CASKIN2 — 255 ClinVar variants

All ClinVar germline CASKIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 250 flagged for review →

1 Benign · 4 Likely benign · 250 Uncertain significance

Full CASKIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 250

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 142

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 108

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

All CASKIN2 variants

Benign 1

c.1467+8C>A Multiple submitters

Likely benign 4

c.1468-4G>A Single submitter
p.Ala1177Thr Single submitter
p.Pro1032Ser Single submitter
p.Thr853Ala Single submitter

Uncertain significance 250

p.Ala1005Glu Single submitter ⚠
p.Ala1005Thr Single submitter ⚠
p.Ala1087Gly Single submitter ⚠
p.Ala1087Val Single submitter ⚠
p.Ala1088Thr Single submitter ⚠
p.Ala111Thr Single submitter ⚠
p.Ala1120Val Single submitter ⚠
p.Ala1144Ser Single submitter ⚠
p.Ala1199Ser Single submitter ⚠
p.Ala288Val Single submitter ⚠
p.Ala359Val Single submitter ⚠
p.Ala437Val Single submitter ⚠
p.Ala493Thr Single submitter ⚠
p.Ala552Thr Single submitter ⚠
p.Ala569Thr Single submitter ⚠
p.Ala620Val Single submitter ⚠
p.Ala631Val Single submitter ⚠
p.Ala716Val Single submitter ⚠
p.Ala774Thr Single submitter ⚠
p.Ala786Asp Single submitter ⚠
p.Ala815Ser Single submitter ⚠
p.Ala815Val Single submitter ⚠
p.Ala837Pro Single submitter ⚠
p.Ala921Thr Single submitter ⚠
p.Ala923Pro Single submitter ⚠
p.Ala926Thr Single submitter ⚠
p.Ala967Thr Single submitter ⚠
p.Arg103His Single submitter ⚠
p.Arg1122Gln Single submitter ⚠
p.Arg1122Trp Single submitter ⚠
p.Arg217Cys Single submitter ⚠
p.Arg250Gln Single submitter ⚠
p.Arg271Trp Single submitter ⚠
p.Arg278Trp Single submitter ⚠
p.Arg304Gln Single submitter ⚠
p.Arg319His Single submitter ⚠
p.Arg333Cys Single submitter ⚠
p.Arg355His Single submitter ⚠
p.Arg364His Single submitter ⚠
p.Arg369Gln Single submitter ⚠
p.Arg369Trp Single submitter ⚠
p.Arg389Trp Single submitter ⚠
p.Arg3Gly Single submitter ⚠
p.Arg470Cys Single submitter ⚠
p.Arg470His Single submitter ⚠
p.Arg481Gln Single submitter ⚠
p.Arg481Trp Single submitter ⚠
p.Arg618Gln Single submitter ⚠
p.Arg618Trp Single submitter ⚠
p.Arg623Trp Single submitter ⚠
p.Arg624Gln Single submitter ⚠
p.Arg637His Single submitter ⚠
p.Arg638Gln Single submitter ⚠
p.Arg638Trp Single submitter ⚠
p.Arg663Gln Single submitter ⚠
p.Arg663Trp Single submitter ⚠
p.Arg694Cys Single submitter ⚠
p.Arg704Cys Single submitter ⚠
p.Arg704His Single submitter ⚠
p.Arg706Gln Single submitter ⚠
p.Arg738Trp Single submitter ⚠
p.Arg793Gln Single submitter ⚠
p.Arg796His Single submitter ⚠
p.Arg797Gln Single submitter ⚠
p.Arg797Trp Single submitter ⚠
p.Arg803Cys Single submitter ⚠
p.Arg832Gln Single submitter ⚠
p.Arg832Trp Single submitter ⚠
p.Arg835His Single submitter ⚠
p.Arg840Gln Single submitter ⚠
p.Arg840Trp Single submitter ⚠
p.Arg851Gln Single submitter ⚠
p.Arg855Cys Single submitter ⚠
p.Arg862Gln Single submitter ⚠
p.Arg864Trp Single submitter ⚠
p.Arg865Cys Single submitter ⚠
p.Arg865His Single submitter ⚠
p.Arg903Gln Single submitter ⚠
p.Arg905Gln Single submitter ⚠
p.Arg943Trp Single submitter ⚠
p.Arg992Gln Single submitter ⚠
p.Arg997Trp Single submitter ⚠
p.Asn188Ser Single submitter ⚠
p.Asn302Ser Single submitter ⚠
p.Asn460Lys Single submitter ⚠
p.Asp1184Asn Single submitter ⚠
p.Asp1191Asn Single submitter ⚠
p.Asp246Gly Single submitter ⚠
p.Asp446Gly Single submitter ⚠
p.Asp48Asn Single submitter ⚠
p.Asp585Asn Single submitter ⚠
p.Asp890Val Single submitter ⚠
p.Asp981Asn Single submitter ⚠
p.Asp988Gly Single submitter ⚠
p.Cys173Gly Single submitter ⚠
p.Gln218Pro Single submitter ⚠
p.Gln728Lys Single submitter ⚠
p.Glu1040Lys Single submitter ⚠
p.Glu178Asp Single submitter ⚠
p.Glu214Lys Single submitter ⚠
p.Glu649Lys Single submitter ⚠
p.Glu686Val Single submitter ⚠
p.Glu816Lys Single submitter ⚠
p.Glu897Lys Single submitter ⚠
p.Glu932Asp Single submitter ⚠
p.Glu948Lys Single submitter ⚠
p.Gly1028Ala Single submitter ⚠
p.Gly1116Asp Single submitter ⚠
p.Gly1124Ser Single submitter ⚠
p.Gly179Ser Single submitter ⚠
p.Gly18Val Single submitter ⚠
p.Gly212Glu Single submitter ⚠
p.Gly244Ser Single submitter ⚠
p.Gly282Glu Single submitter ⚠
p.Gly35Ala Single submitter ⚠
p.Gly514Ser Single submitter ⚠
p.Gly571Glu Single submitter ⚠
p.Gly625Ser Single submitter ⚠
p.Gly636Arg Single submitter ⚠
p.Gly669Ser Single submitter ⚠
p.Gly682Glu Single submitter ⚠
p.Gly773Asp Single submitter ⚠
p.Gly783Arg Single submitter ⚠
p.Gly834Glu Single submitter ⚠
p.Gly852Arg Single submitter ⚠
p.Gly898Glu Single submitter ⚠
p.Gly938Val Single submitter ⚠
p.Gly979Ser Single submitter ⚠
p.His1181Tyr Single submitter ⚠
p.His137Arg Single submitter ⚠
p.His194Arg Single submitter ⚠
p.His495Arg Single submitter ⚠
p.Ile1182Val Single submitter ⚠
p.Ile551Met Single submitter ⚠
p.Ile559Val Single submitter ⚠
p.Ile601Thr Single submitter ⚠
p.Ile701Phe Single submitter ⚠
p.Leu1071Pro Single submitter ⚠
p.Leu135Phe Single submitter ⚠
p.Leu295Phe Single submitter ⚠
p.Leu295Val Single submitter ⚠
p.Leu432Arg Single submitter ⚠
p.Leu486Arg Single submitter ⚠
p.Leu62Val Single submitter ⚠
p.Leu688Phe Single submitter ⚠
p.Leu801Gln Single submitter ⚠
p.Leu907Val Single submitter ⚠
p.Leu984Phe Single submitter ⚠
p.Lys1094Gln Single submitter ⚠
p.Lys148Glu Single submitter ⚠
p.Lys149Asn Single submitter ⚠
p.Lys182Gln Single submitter ⚠
p.Lys611Gln Single submitter ⚠
p.Lys641Asn Single submitter ⚠
p.Lys641Glu Single submitter ⚠
p.Lys896Glu Single submitter ⚠
p.Met1189Val Single submitter ⚠
p.Met680Leu Single submitter ⚠
p.Phe1114Ser Single submitter ⚠
p.Pro1027Ala Single submitter ⚠
p.Pro1027Ser Single submitter ⚠
p.Pro1031Ser Single submitter ⚠
p.Pro1052Arg Single submitter ⚠
p.Pro1052His Single submitter ⚠
p.Pro1057Ser Single submitter ⚠
p.Pro1064Leu Single submitter ⚠
p.Pro1086Gln Single submitter ⚠
p.Pro1086Leu Single submitter ⚠
p.Pro1096Ser Single submitter ⚠
p.Pro1130Ser Single submitter ⚠
p.Pro339Leu Single submitter ⚠
p.Pro360Ser Single submitter ⚠
p.Pro371Arg Single submitter ⚠
p.Pro371Leu Single submitter ⚠
p.Pro394Leu Single submitter ⚠
p.Pro441Leu Single submitter ⚠
p.Pro454Gln Single submitter ⚠
p.Pro455Leu Single submitter ⚠
p.Pro518Leu Single submitter ⚠
p.Pro643Leu Single submitter ⚠
p.Pro687Arg Single submitter ⚠
p.Pro726Arg Single submitter ⚠
p.Pro726His Single submitter ⚠
p.Pro726Ser Single submitter ⚠
p.Pro727Ala Single submitter ⚠
p.Pro727Arg Single submitter ⚠
p.Pro727His Single submitter ⚠
p.Pro747Thr Single submitter ⚠
p.Pro752Ser Single submitter ⚠
p.Pro766Leu Single submitter ⚠
p.Pro785Ser Single submitter ⚠
p.Pro791Leu Single submitter ⚠
p.Pro794Leu Single submitter ⚠
p.Pro818Ser Single submitter ⚠
p.Pro884Leu Single submitter ⚠
p.Pro884Ser Single submitter ⚠
p.Pro887Ser Single submitter ⚠
p.Pro888Arg Single submitter ⚠
p.Pro902Leu Single submitter ⚠
p.Pro916Ala Single submitter ⚠
p.Pro919Leu Single submitter ⚠
p.Pro940Ser Single submitter ⚠
p.Pro969Leu Single submitter ⚠
p.Pro970Arg Single submitter ⚠
p.Pro977Ser Single submitter ⚠
p.Ser1024Thr Single submitter ⚠
p.Ser1034Phe Single submitter ⚠
p.Ser1106Leu Single submitter ⚠
p.Ser385Asn Single submitter ⚠
p.Ser396Asn Single submitter ⚠
p.Ser409Asn Single submitter ⚠
p.Ser581Gly Single submitter ⚠
p.Ser582Cys Single submitter ⚠
p.Ser582Gly Single submitter ⚠
p.Ser695Cys Single submitter ⚠
p.Ser720Gly Single submitter ⚠
p.Ser80Gly Single submitter ⚠
p.Ser836Asn Single submitter ⚠
p.Ser877Gly Single submitter ⚠
p.Ser942Pro Single submitter ⚠
p.Ser945Gly Single submitter ⚠
p.Thr1015Ala Single submitter ⚠
p.Thr1026Asn Single submitter ⚠
p.Thr1026Ile Single submitter ⚠
p.Thr1168Ile Single submitter ⚠
p.Thr221Met Single submitter ⚠
p.Thr252Met Single submitter ⚠
p.Thr256Met Single submitter ⚠
p.Thr310Met Single submitter ⚠
p.Thr370Ser Single submitter ⚠
p.Thr524Ala Single submitter ⚠
p.Thr529Met Single submitter ⚠
p.Thr594Asn Single submitter ⚠
p.Thr846Ile Single submitter ⚠
p.Thr900Ala Single submitter ⚠
p.Thr906Lys Single submitter ⚠
p.Thr929Met Single submitter ⚠
p.Tyr125Phe Single submitter ⚠
p.Tyr128His Single submitter ⚠
p.Tyr336Cys Single submitter ⚠
p.Tyr758His Single submitter ⚠
p.Val1128Glu Single submitter ⚠
p.Val11Ile Single submitter ⚠
p.Val247Ala Single submitter ⚠
p.Val247Met Single submitter ⚠
p.Val303Ile Single submitter ⚠
p.Val517Met Single submitter ⚠
p.Val755Ile Single submitter ⚠
p.Val879Ile Single submitter ⚠
p.Val976Met Single submitter ⚠