COL9A3 — 1728 ClinVar variants

All ClinVar germline COL9A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 655 flagged for review →

29 Pathogenic · 7 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 74 Conflicting · 91 Benign · 46 Benign/Likely benign · 689 Likely benign · 772 Uncertain significance

Full COL9A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 655

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 agree, ClinVar conflicts 38

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

COL9A3 p.Ala260Val Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Ala387Val Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Ala434Thr Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Ala541Thr Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Ala542Thr Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Arg138His Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Arg234Pro Conflicting Single submitter
COL9A3-related disorder
COL9A3 p.Arg524His Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Arg577Gln Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Arg583His Conflicting Single submitter
COL9A3 p.Arg90Gln Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Asp428Asn Conflicting Single submitter
COL9A3 p.Asp447Asn Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Asp617Glu Conflicting Single submitter
epiphyseal dysplasia, multiple, 3
COL9A3 p.Gln420Glu Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Glu640Lys Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Gly130Ser Conflicting Single submitter
connective tissue disorder
COL9A3 p.Gly379Ser Conflicting Single submitter
COL9A3 p.Gly3Arg Conflicting Single submitter
COL9A3 p.Gly415Ser Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Gly463Arg Conflicting Single submitter
COL9A3 p.Gly531Arg Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Leu165Phe Conflicting Single submitter
COL9A3 p.Pro111Leu Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Pro111Ser Conflicting Single submitter
COL9A3-related disorder
COL9A3 p.Pro123Arg Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Pro255Ser Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Pro362Ser Conflicting Single submitter
COL9A3 p.Pro431Leu Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Pro550Leu Conflicting Single submitter
COL9A3 p.Pro579Thr Conflicting Single submitter
skeletal dysplasia
COL9A3 p.Pro61Leu Conflicting Single submitter
COL9A3 p.Pro643Leu Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Ser470Gly Conflicting Single submitter
COL9A3 p.Ser570Pro Conflicting Single submitter
COL9A3 p.Thr510Met Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Thr586Pro Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Val311Met Conflicting Single submitter

Predictors lean, ClinVar uncertain 505

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 505

COL9A3 p.Ala169Gly Uncertain significance Multiple submitters
COL9A3 p.Ala169Thr Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Ala25Thr Uncertain significance Multiple submitters
COL9A3 p.Ala342Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Ala541Val Uncertain significance Multiple submitters
COL9A3 p.Ala542Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Ala549Thr Uncertain significance Multiple submitters
COL9A3 p.Ala606Ser Uncertain significance Multiple submitters
COL9A3 p.Ala606Val Uncertain significance Multiple submitters
COL9A3 p.Ala670Thr Uncertain significance Multiple submitters
COL9A3 p.Arg234Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Arg267Gln Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Arg323Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Arg323His Uncertain significance Multiple submitters
COL9A3 p.Arg323Leu Uncertain significance Multiple submitters
COL9A3 p.Arg402Gln Uncertain significance Multiple submitters
COL9A3 p.Arg423Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Arg555Gln Uncertain significance Multiple submitters
COL9A3 p.Arg583Cys Uncertain significance Multiple submitters
Bilateral sensorineural hearing impairment
COL9A3 p.Arg5Cys Uncertain significance Multiple submitters
COL9A3 p.Arg682Gln Uncertain significance Multiple submitters
COL9A3 p.Asp171Asn Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Asp245Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Asp413Glu Uncertain significance Multiple submitters
COL9A3 p.Asp46His Uncertain significance Multiple submitters
COL9A3 p.Asp49Asn Uncertain significance Multiple submitters
COL9A3 p.Asp663Asn Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Asp85Tyr Uncertain significance Multiple submitters
COL9A3 p.Gln26Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gln405Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gln420Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gln598Pro Uncertain significance Multiple submitters
COL9A3 p.Gln624His Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Glu125Gly Uncertain significance Multiple submitters
COL9A3 p.Glu200Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Glu209Gly Uncertain significance Multiple submitters
COL9A3 p.Glu273Lys Uncertain significance Multiple submitters
COL9A3 p.Glu377Asp Uncertain significance Multiple submitters
COL9A3 p.Glu377Gln Uncertain significance Multiple submitters
COL9A3 p.Gly101Glu Uncertain significance Multiple submitters
COL9A3 p.Gly113Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly115Arg Uncertain significance Multiple submitters
COL9A3 p.Gly127Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly130Val Uncertain significance Multiple submitters
COL9A3 p.Gly139Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly148Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly157Arg Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Gly163Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly184Arg Uncertain significance Multiple submitters
COL9A3 p.Gly220Ser Uncertain significance Multiple submitters
COL9A3 p.Gly232Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly241Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly256Arg Uncertain significance Multiple submitters
COL9A3 p.Gly274Arg Uncertain significance Multiple submitters
COL9A3 p.Gly292Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly295Arg Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Gly298Ala Uncertain significance Multiple submitters
COL9A3 p.Gly298Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly316Ser Uncertain significance Multiple submitters
COL9A3 p.Gly322Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly325Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly334Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly346Ser Uncertain significance Multiple submitters
COL9A3 p.Gly349Ala Uncertain significance Multiple submitters
COL9A3 p.Gly35Asp Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Gly361Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly370Glu Uncertain significance Multiple submitters
COL9A3 p.Gly397Arg Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Gly403Ala Uncertain significance Multiple submitters
COL9A3 p.Gly415Asp Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly442Cys Uncertain significance Multiple submitters
COL9A3 p.Gly448Ser Uncertain significance Multiple submitters
COL9A3 p.Gly44Ser Uncertain significance Multiple submitters
COL9A3 p.Gly457Ala Uncertain significance Multiple submitters
COL9A3 p.Gly460Cys Uncertain significance Multiple submitters
COL9A3 p.Gly469Ser Uncertain significance Multiple submitters
COL9A3 p.Gly472Arg Uncertain significance Multiple submitters
COL9A3 p.Gly484Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly487Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly496Ser Uncertain significance Multiple submitters
COL9A3 p.Gly499Ser Uncertain significance Multiple submitters
COL9A3 p.Gly502Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly530Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly53Ser Uncertain significance Multiple submitters
COL9A3 p.Gly563Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly575Asp Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly584Ser Uncertain significance Multiple submitters
COL9A3 p.Gly587Arg Uncertain significance Multiple submitters
COL9A3 p.Gly593Arg Uncertain significance Multiple submitters
COL9A3 p.Gly599Asp Uncertain significance Multiple submitters
COL9A3 p.Gly613Arg Uncertain significance Multiple submitters
COL9A3 p.Gly616Arg Uncertain significance Multiple submitters
COL9A3 p.Gly62Arg Uncertain significance Multiple submitters
COL9A3-related disorder
COL9A3 p.Gly645Arg Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Gly65Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly77Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.His383Tyr Uncertain significance Multiple submitters
COL9A3 p.Ile525Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Ile571Thr Uncertain significance Multiple submitters
COL9A3 p.Ile653Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Leu240Arg Uncertain significance Multiple submitters
COL9A3-related disorder
COL9A3 p.Lys206Glu Uncertain significance Multiple submitters
COL9A3 p.Lys42Met Uncertain significance Multiple submitters
COL9A3 p.Lys97Asn Uncertain significance Multiple submitters
COL9A3 p.Met374Ile Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro123Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro123Leu Uncertain significance Multiple submitters
COL9A3 p.Pro131Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro132Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro141Arg Uncertain significance Multiple submitters
connective tissue disorder
COL9A3 p.Pro162Arg Uncertain significance Multiple submitters
COL9A3 p.Pro179Leu Uncertain significance Multiple submitters
COL9A3 p.Pro222Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro230Arg Uncertain significance Multiple submitters
COL9A3 p.Pro239Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro254Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro261Ser Uncertain significance Multiple submitters
COL9A3 p.Pro272Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro31Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro366Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro392Ser Uncertain significance Multiple submitters
COL9A3 p.Pro414Ala Uncertain significance Multiple submitters
COL9A3 p.Pro437Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro450Ser Uncertain significance Multiple submitters
COL9A3 p.Pro482Ser Uncertain significance Multiple submitters
COL9A3 p.Pro4Leu Uncertain significance Multiple submitters
COL9A3 p.Pro507Thr Uncertain significance Multiple submitters
COL9A3 p.Pro516Ala Uncertain significance Multiple submitters
COL9A3 p.Pro561Leu Uncertain significance Multiple submitters
COL9A3 p.Pro561Ser Uncertain significance Multiple submitters
COL9A3 p.Pro567Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro567Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro568Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro647Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro73Leu Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Pro93Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro96His Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro96Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro9Leu Uncertain significance Multiple submitters
COL9A3 p.Pro9Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Ser297Arg Uncertain significance Multiple submitters
COL9A3 p.Ser297Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Ser486Asn Uncertain significance Multiple submitters
COL9A3 p.Ser552Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Ser570Phe Uncertain significance Multiple submitters
COL9A3 p.Ser665Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Ser679Ala Uncertain significance Multiple submitters
COL9A3 p.Ser683Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Thr195Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Thr510Ser Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 112

