MCID: RBN002
MIFTS: 47

Robinow Syndrome

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

Aliases & Classifications for Robinow Syndrome

MalaCards integrated aliases for Robinow Syndrome:

Name: Robinow Syndrome 12 76 53 25 59 37 29 55 6 15
Acral Dysostosis with Facial and Genital Abnormalities 12 53 25 59
Fetal Face Syndrome 12 53 25 59
Robinow Dwarfism 12 53 25 59
Mesomelic Dwarfism-Small Genitalia Syndrome 25 59
Robinow-Silverman-Smith Syndrome 25 59
Robinow Syndrome, Autosomal Dominant 44
Robinow-Silverman Syndrome 25
Robinow's Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
robinow syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060254
ICD10 33 Q87.1
MeSH 44 C562492
NCIt 50 C85048
SNOMED-CT 68 76520005
Orphanet 59 ORPHA97360
UMLS via Orphanet 74 C0265205
ICD10 via Orphanet 34 Q87.1
KEGG 37 H00485
UMLS 73 C0265205

Summaries for Robinow Syndrome

NIH Rare Diseases : 53 Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. This form is caused by mutations in the ROR2 gene.Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene. In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.

MalaCards based summary : Robinow Syndrome, also known as acral dysostosis with facial and genital abnormalities, is related to robinow syndrome, autosomal dominant 1 and autosomal dominant robinow syndrome. An important gene associated with Robinow Syndrome is WNT5A (Wnt Family Member 5A), and among its related pathways/superpathways are Wnt signaling pathway and Pathways in cancer. The drugs Pembrolizumab and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are growth/size/body region and limbs/digits/tail

Genetics Home Reference : 25 Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton. The types of Robinow syndrome can be distinguished by the severity of their signs and symptoms and by their pattern of inheritance: autosomal recessive or autosomal dominant.

Disease Ontology : 12 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.

Wikipedia : 76 Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism,... more...

Related Diseases for Robinow Syndrome

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 1 Robinow Syndrome, Autosomal Recessive
Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 3
Autosomal Dominant Robinow Syndrome Ror2-Related Robinow Syndrome
Robinow-Like Syndrome

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

(showing 33, show less)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal dominant 1 34.6 DVL3 WNT5A
2 autosomal dominant robinow syndrome 33.9 DVL1 DVL3 ROR2 WNT5A
3 robinow syndrome, autosomal recessive 30.6 BCL2A1 HPSE INHA LMBR1 MRRF PLEKHG4
4 robinow syndrome, autosomal dominant 3 12.3
5 robinow syndrome, autosomal dominant 2 12.3
6 ror2-related robinow syndrome 12.0
7 robinow-like syndrome 10.9
8 pituitary infarct 10.8 GNRH1 IGF1
9 central precocious puberty 10.7 GNRH1 IGF1
10 anovulation 10.6 CGA GNRH1 IGF1
11 ovarian disease 10.5 CGA GNRH1 IGF1
12 israeli tick typhus 10.5 HPSE PLEKHG4
13 amelogenesis imperfecta, type ig 10.4 LMBR1 PTCHD3
14 empty sella syndrome 10.4 GNRH1 IGF1
15 penis agenesis 10.2 CGA GNRH1
16 brachydactyly 10.2
17 brachydactyly, type b1 10.1
18 heart disease 10.0
19 dwarfism 10.0
20 pfeiffer syndrome 9.8
21 omodysplasia 2 9.8
22 omodysplasia 9.8
23 inguinal hernia 9.8
24 respiratory failure 9.8
25 hyperostosis 9.8
26 vaginitis 9.8
27 cockayne syndrome 9.8
28 cystic kidney disease 9.8
29 laryngitis 9.8
30 kidney disease 9.8
31 growth hormone deficiency 9.8
32 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 9.8
33 vaginal atresia 9.8

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



Diseases related to Robinow Syndrome

Symptoms & Phenotypes for Robinow Syndrome

MGI Mouse Phenotypes related to Robinow Syndrome:

46 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 ATP8A1 CGA DVL3 GNRH1 IGF1 INHA
2 limbs/digits/tail MP:0005371 9.5 DVL3 HPSE IGF1 LMBR1 ROR2 TWIST1
3 skeleton MP:0005390 9.32 INHA LMBR1 ROR2 TWIST1 WNT5A DVL1

Drugs & Therapeutics for Robinow Syndrome

Drugs for Robinow Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved Phase 3 1374853-91-4
2 Pharmaceutical Solutions Phase 3

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Pembrolizumab (MK-3475) as Monotherapy in the Adjuvant Treatment of Renal Cell Carcinoma Post Nephrectomy (MK-3475-564/KEYNOTE-564) Recruiting NCT03142334 Phase 3 Placebo (saline solution)

Search NIH Clinical Center for Robinow Syndrome

Cochrane evidence based reviews: robinow syndrome, autosomal dominant

Genetic Tests for Robinow Syndrome

Genetic tests related to Robinow Syndrome:

# Genetic test Affiliating Genes
1 Robinow Syndrome 29 DVL1 WNT5A

Anatomical Context for Robinow Syndrome

MalaCards organs/tissues related to Robinow Syndrome:

41
Bone, Heart, Kidney, Testes, Brain

Publications for Robinow Syndrome

Articles related to Robinow Syndrome:

(showing 103, show less)
# Title Authors Year
1
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. ( 29575631 )
2018
2
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. ( 29575616 )
2018
3
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. ( 29276006 )
2018
4
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. ( 29383834 )
2018
5
Robinow syndrome: a diagnosis at the fingertips. ( 29864040 )
2018
6
Surgical Management of Facial Features of Robinow Syndrome: A Case Report. ( 29610615 )
2018
7
Robinow Syndrome and Fusion of Primary Teeth. ( 29042739 )
2017
8
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound. ( 28680597 )
2017
9
Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome. ( 28662348 )
2017
10
Dental management and orofacial manifestations of a patient with Robinow Syndrome. ( 28955595 )
2017
11
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. ( 26924530 )
2016
12
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. ( 27092434 )
2016
13
Robinow Syndrome: A Rare Case Report and Review of Literature. ( 26379386 )
2015
14
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. ( 26284319 )
2015
15
Vertebral anomalies accompanying Robinow syndrome. ( 26674440 )
2015
16
Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome. ( 25817014 )
2015
17
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome. ( 25817016 )
2015
18
Robinow Syndrome: A Rare Diagnosis. ( 26816964 )
2015
19
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. ( 24716670 )
2014
20
Respiratory failure in Robinow syndrome was treated with non-invasive mechanical ventilation for the first time. ( 25581697 )
2014
21
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. ( 24932600 )
2014
22
Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a. ( 25190059 )
2014
23
An osteosclerotic form of Robinow syndrome. ( 25045061 )
2014
24
Prenatal diagnosis of robinow syndrome: A case report. ( 24151023 )
2013
25
RYK is not mutated in autosomal dominant Robinow syndrome. ( 23355721 )
2013
26
Reply to Mazzeu: Human mutations in RYK might cause Robinow syndrome. ( 23472253 )
2013
27
Wnt signalling in testicular descent: a candidate mechanism for cryptorchidism in Robinow syndrome. ( 23895974 )
2013
28
Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. ( 22431878 )
2012
29
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome. ( 22178368 )
2012
30
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. ( 20962035 )
2011
31
Craniofacial and intraoral phenotype of Robinow syndrome forms. ( 21496006 )
2011
32
Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics. ( 20129888 )
2010
33
WNT5A mutations in patients with autosomal dominant Robinow syndrome. ( 19918918 )
2010
34
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. ( 20095987 )
2010
35
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. ( 19640924 )
2009
36
A case report on autosomal recessive Robinow syndrome. ( 19761290 )
2009
37
Identification of an association between Robinow syndrome and moyamoya. ( 19258733 )
2009
38
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. ( 18831060 )
2008
39
Autosomal recessive Robinow syndrome: a case report. ( 18505648 )
2008
40
Robinow syndrome. ( 19753239 )
2008
41
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. ( 18353862 )
2008
42
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. ( 17256787 )
2007
43
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. ( 17603805 )
2007
44
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. ( 17665217 )
2007
45
Robinow syndrome: report of two cases and review of the literature. ( 17217496 )
2007
46
Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome. ( 16757917 )
2006
47
Robinow syndrome with variable neurologic features. ( 16418601 )
2006
48
Laryngeal mask airway and the Robinow syndrome. ( 16407809 )
2006
49
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. ( 17061261 )
2006
50
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. ( 15952209 )
2005
51
ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. ( 16049033 )
2005
52
Robinow Syndrome: a case report. ( 16259327 )
2005
53
Robinow syndrome. ( 14767093 )
2004
54
Midline cleft of the lower lip associated with Robinow syndrome. ( 15841804 )
2004
55
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. ( 14745966 )
2004
56
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. ( 12815588 )
2003
57
Anaesthetic implications of the child with Robinow syndrome. ( 12950866 )
2003
58
Anaesthetic implications of Robinow syndrome. ( 14535914 )
2003
59
Robinow syndrome. ( 12082331 )
2002
60
Robinow syndrome. ( 12011143 )
2002
61
First-trimester diagnosis of Robinow syndrome. ( 11509854 )
2001
62
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. ( 10932186 )
2000
63
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. ( 10932187 )
2000
64
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. ( 10798366 )
2000
65
Robinow syndrome. ( 11273483 )
2000
66
Robinow syndrome with growth hormone deficiency: treatment with growth hormone. ( 10417975 )
1999
67
Robinow syndrome in monozygotic twins with normal stature. ( 10319206 )
1999
68
Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger. ( 9738864 )
1998
69
Congenital heart disease in Robinow syndrome. ( 9600746 )
1998
70
Recessive Robinow syndrome: with emphasis on endocrine functions. ( 9826209 )
1998
71
Robinow syndrome. ( 9598742 )
1998
72
Unusual traits associated with Robinow syndrome. ( 9321759 )
1997
73
Robinow syndrome with developmental brain dysplasia. ( 9375934 )
1997
74
Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports. ( 9383028 )
1997
75
Redefining the genital abnormality in the Robinow syndrome. -004. ( 9146662 )
1997
76
Robinow syndrome: report of one case. ( 9230545 )
1997
77
A case of Robinow syndrome accompanied by partial growth hormone insufficiency treated with growth hormone. ( 9195209 )
1997
78
A large inguinal hernia with undescended testes and micropenis in Robinow syndrome. ( 8723569 )
1996
79
Inverted nipples in Robinow syndrome. ( 8652091 )
1996
80
Anaesthesia and Robinow syndrome. ( 8546306 )
1995
81
ROR2-Related Robinow Syndrome ( 20301418 )
1993
82
Congenital heart disease and Robinow syndrome. ( 8287182 )
1993
83
Autosomal Dominant Robinow Syndrome ( 25577943 )
1993
84
Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand). ( 8287181 )
1993
85
Dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome. ( 1632447 )
1992
86
Robinow syndrome in two siblings from consanguineous parents. ( 1505578 )
1992
87
Congenital heart disease and Robinow syndrome: coincidence or an additional component of the syndrome? ( 2260599 )
1990
88
Autosomal recessive Robinow syndrome. ( 2301471 )
1990
89
Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. ( 2260598 )
1990
90
Robinow syndrome: report of two patients with cystic kidney disease. ( 2200625 )
1990
91
Robinow syndrome with parental consanguinity. ( 2744039 )
1989
92
Robinow syndrome. ( 2630481 )
1989
93
Robinow syndrome. ( 3220568 )
1988
94
Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome. ( 3209680 )
1988
95
Robinow syndrome: report of two patients and review of literature. ( 3549067 )
1987
96
Metacarpophalangeal pattern profile analysis in Robinow syndrome. ( 3605198 )
1987
97
Robinow syndrome without mesomelic 'brachymelia': a report of five cases. ( 3746837 )
1986
98
Robinow syndrome (Fetal Face syndrome). ( 6676283 )
1983
99
The Robinow syndrome. ( 6971600 )
1980
100
Robinow syndrome. ( 498692 )
1979
101
The radiological diagnosis of the fetal-face (= Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of 3 cases. ( 1245439 )
1976
102
The Robinow syndrome: an isolated case with a detailed study of the phenotype. ( 1121970 )
1975
103
Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). ( 4724117 )
1973

