BMP1 — 1017 ClinVar variants

All ClinVar germline BMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 271 flagged for review →

27 Pathogenic · 3 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 28 Conflicting · 63 Benign · 13 Benign/Likely benign · 579 Likely benign · 285 Uncertain significance

Full BMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 271

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

Predictors vs ClinVar 1

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

BMP1 p.Ala433Ser Pathogenic Single submitter
osteogenesis imperfecta type 13

Predictors agree, ClinVar conflicts 5

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

BMP1 p.Ala857Thr Conflicting Single submitter
Inborn genetic diseases
BMP1 p.Arg80His Conflicting Single submitter
Inborn genetic diseases
BMP1 p.Gly712Ser Conflicting Single submitter
osteogenesis imperfecta type 13
BMP1 p.Ile602Val Conflicting Single submitter
osteogenesis imperfecta type 13
BMP1 p.Val830Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 139

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

BMP1 p.Ala657Thr Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg351Pro Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg395Leu Uncertain significance Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Arg496Cys Uncertain significance Multiple submitters
BMP1 p.Arg585Cys Uncertain significance Multiple submitters
BMP1 p.Arg586His Uncertain significance Multiple submitters
BMP1 p.Arg628Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg811Gln Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg865Gln Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg937Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Cys375Gly Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Glu262Lys Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Gly141Arg Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Gly436Arg Uncertain significance Multiple submitters
BMP1 p.Gly533Arg Uncertain significance Multiple submitters
BMP1 p.Ile139Thr Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Leu567Val Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Lys459Glu Uncertain significance Multiple submitters
BMP1 p.Lys609Gln Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Met270Thr Uncertain significance Multiple submitters
BMP1 p.Phe544Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Pro104Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Ser692Phe Uncertain significance Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Thr29Asn Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Tyr509His Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Val542Ile Uncertain significance Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Val868Met Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Val905Met Uncertain significance Multiple submitters
BMP1 p.Ala50Thr Uncertain significance Single submitter
BMP1 p.Ala51Ser Uncertain significance Single submitter
BMP1 p.Ala538Val Uncertain significance Single submitter
BMP1 p.Ala623Val Uncertain significance Single submitter
osteogenesis imperfecta type 13
BMP1 p.Ala832Thr Uncertain significance Single submitter
BMP1 p.Arg192Cys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg238Cys Uncertain significance Single submitter
BMP1 p.Arg274Gly Uncertain significance Single submitter
osteogenesis imperfecta type 13
BMP1 p.Arg351Cys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg371Cys Uncertain significance Single submitter
BMP1 p.Arg383Gln Uncertain significance Single submitter
BMP1 p.Arg508Cys Uncertain significance Single submitter
osteogenesis imperfecta type 13
BMP1 p.Arg508Ser Uncertain significance Single submitter
BMP1 p.Arg586Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg652Cys Uncertain significance Single submitter
BMP1 p.Arg682His Uncertain significance Single submitter
osteogenesis imperfecta type 13
BMP1 p.Arg6Leu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg730Cys Uncertain significance Single submitter
BMP1 p.Arg75Thr Uncertain significance Single submitter
osteogenesis imperfecta
BMP1 p.Arg784Gly Uncertain significance Single submitter
BMP1 p.Arg836His Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asn101Lys Uncertain significance Single submitter
BMP1 p.Asn340Ser Uncertain significance Single submitter
BMP1 p.Asn680Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asn882Ser Uncertain significance Single submitter
BMP1 p.Asp309Asn Uncertain significance Single submitter
osteogenesis imperfecta type 13
BMP1 p.Asp328Glu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asp37Tyr Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asp491Asn Uncertain significance Single submitter
BMP1 p.Asp549Glu Uncertain significance Single submitter
BMP1 p.Asp647Asn Uncertain significance Single submitter
BMP1 p.Asp741Asn Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asp765Glu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asp803Glu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Cys559Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Cys742Phe Uncertain significance Single submitter
BMP1 p.Gln147Arg Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gln70His Uncertain significance Single submitter
BMP1 p.Gln848Arg Uncertain significance Single submitter
osteogenesis imperfecta type 13
BMP1 p.Glu501Asp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Glu547Gly Uncertain significance Single submitter
BMP1 p.Glu579Lys Uncertain significance Single submitter
BMP1 p.Glu706Lys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Glu795Gln Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Glu795Lys Uncertain significance Single submitter
BMP1 p.Gly184Arg Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly195Asp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly202Arg Uncertain significance Single submitter
BMP1 p.Gly308Glu Uncertain significance Single submitter
BMP1 p.Gly398Arg Uncertain significance Single submitter
BMP1 p.Gly398Val Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly3Arg Uncertain significance Single submitter
BMP1 p.Gly436Trp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly498Arg Uncertain significance Single submitter
BMP1 p.Gly507Arg Uncertain significance Single submitter
osteogenesis imperfecta type 13
BMP1 p.Gly557Arg Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly568Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly593Arg Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly782Glu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly810Glu Uncertain significance Single submitter
osteogenesis imperfecta type 13
BMP1 p.Gly861Arg Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly918Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly918Val Uncertain significance Single submitter
BMP1 p.His345Tyr Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.His499Asp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.His740Pro Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ile199Thr Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ile310Val Uncertain significance Single submitter
osteogenesis imperfecta
BMP1 p.Ile361Phe Uncertain significance Single submitter
osteogenesis imperfecta type 13
BMP1 p.Ile794Val Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Leu374Pro Uncertain significance Single submitter
BMP1 p.Leu53Phe Uncertain significance Single submitter
BMP1 p.Leu839Val Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Lys693Glu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Met346Leu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Phe364Cys Uncertain significance Single submitter
BMP1 p.Phe480Cys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Phe529Leu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Phe906Ser Uncertain significance Single submitter
BMP1 p.Pro104Arg Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Pro254Ala Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Pro605Leu Uncertain significance Single submitter
BMP1 p.Pro613Arg Uncertain significance Single submitter
BMP1 p.Ser278Cys Uncertain significance Single submitter
BMP1 p.Ser306Arg Uncertain significance Single submitter
osteogenesis imperfecta type 3
BMP1 p.Ser353Phe Uncertain significance Single submitter
BMP1 p.Ser420Arg Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ser448Leu Uncertain significance Single submitter
BMP1 p.Ser769Cys Uncertain significance Single submitter
BMP1 p.Ser82Thr Uncertain significance Single submitter
BMP1 p.Ser846Leu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ser960Trp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ser99Asn Uncertain significance Single submitter
BMP1 p.Thr263Ala Uncertain significance Single submitter
BMP1 p.Thr504Pro Uncertain significance Single submitter
BMP1 p.Thr603Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Trp526Cys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Tyr188Cys Uncertain significance Single submitter
BMP1 p.Tyr247Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Tyr264Cys Uncertain significance Single submitter
BMP1 p.Tyr377His Uncertain significance Single submitter
BMP1 p.Tyr512Cys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Tyr842His Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Val406Ile Uncertain significance Single submitter
BMP1 p.Val473Met Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Val649Met Uncertain significance Single submitter
BMP1 p.Val673Ile Uncertain significance Single submitter
BMP1 p.Val691Met Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Val734Ile Uncertain significance Single submitter
BMP1 p.Val864Leu Uncertain significance Single submitter
BMP1 p.Val902Met Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 126