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

COL9A3 p.Ala666Val Uncertain significance Multiple submitters
COL9A3 p.Arg103Trp Benign/Likely benign Multiple submitters
connective tissue disorder
COL9A3 p.Arg231Trp Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Arg246Trp Uncertain significance Multiple submitters
COL9A3 p.Arg276Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Arg351Trp Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Arg378Cys Uncertain significance Multiple submitters
COL9A3 p.Arg378His Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Arg384Trp Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Arg429Trp Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Arg595Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Asp617His Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Glu522Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly17Arg Uncertain significance Multiple submitters
COL9A3 p.Gly17Glu Benign/Likely benign Multiple submitters
connective tissue disorder
COL9A3 p.Gly29Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly325Ser Uncertain significance Multiple submitters
COL9A3 p.Gly460Ser Uncertain significance Multiple submitters
COL9A3 p.Gly530Trp Uncertain significance Multiple submitters
hearing loss disorder
COL9A3 p.Gly551Arg Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Gly551Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly557Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly610Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly610Glu Uncertain significance Multiple submitters
COL9A3 p.Gly633Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Gly636Ser Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Phe251Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro109Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro132Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro153Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro158Ser Likely benign Multiple submitters
COL9A3 p.Pro218Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro336Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro33His Uncertain significance Multiple submitters
COL9A3 p.Pro33Ser Uncertain significance Multiple submitters
COL9A3 p.Pro37Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro37Thr Uncertain significance Multiple submitters
COL9A3 p.Pro476Arg Benign/Likely benign Multiple submitters
connective tissue disorder
COL9A3 p.Pro482Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro504Leu Uncertain significance Multiple submitters
COL9A3 p.Pro516Leu Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Pro516Ser Uncertain significance Multiple submitters
COL9A3 p.Pro580Ser Uncertain significance Multiple submitters
COL9A3 p.Pro592Leu Uncertain significance Multiple submitters
epiphyseal dysplasia, multiple, 3
COL9A3 p.Pro592Ser Uncertain significance Multiple submitters
COL9A3 p.Pro60Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL9A3 p.Pro659Arg Uncertain significance Multiple submitters
COL9A3 p.Pro659Leu Uncertain significance Multiple submitters
COL9A3 p.Pro79Leu Uncertain significance Multiple submitters
COL9A3 p.Ala25Glu Uncertain significance Single submitter
COL9A3 p.Ala520Asp Uncertain significance Single submitter
COL9A3 p.Ala666Asp Uncertain significance Single submitter
COL9A3 p.Arg138Cys Uncertain significance Single submitter
COL9A3 p.Arg471Leu Uncertain significance Single submitter
COL9A3 p.Arg524Cys Conflicting Single submitter
COL9A3 p.Arg555Trp Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Asp603His Uncertain significance Single submitter
COL9A3 p.Asp663His Uncertain significance Single submitter
COL9A3 p.Glu347Lys Uncertain significance Single submitter
COL9A3 p.Glu350Lys Uncertain significance Single submitter
COL9A3 p.Glu527Lys Uncertain significance Single submitter
COL9A3 p.Gly116Asp Uncertain significance Single submitter
COL9A3 p.Gly136Ser Uncertain significance Single submitter
COL9A3 p.Gly286Ala Uncertain significance Single submitter
COL9A3 p.Gly29Arg Uncertain significance Single submitter
COL9A3 p.Gly50Ala Uncertain significance Single submitter
COL9A3 p.Gly628Ser Uncertain significance Single submitter
COL9A3 p.Gly639Ser Uncertain significance Single submitter
COL9A3 p.Gly669Arg Uncertain significance Single submitter
COL9A3 p.Ile537Thr Uncertain significance Single submitter
COL9A3 p.Leu20Met Uncertain significance Single submitter
COL9A3 p.Lys210Asn Uncertain significance Single submitter
COL9A3 p.Lys438Glu Uncertain significance Single submitter
COL9A3 p.Lys453Glu Uncertain significance Single submitter
COL9A3 p.Phe191Leu Uncertain significance Single submitter
COL9A3 p.Phe404Leu Uncertain significance Single submitter
COL9A3 p.Pro147His Uncertain significance Single submitter
COL9A3 p.Pro152Leu Uncertain significance Single submitter
COL9A3 p.Pro152Ser Uncertain significance Single submitter
COL9A3 p.Pro152Thr Uncertain significance Single submitter
COL9A3 p.Pro155Ser Uncertain significance Single submitter
COL9A3 p.Pro159Leu Uncertain significance Single submitter
COL9A3 p.Pro166Arg Uncertain significance Single submitter
COL9A3 p.Pro182Ser Uncertain significance Single submitter
COL9A3 p.Pro183Leu Uncertain significance Single submitter
Inborn genetic diseases
COL9A3 p.Pro183Ser Uncertain significance Single submitter
COL9A3 p.Pro222Leu Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Pro303Gln Uncertain significance Single submitter
COL9A3 p.Pro303Leu Uncertain significance Single submitter
COL9A3 p.Pro339His Uncertain significance Single submitter
COL9A3 p.Pro33Ala Uncertain significance Single submitter
COL9A3 p.Pro33Thr Uncertain significance Single submitter
epiphyseal dysplasia, multiple, 3
COL9A3 p.Pro34Arg Uncertain significance Single submitter
COL9A3 p.Pro362Leu Uncertain significance Single submitter
Inborn genetic diseases
COL9A3 p.Pro369Leu Uncertain significance Single submitter
COL9A3 p.Pro36Ser Uncertain significance Single submitter
Inborn genetic diseases
COL9A3 p.Pro37Leu Conflicting Single submitter
COL9A3 p.Pro39Arg Uncertain significance Single submitter
COL9A3 p.Pro40Ser Uncertain significance Single submitter
COL9A3 p.Pro492Leu Uncertain significance Single submitter
COL9A3 p.Pro513Leu Conflicting Single submitter
COL9A3 p.Pro562Arg Uncertain significance Single submitter
COL9A3 p.Pro564Thr Uncertain significance Single submitter
COL9A3 p.Pro565Leu Uncertain significance Single submitter
Inborn genetic diseases
COL9A3 p.Pro579Arg Uncertain significance Single submitter
COL9A3 p.Pro580Ala Uncertain significance Single submitter
COL9A3 p.Pro60His Uncertain significance Single submitter
COL9A3 p.Pro614Ser Uncertain significance Single submitter
Inborn genetic diseases
COL9A3 p.Pro82Arg Uncertain significance Single submitter
COL9A3 p.Pro82Leu Conflicting Single submitter
Inborn genetic diseases
COL9A3 p.Ser363Tyr Uncertain significance Single submitter
COL9A3 p.Ser570Cys Uncertain significance Single submitter
Inborn genetic diseases

