (p.Leu1504Ter) single nucleotide variant Pathogenic rs80358369 GRCh37 Chromosome 5, 37010278: 37010278
14 NIPBL NM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs) deletion Pathogenic rs80358372 GRCh37 Chromosome 5, 37017150: 37017151
15 NIPBL NM_133433.3(NIPBL): c.5366G> A (p.Arg1789Gln) single nucleotide variant Likely pathogenic rs80358380 GRCh37 Chromosome 5, 37022190: 37022190
16 NIPBL NM_133433.3(NIPBL): c.5456G> A (p.Arg1819Gln) single nucleotide variant Likely pathogenic rs80358366 GRCh37 Chromosome 5, 37022374: 37022374
17 NIPBL NM_133433.3(NIPBL): c.5566A> G (p.Arg1856Gly) single nucleotide variant Likely pathogenic rs80358373 GRCh37 Chromosome 5, 37022484: 37022484
18 NIPBL NM_133433.3(NIPBL): c.585C> G (p.Tyr195Ter) single nucleotide variant Pathogenic rs80358360 GRCh37 Chromosome 5, 36962351: 36962351
19 NIPBL NM_133433.3(NIPBL): c.6631G> T (p.Glu2211Ter) single nucleotide variant Pathogenic rs80358363 GRCh37 Chromosome 5, 37048645: 37048645
20 NIPBL NM_015384.4(NIPBL): c.6641_6647delATCTATA (p.Asn2214Ilefs) deletion Pathogenic rs80358361 GRCh37 Chromosome 5, 37048655: 37048661
21 NIPBL NM_133433.3(NIPBL): c.6892C> G (p.Arg2298Gly) single nucleotide variant Pathogenic rs80358376 GRCh37 Chromosome 5, 37049341: 37049341
22 NIPBL NM_133433.3(NIPBL): c.7301A> G (p.Asn2434Ser) single nucleotide variant Likely pathogenic rs80358384 GRCh37 Chromosome 5, 37057325: 37057325
23 NIPBL NM_133433.3(NIPBL): c.7327C> T (p.Gln2443Ter) single nucleotide variant Pathogenic rs80358370 GRCh37 Chromosome 5, 37057351: 37057351
24 NIPBL NM_133433.3(NIPBL): c.7789delC (p.Leu2597Cysfs) deletion Pathogenic rs80358368 GRCh37 Chromosome 5, 37061049: 37061049
25 NIPBL NM_133433.3(NIPBL): c.7806_7807insT (p.Asn2603Terfs) insertion Pathogenic rs80358371 GRCh37 Chromosome 5, 37061066: 37061066
26 NIPBL NM_133433.3(NIPBL): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs587783937 GRCh37 Chromosome 5, 36953801: 36953801
27 NIPBL NM_133433.3(NIPBL): c.64+1G> A single nucleotide variant Pathogenic rs587784009 GRCh37 Chromosome 5, 36953863: 36953863
28 NIPBL NM_133433.3(NIPBL): c.64+3A> C single nucleotide variant Pathogenic rs587784010 GRCh37 Chromosome 5, 36953865: 36953865
29 NIPBL NM_133433.3(NIPBL): c.64+5G> A single nucleotide variant Likely pathogenic rs587784011 GRCh37 Chromosome 5, 36953867: 36953867
30 NIPBL NM_133433.3(NIPBL): c.65-5A> G single nucleotide variant Likely pathogenic rs587784012 GRCh37 Chromosome 5, 36955569: 36955569
31 NIPBL NM_133433.3(NIPBL): c.86delC (p.Pro29Hisfs) deletion Pathogenic rs587784060 GRCh37 Chromosome 5, 36955595: 36955595
32 NIPBL NM_133433.3(NIPBL): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs587783886 GRCh38 Chromosome 5, 36955552: 36955552
33 NIPBL NM_015384.4(NIPBL): c.201_212delTAGCCTCAACCA (p.His67_Asn70del) deletion Likely pathogenic rs587783893 GRCh38 Chromosome 5, 36955608: 36955619
34 NIPBL NM_133433.3(NIPBL): c.206T> C (p.Leu69Pro) single nucleotide variant Likely pathogenic rs587783895 GRCh38 Chromosome 5, 36955613: 36955613
35 NIPBL NM_015384.4(NIPBL): c.310_317delCCTAATGT (p.Pro104Phefs) deletion Pathogenic rs587783917 GRCh37 Chromosome 5, 36958285: 36958292
36 NIPBL NM_133433.3(NIPBL): c.345A> G (p.Arg115=) single nucleotide variant Likely pathogenic rs587783922 GRCh37 Chromosome 5, 36958320: 36958320
37 NIPBL NM_133433.3(NIPBL): c.358+1G> T single nucleotide variant Pathogenic rs587783927 GRCh37 Chromosome 5, 36958334: 36958334
