Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001330311.2(DVL1):c.2078_*7del (p.Asp693_Ter696delinsXaa) | 1855 | DVL1 | Uncertain significance | 1643562079 | RCV001198305; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 1 | 1271515 | 1271532 | | | 1:g.1271515_1271532del | - | | |
NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs) | 1855 | DVL1 | Likely pathogenic | 1643642110 | RCV001198409; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 1 | 1273387 | 1273388 | | | 1:g.1273387_1273388insGC | - | | |
NM_001330311.2(DVL1):c.1637del (p.Pro546fs) | 1855 | DVL1 | Pathogenic | 797044839 | RCV000193267|RCV002247612; | N | MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 1 | 1273434 | 1273434 | | | 1:g.1273434_1273434del | ClinGen:CA347379,OMIM:601365.0005 | C4225363 616331 Robinow syndrome, autosomal dominant 2; | |
NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser) | 1855 | DVL1 | Uncertain significance | 780909370 | RCV001326669|RCV002499644; | N | MedGen:CN517202|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360; MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 1 | 1273702 | 1273702 | | | 1273702 | - | | |
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) | 1855 | DVL1 | Likely benign | 140107023 | RCV000514391|RCV002496982; | N | MedGen:C3661900|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360; MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 1 | 1273790 | 1273790 | | | 1:g.1273790T>C | ClinGen:CA520107 | CN517202 not provided; | |
NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp) | 1855 | DVL1 | Conflicting interpretations of pathogenicity | 142925511 | RCV000892759|RCV001198171|RCV002539401; | N | MedGen:CN517202|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MeSH:D030342,MedGen:C0950123 | 1 | 1277466 | 1277466 | | | 1:g.1277466G>A | - | | |
NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys) | 1855 | DVL1 | Uncertain significance | 762913745 | RCV002009910|RCV002492221; | N | MedGen:C3661900|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360; MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 1 | 1277517 | 1277517 | | | 1277517 | - | | |
NM_001330311.2(DVL1):c.272C>T (p.Ala91Val) | 1855 | DVL1 | Benign/Likely benign | 145496306 | RCV000971452|RCV002505473; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360; MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360 | 1 | 1277833 | 1277833 | | | 1:g.1277833G>A | - | | |
NM_004423.4(DVL3):c.1585del (p.Ala529fs) | 1857 | DVL3 | Pathogenic | 869025215 | RCV000208632|RCV000210480|RCV003126593; | N | MONDO: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:97360 | 3 | 183887876 | 183887876 | | | 3:g.183887876_183887876del | ClinGen:CA356445,OMIM:601368.0003 | C0265205 180700 Robinow syndrome; | |
NM_004423.4(DVL3):c.1715-2A>G | 1857 | DVL3 | Pathogenic | 869025216 | RCV000208665|RCV000210487|RCV003126594; | N | MONDO: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:97360 | 3 | 183888105 | 183888105 | | | 3:g.183888105A>G | ClinGen:CA356449,OMIM:601368.0005 | C0265205 180700 Robinow syndrome; | |
NM_004423.4(DVL3):c.1715-2A>C | 1857 | DVL3 | Pathogenic | 869025216 | RCV000856748; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 183888105 | 183888105 | | | 3:g.183888105A>C | - | | |
NM_004423.4(DVL3):c.1715-1G>A | 1857 | DVL3 | Pathogenic/Likely pathogenic | 869025217 | RCV000208714|RCV000210483|RCV003126595; | N | MONDO: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:97360 | 3 | 183888106 | 183888106 | | | 3:g.183888106G>A | ClinGen:CA356447,OMIM:601368.0004 | C0265205 180700 Robinow syndrome; | |
NM_004423.4(DVL3):c.1716del (p.Ser573fs) | 1857 | DVL3 | Pathogenic | 869025218 | RCV000208637|RCV000210486|RCV003126596; | N | MONDO: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:97360 | 3 | 183888108 | 183888108 | | | 3:g.183888108_183888108del | ClinGen:CA356448,OMIM:601368.0002 | C0265205 180700 Robinow syndrome; | |
NM_004423.4(DVL3):c.1749del (p.Ser583fs) | 1857 | DVL3 | Pathogenic | 869025219 | RCV000208671|RCV000210482|RCV003126597; | N | MONDO: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:97360 | 3 | 183888141 | 183888141 | | | 3:g.183888141_183888141del | ClinGen:CA356446,OMIM:601368.0001 | C0265205 180700 Robinow syndrome; | |
NM_001466.4(FZD2):c.367_388dup (p.Phe130fs) | 2535 | FZD2 | Pathogenic | 2144572390 | RCV001353075; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 17 | 42635422 | 42635423 | | | 42635422 | - | | |
NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser) | 2535 | FZD2 | Likely pathogenic | 1223920489 | RCV000577904|RCV001353073; | N | MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331, Orphanet:3107, Orphanet:97360|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 17 | 42636356 | 42636356 | | | 17:g.42636356G>A | ClinGen:CA399798728 | C4225363 616331 Robinow syndrome, autosomal dominant 2; | |