All COL9A3 variants

Pathogenic 29

c.148-1G>A Multiple submitters epiphyseal dysplasia, multiple, 3
c.148-2A>G Multiple submitters COL9A3-related disorders
p.Arg471Ter Multiple submitters Inborn genetic diseases
c.183+2T>C Single submitter epiphyseal dysplasia, multiple, 3
p.Arg252Ter Single submitter
p.Arg267Ter Single submitter
p.Arg270fs Single submitter
p.Arg402Ter Single submitter Stickler syndrome, type 6
p.Arg423Ter Single submitter
p.Glu329Ter Single submitter
p.Gly113fs Single submitter
p.Gly133fs Single submitter
p.Gly139fs Single submitter
p.Gly157Ter Single submitter
p.Gly187fs Single submitter
p.Gly193Ter Single submitter
p.Gly289Ter Single submitter
p.Gly349Ter Single submitter
p.Gly427fs Single submitter
p.Gly62fs Single submitter
p.Lys477Ter Single submitter
p.Pro143fs Single submitter
p.Pro4fs Single submitter
p.Val462fs Single submitter
p.Val515fs Single submitter
c.148-2A>T No assertion criteria epiphyseal dysplasia, multiple, 3
p.Gln393fs No assertion criteria Stickler syndrome, type 6
p.Gly217fs No assertion criteria Stickler syndrome, type 6
p.Leu119fs No assertion criteria Stickler syndrome, type 6

Pathogenic/Likely pathogenic 7

p.Arg577Ter Multiple submitters COL9A3-related disorders
p.Arg90Ter Multiple submitters COL9A3-related disorders
p.Gly35fs Multiple submitters
p.Gly563fs Multiple submitters COL9A3-related disorders
p.Ile177fs Multiple submitters connective tissue disorder
p.Pro132fs Multiple submitters COL9A3-related disorders
p.Pro36fs Multiple submitters COL9A3-related disorders

Likely pathogenic 20

c.184-2A>G Multiple submitters epiphyseal dysplasia, multiple, 3
c.1161+1G>T Single submitter COL9A3-related disorders
c.1603+2T>C Single submitter
c.183+1G>C Single submitter
c.183+4A>C Single submitter epiphyseal dysplasia, multiple, 3
c.183+5G>A Single submitter epiphyseal dysplasia, multiple, 3
c.183+5G>C Single submitter
p.Arg341Ter Single submitter COL9A3-related disorders
p.Glu200Ter Single submitter COL9A3-related disorders
p.Glu329fs Single submitter COL9A3-related disorders
p.Gly145Ter Single submitter epiphyseal dysplasia, multiple, 3
p.Gly496Arg Single submitter Stickler syndrome, type 6
p.Gly89fs Single submitter COL9A3-related disorders
p.Leu78fs Single submitter COL9A3-related disorders
p.Met1Val Single submitter Stickler syndrome, type 6
p.Pro213fs Single submitter connective tissue disorder
p.Pro37fs Single submitter COL9A3-related disorders
p.Pro562fs Single submitter
c.1107+1G>C No assertion criteria retinal lattice degeneration
p.Pro218fs No assertion criteria Autosomal recessive Stickler syndrome