38 NIPBL NM_133433.3(NIPBL): c.358+5G> C single nucleotide variant Likely pathogenic rs587783928 GRCh37 Chromosome 5, 36958338: 36958338
39 NIPBL NM_015384.4(NIPBL): c.456delC (p.Ser153Alafs) deletion Pathogenic rs587783951 GRCh37 Chromosome 5, 36961683: 36961683
40 NIPBL NM_133433.3(NIPBL): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783988 GRCh37 Chromosome 5, 36962364: 36962364
41 NIPBL NM_133433.3(NIPBL): c.610+1G> A single nucleotide variant Pathogenic rs587783993 GRCh37 Chromosome 5, 36962377: 36962377
42 NIPBL NM_133433.3(NIPBL): c.737A> G (p.Asp246Gly) single nucleotide variant Pathogenic rs587784042 GRCh37 Chromosome 5, 36971104: 36971104
43 NIPBL NM_133433.3(NIPBL): c.771+1G> A single nucleotide variant Pathogenic rs587784048 GRCh38 Chromosome 5, 36971037: 36971037
44 NIPBL NM_133433.3(NIPBL): c.772-1G> A single nucleotide variant Pathogenic rs587784049 GRCh37 Chromosome 5, 36972046: 36972046
45 NIPBL NM_133433.3(NIPBL): c.869-1G> A single nucleotide variant Pathogenic rs587784059 GRCh37 Chromosome 5, 36975877: 36975877
46 NIPBL NM_133433.3(NIPBL): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs587784062 GRCh37 Chromosome 5, 36975901: 36975901
47 NIPBL NM_015384.4(NIPBL): c.892delC (p.Gln298Asnfs) deletion Pathogenic rs587784063 GRCh37 Chromosome 5, 36975901: 36975901
48 NIPBL NM_133433.3(NIPBL): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs587784065 GRCh38 Chromosome 5, 36975829: 36975829
49 NIPBL NM_015384.4(NIPBL): c.1003delG (p.Glu335Lysfs) deletion Pathogenic rs587783877 GRCh38 Chromosome 5, 36975910: 36975910
50 NIPBL NM_015384.4(NIPBL): c.1033_1036delTATG (p.Tyr345Ilefs) deletion Pathogenic rs587783878 GRCh38 Chromosome 5, 36975940: 36975943
51 NIPBL NM_133433.3(NIPBL): c.1057A> T (p.Lys353Ter) single nucleotide variant Pathogenic rs587783879 GRCh38 Chromosome 5, 36975964: 36975964
52 NIPBL NM_015384.4(NIPBL): c.1086_1087delTT (p.Arg364Cysfs) deletion Pathogenic rs587783880 GRCh37 Chromosome 5, 36976095: 36976096
53 NIPBL NM_133433.3(NIPBL): c.1183C> T (p.Gln395Ter) single nucleotide variant Pathogenic rs587783882 GRCh38 Chromosome 5, 36976090: 36976090
54 NIPBL NM_133433.3(NIPBL): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs587783883 GRCh38 Chromosome 5, 36976204: 36976204
55 NIPBL NM_133433.3(NIPBL): c.1372C> T (p.Gln458Ter) single nucleotide variant Pathogenic rs587783884 GRCh38 Chromosome 5, 36976279: 36976279
56 NIPBL NM_015384.4(NIPBL): c.1447_1448delGA (p.Glu483Ilefs) deletion Pathogenic rs587783885 GRCh38 Chromosome 5, 36976354: 36976355
57 NIPBL NM_133433.3(NIPBL): c.1477A> G (p.Lys493Glu) single nucleotide variant Likely pathogenic rs587783887 GRCh37 Chromosome 5, 36976486: 36976486
58 NIPBL NM_015384.4(NIPBL): c.1514_1517delGAAA (p.Arg505Asnfs) deletion Pathogenic rs587783888 GRCh37 Chromosome 5, 36984796: 36984799
59 NIPBL NM_133433.3(NIPBL): c.1576C> T (p.Gln526Ter) single nucleotide variant Pathogenic rs587783889 GRCh37 Chromosome 5, 36984858: 36984858
60 NIPBL NM_015384.4(NIPBL): c.1753delA (p.Ile585Leufs) deletion Pathogenic rs587783891 GRCh38 Chromosome 5, 36984933: 36984933
61 NIPBL NM_133433.3(NIPBL): c.1885C> T (p.Arg629Ter) single nucleotide variant Pathogenic rs587783892 GRCh38 Chromosome 5, 36985065: 36985065
62 NIPBL NM_015384.4(NIPBL): c.2046delA (p.Lys682Asnfs) deletion Pathogenic rs587783894 GRCh38 Chromosome 5, 36985226: 36985226
