WDR35 — 873 ClinVar variants

All ClinVar germline WDR35 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 348 flagged for review →

35 Pathogenic · 12 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 52 Conflicting · 75 Benign · 17 Benign/Likely benign · 215 Likely benign · 436 Uncertain significance

Full WDR35 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 348

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

WDR35 p.Arg467Lys Likely pathogenic Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly

Predictors agree, ClinVar conflicts 19

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

WDR35 p.Arg461Gln Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Arg979Gln Conflicting Single submitter
Inborn genetic diseases
WDR35 p.Asn395Tyr Conflicting Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asn930Ser Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Asp1046His Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Gln1093His Conflicting Single submitter
connective tissue disorder
WDR35 p.Glu819Gly Conflicting Single submitter
Inborn genetic diseases
WDR35 p.Ile1156Arg Conflicting Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ile416Met Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Leu893Ser Conflicting Single submitter
Inborn genetic diseases
WDR35 p.Lys1112Arg Conflicting Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Lys725Asn Conflicting Single submitter
Inborn genetic diseases
WDR35 p.Met479Val Conflicting Single submitter
Inborn genetic diseases
WDR35 p.Pro351Ala Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Ser1117Gly Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Thr1009Arg Conflicting Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Trp311Leu Conflicting Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Tyr926Cys Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Val882Ile Conflicting Single submitter
cranioectodermal dysplasia 2

Predictors lean, ClinVar uncertain 235

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 235

WDR35 p.Ala166Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ala347Glu Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ala424Thr Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ala665Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ala876Gly Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ala964Gly Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ala994Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg148Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg353His Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Arg444His Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg459Gln Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Arg493Lys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg510His Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg582Gln Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Arg710His Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Arg722His Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Arg755Thr Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Arg816Gln Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Arg820His Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg927Gln Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Arg955His Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Asn896Asp Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Asp1046Glu Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Asp830Asn Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Cys1065Ser Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Cys197Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Cys824Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Gln1154Glu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gln279Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Glu1000Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Glu1155Ala Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Glu402Lys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Glu752Lys Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Glu946Lys Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gly1150Ser Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gly209Glu Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Gly995Val Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.His263Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.His470Asp Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.His646Arg Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Ile140Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ile205Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ile210Val Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Ile515Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ile624Ser Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ile760Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ile795Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ile839Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ile967Thr Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Leu320Ile Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Leu652Val Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Leu776Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Lys1108Glu Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Lys712Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Lys916Glu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Lys958Asn Uncertain significance Multiple submitters
WDR35-related disorder
WDR35 p.Met600Val Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Met731Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Met827Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Phe273Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Phe406Ser Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Pro842Ser Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Ser434Leu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ser634Tyr Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Thr1103Ser Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Thr363Met Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Thr409Met Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Thr566Met Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Trp123Arg Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Trp22Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Tyr255Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Val15Leu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Val220Met Uncertain significance Multiple submitters
connective tissue disorder
WDR35 p.Val248Ile Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Val322Ile Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Val809Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ala1012Pro Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Ala1016Pro Uncertain significance Single submitter
WDR35-related disorder
WDR35 p.Ala1066Ser Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ala166Thr Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Ala277Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ala548Val Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ala591Thr Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ala838Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ala894Val Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Ala935Thr Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ala977Ser Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ala977Val Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Arg1007His Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Arg564Gln Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Arg658Trp Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Arg763Gln Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Asn177Asp Uncertain significance Single submitter
WDR35 p.Asn246Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asn342Asp Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Asn807Lys Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asn888Ser Uncertain significance Single submitter
WDR35 p.Asp126Asn Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asp136Val Uncertain significance Single submitter
WDR35 p.Asp184Gly Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Asp244Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asp494Gly Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Asp49Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asp662Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asp713Gly Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Asp754Tyr Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Asp768Asn Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Asp782Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asp784Asn Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asp934Asn Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Cys1065Tyr Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Cys1129Arg Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Cys1147Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Cys1162Phe Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Cys197Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gln1026Arg Uncertain significance Single submitter
WDR35 p.Gln1093Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gln279His Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gln456Glu Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Gln516Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Gln537Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gln572Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gln619Leu Uncertain significance Single submitter
WDR35 p.Gln677Arg Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Gln677Glu Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Gln706Lys Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Gln733Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gln803Arg Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Glu1114Lys Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Glu1123Lys Uncertain significance Single submitter
WDR35 p.Glu221Lys Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Glu34Lys Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Glu402Asp Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Glu819Lys Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Glu832Asp Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Gly1133Glu Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Gly1150Asp Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gly146Ala Uncertain significance Single submitter
WDR35 p.Gly265Val Uncertain significance Single submitter
WDR35 p.Gly297Ser Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Gly303Glu Uncertain significance Single submitter
WDR35 p.Gly524Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Gly738Val Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.His1020Tyr Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.His214Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.His241Asn Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.His241Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.His70Asp Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.His971Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ile110Ser Uncertain significance Single submitter

Predictors split 93

The independent predictors disagree with each other — read with care.

