GAK — 255 ClinVar variants

All ClinVar germline GAK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 217 flagged for review →

9 Benign · 2 Benign/Likely benign · 18 Likely benign · 226 Uncertain significance

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

⚑ Evidence disagreements 217

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 181

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 181

Predictors split 36

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

All GAK variants

Benign 9

p.Asp1297= Multiple submitters
p.Glu816Lys Multiple submitters
p.His1287= Multiple submitters
p.Lys1265Arg Multiple submitters
p.Pro1139Arg Multiple submitters ⚠
p.Pro586= Multiple submitters
p.Asp787Tyr Single submitter
p.Leu1218Arg Single submitter
p.Val505= Single submitter

Benign/Likely benign 2

p.Glu1020= Multiple submitters
p.Pro720Ser Multiple submitters

Likely benign 18

p.Ala1255= Multiple submitters
p.Ala341Thr Single submitter
p.Ala494Ser Single submitter
p.Ala786Thr Single submitter
p.Ala845= Single submitter
p.Arg790His Single submitter
p.Asn321= Single submitter
p.Gly1092Ser Single submitter
p.Gly1103= Single submitter
p.Gly832Glu Single submitter
p.Gly982Ser Single submitter
p.Pro1080Leu Single submitter
p.Pro1137= Single submitter
p.Pro966Leu Single submitter
p.Ser1300Leu Single submitter
p.Ser968= Single submitter
p.Thr794= Single submitter
p.Tyr338= Single submitter