63 NIPBL NM_133433.3(NIPBL): c.2093C> G (p.Ser698Ter) single nucleotide variant Pathogenic rs587783896 GRCh38 Chromosome 5, 36985273: 36985273
64 NIPBL NM_015384.4(NIPBL): c.2107_2108delCC (p.Pro703Lysfs) deletion Pathogenic rs587783897 GRCh38 Chromosome 5, 36985287: 36985288
65 NIPBL NM_015384.4(NIPBL): c.2108delC (p.Pro703Glnfs) deletion Pathogenic rs587783898 GRCh38 Chromosome 5, 36985288: 36985288
66 NIPBL NM_133433.3(NIPBL): c.2260C> T (p.Arg754Ter) single nucleotide variant Pathogenic rs587783899 GRCh38 Chromosome 5, 36985440: 36985440
67 NIPBL NM_133433.3(NIPBL): c.2389C> T (p.Arg797Ter) single nucleotide variant Pathogenic rs587783901 GRCh38 Chromosome 5, 36985569: 36985569
68 NIPBL NM_133433.3(NIPBL): c.2422C> T (p.Arg808Ter) single nucleotide variant Pathogenic rs587783902 GRCh38 Chromosome 5, 36985602: 36985602
69 NIPBL NM_133433.3(NIPBL): c.2489C> G (p.Ser830Ter) single nucleotide variant Pathogenic rs587783905 GRCh37 Chromosome 5, 36985771: 36985771
70 NIPBL NM_133433.3(NIPBL): c.2494C> T (p.Arg832Ter) single nucleotide variant Pathogenic rs587783906 GRCh37 Chromosome 5, 36985776: 36985776
71 NIPBL NM_133433.3(NIPBL): c.2500C> T (p.Arg834Ter) single nucleotide variant Pathogenic rs587783907 GRCh38 Chromosome 5, 36985680: 36985680
72 NIPBL NM_015384.4(NIPBL): c.2711delG (p.Arg904Asnfs) deletion Pathogenic rs587783909 GRCh38 Chromosome 5, 36985891: 36985891
73 NIPBL NM_015384.4(NIPBL): c.2773_2774delAA (p.Lys925Glufs) deletion Pathogenic rs587783910 GRCh38 Chromosome 5, 36985953: 36985954
74 NIPBL NM_133433.3(NIPBL): c.2832T> A (p.Tyr944Ter) single nucleotide variant Pathogenic rs587783911 GRCh38 Chromosome 5, 36986012: 36986012
75 NIPBL NM_015384.4(NIPBL): c.2903delA (p.Asn968Metfs) deletion Pathogenic rs587783912 GRCh38 Chromosome 5, 36986083: 36986083
76 NIPBL NM_133433.3(NIPBL): c.3060_3063delAGAG (p.Glu1021Thrfs) deletion Pathogenic rs587783914 GRCh38 Chromosome 5, 36986240: 36986243
77 NIPBL NM_133433.3(NIPBL): c.3122-2A> G single nucleotide variant Likely pathogenic rs587783918 GRCh38 Chromosome 5, 36995620: 36995620
78 NIPBL NM_133433.3(NIPBL): c.3304+5G> A single nucleotide variant Likely pathogenic rs80358356 GRCh38 Chromosome 5, 36995809: 36995809
79 NIPBL NM_133433.3(NIPBL): c.3305-1G> T single nucleotide variant Pathogenic rs80358375 GRCh38 Chromosome 5, 37000372: 37000372
80 NIPBL NM_133433.3(NIPBL): c.3322A> T (p.Lys1108Ter) single nucleotide variant Pathogenic rs587783919 GRCh37 Chromosome 5, 37000492: 37000492
81 NIPBL NM_133433.3(NIPBL): c.3440G> A (p.Arg1147Gln) single nucleotide variant Likely pathogenic rs587783921 GRCh37 Chromosome 5, 37000610: 37000610
82 NIPBL NM_015384.4(NIPBL): c.3461_3462delCT (p.Ser1154Terfs) deletion Pathogenic rs587783923 GRCh37 Chromosome 5, 37000631: 37000632
83 NIPBL NM_015384.4(NIPBL): c.3526_3530delGAAAA (p.Glu1176Thrfs) deletion Pathogenic rs587783925 GRCh37 Chromosome 5, 37000942: 37000946
84 NIPBL NM_133433.3(NIPBL): c.3575-3C> G single nucleotide variant Pathogenic rs587783926 GRCh37 Chromosome 5, 37001088: 37001088
85 NIPBL NM_015384.4(NIPBL): c.3788_3789delTG (p.Val1263Glufs) deletion Pathogenic rs587783930 GRCh38 Chromosome 5, 37003280: 37003281
86 NIPBL NM_015384.4(NIPBL): c.3804_3818delCTTGGAGAAGAATAT (p.Leu1269_Ile1273del) deletion Likely pathogenic rs587783931 GRCh37 Chromosome 5, 37003398: 37003412
