SERPINH1 — 294 ClinVar variants
All ClinVar germline SERPINH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
9 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 23 Conflicting · 17 Benign · 4 Benign/Likely benign · 81 Likely benign · 158 Uncertain significance
Full SERPINH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SERPINH1 p.Ala33Pro
Conflicting
Single submitter
Inborn genetic diseases
- SERPINH1 p.Arg116Ser Conflicting Single submitter
-
SERPINH1 p.Arg194Ser
Conflicting
Single submitter
osteogenesis imperfecta type 10
-
SERPINH1 p.Glu100Lys
Conflicting
Single submitter
osteogenesis imperfecta type 10
-
SERPINH1 p.Gly31Ala
Conflicting
Single submitter
osteogenesis imperfecta type 10
-
SERPINH1 p.Ile161Leu
Conflicting
Single submitter
Inborn genetic diseases
- SERPINH1 p.Ser98Asn Conflicting Single submitter
-
SERPINH1 p.Thr189Ala
Conflicting
Single submitter
osteogenesis imperfecta type 10
- SERPINH1 p.Val407Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 84
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SERPINH1 p.Arg239Trp
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 10
-
SERPINH1 p.Arg280His
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 10
-
SERPINH1 p.Arg393Gln
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 10
-
SERPINH1 p.Arg408Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Asn162Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Asp191Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SERPINH1 p.Asp412Glu Uncertain significance Multiple submitters
- SERPINH1 p.Glu193Asp Uncertain significance Multiple submitters
-
SERPINH1 p.Lys410Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Met340Ile
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 10
-
SERPINH1 p.Met340Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Pro259Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Pro277Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Ser91Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Val107Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Val351Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Ala109Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Ala123Ser Uncertain significance Single submitter
-
SERPINH1 p.Ala123Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Ala16Ser Uncertain significance Single submitter
- SERPINH1 p.Ala19Thr Uncertain significance Single submitter
-
SERPINH1 p.Ala25Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Ala25Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Ala261Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Ala356Thr Uncertain significance Single submitter
-
SERPINH1 p.Ala40Val
Uncertain significance
Single submitter
osteogenesis imperfecta type 10
- SERPINH1 p.Ala44Gly Uncertain significance Single submitter
-
SERPINH1 p.Ala44Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Ala57Thr Uncertain significance Single submitter
-
SERPINH1 p.Ala63Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Ala99Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Arg103His Uncertain significance Single submitter
-
SERPINH1 p.Arg124Cys
Uncertain significance
Single submitter
osteogenesis imperfecta
-
SERPINH1 p.Arg148His
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Arg222Cys Uncertain significance Single submitter
-
SERPINH1 p.Arg228Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Arg339Cys Uncertain significance Single submitter
-
SERPINH1 p.Arg339His
Uncertain significance
Single submitter
osteogenesis imperfecta type 10
- SERPINH1 p.Arg373His Uncertain significance Single submitter
-
SERPINH1 p.Arg377His
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Arg405Leu Uncertain significance Single submitter
-