Conflicting classifications of pathogenicity 74

c.1009-12C>A Single submitter
c.1162-3C>T Single submitter
c.1162-4C>A Single submitter
c.1215+8A>G Single submitter
c.1369-16A>G Single submitter
c.1548+7C>T Single submitter
c.346-18C>T Single submitter
c.369+1G>A Single submitter
c.370-3C>T Single submitter
c.519+6C>T Single submitter
c.79-2A>G Single submitter COL9A3-related disorders
c.79-9C>G Single submitter
c.900+1G>A Single submitter COL9A3-related disorders
c.955-16A>G Single submitter
p.Ala260Val Single submitter Inborn genetic diseases ⚠
p.Ala387Val Single submitter Inborn genetic diseases ⚠
p.Ala434Thr Single submitter Inborn genetic diseases ⚠
p.Ala541Thr Single submitter Inborn genetic diseases ⚠
p.Ala542Thr Single submitter Inborn genetic diseases ⚠
p.Arg138His Single submitter Inborn genetic diseases ⚠
p.Arg234Pro Single submitter COL9A3-related disorder ⚠
p.Arg234Ter Single submitter epiphyseal dysplasia, multiple, 3
p.Arg246= Single submitter
p.Arg524Cys Single submitter ⚠
p.Arg524His Single submitter Inborn genetic diseases ⚠
p.Arg555Trp Single submitter Inborn genetic diseases ⚠
p.Arg577Gln Single submitter Inborn genetic diseases ⚠
p.Arg583His Single submitter ⚠
p.Arg90Gln Single submitter Inborn genetic diseases ⚠
p.Asp428Asn Single submitter ⚠
p.Asp447Asn Single submitter Inborn genetic diseases ⚠
p.Asp617Glu Single submitter epiphyseal dysplasia, multiple, 3 ⚠
p.Gln420Glu Single submitter Inborn genetic diseases ⚠
p.Glu365= Single submitter
p.Glu640Lys Single submitter Inborn genetic diseases ⚠
p.Gly130Ser Single submitter connective tissue disorder ⚠
p.Gly24= Single submitter
p.Gly379Ser Single submitter ⚠
p.Gly3Arg Single submitter ⚠
p.Gly415Ser Single submitter Inborn genetic diseases ⚠
p.Gly421= Single submitter
p.Gly463Arg Single submitter ⚠
p.Gly531Arg Single submitter Inborn genetic diseases ⚠
p.Gly581fs Single submitter
p.Gly625= Single submitter
p.Leu165Phe Single submitter ⚠
p.Leu282= Single submitter
p.Met1Thr Single submitter COL9A3-related disorders
p.Pro111Leu Single submitter Inborn genetic diseases ⚠
p.Pro111Ser Single submitter COL9A3-related disorder ⚠
p.Pro123Arg Single submitter Inborn genetic diseases ⚠
p.Pro222= Single submitter
p.Pro222Leu Single submitter Inborn genetic diseases ⚠
p.Pro255Ser Single submitter Inborn genetic diseases ⚠
p.Pro362Ser Single submitter ⚠
p.Pro37Leu Single submitter ⚠
p.Pro414= Single submitter
p.Pro431Leu Single submitter Inborn genetic diseases ⚠
p.Pro513Leu Single submitter ⚠
p.Pro550Leu Single submitter ⚠
p.Pro579Thr Single submitter skeletal dysplasia ⚠
p.Pro61Leu Single submitter ⚠
p.Pro627= Single submitter
p.Pro643Leu Single submitter Inborn genetic diseases ⚠
p.Pro644= Single submitter
p.Pro82Leu Single submitter Inborn genetic diseases ⚠
p.Ser129= Single submitter epiphyseal dysplasia, multiple, 3
p.Ser470Gly Single submitter ⚠
p.Ser521= Single submitter
p.Ser534= Single submitter
p.Ser570Pro Single submitter ⚠
p.Thr510Met Single submitter Inborn genetic diseases ⚠
p.Thr586Pro Single submitter Inborn genetic diseases ⚠
p.Val311Met Single submitter ⚠

Benign 91

c.1008+10C>T Multiple submitters epiphyseal dysplasia, multiple, 3
c.1008+12G>C Multiple submitters
c.1008+44C>T Multiple submitters
c.1008+62A>G Multiple submitters
c.1009-67G>A Multiple submitters
c.1288-151G>A Multiple submitters
c.1288-297C>T Multiple submitters
c.1288-5T>C Multiple submitters epiphyseal dysplasia, multiple, 3
c.1324-101G>A Multiple submitters
c.1324-104G>T Multiple submitters
c.1324-188C>T Multiple submitters
c.1324-230G>A Multiple submitters
c.1368+23T>A Multiple submitters
c.1368+24G>A Multiple submitters
c.1368+81G>A Multiple submitters
c.1402-9C>T Multiple submitters connective tissue disorder
c.147+154G>A Multiple submitters
c.147+51G>T Multiple submitters
c.147+70C>T Multiple submitters
c.1548+16G>A Multiple submitters
c.1549-30A>G Multiple submitters
c.1603+101C>T Multiple submitters
c.1603+14G>C Multiple submitters
c.1603+153C>G Multiple submitters
c.1603+180G>A Multiple submitters
c.1787-142G>A Multiple submitters
c.1787-67A>G Multiple submitters
c.184-221G>A Multiple submitters
c.1865-95A>T Multiple submitters
c.346-22G>A Multiple submitters
c.424-115T>G Multiple submitters
c.477+33G>A Multiple submitters
c.478-188G>A Multiple submitters
c.520-131A>G Multiple submitters
c.576+112G>C Multiple submitters
c.630+67G>A Multiple submitters
c.631-107G>C Multiple submitters
c.631-45G>A Multiple submitters
c.685-4G>T Multiple submitters
c.738+166G>A Multiple submitters
c.738+240A>G Multiple submitters
c.738+61C>T Multiple submitters
c.793-46A>T Multiple submitters
c.846+165C>A Multiple submitters
c.900+108A>G Multiple submitters
c.900+38C>T Multiple submitters
c.901-27C>T Multiple submitters
c.901-63A>G Multiple submitters
c.901-9T>C Multiple submitters connective tissue disorder
c.*134G>A Multiple submitters
c.*163C>T Multiple submitters
c.*36G>A Multiple submitters
p.Pro182= Multiple submitters connective tissue disorder
p.Pro31= Multiple submitters epiphyseal dysplasia, multiple, 3
p.Pro43= Multiple submitters
p.Pro580= Multiple submitters epiphyseal dysplasia, multiple, 3
c.1008+122T>C Single submitter
c.1054-61dup Single submitter
c.1161+237G>T Single submitter
c.1162-167G>T Single submitter
c.1287+208del Single submitter
c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCT Single submitter
c.1323+138_1323+148del Single submitter
c.1323+226C>T Single submitter
c.1324-106_1324-105del Single submitter
c.148-15T>C Single submitter
c.1603+31_1603+43del Single submitter
c.183+264A>G Single submitter
c.1865-126G>C Single submitter
c.1865-127C>T Single submitter
c.1865-148_1865-147insCT Single submitter
c.1865-287_1865-284del Single submitter
c.310-270C>G Single submitter
c.310-314G>A Single submitter
c.310-324A>G Single submitter
c.346-17del Single submitter
c.519+203_519+205del Single submitter
c.520-115del Single submitter
c.520-158G>A Single submitter
c.520-223T>C Single submitter
c.520-310T>A Single submitter
c.576+208G>A Single submitter
c.630+145_630+176del Single submitter
c.630+175G>T Single submitter
c.79-140del Single submitter
c.846+237A>G Single submitter
c.847-147C>A Single submitter
c.900+296A>G Single submitter
c.901-133C>G Single submitter
c.*31_*32insAA Single submitter
c.*34_*35del Single submitter

