COL10A1 — 537 ClinVar variants

All ClinVar germline COL10A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 315 flagged for review →

27 Pathogenic · 6 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 28 Conflicting · 29 Benign · 15 Benign/Likely benign · 74 Likely benign · 322 Uncertain significance

Full COL10A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 315

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 3

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

COL10A1 p.Gly18Arg Pathogenic Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Gly18Glu Pathogenic Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Gly618Val Pathogenic Single submitter

Predictors agree, ClinVar conflicts 17

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

COL10A1 p.Asp643Asn Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Glu438Lys Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Glu58Lys Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Gly218Glu Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Gly490Arg Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Ile246Thr Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Ile263Val Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Ile351Asn Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Ile53Arg Conflicting Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Ile569Thr Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Leu15Val Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Lys527Asn Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Met549Ile Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Met680Val Conflicting Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Ser384Leu Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Thr280Ile Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Thr450Asn Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 136

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

COL10A1 p.Ala22Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Ala328Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Ala427Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Ala439Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Arg24Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Arg71Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Asn342Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly139Asp Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly142Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly151Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly241Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly285Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly305Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly320Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly326Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly368Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly395Asp Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly401Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly428Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly443Asp Uncertain significance Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Gly587Val Uncertain significance Multiple submitters
COL10A1 p.Ile289Val Uncertain significance Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Ile53Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Ile593Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Met549Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Met680Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Phe7Leu Uncertain significance Multiple submitters
COL10A1 p.Pro339Leu Uncertain significance Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Pro412Thr Uncertain significance Multiple submitters
COL10A1 p.Pro417Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Thr164Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Ala178Thr Uncertain significance Single submitter
COL10A1 p.Ala321Val Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Ala328Ser Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Ala375Ser Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Ala54Pro Uncertain significance Single submitter
COL10A1 p.Ala640Pro Uncertain significance Single submitter
COL10A1 p.Ala657Asp Uncertain significance Single submitter
COL10A1 p.Ala68Thr Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Arg138Pro Uncertain significance Single submitter
COL10A1 p.Arg222Ile Uncertain significance Single submitter
COL10A1 p.Asn486Ser Uncertain significance Single submitter
COL10A1 p.Asp643Ala Uncertain significance Single submitter
COL10A1 p.Asp643His Uncertain significance Single submitter
COL10A1 p.Gln208Arg Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gln325Lys Uncertain significance Single submitter
COL10A1 p.Gln544Arg Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Glu23Ala Uncertain significance Single submitter
COL10A1 p.Glu261Gln Uncertain significance Single submitter
COL10A1 p.Glu261Lys Uncertain significance Single submitter
COL10A1 p.Glu503Lys Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Glu58Val Uncertain significance Single submitter
COL10A1 p.Glu93Lys Uncertain significance Single submitter
COL10A1 p.Gly142Glu Uncertain significance Single submitter
COL10A1 p.Gly165Glu Uncertain significance Single submitter
COL10A1 p.Gly180Glu Uncertain significance Single submitter
COL10A1 p.Gly183Arg Uncertain significance Single submitter
COL10A1 p.Gly189Arg Uncertain significance Single submitter
COL10A1 p.Gly203Asp Uncertain significance Single submitter
COL10A1 p.Gly212Glu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly229Arg Uncertain significance Single submitter
COL10A1 p.Gly256Glu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly259Glu Uncertain significance Single submitter
COL10A1 p.Gly270Arg Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly323Glu Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Gly335Asp Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly338Arg Uncertain significance Single submitter
COL10A1 p.Gly341Arg Uncertain significance Single submitter
COL10A1 p.Gly344Glu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly350Asp Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Gly362Cys Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly365Arg Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Gly377Asp Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly377Val Uncertain significance Single submitter
COL10A1 p.Gly389Trp Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly392Arg Uncertain significance Single submitter
COL10A1 p.Gly395Arg Uncertain significance Single submitter
COL10A1 p.Gly404Arg Uncertain significance Single submitter
COL10A1 p.Gly416Arg Uncertain significance Single submitter
COL10A1 p.Gly428Glu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly434Arg Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Gly440Asp Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly458Arg Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly458Asp Uncertain significance Single submitter
COL10A1 p.Gly470Arg Uncertain significance Single submitter
COL10A1 p.Gly473Arg Uncertain significance Single submitter
COL10A1 p.Gly52Asp Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly66Asp Uncertain significance Single submitter
COL10A1 p.Gly674Glu Uncertain significance Single submitter
COL10A1 p.Gly75Asp Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly78Glu Uncertain significance Single submitter
COL10A1 p.Gly81Glu Uncertain significance Single submitter
COL10A1 p.His500Tyr Uncertain significance Single submitter
COL10A1 p.His602Pro Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.His609Gln Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Ile454Thr Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Ile454Val Uncertain significance Single submitter
COL10A1 p.Ile480Leu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Leu315Phe Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Leu614Arg Uncertain significance Single submitter
COL10A1 p.Leu614Pro Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Leu644Phe Uncertain significance Single submitter
COL10A1 p.Leu676Pro Uncertain significance Single submitter
COL10A1 p.Lys300Glu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Lys39Glu Uncertain significance Single submitter
COL10A1 p.Lys630Glu Uncertain significance Single submitter
COL10A1 p.Met184Lys Uncertain significance Single submitter
COL10A1 p.Met27Arg Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Met521Leu Uncertain significance Single submitter
COL10A1 p.Met622Thr Uncertain significance Single submitter
COL10A1 p.Met680Lys Uncertain significance Single submitter
COL10A1 p.Phe589Ser Uncertain significance Single submitter
COL10A1 p.Phe672Leu Uncertain significance Single submitter
COL10A1 p.Pro249Arg Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro249Ser Uncertain significance Single submitter
COL10A1 p.Pro339Ala Uncertain significance Single submitter
COL10A1 p.Pro522Thr Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro538Leu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Ser50Asn Uncertain significance Single submitter
COL10A1 p.Ser541Arg Uncertain significance Single submitter
COL10A1 p.Ser600Pro Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Ser664Pro Uncertain significance Single submitter
COL10A1 p.Ser670Tyr Uncertain significance Single submitter
COL10A1 p.Thr164Ile Uncertain significance Single submitter
COL10A1 p.Thr29Ile Uncertain significance Single submitter
COL10A1 p.Thr40Ile Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Thr555Pro Uncertain significance Single submitter
COL10A1 p.Thr619Asn Uncertain significance Single submitter
COL10A1 p.Thr61Ile Uncertain significance Single submitter
COL10A1 p.Thr624Ser Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Tyr582Cys Uncertain significance Single submitter
COL10A1 p.Tyr601Asn Uncertain significance Single submitter
COL10A1 p.Val181Ala Uncertain significance Single submitter
COL10A1 p.Val19Met Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Val668Ala Uncertain significance Single submitter
COL10A1 p.Val677Glu Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia

Predictors split 159

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 159

COL10A1 p.Ala429Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Ala478Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Ala678Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Arg170Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Arg198His Benign/Likely benign Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Arg258Gln Benign/Likely benign Multiple submitters
Inborn genetic diseases
COL10A1 p.Asn617His Uncertain significance Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Asp128Asn Benign/Likely benign Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Glu666Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly101Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly109Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly180Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly415Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly57Glu Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Gly86Arg Likely benign Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Ile263Thr Likely benign Multiple submitters
COL10A1 p.Leu303Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Leu676Val Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Leu8Trp Benign/Likely benign Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Phe462Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro144Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro173Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro207Thr Uncertain significance Multiple submitters
COL10A1 p.Pro228Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro301Arg Uncertain significance Multiple submitters
COL10A1 p.Pro339Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro352Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro358Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro394Arg Benign Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Pro417Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro418Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro423Ser Uncertain significance Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Pro474Ser Uncertain significance Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Pro492Ala Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro79Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Pro97Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COL10A1 p.Thr280Arg Uncertain significance Multiple submitters
COL10A1-related disorder
COL10A1 p.Tyr597His Pathogenic/Likely pathogenic Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Tyr625Cys Uncertain significance Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Val154Met Uncertain significance Multiple submitters
Schmid metaphyseal chondrodysplasia
COL10A1 p.Ala271Gly Uncertain significance Single submitter
COL10A1 p.Ala328Gly Uncertain significance Single submitter
COL10A1-related disorder
COL10A1 p.Ala478Thr Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Ala481Glu Uncertain significance Single submitter
COL10A1 p.Arg138Trp Uncertain significance Single submitter
COL10A1 p.Arg198Cys Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Arg202Trp Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Arg56Gly Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Asn656Lys Uncertain significance Single submitter
COL10A1 p.Asp385Glu Uncertain significance Single submitter
COL10A1 p.Asp626Asn Uncertain significance Single submitter
COL10A1 p.Gln252His Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gln325His Uncertain significance Single submitter
COL10A1 p.Gln579Lys Uncertain significance Single submitter
COL10A1 p.Glu119Asp Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Glu119Lys Uncertain significance Single submitter
COL10A1 p.Glu224Gly Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Glu224Lys Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Glu224Val Uncertain significance Single submitter
COL10A1 p.Gly133Ala Uncertain significance Single submitter
COL10A1 p.Gly192Glu Uncertain significance Single submitter
COL10A1 p.Gly215Ser Uncertain significance Single submitter
COL10A1 p.Gly218Val Likely benign Single submitter
COL10A1 p.Gly253Ser Uncertain significance Single submitter
COL10A1 p.Gly288Ala Uncertain significance Single submitter
COL10A1 p.Gly320Ser Uncertain significance Single submitter
COL10A1 p.Gly416Val Uncertain significance Single submitter
COL10A1 p.Gly419Cys Uncertain significance Single submitter
COL10A1 p.Gly419Ser Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Gly484Ala Uncertain significance Single submitter
COL10A1 p.Gly484Asp Uncertain significance Single submitter
COL10A1 p.Gly595Ala Uncertain significance Single submitter
COL10A1 p.Gly618Cys Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Gly86Ala Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.His581Asn Uncertain significance Single submitter
COL10A1 p.His581Tyr Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Ile569Val Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Ile641Asn Uncertain significance Single submitter
COL10A1 p.Ile642Ser Uncertain significance Single submitter
COL10A1 p.Leu575Phe Uncertain significance Single submitter
COL10A1 p.Leu96Phe Uncertain significance Single submitter
COL10A1 p.Lys188Glu Uncertain significance Single submitter
COL10A1 p.Lys221Asn Uncertain significance Single submitter
COL10A1 p.Lys322Glu Uncertain significance Single submitter
