CRTAP — 674 ClinVar variants
All ClinVar germline CRTAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →
40 Pathogenic · 8 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 23 Conflicting · 49 Benign · 1 Benign/Likely benign · 241 Likely benign · 297 Uncertain significance
Full CRTAP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 180
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CRTAP p.Asp349Gly
Likely pathogenic
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Lys157Arg
Pathogenic
Single submitter
osteogenesis imperfecta type 7
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CRTAP p.Gly219Ser
Conflicting
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Leu151Pro
Conflicting
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Leu151Val
Conflicting
Single submitter
osteogenesis imperfecta
-
CRTAP p.Leu347Phe
Conflicting
Single submitter
osteogenesis imperfecta
-
CRTAP p.Lys149Arg
Conflicting
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Lys254Arg
Conflicting
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Ser56Asn
Conflicting
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Val268Ile
Conflicting
Single submitter
osteogenesis imperfecta type 7
Predictors lean, ClinVar uncertain 112
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CRTAP p.Ala23Val
Uncertain significance
Multiple submitters
osteogenesis imperfecta
-
CRTAP p.Ala245Thr
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Ala26Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Ala318Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Ala97Pro
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Arg121Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Arg30Ser
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Arg5Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Arg78His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Arg86Pro
Uncertain significance
Multiple submitters
osteogenesis imperfecta
-
CRTAP p.Asp235Asn
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Asp79His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Gln326Glu
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Glu195Lys
Uncertain significance
Multiple submitters
osteogenesis imperfecta
-
CRTAP p.Glu248Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Glu252Asp
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Gly7Ala
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Gly7Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Leu172Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Leu173Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Lys204Thr
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Met380Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Phe256Cys
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Pro289Leu
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Pro356Arg
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Ser320Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Thr344Ala
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Tyr103Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Tyr321Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Tyr48Cys
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Tyr48Phe
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Val284Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Ala101Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Ala10Val
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Ala158Gly
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Ala167Thr
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Ala186Thr
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
- CRTAP p.Ala304Asp Uncertain significance Single submitter
-
CRTAP p.Ala8Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Arg212Gln
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg215Gln
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg25Ser
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg30Cys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg38Pro
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg72Leu
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Asn184Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Asn87Ser
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Asp178Glu
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Asp79Tyr
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Cys118Arg
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Cys118Tyr
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Cys19Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Cys243Tyr
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Gln124Arg
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Gln131Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Gln143His
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Gln302Lys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Gln326Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Glu146Asp
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Glu377Lys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Glu389Asp
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Glu398Lys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Glu58Gly
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Glu95Gln
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Gly111Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Gly57Asp
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Gly57Ser
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Gly65Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.His299Arg
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.His59Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Ile275Met
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Ile379Val
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Leu11Pro
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Leu151Arg
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Leu173Val
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Leu21Arg
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
- CRTAP p.Leu308Trp Uncertain significance Single submitter
-
CRTAP p.Leu371Pro
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Leu52Pro
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Lys123Arg
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Lys157Gln
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
- CRTAP p.Lys157Glu Uncertain significance Single submitter
-
CRTAP p.Lys182Gln
