CRIPTO — 67 ClinVar variants
All ClinVar germline CRIPTO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
16 Benign · 21 Likely benign · 30 Uncertain significance
Full CRIPTO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CRIPTO p.Arg171His Uncertain significance Single submitter
- CRIPTO p.Arg38His Uncertain significance Single submitter
- CRIPTO p.Arg60Gln Uncertain significance Single submitter
- CRIPTO p.Arg62Pro Uncertain significance Single submitter
- CRIPTO p.Arg8Gly Uncertain significance Single submitter
- CRIPTO p.Asp48Asn Uncertain significance Single submitter
- CRIPTO p.Cys82Arg Uncertain significance Single submitter
- CRIPTO p.Glu55Lys Uncertain significance Single submitter
- CRIPTO p.Gly103Arg Uncertain significance Single submitter
- CRIPTO p.Gly151Ala Uncertain significance Single submitter
- CRIPTO p.Gly151Asp Uncertain significance Single submitter
- CRIPTO p.Gly42Arg Uncertain significance Single submitter
- CRIPTO p.Gly86Trp Uncertain significance Single submitter
- CRIPTO p.Leu44Pro Uncertain significance Single submitter
- CRIPTO p.Met154Val Uncertain significance Single submitter
-
CRIPTO p.Pro39Thr
Uncertain significance
Single submitter
CRIPTO-related disorder
- CRIPTO p.Ser12Arg Uncertain significance Single submitter
- CRIPTO p.Trp15Cys Uncertain significance Single submitter
- CRIPTO p.Tyr188Cys Uncertain significance Single submitter
- CRIPTO p.His120Gln Uncertain significance No assertion criteria
Predictors split 12
The independent predictors disagree with each other — read with care.
- CRIPTO p.Arg111Gly Benign Multiple submitters
- CRIPTO p.Arg111His Uncertain significance Single submitter
- CRIPTO p.Arg38Cys Uncertain significance Single submitter
- CRIPTO p.Arg8His Uncertain significance Single submitter
- CRIPTO p.Asp109His Likely benign Single submitter
- CRIPTO p.Gln143Arg Uncertain significance Single submitter
- CRIPTO p.Met90Arg Uncertain significance Single submitter
- CRIPTO p.Phe9Leu Uncertain significance Single submitter
- CRIPTO p.Pro142Leu Uncertain significance Single submitter
- CRIPTO p.Pro98Ala Uncertain significance Single submitter
- CRIPTO p.Ser129Phe Uncertain significance Single submitter
-
CRIPTO p.Pro125Leu
Uncertain significance
No assertion criteria
Forebrain defects
All CRIPTO variants
Benign 16
- c.339-8A>G Multiple submitters
- p.Arg111Gly Multiple submitters ⚠
- c.223+43T>A Single submitter
- c.224-106A>T Single submitter
- c.224-14T>C Single submitter
- c.35+38C>T Single submitter
- c.36-311T>A Single submitter
- c.449-165G>A Single submitter
- c.-13-1347T>A Single submitter
- c.-13-1825A>C Single submitter
- c.*277del Single submitter
- p.Glu56= Single submitter
- p.Gly151= Single submitter
- p.Pro98= Single submitter
- p.Tyr43Asp Single submitter
- p.Val22Ala Single submitter
Likely benign 21
- c.223+105T>G Single submitter
- c.224-112A>G Single submitter
- c.224-172A>G Single submitter
- c.338+11C>T Single submitter
- c.35+121C>G Single submitter
- c.35+279G>A Single submitter
- c.35+60G>A Single submitter
- c.36-23C>T Single submitter
- c.36-67T>C Single submitter
- c.448+103G>T Single submitter
- c.448+243G>A Single submitter
- c.88+8A>G Single submitter
- c.*206T>A Single submitter
- c.*252C>T Single submitter
- p.Ala144Thr Single submitter
- p.Arg41Gln Single submitter
- p.Asp109His Single submitter ⚠
- p.Gly116= Single submitter
- p.Ile19Phe Single submitter
- p.Leu152= Single submitter
- p.Leu158= Single submitter
Uncertain significance 30
- p.Arg111His Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg38Cys Single submitter ⚠
- p.Arg38His Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg62Pro Single submitter ⚠
- p.Arg8Gly Single submitter ⚠
- p.Arg8His Single submitter ⚠
- p.Asp48Asn Single submitter ⚠
- p.Cys82Arg Single submitter ⚠
- p.Gln143Arg Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.Gly103Arg Single submitter ⚠
- p.Gly151Ala Single submitter ⚠
- p.Gly151Asp Single submitter ⚠
- p.Gly42Arg Single submitter ⚠
- p.Gly86Trp Single submitter ⚠
- p.Leu44Pro Single submitter ⚠
- p.Met154Val Single submitter ⚠
- p.Met90Arg Single submitter ⚠
- p.Phe9Leu Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro39Thr Single submitter CRIPTO-related disorder ⚠
- p.Pro98Ala Single submitter ⚠
- p.Ser129Phe Single submitter ⚠
- p.Ser12Arg Single submitter ⚠
- p.Trp15Cys Single submitter ⚠
- p.Tyr188Cys Single submitter ⚠
- p.His120Gln No assertion criteria ⚠
- p.Pro125Leu No assertion criteria Forebrain defects ⚠