WDR35 p.Ala1064Thr Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Ala437Val Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Arg444Cys Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Arg510Cys Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Arg546Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg546His Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Arg664Gln Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Arg689Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg710Cys Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Arg710Leu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Arg722Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg763Trp Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg816Trp Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Arg820Cys Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Arg927Trp Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Asn330Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Asp417Val Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Glu1138Lys Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Gly509Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.His241Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ile618Met Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ile717Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Pro247Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Pro291Leu Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Pro644Ala Uncertain significance Multiple submitters
Inborn genetic diseases
WDR35 p.Ser266Gly Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Thr66Ile Uncertain significance Multiple submitters
cranioectodermal dysplasia 2
WDR35 p.Ala707Gly Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ala794Val Uncertain significance Single submitter
WDR35 p.Arg119Cys Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Arg119His Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Arg148His Uncertain significance Single submitter
WDR35 p.Arg459Pro Uncertain significance Single submitter
WDR35 p.Arg459Trp Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Arg689His Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Arg955Cys Conflicting Single submitter
Inborn genetic diseases
WDR35 p.Asn611Lys Uncertain significance Single submitter
connective tissue disorder
WDR35 p.Asn682Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asn80Ser Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Asp251Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asp713Asn Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Asp784Gly Uncertain significance Single submitter
WDR35 p.Cys236Tyr Pathogenic Single submitter
WDR35 p.Cys404Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Glu242Gly Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Glu744Lys Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Glu843Gly Uncertain significance Single submitter
WDR35 p.Glu901Gln Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Glu924Lys Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Gly1015Arg Uncertain significance Single submitter
WDR35 p.Gly103Ala Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Gly338Cys Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Gly741Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.His912Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ile11Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ile140Val Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ile210Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ile285Phe Conflicting Single submitter
connective tissue disorder
WDR35 p.Ile407Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ile96Thr Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Leu1024Val Uncertain significance Single submitter
WDR35 p.Leu758Val Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Leu869Phe Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Leu913Val Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Lys447Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Lys804Met Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Met193Thr Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Phe1022Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Phe28Ile Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Pro247Ser Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Ser1058Cys Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ser160Cys Likely benign Single submitter
Inborn genetic diseases
WDR35 p.Ser160Tyr Uncertain significance Single submitter
WDR35 p.Ser168Arg Likely pathogenic Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ser378Cys Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Ser89Gly Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Ser904Phe Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Thr703Ala Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Tyr1057Cys Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Tyr1094Cys Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Tyr335Cys Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Tyr369Cys Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Tyr372His Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Tyr4Cys Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Tyr826His Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Tyr83Cys Uncertain significance Single submitter
WDR35 p.Tyr960Cys Uncertain significance Single submitter
short-rib thoracic dysplasia 7 with or without polydactyly
WDR35 p.Val286Met Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Val358Ile Conflicting Single submitter
cranioectodermal dysplasia 2
WDR35 p.Val574Ala Uncertain significance Single submitter
WDR35 p.Val635Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR35 p.Val891Ala Uncertain significance Single submitter
cranioectodermal dysplasia 2
WDR35 p.Ala675Val Uncertain significance No assertion criteria

All WDR35 variants

Pathogenic 35

p.Arg332Ter Multiple submitters Autosomal recessive WDR35-related disorders
p.Arg461Ter Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu1115= Multiple submitters WDR35-related disorder
c.1525-2_1527dup Single submitter cranioectodermal dysplasia 2
c.570+1G>C Single submitter
p.Arg113Ter Single submitter
p.Arg664Ter Single submitter cranioectodermal dysplasia 2
p.Asp830Val Single submitter Jeune syndrome
p.Cys236Tyr Single submitter ⚠
p.Gln516Ter Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gln537Ter Single submitter cranioectodermal dysplasia 2
p.Gln572Ter Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu1000Ter Single submitter
p.Glu404fs Single submitter cranioectodermal dysplasia 2
p.Glu901Ter Single submitter cranioectodermal dysplasia 2
p.His241fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu652fs Single submitter cranioectodermal dysplasia 2
p.Leu905fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Phe173fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Pro953fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ser59fs Single submitter cranioectodermal dysplasia 2
p.Ser986fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr380fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr566Ter Single submitter cranioectodermal dysplasia 2
p.Trp441Ter Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Trp769Ter Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Tyr518Ter Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.143-18T>A No assertion criteria short-rib thoracic dysplasia 7 with or without polydactyly
c.25-2A>G No assertion criteria cranioectodermal dysplasia 2
c.307+214_436+1120del No assertion criteria short-rib thoracic dysplasia 7 with or without polydactyly
p.Arg534Ter No assertion criteria short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu615Gly No assertion criteria cranioectodermal dysplasia 2
p.Leu520Pro No assertion criteria cranioectodermal dysplasia 2
p.Trp1142Cys No assertion criteria cranioectodermal dysplasia 2
p.Trp261Arg No assertion criteria short-rib thoracic dysplasia 7 with or without polydactyly