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

BMP1 p.Ala813Val Uncertain significance Multiple submitters
BMP1 p.Arg152Gln Uncertain significance Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Arg314His Benign/Likely benign Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Arg351His Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg371His Benign/Likely benign Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Arg393Gln Uncertain significance Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Arg395His Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg411His Uncertain significance Multiple submitters
osteogenesis imperfecta
BMP1 p.Arg417Cys Uncertain significance Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Arg508His Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg524Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg562Trp Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg628His Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg730Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg76Trp Uncertain significance Multiple submitters
osteogenesis imperfecta
BMP1 p.Arg80Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg840His Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Arg865Trp Uncertain significance Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Asp267Asn Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Asp486Asn Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Asp497Asn Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Asp929Asn Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Glu60Lys Uncertain significance Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Glu828Lys Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Gly102Trp Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Gly12Arg Pathogenic/Likely pathogenic Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Gly819Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Pro613His Uncertain significance Multiple submitters
BMP1 p.Pro816Ala Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Ser796Phe Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Thr774Met Uncertain significance Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Thr92Ile Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Val349Met Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Val430Gly Uncertain significance Multiple submitters
Inborn genetic diseases
BMP1 p.Val719Ile Benign Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Val817Ala Benign Multiple submitters
osteogenesis imperfecta type 13
BMP1 p.Ala311Asp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ala489Val Uncertain significance Single submitter
BMP1 p.Ala49Gly Uncertain significance Single submitter
BMP1 p.Ala49Thr Uncertain significance Single submitter
BMP1 p.Ala745Val Uncertain significance Single submitter
BMP1 p.Ala813Thr Conflicting Single submitter
Inborn genetic diseases
BMP1 p.Arg113Lys Uncertain significance Single submitter
BMP1 p.Arg115Thr Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg119Trp Uncertain significance Single submitter
BMP1 p.Arg274Gln Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg304Gln Uncertain significance Single submitter
BMP1 p.Arg314Cys Uncertain significance Single submitter
BMP1 p.Arg314Leu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg373Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg417His Uncertain significance Single submitter
osteogenesis imperfecta
BMP1 p.Arg456Trp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg464Gln Uncertain significance Single submitter
BMP1 p.Arg464Trp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg524His Uncertain significance Single submitter
BMP1 p.Arg553Trp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg556Cys Uncertain significance Single submitter
BMP1 p.Arg562Gln Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg586Cys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg652His Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg784Gln Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Arg836Cys Uncertain significance Single submitter
BMP1 p.Arg849Gln Uncertain significance Single submitter
BMP1 p.Asn293Lys Uncertain significance Single submitter
BMP1 p.Asn293Ser Uncertain significance Single submitter
BMP1 p.Asn450Ser Uncertain significance Single submitter
BMP1 p.Asn641Asp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asn679Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asn689Asp Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asp37Asn Uncertain significance Single submitter
BMP1 p.Asp62Glu Uncertain significance Single submitter
BMP1 p.Asp765Asn Uncertain significance Single submitter
BMP1 p.Asp809Asn Uncertain significance Single submitter
BMP1 p.Asp881Asn Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asp926Asn Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Asp929Glu Uncertain significance Single submitter
BMP1 p.Asp962Glu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gln242Lys Uncertain significance Single submitter
BMP1 p.Glu672Lys Uncertain significance Single submitter
BMP1 p.Glu913Ala Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Glu913Lys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly294Ala Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly606Ser Uncertain significance Single submitter
BMP1 p.Gly713Ser Likely benign Single submitter
BMP1 p.Gly723Ser Uncertain significance Single submitter
BMP1 p.Gly746Ser Uncertain significance Single submitter
BMP1 p.Gly862Ala Uncertain significance Single submitter
BMP1 p.Gly880Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Gly901Ser Uncertain significance Single submitter
BMP1 p.His472Gln Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.His749Arg Uncertain significance Single submitter
BMP1 p.Ile286Leu Uncertain significance Single submitter
BMP1 p.Ile405Met Uncertain significance Single submitter
osteogenesis imperfecta type 3
BMP1 p.Ile434Ser Uncertain significance Single submitter
BMP1 p.Leu10Val Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Leu53Pro Uncertain significance Single submitter
BMP1 p.Leu818His Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Lys160Thr Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Lys826Glu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Lys957Met Uncertain significance Single submitter
BMP1 p.Phe821Leu Uncertain significance Single submitter
BMP1 p.Phe838Leu Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Phe978Cys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Pro391Ser Uncertain significance Single submitter
BMP1-related disorder
BMP1 p.Pro613Leu Uncertain significance Single submitter
BMP1 p.Pro829Thr Uncertain significance Single submitter
BMP1 p.Pro8Gln Uncertain significance Single submitter
BMP1 p.Ser458Arg Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ser458Ile Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ser552Phe Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ser753Phe Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Ser855Phe Uncertain significance Single submitter
BMP1 p.Thr226Ser Uncertain significance Single submitter
BMP1 p.Thr325Ser Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Thr330Ala Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Thr365Met Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Thr408Ala Uncertain significance Single submitter
BMP1 p.Thr504Ile Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Thr780Pro Uncertain significance Single submitter
BMP1 p.Tyr43Cys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Tyr678Cys Uncertain significance Single submitter
Inborn genetic diseases
BMP1 p.Val237Ala Uncertain significance Single submitter
BMP1 p.Val349Leu Uncertain significance Single submitter
BMP1 p.Val622Leu Uncertain significance Single submitter
BMP1 p.Val683Met Uncertain significance Single submitter
BMP1 p.Val817Ile Uncertain significance Single submitter