SERPINH1 p.Arg405Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Arg415Gln
Uncertain significance
Single submitter
osteogenesis imperfecta type 10
- SERPINH1 p.Asn174Lys Uncertain significance Single submitter
-
SERPINH1 p.Asn244Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Asp191Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Asp211Asn Uncertain significance Single submitter
- SERPINH1 p.Asp247Asn Uncertain significance Single submitter
-
SERPINH1 p.Asp248Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Asp345Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Gln152Arg Uncertain significance Single submitter
-
SERPINH1 p.Gln254Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Glu113Asp
Uncertain significance
Single submitter
osteogenesis imperfecta type 10
-
SERPINH1 p.Glu113Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Glu157Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Glu20Lys
Uncertain significance
Single submitter
osteogenesis imperfecta type 10
- SERPINH1 p.Glu249Asp Uncertain significance Single submitter
-
SERPINH1 p.Glu249Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Glu257Asp Uncertain significance Single submitter
-
SERPINH1 p.Glu279Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Glu34Lys Uncertain significance Single submitter
-
SERPINH1 p.Gly309Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Gly323Arg Uncertain significance Single submitter
-
SERPINH1 p.His262Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Ile304Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Ile403Val Uncertain significance Single submitter
- SERPINH1 p.Leu102Gln Uncertain significance Single submitter
-
SERPINH1 p.Leu118Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Leu260Pro Uncertain significance Single submitter
-
SERPINH1 p.Lys160Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Lys263Arg Uncertain significance Single submitter
- SERPINH1 p.Lys332Asn Uncertain significance Single submitter
-
SERPINH1 p.Lys380Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Phe214Leu Uncertain significance Single submitter
-
SERPINH1 p.Pro365Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Ser350Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Ser397Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Thr32Ala Uncertain significance Single submitter
- SERPINH1 p.Thr32Ile Uncertain significance Single submitter
-
SERPINH1 p.Thr395Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Val140Gly Uncertain significance Single submitter
-
SERPINH1 p.Val74Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Arg405His
Uncertain significance
No assertion criteria
osteogenesis imperfecta type 10
- SERPINH1 p.Gly183Cys Uncertain significance No assertion criteria
Predictors split 40
The independent predictors disagree with each other — read with care.
-
SERPINH1 p.Ala169Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Arg393Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Arg408Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SERPINH1 p.Glu276Ala Uncertain significance Multiple submitters
-
SERPINH1 p.Glu417Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Ile403Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Lys35Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SERPINH1 p.Met237Thr
Pathogenic/Likely pathogenic
Multiple submitters
osteogenesis imperfecta type 10
- SERPINH1 p.Val219Met Uncertain significance Multiple submitters
-
SERPINH1 p.Ala59Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Arg103Cys Uncertain significance Single submitter
- SERPINH1 p.Arg116Cys Uncertain significance Single submitter
-
SERPINH1 p.Arg239Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Arg239Leu Uncertain significance Single submitter