Pathogenic/Likely pathogenic 12

c.1255+1G>A Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Arg564Ter Multiple submitters WDR35-related disorder
p.Arg582Ter Multiple submitters WDR35-related disorder
p.Gln46Ter Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Gln490fs Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly69Asp Multiple submitters WDR35-related disorder
p.Leu195fs Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu630Ter Multiple submitters WDR35-related disorder
p.Leu993fs Multiple submitters cranioectodermal dysplasia 2
p.Met175fs Multiple submitters cranioectodermal dysplasia 2
p.Met99fs Multiple submitters WDR35-related disorder
p.Thr880fs Multiple submitters WDR35-related disorder

Likely pathogenic 31

c.2415-2A>G Multiple submitters cranioectodermal dysplasia 2
p.Asn455fs Multiple submitters cranioectodermal dysplasia 2
p.Met109fs Multiple submitters WDR35-related disorder
c.1195-2A>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1255+1G>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1400+3A>G Single submitter cranioectodermal dysplasia 2
c.1525-2A>T Single submitter cranioectodermal dysplasia 2
c.1846-30_1848del Single submitter cranioectodermal dysplasia 2
c.2063+38G>A Single submitter Ellis-van Creveld syndrome
c.2064-1G>A Single submitter cranioectodermal dysplasia 2
c.24+1G>T Single submitter Inborn genetic diseases
c.24+2T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2658+2T>C Single submitter WDR35-related disorder
c.2823+1G>A Single submitter
c.2964+87_3121+3883del Single submitter
c.308-1G>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.437-1G>A Single submitter WDR35-related disorder
c.570+2T>G Single submitter cranioectodermal dysplasia 2
p.Ala864Thr Single submitter cranioectodermal dysplasia 2
p.Arg467Lys Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gln571Ter Single submitter WDR35-related disorder
p.Gln774fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly303fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly950fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ile515fs Single submitter
p.Leu52fs Single submitter cranioectodermal dysplasia 2
p.Leu837fs Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ser168Arg Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Trp150Ter Single submitter
p.Tyr714_Lys718delinsTer Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr458fs No assertion criteria WDR35-related disorder

Conflicting classifications of pathogenicity 52

c.1194+18T>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1401-15T>G Single submitter cranioectodermal dysplasia 2
c.143-4T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.215-4C>G Single submitter cranioectodermal dysplasia 2
c.2267+9T>C Single submitter cranioectodermal dysplasia 2
c.2268-11T>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2964+10C>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2965-4G>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.3122-3T>C Single submitter cranioectodermal dysplasia 2
c.437-13T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.883-12T>G Single submitter cranioectodermal dysplasia 2
p.Ala166= Single submitter cranioectodermal dysplasia 2
p.Arg119Cys Single submitter cranioectodermal dysplasia 2 ⚠
p.Arg461Gln Single submitter cranioectodermal dysplasia 2 ⚠
p.Arg689His Single submitter cranioectodermal dysplasia 2 ⚠
p.Arg955Cys Single submitter Inborn genetic diseases ⚠
p.Arg979Gln Single submitter Inborn genetic diseases ⚠
p.Asn395Tyr Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asn401= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Asn930Ser Single submitter cranioectodermal dysplasia 2 ⚠
p.Asp1046His Single submitter cranioectodermal dysplasia 2 ⚠
p.Gln1093His Single submitter connective tissue disorder ⚠
p.Glu1084= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu242Gly Single submitter cranioectodermal dysplasia 2 ⚠
p.Glu819Gly Single submitter Inborn genetic diseases ⚠
p.Glu91= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly554= Single submitter cranioectodermal dysplasia 2
p.Ile1156Arg Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ile285Phe Single submitter connective tissue disorder ⚠
p.Ile416Met Single submitter cranioectodermal dysplasia 2 ⚠
p.Leu893Ser Single submitter Inborn genetic diseases ⚠
p.Lys1112Arg Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Lys169= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Lys725Asn Single submitter Inborn genetic diseases ⚠
p.Lys948Ter Single submitter cranioectodermal dysplasia 2
p.Met254Thr Single submitter connective tissue disorder
p.Met479Val Single submitter Inborn genetic diseases ⚠
p.Phe740= Single submitter cranioectodermal dysplasia 2
p.Pro351= Single submitter cranioectodermal dysplasia 2
p.Pro351Ala Single submitter cranioectodermal dysplasia 2 ⚠
p.Pro420= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ser1117Gly Single submitter cranioectodermal dysplasia 2 ⚠
p.Ser266= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr1009Arg Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Thr343= Single submitter cranioectodermal dysplasia 2
p.Thr405= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr703= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Trp311Leu Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Tyr1057Cys Single submitter cranioectodermal dysplasia 2 ⚠
p.Tyr926Cys Single submitter cranioectodermal dysplasia 2 ⚠
p.Val358Ile Single submitter cranioectodermal dysplasia 2 ⚠
p.Val882Ile Single submitter cranioectodermal dysplasia 2 ⚠

