MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Craniofacial Abnormalities (D019465)
Parent Node:
expand
Dwarfism (D004392)
Parent Node:
expand
Limb Deformities, Congenital (D017880)
Parent Node:
expand
Urogenital Abnormalities (D014564)
..Starting node
..expand
Robinow Syndrome, Autosomal Dominant (C562492)

       Child Nodes:



 Sister Nodes: 
..expandAllanson Pantzar McLeod syndrome (C537048) Child1
..expandANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..expandAtrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBladder Exstrophy (D001746) Child1
..expandBlepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..expandBRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
..expandCakut (C566906)
..expandCalabro syndrome (C537960)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCryptorchidism (D003456) Child12
..expandDisorders of Sex Development (D012734) Child107
..expandDK Phocomelia Syndrome (C565618)
..expandDuker Weiss Siber syndrome (C535719)
..expandEpispadias (D004842) Child1
..expandFraser Syndrome (D058497)
..expandFused Kidney (D000069337)
..expandGenitopatellar Syndrome (C565255)
..expandGenitourinary Tract Anomalies (C564424)
..expandHand foot uterus syndrome (C535627)
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..expandHypospadias (D007021) Child17
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLissencephaly, X-Linked, 2 (C564563)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMIRAGE SYNDROME (OMIM:617053)
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandMyotubular Myopathy with Abnormal Genital Development (C564561)
..expandNephritis, Hereditary (D009394) Child11
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPopliteal Pterygium Syndrome (C562509)
..expandProud Syndrome (C563110)
..expandPyelectasis (D058536)
..expandRenal Adysplasia (C563261)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal, Genital, and Middle Ear Anomalies (C564849)
..expandRetrocaval Ureter (D064749)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSolitary Kidney (D000075529)
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandUreter, Bifid Or Double (C566012)
..expandUrinary Fistula (D014548) Child2
..expandUterine Anomalies (C562565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10879
Name:Robinow Syndrome, Autosomal Dominant
Definition:
Alternative IDs:DO:DOID:0060254|OMIM:180700|OMIM:616331|OMIM:616894
ParentIDs:MESH:D004392|MESH:D014564|MESH:D017880|MESH:D019465
TreeNumbers:C05.116.099.343/C562492 |C05.660.207/C562492 |C05.660.585/C562492 |C12.706/C562492 |C13.351.875/C562492 |C16.131.621.207/C562492 |C16.131.621.585/C562492 |C16.131.939/C562492 |C16.320.240/C562492 |C19.297/C562492
Synonyms:Acral Dysostosis with Facial and Genital Abnormalities |DRS1 |DRS2 |DRS3 |Fetal Face Syndrome |Mesomelic Dwarfism-Small Genitalia Syndrome |Robinow Dwarfism |Robinow-Silverman-Smith Syndrome |Robinow Syndrome |ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 |ROBINOW SYNDRO
Slim Mappings:Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C562492
MeSH: C562492
OMIM: 180700;
MSeqDR LSDB:  
Genes: DVL1; WNT5A;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000463Anteverted nares
3 HP:0000463Anteverted naresHP:0040284
4 HP:0001853Bifid distal phalanx of toe
5 HP:0010297Bifid tongueHP:0040284
6 HP:0001156Brachydactyly
7 HP:0011304Broad thumb
8 HP:0001837Broad toe
9 HP:0030084Clinodactyly
10 HP:0000060Clitoral hypoplasia
11 HP:0000028Cryptorchidism
12 HP:0000684Delayed eruption of teeth
13 HP:0002750Delayed skeletal maturation
14 HP:0000678Dental crowding
15 HP:0005280Depressed nasal bridgeHP:0040284
16 HP:0000494Downslanted palpebral fissures
17 HP:0002714Downturned corners of mouthHP:0040284
18 HP:0009883Duplication of the distal phalanx of hand
19 HP:0000286EpicanthusHP:0040284
20 HP:0012368Flat face
21 HP:0002007Frontal bossing
22 HP:0000212Gingival overgrowth
23 HP:0001263Global developmental delay
NAMDC:  Mental retardation
24 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
25 HP:0000218High palateHP:0040284
26 HP:0000126Hydronephrosis
27 HP:0000316Hypertelorism
28 HP:0000059Hypoplastic labia majora
29 HP:0000023Inguinal hernia
30 HP:0001249Intellectual disability
31 HP:0000527Long eyelashesHP:0040284
32 HP:0000637Long palpebral fissure
33 HP:0000343Long philtrum
34 HP:0000369Low-set earsHP:0040284
35 HP:0000256Macrocephaly
36 HP:0000158Macroglossia
37 HP:0000272Malar flattening
38 HP:0003027Mesomelia
39 HP:0000347Micrognathia
40 HP:0000054Micropenis
41 HP:0011800Midface retrusion