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Lys189Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Lys254Glu
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Lys257Gln
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Lys329Arg
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
- CRTAP p.Lys369Arg Uncertain significance Single submitter
-
CRTAP p.Lys54Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Met229Leu
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Met297Val
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Phe362Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Pro134Thr
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Pro176His
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Pro3Gln
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Pro94Ser
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Ser56Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Thr227Ile
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Thr344Asn
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Tyr148Ser
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Tyr187Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Tyr241Asp
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Tyr28Cys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Tyr298Asp
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Tyr31Cys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Tyr372Cys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Tyr55His
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Val138Met
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Val290Gly
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Val319Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Val330Ile
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
- CRTAP p.Val364Met Uncertain significance Single submitter
Predictors split 58
The independent predictors disagree with each other — read with care.
-
CRTAP p.Ala166Thr
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Ala91Pro
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Arg130Cys
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Arg34Leu
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Asn87Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Asp310Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Asp53His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Glu179Lys
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Glu29Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Gly111Cys
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Gly125Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Gly24Arg
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Leu44Pro
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Lys204Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Met229Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Met42Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Phe109Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Phe33Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Ser32Gly
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Ser56Arg
Uncertain significance
Multiple submitters
osteogenesis imperfecta type 7
-
CRTAP p.Ser80Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Ser89Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRTAP p.Ala128Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CRTAP p.Ala245Pro Uncertain significance Single submitter
-
CRTAP p.Ala98Val
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg115Gly
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg115His
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg144Cys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg34Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Arg355Lys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg49Pro
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Arg75His
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Asp177Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Asp228Glu
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Asp79Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Gln152His
Conflicting
Single submitter
osteogenesis imperfecta type 7
- CRTAP p.Gln333His Uncertain significance Single submitter
-
CRTAP p.Glu146Lys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Glu207Asp
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Glu242Lys
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Glu384Gly
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Gly125Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Ile198Thr
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Ile226Asn
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Ile285Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CRTAP p.Met180Ile Uncertain significance Single submitter
-
CRTAP p.Met181Thr
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Met297Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Phe129Leu
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Phe129Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Phe153Leu
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
- CRTAP p.Phe240Ser Uncertain significance Single submitter
-
CRTAP p.Pro127Gln
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Ser190Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRTAP p.Val17Glu
Uncertain significance
Single submitter
osteogenesis imperfecta type 7
-
CRTAP p.Val387Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CRTAP p.His74Leu Uncertain significance No assertion criteria
-
CRTAP p.Val64Leu
Uncertain significance
No assertion criteria
CRTAP-related disorder
All CRTAP variants
Pathogenic 40
- p.Ala10fs Multiple submitters osteogenesis imperfecta type 7
- p.Arg6_Gly7insTer Multiple submitters osteogenesis imperfecta type 7
- p.Gln276Ter Multiple submitters osteogenesis imperfecta type 7
- p.His59fs Multiple submitters osteogenesis imperfecta type 7
- p.Lys274fs Multiple submitters osteogenesis imperfecta type 7
- p.Ser135fs Multiple submitters osteogenesis imperfecta type 7
- p.Tyr66Ter Multiple submitters osteogenesis imperfecta
- c.1153-3C>G Single submitter osteogenesis imperfecta type 7
- c.923-2A>G Single submitter osteogenesis imperfecta type 7
- p.Ala167fs Single submitter osteogenesis imperfecta type 7
- p.Ala213fs Single submitter osteogenesis imperfecta type 7
- p.Arg136fs Single submitter osteogenesis imperfecta type 7
- p.Asn334fs Single submitter osteogenesis imperfecta type 7
- p.Asp53fs Single submitter osteogenesis imperfecta type 7