Benign 75

c.1255+106C>T Multiple submitters
c.1255+65C>G Multiple submitters
c.1256-54A>G Multiple submitters
c.1400+34A>C Multiple submitters
c.1401-303A>G Multiple submitters
c.1470+131T>A Multiple submitters
c.1524+168C>T Multiple submitters
c.1524+91C>T Multiple submitters
c.2064-157A>G Multiple submitters
c.25-46G>A Multiple submitters cranioectodermal dysplasia 2
c.2548-74G>A Multiple submitters
c.2658+153G>A Multiple submitters
c.2658+49T>G Multiple submitters
c.2823+57A>G Multiple submitters
c.2824-14G>T Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.3121+12A>C Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.882+69T>G Multiple submitters
c.*1050T>C Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.*1127A>G Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.*1129C>T Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.*1406A>G Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.*1489G>A Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.*231C>A Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.*2463C>T Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.*2622A>G Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.*2623T>C Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.*2957G>A Multiple submitters cranioectodermal dysplasia 2
c.*3268C>T Multiple submitters cranioectodermal dysplasia 2
c.*523G>A Multiple submitters cranioectodermal dysplasia 2
c.*98T>C Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu832= Multiple submitters cranioectodermal dysplasia 2
p.Glu972Gly Multiple submitters cranioectodermal dysplasia 2
p.Thr363= Multiple submitters cranioectodermal dysplasia 2
p.Tyr183= Multiple submitters cranioectodermal dysplasia 2
c.1008+109A>T Single submitter
c.1008+302C>G Single submitter
c.1009-295T>C Single submitter
c.1194+207T>C Single submitter
c.1194+274A>G Single submitter
c.1195-1477A>C Single submitter
c.1195-1906_1195-1903del Single submitter
c.1256-301T>A Single submitter
c.1401-574C>G Single submitter
c.1401-590C>T Single submitter
c.1401-600del Single submitter
c.1401-626T>C Single submitter
c.1401-871G>A Single submitter
c.142+161G>A Single submitter
c.1845+16G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1846-11dup Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1846-192A>G Single submitter
c.214+289C>A Single submitter
c.2267+258A>G Single submitter
c.2268-166C>T Single submitter
c.24+17dup Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2414+242C>T Single submitter
c.2415-186T>A Single submitter
c.2415-269_2415-268insTTA Single submitter
c.25-236T>C Single submitter
c.25-255A>G Single submitter
c.2548-201C>G Single submitter
c.308-17dup Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.736+194C>G Single submitter
c.736+53del Single submitter
c.737-204C>A Single submitter
c.737-259_737-257del Single submitter
c.883-144del Single submitter
c.*1479C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2408G>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2836C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*487C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*553G>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*978A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu945= Single submitter cranioectodermal dysplasia 2
p.Tyr289= Single submitter cranioectodermal dysplasia 2

Benign/Likely benign 17

c.142+10T>C Multiple submitters cranioectodermal dysplasia 2
c.1471-7A>G Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.1524+11C>A Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.2414+20C>T Multiple submitters cranioectodermal dysplasia 2
c.2964+12C>T Multiple submitters cranioectodermal dysplasia 2
p.Ala867Thr Multiple submitters cranioectodermal dysplasia 2
p.Arg1007Cys Multiple submitters connective tissue disorder
p.Arg353Pro Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Arg534Gln Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Asp754= Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Gln18Arg Multiple submitters cranioectodermal dysplasia 2
p.Ile106= Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Ile717Val Multiple submitters cranioectodermal dysplasia 2
p.Leu531Val Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Tyr255= Multiple submitters cranioectodermal dysplasia 2
p.Val257Ala Multiple submitters cranioectodermal dysplasia 2
p.Val585= Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly

Likely benign 215

c.1195-1507A>G Multiple submitters
c.1195-96T>C Multiple submitters
c.1471-66C>T Multiple submitters
c.1926+235A>G Multiple submitters
c.2268-131A>G Multiple submitters
c.2965-29C>T Multiple submitters
c.3121+3G>A Multiple submitters cranioectodermal dysplasia 2
c.737-104A>C Multiple submitters
c.*2315G>C Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Asp126= Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly27= Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Phe558= Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.1008+10A>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1008+13A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1009-18T>A Single submitter cranioectodermal dysplasia 2
c.1194+10T>C Single submitter cranioectodermal dysplasia 2
c.1194+11C>T Single submitter cranioectodermal dysplasia 2
c.1194+18T>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1195-1661C>T Single submitter cranioectodermal dysplasia 2
c.1195-1717A>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1195-1727A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1195-5C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1255+237A>G Single submitter
c.1400+15A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1400+17A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1401-11C>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1401-11C>G Single submitter cranioectodermal dysplasia 2
c.1401-14_1401-10del Single submitter
c.1401-257C>T Single submitter
c.1401-8T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.142+15G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.143-7G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1471-173G>C Single submitter
c.1471-188A>G Single submitter
c.1471-19A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1524+11C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1525-15A>C Single submitter cranioectodermal dysplasia 2
c.1525-16A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1525-3T>C Single submitter
c.1634+176G>A Single submitter
c.1634+7C>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1635-19C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1845+11G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1846-5T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2063+14G>A Single submitter
c.2063+7A>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2064-140T>G Single submitter
c.214+13A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.215-222G>A Single submitter
c.215-273C>T Single submitter
c.2267+15C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2267+16G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2268-29AATG[5] Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.24+12G>T Single submitter
c.24+9C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2415-4G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.25-10G>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.25-174C>G Single submitter
c.25-17T>C Single submitter cranioectodermal dysplasia 2
c.2547+13A>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2547+9T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2548-20G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2548-20G>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2658+13A>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2658+14C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2659-13A>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2659-19G>A Single submitter cranioectodermal dysplasia 2
c.2659-244C>T Single submitter
c.2659-312_2659-311del Single submitter
c.2824-220A>G Single submitter
c.2964+13G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2964+14T>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2964+243T>G Single submitter
c.2965-20T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2965-5C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2965-72T>C Single submitter
c.307+16A>G Single submitter cranioectodermal dysplasia 2
c.3121+10T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.3122-16G>C Single submitter cranioectodermal dysplasia 2
c.3363-10C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.3363-11C>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.3363-15C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.3363-72del Single submitter
c.3363-9G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.436+18C>T Single submitter cranioectodermal dysplasia 2
c.437-15_437-13del Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.570+20A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.570+7_570+10del Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.571-16A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.571-3del Single submitter cranioectodermal dysplasia 2
c.736+105G>A Single submitter
c.737-19T>C Single submitter cranioectodermal dysplasia 2
c.882+10T>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.882+113C>T Single submitter
c.883-14A>T Single submitter cranioectodermal dysplasia 2
c.883-160dup Single submitter
c.*1681A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*531T>A Single submitter cranioectodermal dysplasia 2
c.*573A>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*601A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*6T>G Single submitter
c.*763T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*807T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*998A>G Single submitter cranioectodermal dysplasia 2
p.Ala1012= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ala1025= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ala1064= Single submitter
p.Ala1066= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ala1069= Single submitter cranioectodermal dysplasia 2