Benign/Likely benign 46

c.1054-13C>G Multiple submitters
c.1215+36dup Multiple submitters
c.1401+13C>T Multiple submitters
c.1402-6C>T Multiple submitters
c.147+219G>A Multiple submitters
c.1548+4C>T Multiple submitters
c.1549-4C>A Multiple submitters connective tissue disorder
c.183+20G>A Multiple submitters
c.1864+12C>T Multiple submitters
c.255+18_255+20dup Multiple submitters
c.256-16C>A Multiple submitters
c.309+11G>A Multiple submitters epiphyseal dysplasia, multiple, 3
c.520-6C>T Multiple submitters connective tissue disorder
c.576+10G>A Multiple submitters
c.739-8C>T Multiple submitters
c.792+19G>A Multiple submitters epiphyseal dysplasia, multiple, 3
c.847-16C>T Multiple submitters
c.900+11G>A Multiple submitters
c.*9G>A Multiple submitters
p.Ala435Glu Multiple submitters connective tissue disorder
p.Ala576Thr Multiple submitters
p.Ala606Thr Multiple submitters connective tissue disorder
p.Ala670= Multiple submitters epiphyseal dysplasia, multiple, 3
p.Arg103Gln Multiple submitters connective tissue disorder
p.Arg103Trp Multiple submitters connective tissue disorder ⚠
p.Arg252Gln Multiple submitters connective tissue disorder
p.Asn483= Multiple submitters connective tissue disorder
p.Asp207= Multiple submitters
p.Asp632= Multiple submitters connective tissue disorder
p.Cys7Ser Multiple submitters
p.Gly17Glu Multiple submitters connective tissue disorder ⚠
p.Gly415= Multiple submitters connective tissue disorder
p.Ile443Val Multiple submitters
p.Leu137Pro Multiple submitters connective tissue disorder
p.Pro109Ser Multiple submitters
p.Pro156= Multiple submitters
p.Pro179= Multiple submitters
p.Pro216= Multiple submitters
p.Pro296Leu Multiple submitters connective tissue disorder
p.Pro476Arg Multiple submitters connective tissue disorder ⚠
p.Pro70Leu Multiple submitters connective tissue disorder
p.Pro79= Multiple submitters
p.Pro94Ser Multiple submitters
p.Ser297= Multiple submitters
p.Ser521Gly Multiple submitters connective tissue disorder
p.Val671Met Multiple submitters