All BMP1 variants

Pathogenic 27

p.Gln197fs Multiple submitters osteogenesis imperfecta type 13
p.Gln730fs Multiple submitters osteogenesis imperfecta type 13
p.Gly12_Leu15del Multiple submitters osteogenesis imperfecta
p.Ala433Ser Single submitter osteogenesis imperfecta type 13 ⚠
p.Arg279Gly Single submitter osteogenesis imperfecta type 13
p.Arg811Ter Single submitter
p.Arg849Ter Single submitter
p.Asn248fs Single submitter
p.Asn614fs Single submitter
p.Gln105fs Single submitter
p.Gln878Ter Single submitter
p.Glu358fs Single submitter
p.Lys584fs Single submitter osteogenesis imperfecta
p.Lys704fs Single submitter
p.Met1Leu Single submitter
p.Met1Thr Single submitter
p.Met1Val Single submitter
p.Pro613fs Single submitter
p.Trp130fs Single submitter
p.Trp619Ter Single submitter
p.Trp892Ter Single submitter
p.Tyr578Ter Single submitter
p.Tyr611Ter Single submitter
p.Tyr646Ter Single submitter
c.2108-359T>C No assertion criteria osteogenesis imperfecta type 13
p.Asp703His No assertion criteria osteogenesis imperfecta type 13
p.Met270Val No assertion criteria osteogenesis imperfecta type 13

Pathogenic/Likely pathogenic 3

p.Cys183Ter Multiple submitters osteogenesis imperfecta type 13
p.Gln70Ter Multiple submitters
p.Gly12Arg Multiple submitters osteogenesis imperfecta type 13 ⚠

Likely pathogenic 19

c.1078-2A>G Single submitter
c.1181-2A>G Single submitter
c.1279_1297+3del Single submitter
c.1926+2dup Single submitter osteogenesis imperfecta type 13
c.2233+1G>C Single submitter
c.2233+1G>T Single submitter
c.2234-2A>G Single submitter
c.262+1G>A Single submitter
c.262+1G>T Single submitter
c.262+2T>C Single submitter
c.263-1G>A Single submitter
c.383_433+23del Single submitter
p.Cys322Tyr Single submitter osteogenesis imperfecta type 13
p.Gln677Ter Single submitter osteogenesis imperfecta type 13
p.Gly195fs Single submitter osteogenesis imperfecta
p.Phe249Leu Single submitter osteogenesis imperfecta type 13
p.Ter731Arg Single submitter osteogenesis imperfecta type 13
p.Trp763Ter Single submitter osteogenesis imperfecta type 13
p.Tyr377Ter Single submitter osteogenesis imperfecta type 13

Conflicting classifications of pathogenicity 28

c.1766-4G>A Single submitter
c.1927-13G>A Single submitter osteogenesis imperfecta type 13
c.2575+12G>A Single submitter osteogenesis imperfecta type 13
c.837-5T>C Single submitter osteogenesis imperfecta type 13
c.962-18C>G Single submitter osteogenesis imperfecta type 13
p.Ala541= Single submitter osteogenesis imperfecta type 13
p.Ala813Thr Single submitter Inborn genetic diseases ⚠
p.Ala857Thr Single submitter Inborn genetic diseases ⚠
p.Arg721Ter Single submitter
p.Arg80His Single submitter Inborn genetic diseases ⚠
p.Cys348= Single submitter osteogenesis imperfecta type 13
p.Cys917= Single submitter osteogenesis imperfecta type 13
p.Glu239= Single submitter osteogenesis imperfecta
p.Glu910= Single submitter osteogenesis imperfecta
p.Gly712Ser Single submitter osteogenesis imperfecta type 13 ⚠
p.His472= Single submitter osteogenesis imperfecta
p.Ile602Val Single submitter osteogenesis imperfecta type 13 ⚠
p.Phe722= Single submitter osteogenesis imperfecta type 13
p.Phe808= Single submitter osteogenesis imperfecta type 13
p.Pro829= Single submitter osteogenesis imperfecta
p.Thr365= Single submitter osteogenesis imperfecta
p.Thr915= Single submitter
p.Tyr646= Single submitter osteogenesis imperfecta type 13
p.Tyr802= Single submitter osteogenesis imperfecta type 13
p.Tyr900= Single submitter osteogenesis imperfecta type 13
p.Val134= Single submitter osteogenesis imperfecta type 13
p.Val68= Single submitter osteogenesis imperfecta type 13
p.Val830Ile Single submitter Inborn genetic diseases ⚠

