PASK — 232 ClinVar variants

All ClinVar germline PASK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →

1 Conflicting · 14 Benign · 30 Likely benign · 187 Uncertain significance

Full PASK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 177

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 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PASK p.Thr685Arg Conflicting Single submitter

Predictors lean, ClinVar uncertain 161

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 161

Predictors split 15

The independent predictors disagree with each other — read with care.

All PASK variants

Conflicting classifications of pathogenicity 1

p.Thr685Arg Single submitter ⚠

Benign 14

p.Arg1319His Multiple submitters
p.Arg937His Multiple submitters
p.Gly782Arg Multiple submitters
p.Pro101= Multiple submitters
p.Pro844= Multiple submitters
p.Ser582= Multiple submitters
p.Ser789= Multiple submitters
p.Thr850Met Multiple submitters
p.Tyr899His Multiple submitters
p.Val694Met Multiple submitters
p.Gly1309= Single submitter
p.Leu145= Single submitter
p.Ser239Leu Single submitter
p.Thr858= Single submitter

Likely benign 30

p.Ala324Val Single submitter
p.Ala602Val Single submitter
p.Arg1120His Single submitter
p.Arg1267Gln Single submitter
p.Arg336Trp Single submitter
p.Arg438= Single submitter
p.Arg451Gln Single submitter
p.Arg812Gln Single submitter
p.Asp268= Single submitter
p.Cys859Tyr Single submitter
p.Gln435Glu Single submitter
p.Gln572Arg Single submitter
p.Gln596His Single submitter
p.Gly153Arg Single submitter
p.Gly583Ser Single submitter
p.Gly952Ser Single submitter
p.His1215Asn Single submitter
p.His447= Single submitter
p.His820Leu Single submitter
p.Lys598= Single submitter
p.Phe638Leu Single submitter
p.Pro1182= Single submitter
p.Pro1216= Single submitter
p.Ser695= Single submitter
p.Ser695Leu Single submitter
p.Ser71Phe Single submitter
p.Thr34Ala Single submitter
p.Val332= Single submitter
p.Leu1051Val No assertion criteria PASK-related disorder ⚠
p.Thr763Met No assertion criteria PASK-related disorder

