MCID: ADM011
MIFTS: 51

Adams-Oliver Syndrome

Categories: Rare diseases, Bone diseases, Skin diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Adams-Oliver Syndrome

MalaCards integrated aliases for Adams-Oliver Syndrome:

Name: Adams-Oliver Syndrome 12 24 53 25 59 37 29 6 15 40
Adams Oliver Syndrome 12 53 44 73
Congenital Scalp Defects with Distal Limb Reduction Anomalies 53 25 59
Aos 53 25 59
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 24 25
Congenital Scalp Defects with Distal Limb Anomalies 53 59
Limb, Scalp and Skull Defects 53 59
Absence Defect of Limbs, Scalp, and Skull 25
Limb Scalp and Skull Defects 53

Characteristics:

Orphanet epidemiological data:

59
adams-oliver syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal;

GeneReviews:

24
Penetrance Familial autosomal dominant aos typically shows decreased penetrance...

Classifications:



Summaries for Adams-Oliver Syndrome

NIH Rare Diseases : 53 Adams-Oliver syndrome (AOS) is a rare disease characterized by an abnormality of skin development (areas of missing skin on the scalp called aplasia cutis congenita) and malformations of the hands and feet (terminal transverse limbs defects). The aplasia cutis may involve only the skin or include the skull under the skin. The terminal transverse limb defects may include webbed fingers or toes (syndactyly) and short or missing fingers or toes (brachydactyly or oligodactyly, respectively). Other signs and symptoms may include additional skeletal abnormalities of the limbs; cutis marmorata telangiectatica congenita (a blood vessel disorder); pulmonary hypertension; heart defects; and neurological problems. Severity can vary greatly among people with the syndrome and may be lethal in some cases. AOS is caused by mutations in any of six known genes. It may be inherited in an autosomal dominant or autosomal recessive manner, depending on the genetic cause. In some cases, the genetic cause is unknown. Treatment depends on the severity and specific features in each person, and often involves a team of specialists.

MalaCards based summary : Adams-Oliver Syndrome, also known as adams oliver syndrome, is related to adams-oliver syndrome 5 and aplasia cutis congenita, and has symptoms including seizures An important gene associated with Adams-Oliver Syndrome is DLL4 (Delta Like Canonical Notch Ligand 4), and among its related pathways/superpathways are Notch signaling pathway and PI3K-Akt signaling pathway. Affiliated tissues include skin, heart and bone, and related phenotypes are hydrocephalus and strabismus

Genetics Home Reference : 25 Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.

Disease Ontology : 12 A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.

Wikipedia : 76 Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and... more...

GeneReviews: NBK355754

Related Diseases for Adams-Oliver Syndrome

Diseases in the Adams-Oliver Syndrome family:

Adams-Oliver Syndrome 1 Adams-Oliver Syndrome 2
Adams-Oliver Syndrome 3 Adams-Oliver Syndrome 4
Adams-Oliver Syndrome 5 Adams-Oliver Syndrome 6

Diseases related to Adams-Oliver Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 39, show less)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 5 34.6 MIR4673 NOTCH1
2 aplasia cutis congenita 29.8 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
3 oliver syndrome 29.1 AOS ARHGAP31 DLL4 DOCK6 EOGT MIR4673
4 adams-oliver syndrome 1 12.8
5 adams-oliver syndrome 2 12.7
6 adams-oliver syndrome 3 12.7
7 adams-oliver syndrome 4 12.7
8 adams-oliver syndrome 6 12.6
9 aplasia cutis congenita, nonsyndromic 11.6
10 autosomal dominant deafness-onychodystrophy syndrome 11.2
11 cutis marmorata telangiectatica congenita 10.2
12 cataract 10.1
13 periventricular leukomalacia 10.1
14 epilepsy 10.1
15 cerebritis 10.1
16 leukomalacia 10.1
17 hepatoportal sclerosis 10.1
18 atrial standstill 1 10.0
19 septooptic dysplasia 10.0
20 moyamoya disease 1 10.0
21 leukemia, chronic myeloid 10.0
22 diabetes mellitus, ketosis-prone 10.0
23 pulmonary hypertension 10.0
24 dilated cardiomyopathy 10.0
25 leukemia 10.0
26 portal hypertension 10.0
27 microcephaly 10.0
28 hemiplegia 10.0
29 optic disk drusen 10.0
30 vascular disease 10.0
31 neuronitis 10.0
32 polymicrogyria 10.0
33 aortic coarctation 10.0
34 limb reduction defect 10.0
35 encephalopathy 10.0
36 ischemic retinopathy 10.0
37 walker-warburg syndrome 9.6 EOGT POMGNT2 ZC4H2
38 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.4 EGF NOTCH1
39 trehalase deficiency 9.0 CDC42 DOCK6 NOTCH1 UGT1A1 ZC4H2

Graphical network of the top 20 diseases related to Adams-Oliver Syndrome:



Diseases related to Adams-Oliver Syndrome

Symptoms & Phenotypes for Adams-Oliver Syndrome

Human phenotypes related to Adams-Oliver Syndrome:

59 32 (showing 49, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
2 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
3 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
4 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
5 cutis marmorata 59 32 hallmark (90%) Very frequent (99-80%) HP:0000965
6 aplasia cutis congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0001057
7 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
8 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
9 split hand 59 32 frequent (33%) Frequent (79-30%) HP:0001171
10 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
11 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
12 hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001269
13 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
14 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
15 portal hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001409
16 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
17 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
18 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
19 premature birth 59 32 occasional (7.5%) Occasional (29-5%) HP:0001622
20 tetralogy of fallot 59 32 frequent (33%) Frequent (79-30%) HP:0001636
21 hypoplastic fingernail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001804
22 absent fingernail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001817
23 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
24 leukopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001882
25 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
26 esophageal varix 59 32 occasional (7.5%) Occasional (29-5%) HP:0002040
27 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
28 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
29 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
30 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
31 congenital hepatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002612
32 absent hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0004050
33 pulmonary artery atresia 59 32 frequent (33%) Frequent (79-30%) HP:0004935
34 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
35 periventricular leukomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006970
36 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
37 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
38 aplastic/hypoplastic toenail 59 32 occasional (7.5%) Occasional (29-5%) HP:0010624
39 absent toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010760
40 arteriovenous malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0100026
41 skull defect 59 Very frequent (99-80%)
42 abnormality of the pulmonary valve 59 Frequent (79-30%)
43 porencephaly 59 Occasional (29-5%)
44 abnormality of the lower limb 59 Very frequent (99-80%)
45 abnormality of the upper limb 59 Very frequent (99-80%)
46 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
47 calvarial skull defect 32 hallmark (90%) HP:0001362
48 abnormal pulmonary valve morphology 32 frequent (33%) HP:0001641
49 porencephalic cyst 32 occasional (7.5%) HP:0002132

UMLS symptoms related to Adams-Oliver Syndrome:


seizures

Drugs & Therapeutics for Adams-Oliver Syndrome

Search Clinical Trials , NIH Clinical Center for Adams-Oliver Syndrome

Cochrane evidence based reviews: adams oliver syndrome

Genetic Tests for Adams-Oliver Syndrome

Genetic tests related to Adams-Oliver Syndrome:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 29

Anatomical Context for Adams-Oliver Syndrome

MalaCards organs/tissues related to Adams-Oliver Syndrome:

41
Skin, Heart, Bone, Brain, Eye

Publications for Adams-Oliver Syndrome

Articles related to Adams-Oliver Syndrome:

(showing 125, show less)
# Title Authors Year
1
Adams-Oliver Syndrome: Limited Expression. ( 29948730 )
2018
2
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. ( 29631299 )
2018
3
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. ( 29924900 )
2018
4
Adams Oliver syndrome with cerebellar cortical dysplasia. ( 29680918 )
2018
5
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ( 28706620 )
2017
6
A Case of Adams-Oliver Syndrome. ( 29387678 )
2017
7
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ( 29028653 )
2017
8
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ( 28598754 )
2017
9
Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases. ( 28287327 )
2017
10
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28839276 )
2017
11
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918 )
2017
12
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ( 28160419 )
2017
13
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28446798 )
2017
14
Adams-Oliver syndrome associated with gastrointestinal malformations. ( 27888223 )
2016
15
Adams-Oliver Syndrome: A Case with Full Expression. ( 27433307 )
2016
16
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ( 27178874 )
2016
17
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509 )
2015
18
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402 )
2015
19
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
20
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 25824905 )
2015
21
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
22
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069 )
2015
23
Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome. ( 25488668 )
2015
24
Adams Oliver Syndrome. ( 26244971 )
2015
25
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. ( 26299364 )
2015
26
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448 )
2014
27
Adams-Oliver syndrome. ( 24906278 )
2014
28
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416 )
2014
29
Adams-Oliver Syndrome: A Case Report. ( 25556654 )
2014
30
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817 )
2014
31
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819 )
2014
32
Adams-Oliver syndrome in a newborn infant. ( 24697559 )
2014
33
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
34
Adams-Oliver syndrome. ( 24320818 )
2013
35
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037 )
2013
36
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229 )
2013
37
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
38
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423 )
2013
39
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800 )
2013
40
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178 )
2013
41
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. ( 23613382 )
2013
42
Dilemmas and challenges in the management of a neonate with Adams-Oliver syndrome with infected giant aplasia cutis lesion and exsanguination: a case-based update. ( 23274636 )
2013
43
Peripheral ischemic retinopathy in Adams-Oliver syndrome. ( 22893088 )
2012
44
Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. ( 22514587 )
2012
45
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568 )
2012
46
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669 )
2012
47
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
48
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. ( 22883147 )
2012
49
Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype. ( 21785343 )
2011
50
[Adams-Oliver syndrome: case report]. ( 21626769 )
2011
51
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. ( 21820096 )
2011
52
Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. ( 21641251 )
2011
53
Two different management modalities in a two sibling case report of Adams Oliver syndrome. ( 22670005 )
2011
54
Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and management. ( 20560985 )
2010
55
Herniation of the brain after conservative treatment of a large congenital skull defect in an infant with Adams-Oliver syndrome. ( 20920732 )
2010
56
[The Adams-Oliver syndrome. A case report]. ( 20727808 )
2010
57
[Adams-Oliver syndrome: a case with minimal expression]. ( 20728324 )
2010
58
A case of adams-oliver syndrome. ( 20548894 )
2010
59
Adams Oliver syndrome in association with neurological deficit. ( 20406727 )
2010
60
A case of Adams-Oliver syndrome following in vitro fertilization. ( 19372146 )
2009
61
Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome. ( 19951037 )
2009
62
Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway. ( 19606482 )
2009
63
Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes. ( 19623038 )
2009
64
Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome. ( 19416763 )
2009
65
Adams Oliver syndrome--a variant. ( 19126012 )
2008
66
Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome. ( 18792979 )
2008
67
Aplasia cutis congenita of the scalp, skull and dura associated with Adams-Oliver syndrome. ( 18597236 )
2008
68
Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. ( 18203152 )
2008
69
Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome. ( 18924173 )
2008
70
Adams-Oliver syndrome: a sporadic occurrence with minimal disease expression. ( 18304170 )
2008
71
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome. ( 18478598 )
2008
72
Aplasia cutis associated with coarctation of the aorta: could this be an incomplete form of Adams-Oliver syndrome? ( 17711517 )
2007
73
Adams-Oliver syndrome: congenital disease with gait disorder: a case report. ( 17923061 )
2007
74
Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease. ( 18035989 )
2007
75
Adams-Oliver syndrome: further evidence of an autosomal recessive variant. ( 17551326 )
2007
76
Adams-Oliver syndrome and isolated aplasia cutis congenita in two siblings. ( 17083897 )
2006
77
Association of Adams-Oliver syndrome and hepatoportal sclerosis: an additional case. ( 16532468 )
2006
78
Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report. ( 16586236 )
2006
79
Adams-Oliver syndrome: a case with complete expression. ( 16700839 )
2006
80
Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes. ( 16451141 )
2006
81
Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism? ( 15832360 )
2005
82
Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis. ( 15948197 )
2005
83
A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology? ( 15372524 )
2004
84
Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. ( 15326631 )
2004
85
Clinical and molecular analysis of nine families with Adams-Oliver syndrome. ( 12774039 )
2003
86
Autosomal recessive type of Adams-Oliver syndrome: prenatal diagnosis. ( 12423491 )
2002
87
Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. ( 11446419 )
2001
88
Surgical treatment of aplasia cutis in the Adams-Oliver syndrome. ( 11711825 )
2001
89
Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome? ( 11050626 )
2000
90
A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation. ( 11233683 )
2000
91
An autopsy case of Adams-Oliver syndrome. ( 10983704 )
2000
92
Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. ( 10946361 )
2000
93
Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: report of two further cases. ( 10982487 )
2000
94
The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism. ( 10546102 )
1999
95
The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases. ( 10354089 )
1999
96
Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome. ( 10440839 )
1999
97
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome. ( 10440823 )
1999
98
Vascular abnormalities in Adams-Oliver syndrome: cause or effect? ( 9916843 )
1999
99
Adams-Oliver syndrome associated with cardiovascular malformations. ( 9823488 )
1998
100
Adams-Oliver syndrome: autosomal recessive inheritance and new phenotypic-anthropometric findings. ( 9788561 )
1998
101
Adams-Oliver syndrome with unusual central nervous system alterations. ( 9496805 )
1998
102
Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia. ( 9385961 )
1997
103
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome? ( 8849019 )
1995
104
Congenital cardiac malformations in Adams-Oliver syndrome. ( 7606848 )
1995
105
Adams-Oliver syndrome: aplasia cutis congenita, terminal transverse limb defects and cutis marmorata telangiectatica congenita. ( 7998895 )
1994
106
Adams Oliver syndrome: a family with extreme variability in clinical expression. ( 8160731 )
1994
107
Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothorax. ( 8291551 )
1993
108
Adams-Oliver Syndrome ( 27077170 )
1993
109
Near fatal haemorrhage from the superior sagittal sinus in Adams-Oliver syndrome. ( 8466256 )
1993
110
Adams-Oliver syndrome: cutis marmorata teleangiectatica congenita with multiple anomalies. ( 8219425 )
1993
111
Acrania: a manifestation of the Adams-Oliver syndrome. ( 1481809 )
1992
112
Congenital heart defect in a Japanese girl with Adams-Oliver syndrome: one of the most important complications. ( 1642283 )
1992
113
Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation. ( 1536190 )
1992
114
Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. ( 1390145 )
1992
115
Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literature. ( 1822137 )
1991
116
Adams-Oliver syndrome associated with congenital heart defect: not a coincidence. ( 1887843 )
1991
117
Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. ( 2012136 )
1991
118
Adams-Oliver syndrome revisited. ( 1951437 )
1991
119
Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases. ( 2161342 )
1990
120
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance. ( 2929669 )
1989
121
Limb defects with cutis marmorata teleangiectatica congenita: Adams-Oliver syndrome. ( 2610749 )
1989
122
Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. ( 3354597 )
1988
123
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. ( 3066221 )
1988
124
Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? ( 3354598 )
1988
125
Terminal transverse defects with aplasia cutis congenita (Adams-Oliver syndrome). ( 4041576 )
1985

Variations for Adams-Oliver Syndrome

ClinVar genetic disease variations for Adams-Oliver Syndrome:

6
(showing 280, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 EOGT NM_001278689.1(EOGT): c.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh37 Chromosome 3, 69037455: 69037455
2 EOGT NM_001278689.1(EOGT): c.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh38 Chromosome 3, 68988304: 68988304
3 DOCK6 NM_020812.3(DOCK6): c.1362_1365delAACT (p.Thr455Serfs) deletion Likely pathogenic rs730882238 GRCh37 Chromosome 19, 11353955: 11353958
4 DOCK6 NM_020812.3(DOCK6): c.1362_1365delAACT (p.Thr455Serfs) deletion Likely pathogenic rs730882238 GRCh38 Chromosome 19, 11243279: 11243282
5 ARHGAP31 NM_020754.3(ARHGAP31): c.1430C> T (p.Pro477Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200233879 GRCh37 Chromosome 3, 119121029: 119121029
6 ARHGAP31 NM_020754.3(ARHGAP31): c.1430C> T (p.Pro477Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200233879 GRCh38 Chromosome 3, 119402182: 119402182
7 ARHGAP31 NM_020754.3(ARHGAP31): c.2412G> A (p.Pro804=) single nucleotide variant Uncertain significance rs776194035 GRCh37 Chromosome 3, 119133188: 119133188
8 ARHGAP31 NM_020754.3(ARHGAP31): c.2412G> A (p.Pro804=) single nucleotide variant Uncertain significance rs776194035 GRCh38 Chromosome 3, 119414341: 119414341
9 ARHGAP31 NM_020754.3(ARHGAP31): c.820C> T (p.Pro274Ser) single nucleotide variant Benign/Likely benign rs139600783 GRCh37 Chromosome 3, 119109769: 119109769
10 ARHGAP31 NM_020754.3(ARHGAP31): c.820C> T (p.Pro274Ser) single nucleotide variant Benign/Likely benign rs139600783 GRCh38 Chromosome 3, 119390922: 119390922
11 DLL4 NM_019074.3(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh38 Chromosome 15, 40930649: 40930649
12 DLL4 NM_019074.3(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh37 Chromosome 15, 41222847: 41222847
13 DLL4 NM_019074.3(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh38 Chromosome 15, 40931664: 40931664
14 DLL4 NM_019074.3(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh37 Chromosome 15, 41223862: 41223862
15 DLL4 NM_019074.3(DLL4): c.583T> C (p.Phe195Leu) single nucleotide variant Pathogenic rs796065351 GRCh38 Chromosome 15, 40931691: 40931691
16 DLL4 NM_019074.3(DLL4): c.583T> C (p.Phe195Leu) single nucleotide variant Pathogenic rs796065351 GRCh37 Chromosome 15, 41223889: 41223889
17 DLL4 NM_019074.3(DLL4): c.799C> A (p.Pro267Thr) single nucleotide variant Pathogenic rs796065349 GRCh38 Chromosome 15, 40932396: 40932396
18 DLL4 NM_019074.3(DLL4): c.799C> A (p.Pro267Thr) single nucleotide variant Pathogenic rs796065349 GRCh37 Chromosome 15, 41224594: 41224594
19 DLL4 NM_019074.3(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh38 Chromosome 15, 40935045: 40935045
20 DLL4 NM_019074.3(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh37 Chromosome 15, 41227243: 41227243
21 DLL4 NM_019074.3(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh38 Chromosome 15, 40935046: 40935046
22 DLL4 NM_019074.3(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh37 Chromosome 15, 41227244: 41227244
23 DLL4 NM_019074.3(DLL4): c.1365C> G (p.Cys455Trp) single nucleotide variant Pathogenic rs796065345 GRCh38 Chromosome 15, 40936352: 40936352
24 DLL4 NM_019074.3(DLL4): c.1365C> G (p.Cys455Trp) single nucleotide variant Pathogenic rs796065345 GRCh37 Chromosome 15, 41228550: 41228550
25 DLL4 NM_019074.3(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh38 Chromosome 15, 40936647: 40936647
26 DLL4 NM_019074.3(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh37 Chromosome 15, 41228845: 41228845
27 DLL4 NM_019074.3(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh38 Chromosome 15, 40936659: 40936659
28 DLL4 NM_019074.3(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh37 Chromosome 15, 41228857: 41228857
29 ARHGAP31 NM_020754.3(ARHGAP31): c.349-7T> G single nucleotide variant Likely benign rs200397968 GRCh37 Chromosome 3, 119099744: 119099744
30 ARHGAP31 NM_020754.3(ARHGAP31): c.349-7T> G single nucleotide variant Likely benign rs200397968 GRCh38 Chromosome 3, 119380897: 119380897
31 ARHGAP31 NM_020754.3(ARHGAP31): c.936T> C (p.Arg312=) single nucleotide variant Benign/Likely benign rs200813566 GRCh37 Chromosome 3, 119112368: 119112368
32 ARHGAP31 NM_020754.3(ARHGAP31): c.936T> C (p.Arg312=) single nucleotide variant Benign/Likely benign rs200813566 GRCh38 Chromosome 3, 119393521: 119393521
33 ARHGAP31 NM_020754.3(ARHGAP31): c.4096G> A (p.Val1366Met) single nucleotide variant Benign/Likely benign rs3796360 GRCh37 Chromosome 3, 119134872: 119134872
34 ARHGAP31 NM_020754.3(ARHGAP31): c.4096G> A (p.Val1366Met) single nucleotide variant Benign/Likely benign rs3796360 GRCh38 Chromosome 3, 119416025: 119416025
35 ARHGAP31 NM_020754.3(ARHGAP31): c.1618A> G (p.Lys540Glu) single nucleotide variant Benign/Likely benign rs61744410 GRCh37 Chromosome 3, 119121217: 119121217
36 ARHGAP31 NM_020754.3(ARHGAP31): c.1618A> G (p.Lys540Glu) single nucleotide variant Benign/Likely benign rs61744410 GRCh38 Chromosome 3, 119402370: 119402370
37 ARHGAP31 NM_020754.3(ARHGAP31): c.435C> G (p.Thr145=) single nucleotide variant Conflicting interpretations of pathogenicity rs201927115 GRCh37 Chromosome 3, 119101142: 119101142
38 ARHGAP31 NM_020754.3(ARHGAP31): c.435C> G (p.Thr145=) single nucleotide variant Conflicting interpretations of pathogenicity rs201927115 GRCh38 Chromosome 3, 119382295: 119382295
39 ARHGAP31 NM_020754.3(ARHGAP31): c.-149G> A single nucleotide variant Likely benign rs62265186 GRCh37 Chromosome 3, 119013603: 119013603
40 ARHGAP31 NM_020754.3(ARHGAP31): c.-149G> A single nucleotide variant Likely benign rs62265186 GRCh38 Chromosome 3, 119294756: 119294756
41 ARHGAP31 NM_020754.3(ARHGAP31): c.203+6C> T single nucleotide variant Likely benign rs141911639 GRCh37 Chromosome 3, 119084271: 119084271
42 ARHGAP31 NM_020754.3(ARHGAP31): c.203+6C> T single nucleotide variant Likely benign rs141911639 GRCh38 Chromosome 3, 119365424: 119365424
43 ARHGAP31 NM_020754.3(ARHGAP31): c.384G> C (p.Leu128=) single nucleotide variant Likely benign rs150339878 GRCh37 Chromosome 3, 119099786: 119099786
44 ARHGAP31 NM_020754.3(ARHGAP31): c.384G> C (p.Leu128=) single nucleotide variant Likely benign rs150339878 GRCh38 Chromosome 3, 119380939: 119380939
45 ARHGAP31 NM_020754.3(ARHGAP31): c.436T> C (p.Leu146=) single nucleotide variant Uncertain significance rs758994452 GRCh37 Chromosome 3, 119101143: 119101143
46 ARHGAP31 NM_020754.3(ARHGAP31): c.436T> C (p.Leu146=) single nucleotide variant Uncertain significance rs758994452 GRCh38 Chromosome 3, 119382296: 119382296
47 ARHGAP31 NM_020754.3(ARHGAP31): c.1044C> T (p.Asp348=) single nucleotide variant Uncertain significance rs369521143 GRCh38 Chromosome 3, 119399236: 119399236
48 ARHGAP31 NM_020754.3(ARHGAP31): c.1044C> T (p.Asp348=) single nucleotide variant Uncertain significance rs369521143 GRCh37 Chromosome 3, 119118083: 119118083
49 ARHGAP31 NM_020754.3(ARHGAP31): c.1178A> G (p.Lys393Arg) single nucleotide variant Likely benign rs574813801 GRCh38 Chromosome 3, 119401930: 119401930
50 ARHGAP31 NM_020754.3(ARHGAP31): c.1178A> G (p.Lys393Arg) single nucleotide variant Likely benign rs574813801 GRCh37 Chromosome 3, 119120777: 119120777
51 ARHGAP31 NM_020754.3(ARHGAP31): c.1307G> A (p.Arg436Gln) single nucleotide variant Uncertain significance rs752035106 GRCh38 Chromosome 3, 119402059: 119402059
52 ARHGAP31 NM_020754.3(ARHGAP31): c.1307G> A (p.Arg436Gln) single nucleotide variant Uncertain significance rs752035106 GRCh37 Chromosome 3, 119120906: 119120906
53 ARHGAP31 NM_020754.3(ARHGAP31): c.1491C> A (p.Arg497=) single nucleotide variant Benign rs61747387 GRCh38 Chromosome 3, 119402243: 119402243
54 ARHGAP31 NM_020754.3(ARHGAP31): c.1491C> A (p.Arg497=) single nucleotide variant Benign rs61747387 GRCh37 Chromosome 3, 119121090: 119121090
55 ARHGAP31 NM_020754.3(ARHGAP31): c.1700C> T (p.Pro567Leu) single nucleotide variant Benign rs61744178 GRCh38 Chromosome 3, 119409550: 119409550
56 ARHGAP31 NM_020754.3(ARHGAP31): c.1700C> T (p.Pro567Leu) single nucleotide variant Benign rs61744178 GRCh37 Chromosome 3, 119128397: 119128397
57 ARHGAP31 NM_020754.3(ARHGAP31): c.1926+11T> C single nucleotide variant Benign rs1463138 GRCh38 Chromosome 3, 119409787: 119409787