Benign 63

c.1078-101G>T Multiple submitters
c.1180+109A>T Multiple submitters
c.1180+116A>G Multiple submitters
c.1180+176A>T Multiple submitters
c.1180+228A>G Multiple submitters
c.1297+14C>T Multiple submitters osteogenesis imperfecta type 13
c.1298-109A>C Multiple submitters
c.1640-81C>T Multiple submitters
c.1765+23T>C Multiple submitters osteogenesis imperfecta type 13
c.1766-5C>T Multiple submitters osteogenesis imperfecta type 13
c.1926+159C>A Multiple submitters
c.1926+88G>T Multiple submitters
c.1926+93C>T Multiple submitters
c.2107+41G>A Multiple submitters
c.2108-412G>A Multiple submitters
c.2233+165G>A Multiple submitters
c.2233+220G>A Multiple submitters
c.2233+79A>G Multiple submitters
c.2575+14T>C Multiple submitters osteogenesis imperfecta type 13
c.2575+150A>G Multiple submitters
c.2576-103C>T Multiple submitters osteogenesis imperfecta type 13
c.2576-17C>A Multiple submitters
c.263-41C>G Multiple submitters
c.2827-89C>T Multiple submitters osteogenesis imperfecta type 13
c.434-87C>T Multiple submitters
c.551+146C>T Multiple submitters
c.552-77G>A Multiple submitters
c.962-145T>C Multiple submitters
c.-170A>G Multiple submitters
p.Ala590= Multiple submitters osteogenesis imperfecta type 13
p.Ala71Ser Multiple submitters
p.Ala896= Multiple submitters osteogenesis imperfecta type 13
p.Asn293= Multiple submitters osteogenesis imperfecta type 13
p.Asp705= Multiple submitters osteogenesis imperfecta type 13
p.Gly880= Multiple submitters osteogenesis imperfecta type 13
p.Leu735= Multiple submitters osteogenesis imperfecta type 13
p.Val719Ile Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Val817Ala Multiple submitters osteogenesis imperfecta type 13 ⚠
c.1077+134G>A Single submitter
c.1077+144C>T Single submitter
c.1077+148G>C Single submitter
c.1077+247A>G Single submitter
c.1078-221C>T Single submitter
c.1181-290A>C Single submitter
c.1181-325A>G Single submitter
c.148+13del Single submitter
c.148+13dup Single submitter
c.148+21del Single submitter
c.148+21dup Single submitter
c.149-146T>C Single submitter
c.1765+204T>C Single submitter
c.2108-910C>A Single submitter
c.2233+17del Single submitter
c.2234-83del Single submitter
c.2576-151G>A Single submitter
c.2576-16del Single submitter
c.263-221C>A Single submitter
c.2826+257G>C Single submitter
c.2826+302C>T Single submitter
c.434-4G>A Single submitter
c.731-112dup Single submitter
c.962-172A>G Single submitter
p.Ser503= Single submitter

Benign/Likely benign 13

c.1180+5C>T Multiple submitters
c.2234-12G>A Multiple submitters osteogenesis imperfecta type 13
c.2234-16A>C Multiple submitters
c.2234-20C>T Multiple submitters osteogenesis imperfecta type 13
c.2827-4C>T Multiple submitters
c.433+12A>G Multiple submitters osteogenesis imperfecta type 13
c.-15C>G Multiple submitters osteogenesis imperfecta type 13
c.*145T>C Multiple submitters osteogenesis imperfecta type 13
c.*22G>A Multiple submitters osteogenesis imperfecta type 13
p.Ala390= Multiple submitters
p.Arg314His Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Arg371His Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Cys718= Multiple submitters osteogenesis imperfecta type 13