- p.Cys19fs Single submitter osteogenesis imperfecta
- p.Cys19Ter Single submitter osteogenesis imperfecta type 7
- p.Gln124Ter Single submitter osteogenesis imperfecta type 7
- p.Gln143Ter Single submitter osteogenesis imperfecta type 7
- p.Gln302Ter Single submitter osteogenesis imperfecta type 7
- p.Gln326Ter Single submitter osteogenesis imperfecta type 7
- p.Gln333Ter Single submitter osteogenesis imperfecta type 7
- p.Glu137Ter Single submitter osteogenesis imperfecta type 7
- p.Glu146Ter Single submitter osteogenesis imperfecta type 7
- p.Glu179Ter Single submitter osteogenesis imperfecta type 7
- p.Glu40Ter Single submitter osteogenesis imperfecta type 7
- p.Glu58Ter Single submitter osteogenesis imperfecta type 7
- p.Gly111fs Single submitter osteogenesis imperfecta type 7
- p.Gly99fs Single submitter osteogenesis imperfecta type 7
- p.Leu21fs Single submitter osteogenesis imperfecta type 7
- p.Lys149Ter Single submitter osteogenesis imperfecta type 7
- p.Lys157Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.Lys254fs Single submitter osteogenesis imperfecta type 7
- p.Met1Thr Single submitter osteogenesis imperfecta type 7
- p.Thr296_Met297insGlnTer Single submitter osteogenesis imperfecta type 7
- p.Trp60Ter Single submitter osteogenesis imperfecta type 7
- c.471+1G>C No assertion criteria osteogenesis imperfecta type 7
- p.Ala8fs No assertion criteria
- p.Glu40fs No assertion criteria osteogenesis imperfecta type 7
- p.Phe293fs No assertion criteria osteogenesis imperfecta type 7
- p.Tyr187Ter No assertion criteria osteogenesis imperfecta type 7
Pathogenic/Likely pathogenic 8
- c.471+2C>A Multiple submitters osteogenesis imperfecta
- p.Ala97fs Multiple submitters osteogenesis imperfecta type 7
- p.Ala9fs Multiple submitters osteogenesis imperfecta type 7
- p.Arg107fs Multiple submitters osteogenesis imperfecta type 7
- p.Arg212Ter Multiple submitters osteogenesis imperfecta type 7
- p.Leu244fs Multiple submitters osteogenesis imperfecta type 7
- p.Tyr148Ter Multiple submitters osteogenesis imperfecta type 7
- p.Tyr340Ter Multiple submitters osteogenesis imperfecta type 7
Likely pathogenic 15
- c.1068+1G>T Single submitter osteogenesis imperfecta type 7
- c.472-1021C>G Single submitter CRTAP-related disorder
- c.473_621+1del Single submitter
- c.794-1G>C Single submitter osteogenesis imperfecta type 7
- c.794-2A>G Single submitter osteogenesis imperfecta type 7
- p.Ala20fs Single submitter osteogenesis imperfecta type 7
- p.Ala318fs Single submitter osteogenesis imperfecta type 7
- p.Asp349Gly Single submitter osteogenesis imperfecta type 7 ⚠
- p.Gln27fs Single submitter osteogenesis imperfecta type 7
- p.Glu230Ter Single submitter osteogenesis imperfecta type 7
- p.Lys157Ter Single submitter osteogenesis imperfecta type 7
- p.Phe142fs Single submitter osteogenesis imperfecta type 7
- p.Tyr298Ter Single submitter
- p.Tyr340fs Single submitter osteogenesis imperfecta type 7
- c.471+2C>G No assertion criteria osteogenesis imperfecta type 7
Conflicting classifications of pathogenicity 23
- c.1068+11T>C Single submitter osteogenesis imperfecta type 7
- c.1153-8T>C Single submitter osteogenesis imperfecta type 7
- c.471+2C>T Single submitter osteogenesis imperfecta type 7
- c.471+4A>G Single submitter osteogenesis imperfecta type 7
- c.-101G>C Single submitter osteogenesis imperfecta type 7
- c.-35C>T Single submitter osteogenesis imperfecta type 7
- p.Asn218= Single submitter osteogenesis imperfecta type 7
- p.Asp310= Single submitter osteogenesis imperfecta type 7
- p.Gln152His Single submitter osteogenesis imperfecta type 7 ⚠
- p.Gly219Ser Single submitter osteogenesis imperfecta type 7 ⚠
- p.Leu126= Single submitter osteogenesis imperfecta type 7
- p.Leu151Pro Single submitter osteogenesis imperfecta type 7 ⚠
- p.Leu151Val Single submitter osteogenesis imperfecta ⚠
- p.Leu244= Single submitter osteogenesis imperfecta
- p.Leu335= Single submitter osteogenesis imperfecta type 7
- p.Leu347Phe Single submitter osteogenesis imperfecta ⚠
- p.Lys149Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.Lys254Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.Pro176= Single submitter osteogenesis imperfecta type 7
- p.Pro234= Single submitter osteogenesis imperfecta
- p.Pro94= Single submitter osteogenesis imperfecta
- p.Ser56Asn Single submitter osteogenesis imperfecta type 7 ⚠
- p.Val268Ile Single submitter osteogenesis imperfecta type 7 ⚠
Benign 49
- c.1152+36C>A Multiple submitters osteogenesis imperfecta type 7
- c.1152+97A>G Multiple submitters
- c.471+156T>C Multiple submitters
- c.472-107A>G Multiple submitters
- c.472-136C>A Multiple submitters
- c.472-91A>G Multiple submitters
- c.922+100A>G Multiple submitters
- c.-185T>C Multiple submitters
- c.*1467G>A Multiple submitters osteogenesis imperfecta type 7
- c.*1582C>A Multiple submitters osteogenesis imperfecta type 7
- c.*1858T>A Multiple submitters osteogenesis imperfecta type 7
- c.*2147A>G Multiple submitters osteogenesis imperfecta type 7
- c.*2416T>C Multiple submitters osteogenesis imperfecta type 7
- c.*269C>T Multiple submitters osteogenesis imperfecta type 7
- c.*2901G>C Multiple submitters osteogenesis imperfecta type 7
- c.*3142G>A Multiple submitters osteogenesis imperfecta type 7
- c.*3485G>A Multiple submitters osteogenesis imperfecta type 7
- c.*3793C>T Multiple submitters osteogenesis imperfecta type 7
- c.*3891C>T Multiple submitters osteogenesis imperfecta type 7
- c.*3949C>T Multiple submitters osteogenesis imperfecta type 7
- c.*4256A>G Multiple submitters osteogenesis imperfecta type 7
- p.Ala186= Multiple submitters osteogenesis imperfecta
- p.Asp178= Multiple submitters osteogenesis imperfecta type 7
- p.Leu71= Multiple submitters osteogenesis imperfecta type 7
- p.Ser348= Multiple submitters osteogenesis imperfecta type 7
- p.Thr344= Multiple submitters osteogenesis imperfecta type 7
- p.Val214Ala Multiple submitters osteogenesis imperfecta
- c.1068+303A>G Single submitter
- c.1068+305_1068+306insA Single submitter
- c.1069-246C>A Single submitter
- c.471+295A>G Single submitter
- c.472-683A>C Single submitter
- c.472-821_472-819del Single submitter
- c.472-837dup Single submitter
- c.472-839_472-837dup Single submitter
- c.621+264A>C Single submitter
- c.793+285T>C Single submitter
- c.794-291C>T Single submitter
- c.*1919A>G Single submitter osteogenesis imperfecta type 7
- c.*2628G>A Single submitter osteogenesis imperfecta type 7
- c.*3005G>A Single submitter osteogenesis imperfecta type 7