Likely benign 689

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

c.1008+13C>T Multiple submitters
c.1008+14G>A Multiple submitters
c.1008+16G>A Multiple submitters
c.1008+16G>C Multiple submitters
c.1008+18G>A Multiple submitters
c.1009-19G>A Multiple submitters
c.1053+16C>T Multiple submitters
c.1053+17G>A Multiple submitters
c.1054-12C>T Multiple submitters
c.1054-16T>C Multiple submitters
c.1054-9C>T Multiple submitters
c.1107+12C>T Multiple submitters
c.1107+13G>A Multiple submitters
c.1107+15C>T Multiple submitters
c.1107+16G>A Multiple submitters
c.1107+17C>A Multiple submitters
c.1108-16C>T Multiple submitters
c.1161+19_1161+35dup Multiple submitters
c.1162-12T>C Multiple submitters
c.1216-10C>T Multiple submitters
c.1216-12C>T Multiple submitters
c.1288-19G>A Multiple submitters
c.1288-4C>T Multiple submitters
c.1323+16G>C Multiple submitters
c.1323+17C>G Multiple submitters
c.1324-204C>T Multiple submitters
c.1369-142G>A Multiple submitters
c.1401+10C>T Multiple submitters
c.1401+11G>A Multiple submitters
c.1401+11G>C Multiple submitters
c.1401+14G>A Multiple submitters
c.147+11G>A Multiple submitters
c.147+135C>T Multiple submitters
c.147+166G>A Multiple submitters
c.147+215C>T Multiple submitters
c.147+9G>T Multiple submitters
c.148-16G>T Multiple submitters
c.1548+12T>C Multiple submitters
c.1548+14C>G Multiple submitters
c.1548+15C>T Multiple submitters
c.1548+8G>A Multiple submitters epiphyseal dysplasia, multiple, 3
c.1548+9C>T Multiple submitters
c.1603+13C>T Multiple submitters
c.1603+19C>G Multiple submitters
c.1603+20C>T Multiple submitters
c.1603+48G>A Multiple submitters
c.1604-122C>T Multiple submitters
c.1604-15C>T Multiple submitters
c.1604-22C>T Multiple submitters
c.1786+14C>T Multiple submitters
c.1787-10C>T Multiple submitters
c.1787-13C>T Multiple submitters
c.1787-60G>A Multiple submitters
c.1787-7G>A Multiple submitters
c.1787-8C>T Multiple submitters
c.183+11C>T Multiple submitters
c.183+18G>C Multiple submitters
c.183+234C>T Multiple submitters
c.184-130G>A Multiple submitters
c.184-20T>C Multiple submitters
c.184-8C>T Multiple submitters
c.1864+18G>A Multiple submitters
c.1865-19C>T Multiple submitters
c.1865-20C>A Multiple submitters
c.1865-38G>A Multiple submitters
c.255+8C>T Multiple submitters
c.256-19G>A Multiple submitters
c.256-20C>T Multiple submitters
c.309+12C>T Multiple submitters
c.309+15C>T Multiple submitters
c.309+16G>A Multiple submitters
c.310-20C>T Multiple submitters
c.345+15T>C Multiple submitters
c.346-17C>T Multiple submitters
c.346-19C>T Multiple submitters epiphyseal dysplasia, multiple, 3
c.370-8C>T Multiple submitters
c.424-11C>T Multiple submitters
c.477+129A>G Multiple submitters
c.477+68A>G Multiple submitters
c.520-190G>A Multiple submitters
c.520-201A>G Multiple submitters
c.520-5G>A Multiple submitters
c.576+9C>G Multiple submitters
c.576+9C>T Multiple submitters
c.577-20G>A Multiple submitters lumbar disk degenerative disorder
c.630+11C>T Multiple submitters
c.630+14A>G Multiple submitters
c.630+84G>T Multiple submitters
c.630+91G>A Multiple submitters
c.631-12C>T Multiple submitters
c.631-13C>A Multiple submitters
c.631-13C>G Multiple submitters
c.631-210C>T Multiple submitters
c.631-41G>A Multiple submitters
c.685-17G>A Multiple submitters
c.685-20T>C Multiple submitters
c.685-4G>A Multiple submitters
c.738+118C>T Multiple submitters
c.738+14C>T Multiple submitters
c.738+8C>T Multiple submitters
c.739-11C>T Multiple submitters
c.739-15C>T Multiple submitters
c.739-252G>A Multiple submitters
c.739-57G>A Multiple submitters
c.78+16G>A Multiple submitters
c.78+18G>T Multiple submitters
c.78+6C>T Multiple submitters
c.78+96C>T Multiple submitters
c.79-131A>G Multiple submitters
c.79-7G>A Multiple submitters
c.792+18C>T Multiple submitters
c.792+19G>C Multiple submitters
c.793-36G>A Multiple submitters
c.846+12G>A Multiple submitters
c.847-4C>T Multiple submitters
c.900+10C>T Multiple submitters
c.901-14T>C Multiple submitters
c.954+52C>T Multiple submitters
c.955-5C>T Multiple submitters
c.955-7C>A Multiple submitters
p.Ala219= Multiple submitters
p.Ala260= Multiple submitters
p.Ala264Val Multiple submitters
p.Ala294= Multiple submitters
p.Ala360= Multiple submitters
p.Ala434= Multiple submitters
p.Ala435= Multiple submitters
p.Ala541= Multiple submitters
p.Ala542= Multiple submitters
p.Ala559= Multiple submitters
p.Ala606= Multiple submitters
p.Arg138= Multiple submitters
p.Arg378= Multiple submitters
p.Arg384= Multiple submitters
p.Arg583= Multiple submitters
p.Arg682= Multiple submitters
p.Asn333= Multiple submitters
p.Asp413= Multiple submitters
p.Asp425= Multiple submitters
p.Asp612= Multiple submitters
p.Asp635= Multiple submitters
p.Cys662= Multiple submitters