Likely benign 579

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

c.1078-13C>T Multiple submitters
c.1297+17C>T Multiple submitters
c.1297+18G>A Multiple submitters
c.1927-10T>C Multiple submitters
c.2107+12C>G Multiple submitters
c.2108-598G>A Multiple submitters
c.2234-19G>A Multiple submitters
c.2361+45G>A Multiple submitters
c.2827-108G>A Multiple submitters
c.2827-47C>G Multiple submitters
c.433+15G>A Multiple submitters
c.551+20C>A Multiple submitters
c.551+20C>T Multiple submitters
c.836+115C>T Multiple submitters
c.837-5T>A Multiple submitters
c.962-37G>A Multiple submitters
c.*108A>C Multiple submitters osteogenesis imperfecta type 13
c.*223C>T Multiple submitters osteogenesis imperfecta type 13
c.*350C>T Multiple submitters osteogenesis imperfecta type 13
c.*44G>C Multiple submitters osteogenesis imperfecta type 13
p.Asn421= Multiple submitters
p.Asn711= Multiple submitters
p.Cys435= Multiple submitters osteogenesis imperfecta type 13
p.Ser268= Multiple submitters
p.Thr774= Multiple submitters
p.Tyr377= Multiple submitters
p.Tyr490= Multiple submitters
p.Tyr928= Multiple submitters
c.1077+13T>C Single submitter
c.1077+14C>G Single submitter
c.1077+17C>G Single submitter
c.1077+261G>A Single submitter
c.1078-10G>A Single submitter
c.1078-12_1078-11del Single submitter
c.1078-15C>T Single submitter
c.1078-186G>C Single submitter
c.1078-37G>A Single submitter
c.1180+11del Single submitter
c.1180+15C>T Single submitter
c.1180+18C>T Single submitter
c.1180+19C>T Single submitter
c.1180+20C>G Single submitter
c.1180+21del Single submitter
c.1180+327T>C Single submitter
c.1180+7G>A Single submitter
c.1180+8C>T Single submitter
c.1181-16C>T Single submitter
c.1181-235C>T Single submitter
c.1181-292A>G Single submitter
c.1181-319G>A Single submitter
c.1181-4G>A Single submitter
c.1297+15G>A Single submitter
c.1298-20C>A Single submitter
c.1298-20C>G Single submitter
c.1298-8C>T Single submitter
c.1443+11G>A Single submitter
c.1443+12G>A Single submitter
c.1443+15C>T Single submitter
c.1443+39C>T Single submitter
c.1444-10C>G Single submitter
c.1444-10C>T Single submitter
c.1444-13C>A Single submitter
c.1444-13C>G Single submitter
c.1444-14G>A Single submitter
c.1444-15A>T Single submitter
c.1444-17G>T Single submitter
c.1444-18T>A Single submitter
c.1444-18T>C Single submitter
c.1444-20G>A Single submitter
c.1444-5C>T Single submitter
c.1444-7C>A Single submitter
c.1444-9G>A Single submitter
c.1444-9G>C Single submitter
c.1444-9G>T Single submitter
c.148+13C>T Single submitter
c.148+14G>A Single submitter
c.148+15G>A Single submitter
c.148+16C>A Single submitter
c.148+16C>T Single submitter
c.148+17C>A Single submitter
c.148+7GCCCCCCG[3] Single submitter
c.148+8C>T Single submitter
c.149-11T>C Single submitter
c.149-13C>G Single submitter
c.149-165G>A Single submitter
c.149-17T>G Single submitter
c.149-19CTT[2] Single submitter
c.149-8C>G Single submitter
c.149-8del Single submitter
c.1639+10_1639+11del Single submitter
c.1639+12G>C Single submitter
c.1639+15dup Single submitter
c.1639+18C>G Single submitter
c.1639+226T>G Single submitter
c.1639+7C>G Single submitter
c.1640-15T>G Single submitter
c.1640-161G>C Single submitter
c.1640-19C>A Single submitter
c.1640-20C>A Single submitter
c.1640-6C>T Single submitter
c.1640-92G>A Single submitter
c.1765+10C>T Single submitter
c.1765+11C>G Single submitter
c.1765+14G>T Single submitter
c.1765+19C>A Single submitter
c.1765+8C>G Single submitter
c.1765+8C>T Single submitter
c.1765+9C>A Single submitter
c.1765+9C>T Single submitter
c.1766-10G>A Single submitter
c.1766-18C>A Single submitter
c.1766-18C>G Single submitter
c.1766-19A>G Single submitter
c.1766-271A>G Single submitter
c.1766-4G>C Single submitter
c.1926+11_1926+12del Single submitter
c.1926+16G>A Single submitter
c.1926+18G>T Single submitter
c.1927-16C>T Single submitter
c.1927-4G>A Single submitter
c.2107+11A>T Single submitter
c.2107+14G>T Single submitter
c.2108-11C>T Single submitter
c.2108-12G>C Single submitter
c.2108-16A>G Single submitter
c.2108-26G>A Single submitter
c.2108-692G>A Single submitter
c.2108-693C>T Single submitter
c.2108-699C>T Single submitter
c.2108-6C>T Single submitter
c.2108-702_2108-700del Single submitter
c.2108-702T>C Single submitter
c.2108-702TC[4] Single submitter
c.2108-702TC[6] Single submitter
c.2108-703T>A Single submitter
c.2108-704C>T Single submitter
c.2108-9C>T Single submitter
c.2233+18G>C Single submitter
c.2233+7G>A Single submitter
c.2234-10T>C Single submitter
c.2234-11C>A Single submitter
c.2234-13C>T Single submitter