87 NIPBL NM_133433.3(NIPBL): c.3818T> G (p.Ile1273Ser) single nucleotide variant Likely pathogenic rs587783932 GRCh37 Chromosome 5, 37003412: 37003412
88 NIPBL NM_133433.3(NIPBL): c.3855+1G> T single nucleotide variant Pathogenic rs587783933 GRCh37 Chromosome 5, 37003450: 37003450
89 NIPBL NM_133433.3(NIPBL): c.3855+5G> A single nucleotide variant Likely pathogenic rs80358378 GRCh38 Chromosome 5, 37003352: 37003352
90 NIPBL NM_015384.4(NIPBL): c.3866_3869delCTGA (p.Thr1289Lysfs) deletion Pathogenic rs587783934 GRCh38 Chromosome 5, 37006367: 37006370
91 NIPBL NM_133433.3(NIPBL): c.3874G> T (p.Glu1292Ter) single nucleotide variant Pathogenic rs587783936 GRCh37 Chromosome 5, 37006477: 37006477
92 NIPBL NM_133433.3(NIPBL): c.4017C> A (p.Tyr1339Ter) single nucleotide variant Pathogenic rs587783938 GRCh37 Chromosome 5, 37006620: 37006620
93 NIPBL NM_133433.3(NIPBL): c.4088-2A> T single nucleotide variant Pathogenic rs587783939 GRCh37 Chromosome 5, 37007423: 37007423
94 NIPBL NM_015384.4(NIPBL): c.4098_4101delAAGT (p.Leu1366Phefs) deletion Pathogenic rs587783940 GRCh37 Chromosome 5, 37007435: 37007438
95 NIPBL NM_015384.4(NIPBL): c.4143_4144delAG (p.Arg1381Serfs) deletion Pathogenic rs587783941 GRCh37 Chromosome 5, 37007480: 37007481
96 NIPBL NM_133433.3(NIPBL): c.4240-1G> C single nucleotide variant Pathogenic rs587783942 GRCh38 Chromosome 5, 37008007: 37008007
97 NIPBL NM_015384.4(NIPBL): c.4275_4287delAAATGTCAGTGAA (p.Glu1425Aspfs) deletion Pathogenic rs587783944 GRCh37 Chromosome 5, 37008145: 37008157
98 NIPBL NM_133433.3(NIPBL): c.4320+1G> A single nucleotide variant Pathogenic rs587783945 GRCh37 Chromosome 5, 37008191: 37008191
99 NIPBL NM_133433.3(NIPBL): c.4421G> C (p.Arg1474Thr) single nucleotide variant Likely pathogenic rs587783947 GRCh37 Chromosome 5, 37008825: 37008825
100 NIPBL NM_133433.3(NIPBL): c.4439T> G (p.Met1480Arg) single nucleotide variant Likely pathogenic rs587783948 GRCh37 Chromosome 5, 37010206: 37010206
101 NIPBL NM_133433.3(NIPBL): c.4543G> T (p.Glu1515Ter) single nucleotide variant Pathogenic rs587783950 GRCh37 Chromosome 5, 37010310: 37010310
102 NIPBL NM_133433.3(NIPBL): c.4593T> G (p.Tyr1531Ter) single nucleotide variant Pathogenic rs587783952 GRCh37 Chromosome 5, 37014817: 37014817
103 NIPBL NM_015384.4(NIPBL): c.4636delC (p.Lys1548Asnfs) deletion Pathogenic rs587783953 GRCh37 Chromosome 5, 37014860: 37014860
104 NIPBL NM_133433.3(NIPBL): c.4643+1G> C single nucleotide variant Pathogenic rs587783954 GRCh37 Chromosome 5, 37014868: 37014868
105 NIPBL NM_015384.4(NIPBL): c.4663delG (p.Glu1555Lysfs) deletion Pathogenic rs587783955 GRCh37 Chromosome 5, 37016159: 37016159
106 NIPBL NM_015384.4(NIPBL): c.4684_4687delTTTG (p.Phe1562Lysfs) deletion Pathogenic rs587783957 GRCh37 Chromosome 5, 37016180: 37016183
107 NIPBL NM_133433.3(NIPBL): c.4712C> A (p.Ser1571Ter) single nucleotide variant Pathogenic rs77632238 GRCh38 Chromosome 5, 37016106: 37016106
108 NIPBL NM_015384.4(NIPBL): c.4818_4819delAG (p.Arg1606Serfs) deletion Pathogenic rs587783959 GRCh37 Chromosome 5, 37017162: 37017163
109 NIPBL NM_015384.4(NIPBL): c.5033_5039delCCCAGTG (p.Ala1678Glyfs) deletion Pathogenic rs587783960 GRCh38 Chromosome 5, 37020481: 37020487
110 NIPBL NM_015384.4(NIPBL): c.5174delA (p.Lys1725Serfs) deletion Pathogenic rs587783961 GRCh37 Chromosome 5, 37020724: 37020724
111 NIPBL NM_133433.3(NIPBL): c.5327A> T (p.Gln1776Leu) single nucleotide variant Likely pathogenic rs587783966 GRCh37 Chromosome 5, 37020978: 37020978