p.Cys7= Multiple submitters
p.Glu102= Multiple submitters
p.Glu377= Multiple submitters
p.Gly121= Multiple submitters
p.Gly142= Multiple submitters
p.Gly168= Multiple submitters
p.Gly418= Multiple submitters
p.Gly487= Multiple submitters
p.Gly499= Multiple submitters
p.Gly502= Multiple submitters
p.Gly517= Multiple submitters
p.Gly563= Multiple submitters
p.Gly569= Multiple submitters
p.Gly575= Multiple submitters
p.Gly599= Multiple submitters
p.Gly673= Multiple submitters
p.Gly77= Multiple submitters
p.Ile177= Multiple submitters
p.Ile533= Multiple submitters
p.Leu13= Multiple submitters
p.Leu14= Multiple submitters
p.Leu146= Multiple submitters
p.Leu149= Multiple submitters
p.Leu221= Multiple submitters
p.Leu240= Multiple submitters
p.Leu314= Multiple submitters
p.Leu390= Multiple submitters
p.Lys288= Multiple submitters
p.Pro111= Multiple submitters
p.Pro120= Multiple submitters
p.Pro147= Multiple submitters
p.Pro158Ser Multiple submitters ⚠
p.Pro254= Multiple submitters
p.Pro291= Multiple submitters connective tissue disorder
p.Pro327= Multiple submitters
p.Pro33= Multiple submitters
p.Pro34= Multiple submitters
p.Pro39= Multiple submitters
p.Pro431= Multiple submitters
p.Pro504= Multiple submitters
p.Pro513= Multiple submitters
p.Pro550= Multiple submitters
p.Pro556= Multiple submitters
p.Pro562= Multiple submitters
p.Pro564Ser Multiple submitters
p.Pro579= Multiple submitters
p.Pro594= Multiple submitters
p.Pro638= Multiple submitters
p.Pro659= Multiple submitters
p.Pro70= Multiple submitters
p.Pro9= Multiple submitters
p.Ser224= Multiple submitters
p.Ser410= Multiple submitters
p.Ser459= Multiple submitters
p.Ser486= Multiple submitters
p.Thr510= Multiple submitters
p.Thr88= Multiple submitters
p.Val491= Multiple submitters
p.Val626Met Multiple submitters
c.1008+10C>A Single submitter
c.1008+11G>A Single submitter
c.1008+15G>A Single submitter
c.1008+17T>G Single submitter
c.1009-10C>G Single submitter
c.1009-15G>C Single submitter
c.1009-20C>T Single submitter
c.1009-4del Single submitter
c.1009-9T>C Single submitter
c.1053+20T>C Single submitter
c.1053+43G>A Single submitter
c.1053+9C>T Single submitter
c.1054-15C>T Single submitter
c.1054-20C>T Single submitter
c.1054-8C>T Single submitter
c.1107+13G>T Single submitter
c.1108-12C>T Single submitter
c.1108-13C>G Single submitter
c.1108-14T>C Single submitter
c.1108-4G>A Single submitter
c.1108-5T>C Single submitter
c.1108-6C>T Single submitter
c.1108-7C>T Single submitter
c.1108-9T>C Single submitter
c.1161+15A>G Single submitter
c.1161+21dup Single submitter
c.1161+7G>T Single submitter
c.1161+9A>G Single submitter
c.1162-13C>G Single submitter
c.1162-14C>T Single submitter
c.1162-18C>T Single submitter
c.1162-19C>T Single submitter
c.1215+15G>A Single submitter
c.1215+17C>G Single submitter
c.1215+20G>A Single submitter
c.1215+22G>A Single submitter
c.1216-4C>T Single submitter
c.1216-6C>T Single submitter
c.1216-8T>A Single submitter
c.1287+10C>A Single submitter
c.1287+10C>G Single submitter
c.1287+13C>T Single submitter
c.1287+16A>G Single submitter
c.1287+17G>A Single submitter
c.1287+19A>T Single submitter
c.1287+20G>A Single submitter
c.1287+9C>T Single submitter
c.1288-10C>T Single submitter
c.1288-15del Single submitter
c.1288-17C>A Single submitter
c.1288-4C>A Single submitter
c.1288-6A>T Single submitter
c.1288-7C>T Single submitter
c.1288-8A>C Single submitter
c.1323+17dup Single submitter
c.1323+18T>C Single submitter
c.1323+227G>A Single submitter
c.1323+32T>C Single submitter
c.1323+9G>C Single submitter
c.1324-10T>C Single submitter
c.1324-15G>A Single submitter
c.1324-15G>T Single submitter
c.1324-16G>A Single submitter
c.1324-17G>A Single submitter
c.1324-50C>G Single submitter
c.1324-8G>A Single submitter
c.1324-9C>T Single submitter
c.1368+11A>G Single submitter
c.1368+12G>C Single submitter
c.1368+14T>C Single submitter
c.1368+14T>G Single submitter
c.1368+18C>T Single submitter
c.1368+20C>G Single submitter
c.1368+77G>T Single submitter
c.1369-17A>G Single submitter
c.1369-20C>T Single submitter
c.1401+17T>C Single submitter
c.1401+18G>C Single submitter
c.1401+66T>C Single submitter
c.1402-12_1402-11del Single submitter
c.1402-12G>A Single submitter
c.1402-15T>C Single submitter
c.1402-4G>A Single submitter
c.1402-68A>C Single submitter
c.147+10G>C Single submitter
c.147+12G>A Single submitter
c.147+17G>T Single submitter
c.147+20G>A Single submitter
c.147+251C>T Single submitter
c.147+7T>A Single submitter
c.148-12C>T Single submitter
c.148-14_148-13del Single submitter
c.148-14G>A Single submitter
c.148-17G>A Single submitter
c.148-19T>G Single submitter
c.148-295G>T Single submitter
c.148-7C>T Single submitter
c.1548+11T>C Single submitter
c.1548+13T>C Single submitter