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) | 2535 | FZD2 | Pathogenic | 1568105666 | RCV000754771|RCV000989930|RCV001353074; | N | MONDO: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:97360 | 17 | 42636700 | 42636700 | | | NC_000017.10:g.42636700G>A | OMIM:600667.0001 | | |
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) | 4920 | ROR2 | Benign | 10761129 | RCV000147389|RCV000344414|RCV000382446|RCV001095340|RCV001522558; | N | MedGen: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|MedG | 9 | 94486321 | 94486321 | | | 9:g.94486321C>T | ClinGen:CA173328,UniProtKB:Q01974#VAR_010913 | C0221357 Brachydactyly; | |
NM_003392.7(WNT5A):c.*4179dup | 7474 | WNT5A | Benign | 56661203 | RCV000384915; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55499940 | 55499941 | | | NC_000003.11:g.55499949dup | ClinGen:CA10616450 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*3932CT[3] | 7474 | WNT5A | Uncertain significance | 886058733 | RCV000296270; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55500181 | 55500182 | | | NC_000003.11:g.55500182GA[3] | ClinGen:CA10619284 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*2731dup | 7474 | WNT5A | Uncertain significance | 886058737 | RCV000336309; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55501388 | 55501389 | | | 3:g.55501388_55501389insT | ClinGen:CA10619207 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*2728_*2730del | 7474 | WNT5A | Uncertain significance | 886058738 | RCV000374621; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55501390 | 55501392 | | | 3:g.55501390_55501392del | ClinGen:CA10616457 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*2728del | 7474 | WNT5A | Uncertain significance | 142609857 | RCV000282387; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55501392 | 55501392 | | | NC_000003.11:g.55501392del | ClinGen:CA10619208 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*2711_*2713del | 7474 | WNT5A | Uncertain significance | 760058727 | RCV000339679; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55501407 | 55501409 | | | NC_000003.11:g.55501408_55501410del | ClinGen:CA10616460 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*2711del | 7474 | WNT5A | Uncertain significance | 374459457 | RCV000394544; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55501409 | 55501409 | | | NC_000003.11:g.55501409del | ClinGen:CA10616463 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*1952_*1953dup | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 78756487 | RCV000369418|RCV001785582; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN517202 | 3 | 55502166 | 55502167 | | | NC_000003.11:g.55502183_55502184dup | ClinGen:CA10617091 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*1953dup | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 78756487 | RCV000312477|RCV001691990; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN517202 | 3 | 55502166 | 55502167 | | | NC_000003.11:g.55502184dup | ClinGen:CA10617096 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*1952_*1953del | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 78756487 | RCV000277253|RCV001683379; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN517202 | 3 | 55502167 | 55502168 | | | NC_000003.11:g.55502183_55502184del | ClinGen:CA10619214 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*1452AATATA[4] | 7474 | WNT5A | Likely benign | 538418882 | RCV000379984; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55502650 | 55502651 | | | NC_000003.11:g.55502656TTATAT[4] | ClinGen:CA10619294 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*1444TA[5] | 7474 | WNT5A | Uncertain significance | 886058741 | RCV000287801; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55502668 | 55502669 | | | NC_000003.11:g.55502670AT[5] | ClinGen:CA10619296 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*1428TA[8] | 7474 | WNT5A | Uncertain significance | 374828022 | RCV000396024; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55502678 | 55502679 | | | NC_000003.11:g.55502680AT[8] | ClinGen:CA10619223 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.*1428TA[6] | 7474 | WNT5A | Uncertain significance | 374828022 | RCV000291354; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55502679 | 55502680 | | | NC_000003.11:g.55502680AT[6] | ClinGen:CA10619299 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.1123G>A (p.Asp375Asn) | 7474 | WNT5A | Uncertain significance | 763566950 | RCV001323469|RCV003135973; | N | MedGen:CN517202|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55504140 | 55504140 | | | 55504140 | - | | |