- SERPINH1 p.Asn125Lys Uncertain significance Single submitter
-
SERPINH1 p.Asn221Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Asp220Asn Uncertain significance Single submitter
- SERPINH1 p.Asp385Asn Uncertain significance Single submitter
- SERPINH1 p.Glu45Lys Uncertain significance Single submitter
- SERPINH1 p.Gly183Arg Uncertain significance Single submitter
- SERPINH1 p.Gly183Ser Uncertain significance Single submitter
- SERPINH1 p.Gly233Cys Uncertain significance Single submitter
- SERPINH1 p.Gly372Arg Uncertain significance Single submitter
- SERPINH1 p.His238Tyr Uncertain significance Single submitter
- SERPINH1 p.Ile389Thr Uncertain significance Single submitter
-
SERPINH1 p.Leu115Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Leu401Val Uncertain significance Single submitter
-
SERPINH1 p.Lys160Asn
Uncertain significance
Single submitter
osteogenesis imperfecta type 10
-
SERPINH1 p.Lys308Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SERPINH1 p.Met236Thr Uncertain significance Single submitter
- SERPINH1 p.Met258Ile Uncertain significance Single submitter
-
SERPINH1 p.Phe142Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Pro137Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SERPINH1 p.Ser47Gly
Uncertain significance
Single submitter
osteogenesis imperfecta type 10
-
SERPINH1 p.Ser76Leu
Conflicting
Single submitter
Inborn genetic diseases
- SERPINH1 p.Ser76Trp Uncertain significance Single submitter
- SERPINH1 p.Thr122Met Uncertain significance Single submitter
- SERPINH1 p.Thr231Ile Uncertain significance Single submitter
- SERPINH1 p.Tyr371Asn Uncertain significance Single submitter
-
SERPINH1 p.Val232Met
Uncertain significance
Single submitter
Inborn genetic diseases
All SERPINH1 variants
Pathogenic 9
- c.954+1G>T Single submitter
- p.Gln152Ter Single submitter
- p.Gln289fs Single submitter
- p.Gln62Ter Single submitter
- p.Gly325fs Single submitter
- p.His108fs Single submitter
- p.Tyr135Ter Single submitter
- p.Asp412Ter No assertion criteria osteogenesis imperfecta type 10
- p.Leu78Pro No assertion criteria osteogenesis imperfecta type 10
Pathogenic/Likely pathogenic 1
- p.Met237Thr Multiple submitters osteogenesis imperfecta type 10 ⚠
Likely pathogenic 1
- p.Phe146Leu Single submitter
Conflicting classifications of pathogenicity 23
- c.721+9T>C Single submitter osteogenesis imperfecta
- c.*4C>G Single submitter osteogenesis imperfecta type 10
- p.Ala33Pro Single submitter Inborn genetic diseases ⚠
- p.Ala384= Single submitter osteogenesis imperfecta type 10
- p.Arg116Ser Single submitter ⚠
- p.Arg164= Single submitter osteogenesis imperfecta type 10
- p.Arg194Ser Single submitter osteogenesis imperfecta type 10 ⚠
- p.Arg373= Single submitter osteogenesis imperfecta type 10
- p.Asp196= Single submitter osteogenesis imperfecta type 10
- p.Asp248= Single submitter osteogenesis imperfecta
- p.Glu100Lys Single submitter osteogenesis imperfecta type 10 ⚠
- p.Gly131= Single submitter
- p.Gly31Ala Single submitter osteogenesis imperfecta type 10 ⚠
- p.His353= Single submitter osteogenesis imperfecta type 10
- p.Ile161Leu Single submitter Inborn genetic diseases ⚠
- p.Ile255= Single submitter
- p.Leu281= Single submitter osteogenesis imperfecta
- p.Leu321fs Single submitter
- p.Leu54= Single submitter osteogenesis imperfecta type 10
- p.Ser76Leu Single submitter Inborn genetic diseases ⚠
- p.Ser98Asn Single submitter ⚠
- p.Thr189Ala Single submitter osteogenesis imperfecta type 10 ⚠
- p.Val407Leu Single submitter ⚠
Benign 17
- c.622+25TCC[6] Multiple submitters osteogenesis imperfecta type 10
- c.623-237C>T Multiple submitters
- c.954+262T>A Multiple submitters
- c.955-6C>A Multiple submitters osteogenesis imperfecta type 10