Uncertain significance 187

c.3533+1G>A Multiple submitters chronic kidney disease
p.Ala1092Thr Single submitter ⚠
p.Ala125Thr Single submitter ⚠
p.Ala1278Ser Single submitter ⚠
p.Ala1292Ser Single submitter ⚠
p.Ala1294Val Single submitter ⚠
p.Ala193Ser Single submitter ⚠
p.Ala193Thr Single submitter ⚠
p.Ala194Glu Single submitter ⚠
p.Ala194Val Single submitter ⚠
p.Ala243Ser Single submitter ⚠
p.Ala270Ser Single submitter ⚠
p.Ala30Gly Single submitter ⚠
p.Ala330Thr Single submitter ⚠
p.Ala330Val Single submitter ⚠
p.Ala35Pro Single submitter ⚠
p.Ala365Thr Single submitter
p.Ala395Val Single submitter ⚠
p.Ala544Ser Single submitter ⚠
p.Ala672Val Single submitter ⚠
p.Ala680Thr Single submitter ⚠
p.Ala680Val Single submitter ⚠
p.Ala692Thr Single submitter ⚠
p.Ala882Ser Single submitter ⚠
p.Ala92Pro Single submitter ⚠
p.Ala958Thr Single submitter ⚠
p.Arg1120Cys Single submitter ⚠
p.Arg112Gln Single submitter ⚠
p.Arg112Trp Single submitter ⚠
p.Arg221Gln Single submitter ⚠
p.Arg225Cys Single submitter ⚠
p.Arg336Gln Single submitter ⚠
p.Arg420Gly Single submitter ⚠
p.Arg575Gln Single submitter ⚠
p.Arg575Trp Single submitter ⚠
p.Arg654Gln Single submitter ⚠
p.Arg795Trp Single submitter ⚠
p.Arg811Gln Single submitter ⚠
p.Arg814Trp Single submitter ⚠
p.Arg880His Single submitter ⚠
p.Arg905Trp Single submitter ⚠
p.Arg937Cys Single submitter ⚠
p.Arg944Cys Single submitter ⚠
p.Arg944His Single submitter ⚠
p.Asn1063Ser Single submitter ⚠
p.Asn1201His Single submitter ⚠
p.Asn652Ser Single submitter ⚠
p.Asn81His Single submitter ⚠
p.Asp1069Tyr Single submitter ⚠
p.Asp254His Single submitter ⚠
p.Asp305Gly Single submitter ⚠
p.Asp548Tyr Single submitter ⚠
p.Asp644Gly Single submitter ⚠
p.Asp653Asn Single submitter ⚠
p.Asp676Ala Single submitter ⚠
p.Asp840Asn Single submitter ⚠
p.Asp902Gly Single submitter ⚠
p.Cys687Tyr Single submitter ⚠
p.Gln13Arg Single submitter ⚠
p.Gln13His Single submitter ⚠
p.Gln165Arg Single submitter ⚠
p.Gln426Arg Single submitter ⚠
p.Gln997Arg Single submitter ⚠
p.Glu1060Lys Single submitter ⚠
p.Glu1154Gly Single submitter ⚠
p.Glu1211Lys Single submitter ⚠
p.Glu1305Lys Single submitter ⚠
p.Glu184Gln Single submitter ⚠
p.Glu184Lys Single submitter ⚠
p.Glu233Asp Single submitter ⚠
p.Glu322Lys Single submitter ⚠
p.Glu414Asp Single submitter ⚠
p.Glu834Asp Single submitter ⚠
p.Glu864Asp Single submitter ⚠
p.Glu94Gly Single submitter ⚠
p.Gly1011Ser Single submitter ⚠
p.Gly103Ser Single submitter ⚠
p.Gly1085Asp Single submitter ⚠
p.Gly262Trp Single submitter ⚠
p.Gly301Arg Single submitter ⚠
p.Gly306Asp Single submitter
p.Gly334Ser Single submitter ⚠
p.Gly347Ser Single submitter PASK-related disorder
p.Gly359Ser Single submitter ⚠
p.Gly370Ser Single submitter ⚠
p.Gly372Arg Single submitter ⚠
p.Gly445Ser Single submitter ⚠
p.Gly53Trp Single submitter
p.Gly559Asp Single submitter ⚠
p.Gly604Cys Single submitter ⚠
p.Gly614Glu Single submitter ⚠
p.Gly881Glu Single submitter ⚠
p.Gly952Cys Single submitter ⚠
p.Gly987Glu Single submitter ⚠
p.His1215Tyr Single submitter ⚠
p.His1314Pro Single submitter ⚠
p.His192Tyr Single submitter ⚠
p.His259Tyr Single submitter ⚠
p.His447Tyr Single submitter ⚠
p.His609Arg Single submitter ⚠
p.His835Arg Single submitter ⚠
p.His900Asp Single submitter ⚠
p.His934Gln Single submitter ⚠
p.Ile1145Thr Single submitter ⚠
p.Ile163Thr Single submitter ⚠
p.Ile345Val Single submitter ⚠
p.Leu1104Arg Single submitter ⚠
p.Leu1174Phe Single submitter ⚠
p.Leu1219Val Single submitter ⚠
p.Leu122Val Single submitter ⚠
p.Leu167Phe Single submitter
p.Leu351Phe Single submitter ⚠
p.Leu384Val Single submitter ⚠
p.Leu443Ile Single submitter ⚠
p.Leu826Val Single submitter ⚠
p.Leu933Phe Single submitter ⚠
p.Leu970Phe Single submitter ⚠
p.Lys1023Asn Single submitter ⚠
p.Lys1023Gln Single submitter ⚠
p.Lys1023Glu Single submitter ⚠
p.Lys1031Arg Single submitter ⚠
p.Lys1031Glu Single submitter ⚠
p.Lys379Glu Single submitter
p.Lys598Arg Single submitter ⚠
p.Lys598Asn Single submitter ⚠
p.Met1225Thr Single submitter ⚠
p.Met392Arg Single submitter ⚠
p.Phe309Leu Single submitter ⚠
p.Pro1004Leu Single submitter ⚠
p.Pro101Leu Single submitter ⚠
p.Pro1171Leu Single submitter ⚠
p.Pro1178Leu Single submitter PASK-related disorder
p.Pro1217Ser Single submitter
p.Pro1234Thr Single submitter ⚠
p.Pro212Ser Single submitter ⚠
p.Pro310Ser Single submitter ⚠
p.Pro319Arg Single submitter ⚠
p.Pro353Leu Single submitter ⚠
p.Pro424Leu Single submitter ⚠
p.Pro430Thr Single submitter ⚠
p.Pro450Thr Single submitter ⚠
p.Pro628Leu Single submitter ⚠
p.Pro844Ser Single submitter ⚠
p.Pro860Leu Single submitter ⚠
p.Ser1000Gly Single submitter ⚠
p.Ser1007Thr Single submitter ⚠
p.Ser1149Leu Single submitter ⚠
p.Ser1188Phe Single submitter ⚠
p.Ser1277Cys Single submitter ⚠
p.Ser1287Arg Single submitter ⚠
p.Ser1287Asn Single submitter ⚠
p.Ser19Cys Single submitter ⚠
p.Ser42Phe Single submitter ⚠
p.Ser579Thr Single submitter ⚠
p.Ser582Arg Single submitter ⚠
p.Ser637Thr Single submitter ⚠
p.Ser839Asn Single submitter ⚠
p.Ser873Ala Single submitter ⚠
p.Ser956Pro Single submitter ⚠
p.Thr1195Met Single submitter
p.Thr136Met Single submitter ⚠
p.Thr168Met Single submitter ⚠
p.Thr356Ser Single submitter ⚠
p.Thr374Met Single submitter ⚠
p.Thr755Met Single submitter ⚠
p.Thr803Pro Single submitter ⚠
p.Thr84Pro Single submitter ⚠
p.Thr858Met Single submitter ⚠
p.Thr872Ile Single submitter
p.Thr96Met Single submitter ⚠
p.Tyr613Cys Single submitter ⚠
p.Tyr899Cys Single submitter ⚠
p.Val1035Phe Single submitter ⚠
p.Val1235Leu Single submitter ⚠
p.Val1302Ile Single submitter ⚠
p.Val213Ala Single submitter ⚠
p.Val231Ile Single submitter ⚠
p.Val264Met Single submitter ⚠
p.Val269Leu Single submitter ⚠
p.Val269Met Single submitter ⚠
p.Val442Met Single submitter ⚠
p.Val781Ile Single submitter ⚠
p.Val828Phe Single submitter ⚠
p.Val869Ile Single submitter ⚠
p.Val912Ala Single submitter ⚠
c.741+6T>C No assertion criteria PASK-related disorder
p.Gly599Asp No assertion criteria PASK-related disorder ⚠