NM_003392.7(WNT5A):c.1005C>T (p.Cys335=) | 7474 | WNT5A | Uncertain significance | 762576376 | RCV001361896|RCV002493847; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55504258 | 55504258 | | | 55504258 | - | | |
NM_003392.7(WNT5A):c.937G>A (p.Glu313Lys) | 7474 | WNT5A | Uncertain significance | 369701725 | RCV002006539|RCV002486545; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55504326 | 55504326 | | | 55504326 | - | | |
NM_003392.7(WNT5A):c.890A>G (p.Gln297Arg) | 7474 | WNT5A | Uncertain significance | -1 | RCV003139365; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55504373 | 55504373 | | | NC_000003.11:g.55504373T>C | - | | |
NM_003392.7(WNT5A):c.807G>A (p.Lys269=) | 7474 | WNT5A | Benign/Likely benign | 117338660 | RCV000943395|RCV002488757; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55504456 | 55504456 | | | NC_000003.11:g.55504456C>T | ClinGen:CA2458966 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.685A>G (p.Thr229Ala) | 7474 | WNT5A | Uncertain significance | 886058744 | RCV001597513|RCV002501965; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55504578 | 55504578 | | | NC_000003.11:g.55504578T>C | - | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.684+18C>A | 7474 | WNT5A | Likely benign | 1264331427 | RCV002121802|RCV002500233; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508347 | 55508347 | | | 55508347 | - | | |
NM_003392.7(WNT5A):c.634G>A (p.Glu212Lys) | 7474 | WNT5A | Uncertain significance | 766388444 | RCV001350914|RCV002476613; | N | MedGen:CN517202|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508415 | 55508415 | | | 55508415 | - | | |
NM_003392.7(WNT5A):c.554A>G (p.Asn185Ser) | 7474 | WNT5A | Uncertain significance | 771010789 | RCV001932186|RCV002490006; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508495 | 55508495 | | | 55508495 | - | | |
NM_003392.7(WNT5A):c.547G>A (p.Gly183Ser) | 7474 | WNT5A | Uncertain significance | 1393089710 | RCV001270765; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508502 | 55508502 | | | 3:g.55508502C>T | - | | |
NM_003392.7(WNT5A):c.545G>C (p.Cys182Ser) | 7474 | WNT5A | not provided | 869312850 | RCV000192022; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508504 | 55508504 | | | NC_000003.11:g.55508504C>G | ClinGen:CA347069 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.544T>C (p.Cys182Arg) | 7474 | WNT5A | Pathogenic | 387906663 | RCV000022695; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508505 | 55508505 | | | 3:g.55508505A>G | ClinGen:CA259668,UniProtKB:P41221#VAR_066629,OMIM:164975.0001 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.522G>T (p.Pro174=) | 7474 | WNT5A | Likely benign | 559836923 | RCV002498238|RCV002214796; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C3661900 | 3 | 55508527 | 55508527 | | | 55508527 | - | | |
NM_003392.7(WNT5A):c.502G>A (p.Ala168Thr) | 7474 | WNT5A | Benign/Likely benign | 572796263 | RCV000956107|RCV002502972; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508547 | 55508547 | | | 3:g.55508547C>T | - | | |
NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup) | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 1553677967 | RCV000577908|RCV001597177; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN517202 | 3 | 55508556 | 55508557 | | | 3:g.55508556_55508557insGCAGCC | ClinGen:CA658657320 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg) | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 587784562 | RCV000147988|RCV001850013; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:CN517202 | 3 | 55508562 | 55508562 | | | 3:g.55508562C>G | ClinGen:CA272818 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.479C>G (p.Ser160Cys) | 7474 | WNT5A | Likely pathogenic | 1553677971 | RCV000577882; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508570 | 55508570 | | | 3:g.55508570G>C | ClinGen:CA353275502 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe) | 7474 | WNT5A | Uncertain significance | 2051315439 | RCV001334139; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508588 | 55508588 | | | 55508588 | - | | |
NM_003392.7(WNT5A):c.448A>G (p.Met150Val) | 7474 | WNT5A | Uncertain significance | 750679240 | RCV001979105|RCV002507653; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55508601 | 55508601 | | | 55508601 | - | | |
NM_003392.7(WNT5A):c.391+11A>G | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 6790979 | RCV000147986|RCV001557050; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C3661900 | 3 | 55513331 | 55513331 | | | NC_000003.11:g.55513331T>C | ClinGen:CA272817 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.291G>A (p.Ala97=) | 7474 | WNT5A | Likely benign | 762941459 | RCV000906932|RCV002495484; | N | MedGen:CN517202|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55513442 | 55513442 | | | 3:g.55513442C>T | - | | |