112 NIPBL NM_133433.3(NIPBL): c.5328+1G> A single nucleotide variant Pathogenic rs587783967 GRCh37 Chromosome 5, 37020980: 37020980
113 NIPBL NM_133433.3(NIPBL): c.5329-1G> C single nucleotide variant Pathogenic rs587783969 GRCh38 Chromosome 5, 37022050: 37022050
114 NIPBL NM_133433.3(NIPBL): c.5335C> T (p.Arg1779Ter) single nucleotide variant Pathogenic rs587783971 GRCh38 Chromosome 5, 37022057: 37022057
115 NIPBL NM_133433.3(NIPBL): c.5365C> T (p.Arg1789Ter) single nucleotide variant Pathogenic rs587783972 GRCh37 Chromosome 5, 37022189: 37022189
116 NIPBL NM_015384.4(NIPBL): c.5389_5392delTCTG (p.Ser1797Argfs) deletion Pathogenic rs587783973 GRCh37 Chromosome 5, 37022213: 37022216
117 NIPBL NM_133433.3(NIPBL): c.5428-2A> G single nucleotide variant Pathogenic rs587783974 GRCh37 Chromosome 5, 37022344: 37022344
118 NIPBL NM_133433.3(NIPBL): c.5455C> T (p.Arg1819Ter) single nucleotide variant Pathogenic rs587783975 GRCh37 Chromosome 5, 37022373: 37022373
119 NIPBL NM_133433.3(NIPBL): c.5465A> G (p.Asp1822Gly) single nucleotide variant Likely pathogenic rs587783977 GRCh37 Chromosome 5, 37022383: 37022383
120 NIPBL NM_133433.3(NIPBL): c.5482C> T (p.Arg1828Ter) single nucleotide variant Pathogenic rs62654864 GRCh38 Chromosome 5, 37022298: 37022298
121 NIPBL NM_133433.3(NIPBL): c.5483G> A (p.Arg1828Gln) single nucleotide variant Pathogenic rs587783978 GRCh37 Chromosome 5, 37022401: 37022401
122 NIPBL NM_133433.3(NIPBL): c.5709+1G> A single nucleotide variant Pathogenic rs587783979 GRCh37 Chromosome 5, 37024822: 37024822
123 NIPBL NM_133433.3(NIPBL): c.5709+2T> G single nucleotide variant Pathogenic rs587783980 GRCh37 Chromosome 5, 37024823: 37024823
124 NIPBL NM_133433.3(NIPBL): c.5732A> C (p.Gln1911Pro) single nucleotide variant Likely pathogenic rs587783982 GRCh37 Chromosome 5, 37026353: 37026353
125 NIPBL NM_133433.3(NIPBL): c.5808+1G> A single nucleotide variant Pathogenic rs587783984 GRCh37 Chromosome 5, 37026430: 37026430
126 NIPBL NM_133433.3(NIPBL): c.5862+1G> A single nucleotide variant Pathogenic rs587783985 GRCh38 Chromosome 5, 37027413: 37027413
127 NIPBL NM_133433.3(NIPBL): c.5923G> T (p.Val1975Phe) single nucleotide variant Likely pathogenic rs587783986 GRCh37 Chromosome 5, 37036541: 37036541
128 NIPBL NM_015384.4(NIPBL): c.5924_5926delTTG (p.Val1975del) deletion Likely pathogenic rs587783987 GRCh37 Chromosome 5, 37036542: 37036544
129 NIPBL NM_133433.3(NIPBL): c.6108+1G> T single nucleotide variant Pathogenic rs587783994 GRCh38 Chromosome 5, 37038739: 37038739
130 NIPBL NM_133433.3(NIPBL): c.6158T> C (p.Leu2053Pro) single nucleotide variant Likely pathogenic rs587783997 GRCh37 Chromosome 5, 37044498: 37044498
131 NIPBL NM_133433.3(NIPBL): c.6170T> C (p.Leu2057Pro) single nucleotide variant Likely pathogenic rs587783998 GRCh37 Chromosome 5, 37044510: 37044510
132 NIPBL NM_133433.3(NIPBL): c.6242G> T (p.Gly2081Val) single nucleotide variant Likely pathogenic rs587784000 GRCh37 Chromosome 5, 37044582: 37044582
133 NIPBL NM_133433.3(NIPBL): c.6250G> T (p.Val2084Leu) single nucleotide variant Likely pathogenic rs587784002 GRCh37 Chromosome 5, 37044738: 37044738
134 NIPBL NM_133433.3(NIPBL): c.6266T> G (p.Val2089Gly) single nucleotide variant Likely pathogenic rs587784003 GRCh38 Chromosome 5, 37044652: 37044652