Variations for Robinow Syndrome

ClinVar genetic disease variations for Robinow Syndrome:

6
(showing 354, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT5A NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg) single nucleotide variant Pathogenic rs387906663 GRCh37 Chromosome 3, 55508505: 55508505
2 WNT5A NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg) single nucleotide variant Pathogenic rs387906663 GRCh38 Chromosome 3, 55474477: 55474477
3 WNT5A NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser) single nucleotide variant Pathogenic rs786200925 GRCh38 Chromosome 3, 55479457: 55479457
4 WNT5A NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser) single nucleotide variant Pathogenic rs786200925 GRCh37 Chromosome 3, 55513485: 55513485
5 WNT5A NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg) single nucleotide variant Likely pathogenic rs587784562 GRCh37 Chromosome 3, 55508562: 55508562
6 WNT5A NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg) single nucleotide variant Likely pathogenic rs587784562 GRCh38 Chromosome 3, 55474534: 55474534
7 WNT5A NM_003392.4(WNT5A): c.405G> T (p.Thr135=) single nucleotide variant Benign rs147104982 GRCh37 Chromosome 3, 55508644: 55508644
8 WNT5A NM_003392.4(WNT5A): c.405G> T (p.Thr135=) single nucleotide variant Benign rs147104982 GRCh38 Chromosome 3, 55474616: 55474616
9 WNT5A NM_003392.4(WNT5A): c.391+11A> G single nucleotide variant Uncertain significance rs6790979 GRCh37 Chromosome 3, 55513331: 55513331
10 WNT5A NM_003392.4(WNT5A): c.391+11A> G single nucleotide variant Uncertain significance rs6790979 GRCh38 Chromosome 3, 55479303: 55479303
11 WNT5A NM_003392.4(WNT5A): c.141-8C> G single nucleotide variant Uncertain significance rs188798140 GRCh37 Chromosome 3, 55513600: 55513600
12 WNT5A NM_003392.4(WNT5A): c.141-8C> G single nucleotide variant Uncertain significance rs188798140 GRCh38 Chromosome 3, 55479572: 55479572
13 WNT5A NM_003392.4(WNT5A): c.141-9C> T single nucleotide variant Uncertain significance rs181894008 GRCh37 Chromosome 3, 55513601: 55513601
14 WNT5A NM_003392.4(WNT5A): c.141-9C> T single nucleotide variant Uncertain significance rs181894008 GRCh38 Chromosome 3, 55479573: 55479573
15 WNT5A NM_003392.4(WNT5A): c.141-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs181894008 GRCh37 Chromosome 3, 55513601: 55513601
16 WNT5A NM_003392.4(WNT5A): c.141-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs181894008 GRCh38 Chromosome 3, 55479573: 55479573
17 WNT5A NM_003392.4(WNT5A): c.140+14A> G single nucleotide variant Uncertain significance rs139616809 GRCh37 Chromosome 3, 55514799: 55514799
18 WNT5A NM_003392.4(WNT5A): c.140+14A> G single nucleotide variant Uncertain significance rs139616809 GRCh38 Chromosome 3, 55480771: 55480771
19 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh37 Chromosome 9, 94485971: 94485971
20 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh38 Chromosome 9, 91723689: 91723689
21 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh37 Chromosome 9, 94486321: 94486321
22 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh38 Chromosome 9, 91724039: 91724039
23 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh37 Chromosome 9, 94486491: 94486491
24 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh38 Chromosome 9, 91724209: 91724209
25 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh37 Chromosome 9, 94486622: 94486622
26 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh38 Chromosome 9, 91724340: 91724340
27 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh37 Chromosome 9, 94486688: 94486688
28 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh38 Chromosome 9, 91724406: 91724406
29 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh37 Chromosome 9, 94486693: 94486693
30 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh38 Chromosome 9, 91724411: 91724411
31 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh37 Chromosome 9, 94486817: 94486817
32 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh38 Chromosome 9, 91724535: 91724535
33 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh37 Chromosome 9, 94487066: 94487066
34 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh38 Chromosome 9, 91724784: 91724784
35 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh37 Chromosome 9, 94493330: 94493330
36 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh38 Chromosome 9, 91731048: 91731048
37 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh37 Chromosome 9, 94493389: 94493389
38 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh38 Chromosome 9, 91731107: 91731107
39 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh37 Chromosome 9, 94495608: 94495608
40 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh38 Chromosome 9, 91733326: 91733326
41 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh37 Chromosome 9, 94499797: 94499797
42 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh38 Chromosome 9, 91737515: 91737515
43 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh37 Chromosome 9, 94538115: 94538115
44 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh38 Chromosome 9, 91775833: 91775833
45 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh37 Chromosome 9, 94712171: 94712171
46 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh38 Chromosome 9, 91949889: 91949889
47 WNT5A NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh38 Chromosome 3, 55474476: 55474476
48 WNT5A NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh37 Chromosome 3, 55508504: 55508504
49 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh38 Chromosome 3, 55479448: 55479448
50 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh37 Chromosome 3, 55513476: 55513476
51 WNT5A NM_003392.4(WNT5A): c.206G> A (p.Cys69Tyr) single nucleotide variant Pathogenic rs786204837 GRCh38 Chromosome 3, 55479499: 55479499
52 WNT5A NM_003392.4(WNT5A): c.206G> A (p.Cys69Tyr) single nucleotide variant Pathogenic rs786204837 GRCh37 Chromosome 3, 55513527: 55513527
53 ROR2 NM_004560.3(ROR2): c.7C> T (p.Arg3Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs539329891 GRCh37 Chromosome 9, 94712239: 94712239
54 ROR2 NM_004560.3(ROR2): c.7C> T (p.Arg3Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs539329891 GRCh38 Chromosome 9, 91949957: 91949957
55 ROR2 NM_004560.3(ROR2): c.372C> T (p.Asp124=) single nucleotide variant Likely benign rs145568368 GRCh37 Chromosome 9, 94519645: 94519645
56 ROR2 NM_004560.3(ROR2): c.372C> T (p.Asp124=) single nucleotide variant Likely benign rs145568368 GRCh38 Chromosome 9, 91757363: 91757363
57 WNT5A NM_003392.4(WNT5A): c.588C> T (p.Phe196=) single nucleotide variant Benign/Likely benign rs200868061 GRCh37 Chromosome 3, 55508461: 55508461
58 WNT5A NM_003392.4(WNT5A): c.588C> T (p.Phe196=) single nucleotide variant Benign/Likely benign rs200868061 GRCh38 Chromosome 3, 55474433: 55474433
59 ROR2 NM_004560.3(ROR2): c.937+10C> T single nucleotide variant Benign/Likely benign rs201083970 GRCh37 Chromosome 9, 94495394: 94495394
60 ROR2 NM_004560.3(ROR2): c.937+10C> T single nucleotide variant Benign/Likely benign rs201083970 GRCh38 Chromosome 9, 91733112: 91733112
61 ROR2 NM_004560.3(ROR2): c.2395C> T (p.Pro799Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141235720 GRCh37 Chromosome 9, 94486381: 94486381
62 ROR2 NM_004560.3(ROR2): c.2395C> T (p.Pro799Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141235720 GRCh38 Chromosome 9, 91724099: 91724099
63 ROR2 NM_004560.3(ROR2): c.*16G> A single nucleotide variant Benign rs2230578 GRCh37 Chromosome 9, 94485928: 94485928
64 ROR2 NM_004560.3(ROR2): c.*16G> A single nucleotide variant Benign rs2230578 GRCh38 Chromosome 9, 91723646: 91723646
65 DVL3 NM_004423.3(DVL3): c.1585delG (p.Ala529Profs) deletion Pathogenic rs869025215 GRCh37 Chromosome 3, 183887880: 183887880