58 ARHGAP31 NM_020754.3(ARHGAP31): c.1926+11T> C single nucleotide variant Benign rs1463138 GRCh37 Chromosome 3, 119128634: 119128634
59 ARHGAP31 NM_020754.3(ARHGAP31): c.2359C> T (p.Pro787Ser) single nucleotide variant Uncertain significance rs186621177 GRCh38 Chromosome 3, 119414288: 119414288
60 ARHGAP31 NM_020754.3(ARHGAP31): c.2359C> T (p.Pro787Ser) single nucleotide variant Uncertain significance rs186621177 GRCh37 Chromosome 3, 119133135: 119133135
61 ARHGAP31 NM_020754.3(ARHGAP31): c.2778G> A (p.Ala926=) single nucleotide variant Benign rs61740281 GRCh38 Chromosome 3, 119414707: 119414707
62 ARHGAP31 NM_020754.3(ARHGAP31): c.2778G> A (p.Ala926=) single nucleotide variant Benign rs61740281 GRCh37 Chromosome 3, 119133554: 119133554
63 ARHGAP31 NM_020754.3(ARHGAP31): c.3983G> A (p.Arg1328Gln) single nucleotide variant Likely benign rs199708581 GRCh38 Chromosome 3, 119415912: 119415912
64 ARHGAP31 NM_020754.3(ARHGAP31): c.3983G> A (p.Arg1328Gln) single nucleotide variant Likely benign rs199708581 GRCh37 Chromosome 3, 119134759: 119134759
65 ARHGAP31 NM_020754.3(ARHGAP31): c.*183A> G single nucleotide variant Uncertain significance rs886057804 GRCh38 Chromosome 3, 119416447: 119416447
66 ARHGAP31 NM_020754.3(ARHGAP31): c.*183A> G single nucleotide variant Uncertain significance rs886057804 GRCh37 Chromosome 3, 119135294: 119135294
67 ARHGAP31 NM_020754.3(ARHGAP31): c.*267C> T single nucleotide variant Likely benign rs3732415 GRCh38 Chromosome 3, 119416531: 119416531
68 ARHGAP31 NM_020754.3(ARHGAP31): c.*267C> T single nucleotide variant Likely benign rs3732415 GRCh37 Chromosome 3, 119135378: 119135378
69 ARHGAP31 NM_020754.3(ARHGAP31): c.*269A> G single nucleotide variant Benign rs74767080 GRCh38 Chromosome 3, 119416533: 119416533
70 ARHGAP31 NM_020754.3(ARHGAP31): c.*269A> G single nucleotide variant Benign rs74767080 GRCh37 Chromosome 3, 119135380: 119135380
71 ARHGAP31 NM_020754.3(ARHGAP31): c.*590C> T single nucleotide variant Likely benign rs145064712 GRCh38 Chromosome 3, 119416854: 119416854
72 ARHGAP31 NM_020754.3(ARHGAP31): c.*590C> T single nucleotide variant Likely benign rs145064712 GRCh37 Chromosome 3, 119135701: 119135701
73 ARHGAP31 NM_020754.3(ARHGAP31): c.*1311A> T single nucleotide variant Likely benign rs146808640 GRCh37 Chromosome 3, 119136422: 119136422
74 ARHGAP31 NM_020754.3(ARHGAP31): c.*1311A> T single nucleotide variant Likely benign rs146808640 GRCh38 Chromosome 3, 119417575: 119417575
75 ARHGAP31 NM_020754.3(ARHGAP31): c.*1373G> A single nucleotide variant Uncertain significance rs750355275 GRCh38 Chromosome 3, 119417637: 119417637
76 ARHGAP31 NM_020754.3(ARHGAP31): c.*1373G> A single nucleotide variant Uncertain significance rs750355275 GRCh37 Chromosome 3, 119136484: 119136484
77 ARHGAP31 NM_020754.3(ARHGAP31): c.*1386A> T single nucleotide variant Likely benign rs180781573 GRCh38 Chromosome 3, 119417650: 119417650
78 ARHGAP31 NM_020754.3(ARHGAP31): c.*1386A> T single nucleotide variant Likely benign rs180781573 GRCh37 Chromosome 3, 119136497: 119136497
79 ARHGAP31 NM_020754.3(ARHGAP31): c.*1657C> T single nucleotide variant Likely benign rs78943363 GRCh38 Chromosome 3, 119417921: 119417921
80 ARHGAP31 NM_020754.3(ARHGAP31): c.*1657C> T single nucleotide variant Likely benign rs78943363 GRCh37 Chromosome 3, 119136768: 119136768
81 ARHGAP31 NM_020754.3(ARHGAP31): c.*1811G> A single nucleotide variant Uncertain significance rs886057810 GRCh37 Chromosome 3, 119136922: 119136922
82 ARHGAP31 NM_020754.3(ARHGAP31): c.*1811G> A single nucleotide variant Uncertain significance rs886057810 GRCh38 Chromosome 3, 119418075: 119418075
83 ARHGAP31 NM_020754.3(ARHGAP31): c.*1987C> G single nucleotide variant Likely benign rs559362755 GRCh37 Chromosome 3, 119137098: 119137098
84 ARHGAP31 NM_020754.3(ARHGAP31): c.*1987C> G single nucleotide variant Likely benign rs559362755 GRCh38 Chromosome 3, 119418251: 119418251
85 ARHGAP31 NM_020754.3(ARHGAP31): c.*2110G> A single nucleotide variant Uncertain significance rs886057813 GRCh37 Chromosome 3, 119137221: 119137221
86 ARHGAP31 NM_020754.3(ARHGAP31): c.*2110G> A single nucleotide variant Uncertain significance rs886057813 GRCh38 Chromosome 3, 119418374: 119418374
87 ARHGAP31 NM_020754.3(ARHGAP31): c.*2192G> T single nucleotide variant Likely benign rs566368695 GRCh37 Chromosome 3, 119137303: 119137303
88 ARHGAP31 NM_020754.3(ARHGAP31): c.*2192G> T single nucleotide variant Likely benign rs566368695 GRCh38 Chromosome 3, 119418456: 119418456
89 ARHGAP31 NM_020754.3(ARHGAP31): c.*2471G> T single nucleotide variant Uncertain significance rs886057814 GRCh37 Chromosome 3, 119137582: 119137582
90 ARHGAP31 NM_020754.3(ARHGAP31): c.*2471G> T single nucleotide variant Uncertain significance rs886057814 GRCh38 Chromosome 3, 119418735: 119418735
91 ARHGAP31 NM_020754.3(ARHGAP31): c.*2743C> A single nucleotide variant Likely benign rs78013508 GRCh37 Chromosome 3, 119137854: 119137854
92 ARHGAP31 NM_020754.3(ARHGAP31): c.*2743C> A single nucleotide variant Likely benign rs78013508 GRCh38 Chromosome 3, 119419007: 119419007
93 ARHGAP31 NM_020754.3(ARHGAP31): c.*2744A> G single nucleotide variant Benign rs9289129 GRCh37 Chromosome 3, 119137855: 119137855
94 ARHGAP31 NM_020754.3(ARHGAP31): c.*2744A> G single nucleotide variant Benign rs9289129 GRCh38 Chromosome 3, 119419008: 119419008
95 ARHGAP31 NM_020754.3(ARHGAP31): c.*3013G> A single nucleotide variant Benign rs73857025 GRCh38 Chromosome 3, 119419277: 119419277
96 ARHGAP31 NM_020754.3(ARHGAP31): c.*3013G> A single nucleotide variant Benign rs73857025 GRCh37 Chromosome 3, 119138124: 119138124
97 ARHGAP31 NM_020754.3(ARHGAP31): c.-443C> G single nucleotide variant Uncertain significance rs886057792 GRCh38 Chromosome 3, 119294462: 119294462
98 ARHGAP31 NM_020754.3(ARHGAP31): c.-443C> G single nucleotide variant Uncertain significance rs886057792 GRCh37 Chromosome 3, 119013309: 119013309
99 ARHGAP31 NM_020754.3(ARHGAP31): c.-209C> T single nucleotide variant Uncertain significance rs886057794 GRCh37 Chromosome 3, 119013543: 119013543
100 ARHGAP31 NM_020754.3(ARHGAP31): c.-209C> T single nucleotide variant Uncertain significance rs886057794 GRCh38 Chromosome 3, 119294696: 119294696
101 ARHGAP31 NM_020754.3(ARHGAP31): c.-199C> T single nucleotide variant Uncertain significance rs886057795 GRCh37 Chromosome 3, 119013553: 119013553
102 ARHGAP31 NM_020754.3(ARHGAP31): c.-199C> T single nucleotide variant Uncertain significance rs886057795 GRCh38 Chromosome 3, 119294706: 119294706
103 ARHGAP31 NM_020754.3(ARHGAP31): c.-194G> A single nucleotide variant Benign rs4687994 GRCh37 Chromosome 3, 119013558: 119013558
104 ARHGAP31 NM_020754.3(ARHGAP31): c.-194G> A single nucleotide variant Benign rs4687994 GRCh38 Chromosome 3, 119294711: 119294711
105 ARHGAP31 NM_020754.3(ARHGAP31): c.-38C> A single nucleotide variant Benign rs72960626 GRCh37 Chromosome 3, 119013714: 119013714
106 ARHGAP31 NM_020754.3(ARHGAP31): c.-38C> A single nucleotide variant Benign rs72960626 GRCh38 Chromosome 3, 119294867: 119294867
107 ARHGAP31 NM_020754.3(ARHGAP31): c.349-9_349-7delTCT deletion Uncertain significance rs886057798 GRCh38 Chromosome 3, 119380895: 119380897
108 ARHGAP31 NM_020754.3(ARHGAP31): c.349-9_349-7delTCT deletion Uncertain significance rs886057798 GRCh37 Chromosome 3, 119099742: 119099744
109 ARHGAP31 NM_020754.3(ARHGAP31): c.848T> A (p.Leu283His) single nucleotide variant Uncertain significance rs773314411 GRCh38 Chromosome 3, 119390950: 119390950
110 ARHGAP31 NM_020754.3(ARHGAP31): c.848T> A (p.Leu283His) single nucleotide variant Uncertain significance rs773314411 GRCh37 Chromosome 3, 119109797: 119109797
111 ARHGAP31 NM_020754.3(ARHGAP31): c.2036C> T (p.Thr679Ile) single nucleotide variant Likely benign rs61736796 GRCh37 Chromosome 3, 119132812: 119132812
112 ARHGAP31 NM_020754.3(ARHGAP31): c.2036C> T (p.Thr679Ile) single nucleotide variant Likely benign rs61736796 GRCh38 Chromosome 3, 119413965: 119413965
113 ARHGAP31 NM_020754.3(ARHGAP31): c.2180C> T (p.Thr727Ile) single nucleotide variant Likely benign rs539048828 GRCh37 Chromosome 3, 119132956: 119132956
114 ARHGAP31 NM_020754.3(ARHGAP31): c.2180C> T (p.Thr727Ile) single nucleotide variant Likely benign rs539048828 GRCh38 Chromosome 3, 119414109: 119414109