42 HP:0002164Nail dysplasiaHP:0040284
43 HP:0000189Narrow palateHP:0040284
44 HP:0001052Nevus flammeus
45 HP:0000202Oral cleftHP:0040284
46 HP:0000767Pectus excavatum
47 HP:0000358Posteriorly rotated ears
48 HP:0000520Proptosis
49 HP:0009466Radial deviation of finger
50 HP:0000075Renal duplication
51 HP:0000278RetrognathiaHP:0040284
52 HP:0008905RhizomeliaHP:0040284
53 HP:0001705Right ventricular outlet obstruction
54 HP:0010290Short hard palate
55 HP:0004220Short middle phalanx of the 5th finger
56 HP:0000470Short neckHP:0040284
57 HP:0003196Short noseHP:0040284
58 HP:0004279Short palm
59 HP:0200055Small handHP:0040284
60 HP:0000219Thin upper lip vermilion
61 HP:0000219Thin upper lip vermilionHP:0040284
62 HP:0000207Triangular mouth
63 HP:0001537Umbilical hernia
64 HP:0000582Upslanted palpebral fissureHP:0040284
65 HP:0000260Wide anterior fontanel
66 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001330311.2(DVL1):c.2078_*7del (p.Asp693_Ter696delinsXaa)1855DVL1Uncertain significance1643562079RCV001198305; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973601127151512715321:g.1271515_1271532del-
NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs)1855DVL1Likely pathogenic1643642110RCV001198409; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973601127338712733881:g.1273387_1273388insGC-
NM_001330311.2(DVL1):c.1637del (p.Pro546fs)1855DVL1Pathogenic797044839RCV000193267|RCV002247612; NMONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973601127343412734341:g.1273434_1273434delClinGen:CA347379,OMIM:601365.0005C4225363 616331 Robinow syndrome, autosomal dominant 2;
NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser)1855DVL1Uncertain significance780909370RCV001326669|RCV002499644; NMedGen:CN517202|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360; MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973601127370212737021273702-
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)1855DVL1Likely benign140107023RCV000514391|RCV002496982; NMedGen:C3661900|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360; MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973601127379012737901:g.1273790T>CClinGen:CA520107CN517202 not provided;
NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp)1855DVL1Conflicting interpretations of pathogenicity142925511RCV000892759|RCV001198171|RCV002539401; NMedGen:CN517202|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MeSH:D030342,MedGen:C09501231127746612774661:g.1277466G>A-
NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys)1855DVL1Uncertain significance762913745RCV002009910|RCV002492221; NMedGen:C3661900|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360; MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973601127751712775171277517-
NM_001330311.2(DVL1):c.272C>T (p.Ala91Val)1855DVL1Benign/Likely benign145496306RCV000971452|RCV002505473; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360; MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:973601127783312778331:g.1277833G>A-
NM_004423.4(DVL3):c.1585del (p.Ala529fs)1857DVL3Pathogenic869025215RCV000208632|RCV000210480|RCV003126593; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014819,MedGen:C4225164,OMIM:616894, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:9736031838878761838878763:g.183887876_183887876delClinGen:CA356445,OMIM:601368.0003C0265205 180700 Robinow syndrome;
NM_004423.4(DVL3):c.1715-2A>G1857DVL3Pathogenic869025216RCV000208665|RCV000210487|RCV003126594; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014819,MedGen:C4225164,OMIM:616894, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:9736031838881051838881053:g.183888105A>GClinGen:CA356449,OMIM:601368.0005C0265205 180700 Robinow syndrome;
NM_004423.4(DVL3):c.1715-2A>C1857DVL3Pathogenic869025216RCV000856748; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736031838881051838881053:g.183888105A>C-
NM_004423.4(DVL3):c.1715-1G>A1857DVL3Pathogenic/Likely pathogenic869025217RCV000208714|RCV000210483|RCV003126595; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014819,MedGen:C4225164,OMIM:616894, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:9736031838881061838881063:g.183888106G>AClinGen:CA356447,OMIM:601368.0004C0265205 180700 Robinow syndrome;
NM_004423.4(DVL3):c.1716del (p.Ser573fs)1857DVL3Pathogenic869025218RCV000208637|RCV000210486|RCV003126596; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014819,MedGen:C4225164,OMIM:616894, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:9736031838881081838881083:g.183888108_183888108delClinGen:CA356448,OMIM:601368.0002C0265205 180700 Robinow syndrome;