COL10A1 p.Lys387Ile Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Lys616Met Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Met343Lys Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Met432Arg Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro100Leu Uncertain significance Single submitter
COL10A1 p.Pro102Leu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro108Arg Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Pro141Arg Uncertain significance Single submitter
COL10A1 p.Pro141Thr Uncertain significance Single submitter
COL10A1 p.Pro144Ala Uncertain significance Single submitter
COL10A1 p.Pro149Leu Uncertain significance Single submitter
COL10A1 p.Pro167Ser Uncertain significance Single submitter
COL10A1 p.Pro169His Uncertain significance Single submitter
COL10A1 p.Pro182Leu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro196Ser Uncertain significance Single submitter
COL10A1 p.Pro199Ser Uncertain significance Single submitter
COL10A1 p.Pro207Ser Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro240Leu Uncertain significance Single submitter
COL10A1 p.Pro266Arg Uncertain significance Single submitter
COL10A1-related disorder
COL10A1 p.Pro278Leu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro331His Uncertain significance Single submitter
COL10A1 p.Pro348Leu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro382Ser Conflicting Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Pro399Ser Uncertain significance Single submitter
COL10A1 p.Pro406Arg Conflicting Single submitter
Inborn genetic diseases
COL10A1 p.Pro421Ser Conflicting Single submitter
Nager acrofacial dysostosis
COL10A1 p.Pro423Leu Uncertain significance Single submitter
COL10A1 p.Pro423Thr Uncertain significance Single submitter
COL10A1 p.Pro457Leu Uncertain significance Single submitter
COL10A1 p.Pro463Ser Uncertain significance Single submitter
COL10A1 p.Pro477Arg Uncertain significance Single submitter
COL10A1 p.Pro491Ala Uncertain significance Single submitter
COL10A1 p.Pro491Arg Uncertain significance Single submitter
COL10A1 p.Pro491Leu Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Pro492Ser Uncertain significance Single submitter
COL10A1 p.Pro494Ser Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro509Arg Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro513Thr Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro568Leu Conflicting Single submitter
COL10A1 p.Pro620Leu Uncertain significance Single submitter
COL10A1-related disorder
COL10A1 p.Pro62Leu Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro65Ser Uncertain significance Single submitter
COL10A1 p.Pro679Thr Uncertain significance Single submitter
COL10A1 p.Pro67Arg Uncertain significance Single submitter
COL10A1 p.Pro80Ala Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Pro97Ser Uncertain significance Single submitter
COL10A1 p.Pro99Arg Uncertain significance Single submitter
COL10A1 p.Ser354Gly Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Ser471Gly Uncertain significance Single submitter
COL10A1 p.Ser501Phe Uncertain significance Single submitter
COL10A1 p.Ser501Tyr Uncertain significance Single submitter
COL10A1 p.Ser552Thr Uncertain significance Single submitter
COL10A1 p.Ser639Thr Uncertain significance Single submitter
COL10A1 p.Ser659Leu Uncertain significance Single submitter
COL10A1 p.Thr586Pro Likely pathogenic Single submitter
COL10A1 p.Thr590Ile Uncertain significance Single submitter
COL10A1 p.Thr590Pro Likely pathogenic Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Thr645Pro Uncertain significance Single submitter
COL10A1 p.Trp651Gly Uncertain significance Single submitter
COL10A1 p.Trp651Leu Uncertain significance Single submitter
Schmid metaphyseal chondrodysplasia
COL10A1 p.Tyr193Cys Uncertain significance Single submitter
Inborn genetic diseases
COL10A1 p.Tyr562His Uncertain significance Single submitter
COL10A1 p.Tyr597Phe Uncertain significance Single submitter
COL10A1 p.Tyr615Cys Uncertain significance Single submitter
COL10A1 p.Tyr623Asn Uncertain significance Single submitter
COL10A1 p.Val16Asp Uncertain significance Single submitter

All COL10A1 variants

Pathogenic 27

p.Tyr663Ter Multiple submitters Schmid metaphyseal chondrodysplasia
p.Cys591Phe Single submitter Schmid metaphyseal chondrodysplasia
p.Gln649Ter Single submitter Schmid metaphyseal chondrodysplasia
p.Gly18Arg Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Gly18Glu Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Gly595Glu Single submitter Schmid metaphyseal chondrodysplasia
p.Gly618fs Single submitter Schmid metaphyseal chondrodysplasia
p.Gly618Val Single submitter ⚠
p.Leu575fs Single submitter
p.Leu633fs Single submitter
p.Ser639fs Single submitter
p.Trp611Ter Single submitter Schmid metaphyseal chondrodysplasia
p.Trp651Arg Single submitter Schmid metaphyseal chondrodysplasia
p.Trp651fs Single submitter Schmid metaphyseal chondrodysplasia
p.Tyr598Asp Single submitter Schmid metaphyseal chondrodysplasia
p.Tyr615Ter Single submitter
p.Tyr623fs Single submitter Schmid metaphyseal chondrodysplasia
p.Tyr623Ter Single submitter
p.Tyr632Ter Single submitter Schmid metaphyseal chondrodysplasia
p.Tyr632Ter Single submitter
p.Asp634fs No assertion criteria Schmid metaphyseal chondrodysplasia
p.Pro433fs No assertion criteria Schmid metaphyseal chondrodysplasia
p.Pro620fs No assertion criteria Schmid metaphyseal chondrodysplasia
p.Pro620fs No assertion criteria Schmid metaphyseal chondrodysplasia
p.Tyr597Cys No assertion criteria Schmid metaphyseal chondrodysplasia
p.Tyr628Ter No assertion criteria Schmid metaphyseal chondrodysplasia
p.Val621fs No assertion criteria Schmid metaphyseal chondrodysplasia