c.2234-9T>C Single submitter
c.2361+10C>A Single submitter
c.2361+18C>A Single submitter
c.2361+19A>C Single submitter
c.2361+20C>A Single submitter
c.2361+30G>A Single submitter
c.2361+8G>T Single submitter
c.2362-10A>G Single submitter
c.2362-11C>T Single submitter
c.2362-136G>A Single submitter
c.2362-14C>T Single submitter
c.2362-4C>G Single submitter
c.2362-6C>T Single submitter
c.2362-8C>T Single submitter
c.2575+11C>A Single submitter
c.2575+11C>G Single submitter
c.2575+11C>T Single submitter
c.2575+12G>C Single submitter
c.2575+16G>A Single submitter
c.2575+19G>T Single submitter
c.2575+8C>A Single submitter
c.2575+93G>A Single submitter
c.2575+9C>A Single submitter
c.2575+9C>G Single submitter
c.2575+9C>T Single submitter
c.2576-11G>T Single submitter
c.2576-166G>C Single submitter
c.2576-17C>G Single submitter
c.2576-20G>A Single submitter
c.2576-7C>G Single submitter
c.2576-7C>T Single submitter
c.2576-9C>T Single submitter
c.262+10G>C Single submitter
c.262+12G>T Single submitter
c.262+13C>T Single submitter
c.262+16A>G Single submitter
c.262+17T>C Single submitter
c.262+20G>A Single submitter
c.262+20G>T Single submitter
c.262+7C>T Single submitter
c.262+8G>A Single submitter
c.262+9G>T Single submitter
c.263-11dup Single submitter
c.263-14A>G Single submitter
c.263-17A>G Single submitter
c.263-4T>C Single submitter
c.263-9C>T Single submitter
c.2826+11C>A Single submitter
c.2826+13C>A Single submitter
c.2826+13C>T Single submitter
c.2826+14C>T Single submitter
c.2826+15C>A Single submitter
c.2826+18C>G Single submitter
c.2826+18C>T Single submitter
c.2826+19G>A Single submitter
c.2826+19G>T Single submitter
c.2826+8C>T Single submitter
c.433+10C>G Single submitter
c.433+11T>C Single submitter
c.433+18G>C Single submitter
c.433+18G>T Single submitter
c.433+7G>A Single submitter
c.433+7G>C Single submitter
c.434-17T>C Single submitter
c.434-19G>C Single submitter
c.434-7C>T Single submitter
c.434-8C>T Single submitter
c.551+16T>G Single submitter
c.551+19G>C Single submitter
c.551+7A>C Single submitter
c.551+9G>A Single submitter
c.552-4C>G Single submitter
c.552-9G>A Single submitter
c.730+10T>C Single submitter
c.730+15C>T Single submitter
c.730+17C>T Single submitter
c.730+18G>A Single submitter
c.730+18G>C Single submitter
c.730+7A>T Single submitter
c.730+9C>G Single submitter
c.731-15T>C Single submitter
c.731-25C>A Single submitter
c.731-306C>T Single submitter
c.731-8C>G Single submitter
c.731-9T>C Single submitter
c.836+10G>A Single submitter
c.836+14T>A Single submitter
c.836+14T>C Single submitter
c.836+15T>G Single submitter
c.836+9C>G Single submitter
c.836+9C>T Single submitter
c.837-11C>G Single submitter
c.837-12C>T Single submitter
c.837-17T>C Single submitter
c.837-17T>G Single submitter
c.837-20del Single submitter
c.837-229G>A Single submitter
c.837-53C>G Single submitter
c.837-9C>T Single submitter
c.961+20G>A Single submitter
c.961+20G>T Single submitter
c.961+8C>T Single submitter
c.962-16T>C Single submitter
c.962-175G>A Single submitter
c.962-17A>G Single submitter
c.962-18C>T Single submitter
c.962-4A>G Single submitter
c.962-5C>T Single submitter
c.962-7C>G Single submitter
c.962-7C>T Single submitter
c.962-8C>T Single submitter
c.*328T>C Single submitter osteogenesis imperfecta type 13
c.*444C>T Single submitter osteogenesis imperfecta type 13
p.Ala121= Single submitter
p.Ala149= Single submitter
p.Ala154= Single submitter
p.Ala26= Single submitter
p.Ala321= Single submitter
p.Ala344= Single submitter
p.Ala51= Single submitter
p.Ala538= Single submitter
p.Ala581= Single submitter
p.Ala745= Single submitter
p.Ala776= Single submitter
p.Ala815= Single submitter
p.Ala854= Single submitter
p.Ala857= Single submitter
p.Ala86= Single submitter
p.Ala950= Single submitter
p.Arg111= Single submitter
p.Arg113= Single submitter
p.Arg115= Single submitter
p.Arg117= Single submitter
p.Arg125= Single submitter
p.Arg148= Single submitter
p.Arg156= Single submitter
p.Arg192= Single submitter
p.Arg227= Single submitter
p.Arg232= Single submitter
p.Arg274= Single submitter
p.Arg351= Single submitter
p.Arg464= Single submitter
p.Arg496= Single submitter
p.Arg556= Single submitter
p.Arg6= Single submitter
p.Arg682= Single submitter
p.Arg712Gln Single submitter
p.Arg712Trp Single submitter
p.Arg714Cys Single submitter
p.Arg714His Single submitter
p.Arg721= Single submitter
p.Arg721Gln Single submitter
p.Arg725= Single submitter
p.Arg727Gln Single submitter
p.Arg76Gln Single submitter Inborn genetic diseases
p.Arg784= Single submitter
p.Arg865= Single submitter
p.Arg934= Single submitter

