STAP1 — 145 ClinVar variants
All ClinVar germline STAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
1 Likely pathogenic · 14 Benign · 1 Benign/Likely benign · 51 Likely benign · 78 Uncertain significance
Full STAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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STAP1 p.Thr47Ala
Likely pathogenic
Single submitter
hypercholesterolemia, familial, 1
Predictors lean, ClinVar uncertain 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
STAP1 p.Gln192Arg
Uncertain significance
Multiple submitters
STAP1-related disorder
-
STAP1 p.Leu288Val
Uncertain significance
Multiple submitters
STAP1-related disorder
- STAP1 p.Ala295Thr Uncertain significance Single submitter
- STAP1 p.Arg261Gln Uncertain significance Single submitter
- STAP1 p.Arg36Gln Uncertain significance Single submitter
- STAP1 p.Arg40Trp Uncertain significance Single submitter
- STAP1 p.Asn173Ser Uncertain significance Single submitter
- STAP1 p.Asn194Ser Uncertain significance Single submitter
- STAP1 p.Asn263Thr Uncertain significance Single submitter
- STAP1 p.Asn291Thr Uncertain significance Single submitter
- STAP1 p.Cys76Gly Uncertain significance Single submitter
- STAP1 p.Glu145Gly Uncertain significance Single submitter
- STAP1 p.Glu151Asp Uncertain significance Single submitter
- STAP1 p.Glu161Ala Uncertain significance Single submitter
- STAP1 p.Glu161Lys Uncertain significance Single submitter
- STAP1 p.Glu166Asp Uncertain significance Single submitter
- STAP1 p.Glu218Asp Uncertain significance Single submitter
- STAP1 p.Glu286Gln Uncertain significance Single submitter
- STAP1 p.Glu43Gln Uncertain significance Single submitter
- STAP1 p.Gly205Asp Uncertain significance Single submitter
- STAP1 p.Gly38Ala Uncertain significance Single submitter
- STAP1 p.Ile150Thr Uncertain significance Single submitter
- STAP1 p.Ile213Val Uncertain significance Single submitter
- STAP1 p.Ile215Val Uncertain significance Single submitter
- STAP1 p.Ile21Phe Uncertain significance Single submitter
- STAP1 p.Ile268Thr Uncertain significance Single submitter
- STAP1 p.Leu264Val Uncertain significance Single submitter
- STAP1 p.Leu77Ile Uncertain significance Single submitter
- STAP1 p.Lys147Arg Uncertain significance Single submitter
- STAP1 p.Lys162Glu Uncertain significance Single submitter
- STAP1 p.Lys287Asn Uncertain significance Single submitter
- STAP1 p.Lys35Arg Uncertain significance Single submitter
- STAP1 p.Lys5Arg Uncertain significance Single submitter
- STAP1 p.Lys61Arg Uncertain significance Single submitter
- STAP1 p.Met175Val Uncertain significance Single submitter
- STAP1 p.Met230Val Uncertain significance Single submitter
- STAP1 p.Pro174Ser Uncertain significance Single submitter
- STAP1 p.Pro6Leu Uncertain significance Single submitter
- STAP1 p.Pro7Thr Uncertain significance Single submitter
- STAP1 p.Ser155Arg Uncertain significance Single submitter
- STAP1 p.Ser155Ile Uncertain significance Single submitter
- STAP1 p.Ser196Cys Uncertain significance Single submitter
- STAP1 p.Ser285Gly Uncertain significance Single submitter
- STAP1 p.Ser62Cys Uncertain significance Single submitter
- STAP1 p.Thr118Ile Uncertain significance Single submitter
- STAP1 p.Thr152Ile Uncertain significance Single submitter
- STAP1 p.Thr156Met Uncertain significance Single submitter
- STAP1 p.Thr237Ala Uncertain significance Single submitter
- STAP1 p.Thr52Ala Uncertain significance Single submitter
- STAP1 p.Thr53Ile Uncertain significance Single submitter
- STAP1 p.Thr53Pro Uncertain significance Single submitter
- STAP1 p.Thr58Asn Uncertain significance Single submitter
- STAP1 p.Thr58Ile Uncertain significance Single submitter
- STAP1 p.Tyr236Phe Uncertain significance Single submitter
- STAP1 p.Val119Ala Uncertain significance Single submitter
- STAP1 p.Val124Ile Uncertain significance Single submitter
- STAP1 p.Val128Met Uncertain significance Single submitter
- STAP1 p.Val135Ile Uncertain significance Single submitter
- STAP1 p.Val171Leu Uncertain significance Single submitter
- STAP1 p.Val232Leu Uncertain significance Single submitter
- STAP1 p.Ala23Val Uncertain significance No assertion criteria
Predictors split 14
The independent predictors disagree with each other — read with care.
- STAP1 p.Arg12Gly Uncertain significance Single submitter
- STAP1 p.Arg13Ser Uncertain significance Single submitter
- STAP1 p.Arg216Trp Uncertain significance Single submitter
- STAP1 p.Arg36Trp Uncertain significance Single submitter
- STAP1 p.Asn210Lys Uncertain significance Single submitter
- STAP1 p.Asn248Lys Uncertain significance Single submitter
- STAP1 p.Cys178Tyr Uncertain significance Single submitter
- STAP1 p.Glu17Gly Uncertain significance Single submitter
- STAP1 p.Glu241Val Uncertain significance Single submitter
- STAP1 p.Glu29Ala Uncertain significance Single submitter
- STAP1 p.Gly262Arg Uncertain significance Single submitter
- STAP1 p.Lys61Asn Uncertain significance Single submitter
- STAP1 p.Thr103Pro Uncertain significance Single submitter
- STAP1 p.Val141Phe Uncertain significance Single submitter
All STAP1 variants
Likely pathogenic 1
- p.Thr47Ala Single submitter hypercholesterolemia, familial, 1 ⚠
Benign 14
- c.192+10T>C Multiple submitters
- c.530+11A>G Multiple submitters
- c.530+60A>G Multiple submitters
- c.730-41G>C Multiple submitters
- p.Asn127= Multiple submitters
- p.Thr118= Multiple submitters
- c.121-226T>C Single submitter
- c.192+260T>G Single submitter
- c.193-170G>C Single submitter
- c.307-167C>T Single submitter
- c.530+163A>G Single submitter
- c.530+245T>G Single submitter
- c.730-170G>A Single submitter
- p.Met2Thr No assertion criteria STAP1-related disorder
Benign/Likely benign 1
- c.120+6T>C Multiple submitters
Likely benign 51
- c.192+102T>C Multiple submitters
- p.Leu138= Multiple submitters
- c.121-106C>T Single submitter
- c.193-141G>A Single submitter
- c.364-263G>A Single submitter
- c.530+68G>A Single submitter
- c.729+109A>G Single submitter
- p.Ala177= Single submitter
- p.Arg148= Single submitter
- p.Arg36= Single submitter
- p.Arg40Gln Single submitter
- p.Asn274= Single submitter
- p.Asp207= Single submitter
- p.Glu145= Single submitter
- p.Glu153= Single submitter
- p.Glu43Lys Single submitter
- p.Glu48= Single submitter
- p.Glu97= Single submitter
- p.Ile14= Single submitter
- p.Ile150= Single submitter
- p.Ile213= Single submitter
- p.Ile221Met Single submitter
- p.Ile224= Single submitter
- p.Ile34Met Single submitter
- p.Leu19= Single submitter
- p.Leu246= Single submitter
- p.Leu49= Single submitter
- p.Lys137Arg Single submitter
- p.Lys162= Single submitter
- p.Lys193= Single submitter
- p.Lys4= Single submitter
- p.Phe267= Single submitter
- p.Pro6= Single submitter
- p.Ser157= Single submitter
- p.Ser183= Single submitter
- p.Ser231= Single submitter
- p.Ser37= Single submitter
- p.Ser62= Single submitter
- p.Thr103= Single submitter
- p.Thr165Ile Single submitter
- p.Thr181= Single submitter
- p.Thr53= Single submitter
- p.Thr58= Single submitter
- p.Tyr168= Single submitter
- p.Tyr180= Single submitter