Pathogenic/Likely pathogenic 6

p.Arg71Ter Multiple submitters Schmid metaphyseal chondrodysplasia
p.Gln653Ter Multiple submitters Schmid metaphyseal chondrodysplasia
p.Ser664_Ser665insTer Multiple submitters Schmid metaphyseal chondrodysplasia
p.Ser671Pro Multiple submitters Schmid metaphyseal chondrodysplasia
p.Thr608fs Multiple submitters
p.Tyr597His Multiple submitters Schmid metaphyseal chondrodysplasia ⚠

Likely pathogenic 36

p.Ile593fs Multiple submitters Schmid metaphyseal chondrodysplasia
p.Asp648His Single submitter
p.Cys591Arg Single submitter Schmid metaphyseal chondrodysplasia
p.Cys591Tyr Single submitter Schmid metaphyseal chondrodysplasia
p.Gln649fs Single submitter
p.Gln653fs Single submitter Schmid metaphyseal chondrodysplasia
p.Glu666fs Single submitter
p.Glu666Ter Single submitter
p.Gly139Cys Single submitter Schmid metaphyseal chondrodysplasia
p.Gly545_Val546insTer Single submitter
p.Gly587fs Single submitter
p.Gly595Arg Single submitter
p.Gly613fs Single submitter
p.Gly631fs Single submitter
p.Leu652Arg Single submitter Schmid metaphyseal chondrodysplasia
p.Leu652Pro Single submitter
p.Lys616Ter Single submitter Schmid metaphyseal chondrodysplasia
p.Phe554Leu Single submitter COL10A1-related disorder
p.Phe589fs Single submitter Schmid metaphyseal chondrodysplasia
p.Phe599Ser Single submitter
p.Ser637fs Single submitter Schmid metaphyseal chondrodysplasia
p.Ser659Ter Single submitter
p.Ser664fs Single submitter
p.Ser673Pro Single submitter
p.Thr586Pro Single submitter ⚠
p.Thr590Pro Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Trp651Ter Single submitter Schmid metaphyseal chondrodysplasia
p.Tyr597fs Single submitter Schmid metaphyseal chondrodysplasia
p.Tyr625fs Single submitter
p.Tyr625Ter Single submitter
p.Val612fs Single submitter
p.Val650_Trp651del Single submitter Schmid metaphyseal chondrodysplasia
p.Cys591Gly No assertion criteria Schmid metaphyseal chondrodysplasia ⚠
p.Ile588fs No assertion criteria
p.Leu8fs No assertion criteria COL10A1-related disorder
p.Tyr615Asp No assertion criteria Schmid metaphyseal chondrodysplasia

Conflicting classifications of pathogenicity 28

p.Arg198Cys Single submitter Inborn genetic diseases ⚠
p.Arg258Ter Single submitter Schmid metaphyseal chondrodysplasia
p.Asp643Asn Single submitter Inborn genetic diseases ⚠
p.Glu119Asp Single submitter Inborn genetic diseases ⚠
p.Glu438Lys Single submitter Inborn genetic diseases ⚠
p.Glu58Lys Single submitter Inborn genetic diseases ⚠
p.Gly218Glu Single submitter Inborn genetic diseases ⚠
p.Gly434fs Single submitter Schmid metaphyseal chondrodysplasia
p.Gly464= Single submitter
p.Gly490Arg Single submitter Inborn genetic diseases ⚠
p.Ile246Thr Single submitter Inborn genetic diseases ⚠
p.Ile263Val Single submitter Inborn genetic diseases ⚠
p.Ile351Asn Single submitter Inborn genetic diseases ⚠
p.Ile53Arg Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Ile569Thr Single submitter Inborn genetic diseases ⚠
p.Leu15Val Single submitter Inborn genetic diseases ⚠
p.Lys527Asn Single submitter Inborn genetic diseases ⚠
p.Met549Ile Single submitter Inborn genetic diseases ⚠
p.Met680Val Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Pro240= Single submitter
p.Pro382Ser Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Pro406Arg Single submitter Inborn genetic diseases ⚠
p.Pro421Ser Single submitter Nager acrofacial dysostosis ⚠
p.Pro568Leu Single submitter ⚠
p.Ser384Leu Single submitter Inborn genetic diseases ⚠
p.Thr211= Single submitter Schmid metaphyseal chondrodysplasia
p.Thr280Ile Single submitter Inborn genetic diseases ⚠
p.Thr450Asn Single submitter Inborn genetic diseases ⚠