66 DVL3 NM_004423.3(DVL3): c.1585delG (p.Ala529Profs) deletion Pathogenic rs869025215 GRCh38 Chromosome 3, 184170092: 184170092
67 DVL3 NM_004423.3(DVL3): c.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh37 Chromosome 3, 183888105: 183888105
68 DVL3 NM_004423.3(DVL3): c.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh38 Chromosome 3, 184170317: 184170317
69 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh37 Chromosome 3, 183888106: 183888106
70 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh38 Chromosome 3, 184170318: 184170318
71 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh37 Chromosome 3, 183888108: 183888108
72 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh38 Chromosome 3, 184170320: 184170320
73 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh37 Chromosome 3, 183888141: 183888141
74 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh38 Chromosome 3, 184170353: 184170353
75 ROR2 NM_004560.3(ROR2): c.1686C> T (p.His562=) single nucleotide variant Benign rs56048121 GRCh37 Chromosome 9, 94487090: 94487090
76 ROR2 NM_004560.3(ROR2): c.1686C> T (p.His562=) single nucleotide variant Benign rs56048121 GRCh38 Chromosome 9, 91724808: 91724808
77 ROR2 NM_004560.3(ROR2): c.1670C> T (p.Ser557Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs56099091 GRCh37 Chromosome 9, 94487106: 94487106
78 ROR2 NM_004560.3(ROR2): c.1670C> T (p.Ser557Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs56099091 GRCh38 Chromosome 9, 91724824: 91724824
79 WNT5A NM_003392.4(WNT5A): c.141-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs188798140 GRCh37 Chromosome 3, 55513600: 55513600
80 WNT5A NM_003392.4(WNT5A): c.141-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs188798140 GRCh38 Chromosome 3, 55479572: 55479572
81 ROR2 NM_004560.3(ROR2): c.1756G> A (p.Ala586Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142386294 GRCh37 Chromosome 9, 94487020: 94487020
82 ROR2 NM_004560.3(ROR2): c.1756G> A (p.Ala586Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142386294 GRCh38 Chromosome 9, 91724738: 91724738
83 ROR2 NM_004560.3(ROR2): c.1589G> A (p.Arg530Gln) single nucleotide variant Likely benign rs35852786 GRCh37 Chromosome 9, 94487187: 94487187
84 ROR2 NM_004560.3(ROR2): c.1589G> A (p.Arg530Gln) single nucleotide variant Likely benign rs35852786 GRCh38 Chromosome 9, 91724905: 91724905
85 ROR2 NM_004560.3(ROR2): c.2684A> G (p.Asp895Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs149826387 GRCh37 Chromosome 9, 94486092: 94486092
86 ROR2 NM_004560.3(ROR2): c.2684A> G (p.Asp895Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs149826387 GRCh38 Chromosome 9, 91723810: 91723810
87 ROR2 NM_004560.3(ROR2): c.2727G> A (p.Val909=) single nucleotide variant Benign/Likely benign rs56091954 GRCh37 Chromosome 9, 94486049: 94486049
88 ROR2 NM_004560.3(ROR2): c.2727G> A (p.Val909=) single nucleotide variant Benign/Likely benign rs56091954 GRCh38 Chromosome 9, 91723767: 91723767
89 ROR2 NM_004560.3(ROR2): c.568A> G (p.Thr190Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs34574788 GRCh37 Chromosome 9, 94499727: 94499727
90 ROR2 NM_004560.3(ROR2): c.568A> G (p.Thr190Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs34574788 GRCh38 Chromosome 9, 91737445: 91737445
91 ROR2 NM_004560.3(ROR2): c.1712A> G (p.His571Arg) single nucleotide variant Benign/Likely benign rs376970201 GRCh37 Chromosome 9, 94487064: 94487064
92 ROR2 NM_004560.3(ROR2): c.1712A> G (p.His571Arg) single nucleotide variant Benign/Likely benign rs376970201 GRCh38 Chromosome 9, 91724782: 91724782
93 ROR2 NM_004560.3(ROR2): c.2466C> T (p.Asn822=) single nucleotide variant Benign/Likely benign rs146432734 GRCh37 Chromosome 9, 94486310: 94486310
94 ROR2 NM_004560.3(ROR2): c.2466C> T (p.Asn822=) single nucleotide variant Benign/Likely benign rs146432734 GRCh38 Chromosome 9, 91724028: 91724028
95 ROR2 NM_004560.3(ROR2): c.678C> T (p.Phe226=) single nucleotide variant Conflicting interpretations of pathogenicity rs202159869 GRCh37 Chromosome 9, 94495663: 94495663
96 ROR2 NM_004560.3(ROR2): c.678C> T (p.Phe226=) single nucleotide variant Conflicting interpretations of pathogenicity rs202159869 GRCh38 Chromosome 9, 91733381: 91733381
97 WNT5A NM_003392.4(WNT5A): c.*2485A> G single nucleotide variant Uncertain significance rs886058739 GRCh38 Chromosome 3, 55467607: 55467607
98 WNT5A NM_003392.4(WNT5A): c.*4179dupT duplication Benign rs541387403 GRCh38 Chromosome 3, 55465913: 55465913
99 WNT5A NM_003392.4(WNT5A): c.*4179dupT duplication Benign rs541387403 GRCh37 Chromosome 3, 55499941: 55499941
100 WNT5A NM_003392.4(WNT5A): c.*3721C> T single nucleotide variant Uncertain significance rs748691130 GRCh38 Chromosome 3, 55466371: 55466371
101 WNT5A NM_003392.4(WNT5A): c.*3721C> T single nucleotide variant Uncertain significance rs748691130 GRCh37 Chromosome 3, 55500399: 55500399
102 WNT5A NM_003392.4(WNT5A): c.*3577G> A single nucleotide variant Likely benign rs145234130 GRCh38 Chromosome 3, 55466515: 55466515
103 WNT5A NM_003392.4(WNT5A): c.*3577G> A single nucleotide variant Likely benign rs145234130 GRCh37 Chromosome 3, 55500543: 55500543
104 WNT5A NM_003392.4(WNT5A): c.*3118C> G single nucleotide variant Benign rs669889 GRCh38 Chromosome 3, 55466974: 55466974
105 WNT5A NM_003392.4(WNT5A): c.*3118C> G single nucleotide variant Benign rs669889 GRCh37 Chromosome 3, 55501002: 55501002
106 WNT5A NM_003392.4(WNT5A): c.*2945A> G single nucleotide variant Benign rs1829556 GRCh37 Chromosome 3, 55501175: 55501175
107 WNT5A NM_003392.4(WNT5A): c.*2945A> G single nucleotide variant Benign rs1829556 GRCh38 Chromosome 3, 55467147: 55467147
108 WNT5A NM_003392.4(WNT5A): c.*2728_*2730delGAA deletion Uncertain significance rs886058738 GRCh37 Chromosome 3, 55501390: 55501392
109 WNT5A NM_003392.4(WNT5A): c.*2728_*2730delGAA deletion Uncertain significance rs886058738 GRCh38 Chromosome 3, 55467362: 55467364
110 WNT5A NM_003392.4(WNT5A): c.*2711_*2713delCAA deletion Uncertain significance rs760058727 GRCh38 Chromosome 3, 55467379: 55467381
111 WNT5A NM_003392.4(WNT5A): c.*2711_*2713delCAA deletion Uncertain significance rs760058727 GRCh37 Chromosome 3, 55501407: 55501409
112 WNT5A NM_003392.4(WNT5A): c.*2711delC deletion Uncertain significance rs374459457 GRCh37 Chromosome 3, 55501409: 55501409
113 WNT5A NM_003392.4(WNT5A): c.*2711delC deletion Uncertain significance rs374459457 GRCh38 Chromosome 3, 55467381: 55467381
114 WNT5A NM_003392.4(WNT5A): c.*2485A> G single nucleotide variant Uncertain significance rs886058739 GRCh37 Chromosome 3, 55501635: 55501635
115 WNT5A NM_003392.4(WNT5A): c.*1791G> T single nucleotide variant Uncertain significance rs886058740 GRCh38 Chromosome 3, 55468301: 55468301
116 WNT5A NM_003392.4(WNT5A): c.*1791G> T single nucleotide variant Uncertain significance rs886058740 GRCh37 Chromosome 3, 55502329: 55502329
117 WNT5A NM_003392.4(WNT5A): c.*1276T> C single nucleotide variant Likely benign rs78242304 GRCh38 Chromosome 3, 55468816: 55468816
118 WNT5A NM_003392.4(WNT5A): c.*1276T> C single nucleotide variant Likely benign rs78242304 GRCh37 Chromosome 3, 55502844: 55502844
119 WNT5A NM_003392.4(WNT5A): c.*38C> T single nucleotide variant Likely benign rs62620048 GRCh38 Chromosome 3, 55470054: 55470054
120 WNT5A NM_003392.4(WNT5A): c.*38C> T single nucleotide variant Likely benign rs62620048 GRCh37 Chromosome 3, 55504082: 55504082
121 WNT5A NM_003392.4(WNT5A): c.807G> A (p.Lys269=) single nucleotide variant Likely benign rs117338660 GRCh38 Chromosome 3, 55470428: 55470428
122 WNT5A NM_003392.4(WNT5A): c.807G> A (p.Lys269=) single nucleotide variant Likely benign rs117338660 GRCh37 Chromosome 3, 55504456: 55504456
123 WNT5A NM_003392.4(WNT5A): c.685A> G (p.Thr229Ala) single nucleotide variant Uncertain significance rs886058744 GRCh38 Chromosome 3, 55470550: 55470550
124 WNT5A NM_003392.4(WNT5A): c.685A> G (p.Thr229Ala) single nucleotide variant Uncertain significance rs886058744 GRCh37 Chromosome 3, 55504578: 55504578