Uncertain significance 285

c.1443+6T>C Multiple submitters
c.1639+4C>G Multiple submitters BMP1-related disorder
c.2233+4C>T Multiple submitters
c.*452A>C Multiple submitters osteogenesis imperfecta type 13
p.Ala657Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala813Val Multiple submitters ⚠
p.Arg152Gln Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Arg351His Multiple submitters Inborn genetic diseases ⚠
p.Arg351Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg393Gln Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Arg395His Multiple submitters Inborn genetic diseases ⚠
p.Arg395Leu Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Arg411His Multiple submitters osteogenesis imperfecta ⚠
p.Arg417Cys Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Arg496Cys Multiple submitters ⚠
p.Arg508His Multiple submitters Inborn genetic diseases ⚠
p.Arg524Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg562Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg585Cys Multiple submitters ⚠
p.Arg586His Multiple submitters ⚠
p.Arg628Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg628His Multiple submitters Inborn genetic diseases ⚠
p.Arg730Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg76Trp Multiple submitters osteogenesis imperfecta ⚠
p.Arg80Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg811Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg840His Multiple submitters Inborn genetic diseases ⚠
p.Arg865Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg865Trp Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Arg937Cys Multiple submitters Inborn genetic diseases ⚠
p.Asp267Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp486Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp497Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp929Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys375Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu262Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu60Lys Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Glu828Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly102Trp Multiple submitters Inborn genetic diseases ⚠
p.Gly141Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly436Arg Multiple submitters ⚠
p.Gly533Arg Multiple submitters ⚠
p.Gly819Ser Multiple submitters Inborn genetic diseases ⚠
p.Ile139Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu567Val Multiple submitters Inborn genetic diseases ⚠
p.Lys459Glu Multiple submitters ⚠
p.Lys609Gln Multiple submitters Inborn genetic diseases ⚠
p.Met270Thr Multiple submitters ⚠
p.Phe544Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro104Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro613His Multiple submitters ⚠
p.Pro816Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser692Phe Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Ser796Phe Multiple submitters Inborn genetic diseases ⚠
p.Thr29Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr774Met Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Thr92Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr509His Multiple submitters Inborn genetic diseases ⚠
p.Val349Met Multiple submitters Inborn genetic diseases ⚠
p.Val430Gly Multiple submitters Inborn genetic diseases ⚠
p.Val542Ile Multiple submitters osteogenesis imperfecta type 13 ⚠
p.Val868Met Multiple submitters Inborn genetic diseases ⚠
p.Val905Met Multiple submitters ⚠
c.1077+4C>A Single submitter
c.1639+3G>T Single submitter
c.2233+5G>A Single submitter
c.*121C>G Single submitter osteogenesis imperfecta type 13
c.*172A>C Single submitter osteogenesis imperfecta type 13
c.*208G>T Single submitter osteogenesis imperfecta type 13
c.*275G>A Single submitter osteogenesis imperfecta type 13
c.*2C>T Single submitter
c.*325C>G Single submitter osteogenesis imperfecta type 13
c.*333G>A Single submitter osteogenesis imperfecta type 13
c.*339T>C Single submitter osteogenesis imperfecta type 13
c.*503G>A Single submitter osteogenesis imperfecta type 13
c.*513A>G Single submitter osteogenesis imperfecta type 13
c.*525G>T Single submitter osteogenesis imperfecta type 13
c.*601T>C Single submitter osteogenesis imperfecta type 13
p.Ala122del Single submitter
p.Ala311Asp Single submitter Inborn genetic diseases ⚠
p.Ala489Val Single submitter ⚠
p.Ala49Gly Single submitter ⚠
p.Ala49Thr Single submitter ⚠
p.Ala50Thr Single submitter ⚠
p.Ala51Ser Single submitter ⚠
p.Ala538Val Single submitter ⚠
p.Ala623Val Single submitter osteogenesis imperfecta type 13 ⚠
p.Ala745Val Single submitter ⚠
p.Ala832Thr Single submitter ⚠
p.Arg113Lys Single submitter ⚠
p.Arg115Thr Single submitter Inborn genetic diseases ⚠
p.Arg119Trp Single submitter ⚠
p.Arg192Cys Single submitter Inborn genetic diseases ⚠
p.Arg238Cys Single submitter ⚠
p.Arg274Gln Single submitter Inborn genetic diseases ⚠
p.Arg274Gly Single submitter osteogenesis imperfecta type 13 ⚠
p.Arg304Gln Single submitter ⚠
p.Arg314Cys Single submitter ⚠
p.Arg314Leu Single submitter Inborn genetic diseases ⚠
p.Arg351Cys Single submitter Inborn genetic diseases ⚠
p.Arg371Cys Single submitter ⚠
p.Arg373Ser Single submitter Inborn genetic diseases ⚠
p.Arg383Gln Single submitter ⚠
p.Arg417His Single submitter osteogenesis imperfecta ⚠
p.Arg456Trp Single submitter Inborn genetic diseases ⚠
p.Arg464Gln Single submitter ⚠
p.Arg464Trp Single submitter Inborn genetic diseases ⚠
p.Arg508Cys Single submitter osteogenesis imperfecta type 13 ⚠
p.Arg508Ser Single submitter ⚠
p.Arg524His Single submitter ⚠
p.Arg553Trp Single submitter Inborn genetic diseases ⚠
p.Arg556Cys Single submitter ⚠
p.Arg562Gln Single submitter Inborn genetic diseases ⚠
p.Arg586Cys Single submitter Inborn genetic diseases ⚠
p.Arg586Ser Single submitter Inborn genetic diseases ⚠
p.Arg652Cys Single submitter ⚠
p.Arg652His Single submitter Inborn genetic diseases ⚠
p.Arg682His Single submitter osteogenesis imperfecta type 13 ⚠
p.Arg6Leu Single submitter Inborn genetic diseases ⚠
p.Arg721fs Single submitter
p.Arg727Trp Single submitter
p.Arg730Cys Single submitter ⚠
p.Arg75Thr Single submitter osteogenesis imperfecta ⚠
p.Arg784Gln Single submitter Inborn genetic diseases ⚠
p.Arg784Gly Single submitter ⚠
p.Arg836Cys Single submitter ⚠
p.Arg836His Single submitter Inborn genetic diseases ⚠
p.Arg849Gln Single submitter ⚠
p.Asn101Lys Single submitter ⚠
p.Asn293Lys Single submitter ⚠
p.Asn293Ser Single submitter ⚠
p.Asn340Ser Single submitter ⚠
p.Asn421_Gly426delinsSer Single submitter
p.Asn450Ser Single submitter ⚠
p.Asn641Asp Single submitter Inborn genetic diseases ⚠
p.Asn679Ser Single submitter Inborn genetic diseases ⚠