- p.Tyr227= Single submitter
- p.Tyr236= Single submitter
- p.Tyr57= Single submitter
- p.Val141= Single submitter
- p.Val232Ile Single submitter
- c.-3G>T No assertion criteria STAP1-related disorder
Uncertain significance 78
- p.Gln192Arg Multiple submitters STAP1-related disorder ⚠
- p.Leu288Val Multiple submitters STAP1-related disorder ⚠
- p.Ala295Thr Single submitter ⚠
- p.Arg12Gly Single submitter ⚠
- p.Arg13Ser Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg261Gln Single submitter ⚠
- p.Arg36Gln Single submitter ⚠
- p.Arg36Trp Single submitter ⚠
- p.Arg40Trp Single submitter ⚠
- p.Asn173Ser Single submitter ⚠
- p.Asn194Ser Single submitter ⚠
- p.Asn210Lys Single submitter ⚠
- p.Asn248Lys Single submitter ⚠
- p.Asn263Thr Single submitter ⚠
- p.Asn291Thr Single submitter ⚠
- p.Cys178Tyr Single submitter ⚠
- p.Cys76Gly Single submitter ⚠
- p.Glu107Gln Single submitter
- p.Glu145Gly Single submitter ⚠
- p.Glu151Asp Single submitter ⚠
- p.Glu161Ala Single submitter ⚠
- p.Glu161Lys Single submitter ⚠
- p.Glu166Asp Single submitter ⚠
- p.Glu17Gly Single submitter ⚠
- p.Glu218Asp Single submitter ⚠
- p.Glu239Lys Single submitter
- p.Glu241Val Single submitter ⚠
- p.Glu286Gln Single submitter ⚠
- p.Glu29Ala Single submitter ⚠
- p.Glu43Gln Single submitter ⚠
- p.Gly205Asp Single submitter ⚠
- p.Gly262Arg Single submitter ⚠
- p.Gly38Ala Single submitter ⚠
- p.Ile150Thr Single submitter ⚠
- p.Ile213Val Single submitter ⚠
- p.Ile215Val Single submitter ⚠
- p.Ile21Phe Single submitter ⚠
- p.Ile268Thr Single submitter ⚠
- p.Leu264Val Single submitter ⚠
- p.Leu77Ile Single submitter ⚠
- p.Lys147Arg Single submitter ⚠
- p.Lys162Glu Single submitter ⚠
- p.Lys287Asn Single submitter ⚠
- p.Lys35Arg Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Lys61Arg Single submitter ⚠
- p.Lys61Asn Single submitter ⚠
- p.Met175Val Single submitter ⚠
- p.Met230Val Single submitter ⚠
- p.Pro174Ser Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Pro7Thr Single submitter ⚠
- p.Ser155Arg Single submitter ⚠
- p.Ser155Ile Single submitter ⚠
- p.Ser196Cys Single submitter ⚠
- p.Ser212Thr Single submitter
- p.Ser285Gly Single submitter ⚠
- p.Ser62Cys Single submitter ⚠
- p.Thr103Pro Single submitter ⚠
- p.Thr118Ile Single submitter ⚠
- p.Thr152Ile Single submitter ⚠
- p.Thr156Met Single submitter ⚠
- p.Thr237Ala Single submitter ⚠
- p.Thr52Ala Single submitter ⚠
- p.Thr53Ile Single submitter ⚠
- p.Thr53Pro Single submitter ⚠
- p.Thr58Asn Single submitter ⚠
- p.Thr58Ile Single submitter ⚠
- p.Tyr236Phe Single submitter ⚠
- p.Val119Ala Single submitter ⚠
- p.Val124Ile Single submitter ⚠
- p.Val128Met Single submitter ⚠
- p.Val135Ile Single submitter ⚠
- p.Val141Phe Single submitter ⚠
- p.Val171Leu Single submitter ⚠
- p.Val232Leu Single submitter ⚠
- p.Ala23Val No assertion criteria ⚠