125 WNT5A NM_003392.4(WNT5A): c.-393_-391delCAC deletion Uncertain significance rs886058749 GRCh38 Chromosome 3, 55487376: 55487378
126 WNT5A NM_003392.4(WNT5A): c.-393_-391delCAC deletion Uncertain significance rs886058749 GRCh37 Chromosome 3, 55521404: 55521406
127 WNT5A NM_003392.4(WNT5A): c.*4356T> C single nucleotide variant Uncertain significance rs886058730 GRCh38 Chromosome 3, 55465736: 55465736
128 WNT5A NM_003392.4(WNT5A): c.*4356T> C single nucleotide variant Uncertain significance rs886058730 GRCh37 Chromosome 3, 55499764: 55499764
129 WNT5A NM_003392.4(WNT5A): c.*4339A> G single nucleotide variant Benign rs1047898 GRCh38 Chromosome 3, 55465753: 55465753
130 WNT5A NM_003392.4(WNT5A): c.*4339A> G single nucleotide variant Benign rs1047898 GRCh37 Chromosome 3, 55499781: 55499781
131 WNT5A NM_003392.4(WNT5A): c.*4075A> T single nucleotide variant Benign rs11708810 GRCh38 Chromosome 3, 55466017: 55466017
132 WNT5A NM_003392.4(WNT5A): c.*4075A> T single nucleotide variant Benign rs11708810 GRCh37 Chromosome 3, 55500045: 55500045
133 WNT5A NM_003392.4(WNT5A): c.*3864T> C single nucleotide variant Likely benign rs558314062 GRCh38 Chromosome 3, 55466228: 55466228
134 WNT5A NM_003392.4(WNT5A): c.*3864T> C single nucleotide variant Likely benign rs558314062 GRCh37 Chromosome 3, 55500256: 55500256
135 WNT5A NM_003392.4(WNT5A): c.*3745C> T single nucleotide variant Likely benign rs192030783 GRCh38 Chromosome 3, 55466347: 55466347
136 WNT5A NM_003392.4(WNT5A): c.*3745C> T single nucleotide variant Likely benign rs192030783 GRCh37 Chromosome 3, 55500375: 55500375
137 WNT5A NM_003392.4(WNT5A): c.*3647T> C single nucleotide variant Likely benign rs568683612 GRCh38 Chromosome 3, 55466445: 55466445
138 WNT5A NM_003392.4(WNT5A): c.*3647T> C single nucleotide variant Likely benign rs568683612 GRCh37 Chromosome 3, 55500473: 55500473
139 WNT5A NM_003392.4(WNT5A): c.*3473T> G single nucleotide variant Likely benign rs558946125 GRCh38 Chromosome 3, 55466619: 55466619
140 WNT5A NM_003392.4(WNT5A): c.*3473T> G single nucleotide variant Likely benign rs558946125 GRCh37 Chromosome 3, 55500647: 55500647
141 WNT5A NM_003392.4(WNT5A): c.*3195delC deletion Benign rs71619898 GRCh38 Chromosome 3, 55466897: 55466897
142 WNT5A NM_003392.4(WNT5A): c.*3195delC deletion Benign rs71619898 GRCh37 Chromosome 3, 55500925: 55500925
143 WNT5A NM_003392.4(WNT5A): c.*2918A> G single nucleotide variant Uncertain significance rs886058735 GRCh37 Chromosome 3, 55501202: 55501202
144 WNT5A NM_003392.4(WNT5A): c.*2918A> G single nucleotide variant Uncertain significance rs886058735 GRCh38 Chromosome 3, 55467174: 55467174
145 WNT5A NM_003392.4(WNT5A): c.*2811C> T single nucleotide variant Uncertain significance rs886058736 GRCh37 Chromosome 3, 55501309: 55501309
146 WNT5A NM_003392.4(WNT5A): c.*2811C> T single nucleotide variant Uncertain significance rs886058736 GRCh38 Chromosome 3, 55467281: 55467281
147 WNT5A NM_003392.4(WNT5A): c.*2276dupT duplication Benign rs397795589 GRCh38 Chromosome 3, 55467816: 55467816
148 WNT5A NM_003392.4(WNT5A): c.*2276dupT duplication Benign rs397795589 GRCh37 Chromosome 3, 55501844: 55501844
149 WNT5A NM_003392.4(WNT5A): c.*2011G> A single nucleotide variant Likely benign rs115634773 GRCh38 Chromosome 3, 55468081: 55468081
150 WNT5A NM_003392.4(WNT5A): c.*2011G> A single nucleotide variant Likely benign rs115634773 GRCh37 Chromosome 3, 55502109: 55502109
151 WNT5A NM_003392.4(WNT5A): c.*1952_*1953dupTT duplication Uncertain significance rs368581342 GRCh38 Chromosome 3, 55468139: 55468140
152 WNT5A NM_003392.4(WNT5A): c.*1952_*1953dupTT duplication Uncertain significance rs368581342 GRCh37 Chromosome 3, 55502167: 55502168
153 WNT5A NM_003392.4(WNT5A): c.*1953dupT duplication Conflicting interpretations of pathogenicity rs368581342 GRCh38 Chromosome 3, 55468139: 55468139
154 WNT5A NM_003392.4(WNT5A): c.*1953dupT duplication Conflicting interpretations of pathogenicity rs368581342 GRCh37 Chromosome 3, 55502167: 55502167
155 WNT5A NM_003392.4(WNT5A): c.*1657T> G single nucleotide variant Likely benign rs564531607 GRCh38 Chromosome 3, 55468435: 55468435
156 WNT5A NM_003392.4(WNT5A): c.*1657T> G single nucleotide variant Likely benign rs564531607 GRCh37 Chromosome 3, 55502463: 55502463
157 WNT5A NM_003392.4(WNT5A): c.*1440T> C single nucleotide variant Uncertain significance rs886058743 GRCh38 Chromosome 3, 55468652: 55468652
158 WNT5A NM_003392.4(WNT5A): c.*1440T> C single nucleotide variant Uncertain significance rs886058743 GRCh37 Chromosome 3, 55502680: 55502680
159 WNT5A NM_003392.4(WNT5A): c.*1357A> G single nucleotide variant Likely benign rs193110085 GRCh38 Chromosome 3, 55468735: 55468735
160 WNT5A NM_003392.4(WNT5A): c.*1357A> G single nucleotide variant Likely benign rs193110085 GRCh37 Chromosome 3, 55502763: 55502763
161 WNT5A NM_003392.4(WNT5A): c.*1277G> A single nucleotide variant Likely benign rs569095457 GRCh38 Chromosome 3, 55468815: 55468815
162 WNT5A NM_003392.4(WNT5A): c.*1277G> A single nucleotide variant Likely benign rs569095457 GRCh37 Chromosome 3, 55502843: 55502843
163 WNT5A NM_003392.4(WNT5A): c.*1103C> G single nucleotide variant Likely benign rs372238602 GRCh38 Chromosome 3, 55468989: 55468989
164 WNT5A NM_003392.4(WNT5A): c.*1103C> G single nucleotide variant Likely benign rs372238602 GRCh37 Chromosome 3, 55503017: 55503017
165 WNT5A NM_003392.4(WNT5A): c.*579A> G single nucleotide variant Benign rs57473848 GRCh38 Chromosome 3, 55469513: 55469513
166 WNT5A NM_003392.4(WNT5A): c.*579A> G single nucleotide variant Benign rs57473848 GRCh37 Chromosome 3, 55503541: 55503541
167 WNT5A NM_003392.4(WNT5A): c.*564C> T single nucleotide variant Likely benign rs114656473 GRCh38 Chromosome 3, 55469528: 55469528
168 WNT5A NM_003392.4(WNT5A): c.*564C> T single nucleotide variant Likely benign rs114656473 GRCh37 Chromosome 3, 55503556: 55503556
169 WNT5A NM_003392.4(WNT5A): c.110C> G (p.Ala37Gly) single nucleotide variant Likely benign rs190451046 GRCh38 Chromosome 3, 55480815: 55480815
170 WNT5A NM_003392.4(WNT5A): c.110C> G (p.Ala37Gly) single nucleotide variant Likely benign rs190451046 GRCh37 Chromosome 3, 55514843: 55514843
171 WNT5A NM_003392.4(WNT5A): c.-575G> A single nucleotide variant Uncertain significance rs886058752 GRCh38 Chromosome 3, 55487560: 55487560
172 WNT5A NM_003392.4(WNT5A): c.-575G> A single nucleotide variant Uncertain significance rs886058752 GRCh37 Chromosome 3, 55521588: 55521588
173 WNT5A NM_003392.4(WNT5A): c.-592G> T single nucleotide variant Uncertain significance rs750801744 GRCh38 Chromosome 3, 55487577: 55487577
174 WNT5A NM_003392.4(WNT5A): c.-592G> T single nucleotide variant Uncertain significance rs750801744 GRCh37 Chromosome 3, 55521605: 55521605
175 WNT5A NM_003392.4(WNT5A): c.*4142G> T single nucleotide variant Uncertain significance rs886058731 GRCh38 Chromosome 3, 55465950: 55465950
176 WNT5A NM_003392.4(WNT5A): c.*4142G> T single nucleotide variant Uncertain significance rs886058731 GRCh37 Chromosome 3, 55499978: 55499978
177 WNT5A NM_003392.4(WNT5A): c.*4127C> T single nucleotide variant Uncertain significance rs886058732 GRCh38 Chromosome 3, 55465965: 55465965
178 WNT5A NM_003392.4(WNT5A): c.*4127C> T single nucleotide variant Uncertain significance rs886058732 GRCh37 Chromosome 3, 55499993: 55499993
179 WNT5A NM_003392.4(WNT5A): c.*3420T> C single nucleotide variant Benign rs17055392 GRCh38 Chromosome 3, 55466672: 55466672
180 WNT5A NM_003392.4(WNT5A): c.*3420T> C single nucleotide variant Benign rs17055392 GRCh37 Chromosome 3, 55500700: 55500700
181 WNT5A NM_003392.4(WNT5A): c.*3125T> G single nucleotide variant Uncertain significance rs745903896 GRCh38 Chromosome 3, 55466967: 55466967
182 WNT5A NM_003392.4(WNT5A): c.*3125T> G single nucleotide variant Uncertain significance rs745903896 GRCh37 Chromosome 3, 55500995: 55500995