Benign 29

c.154+13G>C Multiple submitters Schmid metaphyseal chondrodysplasia
c.*6_*7insCCC Multiple submitters Schmid metaphyseal chondrodysplasia
p.Gln91= Multiple submitters Schmid metaphyseal chondrodysplasia
p.Gly209Ser Multiple submitters Schmid metaphyseal chondrodysplasia
p.Gly308= Multiple submitters Schmid metaphyseal chondrodysplasia
p.Gly383Arg Multiple submitters Schmid metaphyseal chondrodysplasia
p.Pro394Arg Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Val603= Multiple submitters Schmid metaphyseal chondrodysplasia
c.154+104C>T Single submitter
c.154+6T>C Single submitter
c.-15-56del Single submitter
c.*1025C>T Single submitter Schmid metaphyseal chondrodysplasia
c.*1026G>A Single submitter Schmid metaphyseal chondrodysplasia
c.*1042A>G Single submitter Schmid metaphyseal chondrodysplasia
c.*1106G>A Single submitter Schmid metaphyseal chondrodysplasia
c.*13del Single submitter
c.*151C>A Single submitter Schmid metaphyseal chondrodysplasia
c.*157A>G Single submitter Schmid metaphyseal chondrodysplasia
c.*196T>C Single submitter Schmid metaphyseal chondrodysplasia
c.*315A>T Single submitter Schmid metaphyseal chondrodysplasia
c.*317T>A Single submitter Schmid metaphyseal chondrodysplasia
c.*416G>A Single submitter Schmid metaphyseal chondrodysplasia
c.*653T>C Single submitter Schmid metaphyseal chondrodysplasia
c.*790T>G Single submitter Schmid metaphyseal chondrodysplasia
p.Gly455Val Single submitter
p.Met1Thr Single submitter
p.Pro366= Single submitter
p.Ser50Gly Single submitter
p.Thr537Asn Single submitter

Benign/Likely benign 15

c.*246T>C Multiple submitters Schmid metaphyseal chondrodysplasia
p.Arg198His Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Arg258Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn617= Multiple submitters Schmid metaphyseal chondrodysplasia
p.Asp128Asn Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Gly109= Multiple submitters
p.Gly545Arg Multiple submitters Schmid metaphyseal chondrodysplasia
p.His602= Multiple submitters Schmid metaphyseal chondrodysplasia
p.Leu8Trp Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Met27Thr Multiple submitters Schmid metaphyseal chondrodysplasia
p.Met680Ile Multiple submitters Schmid metaphyseal chondrodysplasia
p.Ser50Arg Multiple submitters Schmid metaphyseal chondrodysplasia
p.Thr450= Multiple submitters Schmid metaphyseal chondrodysplasia
p.Thr489= Multiple submitters
p.Tyr625= Multiple submitters Schmid metaphyseal chondrodysplasia

Likely benign 74

c.155-214T>C Multiple submitters
c.155-6T>C Multiple submitters
c.-15-207T>G Multiple submitters
p.Gly86Arg Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.His581= Multiple submitters
p.Ile152= Multiple submitters Schmid metaphyseal chondrodysplasia
p.Ile263Thr Multiple submitters ⚠
p.Pro507= Multiple submitters
p.Thr537= Multiple submitters Schmid metaphyseal chondrodysplasia
c.154+11T>C Single submitter
c.154+15A>G Single submitter
c.155-11G>A Single submitter
c.*291C>T Single submitter Schmid metaphyseal chondrodysplasia
p.Ala269= Single submitter
p.Ala271= Single submitter
p.Arg120= Single submitter
p.Arg138Gln Single submitter
p.Arg237= Single submitter
p.Arg442= Single submitter
p.Gln252= Single submitter
p.Gln580= Single submitter
p.Glu58= Single submitter
p.Glu658= Single submitter
p.Gly106= Single submitter
p.Gly112= Single submitter
p.Gly124= Single submitter
p.Gly127= Single submitter Schmid metaphyseal chondrodysplasia
p.Gly174Arg Single submitter
p.Gly218Val Single submitter ⚠
p.Gly253= Single submitter
p.Gly314= Single submitter
p.Gly317= Single submitter
p.Gly350= Single submitter
p.Gly356Asp Single submitter
p.Gly389= Single submitter
p.Gly446= Single submitter
p.Gly514= Single submitter
p.Gly514fs Single submitter
p.Gly545= Single submitter
p.Gly57= Single submitter
p.Gly587Arg Single submitter Schmid metaphyseal chondrodysplasia
p.Gly613= Single submitter
p.Gly661= Single submitter
p.Gly72= Single submitter
p.His355= Single submitter
p.His669= Single submitter
p.Ile642= Single submitter
p.Leu35= Single submitter
p.Leu396= Single submitter
p.Leu420= Single submitter
p.Leu485= Single submitter
p.Leu8= Single submitter
p.Leu96= Single submitter
p.Phe672Val Single submitter
p.Pro149= Single submitter
p.Pro182= Single submitter
p.Pro205= Single submitter
p.Pro295= Single submitter
p.Pro296= Single submitter
p.Pro352= Single submitter
p.Pro358= Single submitter
p.Pro418= Single submitter
p.Pro45= Single submitter
p.Pro469= Single submitter
p.Pro472= Single submitter
p.Pro67= Single submitter
p.Ser673= Single submitter
p.Thr629= Single submitter
p.Tyr46= Single submitter
p.Tyr576= Single submitter
p.Tyr85= Single submitter
p.Val129= Single submitter
p.Val154= Single submitter
p.Val219Ala Single submitter ⚠