- c.*3145A>G Single submitter osteogenesis imperfecta type 7
- c.*3243A>C Single submitter osteogenesis imperfecta type 7
- c.*3464A>C Single submitter osteogenesis imperfecta type 7
- c.*4623A>C Single submitter osteogenesis imperfecta type 7
- c.*4774C>T Single submitter osteogenesis imperfecta type 7
- c.*777C>A Single submitter osteogenesis imperfecta type 7
- c.*982A>G Single submitter osteogenesis imperfecta type 7
- p.Ser208Asn Single submitter osteogenesis imperfecta type 7
Benign/Likely benign 1
- c.622-16T>C Multiple submitters osteogenesis imperfecta type 7
Likely benign 241
- c.471+7C>T Multiple submitters osteogenesis imperfecta type 7
- c.621+98T>C Multiple submitters
- c.793+16A>G Multiple submitters osteogenesis imperfecta type 7
- c.793+17T>A Multiple submitters osteogenesis imperfecta type 7
- c.794-14_794-13del Multiple submitters osteogenesis imperfecta type 7
- c.*2474T>G Multiple submitters osteogenesis imperfecta type 7
- c.*288C>T Multiple submitters osteogenesis imperfecta type 7
- c.*7G>A Multiple submitters
- p.Ala166= Multiple submitters osteogenesis imperfecta type 7
- p.Ala318= Multiple submitters osteogenesis imperfecta type 7
- p.Arg212= Multiple submitters osteogenesis imperfecta type 7
- p.Arg6= Multiple submitters osteogenesis imperfecta type 7
- p.Asp177= Multiple submitters osteogenesis imperfecta type 7
- p.Leu139= Multiple submitters osteogenesis imperfecta type 7
- p.Leu394= Multiple submitters osteogenesis imperfecta type 7
- p.Leu41= Multiple submitters osteogenesis imperfecta type 7
- p.Lys376= Multiple submitters osteogenesis imperfecta type 7
- p.Phe83= Multiple submitters osteogenesis imperfecta type 7
- p.Thr203= Multiple submitters osteogenesis imperfecta type 7
- c.1068+13C>T Single submitter osteogenesis imperfecta type 7
- c.1068+14A>C Single submitter osteogenesis imperfecta type 7
- c.1068+14A>T Single submitter osteogenesis imperfecta type 7
- c.1068+15C>T Single submitter osteogenesis imperfecta type 7
- c.1068+161T>C Single submitter
- c.1068+17A>G Single submitter osteogenesis imperfecta type 7
- c.1068+18C>T Single submitter osteogenesis imperfecta type 7
- c.1069-10G>T Single submitter osteogenesis imperfecta type 7
- c.1069-12G>T Single submitter osteogenesis imperfecta type 7
- c.1069-202A>G Single submitter
- c.1069-5A>G Single submitter osteogenesis imperfecta type 7
- c.1069-8_1069-5del Single submitter osteogenesis imperfecta type 7
- c.1152+10del Single submitter osteogenesis imperfecta type 7
- c.1152+12T>A Single submitter osteogenesis imperfecta type 7
- c.1153-9C>G Single submitter osteogenesis imperfecta type 7
- c.471+11C>T Single submitter osteogenesis imperfecta type 7
- c.471+127G>T Single submitter
- c.471+12T>G Single submitter osteogenesis imperfecta type 7
- c.471+13C>T Single submitter osteogenesis imperfecta type 7
- c.471+14G>A Single submitter osteogenesis imperfecta type 7
- c.471+14G>T Single submitter osteogenesis imperfecta type 7
- c.471+16C>T Single submitter osteogenesis imperfecta type 7
- c.471+17C>A Single submitter osteogenesis imperfecta type 7
- c.471+18C>A Single submitter osteogenesis imperfecta type 7
- c.471+18C>G Single submitter osteogenesis imperfecta type 7
- c.471+18C>T Single submitter osteogenesis imperfecta type 7
- c.471+19G>T Single submitter osteogenesis imperfecta type 7
- c.471+254C>T Single submitter
- c.471+8C>T Single submitter osteogenesis imperfecta type 7
- c.471+9G>C Single submitter osteogenesis imperfecta type 7
- c.471+9G>T Single submitter osteogenesis imperfecta type 7
- c.472-1010G>A Single submitter
- c.472-1021C>T Single submitter osteogenesis imperfecta type 7
- c.472-1033A>C Single submitter
- c.472-10G>T Single submitter osteogenesis imperfecta type 7
- c.472-12T>G Single submitter osteogenesis imperfecta type 7
- c.472-13T>C Single submitter osteogenesis imperfecta type 7
- c.472-17G>A Single submitter osteogenesis imperfecta type 7
- c.472-257G>A Single submitter
- c.472-4T>G Single submitter osteogenesis imperfecta type 7
- c.472-7C>A Single submitter osteogenesis imperfecta type 7
- c.621+10G>A Single submitter osteogenesis imperfecta type 7
- c.621+15T>G Single submitter osteogenesis imperfecta type 7
- c.621+17A>G Single submitter osteogenesis imperfecta type 7
- c.621+188G>A Single submitter
- c.621+314C>G Single submitter
- c.621+7T>G Single submitter osteogenesis imperfecta type 7
- c.621+8T>C Single submitter osteogenesis imperfecta type 7
- c.622-11A>G Single submitter osteogenesis imperfecta type 7
- c.622-15C>A Single submitter osteogenesis imperfecta type 7
- c.622-18C>T Single submitter osteogenesis imperfecta type 7
- c.622-280T>C Single submitter
- c.622-7C>A Single submitter osteogenesis imperfecta type 7
- c.622-81G>A Single submitter
- c.622-9G>A Single submitter osteogenesis imperfecta type 7
- c.793+11G>A Single submitter osteogenesis imperfecta type 7
- c.793+12G>C Single submitter osteogenesis imperfecta type 7
- c.793+17T>C Single submitter osteogenesis imperfecta type 7
- c.793+19G>A Single submitter osteogenesis imperfecta type 7
- c.793+7G>A Single submitter osteogenesis imperfecta type 7
- c.794-12G>T Single submitter osteogenesis imperfecta type 7
- c.794-14A>G Single submitter osteogenesis imperfecta type 7
- c.794-16A>G Single submitter osteogenesis imperfecta type 7
- c.794-18T>G Single submitter osteogenesis imperfecta type 7
- c.794-19T>C Single submitter osteogenesis imperfecta type 7
- c.794-240A>G Single submitter
- c.922+12T>C Single submitter osteogenesis imperfecta type 7
- c.922+14del Single submitter osteogenesis imperfecta type 7
- c.922+15G>A Single submitter osteogenesis imperfecta type 7
- c.922+17G>A Single submitter osteogenesis imperfecta type 7
- c.922+18A>G Single submitter osteogenesis imperfecta type 7
- c.922+8A>G Single submitter osteogenesis imperfecta type 7
- c.923-10C>T Single submitter osteogenesis imperfecta type 7
- c.923-14C>T Single submitter osteogenesis imperfecta type 7
- c.923-171G>A Single submitter
- c.923-18T>G Single submitter osteogenesis imperfecta type 7
- c.923-19C>T Single submitter osteogenesis imperfecta type 7
- c.923-4C>G Single submitter osteogenesis imperfecta type 7
- c.-39C>G Single submitter
- c.-45T>G Single submitter
- c.*1041C>T Single submitter osteogenesis imperfecta type 7
- c.*1124C>A Single submitter osteogenesis imperfecta type 7
- c.*1861A>G Single submitter osteogenesis imperfecta type 7
- c.*2524G>A Single submitter osteogenesis imperfecta type 7