NM_004423.4(DVL3):c.1749del (p.Ser583fs)1857DVL3Pathogenic869025219RCV000208671|RCV000210482|RCV003126597; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014819,MedGen:C4225164,OMIM:616894, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:9736031838881411838881413:g.183888141_183888141delClinGen:CA356446,OMIM:601368.0001C0265205 180700 Robinow syndrome;
NM_001466.4(FZD2):c.367_388dup (p.Phe130fs)2535FZD2Pathogenic2144572390RCV001353075; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736017426354224263542342635422-
NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)2535FZD2Likely pathogenic1223920489RCV000577904|RCV001353073; NMONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736017426363564263635617:g.42636356G>AClinGen:CA399798728C4225363 616331 Robinow syndrome, autosomal dominant 2;
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)2535FZD2Pathogenic1568105666RCV000754771|RCV000989930|RCV001353074; NMONDO:MONDO:0008123,MedGen:C2750355,OMIM:164745, Orphanet:2733, Orphanet:93328|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360174263670042636700NC_000017.10:g.42636700G>AOMIM:600667.0001
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)4920ROR2Benign10761129RCV000147389|RCV000344414|RCV000382446|RCV001095340|RCV001522558; NMedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000, Orphanet:572385, Orphanet:93383|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310, Orphanet:1507, Orphanet:97360|MedG994486321944863219:g.94486321C>TClinGen:CA173328,UniProtKB:Q01974#VAR_010913C0221357 Brachydactyly;
NM_003392.7(WNT5A):c.*4179dup7474WNT5ABenign56661203RCV000384915; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035549994055499941NC_000003.11:g.55499949dupClinGen:CA10616450C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*3932CT[3]7474WNT5AUncertain significance886058733RCV000296270; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550018155500182NC_000003.11:g.55500182GA[3]ClinGen:CA10619284C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*2731dup7474WNT5AUncertain significance886058737RCV000336309; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360355501388555013893:g.55501388_55501389insTClinGen:CA10619207C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*2728_*2730del7474WNT5AUncertain significance886058738RCV000374621; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360355501390555013923:g.55501390_55501392delClinGen:CA10616457C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*2728del7474WNT5AUncertain significance142609857RCV000282387; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550139255501392NC_000003.11:g.55501392delClinGen:CA10619208C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*2711_*2713del7474WNT5AUncertain significance760058727RCV000339679; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550140755501409NC_000003.11:g.55501408_55501410delClinGen:CA10616460C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*2711del7474WNT5AUncertain significance374459457RCV000394544; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550140955501409NC_000003.11:g.55501409delClinGen:CA10616463C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*1952_*1953dup7474WNT5AConflicting interpretations of pathogenicity78756487RCV000369418|RCV001785582; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN51720235550216655502167NC_000003.11:g.55502183_55502184dupClinGen:CA10617091C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*1953dup7474WNT5AConflicting interpretations of pathogenicity78756487RCV000312477|RCV001691990; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN51720235550216655502167NC_000003.11:g.55502184dupClinGen:CA10617096C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*1952_*1953del7474WNT5AConflicting interpretations of pathogenicity78756487RCV000277253|RCV001683379; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN51720235550216755502168NC_000003.11:g.55502183_55502184delClinGen:CA10619214C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*1452AATATA[4]7474WNT5ALikely benign538418882RCV000379984; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550265055502651NC_000003.11:g.55502656TTATAT[4]ClinGen:CA10619294C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*1444TA[5]7474WNT5AUncertain significance886058741RCV000287801; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550266855502669NC_000003.11:g.55502670AT[5]ClinGen:CA10619296C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*1428TA[8]7474WNT5AUncertain significance374828022RCV000396024; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550267855502679NC_000003.11:g.55502680AT[8]ClinGen:CA10619223C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.*1428TA[6]7474WNT5AUncertain significance374828022RCV000291354; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550267955502680NC_000003.11:g.55502680AT[6]ClinGen:CA10619299C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.1123G>A (p.Asp375Asn)7474WNT5AUncertain significance763566950RCV001323469|RCV003135973; NMedGen:CN517202|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555041405550414055504140-