Uncertain significance 226

p.Ala1002Ser Single submitter ⚠
p.Ala1002Thr Single submitter ⚠
p.Ala1009Ser Single submitter ⚠
p.Ala1038Val Single submitter ⚠
p.Ala1053Ser Single submitter ⚠
p.Ala1072Val Single submitter ⚠
p.Ala1150Val Single submitter ⚠
p.Ala1158Thr Single submitter ⚠
p.Ala267Val Single submitter ⚠
p.Ala294Thr Single submitter ⚠
p.Ala317Thr Single submitter ⚠
p.Ala319Thr Single submitter ⚠
p.Ala354Thr Single submitter ⚠
p.Ala363Pro Single submitter ⚠
p.Ala513Val Single submitter ⚠
p.Ala534Thr Single submitter ⚠
p.Ala647Ser Single submitter ⚠
p.Ala647Thr Single submitter
p.Ala766Thr Single submitter ⚠
p.Ala768Ser Single submitter ⚠
p.Ala845Gly Single submitter ⚠
p.Ala854Gly Single submitter ⚠
p.Ala892Thr Single submitter ⚠
p.Ala903Ser Single submitter ⚠
p.Ala957Pro Single submitter ⚠
p.Ala957Thr Single submitter ⚠
p.Ala999Pro Single submitter ⚠
p.Ala999Val Single submitter ⚠
p.Arg1123Trp Single submitter ⚠
p.Arg1162Trp Single submitter
p.Arg1165Cys Single submitter ⚠
p.Arg1232Trp Single submitter ⚠
p.Arg1269His Single submitter ⚠
p.Arg1308Pro Single submitter ⚠
p.Arg270Gln Single submitter ⚠
p.Arg270Gly Single submitter ⚠
p.Arg320Cys Single submitter ⚠
p.Arg345Gln Single submitter ⚠
p.Arg379Gln Single submitter ⚠
p.Arg384Gln Single submitter ⚠
p.Arg439Trp Single submitter ⚠
p.Arg464Gly Single submitter ⚠
p.Arg464Ser Single submitter ⚠
p.Arg478Gln Single submitter ⚠
p.Arg497Gln Single submitter ⚠
p.Arg527Cys Single submitter ⚠
p.Arg607His Single submitter
p.Arg619Trp Single submitter ⚠
p.Arg648Gly Single submitter ⚠
p.Arg64Gly Single submitter
p.Arg676Gln Single submitter ⚠
p.Arg714Lys Single submitter ⚠
p.Arg717Gln Single submitter ⚠
p.Arg728Thr Single submitter ⚠
p.Arg739Trp Single submitter ⚠
p.Arg844Lys Single submitter ⚠
p.Arg951Lys Single submitter ⚠
p.Asn1148Thr Single submitter ⚠
p.Asn1178Asp Single submitter ⚠
p.Asn1296His Single submitter ⚠
p.Asn237Thr Single submitter ⚠
p.Asn321Thr Single submitter ⚠
p.Asn986Asp Single submitter ⚠
p.Asn986Ser Single submitter ⚠
p.Asp1010Gly Single submitter ⚠
p.Asp1081Glu Single submitter ⚠
p.Asp1088Asn Single submitter ⚠
p.Asp1088His Single submitter ⚠
p.Asp1194Glu Single submitter ⚠
p.Asp1244Asn Single submitter ⚠
p.Asp146Asn Single submitter ⚠
p.Asp282Asn Single submitter ⚠
p.Asp407Gly Single submitter ⚠
p.Asp616Asn Single submitter
p.Asp616Glu Single submitter ⚠
p.Asp830Asn Single submitter ⚠
p.Asp846Asn Single submitter ⚠
p.Asp879His Single submitter ⚠
p.Asp909Asn Single submitter ⚠
p.Gln1064His Single submitter ⚠
p.Gln1187Glu Single submitter ⚠
p.Gln165Arg Single submitter ⚠
p.Gln702His Single submitter ⚠
p.Gln858His Single submitter ⚠
p.Gln973Glu Single submitter ⚠
p.Glu1160Asp Single submitter ⚠
p.Glu215Gln Single submitter ⚠
p.Glu436Lys Single submitter ⚠
p.Glu471Lys Single submitter ⚠
p.Glu75Gly Single submitter
p.Glu774Lys Single submitter ⚠
p.Glu802Lys Single submitter ⚠
p.Glu839Lys Single submitter ⚠
p.Glu848Val Single submitter ⚠
p.Glu932Lys Single submitter ⚠
p.Glu983Lys Single submitter ⚠
p.Gly1115Ser Single submitter ⚠
p.Gly1157Arg Single submitter ⚠
p.Gly1197Trp Single submitter ⚠
p.Gly1245Arg Single submitter
p.Gly241Ser Single submitter ⚠
p.Gly372Ala Single submitter ⚠
p.Gly373Ser Single submitter ⚠
p.Gly406Ser Single submitter ⚠
p.Gly473Ala Single submitter ⚠
p.Gly626Asp Single submitter ⚠
p.Gly633Arg Single submitter ⚠
p.Gly633Cys Single submitter ⚠
p.Gly653Ser Single submitter ⚠
p.Gly833Glu Single submitter ⚠
p.Gly851Ser Single submitter ⚠
p.Gly885Ser Single submitter ⚠
p.Gly953Glu Single submitter ⚠