- c.*2876C>T Single submitter osteogenesis imperfecta type 7
- c.*2943A>G Single submitter osteogenesis imperfecta type 7
- c.*31C>T Single submitter osteogenesis imperfecta type 7
- c.*3454C>T Single submitter osteogenesis imperfecta type 7
- c.*3950G>A Single submitter osteogenesis imperfecta type 7
- c.*4017G>A Single submitter osteogenesis imperfecta type 7
- c.*4129T>C Single submitter osteogenesis imperfecta type 7
- c.*4705G>T Single submitter osteogenesis imperfecta type 7
- p.Ala101= Single submitter osteogenesis imperfecta type 7
- p.Ala116= Single submitter osteogenesis imperfecta type 7
- p.Ala13= Single submitter osteogenesis imperfecta type 7
- p.Ala140= Single submitter osteogenesis imperfecta type 7
- p.Ala164= Single submitter osteogenesis imperfecta type 7
- p.Ala194= Single submitter osteogenesis imperfecta type 7
- p.Ala216= Single submitter osteogenesis imperfecta type 7
- p.Ala315= Single submitter osteogenesis imperfecta type 7
- p.Ala47= Single submitter osteogenesis imperfecta type 7
- p.Ala61= Single submitter osteogenesis imperfecta type 7
- p.Ala8= Single submitter osteogenesis imperfecta type 7
- p.Ala82= Single submitter osteogenesis imperfecta type 7
- p.Ala9= Single submitter osteogenesis imperfecta type 7
- p.Ala90= Single submitter osteogenesis imperfecta type 7
- p.Ala97= Single submitter osteogenesis imperfecta type 7
- p.Arg107= Single submitter osteogenesis imperfecta type 7
- p.Arg121= Single submitter osteogenesis imperfecta type 7
- p.Arg145= Single submitter osteogenesis imperfecta type 7
- p.Arg183= Single submitter osteogenesis imperfecta type 7
- p.Arg215= Single submitter osteogenesis imperfecta type 7
- p.Arg223= Single submitter osteogenesis imperfecta type 7
- p.Arg25= Single submitter osteogenesis imperfecta type 7
- p.Arg251= Single submitter osteogenesis imperfecta type 7
- p.Arg30= Single submitter osteogenesis imperfecta type 7
- p.Arg38= Single submitter osteogenesis imperfecta type 7
- p.Arg72= Single submitter osteogenesis imperfecta type 7
- p.Arg78= Single submitter osteogenesis imperfecta type 7
- p.Asn159= Single submitter osteogenesis imperfecta type 7
- p.Asn160= Single submitter osteogenesis imperfecta type 7
- p.Asn184= Single submitter osteogenesis imperfecta type 7
- p.Asn309= Single submitter osteogenesis imperfecta type 7
- p.Asp141= Single submitter osteogenesis imperfecta type 7
- p.Asp325= Single submitter osteogenesis imperfecta type 7
- p.Asp79= Single submitter osteogenesis imperfecta type 7
- p.Cys247= Single submitter osteogenesis imperfecta type 7
- p.Cys84= Single submitter osteogenesis imperfecta type 7
- p.Gln124= Single submitter osteogenesis imperfecta type 7
- p.Gln143= Single submitter osteogenesis imperfecta type 7
- p.Gln27= Single submitter osteogenesis imperfecta type 7
- p.Gln353= Single submitter osteogenesis imperfecta type 7
- p.Gln93= Single submitter osteogenesis imperfecta type 7
- p.Glu195= Single submitter osteogenesis imperfecta type 7
- p.Glu2= Single submitter osteogenesis imperfecta type 7
- p.Glu242= Single submitter osteogenesis imperfecta type 7
- p.Glu248= Single submitter osteogenesis imperfecta type 7
- p.Glu252= Single submitter osteogenesis imperfecta type 7
- p.Glu269= Single submitter osteogenesis imperfecta type 7
- p.Glu279= Single submitter osteogenesis imperfecta type 7
- p.Glu399= Single submitter osteogenesis imperfecta type 7
- p.Glu68= Single submitter osteogenesis imperfecta type 7
- p.Gly110= Single submitter osteogenesis imperfecta type 7
- p.Gly125= Single submitter osteogenesis imperfecta type 7
- p.Gly219= Single submitter osteogenesis imperfecta type 7
- p.Gly24= Single submitter osteogenesis imperfecta type 7
- p.Gly385= Single submitter osteogenesis imperfecta type 7
- p.Gly65= Single submitter osteogenesis imperfecta type 7
- p.Gly7= Single submitter osteogenesis imperfecta type 7
- p.His117= Single submitter osteogenesis imperfecta type 7
- p.His341= Single submitter osteogenesis imperfecta type 7
- p.His50= Single submitter osteogenesis imperfecta type 7
- p.His74= Single submitter osteogenesis imperfecta type 7
- p.His85= Single submitter osteogenesis imperfecta type 7
- p.Ile165= Single submitter osteogenesis imperfecta type 7
- p.Ile211= Single submitter osteogenesis imperfecta type 7
- p.Ile253= Single submitter osteogenesis imperfecta type 7
- p.Ile285= Single submitter osteogenesis imperfecta type 7
- p.Ile69= Single submitter osteogenesis imperfecta type 7
- p.Leu106= Single submitter osteogenesis imperfecta type 7
- p.Leu108= Single submitter osteogenesis imperfecta type 7
- p.Leu11= Single submitter osteogenesis imperfecta type 7
- p.Leu113= Single submitter osteogenesis imperfecta type 7
- p.Leu119= Single submitter osteogenesis imperfecta type 7
- p.Leu12= Single submitter osteogenesis imperfecta type 7
- p.Leu151= Single submitter osteogenesis imperfecta type 7
- p.Leu172= Single submitter osteogenesis imperfecta type 7
- p.Leu201= Single submitter osteogenesis imperfecta type 7
- p.Leu209= Single submitter osteogenesis imperfecta type 7
- p.Leu261= Single submitter osteogenesis imperfecta type 7
- p.Leu271= Single submitter osteogenesis imperfecta type 7
- p.Leu323= Single submitter osteogenesis imperfecta type 7
- p.Leu371= Single submitter osteogenesis imperfecta type 7
- p.Leu44= Single submitter osteogenesis imperfecta type 7
- p.Leu52= Single submitter osteogenesis imperfecta type 7
- p.Leu67= Single submitter osteogenesis imperfecta type 7
- p.Leu73= Single submitter osteogenesis imperfecta type 7
- p.Leu76= Single submitter osteogenesis imperfecta type 7
- p.Leu77= Single submitter osteogenesis imperfecta type 7
- p.Lys120= Single submitter osteogenesis imperfecta type 7
- p.Lys123= Single submitter osteogenesis imperfecta type 7
- p.Lys149= Single submitter osteogenesis imperfecta type 7
- p.Lys54= Single submitter osteogenesis imperfecta type 7
- p.Phe150= Single submitter osteogenesis imperfecta type 7
- p.Phe153= Single submitter osteogenesis imperfecta type 7
- p.Phe171= Single submitter osteogenesis imperfecta type 7
- p.Phe240= Single submitter osteogenesis imperfecta type 7
- p.Phe303= Single submitter osteogenesis imperfecta type 7
- p.Phe33= Single submitter osteogenesis imperfecta type 7
- p.Phe36= Single submitter osteogenesis imperfecta type 7
- p.Pro104= Single submitter osteogenesis imperfecta type 7
- p.Pro134= Single submitter osteogenesis imperfecta type 7
- p.Pro147= Single submitter osteogenesis imperfecta type 7