Uncertain significance 322

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

p.Ala22Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala328Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala427Val Multiple submitters Inborn genetic diseases ⚠
p.Ala429Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala439Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala478Val Multiple submitters Inborn genetic diseases ⚠
p.Ala678Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg170Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg222fs Multiple submitters
p.Arg24Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg24Ter Multiple submitters Schmid metaphyseal chondrodysplasia
p.Arg71Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn342Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn617His Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Glu666Gly Multiple submitters Inborn genetic diseases ⚠
p.Gly101Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly109Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly139Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly142Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly151Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly180Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly241Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly285Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly305Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly320Val Multiple submitters Inborn genetic diseases ⚠
p.Gly326Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly368Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly395Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly401Val Multiple submitters Inborn genetic diseases ⚠
p.Gly415Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly428Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly443Asp Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Gly57Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly587Val Multiple submitters ⚠
p.Ile289Val Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Ile53Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile593Val Multiple submitters Inborn genetic diseases ⚠
p.Leu303Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu676Val Multiple submitters Inborn genetic diseases ⚠
p.Met549Val Multiple submitters Inborn genetic diseases ⚠
p.Met680Thr Multiple submitters Inborn genetic diseases ⚠
p.Phe462Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe7Leu Multiple submitters ⚠
p.Pro144Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro173Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro207Thr Multiple submitters ⚠
p.Pro228Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro301Arg Multiple submitters ⚠
p.Pro339Leu Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Pro339Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro352Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro358Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro412Thr Multiple submitters ⚠
p.Pro417Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro417Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro418Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro423Ser Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Pro474Ser Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Pro492Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro79Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro97Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser103Ter Multiple submitters
p.Thr164Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr280Arg Multiple submitters COL10A1-related disorder ⚠
p.Tyr625Cys Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
p.Val154Met Multiple submitters Schmid metaphyseal chondrodysplasia ⚠
c.155-1G>A Single submitter
c.-16+7G>A Single submitter Schmid metaphyseal chondrodysplasia
c.*1038C>T Single submitter Schmid metaphyseal chondrodysplasia
c.*1085G>A Single submitter Schmid metaphyseal chondrodysplasia
c.*1145A>G Single submitter Schmid metaphyseal chondrodysplasia
c.*137C>T Single submitter Schmid metaphyseal chondrodysplasia
c.*185T>G Single submitter Schmid metaphyseal chondrodysplasia
c.*292A>G Single submitter Schmid metaphyseal chondrodysplasia
c.*318A>T Single submitter Schmid metaphyseal chondrodysplasia
c.*324A>G Single submitter Schmid metaphyseal chondrodysplasia
c.*428G>A Single submitter Schmid metaphyseal chondrodysplasia
c.*455T>C Single submitter Schmid metaphyseal chondrodysplasia