Uncertain significance 772

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

c.1009-5G>A Multiple submitters
c.1161+5G>A Multiple submitters
c.1161+6T>C Multiple submitters
c.1369-3C>G Multiple submitters Stickler syndrome, type 6
c.1369-9_1369-5del Multiple submitters
c.1402-2A>G Multiple submitters epiphyseal dysplasia, multiple, 3
c.1548+5G>A Multiple submitters
c.1864+6A>G Multiple submitters
c.369+4A>G Multiple submitters
c.519+4G>A Multiple submitters
p.179PPG[2] Multiple submitters
p.33PPG[1] Multiple submitters
p.561PPG[2] Multiple submitters
p.78LPG[1] Multiple submitters epiphyseal dysplasia, multiple, 3
p.Ala169Gly Multiple submitters ⚠
p.Ala169Thr Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Ala25Thr Multiple submitters ⚠
p.Ala264= Multiple submitters
p.Ala342Val Multiple submitters Inborn genetic diseases ⚠
p.Ala541Val Multiple submitters ⚠
p.Ala542dup Multiple submitters
p.Ala542Val Multiple submitters Inborn genetic diseases ⚠
p.Ala549Thr Multiple submitters ⚠
p.Ala606Ser Multiple submitters ⚠
p.Ala606Val Multiple submitters ⚠
p.Ala666Val Multiple submitters ⚠
p.Ala670Thr Multiple submitters ⚠
p.Arg231Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg234Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg246Trp Multiple submitters ⚠
p.Arg267Gln Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Arg276Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg323Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg323His Multiple submitters ⚠
p.Arg323Leu Multiple submitters ⚠
p.Arg351Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg378Cys Multiple submitters ⚠
p.Arg378His Multiple submitters Inborn genetic diseases ⚠
p.Arg384Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg402Gln Multiple submitters ⚠
p.Arg423Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg429Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg555_Gly572del Multiple submitters
p.Arg555Gln Multiple submitters ⚠
p.Arg583Cys Multiple submitters Bilateral sensorineural hearing impairment ⚠
p.Arg595Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg5Cys Multiple submitters ⚠
p.Arg682Gln Multiple submitters ⚠
p.Arg682Ter Multiple submitters
p.Asp171Asn Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Asp245Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp413Glu Multiple submitters ⚠
p.Asp46His Multiple submitters ⚠
p.Asp49Asn Multiple submitters ⚠
p.Asp617His Multiple submitters Inborn genetic diseases ⚠
p.Asp663Asn Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Asp85Tyr Multiple submitters ⚠
p.Gln26Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln405Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln420Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln598Pro Multiple submitters ⚠
p.Gln624His Multiple submitters Inborn genetic diseases ⚠
p.Glu125Gly Multiple submitters ⚠
p.Glu200Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu209Gly Multiple submitters ⚠
p.Glu273Lys Multiple submitters ⚠
p.Glu377Asp Multiple submitters ⚠
p.Glu377Gln Multiple submitters ⚠
p.Glu522Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly101Glu Multiple submitters ⚠
p.Gly113Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly115Arg Multiple submitters ⚠
p.Gly127Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly130Val Multiple submitters ⚠
p.Gly139Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly148Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly157Arg Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Gly163Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly17Arg Multiple submitters ⚠
p.Gly184Arg Multiple submitters ⚠
p.Gly220Ser Multiple submitters ⚠
p.Gly232Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly241Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly256Arg Multiple submitters ⚠
p.Gly274Arg Multiple submitters ⚠
p.Gly292Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly295Arg Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Gly298Ala Multiple submitters ⚠
p.Gly298Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly29Val Multiple submitters Inborn genetic diseases ⚠
p.Gly316Ser Multiple submitters ⚠
p.Gly322Val Multiple submitters Inborn genetic diseases ⚠
p.Gly325Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly325Ser Multiple submitters ⚠
p.Gly334Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly346Ser Multiple submitters ⚠
p.Gly349Ala Multiple submitters ⚠
p.Gly35Asp Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Gly361Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly370Glu Multiple submitters ⚠
p.Gly397Arg Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Gly403Ala Multiple submitters ⚠
p.Gly415Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly442Cys Multiple submitters ⚠
p.Gly448Ser Multiple submitters ⚠
p.Gly44Ser Multiple submitters ⚠
p.Gly457Ala Multiple submitters ⚠
p.Gly460Cys Multiple submitters ⚠
p.Gly460Ser Multiple submitters ⚠
p.Gly469Ser Multiple submitters ⚠
p.Gly472Arg Multiple submitters ⚠
p.Gly484Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly487Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly496Ser Multiple submitters ⚠
p.Gly499Ser Multiple submitters ⚠
p.Gly502Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly530Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly530Trp Multiple submitters hearing loss disorder ⚠
p.Gly53Ser Multiple submitters ⚠
p.Gly551Arg Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Gly551Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly557Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly563Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly575Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly584Ser Multiple submitters ⚠
p.Gly587Arg Multiple submitters ⚠
p.Gly593Arg Multiple submitters ⚠
p.Gly599Asp Multiple submitters ⚠
p.Gly610Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly610Glu Multiple submitters ⚠
p.Gly613Arg Multiple submitters ⚠
p.Gly616Arg Multiple submitters ⚠
p.Gly62Arg Multiple submitters COL9A3-related disorder ⚠
p.Gly633Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly636Ser Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Gly645Arg Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Gly65Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly674del Multiple submitters
p.Gly77Glu Multiple submitters Inborn genetic diseases ⚠
p.His383Tyr Multiple submitters ⚠
p.Ile509Ser Multiple submitters Inborn genetic diseases
p.Ile525Val Multiple submitters Inborn genetic diseases ⚠
p.Ile571Thr Multiple submitters ⚠
p.Ile653Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu15_Leu16dup Multiple submitters
p.Leu240Arg Multiple submitters COL9A3-related disorder ⚠
p.Lys206Glu Multiple submitters ⚠
p.Lys42Met Multiple submitters ⚠
p.Lys477_Pro482del Multiple submitters epiphyseal dysplasia, multiple, 3
p.Lys97Asn Multiple submitters ⚠
p.Met374Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe251Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro109Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro123Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro123Leu Multiple submitters ⚠
p.Pro131Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro132Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro132Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro141= Multiple submitters
p.Pro141Arg Multiple submitters connective tissue disorder ⚠
p.Pro153Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro162Arg Multiple submitters ⚠
p.Pro179Leu Multiple submitters ⚠
p.Pro218Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro222Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro230Arg Multiple submitters ⚠
p.Pro239Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro254Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro261Ser Multiple submitters ⚠
p.Pro272Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro31Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro336Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro33His Multiple submitters ⚠
p.Pro33Ser Multiple submitters ⚠
p.Pro366Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro37Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro37Thr Multiple submitters ⚠
p.Pro392Ser Multiple submitters ⚠
p.Pro414Ala Multiple submitters ⚠
p.Pro437Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro450Ser Multiple submitters ⚠
p.Pro482Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro482Ser Multiple submitters ⚠
p.Pro4Leu Multiple submitters ⚠
p.Pro504Leu Multiple submitters ⚠
p.Pro507Thr Multiple submitters ⚠
p.Pro516Ala Multiple submitters ⚠
p.Pro516Leu Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Pro516Ser Multiple submitters ⚠
p.Pro561Leu Multiple submitters ⚠
p.Pro561Ser Multiple submitters ⚠
p.Pro567Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro567Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro568Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro580Ser Multiple submitters ⚠
p.Pro592Leu Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Pro592Ser Multiple submitters ⚠
p.Pro60Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro61= Multiple submitters
p.Pro643_Gly648del Multiple submitters
p.Pro647Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro659Arg Multiple submitters ⚠
p.Pro659fs Multiple submitters
p.Pro659Leu Multiple submitters ⚠
p.Pro73Leu Multiple submitters epiphyseal dysplasia, multiple, 3 ⚠
p.Pro79Leu Multiple submitters ⚠
p.Pro93Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro96His Multiple submitters Inborn genetic diseases ⚠
p.Pro96Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro9Leu Multiple submitters ⚠
p.Pro9Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser297Arg Multiple submitters ⚠
p.Ser297Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser486Asn Multiple submitters ⚠
p.Ser552Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser570Phe Multiple submitters ⚠
p.Ser665Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser665del Multiple submitters
p.Ser679Ala Multiple submitters ⚠
p.Ser683Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr195Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr510Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr586Ser Multiple submitters ⚠
p.Val225Met Multiple submitters Inborn genetic diseases ⚠
p.Val28Met Multiple submitters Inborn genetic diseases ⚠
p.Val368Ile Multiple submitters Stickler syndrome ⚠
p.Val426Met Multiple submitters ⚠
c.1009-3C>T Single submitter
c.1053+6T>C Single submitter
c.1054-1G>A Single submitter
c.1107+2T>G Single submitter
c.1108-3T>C Single submitter
c.1161+1G>A Single submitter
c.1162-2A>C Single submitter
c.1162-3C>G Single submitter
c.1215+5G>A Single submitter
c.1215+6T>A Single submitter epiphyseal dysplasia, multiple, 3
c.1216-1G>A Single submitter
c.1216-3C>T Single submitter
c.1287+4A>G Single submitter
c.1323+3G>A Single submitter
c.1368+1G>T Single submitter
c.1368+3G>A Single submitter
c.1369-3C>T Single submitter
c.147+1G>A Single submitter
c.147+4_147+5del Single submitter
c.148-2del Single submitter
c.148-3C>T Single submitter
c.1548+15C>A Single submitter
c.1548+1G>A Single submitter
c.1548+1G>C Single submitter
c.1548+2_1548+17del Single submitter
c.1548+3A>T Single submitter
c.1603+3A>G Single submitter
c.1603+4A>T Single submitter
c.1603+6T>A Single submitter
c.1772_1786+7dup Single submitter
c.1786+4_1786+5del Single submitter
c.1786+5G>A Single submitter
c.183+3G>A Single submitter
c.184-15_185del Single submitter
c.1864+4C>T Single submitter
c.1864+5G>A Single submitter
c.1864+5G>C Single submitter
c.309+1G>T Single submitter
c.310-1G>A Single submitter
c.310-3C>T Single submitter
c.345+1G>T Single submitter
c.345+3G>A Single submitter
c.345+5G>A Single submitter
c.346-5T>G Single submitter
c.369+2T>C Single submitter epiphyseal dysplasia, multiple, 3
c.370-1G>C Single submitter
c.423+1G>A Single submitter
c.423+5G>A Single submitter
c.424-11C>G Single submitter
c.478-12_478-8del Single submitter
c.519+3A>C Single submitter
c.519+5G>A Single submitter
c.520-2_520-1del Single submitter
c.520-3C>T Single submitter
c.576+3_576+6del Single submitter
c.625_630+3dup Single submitter
c.630+1G>T Single submitter
c.631-1G>A Single submitter
c.631-2A>G Single submitter
c.684+15G>A Single submitter
c.684+5G>C Single submitter
c.684+6G>T Single submitter
c.738+1G>T Single submitter
c.739-12T>A Single submitter
c.739-2A>C Single submitter
c.739-3C>T Single submitter
c.79-1G>A Single submitter
c.79-1G>T Single submitter
c.79-3C>T Single submitter
c.792+4C>T Single submitter
c.846+1G>A Single submitter
c.846+3_846+6del Single submitter
c.900+3G>T Single submitter