p.Ala30= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ala501= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ala599= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ala734= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ala864= Single submitter cranioectodermal dysplasia 2
p.Ala876= Single submitter
p.Arg113= Single submitter cranioectodermal dysplasia 2
p.Arg816= Single submitter cranioectodermal dysplasia 2
p.Arg979= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Asn111= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Asn233= Single submitter
p.Asn366= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Asp153= Single submitter cranioectodermal dysplasia 2
p.Asp244= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Asp35= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Asp49= Single submitter cranioectodermal dysplasia 2
p.Asp650= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Cys1063= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Cys1065= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Cys1144= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Cys881= Single submitter cranioectodermal dysplasia 2
p.Gln279= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gln810= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gln978= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu1089= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu367= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu862= Single submitter cranioectodermal dysplasia 2
p.Glu946= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu998= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly1071= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly491= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly509= Single submitter cranioectodermal dysplasia 2
p.Gly671= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly767= Single submitter
p.Gly93= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.His1149= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.His470= Single submitter cranioectodermal dysplasia 2
p.His897= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.His971= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.His971Tyr Single submitter cranioectodermal dysplasia 2
p.Ile457= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ile667= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ile795= Single submitter cranioectodermal dysplasia 2
p.Ile96= Single submitter cranioectodermal dysplasia 2
p.Leu1044= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu227= Single submitter cranioectodermal dysplasia 2
p.Leu316= Single submitter cranioectodermal dysplasia 2
p.Leu452= Single submitter cranioectodermal dysplasia 2
p.Leu578= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu612= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu726= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu751= Single submitter cranioectodermal dysplasia 2
p.Leu775= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu776= Single submitter cranioectodermal dysplasia 2
p.Leu787= Single submitter
p.Leu841= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu869= Single submitter
p.Leu913= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu920= Single submitter cranioectodermal dysplasia 2
p.Leu959= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Lys1075= Single submitter
p.Lys281Thr Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Lys368= Single submitter cranioectodermal dysplasia 2
p.Lys371= Single submitter cranioectodermal dysplasia 2
p.Lys435= Single submitter
p.Lys718= Single submitter cranioectodermal dysplasia 2
p.Lys846= Single submitter cranioectodermal dysplasia 2
p.Lys870= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Lys948= Single submitter cranioectodermal dysplasia 2
p.Lys949= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Lys952= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Phe719= Single submitter cranioectodermal dysplasia 2
p.Pro1053= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Pro222= Single submitter cranioectodermal dysplasia 2
p.Pro291= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Pro874= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ser10= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ser160Cys Single submitter Inborn genetic diseases ⚠
p.Ser434= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ser539= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ser621Pro Single submitter cranioectodermal dysplasia 2
p.Ser730= Single submitter cranioectodermal dysplasia 2
p.Ser840= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr1132= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr163= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr380= Single submitter cranioectodermal dysplasia 2
p.Thr45= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr458= Single submitter cranioectodermal dysplasia 2
p.Thr474= Single submitter
p.Thr566= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr620= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr66= Single submitter cranioectodermal dysplasia 2
p.Thr749= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Thr749Met Single submitter Inborn genetic diseases
p.Tyr134= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Tyr219= Single submitter cranioectodermal dysplasia 2
p.Val1001= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Val1054= Single submitter cranioectodermal dysplasia 2
p.Val1130Ile Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Val133= Single submitter cranioectodermal dysplasia 2
p.Val482= Single submitter cranioectodermal dysplasia 2
p.Val882= Single submitter cranioectodermal dysplasia 2
c.737-4C>T No assertion criteria WDR35-related disorder
p.Pro247= No assertion criteria WDR35-related disorder
p.Trp361Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
p.Tyr798= No assertion criteria WDR35-related disorder