c.*511T>C Single submitter Schmid metaphyseal chondrodysplasia
c.*52C>T Single submitter Schmid metaphyseal chondrodysplasia
c.*572T>C Single submitter Schmid metaphyseal chondrodysplasia
c.*674A>G Single submitter Schmid metaphyseal chondrodysplasia
c.*900G>A Single submitter Schmid metaphyseal chondrodysplasia
p.Ala178Thr Single submitter ⚠
p.Ala271Gly Single submitter ⚠
p.Ala321= Single submitter
p.Ala321Val Single submitter Inborn genetic diseases ⚠
p.Ala328Gly Single submitter COL10A1-related disorder ⚠
p.Ala328Ser Single submitter Inborn genetic diseases ⚠
p.Ala375Ser Single submitter Inborn genetic diseases ⚠
p.Ala478Thr Single submitter Inborn genetic diseases ⚠
p.Ala481Glu Single submitter ⚠
p.Ala528fs Single submitter
p.Ala54Pro Single submitter ⚠
p.Ala640Pro Single submitter ⚠
p.Ala657Asp Single submitter ⚠
p.Ala68Thr Single submitter Inborn genetic diseases ⚠
p.Arg138Pro Single submitter ⚠
p.Arg138Trp Single submitter ⚠
p.Arg202Trp Single submitter Inborn genetic diseases ⚠
p.Arg222Ile Single submitter ⚠
p.Arg56Gly Single submitter Inborn genetic diseases ⚠
p.Arg71_Pro79del Single submitter
p.Asn486Ser Single submitter ⚠
p.Asn617_Gly618insSer Single submitter
p.Asn656Lys Single submitter ⚠
p.Asp385Glu Single submitter ⚠
p.Asp626Asn Single submitter ⚠
p.Asp643Ala Single submitter ⚠
p.Asp643His Single submitter ⚠
p.Gln208Arg Single submitter Inborn genetic diseases ⚠
p.Gln230Ter Single submitter
p.Gln252His Single submitter Inborn genetic diseases ⚠
p.Gln325His Single submitter ⚠
p.Gln325Lys Single submitter ⚠
p.Gln544Arg Single submitter Inborn genetic diseases ⚠
p.Gln579Lys Single submitter ⚠
p.Glu119Lys Single submitter ⚠
p.Glu224Arg Single submitter
p.Glu224Gly Single submitter Inborn genetic diseases ⚠
p.Glu224Lys Single submitter Inborn genetic diseases ⚠
p.Glu224Val Single submitter ⚠
p.Glu23Ala Single submitter ⚠
p.Glu261Gln Single submitter ⚠
p.Glu261Lys Single submitter ⚠
p.Glu503fs Single submitter Schmid metaphyseal chondrodysplasia
p.Glu503Lys Single submitter Inborn genetic diseases ⚠
p.Glu58Val Single submitter ⚠
p.Glu658Ter Single submitter Schmid metaphyseal chondrodysplasia
p.Glu93Lys Single submitter ⚠
p.Gly133Ala Single submitter ⚠
p.Gly142Glu Single submitter ⚠
p.Gly165Glu Single submitter ⚠
p.Gly180Glu Single submitter ⚠
p.Gly183Arg Single submitter ⚠
p.Gly189= Single submitter Schmid metaphyseal chondrodysplasia
p.Gly189Arg Single submitter ⚠
p.Gly192Glu Single submitter ⚠
p.Gly203Asp Single submitter ⚠
p.Gly206fs Single submitter
p.Gly212Glu Single submitter Inborn genetic diseases ⚠
p.Gly215Ser Single submitter ⚠
p.Gly229Arg Single submitter ⚠
p.Gly253Ser Single submitter ⚠
p.Gly256Glu Single submitter Inborn genetic diseases ⚠
p.Gly259Glu Single submitter ⚠
p.Gly270Arg Single submitter Inborn genetic diseases ⚠
p.Gly288Ala Single submitter ⚠
p.Gly291fs Single submitter
p.Gly320Ser Single submitter ⚠
p.Gly323Glu Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Gly335Asp Single submitter Inborn genetic diseases ⚠
p.Gly338Arg Single submitter ⚠
p.Gly341Arg Single submitter ⚠
p.Gly344Glu Single submitter Inborn genetic diseases ⚠
p.Gly350Asp Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Gly362Cys Single submitter Inborn genetic diseases ⚠
p.Gly365Arg Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Gly377Asp Single submitter Inborn genetic diseases ⚠
p.Gly377Val Single submitter ⚠
p.Gly389Trp Single submitter Inborn genetic diseases ⚠
p.Gly392Arg Single submitter ⚠
p.Gly395Arg Single submitter ⚠
p.Gly404Arg Single submitter ⚠
p.Gly416Arg Single submitter ⚠
p.Gly416Val Single submitter ⚠
p.Gly419Cys Single submitter ⚠
p.Gly419Ser Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Gly428Glu Single submitter Inborn genetic diseases ⚠
p.Gly434Arg Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Gly440Asp Single submitter Inborn genetic diseases ⚠
p.Gly458Arg Single submitter Inborn genetic diseases ⚠
p.Gly458Asp Single submitter ⚠
p.Gly470Arg Single submitter ⚠
p.Gly473Arg Single submitter ⚠
p.Gly484Ala Single submitter ⚠
p.Gly484Asp Single submitter ⚠
p.Gly52Asp Single submitter Inborn genetic diseases ⚠
p.Gly595Ala Single submitter ⚠
p.Gly618Cys Single submitter Inborn genetic diseases ⚠
p.Gly66Asp Single submitter ⚠
p.Gly674Glu Single submitter ⚠
p.Gly75Asp Single submitter Inborn genetic diseases ⚠
p.Gly78Glu Single submitter ⚠
p.Gly81Glu Single submitter ⚠
p.Gly86Ala Single submitter Inborn genetic diseases ⚠
p.Gly86fs Single submitter
p.His500Tyr Single submitter ⚠