183 WNT5A NM_003392.4(WNT5A): c.*2878T> C single nucleotide variant Likely benign rs182690547 GRCh37 Chromosome 3, 55501242: 55501242
184 WNT5A NM_003392.4(WNT5A): c.*2878T> C single nucleotide variant Likely benign rs182690547 GRCh38 Chromosome 3, 55467214: 55467214
185 WNT5A NM_003392.4(WNT5A): c.*2731dupA duplication Uncertain significance rs886058737 GRCh37 Chromosome 3, 55501389: 55501389
186 WNT5A NM_003392.4(WNT5A): c.*2731dupA duplication Uncertain significance rs886058737 GRCh38 Chromosome 3, 55467361: 55467361
187 WNT5A NM_003392.4(WNT5A): c.*2728delG deletion Uncertain significance rs142609857 GRCh38 Chromosome 3, 55467364: 55467364
188 WNT5A NM_003392.4(WNT5A): c.*2728delG deletion Uncertain significance rs142609857 GRCh37 Chromosome 3, 55501392: 55501392
189 WNT5A NM_003392.4(WNT5A): c.*2655G> C single nucleotide variant Likely benign rs75604544 GRCh38 Chromosome 3, 55467437: 55467437
190 WNT5A NM_003392.4(WNT5A): c.*2655G> C single nucleotide variant Likely benign rs75604544 GRCh37 Chromosome 3, 55501465: 55501465
191 WNT5A NM_003392.4(WNT5A): c.*2010C> A single nucleotide variant Likely benign rs139339191 GRCh38 Chromosome 3, 55468082: 55468082
192 WNT5A NM_003392.4(WNT5A): c.*2010C> A single nucleotide variant Likely benign rs139339191 GRCh37 Chromosome 3, 55502110: 55502110
193 WNT5A NM_003392.4(WNT5A): c.*1952_*1953delTT deletion Uncertain significance rs796958500 GRCh38 Chromosome 3, 55468139: 55468140
194 WNT5A NM_003392.4(WNT5A): c.*1952_*1953delTT deletion Uncertain significance rs796958500 GRCh37 Chromosome 3, 55502167: 55502168
195 WNT5A NM_003392.4(WNT5A): c.*1684T> C single nucleotide variant Likely benign rs75309592 GRCh37 Chromosome 3, 55502436: 55502436
196 WNT5A NM_003392.4(WNT5A): c.*1684T> C single nucleotide variant Likely benign rs75309592 GRCh38 Chromosome 3, 55468408: 55468408
197 WNT5A NM_003392.4(WNT5A): c.*1561G> C single nucleotide variant Benign rs115866195 GRCh38 Chromosome 3, 55468531: 55468531
198 WNT5A NM_003392.4(WNT5A): c.*1561G> C single nucleotide variant Benign rs115866195 GRCh37 Chromosome 3, 55502559: 55502559
199 WNT5A NM_003392.4(WNT5A): c.*1446T> A single nucleotide variant Uncertain significance rs886058742 GRCh37 Chromosome 3, 55502674: 55502674
200 WNT5A NM_003392.4(WNT5A): c.*1446T> A single nucleotide variant Uncertain significance rs886058742 GRCh38 Chromosome 3, 55468646: 55468646
201 WNT5A NM_003392.4(WNT5A): c.*1440_*1441dupTA duplication Uncertain significance rs770017933 GRCh38 Chromosome 3, 55468651: 55468652
202 WNT5A NM_003392.4(WNT5A): c.*1440_*1441dupTA duplication Uncertain significance rs770017933 GRCh37 Chromosome 3, 55502679: 55502680
203 WNT5A NM_003392.4(WNT5A): c.*1177T> C single nucleotide variant Likely benign rs553244578 GRCh38 Chromosome 3, 55468915: 55468915
204 WNT5A NM_003392.4(WNT5A): c.*1177T> C single nucleotide variant Likely benign rs553244578 GRCh37 Chromosome 3, 55502943: 55502943
205 WNT5A NM_003392.4(WNT5A): c.*245A> G single nucleotide variant Likely benign rs575974105 GRCh38 Chromosome 3, 55469847: 55469847
206 WNT5A NM_003392.4(WNT5A): c.*245A> G single nucleotide variant Likely benign rs575974105 GRCh37 Chromosome 3, 55503875: 55503875
207 WNT5A NM_003392.4(WNT5A): c.41T> C (p.Leu14Ser) single nucleotide variant Uncertain significance rs886058746 GRCh37 Chromosome 3, 55514912: 55514912
208 WNT5A NM_003392.4(WNT5A): c.41T> C (p.Leu14Ser) single nucleotide variant Uncertain significance rs886058746 GRCh38 Chromosome 3, 55480884: 55480884
209 WNT5A NM_003392.4(WNT5A): c.-61G> A single nucleotide variant Likely benign rs200438653 GRCh37 Chromosome 3, 55521074: 55521074
210 WNT5A NM_003392.4(WNT5A): c.-61G> A single nucleotide variant Likely benign rs200438653 GRCh38 Chromosome 3, 55487046: 55487046
211 WNT5A NM_003392.4(WNT5A): c.-150C> T single nucleotide variant Uncertain significance rs886058747 GRCh37 Chromosome 3, 55521163: 55521163
212 WNT5A NM_003392.4(WNT5A): c.-150C> T single nucleotide variant Uncertain significance rs886058747 GRCh38 Chromosome 3, 55487135: 55487135
213 WNT5A NM_003392.4(WNT5A): c.-150C> G single nucleotide variant Uncertain significance rs886058747 GRCh37 Chromosome 3, 55521163: 55521163
214 WNT5A NM_003392.4(WNT5A): c.-150C> G single nucleotide variant Uncertain significance rs886058747 GRCh38 Chromosome 3, 55487135: 55487135
215 WNT5A NM_003392.4(WNT5A): c.-329C> T single nucleotide variant Likely benign rs567654270 GRCh38 Chromosome 3, 55487314: 55487314
216 WNT5A NM_003392.4(WNT5A): c.-329C> T single nucleotide variant Likely benign rs567654270 GRCh37 Chromosome 3, 55521342: 55521342
217 WNT5A NM_003392.4(WNT5A): c.-503C> T single nucleotide variant Uncertain significance rs886058750 GRCh38 Chromosome 3, 55487488: 55487488
218 WNT5A NM_003392.4(WNT5A): c.-503C> T single nucleotide variant Uncertain significance rs886058750 GRCh37 Chromosome 3, 55521516: 55521516
219 WNT5A NM_003392.4(WNT5A): c.*3938_*3939delCT deletion Uncertain significance rs886058733 GRCh38 Chromosome 3, 55466153: 55466154
220 WNT5A NM_003392.4(WNT5A): c.*3938_*3939delCT deletion Uncertain significance rs886058733 GRCh37 Chromosome 3, 55500181: 55500182
221 WNT5A NM_003392.4(WNT5A): c.*3712A> T single nucleotide variant Benign rs10865994 GRCh37 Chromosome 3, 55500408: 55500408
222 WNT5A NM_003392.4(WNT5A): c.*3712A> T single nucleotide variant Benign rs10865994 GRCh38 Chromosome 3, 55466380: 55466380
223 WNT5A NM_003392.4(WNT5A): c.*3661C> T single nucleotide variant Uncertain significance rs201277187 GRCh38 Chromosome 3, 55466431: 55466431
224 WNT5A NM_003392.4(WNT5A): c.*3661C> T single nucleotide variant Uncertain significance rs201277187 GRCh37 Chromosome 3, 55500459: 55500459
225 WNT5A NM_003392.4(WNT5A): c.*3157G> A single nucleotide variant Uncertain significance rs886058734 GRCh38 Chromosome 3, 55466935: 55466935
226 WNT5A NM_003392.4(WNT5A): c.*3157G> A single nucleotide variant Uncertain significance rs886058734 GRCh37 Chromosome 3, 55500963: 55500963
227 WNT5A NM_003392.4(WNT5A): c.*2053C> T single nucleotide variant Uncertain significance rs772032186 GRCh38 Chromosome 3, 55468039: 55468039
228 WNT5A NM_003392.4(WNT5A): c.*2053C> T single nucleotide variant Uncertain significance rs772032186 GRCh37 Chromosome 3, 55502067: 55502067
229 WNT5A NM_003392.4(WNT5A): c.*1869C> T single nucleotide variant Benign rs3732750 GRCh38 Chromosome 3, 55468223: 55468223
230 WNT5A NM_003392.4(WNT5A): c.*1869C> T single nucleotide variant Benign rs3732750 GRCh37 Chromosome 3, 55502251: 55502251
231 WNT5A NM_003392.4(WNT5A): c.*1655G> A single nucleotide variant Uncertain significance rs867505595 GRCh37 Chromosome 3, 55502465: 55502465
232 WNT5A NM_003392.4(WNT5A): c.*1655G> A single nucleotide variant Uncertain significance rs867505595 GRCh38 Chromosome 3, 55468437: 55468437
233 WNT5A NM_003392.4(WNT5A): c.*1464_*1469dupAATATA duplication Likely benign rs538418882 GRCh38 Chromosome 3, 55468623: 55468628
234 WNT5A NM_003392.4(WNT5A): c.*1464_*1469dupAATATA duplication Likely benign rs538418882 GRCh37 Chromosome 3, 55502651: 55502656
235 WNT5A NM_003392.4(WNT5A): c.*1450_*1451dupTA duplication Uncertain significance rs886058741 GRCh38 Chromosome 3, 55468641: 55468642
236 WNT5A NM_003392.4(WNT5A): c.*1450_*1451dupTA duplication Uncertain significance rs886058741 GRCh37 Chromosome 3, 55502669: 55502670
237 WNT5A NM_003392.4(WNT5A): c.*1440_*1441delTA deletion Uncertain significance rs374828022 GRCh37 Chromosome 3, 55502679: 55502680
238 WNT5A NM_003392.4(WNT5A): c.*1440_*1441delTA deletion Uncertain significance rs374828022 GRCh38 Chromosome 3, 55468651: 55468652
239 WNT5A NM_003392.4(WNT5A): c.*978G> A single nucleotide variant Likely benign rs576035757 GRCh38 Chromosome 3, 55469114: 55469114
240 WNT5A NM_003392.4(WNT5A): c.*978G> A single nucleotide variant Likely benign rs576035757 GRCh37 Chromosome 3, 55503142: 55503142