- c.-19C>T Multiple submitters osteogenesis imperfecta type 10
- c.-73G>A Multiple submitters osteogenesis imperfecta type 10
- c.*125A>G Multiple submitters osteogenesis imperfecta type 10
- c.*525C>A Multiple submitters osteogenesis imperfecta type 10
- p.Leu200= Multiple submitters osteogenesis imperfecta type 10
- p.Leu337= Multiple submitters osteogenesis imperfecta type 10
- p.Leu78= Multiple submitters osteogenesis imperfecta type 10
- p.Ser121= Multiple submitters osteogenesis imperfecta type 10
- p.Thr231= Multiple submitters osteogenesis imperfecta type 10
- c.622+276A>G Single submitter
- c.-189G>A Single submitter osteogenesis imperfecta type 10
- c.*490G>A Single submitter osteogenesis imperfecta type 10
- c.*580T>G Single submitter osteogenesis imperfecta type 10
Benign/Likely benign 4
- c.722-13G>A Multiple submitters
- p.Ala63Val Multiple submitters osteogenesis imperfecta
- p.Thr122= Multiple submitters
- p.Thr89= Multiple submitters osteogenesis imperfecta type 10
Likely benign 81
- c.722-15C>T Multiple submitters
- c.-34-103G>A Multiple submitters
- p.Ala26= Multiple submitters
- p.Arg280= Multiple submitters
- p.Asp247= Multiple submitters
- p.Asp416= Multiple submitters Inborn genetic diseases
- p.Glu34= Multiple submitters
- p.Ile268= Multiple submitters
- p.Leu278= Multiple submitters
- p.Tyr230= Multiple submitters
- c.622+12G>A Single submitter
- c.622+223G>C Single submitter
- c.622+228C>T Single submitter
- c.622+257A>G Single submitter
- c.622+7C>T Single submitter
- c.622+8G>A Single submitter
- c.622+8G>T Single submitter
- c.623-20G>A Single submitter
- c.722-12C>T Single submitter
- c.722-14C>T Single submitter
- c.722-7C>T Single submitter
- c.954+15_954+18dup Single submitter
- c.955-10del Single submitter
- c.955-19C>T Single submitter
- c.955-7C>T Single submitter
- c.-34-99C>T Single submitter
- c.*117G>A Single submitter osteogenesis imperfecta type 10
- c.*668A>T Single submitter osteogenesis imperfecta type 10
- p.Ala178= Single submitter
- p.Ala18= Single submitter
- p.Ala29= Single submitter
- p.Ala9= Single submitter
- p.Arg148= Single submitter
- p.Asn174= Single submitter
- p.Asn244= Single submitter
- p.Asn364= Single submitter
- p.Asp104= Single submitter
- p.Asp144Glu Single submitter Inborn genetic diseases
- p.Asp367= Single submitter
- p.Gln56= Single submitter
- p.Gln56Arg Single submitter
- p.Glu312= Single submitter
- p.Gly31= Single submitter
- p.Gly323= Single submitter
- p.Gly404= Single submitter
- p.His238= Single submitter
- p.His273= Single submitter
- p.Ile370= Single submitter
- p.Leu111= Single submitter
- p.Leu114= Single submitter
- p.Leu17= Single submitter
- p.Leu199= Single submitter
- p.Leu324= Single submitter
- p.Leu36= Single submitter
- p.Leu391= Single submitter
- p.Leu50= Single submitter
- p.Leu80= Single submitter
- p.Lys287= Single submitter
- p.Phe10= Single submitter
- p.Phe142= Single submitter
- p.Phe146= Single submitter
- p.Pro186= Single submitter
- p.Pro277= Single submitter
- p.Pro409= Single submitter
- p.Ser119= Single submitter
- p.Ser159= Single submitter
- p.Ser168= Single submitter
- p.Ser172= Single submitter
- p.Ser305= Single submitter
- p.Ser397= Single submitter
- p.Ser82= Single submitter
- p.Thr181= Single submitter
- p.Thr195= Single submitter
- p.Thr286= Single submitter
- p.Thr395= Single submitter
- p.Tyr246= Single submitter
- p.Tyr371= Single submitter
- p.Tyr383= Single submitter
- p.Val21= Single submitter
- p.Val392= Single submitter
- p.Val69Leu Single submitter Inborn genetic diseases
Uncertain significance 158
- c.*536C>A Multiple submitters osteogenesis imperfecta type 10
- p.Ala169Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg239Trp Multiple submitters osteogenesis imperfecta type 10 ⚠