NM_003392.7(WNT5A):c.1005C>T (p.Cys335=)7474WNT5AUncertain significance762576376RCV001361896|RCV002493847; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555042585550425855504258-
NM_003392.7(WNT5A):c.937G>A (p.Glu313Lys)7474WNT5AUncertain significance369701725RCV002006539|RCV002486545; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555043265550432655504326-
NM_003392.7(WNT5A):c.890A>G (p.Gln297Arg)7474WNT5AUncertain significance-1RCV003139365; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550437355504373NC_000003.11:g.55504373T>C-
NM_003392.7(WNT5A):c.807G>A (p.Lys269=)7474WNT5ABenign/Likely benign117338660RCV000943395|RCV002488757; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550445655504456NC_000003.11:g.55504456C>TClinGen:CA2458966C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.685A>G (p.Thr229Ala)7474WNT5AUncertain significance886058744RCV001597513|RCV002501965; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550457855504578NC_000003.11:g.55504578T>C-C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.684+18C>A7474WNT5ALikely benign1264331427RCV002121802|RCV002500233; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555083475550834755508347-
NM_003392.7(WNT5A):c.634G>A (p.Glu212Lys)7474WNT5AUncertain significance766388444RCV001350914|RCV002476613; NMedGen:CN517202|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555084155550841555508415-
NM_003392.7(WNT5A):c.554A>G (p.Asn185Ser)7474WNT5AUncertain significance771010789RCV001932186|RCV002490006; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555084955550849555508495-
NM_003392.7(WNT5A):c.547G>A (p.Gly183Ser)7474WNT5AUncertain significance1393089710RCV001270765; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360355508502555085023:g.55508502C>T-
NM_003392.7(WNT5A):c.545G>C (p.Cys182Ser)7474WNT5Anot provided869312850RCV000192022; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035550850455508504NC_000003.11:g.55508504C>GClinGen:CA347069C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.544T>C (p.Cys182Arg)7474WNT5APathogenic387906663RCV000022695; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360355508505555085053:g.55508505A>GClinGen:CA259668,UniProtKB:P41221#VAR_066629,OMIM:164975.0001C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.522G>T (p.Pro174=)7474WNT5ALikely benign559836923RCV002498238|RCV002214796; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C36619003555085275550852755508527-
NM_003392.7(WNT5A):c.502G>A (p.Ala168Thr)7474WNT5ABenign/Likely benign572796263RCV000956107|RCV002502972; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360355508547555085473:g.55508547C>T-
NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup)7474WNT5AConflicting interpretations of pathogenicity1553677967RCV000577908|RCV001597177; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN517202355508556555085573:g.55508556_55508557insGCAGCCClinGen:CA658657320C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg)7474WNT5AConflicting interpretations of pathogenicity587784562RCV000147988|RCV001850013; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN517202355508562555085623:g.55508562C>GClinGen:CA272818C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.479C>G (p.Ser160Cys)7474WNT5ALikely pathogenic1553677971RCV000577882; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360355508570555085703:g.55508570G>CClinGen:CA353275502C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe)7474WNT5AUncertain significance2051315439RCV001334139; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555085885550858855508588-
NM_003392.7(WNT5A):c.448A>G (p.Met150Val)7474WNT5AUncertain significance750679240RCV001979105|RCV002507653; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555086015550860155508601-