241 WNT5A NM_003392.4(WNT5A): c.*810delA deletion Benign rs3836397 GRCh38 Chromosome 3, 55469282: 55469282
242 WNT5A NM_003392.4(WNT5A): c.*810delA deletion Benign rs3836397 GRCh37 Chromosome 3, 55503310: 55503310
243 WNT5A NM_003392.4(WNT5A): c.*598A> T single nucleotide variant Benign rs3773606 GRCh38 Chromosome 3, 55469494: 55469494
244 WNT5A NM_003392.4(WNT5A): c.*598A> T single nucleotide variant Benign rs3773606 GRCh37 Chromosome 3, 55503522: 55503522
245 WNT5A NM_003392.4(WNT5A): c.983C> T (p.Thr328Met) single nucleotide variant Likely benign rs201975128 GRCh38 Chromosome 3, 55470252: 55470252
246 WNT5A NM_003392.4(WNT5A): c.983C> T (p.Thr328Met) single nucleotide variant Likely benign rs201975128 GRCh37 Chromosome 3, 55504280: 55504280
247 WNT5A NM_003392.4(WNT5A): c.141-14T> C single nucleotide variant Uncertain significance rs886058745 GRCh37 Chromosome 3, 55513606: 55513606
248 WNT5A NM_003392.4(WNT5A): c.141-14T> C single nucleotide variant Uncertain significance rs886058745 GRCh38 Chromosome 3, 55479578: 55479578
249 WNT5A NM_003392.4(WNT5A): c.-292G> C single nucleotide variant Uncertain significance rs748087732 GRCh38 Chromosome 3, 55487277: 55487277
250 WNT5A NM_003392.4(WNT5A): c.-292G> C single nucleotide variant Uncertain significance rs748087732 GRCh37 Chromosome 3, 55521305: 55521305
251 WNT5A NM_003392.4(WNT5A): c.-383G> A single nucleotide variant Uncertain significance rs886058748 GRCh38 Chromosome 3, 55487368: 55487368
252 WNT5A NM_003392.4(WNT5A): c.-383G> A single nucleotide variant Uncertain significance rs886058748 GRCh37 Chromosome 3, 55521396: 55521396
253 WNT5A NM_003392.4(WNT5A): c.-393C> T single nucleotide variant Uncertain significance rs556605284 GRCh38 Chromosome 3, 55487378: 55487378
254 WNT5A NM_003392.4(WNT5A): c.-393C> T single nucleotide variant Uncertain significance rs556605284 GRCh37 Chromosome 3, 55521406: 55521406
255 WNT5A NM_003392.4(WNT5A): c.-574C> A single nucleotide variant Uncertain significance rs886058751 GRCh38 Chromosome 3, 55487559: 55487559
256 WNT5A NM_003392.4(WNT5A): c.-574C> A single nucleotide variant Uncertain significance rs886058751 GRCh37 Chromosome 3, 55521587: 55521587
257 ROR2 NM_004560.3(ROR2): c.*927C> T single nucleotide variant Likely benign rs150568265 GRCh37 Chromosome 9, 94485017: 94485017
258 ROR2 NM_004560.3(ROR2): c.*927C> T single nucleotide variant Likely benign rs150568265 GRCh38 Chromosome 9, 91722735: 91722735
259 ROR2 NM_004560.3(ROR2): c.*886G> T single nucleotide variant Likely benign rs114078962 GRCh37 Chromosome 9, 94485058: 94485058
260 ROR2 NM_004560.3(ROR2): c.*886G> T single nucleotide variant Likely benign rs114078962 GRCh38 Chromosome 9, 91722776: 91722776
261 ROR2 NM_004560.3(ROR2): c.*487C> G single nucleotide variant Uncertain significance rs970063320 GRCh37 Chromosome 9, 94485457: 94485457
262 ROR2 NM_004560.3(ROR2): c.*487C> G single nucleotide variant Uncertain significance rs970063320 GRCh38 Chromosome 9, 91723175: 91723175
263 ROR2 NM_004560.3(ROR2): c.*229C> T single nucleotide variant Likely benign rs75004227 GRCh37 Chromosome 9, 94485715: 94485715
264 ROR2 NM_004560.3(ROR2): c.*229C> T single nucleotide variant Likely benign rs75004227 GRCh38 Chromosome 9, 91723433: 91723433
265 ROR2 NM_004560.3(ROR2): c.*135G> T single nucleotide variant Uncertain significance rs774621355 GRCh37 Chromosome 9, 94485809: 94485809
266 ROR2 NM_004560.3(ROR2): c.*135G> T single nucleotide variant Uncertain significance rs774621355 GRCh38 Chromosome 9, 91723527: 91723527
267 ROR2 NM_004560.3(ROR2): c.2190C> T (p.Asn730=) single nucleotide variant Uncertain significance rs372509332 GRCh37 Chromosome 9, 94486586: 94486586
268 ROR2 NM_004560.3(ROR2): c.2190C> T (p.Asn730=) single nucleotide variant Uncertain significance rs372509332 GRCh38 Chromosome 9, 91724304: 91724304
269 ROR2 NM_004560.3(ROR2): c.1491G> A (p.Pro497=) single nucleotide variant Uncertain significance rs146347005 GRCh37 Chromosome 9, 94487285: 94487285
270 ROR2 NM_004560.3(ROR2): c.1491G> A (p.Pro497=) single nucleotide variant Uncertain significance rs146347005 GRCh38 Chromosome 9, 91725003: 91725003
271 ROR2 NM_004560.3(ROR2): c.1448G> A (p.Arg483Gln) single nucleotide variant Likely benign rs767474960 GRCh37 Chromosome 9, 94487328: 94487328
272 ROR2 NM_004560.3(ROR2): c.1448G> A (p.Arg483Gln) single nucleotide variant Likely benign rs767474960 GRCh38 Chromosome 9, 91725046: 91725046
273 ROR2 NM_004560.3(ROR2): c.1234A> G (p.Ile412Val) single nucleotide variant Uncertain significance rs1057515681 GRCh37 Chromosome 9, 94488975: 94488975
274 ROR2 NM_004560.3(ROR2): c.1234A> G (p.Ile412Val) single nucleotide variant Uncertain significance rs1057515681 GRCh38 Chromosome 9, 91726693: 91726693
275 ROR2 NM_004560.3(ROR2): c.1184-10T> C single nucleotide variant Likely benign rs184670366 GRCh38 Chromosome 9, 91726753: 91726753
276 ROR2 NM_004560.3(ROR2): c.1184-10T> C single nucleotide variant Likely benign rs184670366 GRCh37 Chromosome 9, 94489035: 94489035
277 ROR2 NM_004560.3(ROR2): c.702C> T (p.Phe234=) single nucleotide variant Likely benign rs559697443 GRCh38 Chromosome 9, 91733357: 91733357
278 ROR2 NM_004560.3(ROR2): c.702C> T (p.Phe234=) single nucleotide variant Likely benign rs559697443 GRCh37 Chromosome 9, 94495639: 94495639
279 ROR2 NM_004560.3(ROR2): c.276C> T (p.Asn92=) single nucleotide variant Benign rs56227711 GRCh37 Chromosome 9, 94519741: 94519741
280 ROR2 NM_004560.3(ROR2): c.276C> T (p.Asn92=) single nucleotide variant Benign rs56227711 GRCh38 Chromosome 9, 91757459: 91757459
281 ROR2 NM_004560.3(ROR2): c.-135G> C single nucleotide variant Uncertain significance rs1057515683 GRCh37 Chromosome 9, 94712380: 94712380
282 ROR2 NM_004560.3(ROR2): c.-135G> C single nucleotide variant Uncertain significance rs1057515683 GRCh38 Chromosome 9, 91950098: 91950098
283 ROR2 NM_004560.3(ROR2): c.*766T> C single nucleotide variant Likely benign rs548573232 GRCh37 Chromosome 9, 94485178: 94485178
284 ROR2 NM_004560.3(ROR2): c.*766T> C single nucleotide variant Likely benign rs548573232 GRCh38 Chromosome 9, 91722896: 91722896
285 ROR2 NM_004560.3(ROR2): c.*736A> G single nucleotide variant Likely benign rs73654047 GRCh37 Chromosome 9, 94485208: 94485208
286 ROR2 NM_004560.3(ROR2): c.*736A> G single nucleotide variant Likely benign rs73654047 GRCh38 Chromosome 9, 91722926: 91722926
287 ROR2 NM_004560.3(ROR2): c.*712C> T single nucleotide variant Benign rs1135150 GRCh37 Chromosome 9, 94485232: 94485232
288 ROR2 NM_004560.3(ROR2): c.*712C> T single nucleotide variant Benign rs1135150 GRCh38 Chromosome 9, 91722950: 91722950
289 ROR2 NM_004560.3(ROR2): c.*682C> G single nucleotide variant Uncertain significance rs1057515678 GRCh37 Chromosome 9, 94485262: 94485262
290 ROR2 NM_004560.3(ROR2): c.*682C> G single nucleotide variant Uncertain significance rs1057515678 GRCh38 Chromosome 9, 91722980: 91722980
291 ROR2 NM_004560.3(ROR2): c.*558C> T single nucleotide variant Likely benign rs571058325 GRCh37 Chromosome 9, 94485386: 94485386
292 ROR2 NM_004560.3(ROR2): c.*558C> T single nucleotide variant Likely benign rs571058325 GRCh38 Chromosome 9, 91723104: 91723104
293 ROR2 NM_004560.3(ROR2): c.*521G> A single nucleotide variant Likely benign rs147339603 GRCh37 Chromosome 9, 94485423: 94485423
294 ROR2 NM_004560.3(ROR2): c.*521G> A single nucleotide variant Likely benign rs147339603 GRCh38 Chromosome 9, 91723141: 91723141
295 ROR2 NM_004560.3(ROR2): c.*180C> A single nucleotide variant Uncertain significance rs542396423 GRCh37 Chromosome 9, 94485764: 94485764
296 ROR2 NM_004560.3(ROR2): c.*180C> A single nucleotide variant Uncertain significance rs542396423 GRCh38 Chromosome 9, 91723482: 91723482
297 ROR2 NM_004560.3(ROR2): c.1820C> T (p.Ser607Phe) single nucleotide variant Uncertain significance rs769849104 GRCh37 Chromosome 9, 94486956: 94486956
298 ROR2 NM_004560.3(ROR2): c.1820C> T (p.Ser607Phe) single nucleotide variant Uncertain significance rs769849104 GRCh38 Chromosome 9, 91724674: 91724674