135 NIPBL NM_133433.3(NIPBL): c.6316G> C (p.Val2106Leu) single nucleotide variant Likely pathogenic rs587784004 GRCh37 Chromosome 5, 37044804: 37044804
136 NIPBL NM_015384.4(NIPBL): c.6317_6320delTGTG (p.Val2106Glyfs) deletion Pathogenic rs587784005 GRCh37 Chromosome 5, 37044805: 37044808
137 NIPBL NM_133433.3(NIPBL): c.6343G> A (p.Gly2115Ser) single nucleotide variant Likely pathogenic rs587784007 GRCh37 Chromosome 5, 37044831: 37044831
138 NIPBL NM_015384.4(NIPBL): c.6362_6364delAAA (p.Lys2121del) deletion Likely pathogenic rs587784008 GRCh37 Chromosome 5, 37045563: 37045565
139 NIPBL NM_133433.3(NIPBL): c.6478G> T (p.Asp2160Tyr) single nucleotide variant Likely pathogenic rs147054690 GRCh37 Chromosome 5, 37045679: 37045679
140 NIPBL NM_133433.3(NIPBL): c.6565C> T (p.Gln2189Ter) single nucleotide variant Pathogenic rs587784013 GRCh37 Chromosome 5, 37046277: 37046277
141 NIPBL NM_133433.3(NIPBL): c.6571A> T (p.Lys2191Ter) single nucleotide variant Pathogenic rs587784015 GRCh37 Chromosome 5, 37046283: 37046283
142 NIPBL NM_133433.3(NIPBL): c.6590-2A> C single nucleotide variant Pathogenic rs587784016 GRCh37 Chromosome 5, 37048602: 37048602
143 NIPBL NM_133433.3(NIPBL): c.6590G> A (p.Gly2197Glu) single nucleotide variant Pathogenic rs587784017 GRCh38 Chromosome 5, 37048502: 37048502
144 NIPBL NM_015384.4(NIPBL): c.6632_6634delAAG (p.Glu2211del) deletion Likely pathogenic rs587784019 GRCh38 Chromosome 5, 37048544: 37048546
145 NIPBL NM_015384.4(NIPBL): c.6648_6649delTA (p.Tyr2216Terfs) deletion Pathogenic rs587784021 GRCh37 Chromosome 5, 37048662: 37048663
146 NIPBL NM_015384.4(NIPBL): c.6653_6655delATA (p.Asn2218del) deletion Pathogenic rs587784022 GRCh37 Chromosome 5, 37048667: 37048669
147 NIPBL NM_133433.3(NIPBL): c.6707A> T (p.Asn2236Ile) single nucleotide variant Pathogenic rs587784023 GRCh37 Chromosome 5, 37048721: 37048721
148 NIPBL NM_133433.3(NIPBL): c.6892C> T (p.Arg2298Cys) single nucleotide variant Pathogenic rs80358376 GRCh37 Chromosome 5, 37049341: 37049341
149 NIPBL NM_133433.3(NIPBL): c.6893G> A (p.Arg2298His) single nucleotide variant Pathogenic rs587784024 GRCh37 Chromosome 5, 37049342: 37049342
150 NIPBL NM_133433.3(NIPBL): c.6935G> T (p.Gly2312Val) single nucleotide variant Likely pathogenic rs587784025 GRCh38 Chromosome 5, 37049282: 37049282
151 NIPBL NM_133433.3(NIPBL): c.6952C> T (p.Gln2318Ter) single nucleotide variant Pathogenic rs587784026 GRCh37 Chromosome 5, 37049401: 37049401
152 NIPBL NM_133433.3(NIPBL): c.6954+1G> A single nucleotide variant Pathogenic rs587784027 GRCh38 Chromosome 5, 37049302: 37049302
153 NIPBL NM_015384.4(NIPBL): c.7011_7012delGG (p.Lys2337Asnfs) deletion Pathogenic rs587784029 GRCh38 Chromosome 5, 37051835: 37051836
154 NIPBL NM_133433.3(NIPBL): c.7012G> C (p.Ala2338Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587784030 GRCh38 Chromosome 5, 37051836: 37051836
155 NIPBL NM_133433.3(NIPBL): c.7062+2T> C single nucleotide variant Pathogenic rs587784032 GRCh38 Chromosome 5, 37051888: 37051888
156 NIPBL NM_133433.3(NIPBL): c.7102C> T (p.Gln2368Ter) single nucleotide variant Pathogenic rs587784033 GRCh37 Chromosome 5, 37052507: 37052507
157 NIPBL NM_015384.4(NIPBL): c.7106delA (p.Gln2369Argfs) deletion Pathogenic rs587784034 GRCh38 Chromosome 5, 37052409: 37052409
158 NIPBL NM_133433.3(NIPBL): c.7141G> A (p.Gly2381Ser) single nucleotide variant Likely pathogenic rs587784035 GRCh37 Chromosome 5, 37052546: 37052546