- p.Arg280His Multiple submitters osteogenesis imperfecta type 10 ⚠
- p.Arg393Gln Multiple submitters osteogenesis imperfecta type 10 ⚠
- p.Arg393Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg408Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg408Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn162Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp191Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp412Glu Multiple submitters ⚠
- p.Glu193_Arg194delinsAspSer Multiple submitters
- p.Glu193Asp Multiple submitters ⚠
- p.Glu276Ala Multiple submitters ⚠
- p.Glu417Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly112= Multiple submitters osteogenesis imperfecta type 10
- p.Ile403Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys35Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys410Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met340Ile Multiple submitters osteogenesis imperfecta type 10 ⚠
- p.Met340Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro259Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro277Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser91Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val107Met Multiple submitters Inborn genetic diseases ⚠
- p.Val219Met Multiple submitters ⚠
- p.Val275Met Multiple submitters osteogenesis imperfecta type 10
- p.Val351Met Multiple submitters Inborn genetic diseases ⚠
- c.623-3C>T Single submitter
- c.-185T>C Single submitter osteogenesis imperfecta type 10
- c.-191A>G Single submitter osteogenesis imperfecta type 10
- c.-211G>A Single submitter osteogenesis imperfecta type 10
- c.*153G>A Single submitter osteogenesis imperfecta type 10
- c.*179A>G Single submitter osteogenesis imperfecta type 10
- c.*228A>G Single submitter osteogenesis imperfecta type 10
- c.*354G>T Single submitter osteogenesis imperfecta type 10
- c.*511G>A Single submitter osteogenesis imperfecta type 10
- c.*531C>G Single submitter osteogenesis imperfecta type 10
- c.*556G>A Single submitter osteogenesis imperfecta type 10
- c.*668A>G Single submitter osteogenesis imperfecta type 10
- c.*73G>T Single submitter osteogenesis imperfecta type 10
- c.*74G>A Single submitter osteogenesis imperfecta type 10
- p.Ala109Gly Single submitter Inborn genetic diseases ⚠
- p.Ala123Ser Single submitter ⚠
- p.Ala123Val Single submitter Inborn genetic diseases ⚠
- p.Ala16Ser Single submitter ⚠
- p.Ala19Thr Single submitter ⚠
- p.Ala25Thr Single submitter Inborn genetic diseases ⚠
- p.Ala25Val Single submitter Inborn genetic diseases ⚠
- p.Ala261Thr Single submitter Inborn genetic diseases ⚠
- p.Ala356Thr Single submitter ⚠
- p.Ala40Val Single submitter osteogenesis imperfecta type 10 ⚠
- p.Ala44Gly Single submitter ⚠
- p.Ala44Thr Single submitter Inborn genetic diseases ⚠
- p.Ala57Thr Single submitter ⚠
- p.Ala59Thr Single submitter Inborn genetic diseases ⚠
- p.Ala63Thr Single submitter Inborn genetic diseases ⚠
- p.Ala99Gly Single submitter Inborn genetic diseases ⚠
- p.Arg103Cys Single submitter ⚠
- p.Arg103His Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg124Cys Single submitter osteogenesis imperfecta ⚠
- p.Arg148His Single submitter Inborn genetic diseases ⚠
- p.Arg167Cys Single submitter
- p.Arg167Ser Single submitter
- p.Arg222Cys Single submitter ⚠
- p.Arg228Gln Single submitter Inborn genetic diseases ⚠
- p.Arg239Gln Single submitter Inborn genetic diseases ⚠
- p.Arg239Leu Single submitter ⚠
- p.Arg339Cys Single submitter ⚠
- p.Arg339His Single submitter osteogenesis imperfecta type 10 ⚠
- p.Arg373His Single submitter ⚠
- p.Arg377His Single submitter Inborn genetic diseases ⚠
- p.Arg405Leu Single submitter ⚠
- p.Arg405Pro Single submitter Inborn genetic diseases ⚠