p.Asn680Ser Single submitter Inborn genetic diseases ⚠
p.Asn689Asp Single submitter Inborn genetic diseases ⚠
p.Asn882Ser Single submitter ⚠
p.Asp309Asn Single submitter osteogenesis imperfecta type 13 ⚠
p.Asp328Glu Single submitter Inborn genetic diseases ⚠
p.Asp37Asn Single submitter ⚠
p.Asp37Tyr Single submitter Inborn genetic diseases ⚠
p.Asp491Asn Single submitter ⚠
p.Asp549Glu Single submitter ⚠
p.Asp62Glu Single submitter ⚠
p.Asp647Asn Single submitter ⚠
p.Asp741Asn Single submitter Inborn genetic diseases ⚠
p.Asp765Asn Single submitter ⚠
p.Asp765Glu Single submitter Inborn genetic diseases ⚠
p.Asp803Glu Single submitter Inborn genetic diseases ⚠
p.Asp809Asn Single submitter ⚠
p.Asp881Asn Single submitter Inborn genetic diseases ⚠
p.Asp926Asn Single submitter Inborn genetic diseases ⚠
p.Asp929Glu Single submitter ⚠
p.Asp962Glu Single submitter Inborn genetic diseases ⚠
p.Cys559Ser Single submitter Inborn genetic diseases ⚠
p.Cys742Phe Single submitter ⚠
p.Gln147Arg Single submitter Inborn genetic diseases ⚠
p.Gln242Lys Single submitter ⚠
p.Gln70His Single submitter ⚠
p.Gln848Arg Single submitter osteogenesis imperfecta type 13 ⚠
p.Glu501Asp Single submitter Inborn genetic diseases ⚠
p.Glu547Gly Single submitter ⚠
p.Glu579Lys Single submitter ⚠
p.Glu672Lys Single submitter ⚠
p.Glu706Lys Single submitter Inborn genetic diseases ⚠
p.Glu795Gln Single submitter Inborn genetic diseases ⚠
p.Glu795Lys Single submitter ⚠
p.Glu913Ala Single submitter Inborn genetic diseases ⚠
p.Glu913Lys Single submitter Inborn genetic diseases ⚠
p.Gly184Arg Single submitter Inborn genetic diseases ⚠
p.Gly195Asp Single submitter Inborn genetic diseases ⚠
p.Gly202Arg Single submitter ⚠
p.Gly294Ala Single submitter Inborn genetic diseases ⚠
p.Gly308Glu Single submitter ⚠
p.Gly398Arg Single submitter ⚠
p.Gly398Val Single submitter Inborn genetic diseases ⚠
p.Gly3Arg Single submitter ⚠
p.Gly436Trp Single submitter Inborn genetic diseases ⚠
p.Gly498Arg Single submitter ⚠
p.Gly507Arg Single submitter osteogenesis imperfecta type 13 ⚠
p.Gly557Arg Single submitter Inborn genetic diseases ⚠
p.Gly568Ser Single submitter Inborn genetic diseases ⚠
p.Gly593Arg Single submitter Inborn genetic diseases ⚠
p.Gly606Ser Single submitter ⚠
p.Gly723Ser Single submitter ⚠
p.Gly746Ser Single submitter ⚠
p.Gly782Glu Single submitter Inborn genetic diseases ⚠
p.Gly810Glu Single submitter osteogenesis imperfecta type 13 ⚠
p.Gly861Arg Single submitter Inborn genetic diseases ⚠
p.Gly862Ala Single submitter ⚠
p.Gly880Ser Single submitter Inborn genetic diseases ⚠
p.Gly901Ser Single submitter ⚠
p.Gly918Ser Single submitter Inborn genetic diseases ⚠
p.Gly918Val Single submitter ⚠
p.His345Tyr Single submitter Inborn genetic diseases ⚠
p.His472Gln Single submitter Inborn genetic diseases ⚠
p.His499Asp Single submitter Inborn genetic diseases ⚠
p.His740Pro Single submitter Inborn genetic diseases ⚠
p.His749Arg Single submitter ⚠
p.Ile199Thr Single submitter Inborn genetic diseases ⚠
p.Ile286Leu Single submitter ⚠
p.Ile310Val Single submitter osteogenesis imperfecta ⚠
p.Ile361Phe Single submitter osteogenesis imperfecta type 13 ⚠
p.Ile405Met Single submitter osteogenesis imperfecta type 3 ⚠
p.Ile434Ser Single submitter ⚠
p.Ile794Val Single submitter Inborn genetic diseases ⚠
p.Leu10Val Single submitter Inborn genetic diseases ⚠
p.Leu374Pro Single submitter ⚠
p.Leu53Phe Single submitter ⚠
p.Leu53Pro Single submitter ⚠
p.Leu818His Single submitter Inborn genetic diseases ⚠
p.Leu839Val Single submitter Inborn genetic diseases ⚠
p.Leu935= Single submitter osteogenesis imperfecta type 13
p.Lys160Thr Single submitter Inborn genetic diseases ⚠
p.Lys693Glu Single submitter Inborn genetic diseases ⚠
p.Lys826Glu Single submitter Inborn genetic diseases ⚠
p.Lys957Met Single submitter ⚠
p.Met346Leu Single submitter Inborn genetic diseases ⚠
p.Phe364Cys Single submitter ⚠
p.Phe480Cys Single submitter Inborn genetic diseases ⚠
p.Phe529Leu Single submitter Inborn genetic diseases ⚠
p.Phe821Leu Single submitter ⚠
p.Phe838Leu Single submitter Inborn genetic diseases ⚠
p.Phe906Ser Single submitter ⚠
p.Phe978Cys Single submitter Inborn genetic diseases ⚠
p.Pro104Arg Single submitter Inborn genetic diseases ⚠
p.Pro254Ala Single submitter Inborn genetic diseases ⚠
p.Pro391Ser Single submitter BMP1-related disorder ⚠
p.Pro605Leu Single submitter ⚠
p.Pro613Arg Single submitter ⚠
p.Pro613Leu Single submitter ⚠
p.Pro829Thr Single submitter ⚠
p.Pro8Gln Single submitter ⚠
p.Ser278Cys Single submitter ⚠
p.Ser306Arg Single submitter osteogenesis imperfecta type 3 ⚠
p.Ser353Phe Single submitter ⚠
p.Ser420Arg Single submitter Inborn genetic diseases ⚠
p.Ser448Leu Single submitter ⚠
p.Ser458Arg Single submitter Inborn genetic diseases ⚠
p.Ser458Ile Single submitter Inborn genetic diseases ⚠
p.Ser552Phe Single submitter Inborn genetic diseases ⚠
p.Ser753Phe Single submitter Inborn genetic diseases ⚠
p.Ser769Cys Single submitter ⚠
p.Ser82Thr Single submitter ⚠
p.Ser846Leu Single submitter Inborn genetic diseases ⚠
p.Ser855Phe Single submitter ⚠
p.Ser960Trp Single submitter Inborn genetic diseases ⚠
p.Ser99Asn Single submitter ⚠
p.Ter731Cys Single submitter
p.Ter731Gly Single submitter
p.Thr226Ser Single submitter ⚠
p.Thr263Ala Single submitter ⚠
p.Thr325Ser Single submitter Inborn genetic diseases ⚠
p.Thr330Ala Single submitter Inborn genetic diseases ⚠
p.Thr365Met Single submitter Inborn genetic diseases ⚠
p.Thr408Ala Single submitter ⚠
p.Thr504Ile Single submitter Inborn genetic diseases ⚠
p.Thr504Pro Single submitter ⚠
p.Thr603Ser Single submitter Inborn genetic diseases ⚠
p.Thr780Pro Single submitter ⚠
p.Trp526Cys Single submitter Inborn genetic diseases ⚠
p.Tyr188Cys Single submitter ⚠
p.Tyr247Ser Single submitter Inborn genetic diseases ⚠
p.Tyr264Cys Single submitter ⚠
p.Tyr377His Single submitter ⚠
p.Tyr43Cys Single submitter Inborn genetic diseases ⚠
p.Tyr512Cys Single submitter Inborn genetic diseases ⚠
p.Tyr678Cys Single submitter Inborn genetic diseases ⚠
p.Tyr842His Single submitter Inborn genetic diseases ⚠
p.Tyr874= Single submitter osteogenesis imperfecta type 13
p.Val237Ala Single submitter ⚠
p.Val349Leu Single submitter ⚠
p.Val406Ile Single submitter ⚠
p.Val473Met Single submitter Inborn genetic diseases ⚠
p.Val622Leu Single submitter ⚠
p.Val649Met Single submitter ⚠
p.Val673Ile Single submitter ⚠
p.Val683Met Single submitter ⚠
p.Val691Met Single submitter Inborn genetic diseases ⚠
p.Val734Ile Single submitter ⚠
p.Val817Ile Single submitter ⚠
p.Val864Leu Single submitter ⚠
p.Val902Met Single submitter Inborn genetic diseases ⚠