159 NIPBL NM_133433.3(NIPBL): c.7168G> A (p.Ala2390Thr) single nucleotide variant Pathogenic/Likely pathogenic rs587784036 GRCh37 Chromosome 5, 37052573: 37052573
160 NIPBL NM_015384.4(NIPBL): c.7198delC (p.Arg2400Valfs) deletion Pathogenic rs587784037 GRCh37 Chromosome 5, 37052603: 37052603
161 NIPBL NM_133433.3(NIPBL): c.7264-6T> G single nucleotide variant Pathogenic rs587784038 GRCh37 Chromosome 5, 37057282: 37057282
162 NIPBL NM_133433.3(NIPBL): c.7306G> A (p.Ala2436Thr) single nucleotide variant Likely pathogenic rs587784039 GRCh37 Chromosome 5, 37057330: 37057330
163 NIPBL NM_015384.4(NIPBL): c.7336_7338delCCG (p.Pro2446del) deletion Likely pathogenic rs587784040 GRCh37 Chromosome 5, 37057360: 37057362
164 NIPBL NM_015384.4(NIPBL): c.7439_7440delGA (p.Arg2480Lysfs) deletion Pathogenic rs587784043 GRCh37 Chromosome 5, 37059021: 37059022
165 NIPBL NM_015384.4(NIPBL): c.7701_7725del25 (p.Ser2568Metfs) deletion Pathogenic rs587784047 GRCh38 Chromosome 5, 37060859: 37060883
166 NIPBL NM_133433.3(NIPBL): c.7849C> T (p.Gln2617Ter) single nucleotide variant Pathogenic rs587784050 GRCh38 Chromosome 5, 37061007: 37061007
167 NIPBL NM_133433.3(NIPBL): c.8165_8183del19 (p.Pro2722Argfs) deletion Pathogenic rs587784052 GRCh38 Chromosome 5, 37064642: 37064660
168 NIPBL NM_133433.3(NIPBL): c.8173G> C (p.Ala2725Pro) single nucleotide variant Likely pathogenic rs587784053 GRCh37 Chromosome 5, 37064752: 37064752
169 NIPBL NM_133433.3(NIPBL): c.8277_8283delGGTGCCT (p.Val2760Glyfs) deletion Pathogenic rs587784055 GRCh37 Chromosome 5, 37064856: 37064862
170 NIPBL NM_133433.3(NIPBL): c.8300_8301delAA (p.Lys2767Argfs) deletion Pathogenic rs587784056 GRCh37 Chromosome 5, 37064879: 37064880
171 NIPBL NM_015384.4(NIPBL): c.6701T> G (p.Leu2234Ter) single nucleotide variant Pathogenic rs727504047 GRCh37 Chromosome 5, 37048715: 37048715
172 NIPBL NM_015384.4(NIPBL): c.65-3T> G single nucleotide variant Pathogenic rs727503768 GRCh38 Chromosome 5, 36955469: 36955469
173 NIPBL NM_015384.4(NIPBL): c.914C> A (p.Ser305Ter) single nucleotide variant Pathogenic rs727503770 GRCh38 Chromosome 5, 36975821: 36975821
174 NIPBL NM_015384.4(NIPBL): c.1801delA (p.Lys603Serfs) deletion Pathogenic rs727503767 GRCh37 Chromosome 5, 36985083: 36985083
175 NIPBL NM_015384.4(NIPBL): c.2147_2148delAA (p.Lys717Glufs) deletion Pathogenic rs727503766 GRCh37 Chromosome 5, 36985429: 36985430
176 NIPBL NM_015384.4(NIPBL): c.4321G> T (p.Val1441Leu) single nucleotide variant Pathogenic rs727503769 GRCh37 Chromosome 5, 37008725: 37008725
177 NIPBL NM_015384.4(NIPBL): c.5211_5212insT (p.Ser1739Terfs) duplication Pathogenic rs730880331 GRCh37 Chromosome 5, 37020762: 37020762
178 NIPBL NM_015384.4(NIPBL): c.7637T> C (p.Leu2546Pro) single nucleotide variant Pathogenic rs727503772 GRCh38 Chromosome 5, 37059117: 37059117
179 NIPBL NM_015384.4(NIPBL): c.7900_7937del38 (p.Glu2635Glnfs) deletion Pathogenic rs727503771 GRCh37 Chromosome 5, 37063931: 37063968
180 TAF6 NM_005641.3(TAF6): c.136C> T (p.Arg46Cys) single nucleotide variant Pathogenic rs727503778 GRCh38 Chromosome 7, 100114074: 100114074
181 KMT2A NM_005933.3(KMT2A): c.2233C> T (p.Arg745Ter) single nucleotide variant Pathogenic rs727503777 GRCh38 Chromosome 11, 118473392: 118473392
182 NIPBL NM_015384.4(NIPBL): c.5808+2T> G single nucleotide variant Pathogenic rs794727556 GRCh37 Chromosome 5, 37026431: 37026431