p.His581Asn Single submitter ⚠
p.His581Tyr Single submitter Inborn genetic diseases ⚠
p.His602Pro Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.His609Gln Single submitter Inborn genetic diseases ⚠
p.Ile454Thr Single submitter Inborn genetic diseases ⚠
p.Ile454Val Single submitter ⚠
p.Ile480Leu Single submitter Inborn genetic diseases ⚠
p.Ile569Val Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Ile641Asn Single submitter ⚠
p.Ile642Ser Single submitter ⚠
p.Leu315Phe Single submitter Inborn genetic diseases ⚠
p.Leu485fs Single submitter
p.Leu575Phe Single submitter ⚠
p.Leu614Arg Single submitter ⚠
p.Leu614Pro Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Leu644Phe Single submitter ⚠
p.Leu676Pro Single submitter ⚠
p.Leu96Phe Single submitter ⚠
p.Lys116_Gly118del Single submitter
p.Lys188Glu Single submitter ⚠
p.Lys221Asn Single submitter ⚠
p.Lys281_Gly282insProGlyIleProGlyThrLys Single submitter
p.Lys300Glu Single submitter Inborn genetic diseases ⚠
p.Lys322Glu Single submitter ⚠
p.Lys387Ile Single submitter Inborn genetic diseases ⚠
p.Lys39Glu Single submitter ⚠
p.Lys616Met Single submitter Inborn genetic diseases ⚠
p.Lys630Glu Single submitter ⚠
p.Met184Lys Single submitter ⚠
p.Met27Arg Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Met343Lys Single submitter Inborn genetic diseases ⚠
p.Met432Arg Single submitter Inborn genetic diseases ⚠
p.Met521Leu Single submitter ⚠
p.Met622Thr Single submitter ⚠
p.Met680Lys Single submitter ⚠
p.Phe20= Single submitter Schmid metaphyseal chondrodysplasia
p.Phe589Ser Single submitter ⚠
p.Phe672Leu Single submitter ⚠
p.Pro100Leu Single submitter ⚠
p.Pro102Leu Single submitter Inborn genetic diseases ⚠
p.Pro108Arg Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Pro141Arg Single submitter ⚠
p.Pro141Thr Single submitter ⚠
p.Pro144Ala Single submitter ⚠
p.Pro149Leu Single submitter ⚠
p.Pro167fs Single submitter
p.Pro167Ser Single submitter ⚠
p.Pro169His Single submitter ⚠
p.Pro182Leu Single submitter Inborn genetic diseases ⚠
p.Pro196Ser Single submitter ⚠
p.Pro199Ser Single submitter ⚠
p.Pro207Ser Single submitter Inborn genetic diseases ⚠
p.Pro213_Ser214insPro Single submitter
p.Pro240Leu Single submitter ⚠
p.Pro249Arg Single submitter Inborn genetic diseases ⚠
p.Pro249Ser Single submitter ⚠
p.Pro266Arg Single submitter COL10A1-related disorder ⚠
p.Pro278Leu Single submitter Inborn genetic diseases ⚠
p.Pro293delinsGlnGluTer Single submitter
p.Pro331His Single submitter ⚠
p.Pro339Ala Single submitter ⚠
p.Pro348Leu Single submitter Inborn genetic diseases ⚠
p.Pro399Ser Single submitter ⚠
p.Pro423Leu Single submitter ⚠
p.Pro423Thr Single submitter ⚠
p.Pro457Leu Single submitter ⚠
p.Pro463Ser Single submitter ⚠
p.Pro475fs Single submitter
p.Pro477Arg Single submitter ⚠
p.Pro491Ala Single submitter ⚠
p.Pro491Arg Single submitter ⚠
p.Pro491Leu Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Pro492Ser Single submitter ⚠
p.Pro494Ser Single submitter Inborn genetic diseases ⚠
p.Pro509Arg Single submitter Inborn genetic diseases ⚠
p.Pro510_Pro513delinsArg Single submitter
p.Pro513Thr Single submitter Inborn genetic diseases ⚠
p.Pro522Thr Single submitter Inborn genetic diseases ⚠
p.Pro538Leu Single submitter Inborn genetic diseases ⚠
p.Pro62_Gly63insPro Single submitter
p.Pro620Leu Single submitter COL10A1-related disorder ⚠
p.Pro62Leu Single submitter Inborn genetic diseases ⚠
p.Pro65Ser Single submitter ⚠
p.Pro679Thr Single submitter ⚠
p.Pro67Arg Single submitter ⚠
p.Pro80Ala Single submitter Inborn genetic diseases ⚠
p.Pro97Ser Single submitter ⚠
p.Pro99Arg Single submitter ⚠
p.Ser354Gly Single submitter Inborn genetic diseases ⚠
p.Ser471Gly Single submitter ⚠
p.Ser501Phe Single submitter ⚠
p.Ser501Tyr Single submitter ⚠
p.Ser50Asn Single submitter ⚠
p.Ser541Arg Single submitter ⚠
p.Ser552Thr Single submitter ⚠
p.Ser600Pro Single submitter Schmid metaphyseal chondrodysplasia ⚠
p.Ser639Thr Single submitter ⚠
p.Ser659Leu Single submitter ⚠
p.Ser664Pro Single submitter ⚠
p.Ser670Tyr Single submitter ⚠
p.Thr164Ile Single submitter ⚠
p.Thr29Ile Single submitter ⚠
p.Thr40Ile Single submitter Inborn genetic diseases ⚠
p.Thr555Pro Single submitter ⚠
p.Thr590Ile Single submitter ⚠
p.Thr619Asn Single submitter ⚠
p.Thr619delinsSerArgLeuTer Single submitter
p.Thr61Ile Single submitter ⚠
p.Thr624Ser Single submitter Inborn genetic diseases ⚠
p.Thr645Pro Single submitter ⚠
p.Trp651Gly Single submitter ⚠
p.Trp651Leu Single submitter Schmid metaphyseal chondrodysplasia ⚠