- p.Pro162= Single submitter osteogenesis imperfecta type 7
- p.Pro289= Single submitter osteogenesis imperfecta type 7
- p.Pro3= Single submitter osteogenesis imperfecta type 7
- p.Pro37= Single submitter osteogenesis imperfecta type 7
- p.Pro43= Single submitter osteogenesis imperfecta type 7
- p.Pro92= Single submitter osteogenesis imperfecta type 7
- p.Pro96= Single submitter osteogenesis imperfecta type 7
- p.Ser132= Single submitter osteogenesis imperfecta type 7
- p.Ser190= Single submitter osteogenesis imperfecta type 7
- p.Ser208= Single submitter osteogenesis imperfecta type 7
- p.Ser32= Single submitter osteogenesis imperfecta type 7
- p.Ser35= Single submitter osteogenesis imperfecta type 7
- p.Ser56= Single submitter osteogenesis imperfecta type 7
- p.Ser63= Single submitter osteogenesis imperfecta type 7
- p.Ser70= Single submitter osteogenesis imperfecta type 7
- p.Thr224= Single submitter osteogenesis imperfecta type 7
- p.Thr296= Single submitter osteogenesis imperfecta type 7
- p.Thr365= Single submitter osteogenesis imperfecta type 7
- p.Thr400= Single submitter osteogenesis imperfecta type 7
- p.Tyr148= Single submitter osteogenesis imperfecta type 7
- p.Tyr197= Single submitter osteogenesis imperfecta type 7
- p.Tyr241= Single submitter osteogenesis imperfecta type 7
- p.Tyr300= Single submitter osteogenesis imperfecta type 7
- p.Tyr306= Single submitter osteogenesis imperfecta type 7
- p.Tyr31= Single submitter osteogenesis imperfecta type 7
- p.Val268= Single submitter osteogenesis imperfecta type 7
- p.Val336= Single submitter osteogenesis imperfecta type 7
- p.Val64= Single submitter osteogenesis imperfecta type 7
- c.472-1011C>T No assertion criteria CRTAP-related disorder
Uncertain significance 297
- c.*3221C>T Multiple submitters osteogenesis imperfecta type 7
- c.*703A>T Multiple submitters osteogenesis imperfecta type 7
- p.Ala166Thr Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Ala23Val Multiple submitters osteogenesis imperfecta ⚠
- p.Ala245Thr Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Ala26Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala318Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala91Pro Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Ala97Pro Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Arg121Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg130Cys Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Arg30Ser Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Arg34Leu Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Arg5Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg78His Multiple submitters Inborn genetic diseases ⚠
- p.Arg86Pro Multiple submitters osteogenesis imperfecta ⚠
- p.Asn87Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp235Asn Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Asp310Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp53His Multiple submitters Inborn genetic diseases ⚠
- p.Asp79His Multiple submitters Inborn genetic diseases ⚠
- p.Gln326Glu Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Glu179Lys Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Glu195Lys Multiple submitters osteogenesis imperfecta ⚠
- p.Glu248Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu252Asp Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Glu29Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly111Cys Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Gly125Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly24Arg Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Gly7Ala Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Gly7Arg Multiple submitters Inborn genetic diseases ⚠
- p.His341Arg Multiple submitters osteogenesis imperfecta
- p.Leu172Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu173Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu301_Gln302del Multiple submitters osteogenesis imperfecta type 7
- p.Leu44Pro Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Lys204Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys204Thr Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Met229Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met380Val Multiple submitters Inborn genetic diseases ⚠
- p.Met42Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe109Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe256Cys Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Phe33Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro289Leu Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Pro356Arg Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Ser320Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser32Gly Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Ser56Arg Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Ser80Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser89Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr344Ala Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Tyr103Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr321Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr48Cys Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Tyr48Phe Multiple submitters osteogenesis imperfecta type 7 ⚠
- p.Val284Ala Multiple submitters Inborn genetic diseases ⚠
- c.1068+12G>A Single submitter osteogenesis imperfecta type 7
- c.1153-3C>T Single submitter osteogenesis imperfecta type 7
- c.471+8C>G Single submitter osteogenesis imperfecta type 7
- c.622-3C>G Single submitter osteogenesis imperfecta type 7
- c.793+12G>T Single submitter osteogenesis imperfecta type 7
- c.793+1897C>T Single submitter osteogenesis imperfecta type 7
- c.794-3C>T Single submitter osteogenesis imperfecta type 7
- c.923-3T>C Single submitter
- c.-119G>A Single submitter osteogenesis imperfecta type 7
- c.-3G>A Single submitter
- c.-83G>A Single submitter osteogenesis imperfecta type 7
- c.*1071G>T Single submitter osteogenesis imperfecta type 7
- c.*1181A>T Single submitter osteogenesis imperfecta type 7
- c.*1193A>G Single submitter osteogenesis imperfecta type 7
- c.*1254C>A Single submitter osteogenesis imperfecta type 7
- c.*1361G>A Single submitter osteogenesis imperfecta type 7
- c.*1397G>A Single submitter osteogenesis imperfecta type 7
- c.*1431C>T Single submitter osteogenesis imperfecta type 7
- c.*1460C>T Single submitter osteogenesis imperfecta type 7
- c.*1564A>G Single submitter osteogenesis imperfecta type 7
- c.*1606C>G Single submitter osteogenesis imperfecta type 7
- c.*1608A>G Single submitter osteogenesis imperfecta type 7