183 NIPBL NM_015384.4(NIPBL): c.6108+1G> C single nucleotide variant Pathogenic rs587783994 GRCh37 Chromosome 5, 37038841: 37038841
184 NIPBL NM_015384.4(NIPBL): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121918264 GRCh37 Chromosome 5, 36953800: 36953800
185 NIPBL NM_015384.4(NIPBL): c.7289A> G (p.Tyr2430Cys) single nucleotide variant Pathogenic rs121918265 GRCh37 Chromosome 5, 37057313: 37057313
186 NIPBL NIPBL, 1-BP DEL, 150G deletion Pathogenic
187 NIPBL NIPBL, 1-BP INS, 7306G insertion Pathogenic
188 NIPBL NIPBL, 1-BP INS, 1546G insertion Pathogenic
189 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh37 Chromosome 5, 37001132: 37001134
190 NIPBL NIPBL, 2-BP DEL, 2479AG deletion Pathogenic
191 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh37 Chromosome 5, 37020717: 37020717
192 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh37 Chromosome 5, 37002836: 37002836
193 NIPBL NIPBL, IVS45AS, G-C, -1 single nucleotide variant Pathogenic
194 NIPBL NIPBL, IVS44DS, A-G, +4 single nucleotide variant Pathogenic
195 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh37 Chromosome 5, 37014830: 37014830
196 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh37 Chromosome 5, 36877039: 36877040
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 GRCh37 Chromosome 5, 36958261: 36958262
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 GRCh37 Chromosome 5, 36986247: 36986247
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 GRCh38 Chromosome 5, 37020494: 37020495
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
248 NIPBL NM_133433.3(NIPBL): c.868G> A (p.Gly290Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 36972143: 36972143
249 NIPBL NC_000005.10: g.(?_37045443)_(37048675_?)del deletion Likely pathogenic GRCh38 Chromosome 5, 37045443: 37048675
250 NIPBL NC_000005.10: g.(?_37038582)_(37038758_?)del deletion Pathogenic GRCh38 Chromosome 5, 37038582: 37038758
251 NIPBL NM_133433.3(NIPBL): c.169delA (p.Arg57Glyfs) deletion Pathogenic GRCh37 Chromosome 5, 36955678: 36955678
252 NIPBL NM_133433.3(NIPBL): c.3248delC (p.Pro1083Glnfs) deletion Pathogenic GRCh37 Chromosome 5, 36995850: 36995850
253 NIPBL NM_015384.4(NIPBL): c.2595dup (p.Leu866Thrfs) duplication Pathogenic GRCh37 Chromosome 5, 36985877: 36985877
254 NIPBL NM_133433.3(NIPBL): c.5374G> C (p.Ala1792Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 37022198: 37022198
255 NIPBL NM_133433.3(NIPBL): c.6086_6087insT (p.Tyr2030Ilefs) insertion Pathogenic GRCh37 Chromosome 5, 37038818: 37038819
256 NIPBL NM_133433.3(NIPBL): c.6589+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 37046306: 37046306
257 NIPBL NM_133433.3(NIPBL): c.3148G> T (p.Glu1050Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 36995648: 36995648
258 NIPBL NM_133433.3(NIPBL): c.1145delA (p.Asn382Ilefs) deletion Pathogenic GRCh37 Chromosome 5, 36976154: 36976154
259 NIPBL NM_133433.3(NIPBL): c.4686delT (p.Phe1562Leufs) deletion Pathogenic GRCh37 Chromosome 5, 37016182: 37016182

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 nucleoplasm GO:0005654 9.35 HDAC8 KMT2A NIPBL RAD21 TAF6
2 chromatin GO:0000785 9.16 NIPBL RAD21
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 3, show less)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.33 KMT2A RAD21 TAF6
2 sister chromatid cohesion GO:0007062 8.96 HDAC8 RAD21
3 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

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