- p.Arg415Gln Single submitter osteogenesis imperfecta type 10 ⚠
- p.Arg415Ter Single submitter
- p.Asn125Lys Single submitter ⚠
- p.Asn174Lys Single submitter ⚠
- p.Asn221Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn244Ser Single submitter Inborn genetic diseases ⚠
- p.Asp191Asn Single submitter Inborn genetic diseases ⚠
- p.Asp211Asn Single submitter ⚠
- p.Asp220Asn Single submitter ⚠
- p.Asp247Asn Single submitter ⚠
- p.Asp248Asn Single submitter Inborn genetic diseases ⚠
- p.Asp345Ala Single submitter Inborn genetic diseases ⚠
- p.Asp385Asn Single submitter ⚠
- p.Gln152Arg Single submitter ⚠
- p.Gln254Glu Single submitter Inborn genetic diseases ⚠
- p.Glu113Asp Single submitter osteogenesis imperfecta type 10 ⚠
- p.Glu113Lys Single submitter Inborn genetic diseases ⚠
- p.Glu157Gln Single submitter Inborn genetic diseases ⚠
- p.Glu20Lys Single submitter osteogenesis imperfecta type 10 ⚠
- p.Glu249Asp Single submitter ⚠
- p.Glu249fs Single submitter
- p.Glu249Lys Single submitter Inborn genetic diseases ⚠
- p.Glu251Lys Single submitter Inborn genetic diseases
- p.Glu257Asp Single submitter ⚠
- p.Glu279Gln Single submitter Inborn genetic diseases ⚠
- p.Glu34Lys Single submitter ⚠
- p.Glu45Lys Single submitter ⚠
- p.Gly183Arg Single submitter ⚠
- p.Gly183Ser Single submitter ⚠
- p.Gly233Cys Single submitter ⚠
- p.Gly309Val Single submitter Inborn genetic diseases ⚠
- p.Gly323Arg Single submitter ⚠
- p.Gly372Arg Single submitter ⚠
- p.His238Tyr Single submitter ⚠
- p.His262Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile269= Single submitter osteogenesis imperfecta type 10
- p.Ile304Val Single submitter Inborn genetic diseases ⚠
- p.Ile389Thr Single submitter ⚠
- p.Ile403Val Single submitter ⚠
- p.Leu102Gln Single submitter ⚠
- p.Leu115Gln Single submitter Inborn genetic diseases ⚠
- p.Leu118Pro Single submitter Inborn genetic diseases ⚠
- p.Leu260Pro Single submitter ⚠
- p.Leu260Val Single submitter Inborn genetic diseases
- p.Leu348= Single submitter osteogenesis imperfecta type 10
- p.Leu401Val Single submitter ⚠
- p.Lys160Arg Single submitter Inborn genetic diseases ⚠
- p.Lys160Asn Single submitter osteogenesis imperfecta type 10 ⚠
- p.Lys263Arg Single submitter ⚠
- p.Lys308Arg Single submitter Inborn genetic diseases ⚠
- p.Lys332Asn Single submitter ⚠
- p.Lys343Glu Single submitter
- p.Lys380Arg Single submitter Inborn genetic diseases ⚠
- p.Met1Thr Single submitter
- p.Met236Thr Single submitter ⚠
- p.Met258Ile Single submitter ⚠
- p.Met297Val Single submitter
- p.Met414Thr Single submitter Inborn genetic diseases
- p.Phe142Leu Single submitter Inborn genetic diseases ⚠
- p.Phe214Leu Single submitter ⚠
- p.Pro137Ala Single submitter Inborn genetic diseases ⚠
- p.Pro365Thr Single submitter Inborn genetic diseases ⚠
- p.Ser159_Lys160insAsnCysGluHisSer Single submitter
- p.Ser350Thr Single submitter Inborn genetic diseases ⚠
- p.Ser397Arg Single submitter Inborn genetic diseases ⚠
- p.Ser47Gly Single submitter osteogenesis imperfecta type 10 ⚠
- p.Ser47Ile Single submitter
- p.Ser76Trp Single submitter ⚠
- p.Ser98_Leu102del Single submitter
- p.Thr122Met Single submitter ⚠
- p.Thr231Ile Single submitter ⚠
- p.Thr32Ala Single submitter ⚠
- p.Thr32Ile Single submitter ⚠
- p.Thr395Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr371Asn Single submitter ⚠
- p.Val140Gly Single submitter ⚠
- p.Val147Met Single submitter
- p.Val232Met Single submitter Inborn genetic diseases ⚠
- p.Val72Met Single submitter Inborn genetic diseases
- p.Val74Glu Single submitter Inborn genetic diseases ⚠
- p.Ala29_Ala33dup No assertion criteria
- p.Arg405His No assertion criteria osteogenesis imperfecta type 10 ⚠
- p.Gly183Cys No assertion criteria ⚠