- c.*1614G>A Single submitter osteogenesis imperfecta type 7
- c.*1637G>C Single submitter osteogenesis imperfecta type 7
- c.*1853A>G Single submitter osteogenesis imperfecta type 7
- c.*2071A>G Single submitter osteogenesis imperfecta type 7
- c.*2113A>G Single submitter osteogenesis imperfecta type 7
- c.*2129A>G Single submitter osteogenesis imperfecta type 7
- c.*2146C>A Single submitter osteogenesis imperfecta type 7
- c.*2146C>T Single submitter osteogenesis imperfecta type 7
- c.*2218C>T Single submitter osteogenesis imperfecta type 7
- c.*2242A>C Single submitter osteogenesis imperfecta type 7
- c.*225G>C Single submitter osteogenesis imperfecta type 7
- c.*2302G>A Single submitter osteogenesis imperfecta type 7
- c.*238G>A Single submitter osteogenesis imperfecta type 7
- c.*2431G>A Single submitter osteogenesis imperfecta type 7
- c.*2435T>G Single submitter osteogenesis imperfecta type 7
- c.*2456T>G Single submitter osteogenesis imperfecta type 7
- c.*2585G>C Single submitter osteogenesis imperfecta type 7
- c.*2674A>G Single submitter osteogenesis imperfecta type 7
- c.*2679G>A Single submitter osteogenesis imperfecta type 7
- c.*2687C>T Single submitter osteogenesis imperfecta type 7
- c.*2693C>T Single submitter osteogenesis imperfecta type 7
- c.*2829C>G Single submitter osteogenesis imperfecta type 7
- c.*2837G>T Single submitter osteogenesis imperfecta type 7
- c.*293G>A Single submitter osteogenesis imperfecta type 7
- c.*2956G>A Single submitter osteogenesis imperfecta type 7
- c.*2968G>A Single submitter osteogenesis imperfecta type 7
- c.*2976C>T Single submitter osteogenesis imperfecta type 7
- c.*3012G>A Single submitter osteogenesis imperfecta type 7
- c.*3061C>G Single submitter osteogenesis imperfecta type 7
- c.*3110G>C Single submitter osteogenesis imperfecta type 7
- c.*3113G>A Single submitter osteogenesis imperfecta type 7
- c.*3124G>A Single submitter osteogenesis imperfecta type 7
- c.*3224T>C Single submitter osteogenesis imperfecta type 7
- c.*3332G>T Single submitter osteogenesis imperfecta type 7
- c.*348A>G Single submitter osteogenesis imperfecta type 7
- c.*3511G>C Single submitter osteogenesis imperfecta type 7
- c.*3588A>G Single submitter osteogenesis imperfecta type 7
- c.*3710T>C Single submitter osteogenesis imperfecta type 7
- c.*3720C>A Single submitter osteogenesis imperfecta type 7
- c.*3731C>T Single submitter osteogenesis imperfecta type 7
- c.*3788G>A Single submitter osteogenesis imperfecta type 7
- c.*3891C>A Single submitter osteogenesis imperfecta type 7
- c.*3978T>C Single submitter osteogenesis imperfecta type 7
- c.*4099A>G Single submitter osteogenesis imperfecta type 7
- c.*4124G>A Single submitter osteogenesis imperfecta type 7
- c.*4124G>T Single submitter osteogenesis imperfecta type 7
- c.*4190C>T Single submitter osteogenesis imperfecta type 7
- c.*422T>C Single submitter osteogenesis imperfecta type 7
- c.*4422C>G Single submitter osteogenesis imperfecta type 7
- c.*4427A>G Single submitter osteogenesis imperfecta type 7
- c.*4459C>A Single submitter osteogenesis imperfecta type 7
- c.*4568C>T Single submitter osteogenesis imperfecta type 7
- c.*4592T>C Single submitter osteogenesis imperfecta type 7
- c.*4601T>C Single submitter osteogenesis imperfecta type 7
- c.*4647T>A Single submitter osteogenesis imperfecta type 7
- c.*4691T>C Single submitter osteogenesis imperfecta type 7
- c.*4705G>A Single submitter osteogenesis imperfecta type 7
- c.*4786G>C Single submitter osteogenesis imperfecta type 7
- c.*4809A>G Single submitter osteogenesis imperfecta type 7
- c.*4836T>C Single submitter osteogenesis imperfecta type 7
- c.*4844C>T Single submitter osteogenesis imperfecta type 7
- c.*4857A>C Single submitter osteogenesis imperfecta type 7
- c.*4940G>C Single submitter osteogenesis imperfecta type 7
- c.*4950A>G Single submitter osteogenesis imperfecta type 7
- c.*496A>G Single submitter osteogenesis imperfecta type 7
- c.*4994C>T Single submitter osteogenesis imperfecta type 7
- c.*5005G>T Single submitter osteogenesis imperfecta type 7
- c.*501C>T Single submitter osteogenesis imperfecta type 7
- c.*5048G>A Single submitter osteogenesis imperfecta type 7
- c.*5054A>G Single submitter osteogenesis imperfecta type 7
- c.*5077A>G Single submitter osteogenesis imperfecta type 7
- c.*50C>G Single submitter osteogenesis imperfecta type 7
- c.*5134T>C Single submitter osteogenesis imperfecta type 7
- c.*5183C>A Single submitter osteogenesis imperfecta type 7
- c.*5190G>T Single submitter osteogenesis imperfecta type 7
- c.*5195C>A Single submitter osteogenesis imperfecta type 7
- c.*5223T>A Single submitter osteogenesis imperfecta type 7
- c.*526G>C Single submitter osteogenesis imperfecta type 7
- c.*5313T>G Single submitter osteogenesis imperfecta type 7
- c.*539C>G Single submitter osteogenesis imperfecta type 7
- c.*608G>A Single submitter osteogenesis imperfecta type 7
- c.*670G>A Single submitter osteogenesis imperfecta type 7
- c.*69G>T Single submitter osteogenesis imperfecta type 7
- c.*712A>T Single submitter osteogenesis imperfecta type 7
- c.*865C>G Single submitter osteogenesis imperfecta type 7
- c.*910T>C Single submitter osteogenesis imperfecta type 7
- c.*991C>T Single submitter osteogenesis imperfecta type 7
- p.Ala101Thr Single submitter Inborn genetic diseases ⚠
- p.Ala10Val Single submitter osteogenesis imperfecta type 7 ⚠
- p.Ala128Pro Single submitter Inborn genetic diseases ⚠
- p.Ala158Gly Single submitter osteogenesis imperfecta type 7 ⚠
- p.Ala167Thr Single submitter osteogenesis imperfecta type 7 ⚠
- p.Ala186Thr Single submitter osteogenesis imperfecta type 7 ⚠
- p.Ala245Pro Single submitter ⚠
- p.Ala304Asp Single submitter ⚠
- p.Ala47Thr Single submitter Inborn genetic diseases
- p.Ala8Ser Single submitter Inborn genetic diseases ⚠
- p.Ala98Val Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg114_Arg115insLeuPheGlyGlyLeuLeuArg Single submitter osteogenesis imperfecta type 7
- p.Arg114Cys Single submitter osteogenesis imperfecta type 7
- p.Arg115Gly Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg115His Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg144Cys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg212Gln Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg215Gln Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg215Trp Single submitter osteogenesis imperfecta type 7
- p.Arg251Gly Single submitter osteogenesis imperfecta type 7