115 ARHGAP31 NM_020754.3(ARHGAP31): c.2497C> T (p.Leu833Phe) single nucleotide variant Uncertain significance rs201970872 GRCh38 Chromosome 3, 119414426: 119414426
116 ARHGAP31 NM_020754.3(ARHGAP31): c.2497C> T (p.Leu833Phe) single nucleotide variant Uncertain significance rs201970872 GRCh37 Chromosome 3, 119133273: 119133273
117 ARHGAP31 NM_020754.3(ARHGAP31): c.2568G> A (p.Gly856=) single nucleotide variant Uncertain significance rs770529130 GRCh38 Chromosome 3, 119414497: 119414497
118 ARHGAP31 NM_020754.3(ARHGAP31): c.2568G> A (p.Gly856=) single nucleotide variant Uncertain significance rs770529130 GRCh37 Chromosome 3, 119133344: 119133344
119 ARHGAP31 NM_020754.3(ARHGAP31): c.2940A> G (p.Thr980=) single nucleotide variant Uncertain significance rs746965144 GRCh38 Chromosome 3, 119414869: 119414869
120 ARHGAP31 NM_020754.3(ARHGAP31): c.2940A> G (p.Thr980=) single nucleotide variant Uncertain significance rs746965144 GRCh37 Chromosome 3, 119133716: 119133716
121 ARHGAP31 NM_020754.3(ARHGAP31): c.3256G> A (p.Ala1086Thr) single nucleotide variant Benign rs61744168 GRCh38 Chromosome 3, 119415185: 119415185
122 ARHGAP31 NM_020754.3(ARHGAP31): c.3256G> A (p.Ala1086Thr) single nucleotide variant Benign rs61744168 GRCh37 Chromosome 3, 119134032: 119134032
123 ARHGAP31 NM_020754.3(ARHGAP31): c.3458A> G (p.Asp1153Gly) single nucleotide variant Likely benign rs184040818 GRCh38 Chromosome 3, 119415387: 119415387
124 ARHGAP31 NM_020754.3(ARHGAP31): c.3458A> G (p.Asp1153Gly) single nucleotide variant Likely benign rs184040818 GRCh37 Chromosome 3, 119134234: 119134234
125 ARHGAP31 NM_020754.3(ARHGAP31): c.3801C> T (p.Pro1267=) single nucleotide variant Likely benign rs200959673 GRCh38 Chromosome 3, 119415730: 119415730
126 ARHGAP31 NM_020754.3(ARHGAP31): c.3801C> T (p.Pro1267=) single nucleotide variant Likely benign rs200959673 GRCh37 Chromosome 3, 119134577: 119134577
127 ARHGAP31 NM_020754.3(ARHGAP31): c.3876A> G (p.Pro1292=) single nucleotide variant Uncertain significance rs886057802 GRCh38 Chromosome 3, 119415805: 119415805
128 ARHGAP31 NM_020754.3(ARHGAP31): c.3876A> G (p.Pro1292=) single nucleotide variant Uncertain significance rs886057802 GRCh37 Chromosome 3, 119134652: 119134652
129 ARHGAP31 NM_020754.3(ARHGAP31): c.4084C> G (p.Pro1362Ala) single nucleotide variant Uncertain significance rs376066861 GRCh38 Chromosome 3, 119416013: 119416013
130 ARHGAP31 NM_020754.3(ARHGAP31): c.4084C> G (p.Pro1362Ala) single nucleotide variant Uncertain significance rs376066861 GRCh37 Chromosome 3, 119134860: 119134860
131 ARHGAP31 NM_020754.3(ARHGAP31): c.4110G> A (p.Lys1370=) single nucleotide variant Likely benign rs76054211 GRCh38 Chromosome 3, 119416039: 119416039
132 ARHGAP31 NM_020754.3(ARHGAP31): c.4110G> A (p.Lys1370=) single nucleotide variant Likely benign rs76054211 GRCh37 Chromosome 3, 119134886: 119134886
133 ARHGAP31 NM_020754.3(ARHGAP31): c.*466C> T single nucleotide variant Likely benign rs116944967 GRCh38 Chromosome 3, 119416730: 119416730
134 ARHGAP31 NM_020754.3(ARHGAP31): c.*466C> T single nucleotide variant Likely benign rs116944967 GRCh37 Chromosome 3, 119135577: 119135577
135 ARHGAP31 NM_020754.3(ARHGAP31): c.*590C> G single nucleotide variant Benign rs145064712 GRCh38 Chromosome 3, 119416854: 119416854
136 ARHGAP31 NM_020754.3(ARHGAP31): c.*590C> G single nucleotide variant Benign rs145064712 GRCh37 Chromosome 3, 119135701: 119135701
137 ARHGAP31 NM_020754.3(ARHGAP31): c.*610T> A single nucleotide variant Uncertain significance rs779853850 GRCh38 Chromosome 3, 119416874: 119416874
138 ARHGAP31 NM_020754.3(ARHGAP31): c.*610T> A single nucleotide variant Uncertain significance rs779853850 GRCh37 Chromosome 3, 119135721: 119135721
139 ARHGAP31 NM_020754.3(ARHGAP31): c.*1089C> T single nucleotide variant Uncertain significance rs886057805 GRCh38 Chromosome 3, 119417353: 119417353
140 ARHGAP31 NM_020754.3(ARHGAP31): c.*1089C> T single nucleotide variant Uncertain significance rs886057805 GRCh37 Chromosome 3, 119136200: 119136200
141 ARHGAP31 NM_020754.3(ARHGAP31): c.*1219C> T single nucleotide variant Likely benign rs113918185 GRCh38 Chromosome 3, 119417483: 119417483
142 ARHGAP31 NM_020754.3(ARHGAP31): c.*1219C> T single nucleotide variant Likely benign rs113918185 GRCh37 Chromosome 3, 119136330: 119136330
143 ARHGAP31 NM_020754.3(ARHGAP31): c.*1238T> C single nucleotide variant Likely benign rs115845847 GRCh38 Chromosome 3, 119417502: 119417502
144 ARHGAP31 NM_020754.3(ARHGAP31): c.*1238T> C single nucleotide variant Likely benign rs115845847 GRCh37 Chromosome 3, 119136349: 119136349
145 ARHGAP31 NM_020754.3(ARHGAP31): c.*1648C> T single nucleotide variant Uncertain significance rs886057809 GRCh38 Chromosome 3, 119417912: 119417912
146 ARHGAP31 NM_020754.3(ARHGAP31): c.*1648C> T single nucleotide variant Uncertain significance rs886057809 GRCh37 Chromosome 3, 119136759: 119136759
147 ARHGAP31 NM_020754.3(ARHGAP31): c.*1978T> A single nucleotide variant Uncertain significance rs886057811 GRCh37 Chromosome 3, 119137089: 119137089
148 ARHGAP31 NM_020754.3(ARHGAP31): c.*1978T> A single nucleotide variant Uncertain significance rs886057811 GRCh38 Chromosome 3, 119418242: 119418242
149 ARHGAP31 NM_020754.3(ARHGAP31): c.*1995G> A single nucleotide variant Likely benign rs186689946 GRCh37 Chromosome 3, 119137106: 119137106
150 ARHGAP31 NM_020754.3(ARHGAP31): c.*1995G> A single nucleotide variant Likely benign rs186689946 GRCh38 Chromosome 3, 119418259: 119418259
151 ARHGAP31 NM_020754.3(ARHGAP31): c.*2173G> A single nucleotide variant Likely benign rs534303032 GRCh38 Chromosome 3, 119418437: 119418437
152 ARHGAP31 NM_020754.3(ARHGAP31): c.*2173G> A single nucleotide variant Likely benign rs534303032 GRCh37 Chromosome 3, 119137284: 119137284
153 ARHGAP31 NM_020754.3(ARHGAP31): c.*2689C> T single nucleotide variant Likely benign rs529808528 GRCh37 Chromosome 3, 119137800: 119137800
154 ARHGAP31 NM_020754.3(ARHGAP31): c.*2689C> T single nucleotide variant Likely benign rs529808528 GRCh38 Chromosome 3, 119418953: 119418953
155 ARHGAP31 NM_020754.3(ARHGAP31): c.*2693G> A single nucleotide variant Benign rs12494943 GRCh37 Chromosome 3, 119137804: 119137804
156 ARHGAP31 NM_020754.3(ARHGAP31): c.*2693G> A single nucleotide variant Benign rs12494943 GRCh38 Chromosome 3, 119418957: 119418957
157 ARHGAP31 NM_020754.3(ARHGAP31): c.*2764C> A single nucleotide variant Uncertain significance rs886057815 GRCh37 Chromosome 3, 119137875: 119137875
158 ARHGAP31 NM_020754.3(ARHGAP31): c.*2764C> A single nucleotide variant Uncertain significance rs886057815 GRCh38 Chromosome 3, 119419028: 119419028
159 ARHGAP31 NM_020754.3(ARHGAP31): c.*3021G> A single nucleotide variant Likely benign rs116075883 GRCh38 Chromosome 3, 119419285: 119419285
160 ARHGAP31 NM_020754.3(ARHGAP31): c.*3021G> A single nucleotide variant Likely benign rs116075883 GRCh37 Chromosome 3, 119138132: 119138132
161 ARHGAP31 NM_020754.3(ARHGAP31): c.*3123A> G single nucleotide variant Likely benign rs574039254 GRCh38 Chromosome 3, 119419387: 119419387
162 ARHGAP31 NM_020754.3(ARHGAP31): c.*3123A> G single nucleotide variant Likely benign rs574039254 GRCh37 Chromosome 3, 119138234: 119138234
163 ARHGAP31 NM_020754.3(ARHGAP31): c.-390G> C single nucleotide variant Uncertain significance rs886057793 GRCh38 Chromosome 3, 119294515: 119294515
164 ARHGAP31 NM_020754.3(ARHGAP31): c.-390G> C single nucleotide variant Uncertain significance rs886057793 GRCh37 Chromosome 3, 119013362: 119013362
165 ARHGAP31 NM_020754.3(ARHGAP31): c.432-7A> G single nucleotide variant Likely benign rs10049221 GRCh38 Chromosome 3, 119382285: 119382285
166 ARHGAP31 NM_020754.3(ARHGAP31): c.-295A> G single nucleotide variant Likely benign rs549187231 GRCh38 Chromosome 3, 119294610: 119294610
167 ARHGAP31 NM_020754.3(ARHGAP31): c.-295A> G single nucleotide variant Likely benign rs549187231 GRCh37 Chromosome 3, 119013457: 119013457
168 ARHGAP31 NM_020754.3(ARHGAP31): c.-105C> T single nucleotide variant Uncertain significance rs886057797 GRCh37 Chromosome 3, 119013647: 119013647
169 ARHGAP31 NM_020754.3(ARHGAP31): c.-105C> T single nucleotide variant Uncertain significance rs886057797 GRCh38 Chromosome 3, 119294800: 119294800