Uncertain significance 436

Showing the top 300 by review status; the full set is in the sitemap.

c.142+5A>G Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
c.1470+6T>C Multiple submitters cranioectodermal dysplasia 2
c.2964+17_2964+18delinsGG Multiple submitters cranioectodermal dysplasia 2
c.3362+6C>T Multiple submitters cranioectodermal dysplasia 2
c.*997T>C Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Ala1064Thr Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Ala166Val Multiple submitters Inborn genetic diseases ⚠
p.Ala347Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala424Thr Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ala437Val Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Ala665Val Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ala876Gly Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ala943Val Multiple submitters cranioectodermal dysplasia 2
p.Ala964Gly Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ala994Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg148Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg353His Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Arg444Cys Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Arg444His Multiple submitters Inborn genetic diseases ⚠
p.Arg459Gln Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Arg493Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg510Cys Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Arg510His Multiple submitters Inborn genetic diseases ⚠
p.Arg546Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg546His Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Arg582Gln Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Arg664Gln Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Arg689Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg710Cys Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Arg710His Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Arg710Leu Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Arg722Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg722His Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Arg755Thr Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Arg763Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg816Gln Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Arg816Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg820Cys Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Arg820His Multiple submitters Inborn genetic diseases ⚠
p.Arg927Gln Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Arg927Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg955His Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Asn330Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn896Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp1046Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp417Val Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Asp503His Multiple submitters Inborn genetic diseases
p.Asp830Asn Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Cys1065Ser Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Cys197Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys224Arg Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Cys824Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln1154Glu Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gln279Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu1000Val Multiple submitters Inborn genetic diseases ⚠
p.Glu1138Lys Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Glu1155Ala Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Glu402Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu752Lys Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Glu946Lys Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gly103Val Multiple submitters cranioectodermal dysplasia 2
p.Gly1150Ser Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gly209Glu Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Gly509Val Multiple submitters Inborn genetic diseases ⚠
p.Gly995Val Multiple submitters cranioectodermal dysplasia 2 ⚠
p.His241Arg Multiple submitters Inborn genetic diseases ⚠
p.His263Arg Multiple submitters Inborn genetic diseases ⚠
p.His470Asp Multiple submitters Inborn genetic diseases ⚠
p.His646Arg Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Ile140Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile205Val Multiple submitters Inborn genetic diseases ⚠
p.Ile210Val Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Ile515Val Multiple submitters Inborn genetic diseases ⚠
p.Ile618Met Multiple submitters Inborn genetic diseases ⚠
p.Ile624Ser Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ile717Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile760Val Multiple submitters Inborn genetic diseases ⚠
p.Ile795Val Multiple submitters Inborn genetic diseases ⚠
p.Ile839Val Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ile967Thr Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Leu198Ser Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly
p.Leu320Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu652Val Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Leu776Val Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Lys1108Glu Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Lys712Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys916Glu Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Lys941= Multiple submitters cranioectodermal dysplasia 2
p.Lys958Asn Multiple submitters WDR35-related disorder ⚠
p.Met600Val Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Met731Val Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Met827Val Multiple submitters Inborn genetic diseases ⚠
p.Phe273Val Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Phe406Ser Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Pro247Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro291Leu Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Pro410Ser Multiple submitters cranioectodermal dysplasia 2
p.Pro644Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro842Ser Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Ser266Gly Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Ser434Leu Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ser634Tyr Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Thr1103Ser Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Thr343Ile Multiple submitters Inborn genetic diseases
p.Thr363Met Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Thr409Met Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Thr566Met Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Thr66Ile Multiple submitters cranioectodermal dysplasia 2 ⚠
p.Trp123Arg Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Trp22Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr255Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr4His Multiple submitters Inborn genetic diseases
p.Val15Leu Multiple submitters short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Val220Met Multiple submitters connective tissue disorder ⚠
p.Val248Ile Multiple submitters Inborn genetic diseases ⚠
p.Val322Ile Multiple submitters Inborn genetic diseases ⚠
p.Val809Leu Multiple submitters Inborn genetic diseases ⚠
c.1255+5G>A Single submitter connective tissue disorder
c.1400+16C>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1400+6del Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.143-17GTTTT[2] Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.1846-7T>A Single submitter cranioectodermal dysplasia 2
c.2064-3A>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.215-6T>A Single submitter
c.24+4A>G Single submitter cranioectodermal dysplasia 2
c.2414+4T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2547+8T>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2548-23A>T Single submitter
c.2823+6_2823+298delinsAAA Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.2965-16C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.307+20A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.308-18T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.3122-11G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.3363-2A>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.436+4A>G Single submitter cranioectodermal dysplasia 2
c.571-11A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.571-3T>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.-15C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1005C>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1006G>A Single submitter cranioectodermal dysplasia 2
