CASKIN1 — 304 ClinVar variants

All ClinVar germline CASKIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 281 flagged for review →

14 Likely benign · 290 Uncertain significance

Full CASKIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 281

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 236

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 236

Predictors split 45

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

All CASKIN1 variants

Likely benign 14

c.618-5G>A Single submitter
p.Ala526Thr Single submitter
p.Ala926= Single submitter
p.Gly1056Asp Single submitter
p.Gly1296Ser Single submitter
p.Gly1316Ser Single submitter
p.Gly745Ser Single submitter
p.His747= Single submitter
p.Ile584= Single submitter
p.Pro1165= Single submitter
p.Pro429= Single submitter
p.Pro966Ser Single submitter
p.Val1236Met Single submitter
p.Val412Ile Single submitter

Uncertain significance 290

p.Ala89Val Multiple submitters ⚠
p.Arg699Gln Multiple submitters ⚠
p.Ala1005Thr Single submitter ⚠
p.Ala1005Val Single submitter ⚠
p.Ala1019Ser Single submitter ⚠
p.Ala1019Thr Single submitter ⚠
p.Ala1045Thr Single submitter ⚠
p.Ala1108Gly Single submitter ⚠
p.Ala1108Val Single submitter ⚠
p.Ala1116Pro Single submitter ⚠
p.Ala1154Thr Single submitter ⚠
p.Ala1186Asp Single submitter ⚠
p.Ala1206Val Single submitter ⚠
p.Ala1218Thr Single submitter ⚠
p.Ala1300Val Single submitter ⚠
p.Ala1304Val Single submitter ⚠
p.Ala1326Gly Single submitter ⚠
p.Ala1340Thr Single submitter ⚠
p.Ala1346Thr Single submitter ⚠
p.Ala1346Val Single submitter ⚠
p.Ala1358Thr Single submitter ⚠
p.Ala1369Ser Single submitter ⚠
p.Ala1403Thr Single submitter ⚠
p.Ala175Val Single submitter ⚠
p.Ala224Thr Single submitter ⚠
p.Ala282Val Single submitter ⚠
p.Ala370Val Single submitter ⚠
p.Ala395Thr Single submitter ⚠
p.Ala407Thr Single submitter ⚠
p.Ala451Gly Single submitter ⚠
p.Ala453Thr Single submitter ⚠
p.Ala476Pro Single submitter ⚠
p.Ala483Val Single submitter ⚠
p.Ala490Val Single submitter ⚠
p.Ala57Asp Single submitter ⚠
p.Ala611Ser Single submitter ⚠
p.Ala74Ser Single submitter ⚠
p.Ala74Thr Single submitter ⚠
p.Ala859Val Single submitter ⚠
p.Ala869Thr Single submitter ⚠
p.Ala888Val Single submitter ⚠
p.Ala904Val Single submitter ⚠
p.Ala922Val Single submitter ⚠
p.Ala958Gly Single submitter ⚠
p.Arg1018Gln Single submitter ⚠
p.Arg1018Trp Single submitter ⚠
p.Arg1031Cys Single submitter ⚠
p.Arg1079Gln Single submitter ⚠
p.Arg1079Trp Single submitter ⚠
p.Arg1150His Single submitter ⚠
p.Arg1178His Single submitter ⚠
p.Arg1262Cys Single submitter ⚠
p.Arg1262Gly Single submitter ⚠
p.Arg1400Cys Single submitter ⚠
p.Arg180Gln Single submitter ⚠
p.Arg217Leu Single submitter
p.Arg287Gln Single submitter ⚠
p.Arg328Gln Single submitter ⚠
p.Arg328Trp Single submitter ⚠
p.Arg333Trp Single submitter ⚠
p.Arg348Gln Single submitter ⚠
p.Arg398Gln Single submitter ⚠
p.Arg445Gln Single submitter ⚠
p.Arg445Trp Single submitter ⚠
p.Arg505Cys Single submitter ⚠
p.Arg522Gln Single submitter ⚠
p.Arg522Trp Single submitter ⚠
p.Arg619Cys Single submitter ