GSAP — 113 ClinVar variants
All ClinVar germline GSAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
2 Benign · 13 Likely benign · 98 Uncertain significance
Full GSAP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GSAP p.Ala185Val Uncertain significance Single submitter
- GSAP p.Ala429Thr Uncertain significance Single submitter
- GSAP p.Ala433Thr Uncertain significance Single submitter
- GSAP p.Ala457Asp Uncertain significance Single submitter
- GSAP p.Ala510Ser Uncertain significance Single submitter
- GSAP p.Ala510Thr Uncertain significance Single submitter
- GSAP p.Ala7Thr Uncertain significance Single submitter
- GSAP p.Arg181Cys Uncertain significance Single submitter
- GSAP p.Arg204Lys Uncertain significance Single submitter
- GSAP p.Arg230Met Uncertain significance Single submitter
- GSAP p.Arg4Cys Uncertain significance Single submitter
- GSAP p.Arg564Thr Uncertain significance Single submitter
- GSAP p.Arg604Trp Uncertain significance Single submitter
- GSAP p.Arg668Cys Uncertain significance Single submitter
- GSAP p.Arg778Gln Uncertain significance Single submitter
- GSAP p.Arg778Trp Uncertain significance Single submitter
- GSAP p.Arg793Gln Uncertain significance Single submitter
- GSAP p.Asn138His Uncertain significance Single submitter
- GSAP p.Asn544Ser Uncertain significance Single submitter
- GSAP p.Asp203Asn Uncertain significance Single submitter
- GSAP p.Asp208Gly Uncertain significance Single submitter
- GSAP p.Asp616Glu Uncertain significance Single submitter
- GSAP p.Asp616Tyr Uncertain significance Single submitter
- GSAP p.Asp818Gly Uncertain significance Single submitter
- GSAP p.Asp833Glu Uncertain significance Single submitter
- GSAP p.Cys385Phe Uncertain significance Single submitter
- GSAP p.Gln110Arg Uncertain significance Single submitter
- GSAP p.Gln306Arg Uncertain significance Single submitter
- GSAP p.Gln786Arg Uncertain significance Single submitter
- GSAP p.Glu100Asp Uncertain significance Single submitter
- GSAP p.Glu119Lys Uncertain significance Single submitter
- GSAP p.Glu159Asp Uncertain significance Single submitter
- GSAP p.Glu27Gln Uncertain significance Single submitter
- GSAP p.Glu377Gly Uncertain significance Single submitter
- GSAP p.Glu425Asp Uncertain significance Single submitter
- GSAP p.Glu838Gln Uncertain significance Single submitter
- GSAP p.Gly12Arg Uncertain significance Single submitter
- GSAP p.Gly374Ala Uncertain significance Single submitter
- GSAP p.Gly437Arg Uncertain significance Single submitter
- GSAP p.Gly66Arg Uncertain significance Single submitter
- GSAP p.His167Arg Uncertain significance Single submitter
- GSAP p.His183Arg Uncertain significance Single submitter
- GSAP p.His183Asp Uncertain significance Single submitter
- GSAP p.His199Tyr Uncertain significance Single submitter
- GSAP p.His368Tyr Uncertain significance Single submitter
- GSAP p.His539Tyr Uncertain significance Single submitter
- GSAP p.His832Arg Uncertain significance Single submitter
- GSAP p.Ile648Phe Uncertain significance Single submitter
- GSAP p.Ile683Val Uncertain significance Single submitter
- GSAP p.Ile819Thr Uncertain significance Single submitter
- GSAP p.Leu103Phe Uncertain significance Single submitter
- GSAP p.Leu326Val Uncertain significance Single submitter
- GSAP p.Leu784Val Uncertain significance Single submitter
- GSAP p.Leu90Phe Uncertain significance Single submitter
- GSAP p.Lys113Glu Uncertain significance Single submitter
- GSAP p.Lys279Arg Uncertain significance Single submitter
- GSAP p.Lys279Glu Uncertain significance Single submitter
- GSAP p.Lys316Glu Uncertain significance Single submitter
- GSAP p.Lys537Arg Uncertain significance Single submitter
- GSAP p.Lys62Glu Uncertain significance Single submitter
- GSAP p.Lys88Thr Uncertain significance Single submitter
- GSAP p.Pro594Ser Uncertain significance Single submitter
- GSAP p.Ser255Pro Uncertain significance Single submitter
- GSAP p.Ser278Cys Uncertain significance Single submitter
- GSAP p.Ser29Asn Uncertain significance Single submitter
- GSAP p.Ser389Leu Uncertain significance Single submitter
- GSAP p.Ser411Leu Uncertain significance Single submitter
- GSAP p.Ser490Ala Uncertain significance Single submitter
- GSAP p.Ser803Gly Uncertain significance Single submitter
- GSAP p.Thr782Arg Uncertain significance Single submitter
- GSAP p.Tyr297His Uncertain significance Single submitter
- GSAP p.Tyr542Cys Uncertain significance Single submitter
- GSAP p.Tyr73Phe Uncertain significance Single submitter
- GSAP p.Val131Ile Uncertain significance Single submitter
- GSAP p.Val184Ile Uncertain significance Single submitter
- GSAP p.Val192Met Uncertain significance Single submitter
- GSAP p.Val210Ile Uncertain significance Single submitter
- GSAP p.Val210Leu Uncertain significance Single submitter
- GSAP p.Val264Leu Uncertain significance Single submitter
- GSAP p.Val395Ile Uncertain significance Single submitter
- GSAP p.Val505Ala Uncertain significance Single submitter
- GSAP p.Val569Met Uncertain significance Single submitter
- GSAP p.Val723Met Uncertain significance Single submitter
- GSAP p.Val731Ala Uncertain significance Single submitter
- GSAP p.Val781Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- GSAP p.Asn544Lys Uncertain significance Single submitter
- GSAP p.Glu178Lys Uncertain significance Single submitter
- GSAP p.Gly853Val Uncertain significance Single submitter
- GSAP p.Ile224Thr Uncertain significance Single submitter
- GSAP p.Lys143Gln Uncertain significance Single submitter
- GSAP p.Phe677Leu Uncertain significance Single submitter
- GSAP p.Phe749Leu Uncertain significance Single submitter
- GSAP p.Pro135Ser Uncertain significance Single submitter
- GSAP p.Ser292Arg Uncertain significance Single submitter
- GSAP p.Ser490Phe Uncertain significance Single submitter
- GSAP p.Trp653Arg Uncertain significance Single submitter
- GSAP p.Val141Phe Uncertain significance Single submitter
All GSAP variants
Benign 2
- p.Pro756Thr Multiple submitters
- c.577-13_577-11del Single submitter
Likely benign 13
- p.Ala429Val Single submitter
- p.Ala433Val Single submitter
- p.Arg783Gln Single submitter
- p.Asp203Glu Single submitter
- p.Cys718Tyr Single submitter
- p.Gln438Arg Single submitter
- p.Gln708His Single submitter
- p.His318Tyr Single submitter
- p.Ile254Val Single submitter
- p.Ile732Thr Single submitter
- p.Met796Val Single submitter
- p.Ser545Ile Single submitter
- p.Trp661Cys Single submitter
Uncertain significance 98
- p.Ala185Val Single submitter ⚠
- p.Ala429Thr Single submitter ⚠
- p.Ala433Thr Single submitter ⚠
- p.Ala457Asp Single submitter ⚠
- p.Ala510Ser Single submitter ⚠
- p.Ala510Thr Single submitter ⚠
- p.Ala7Thr Single submitter ⚠
- p.Arg181Cys Single submitter ⚠
- p.Arg204Lys Single submitter ⚠
- p.Arg230Met Single submitter ⚠
- p.Arg4Cys Single submitter ⚠
- p.Arg564Thr Single submitter ⚠
- p.Arg604Trp Single submitter ⚠
- p.Arg668Cys Single submitter ⚠
- p.Arg778Gln Single submitter ⚠
- p.Arg778Trp Single submitter ⚠
- p.Arg793Gln Single submitter ⚠
- p.Asn138His Single submitter ⚠
- p.Asn544Lys Single submitter ⚠
- p.Asn544Ser Single submitter ⚠
- p.Asp203Asn Single submitter ⚠
- p.Asp208Gly Single submitter ⚠
- p.Asp616Glu Single submitter ⚠
- p.Asp616Tyr Single submitter ⚠
- p.Asp818Gly Single submitter ⚠
- p.Asp833Glu Single submitter ⚠
- p.Cys385Phe Single submitter ⚠
- p.Gln110Arg Single submitter ⚠
- p.Gln306Arg Single submitter ⚠
- p.Gln786Arg Single submitter ⚠
- p.Glu100Asp Single submitter ⚠
- p.Glu119Lys Single submitter ⚠
- p.Glu159Asp Single submitter ⚠
- p.Glu178Lys Single submitter ⚠
- p.Glu27Gln Single submitter ⚠
- p.Glu377Gly Single submitter ⚠
- p.Glu425Asp Single submitter ⚠
- p.Glu838Gln Single submitter ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly374Ala Single submitter ⚠
- p.Gly437Arg Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.Gly853Val Single submitter ⚠
- p.His167Arg Single submitter ⚠
- p.His183Arg Single submitter ⚠
- p.His183Asp Single submitter ⚠
- p.His199Tyr Single submitter ⚠
- p.His368Tyr Single submitter ⚠
- p.His539Tyr Single submitter ⚠
- p.His832Arg Single submitter ⚠
- p.Ile224Thr Single submitter ⚠
- p.Ile648Phe Single submitter ⚠
- p.Ile683Val Single submitter ⚠
- p.Ile819Thr Single submitter ⚠
- p.Leu103Phe Single submitter ⚠
- p.Leu326Val Single submitter ⚠
- p.Leu784Val Single submitter ⚠
- p.Leu90Phe Single submitter ⚠
- p.Lys113Glu Single submitter ⚠
- p.Lys143Gln Single submitter ⚠
- p.Lys279Arg Single submitter ⚠
- p.Lys279Glu Single submitter ⚠
- p.Lys316Glu Single submitter ⚠
- p.Lys537Arg Single submitter ⚠
- p.Lys62Glu Single submitter ⚠
- p.Lys88Thr Single submitter ⚠
- p.Phe677Leu Single submitter ⚠
- p.Phe749Leu Single submitter ⚠
- p.Pro135Ser Single submitter ⚠
- p.Pro594Ser Single submitter ⚠
- p.Ser255Pro Single submitter ⚠
- p.Ser278Cys Single submitter ⚠
- p.Ser292Arg Single submitter ⚠
- p.Ser29Asn Single submitter ⚠
- p.Ser389Leu Single submitter ⚠
- p.Ser411Leu Single submitter ⚠
- p.Ser490Ala Single submitter ⚠
- p.Ser490Phe Single submitter ⚠
- p.Ser803Gly Single submitter ⚠
- p.Thr782Arg Single submitter ⚠
- p.Trp653Arg Single submitter ⚠
- p.Tyr297His Single submitter ⚠
- p.Tyr542Cys Single submitter ⚠
- p.Tyr73Phe Single submitter ⚠
- p.Val131Ile Single submitter ⚠
- p.Val141Phe Single submitter ⚠
- p.Val184Ile Single submitter ⚠
- p.Val192Met Single submitter ⚠
- p.Val210Ile Single submitter ⚠
- p.Val210Leu Single submitter ⚠
- p.Val264Asp Single submitter
- p.Val264Leu Single submitter ⚠
- p.Val395Ile Single submitter ⚠
- p.Val505Ala Single submitter ⚠
- p.Val569Met Single submitter ⚠
- p.Val723Met Single submitter ⚠
- p.Val731Ala Single submitter ⚠
- p.Val781Met Single submitter ⚠