c.*1038C>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1062G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1146T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1207C>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1218C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1219G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1253C>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1270C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1370G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1413C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1461A>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1582C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1637C>T Single submitter cranioectodermal dysplasia 2
c.*1668A>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*16T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1754C>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1821A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1934A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1957C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*1960G>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2160T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2228C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2239G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2341G>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2559A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2618G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2619C>T Single submitter cranioectodermal dysplasia 2
c.*2620G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2629T>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*271A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2725G>T Single submitter cranioectodermal dysplasia 2
c.*2726A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2748G>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2797G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2887T>C Single submitter cranioectodermal dysplasia 2
c.*2962C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*297A>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2989C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*2990G>T Single submitter cranioectodermal dysplasia 2
c.*305T>C Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*3225G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*3235C>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*3269G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*3299C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*380G>A Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*563T>G Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*635C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*712A>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*747C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*795C>T Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
c.*813A>T Single submitter cranioectodermal dysplasia 2
p.Ala1012Pro Single submitter cranioectodermal dysplasia 2 ⚠
p.Ala1016Pro Single submitter WDR35-related disorder ⚠
p.Ala1066Ser Single submitter Inborn genetic diseases ⚠
p.Ala166Thr Single submitter cranioectodermal dysplasia 2 ⚠
p.Ala277Thr Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ala548Val Single submitter Inborn genetic diseases ⚠
p.Ala591Thr Single submitter Inborn genetic diseases ⚠
p.Ala707Gly Single submitter Inborn genetic diseases ⚠
p.Ala794Val Single submitter ⚠
p.Ala800= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Ala838Gly Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Ala894Val Single submitter cranioectodermal dysplasia 2 ⚠
p.Ala935Thr Single submitter Inborn genetic diseases ⚠
p.Ala977Ser Single submitter Inborn genetic diseases ⚠
p.Ala977Val Single submitter cranioectodermal dysplasia 2 ⚠
p.Arg1007His Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Arg119His Single submitter Inborn genetic diseases ⚠
p.Arg119Leu Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Arg148His Single submitter ⚠
p.Arg459Pro Single submitter ⚠
p.Arg459Trp Single submitter Inborn genetic diseases ⚠
p.Arg564Gln Single submitter Inborn genetic diseases ⚠
p.Arg658Trp Single submitter cranioectodermal dysplasia 2 ⚠
p.Arg763Gln Single submitter cranioectodermal dysplasia 2 ⚠
p.Asn177Asp Single submitter ⚠
p.Asn246Ser Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asn342Asp Single submitter Inborn genetic diseases ⚠
p.Asn611Lys Single submitter connective tissue disorder ⚠
p.Asn682Ser Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asn807Lys Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asn80Ser Single submitter Inborn genetic diseases ⚠
p.Asn888Ser Single submitter ⚠
p.Asp126Asn Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asp136Val Single submitter ⚠
p.Asp184Gly Single submitter cranioectodermal dysplasia 2 ⚠
p.Asp244Gly Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asp251Gly Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asp494Gly Single submitter Inborn genetic diseases ⚠
p.Asp49Tyr Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asp662Gly Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asp713Asn Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asp713Gly Single submitter Inborn genetic diseases ⚠
p.Asp754Tyr Single submitter Inborn genetic diseases ⚠
p.Asp768Asn Single submitter Inborn genetic diseases ⚠
p.Asp782Gly Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asp784Asn Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Asp784Gly Single submitter ⚠
p.Asp879Gly Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Asp934Asn Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Cys1065Tyr Single submitter Inborn genetic diseases ⚠
p.Cys1129= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Cys1129Arg Single submitter cranioectodermal dysplasia 2 ⚠
p.Cys1147Arg Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Cys1162Phe Single submitter Inborn genetic diseases ⚠
p.Cys1165Ter Single submitter
p.Cys197Tyr Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Cys404Ser Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gln1026Arg Single submitter ⚠
p.Gln1028His Single submitter Inborn genetic diseases
p.Gln1093Arg Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gln279His Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gln442= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gln456Glu Single submitter cranioectodermal dysplasia 2 ⚠
p.Gln516Arg Single submitter Inborn genetic diseases ⚠
p.Gln537Glu Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gln572Arg Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gln619Leu Single submitter ⚠
p.Gln677Arg Single submitter cranioectodermal dysplasia 2 ⚠
p.Gln677Glu Single submitter cranioectodermal dysplasia 2 ⚠
p.Gln706Lys Single submitter cranioectodermal dysplasia 2 ⚠
p.Gln733Arg Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gln803= Single submitter connective tissue disorder
p.Gln803Arg Single submitter cranioectodermal dysplasia 2 ⚠
p.Gln973Pro Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu1000del Single submitter cranioectodermal dysplasia 2
p.Glu1114Lys Single submitter cranioectodermal dysplasia 2 ⚠
p.Glu1123Lys Single submitter ⚠
p.Glu179Lys Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Glu221Lys Single submitter Inborn genetic diseases ⚠
p.Glu34Lys Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Glu402Asp Single submitter cranioectodermal dysplasia 2 ⚠
p.Glu744Lys Single submitter cranioectodermal dysplasia 2 ⚠
p.Glu819Lys Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Glu832Asp Single submitter Inborn genetic diseases ⚠
p.Glu843Gly Single submitter ⚠
p.Glu901Gln Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Glu924Lys Single submitter Inborn genetic diseases ⚠
p.Gly1015Arg Single submitter ⚠
p.Gly103= Single submitter
p.Gly103Ala Single submitter cranioectodermal dysplasia 2 ⚠
p.Gly1124= Single submitter
p.Gly1133Glu Single submitter cranioectodermal dysplasia 2 ⚠
p.Gly1150Asp Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gly146Ala Single submitter ⚠
p.Gly265Val Single submitter ⚠
p.Gly297Ser Single submitter Inborn genetic diseases ⚠
p.Gly303Glu Single submitter ⚠
p.Gly338Cys Single submitter Inborn genetic diseases ⚠
p.Gly464= Single submitter cranioectodermal dysplasia 2
p.Gly524Ser Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.Gly622= Single submitter short-rib thoracic dysplasia 7 with or without polydactyly
p.Gly738Val Single submitter cranioectodermal dysplasia 2 ⚠
p.Gly741Ser Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.His1020Tyr Single submitter cranioectodermal dysplasia 2 ⚠
p.His214Arg Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.His241Asn Single submitter Inborn genetic diseases ⚠
p.His241Tyr Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.His70Asp Single submitter short-rib thoracic dysplasia 7 with or without polydactyly ⚠
p.His912Arg Single submitter Inborn genetic diseases ⚠