299 ROR2 NM_004560.3(ROR2): c.1642C> T (p.Pro548Ser) single nucleotide variant Likely benign rs35764413 GRCh37 Chromosome 9, 94487134: 94487134
300 ROR2 NM_004560.3(ROR2): c.1642C> T (p.Pro548Ser) single nucleotide variant Likely benign rs35764413 GRCh38 Chromosome 9, 91724852: 91724852
301 ROR2 NM_004560.3(ROR2): c.1307C> T (p.Ala436Val) single nucleotide variant Uncertain significance rs149842671 GRCh37 Chromosome 9, 94488902: 94488902
302 ROR2 NM_004560.3(ROR2): c.1307C> T (p.Ala436Val) single nucleotide variant Uncertain significance rs149842671 GRCh38 Chromosome 9, 91726620: 91726620
303 ROR2 NM_004560.3(ROR2): c.864G> A (p.Ala288=) single nucleotide variant Likely benign rs142926399 GRCh38 Chromosome 9, 91733195: 91733195
304 ROR2 NM_004560.3(ROR2): c.864G> A (p.Ala288=) single nucleotide variant Likely benign rs142926399 GRCh37 Chromosome 9, 94495477: 94495477
305 ROR2 NM_004560.3(ROR2): c.-36A> G single nucleotide variant Likely benign rs756061621 GRCh38 Chromosome 9, 91949999: 91949999
306 ROR2 NM_004560.3(ROR2): c.-36A> G single nucleotide variant Likely benign rs756061621 GRCh37 Chromosome 9, 94712281: 94712281
307 ROR2 NM_004560.3(ROR2): c.-60G> T single nucleotide variant Likely benign rs184095609 GRCh37 Chromosome 9, 94712305: 94712305
308 ROR2 NM_004560.3(ROR2): c.-60G> T single nucleotide variant Likely benign rs184095609 GRCh38 Chromosome 9, 91950023: 91950023
309 ROR2 NM_004560.3(ROR2): c.*1016T> G single nucleotide variant Benign rs1135169 GRCh37 Chromosome 9, 94484928: 94484928
310 ROR2 NM_004560.3(ROR2): c.*1016T> G single nucleotide variant Benign rs1135169 GRCh38 Chromosome 9, 91722646: 91722646
311 ROR2 NM_004560.3(ROR2): c.*245A> G single nucleotide variant Likely benign rs77664658 GRCh37 Chromosome 9, 94485699: 94485699
312 ROR2 NM_004560.3(ROR2): c.*245A> G single nucleotide variant Likely benign rs77664658 GRCh38 Chromosome 9, 91723417: 91723417
313 ROR2 NM_004560.3(ROR2): c.*172_*175delAGAG deletion Benign rs140581955 GRCh37 Chromosome 9, 94485769: 94485772
314 ROR2 NM_004560.3(ROR2): c.*172_*175delAGAG deletion Benign rs140581955 GRCh38 Chromosome 9, 91723487: 91723490
315 ROR2 NM_004560.3(ROR2): c.2649G> A (p.Met883Ile) single nucleotide variant Uncertain significance rs373037095 GRCh37 Chromosome 9, 94486127: 94486127
316 ROR2 NM_004560.3(ROR2): c.2649G> A (p.Met883Ile) single nucleotide variant Uncertain significance rs373037095 GRCh38 Chromosome 9, 91723845: 91723845
317 ROR2 NM_004560.3(ROR2): c.2314T> A (p.Ser772Thr) single nucleotide variant Uncertain significance rs1057515680 GRCh37 Chromosome 9, 94486462: 94486462
318 ROR2 NM_004560.3(ROR2): c.2314T> A (p.Ser772Thr) single nucleotide variant Uncertain significance rs1057515680 GRCh38 Chromosome 9, 91724180: 91724180
319 ROR2 NM_004560.3(ROR2): c.2212C> T (p.Arg738Cys) single nucleotide variant Likely benign rs56231927 GRCh37 Chromosome 9, 94486564: 94486564
320 ROR2 NM_004560.3(ROR2): c.2212C> T (p.Arg738Cys) single nucleotide variant Likely benign rs56231927 GRCh38 Chromosome 9, 91724282: 91724282
321 ROR2 NM_004560.3(ROR2): c.1416G> A (p.Ala472=) single nucleotide variant Uncertain significance rs201064212 GRCh37 Chromosome 9, 94487360: 94487360
322 ROR2 NM_004560.3(ROR2): c.1416G> A (p.Ala472=) single nucleotide variant Uncertain significance rs201064212 GRCh38 Chromosome 9, 91725078: 91725078
323 ROR2 NM_004560.3(ROR2): c.935G> A (p.Arg312His) single nucleotide variant Likely benign rs188376581 GRCh37 Chromosome 9, 94495406: 94495406
324 ROR2 NM_004560.3(ROR2): c.935G> A (p.Arg312His) single nucleotide variant Likely benign rs188376581 GRCh38 Chromosome 9, 91733124: 91733124
325 ROR2 NM_004560.3(ROR2): c.751C> T (p.Leu251=) single nucleotide variant Likely benign rs368471121 GRCh38 Chromosome 9, 91733308: 91733308
326 ROR2 NM_004560.3(ROR2): c.751C> T (p.Leu251=) single nucleotide variant Likely benign rs368471121 GRCh37 Chromosome 9, 94495590: 94495590
327 ROR2 NM_004560.3(ROR2): c.744G> A (p.Pro248=) single nucleotide variant Likely benign rs757948078 GRCh38 Chromosome 9, 91733315: 91733315
328 ROR2 NM_004560.3(ROR2): c.744G> A (p.Pro248=) single nucleotide variant Likely benign rs757948078 GRCh37 Chromosome 9, 94495597: 94495597
329 ROR2 NM_004560.3(ROR2): c.717C> T (p.Cys239=) single nucleotide variant Likely benign rs56302651 GRCh38 Chromosome 9, 91733342: 91733342
330 ROR2 NM_004560.3(ROR2): c.717C> T (p.Cys239=) single nucleotide variant Likely benign rs56302651 GRCh37 Chromosome 9, 94495624: 94495624
331 ROR2 NM_004560.3(ROR2): c.-91G> A single nucleotide variant Likely benign rs141262722 GRCh37 Chromosome 9, 94712336: 94712336
332 ROR2 NM_004560.3(ROR2): c.-91G> A single nucleotide variant Likely benign rs141262722 GRCh38 Chromosome 9, 91950054: 91950054
333 ROR2 NM_004560.3(ROR2): c.-121A> C single nucleotide variant Uncertain significance rs555789981 GRCh37 Chromosome 9, 94712366: 94712366
334 ROR2 NM_004560.3(ROR2): c.-121A> C single nucleotide variant Uncertain significance rs555789981 GRCh38 Chromosome 9, 91950084: 91950084
335 ROR2 NM_004560.3(ROR2): c.-154G> C single nucleotide variant Uncertain significance rs1057515684 GRCh37 Chromosome 9, 94712399: 94712399
336 ROR2 NM_004560.3(ROR2): c.-154G> C single nucleotide variant Uncertain significance rs1057515684 GRCh38 Chromosome 9, 91950117: 91950117
337 ROR2 NM_004560.3(ROR2): c.*520C> T single nucleotide variant Uncertain significance rs367760102 GRCh37 Chromosome 9, 94485424: 94485424
338 ROR2 NM_004560.3(ROR2): c.*520C> T single nucleotide variant Uncertain significance rs367760102 GRCh38 Chromosome 9, 91723142: 91723142
339 ROR2 NM_004560.3(ROR2): c.2277G> A (p.Ala759=) single nucleotide variant Likely benign rs369491865 GRCh37 Chromosome 9, 94486499: 94486499
340 ROR2 NM_004560.3(ROR2): c.2277G> A (p.Ala759=) single nucleotide variant Likely benign rs369491865 GRCh38 Chromosome 9, 91724217: 91724217
341 ROR2 NM_004560.3(ROR2): c.1720G> T (p.Val574Leu) single nucleotide variant Likely benign rs140579674 GRCh37 Chromosome 9, 94487056: 94487056
342 ROR2 NM_004560.3(ROR2): c.1720G> T (p.Val574Leu) single nucleotide variant Likely benign rs140579674 GRCh38 Chromosome 9, 91724774: 91724774
343 ROR2 NM_004560.3(ROR2): c.1552C> T (p.Arg518Trp) single nucleotide variant Likely benign rs148896640 GRCh37 Chromosome 9, 94487224: 94487224
344 ROR2 NM_004560.3(ROR2): c.1552C> T (p.Arg518Trp) single nucleotide variant Likely benign rs148896640 GRCh38 Chromosome 9, 91724942: 91724942
345 ROR2 NM_004560.3(ROR2): c.471G> A (p.Thr157=) single nucleotide variant Likely benign rs78781083 GRCh38 Chromosome 9, 91756094: 91756094
346 ROR2 NM_004560.3(ROR2): c.471G> A (p.Thr157=) single nucleotide variant Likely benign rs78781083 GRCh37 Chromosome 9, 94518376: 94518376
347 ROR2 NM_004560.3(ROR2): c.153C> T (p.Asp51=) single nucleotide variant Likely benign rs572950289 GRCh37 Chromosome 9, 94538045: 94538045
348 ROR2 NM_004560.3(ROR2): c.153C> T (p.Asp51=) single nucleotide variant Likely benign rs572950289 GRCh38 Chromosome 9, 91775763: 91775763
349 ROR2 NM_004560.3(ROR2): c.-102G> T single nucleotide variant Uncertain significance rs932588990 GRCh37 Chromosome 9, 94712347: 94712347
350 ROR2 NM_004560.3(ROR2): c.-102G> T single nucleotide variant Uncertain significance rs932588990 GRCh38 Chromosome 9, 91950065: 91950065
351 WNT5A NM_003392.4(WNT5A): c.487_492dup (p.Cys164_Ser165insGlyCys) duplication Likely pathogenic GRCh37 Chromosome 3, 55508557: 55508562
352 WNT5A NM_003392.4(WNT5A): c.487_492dup (p.Cys164_Ser165insGlyCys) duplication Likely pathogenic GRCh38 Chromosome 3, 55474529: 55474534
353 WNT5A NM_003392.4(WNT5A): c.479C> G (p.Ser160Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 55508570: 55508570
354 WNT5A NM_003392.4(WNT5A): c.479C> G (p.Ser160Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 55474542: 55474542