170 ARHGAP31 NM_020754.3(ARHGAP31): c.-40G> A single nucleotide variant Likely benign rs149723943 GRCh37 Chromosome 3, 119013712: 119013712
171 ARHGAP31 NM_020754.3(ARHGAP31): c.-40G> A single nucleotide variant Likely benign rs149723943 GRCh38 Chromosome 3, 119294865: 119294865
172 ARHGAP31 NM_020754.3(ARHGAP31): c.100+9C> T single nucleotide variant Likely benign rs76783588 GRCh37 Chromosome 3, 119013860: 119013860
173 ARHGAP31 NM_020754.3(ARHGAP31): c.100+9C> T single nucleotide variant Likely benign rs76783588 GRCh38 Chromosome 3, 119295013: 119295013
174 ARHGAP31 NM_020754.3(ARHGAP31): c.432-7A> G single nucleotide variant Likely benign rs10049221 GRCh37 Chromosome 3, 119101132: 119101132
175 ARHGAP31 NM_020754.3(ARHGAP31): c.473C> T (p.Ser158Phe) single nucleotide variant Uncertain significance rs779651681 GRCh37 Chromosome 3, 119101180: 119101180
176 ARHGAP31 NM_020754.3(ARHGAP31): c.473C> T (p.Ser158Phe) single nucleotide variant Uncertain significance rs779651681 GRCh38 Chromosome 3, 119382333: 119382333
177 ARHGAP31 NM_020754.3(ARHGAP31): c.843C> T (p.Gly281=) single nucleotide variant Uncertain significance rs886057799 GRCh38 Chromosome 3, 119390945: 119390945
178 ARHGAP31 NM_020754.3(ARHGAP31): c.843C> T (p.Gly281=) single nucleotide variant Uncertain significance rs886057799 GRCh37 Chromosome 3, 119109792: 119109792
179 ARHGAP31 NM_020754.3(ARHGAP31): c.881+7G> A single nucleotide variant Benign rs78837524 GRCh38 Chromosome 3, 119390990: 119390990
180 ARHGAP31 NM_020754.3(ARHGAP31): c.881+7G> A single nucleotide variant Benign rs78837524 GRCh37 Chromosome 3, 119109837: 119109837
181 ARHGAP31 NM_020754.3(ARHGAP31): c.1533A> G (p.Thr511=) single nucleotide variant Benign rs77678258 GRCh38 Chromosome 3, 119402285: 119402285
182 ARHGAP31 NM_020754.3(ARHGAP31): c.1533A> G (p.Thr511=) single nucleotide variant Benign rs77678258 GRCh37 Chromosome 3, 119121132: 119121132
183 ARHGAP31 NM_020754.3(ARHGAP31): c.1538C> T (p.Pro513Leu) single nucleotide variant Uncertain significance rs886057800 GRCh38 Chromosome 3, 119402290: 119402290
184 ARHGAP31 NM_020754.3(ARHGAP31): c.1538C> T (p.Pro513Leu) single nucleotide variant Uncertain significance rs886057800 GRCh37 Chromosome 3, 119121137: 119121137
185 ARHGAP31 NM_020754.3(ARHGAP31): c.1701G> A (p.Pro567=) single nucleotide variant Benign rs2305249 GRCh38 Chromosome 3, 119409551: 119409551
186 ARHGAP31 NM_020754.3(ARHGAP31): c.1701G> A (p.Pro567=) single nucleotide variant Benign rs2305249 GRCh37 Chromosome 3, 119128398: 119128398
187 ARHGAP31 NM_020754.3(ARHGAP31): c.1926+13C> A single nucleotide variant Likely benign rs140274779 GRCh38 Chromosome 3, 119409789: 119409789
188 ARHGAP31 NM_020754.3(ARHGAP31): c.1926+13C> A single nucleotide variant Likely benign rs140274779 GRCh37 Chromosome 3, 119128636: 119128636
189 ARHGAP31 NM_020754.3(ARHGAP31): c.2359C> G (p.Pro787Ala) single nucleotide variant Likely benign rs186621177 GRCh38 Chromosome 3, 119414288: 119414288
190 ARHGAP31 NM_020754.3(ARHGAP31): c.2359C> G (p.Pro787Ala) single nucleotide variant Likely benign rs186621177 GRCh37 Chromosome 3, 119133135: 119133135
191 ARHGAP31 NM_020754.3(ARHGAP31): c.2777C> T (p.Ala926Val) single nucleotide variant Uncertain significance rs771980065 GRCh38 Chromosome 3, 119414706: 119414706
192 ARHGAP31 NM_020754.3(ARHGAP31): c.2777C> T (p.Ala926Val) single nucleotide variant Uncertain significance rs771980065 GRCh37 Chromosome 3, 119133553: 119133553
193 ARHGAP31 NM_020754.3(ARHGAP31): c.3104C> T (p.Thr1035Ile) single nucleotide variant Likely benign rs201997376 GRCh38 Chromosome 3, 119415033: 119415033
194 ARHGAP31 NM_020754.3(ARHGAP31): c.3104C> T (p.Thr1035Ile) single nucleotide variant Likely benign rs201997376 GRCh37 Chromosome 3, 119133880: 119133880
195 ARHGAP31 NM_020754.3(ARHGAP31): c.3179G> A (p.Gly1060Asp) single nucleotide variant Uncertain significance rs886057801 GRCh37 Chromosome 3, 119133955: 119133955
196 ARHGAP31 NM_020754.3(ARHGAP31): c.3179G> A (p.Gly1060Asp) single nucleotide variant Uncertain significance rs886057801 GRCh38 Chromosome 3, 119415108: 119415108
197 ARHGAP31 NM_020754.3(ARHGAP31): c.3802G> A (p.Gly1268Arg) single nucleotide variant Likely benign rs149658506 GRCh38 Chromosome 3, 119415731: 119415731
198 ARHGAP31 NM_020754.3(ARHGAP31): c.3802G> A (p.Gly1268Arg) single nucleotide variant Likely benign rs149658506 GRCh37 Chromosome 3, 119134578: 119134578
199 ARHGAP31 NM_020754.3(ARHGAP31): c.3953G> T (p.Gly1318Val) single nucleotide variant Likely benign rs529703977 GRCh38 Chromosome 3, 119415882: 119415882
200 ARHGAP31 NM_020754.3(ARHGAP31): c.3953G> T (p.Gly1318Val) single nucleotide variant Likely benign rs529703977 GRCh37 Chromosome 3, 119134729: 119134729
201 ARHGAP31 NM_020754.3(ARHGAP31): c.*38T> G single nucleotide variant Uncertain significance rs886057803 GRCh38 Chromosome 3, 119416302: 119416302
202 ARHGAP31 NM_020754.3(ARHGAP31): c.*38T> G single nucleotide variant Uncertain significance rs886057803 GRCh37 Chromosome 3, 119135149: 119135149
203 ARHGAP31 NM_020754.3(ARHGAP31): c.*737A> G single nucleotide variant Uncertain significance rs185158937 GRCh38 Chromosome 3, 119417001: 119417001
204 ARHGAP31 NM_020754.3(ARHGAP31): c.*737A> G single nucleotide variant Uncertain significance rs185158937 GRCh37 Chromosome 3, 119135848: 119135848
205 ARHGAP31 NM_020754.3(ARHGAP31): c.*1156C> G single nucleotide variant Likely benign rs115630304 GRCh38 Chromosome 3, 119417420: 119417420
206 ARHGAP31 NM_020754.3(ARHGAP31): c.*1156C> G single nucleotide variant Likely benign rs115630304 GRCh37 Chromosome 3, 119136267: 119136267
207 ARHGAP31 NM_020754.3(ARHGAP31): c.*1186A> G single nucleotide variant Uncertain significance rs886057806 GRCh38 Chromosome 3, 119417450: 119417450
208 ARHGAP31 NM_020754.3(ARHGAP31): c.*1186A> G single nucleotide variant Uncertain significance rs886057806 GRCh37 Chromosome 3, 119136297: 119136297
209 ARHGAP31 NM_020754.3(ARHGAP31): c.*1233A> G single nucleotide variant Uncertain significance rs886057807 GRCh38 Chromosome 3, 119417497: 119417497
210 ARHGAP31 NM_020754.3(ARHGAP31): c.*1233A> G single nucleotide variant Uncertain significance rs886057807 GRCh37 Chromosome 3, 119136344: 119136344
211 ARHGAP31 NM_020754.3(ARHGAP31): c.*2178C> T single nucleotide variant Uncertain significance rs770268525 GRCh37 Chromosome 3, 119137289: 119137289
212 ARHGAP31 NM_020754.3(ARHGAP31): c.*2178C> T single nucleotide variant Uncertain significance rs770268525 GRCh38 Chromosome 3, 119418442: 119418442
213 ARHGAP31 NM_020754.3(ARHGAP31): c.*2281C> G single nucleotide variant Likely benign rs183825811 GRCh37 Chromosome 3, 119137392: 119137392
214 ARHGAP31 NM_020754.3(ARHGAP31): c.*2281C> G single nucleotide variant Likely benign rs183825811 GRCh38 Chromosome 3, 119418545: 119418545
215 ARHGAP31 NM_020754.3(ARHGAP31): c.*2842T> C single nucleotide variant Likely benign rs147003993 GRCh37 Chromosome 3, 119137953: 119137953
216 ARHGAP31 NM_020754.3(ARHGAP31): c.*2842T> C single nucleotide variant Likely benign rs147003993 GRCh38 Chromosome 3, 119419106: 119419106
217 ARHGAP31 NM_020754.3(ARHGAP31): c.-369G> A single nucleotide variant Likely benign rs548441120 GRCh38 Chromosome 3, 119294536: 119294536
218 ARHGAP31 NM_020754.3(ARHGAP31): c.-369G> A single nucleotide variant Likely benign rs548441120 GRCh37 Chromosome 3, 119013383: 119013383
219 ARHGAP31 NM_020754.3(ARHGAP31): c.*2912A> G single nucleotide variant Uncertain significance rs886057816 GRCh37 Chromosome 3, 119138023: 119138023
220 ARHGAP31 NM_020754.3(ARHGAP31): c.*2912A> G single nucleotide variant Uncertain significance rs886057816 GRCh38 Chromosome 3, 119419176: 119419176
221 ARHGAP31 NM_020754.3(ARHGAP31): c.*3166C> G single nucleotide variant Likely benign rs138144745 GRCh38 Chromosome 3, 119419430: 119419430
222 ARHGAP31 NM_020754.3(ARHGAP31): c.*3166C> G single nucleotide variant Likely benign rs138144745 GRCh37 Chromosome 3, 119138277: 119138277
223 ARHGAP31 NM_020754.3(ARHGAP31): c.-165_-159dupCCCGCGG duplication Uncertain significance rs886057796 GRCh37 Chromosome 3, 119013587: 119013593