NM_003392.7(WNT5A):c.290C>T (p.Ala97Val) | 7474 | WNT5A | Uncertain significance | 2051414784 | RCV001926005|RCV002484482; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55513443 | 55513443 | | | 55513443 | - | | |
NM_003392.7(WNT5A):c.257A>G (p.Tyr86Cys) | 7474 | WNT5A | Pathogenic | 786204836 | RCV000169740; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55513476 | 55513476 | | | NC_000003.11:g.55513476T>C | ClinGen:CA346838,OMIM:164975.0003 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.248G>C (p.Cys83Ser) | 7474 | WNT5A | Pathogenic | 786200925 | RCV000022696; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55513485 | 55513485 | | | NC_000003.11:g.55513485C>G | ClinGen:CA342716,UniProtKB:P41221#VAR_066623,OMIM:164975.0002 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr) | 7474 | WNT5A | Likely pathogenic | 786200925 | RCV001353076|RCV002462889; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C3661900 | 3 | 55513485 | 55513485 | | | 55513485 | - | | |
NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly) | 7474 | WNT5A | Likely pathogenic | 2106946273 | RCV001353077; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55513486 | 55513486 | | | 55513486 | - | | |
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr) | 7474 | WNT5A | Uncertain significance | 786204837 | RCV000169741; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55513527 | 55513527 | | | NC_000003.11:g.55513527C>T | ClinGen:CA346840,OMIM:164975.0004 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.206G>T (p.Cys69Phe) | 7474 | WNT5A | Pathogenic | 786204837 | RCV001376107; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55513527 | 55513527 | | | 55513527 | - | | |
NM_003392.7(WNT5A):c.157A>T (p.Asn53Tyr) | 7474 | WNT5A | Uncertain significance | -1 | RCV003336620; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55513576 | 55513576 | | | | - | | |
NM_003392.7(WNT5A):c.141-8C>G | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 188798140 | RCV000147983|RCV000924585; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C3661900 | 3 | 55513600 | 55513600 | | | NC_000003.11:g.55513600G>C | ClinGen:CA272814 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.141-9C>T | 7474 | WNT5A | Uncertain significance | 181894008 | RCV000147985; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55513601 | 55513601 | | | NC_000003.11:g.55513601G>A | ClinGen:CA272816 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.141-9C>G | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 181894008 | RCV000147984|RCV000897286; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C3661900 | 3 | 55513601 | 55513601 | | | NC_000003.11:g.55513601G>C | ClinGen:CA272815 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.140+14A>G | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 139616809 | RCV000147982|RCV002055943; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C3661900 | 3 | 55514799 | 55514799 | | | NC_000003.11:g.55514799T>C | ClinGen:CA272813 | C0265205 180700 Robinow syndrome; | |
NM_003392.7(WNT5A):c.115G>C (p.Val39Leu) | 7474 | WNT5A | Uncertain significance | 1369701937 | RCV001254609|RCV001879915; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360|MedGen:C3661900 | 3 | 55514838 | 55514838 | | | 3:g.55514838C>G | - | | |
NM_003392.7(WNT5A):c.41del (p.Leu14fs) | 7474 | WNT5A | Uncertain significance | 2106955417 | RCV002255088; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55514912 | 55514912 | | | 55514911 | - | | |
NM_003392.7(WNT5A):c.20T>C (p.Ile7Thr) | 7474 | WNT5A | Conflicting interpretations of pathogenicity | 554762368 | RCV002206857|RCV002562288|RCV003389348; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55514933 | 55514933 | | | 55514933 | - | | |
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr) | 7474 | WNT5A | Benign/Likely benign | 200914260 | RCV000363742|RCV000964936|RCV002504007; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55514939 | 55514939 | | | 3:g.55514939A>G | ClinGen:CA2459138 | CN169374 not specified; | |
NM_003392.7(WNT5A):c.6+18T>A | 7474 | WNT5A | Likely benign | 192224802 | RCV002091868|RCV002500141; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55520990 | 55520990 | | | 55520990 | - | | |
NM_003392.7(WNT5A):c.-6C>A | 7474 | WNT5A | Uncertain significance | 372156419 | RCV001752627|RCV002488580; | N | MedGen:C3661900|MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55521019 | 55521019 | | | 55521019 | - | | |
NM_003392.6(WNT5A):c.-394_-392delCCA | 7474 | WNT5A | Uncertain significance | 886058749 | RCV000359450; | N | MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700, Orphanet:3107, Orphanet:97360 | 3 | 55521404 | 55521406 | | | NC_000003.11:g.55521405_55521407del | ClinGen:CA10616479 | C0265205 180700 Robinow syndrome; | |