NM_003392.7(WNT5A):c.391+11A>G7474WNT5AConflicting interpretations of pathogenicity6790979RCV000147986|RCV001557050; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C366190035551333155513331NC_000003.11:g.55513331T>CClinGen:CA272817C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.291G>A (p.Ala97=)7474WNT5ALikely benign762941459RCV000906932|RCV002495484; NMedGen:CN517202|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360355513442555134423:g.55513442C>T-
NM_003392.7(WNT5A):c.290C>T (p.Ala97Val)7474WNT5AUncertain significance2051414784RCV001926005|RCV002484482; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555134435551344355513443-
NM_003392.7(WNT5A):c.257A>G (p.Tyr86Cys)7474WNT5APathogenic786204836RCV000169740; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035551347655513476NC_000003.11:g.55513476T>CClinGen:CA346838,OMIM:164975.0003C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.248G>C (p.Cys83Ser)7474WNT5APathogenic786200925RCV000022696; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035551348555513485NC_000003.11:g.55513485C>GClinGen:CA342716,UniProtKB:P41221#VAR_066623,OMIM:164975.0002C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr)7474WNT5ALikely pathogenic786200925RCV001353076|RCV002462889; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C36619003555134855551348555513485-
NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly)7474WNT5ALikely pathogenic2106946273RCV001353077; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555134865551348655513486-
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr)7474WNT5AUncertain significance786204837RCV000169741; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035551352755513527NC_000003.11:g.55513527C>TClinGen:CA346840,OMIM:164975.0004C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.206G>T (p.Cys69Phe)7474WNT5APathogenic786204837RCV001376107; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555135275551352755513527-
NM_003392.7(WNT5A):c.157A>T (p.Asn53Tyr)7474WNT5AUncertain significance-1RCV003336620; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035551357655513576-
NM_003392.7(WNT5A):c.141-8C>G7474WNT5AConflicting interpretations of pathogenicity188798140RCV000147983|RCV000924585; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C366190035551360055513600NC_000003.11:g.55513600G>CClinGen:CA272814C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.141-9C>T7474WNT5AUncertain significance181894008RCV000147985; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035551360155513601NC_000003.11:g.55513601G>AClinGen:CA272816C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.141-9C>G7474WNT5AConflicting interpretations of pathogenicity181894008RCV000147984|RCV000897286; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C366190035551360155513601NC_000003.11:g.55513601G>CClinGen:CA272815C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.140+14A>G7474WNT5AConflicting interpretations of pathogenicity139616809RCV000147982|RCV002055943; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C366190035551479955514799NC_000003.11:g.55514799T>CClinGen:CA272813C0265205 180700 Robinow syndrome;
NM_003392.7(WNT5A):c.115G>C (p.Val39Leu)7474WNT5AUncertain significance1369701937RCV001254609|RCV001879915; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C3661900355514838555148383:g.55514838C>G-
NM_003392.7(WNT5A):c.41del (p.Leu14fs)7474WNT5AUncertain significance2106955417RCV002255088; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555149125551491255514911-
NM_003392.7(WNT5A):c.20T>C (p.Ile7Thr)7474WNT5AConflicting interpretations of pathogenicity554762368RCV002206857|RCV002562288|RCV003389348; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555149335551493355514933-
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr)7474WNT5ABenign/Likely benign200914260RCV000363742|RCV000964936|RCV002504007; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360355514939555149393:g.55514939A>GClinGen:CA2459138CN169374 not specified;
NM_003392.7(WNT5A):c.6+18T>A7474WNT5ALikely benign192224802RCV002091868|RCV002500141; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555209905552099055520990-
NM_003392.7(WNT5A):c.-6C>A7474WNT5AUncertain significance372156419RCV001752627|RCV002488580; NMedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:973603555210195552101955521019-
NM_003392.6(WNT5A):c.-394_-392delCCA7474WNT5AUncertain significance886058749RCV000359450; NMONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:9736035552140455521406NC_000003.11:g.55521405_55521407delClinGen:CA10616479C0265205 180700 Robinow syndrome;
MSeqDR Portal