Expression for Robinow Syndrome

Search GEO for disease gene expression data for Robinow Syndrome.

Pathways for Robinow Syndrome

Pathways related to Robinow Syndrome according to KEGG:

37 (showing 1, show less)
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Robinow Syndrome

Biological processes related to Robinow Syndrome according to GeneCards Suite gene sharing:

(showing 21, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.99 DVL1 DVL3 IGF1 ROR2 WNT5A
2 regulation of signaling receptor activity GO:0010469 9.95 CGA GNRH1 IGF1 INHA WNT5A
3 negative regulation of apoptotic process GO:0043066 9.91 BCL2A1 GNRH1 IGF1 ROR2 TWIST1 WNT5A
4 Wnt signaling pathway GO:0016055 9.86 DVL1 DVL3 ROR2 WNT5A
5 positive regulation of cell migration GO:0030335 9.84 ATP8A1 CGA IGF1 ROR2
6 negative regulation of canonical Wnt signaling pathway GO:0090090 9.8 DVL1 DVL3 ROR2 WNT5A
7 canonical Wnt signaling pathway GO:0060070 9.75 DVL1 DVL3 WNT5A
8 positive regulation of epithelial cell proliferation GO:0050679 9.7 IGF1 TWIST1 WNT5A
9 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.62 DVL1 DVL3 ROR2 WNT5A
10 beta-catenin destruction complex disassembly GO:1904886 9.6 DVL1 DVL3
11 positive regulation of transcription regulatory region DNA binding GO:2000679 9.58 IGF1 TWIST1
12 positive regulation of JUN kinase activity GO:0043507 9.58 DVL3 ROR2 WNT5A
13 presynapse assembly GO:0099054 9.57 DVL1 WNT5A
14 non-canonical Wnt signaling pathway GO:0035567 9.54 DVL1 DVL3 WNT5A
15 positive regulation of protein kinase C activity GO:1900020 9.51 ROR2 WNT5A
16 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.48 DVL3 WNT5A
17 convergent extension involved in organogenesis GO:0060029 9.46 DVL1 WNT5A
18 embryonic digit morphogenesis GO:0042733 9.46 LMBR1 ROR2 TWIST1 WNT5A
19 regulation of cellular protein localization GO:1903827 9.43 DVL1 DVL3 WNT5A
20 planar cell polarity pathway involved in neural tube closure GO:0090179 9.13 DVL1 DVL3 WNT5A
21 positive regulation of neuron projection arborization GO:0150012 8.8 DVL1 DVL3 WNT5A

Molecular functions related to Robinow Syndrome according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.26 CGA GNRH1 IGF1 INHA
2 frizzled binding GO:0005109 8.92 DVL1 DVL3 ROR2 WNT5A

Sources for Robinow Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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