224 ARHGAP31 NM_020754.3(ARHGAP31): c.-165_-159dupCCCGCGG duplication Uncertain significance rs886057796 GRCh38 Chromosome 3, 119294740: 119294746
225 ARHGAP31 NM_020754.3(ARHGAP31): c.540-6C> T single nucleotide variant Benign rs16829782 GRCh37 Chromosome 3, 119101925: 119101925
226 ARHGAP31 NM_020754.3(ARHGAP31): c.540-6C> T single nucleotide variant Benign rs16829782 GRCh38 Chromosome 3, 119383078: 119383078
227 ARHGAP31 NM_020754.3(ARHGAP31): c.662C> T (p.Pro221Leu) single nucleotide variant Likely benign rs751793 GRCh38 Chromosome 3, 119383206: 119383206
228 ARHGAP31 NM_020754.3(ARHGAP31): c.662C> T (p.Pro221Leu) single nucleotide variant Likely benign rs751793 GRCh37 Chromosome 3, 119102053: 119102053
229 ARHGAP31 NM_020754.3(ARHGAP31): c.1065G= (p.Val355=) single nucleotide variant Benign rs4688001 GRCh38 Chromosome 3, 119399257: 119399257
230 ARHGAP31 NM_020754.3(ARHGAP31): c.1065G= (p.Val355=) single nucleotide variant Benign rs4688001 GRCh37 Chromosome 3, 119118104: 119118104
231 ARHGAP31 NM_020754.3(ARHGAP31): c.1184A> G (p.Glu395Gly) single nucleotide variant Uncertain significance rs760929413 GRCh38 Chromosome 3, 119401936: 119401936
232 ARHGAP31 NM_020754.3(ARHGAP31): c.1184A> G (p.Glu395Gly) single nucleotide variant Uncertain significance rs760929413 GRCh37 Chromosome 3, 119120783: 119120783
233 ARHGAP31 NM_020754.3(ARHGAP31): c.1371G> T (p.Ser457=) single nucleotide variant Uncertain significance rs753753846 GRCh38 Chromosome 3, 119402123: 119402123
234 ARHGAP31 NM_020754.3(ARHGAP31): c.1371G> T (p.Ser457=) single nucleotide variant Uncertain significance rs753753846 GRCh37 Chromosome 3, 119120970: 119120970
235 ARHGAP31 NM_020754.3(ARHGAP31): c.1614A> G (p.Glu538=) single nucleotide variant Benign rs61744411 GRCh38 Chromosome 3, 119402366: 119402366
236 ARHGAP31 NM_020754.3(ARHGAP31): c.1614A> G (p.Glu538=) single nucleotide variant Benign rs61744411 GRCh37 Chromosome 3, 119121213: 119121213
237 ARHGAP31 NM_020754.3(ARHGAP31): c.1823C> T (p.Pro608Leu) single nucleotide variant Uncertain significance rs773084870 GRCh38 Chromosome 3, 119409673: 119409673
238 ARHGAP31 NM_020754.3(ARHGAP31): c.1823C> T (p.Pro608Leu) single nucleotide variant Uncertain significance rs773084870 GRCh37 Chromosome 3, 119128520: 119128520
239 ARHGAP31 NM_020754.3(ARHGAP31): c.1926+5A> G single nucleotide variant Benign rs1463139 GRCh38 Chromosome 3, 119409781: 119409781
240 ARHGAP31 NM_020754.3(ARHGAP31): c.1926+5A> G single nucleotide variant Benign rs1463139 GRCh37 Chromosome 3, 119128628: 119128628
241 ARHGAP31 NM_020754.3(ARHGAP31): c.2407G> A (p.Gly803Ser) single nucleotide variant Benign rs3732413 GRCh38 Chromosome 3, 119414336: 119414336
242 ARHGAP31 NM_020754.3(ARHGAP31): c.2407G> A (p.Gly803Ser) single nucleotide variant Benign rs3732413 GRCh37 Chromosome 3, 119133183: 119133183
243 ARHGAP31 NM_020754.3(ARHGAP31): c.2814G> T (p.Gln938His) single nucleotide variant Likely benign rs201519258 GRCh38 Chromosome 3, 119414743: 119414743
244 ARHGAP31 NM_020754.3(ARHGAP31): c.2814G> T (p.Gln938His) single nucleotide variant Likely benign rs201519258 GRCh37 Chromosome 3, 119133590: 119133590
245 ARHGAP31 NM_020754.3(ARHGAP31): c.3615C> T (p.Pro1205=) single nucleotide variant Benign rs3732414 GRCh38 Chromosome 3, 119415544: 119415544
246 ARHGAP31 NM_020754.3(ARHGAP31): c.3615C> T (p.Pro1205=) single nucleotide variant Benign rs3732414 GRCh37 Chromosome 3, 119134391: 119134391
247 ARHGAP31 NM_020754.3(ARHGAP31): c.4132A> G (p.Ser1378Gly) single nucleotide variant Likely benign rs193198313 GRCh38 Chromosome 3, 119416061: 119416061
248 ARHGAP31 NM_020754.3(ARHGAP31): c.4132A> G (p.Ser1378Gly) single nucleotide variant Likely benign rs193198313 GRCh37 Chromosome 3, 119134908: 119134908
249 ARHGAP31 NM_020754.3(ARHGAP31): c.*105T> C single nucleotide variant Likely benign rs185124298 GRCh38 Chromosome 3, 119416369: 119416369
250 ARHGAP31 NM_020754.3(ARHGAP31): c.*105T> C single nucleotide variant Likely benign rs185124298 GRCh37 Chromosome 3, 119135216: 119135216
251 ARHGAP31 NM_020754.3(ARHGAP31): c.*985_*986insC insertion Benign rs11391882 GRCh38 Chromosome 3, 119417249: 119417250
252 ARHGAP31 NM_020754.3(ARHGAP31): c.*985_*986insC insertion Benign rs11391882 GRCh37 Chromosome 3, 119136096: 119136097
253 ARHGAP31 NM_020754.3(ARHGAP31): c.*1126A> T single nucleotide variant Likely benign rs116466342 GRCh38 Chromosome 3, 119417390: 119417390
254 ARHGAP31 NM_020754.3(ARHGAP31): c.*1126A> T single nucleotide variant Likely benign rs116466342 GRCh37 Chromosome 3, 119136237: 119136237
255 ARHGAP31 NM_020754.3(ARHGAP31): c.*1176T> G single nucleotide variant Likely benign rs114261128 GRCh37 Chromosome 3, 119136287: 119136287
256 ARHGAP31 NM_020754.3(ARHGAP31): c.*1176T> G single nucleotide variant Likely benign rs114261128 GRCh38 Chromosome 3, 119417440: 119417440
257 ARHGAP31 NM_020754.3(ARHGAP31): c.*1391_*1394delCTCA deletion Likely benign rs886057808 GRCh38 Chromosome 3, 119417655: 119417658
258 ARHGAP31 NM_020754.3(ARHGAP31): c.*1391_*1394delCTCA deletion Likely benign rs886057808 GRCh37 Chromosome 3, 119136502: 119136505
259 ARHGAP31 NM_020754.3(ARHGAP31): c.*1533T> C single nucleotide variant Likely benign rs567101775 GRCh38 Chromosome 3, 119417797: 119417797
260 ARHGAP31 NM_020754.3(ARHGAP31): c.*1533T> C single nucleotide variant Likely benign rs567101775 GRCh37 Chromosome 3, 119136644: 119136644
261 ARHGAP31 NM_020754.3(ARHGAP31): c.*1692G> T single nucleotide variant Likely benign rs76616804 GRCh38 Chromosome 3, 119417956: 119417956
262 ARHGAP31 NM_020754.3(ARHGAP31): c.*1692G> T single nucleotide variant Likely benign rs76616804 GRCh37 Chromosome 3, 119136803: 119136803
263 ARHGAP31 NM_020754.3(ARHGAP31): c.*1712T> C single nucleotide variant Benign rs72968497 GRCh38 Chromosome 3, 119417976: 119417976
264 ARHGAP31 NM_020754.3(ARHGAP31): c.*1712T> C single nucleotide variant Benign rs72968497 GRCh37 Chromosome 3, 119136823: 119136823
265 ARHGAP31 NM_020754.3(ARHGAP31): c.*2051C> A single nucleotide variant Likely benign rs74665630 GRCh37 Chromosome 3, 119137162: 119137162
266 ARHGAP31 NM_020754.3(ARHGAP31): c.*2051C> A single nucleotide variant Likely benign rs74665630 GRCh38 Chromosome 3, 119418315: 119418315
267 ARHGAP31 NM_020754.3(ARHGAP31): c.*2101A> T single nucleotide variant Uncertain significance rs886057812 GRCh38 Chromosome 3, 119418365: 119418365
268 ARHGAP31 NM_020754.3(ARHGAP31): c.*2101A> T single nucleotide variant Uncertain significance rs886057812 GRCh37 Chromosome 3, 119137212: 119137212
269 ARHGAP31 NM_020754.3(ARHGAP31): c.*2355A> G single nucleotide variant Benign rs12631504 GRCh37 Chromosome 3, 119137466: 119137466
270 ARHGAP31 NM_020754.3(ARHGAP31): c.*2355A> G single nucleotide variant Benign rs12631504 GRCh38 Chromosome 3, 119418619: 119418619
271 ARHGAP31 NM_020754.3(ARHGAP31): c.*2802G> A single nucleotide variant Likely benign rs77420174 GRCh38 Chromosome 3, 119419066: 119419066
272 ARHGAP31 NM_020754.3(ARHGAP31): c.*2743C> G single nucleotide variant Uncertain significance rs78013508 GRCh37 Chromosome 3, 119137854: 119137854
273 ARHGAP31 NM_020754.3(ARHGAP31): c.*2743C> G single nucleotide variant Uncertain significance rs78013508 GRCh38 Chromosome 3, 119419007: 119419007
274 ARHGAP31 NM_020754.3(ARHGAP31): c.*2801C> T single nucleotide variant Benign rs12495539 GRCh37 Chromosome 3, 119137912: 119137912
275 ARHGAP31 NM_020754.3(ARHGAP31): c.*2801C> T single nucleotide variant Benign rs12495539 GRCh38 Chromosome 3, 119419065: 119419065
276 ARHGAP31 NM_020754.3(ARHGAP31): c.*2802G> A single nucleotide variant Likely benign rs77420174 GRCh37 Chromosome 3, 119137913: 119137913
277 ARHGAP31 NM_020754.3(ARHGAP31): c.*2935C> T single nucleotide variant Uncertain significance rs886057817 GRCh37 Chromosome 3, 119138046: 119138046
278 ARHGAP31 NM_020754.3(ARHGAP31): c.*2935C> T single nucleotide variant Uncertain significance rs886057817 GRCh38 Chromosome 3, 119419199: 119419199
279 DOCK6 NM_020812.3(DOCK6): c.4576C> T (p.Arg1526Ter) single nucleotide variant Likely pathogenic rs374530179 GRCh37 Chromosome 19, 11322743: 11322743
280 DOCK6 NM_020812.3(DOCK6): c.4576C> T (p.Arg1526Ter) single nucleotide variant Likely pathogenic rs374530179 GRCh38 Chromosome 19, 11212067: 11212067