p.His1000Tyr Single submitter ⚠
p.His887Tyr Single submitter ⚠
p.Ile107Leu Single submitter ⚠
p.Ile107Val Single submitter ⚠
p.Ile1201Val Single submitter ⚠
p.Ile1291Thr Single submitter ⚠
p.Ile377Val Single submitter ⚠
p.Ile488Met Single submitter ⚠
p.Ile548Val Single submitter Incidental Discovery ⚠
p.Ile556Met Single submitter ⚠
p.Ile623Val Single submitter ⚠
p.Ile693Val Single submitter ⚠
p.Ile83Val Single submitter ⚠
p.Leu1093Phe Single submitter ⚠
p.Leu1216Val Single submitter ⚠
p.Leu1257Pro Single submitter ⚠
p.Leu130Val Single submitter ⚠
p.Leu174Ile Single submitter ⚠
p.Leu408Met Single submitter ⚠
p.Leu980Ile Single submitter ⚠
p.Lys1136Arg Single submitter ⚠
p.Lys135Arg Single submitter ⚠
p.Lys166Glu Single submitter ⚠
p.Lys268Arg Single submitter ⚠
p.Met225Ile Single submitter ⚠
p.Met509Val Single submitter ⚠
p.Met559Thr Single submitter ⚠
p.Met582Thr Single submitter ⚠
p.Phe133Leu Single submitter ⚠
p.Phe238Leu Single submitter ⚠
p.Phe522Leu Single submitter ⚠
p.Phe996Leu Single submitter ⚠
p.Pro1052Leu Single submitter ⚠
p.Pro1065Gln Single submitter ⚠
p.Pro1124Leu Single submitter ⚠
p.Pro1133Leu Single submitter ⚠
p.Pro1137Ala Single submitter ⚠
p.Pro1147His Single submitter ⚠
p.Pro1198Leu Single submitter ⚠
p.Pro1260Leu Single submitter
p.Pro1283Leu Single submitter ⚠
p.Pro14Arg Single submitter
p.Pro280Leu Single submitter ⚠
p.Pro280Ser Single submitter ⚠
p.Pro347Gln Single submitter ⚠
p.Pro370Ser Single submitter ⚠
p.Pro423Leu Single submitter ⚠
p.Pro447Ala Single submitter ⚠
p.Pro457Leu Single submitter ⚠
p.Pro550Ala Single submitter ⚠
p.Pro771Leu Single submitter ⚠
p.Pro775Ala Single submitter ⚠
p.Pro782Leu Single submitter ⚠
p.Pro782Ser Single submitter ⚠
p.Pro843Ala Single submitter ⚠
p.Pro849Ser Single submitter ⚠
p.Pro868Ala Single submitter ⚠
p.Pro868Leu Single submitter ⚠
p.Pro876Ser Single submitter ⚠
p.Pro894Leu Single submitter ⚠
p.Pro897Leu Single submitter ⚠
p.Pro926Gln Single submitter ⚠
p.Pro926Leu Single submitter ⚠
p.Pro934Gln Single submitter ⚠
p.Pro943Ala Single submitter ⚠
p.Pro950Ala Single submitter ⚠
p.Pro963Leu Single submitter ⚠
p.Ser1027Pro Single submitter ⚠
p.Ser1073Arg Single submitter ⚠
p.Ser1073Thr Single submitter ⚠
p.Ser1193Cys Single submitter ⚠
p.Ser1307Phe Single submitter ⚠
p.Ser1307Pro Single submitter ⚠
p.Ser356Gly Single submitter ⚠
p.Ser359Asn Single submitter ⚠
p.Ser359Ile Single submitter ⚠
p.Ser738Gly Single submitter ⚠
p.Ser784Gly Single submitter ⚠
p.Ser784Thr Single submitter ⚠
p.Ser817Phe Single submitter ⚠
p.Ser967Thr Single submitter ⚠
p.Ser989Phe Single submitter ⚠
p.Thr1112Met Single submitter ⚠
p.Thr114Met Single submitter ⚠
p.Thr1213Met Single submitter ⚠
p.Thr1240Ile Single submitter ⚠
p.Thr1250Met Single submitter ⚠
p.Thr155Ala Single submitter ⚠
p.Thr283Arg Single submitter ⚠
p.Thr283Met Single submitter ⚠
p.Thr387Ala Single submitter ⚠
p.Thr569Ala Single submitter ⚠
p.Thr611Ala Single submitter ⚠
p.Thr680Ala Single submitter ⚠
p.Thr794Pro Single submitter ⚠
p.Thr867Ile Single submitter ⚠
p.Tyr1149Cys Single submitter ⚠
p.Tyr1284Cys Single submitter ⚠
p.Tyr285His Single submitter
p.Tyr285Phe Single submitter ⚠
p.Tyr403Cys Single submitter ⚠
p.Tyr486Asp Single submitter ⚠
p.Val310Ala Single submitter ⚠
p.Val322Met Single submitter ⚠
p.Val503Ile Single submitter ⚠
p.Val505Ile Single submitter ⚠
p.Val506Ala Single submitter ⚠
p.Val536Met Single submitter ⚠
p.Val580Met Single submitter ⚠
p.Val603Met Single submitter ⚠
p.Val629Met Single submitter ⚠
p.Val875Met Single submitter ⚠
p.Val946Met Single submitter ⚠