- p.Arg25Ser Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg30Cys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg34_Phe36dup Single submitter osteogenesis imperfecta type 7
- p.Arg34Cys Single submitter Inborn genetic diseases ⚠
- p.Arg355Lys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg38Pro Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg49Pro Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg72Leu Single submitter osteogenesis imperfecta type 7 ⚠
- p.Arg75His Single submitter osteogenesis imperfecta type 7 ⚠
- p.Asn184Ser Single submitter Inborn genetic diseases ⚠
- p.Asn87Ser Single submitter osteogenesis imperfecta type 7 ⚠
- p.Asp177Ala Single submitter Inborn genetic diseases ⚠
- p.Asp178Glu Single submitter osteogenesis imperfecta type 7 ⚠
- p.Asp228Glu Single submitter osteogenesis imperfecta type 7 ⚠
- p.Asp381fs Single submitter osteogenesis imperfecta type 7
- p.Asp39Tyr Single submitter osteogenesis imperfecta type 7
- p.Asp79Asn Single submitter Inborn genetic diseases ⚠
- p.Asp79Tyr Single submitter osteogenesis imperfecta type 7 ⚠
- p.Cys118Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.Cys118Leu Single submitter osteogenesis imperfecta type 7
- p.Cys118Tyr Single submitter osteogenesis imperfecta type 7 ⚠
- p.Cys19Ser Single submitter Inborn genetic diseases ⚠
- p.Cys243Tyr Single submitter osteogenesis imperfecta type 7 ⚠
- p.Gln124Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.Gln131Glu Single submitter Inborn genetic diseases ⚠
- p.Gln143His Single submitter osteogenesis imperfecta type 7 ⚠
- p.Gln302Lys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Gln326Lys Single submitter Inborn genetic diseases ⚠
- p.Gln333His Single submitter ⚠
- p.Glu146Asp Single submitter osteogenesis imperfecta type 7 ⚠
- p.Glu146Lys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Glu207Asp Single submitter osteogenesis imperfecta type 7 ⚠
- p.Glu242Lys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Glu377Lys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Glu384Gly Single submitter osteogenesis imperfecta type 7 ⚠
- p.Glu389Asp Single submitter osteogenesis imperfecta type 7 ⚠
- p.Glu398Lys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Glu58Gly Single submitter osteogenesis imperfecta type 7 ⚠
- p.Glu95Gln Single submitter osteogenesis imperfecta type 7 ⚠
- p.Gly110Val Single submitter osteogenesis imperfecta type 7
- p.Gly111Ser Single submitter Inborn genetic diseases ⚠
- p.Gly125Asp Single submitter Inborn genetic diseases ⚠
- p.Gly57Asp Single submitter osteogenesis imperfecta type 7 ⚠
- p.Gly57Ser Single submitter osteogenesis imperfecta type 7 ⚠
- p.Gly65Asp Single submitter Inborn genetic diseases ⚠
- p.His299Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.His59Arg Single submitter Inborn genetic diseases ⚠
- p.Ile198Thr Single submitter osteogenesis imperfecta type 7 ⚠
- p.Ile226Asn Single submitter osteogenesis imperfecta type 7 ⚠
- p.Ile275Met Single submitter osteogenesis imperfecta type 7 ⚠
- p.Ile285Met Single submitter Inborn genetic diseases ⚠
- p.Ile379Val Single submitter osteogenesis imperfecta type 7 ⚠
- p.Leu11Pro Single submitter osteogenesis imperfecta type 7 ⚠
- p.Leu151Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.Leu173Val Single submitter osteogenesis imperfecta type 7 ⚠
- p.Leu201Arg Single submitter osteogenesis imperfecta type 7
- p.Leu21Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.Leu308Trp Single submitter ⚠
- p.Leu371Pro Single submitter osteogenesis imperfecta type 7 ⚠
- p.Leu52Pro Single submitter osteogenesis imperfecta type 7 ⚠
- p.Lys123Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.Lys157Gln Single submitter osteogenesis imperfecta type 7 ⚠
- p.Lys157Glu Single submitter ⚠
- p.Lys182Gln Single submitter osteogenesis imperfecta type 7 ⚠
- p.Lys189Glu Single submitter Inborn genetic diseases ⚠
- p.Lys254Glu Single submitter osteogenesis imperfecta type 7 ⚠
- p.Lys257Gln Single submitter osteogenesis imperfecta type 7 ⚠
- p.Lys329Arg Single submitter osteogenesis imperfecta type 7 ⚠
- p.Lys369Arg Single submitter ⚠
- p.Lys54Asn Single submitter Inborn genetic diseases ⚠
- p.Met180Ile Single submitter ⚠
- p.Met181Thr Single submitter osteogenesis imperfecta type 7 ⚠
- p.Met229Leu Single submitter osteogenesis imperfecta type 7 ⚠
- p.Met297Thr Single submitter Inborn genetic diseases ⚠
- p.Met297Val Single submitter osteogenesis imperfecta type 7 ⚠
- p.Phe129Leu Single submitter osteogenesis imperfecta type 7 ⚠
- p.Phe129Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe153Leu Single submitter osteogenesis imperfecta type 7 ⚠
- p.Phe240Ser Single submitter ⚠
- p.Phe362Ser Single submitter Inborn genetic diseases ⚠
- p.Pro127Gln Single submitter osteogenesis imperfecta type 7 ⚠
- p.Pro134Thr Single submitter osteogenesis imperfecta type 7 ⚠
- p.Pro176His Single submitter osteogenesis imperfecta type 7 ⚠
- p.Pro3Gln Single submitter osteogenesis imperfecta type 7 ⚠
- p.Pro94Ser Single submitter osteogenesis imperfecta type 7 ⚠
- p.Ser190Arg Single submitter Inborn genetic diseases ⚠
- p.Ser35Thr Single submitter osteogenesis imperfecta type 7
- p.Ser56Gly Single submitter Inborn genetic diseases ⚠
- p.Thr227Ile Single submitter osteogenesis imperfecta type 7 ⚠
- p.Thr344Asn Single submitter osteogenesis imperfecta type 7 ⚠
- p.Thr400delinsGluThrLysLeuTer Single submitter
- p.Tyr148Ser Single submitter osteogenesis imperfecta type 7 ⚠
- p.Tyr187Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr241Asp Single submitter osteogenesis imperfecta type 7 ⚠
- p.Tyr28Cys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Tyr298Asp Single submitter osteogenesis imperfecta type 7 ⚠
- p.Tyr31Cys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Tyr372Cys Single submitter osteogenesis imperfecta type 7 ⚠
- p.Tyr55His Single submitter osteogenesis imperfecta type 7 ⚠
- p.Tyr66Asp Single submitter osteogenesis imperfecta type 7
- p.Val138Met Single submitter osteogenesis imperfecta type 7 ⚠
- p.Val17Glu Single submitter osteogenesis imperfecta type 7 ⚠
- p.Val290Gly Single submitter osteogenesis imperfecta type 7 ⚠
- p.Val319Ala Single submitter Inborn genetic diseases ⚠
- p.Val330Ile Single submitter osteogenesis imperfecta type 7 ⚠
- p.Val364Met Single submitter ⚠
- p.Val387Leu Single submitter Inborn genetic diseases ⚠
- c.1152+5G>C No assertion criteria osteogenesis imperfecta type 7
- p.His74Leu No assertion criteria ⚠
- p.Val64Leu No assertion criteria CRTAP-related disorder ⚠