Expression for Adams-Oliver Syndrome

Search GEO for disease gene expression data for Adams-Oliver Syndrome.

Pathways for Adams-Oliver Syndrome

Pathways related to Adams-Oliver Syndrome according to KEGG:

37 (showing 1, show less)
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

GO Terms for Adams-Oliver Syndrome

Cellular components related to Adams-Oliver Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 NOTCH1 RBPJ

Biological processes related to Adams-Oliver Syndrome according to GeneCards Suite gene sharing:

(showing 27, show less)
# Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 9.79 ARHGAP31 CDC42 DOCK6
2 Notch signaling pathway GO:0007219 9.78 DLL4 NOTCH1 RBPJ
3 protein O-linked glycosylation GO:0006493 9.69 EOGT OGT POMGNT2
4 positive regulation of Notch signaling pathway GO:0045747 9.65 DLL4 NOTCH1 RBPJ
5 regulation of neurogenesis GO:0050767 9.63 DLL4 NOTCH1
6 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.63 DLL4 NOTCH1
7 negative regulation of ossification GO:0030279 9.62 NOTCH1 RBPJ
8 positive regulation of transcription of Notch receptor target GO:0007221 9.62 NOTCH1 RBPJ
9 inflammatory response to antigenic stimulus GO:0002437 9.6 NOTCH1 RBPJ
10 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.58 NOTCH1 RBPJ
11 cardiac left ventricle morphogenesis GO:0003214 9.58 NOTCH1 RBPJ
12 cardiac ventricle morphogenesis GO:0003208 9.57 DLL4 NOTCH1
13 pericardium morphogenesis GO:0003344 9.56 DLL4 NOTCH1
14 dorsal aorta morphogenesis GO:0035912 9.55 DLL4 RBPJ
15 angiogenesis GO:0001525 9.55 DLL4 EGF LAMA5 NOTCH1 RBPJ
16 cardiac atrium morphogenesis GO:0003209 9.54 DLL4 NOTCH1
17 branching morphogenesis of an epithelial tube GO:0048754 9.54 EGF LAMA5 NOTCH1
18 interleukin-4 secretion GO:0072602 9.52 NOTCH1 RBPJ
19 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.49 NOTCH1 RBPJ
20 endocardium development GO:0003157 9.46 NOTCH1 RBPJ
21 auditory receptor cell fate commitment GO:0009912 9.43 NOTCH1 RBPJ
22 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.4 NOTCH1 RBPJ
23 endocardium morphogenesis GO:0003160 9.32 NOTCH1 RBPJ
24 blood vessel lumenization GO:0072554 9.26 DLL4 RBPJ
25 ventricular trabecula myocardium morphogenesis GO:0003222 9.13 DLL4 NOTCH1 RBPJ
26 Notch signaling involved in heart development GO:0061314 8.8 DLL4 NOTCH1 RBPJ
27 cell differentiation GO:0030154 10.07 CDC42 DLL4 LAMA5 NELL1 NOTCH1 ZC4H2

Molecular functions related to Adams-Oliver Syndrome according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.46 EOGT OGT POMGNT2 UGT1A1
2 Notch binding GO:0005112 9.26 DLL4 NOTCH1
3 protein N-acetylglucosaminyltransferase activity GO:0016262 8.96 EOGT OGT
4 protein O-GlcNAc transferase activity GO:0097363 8.62 OGT POMGNT2

Sources for Adams-Oliver Syndrome

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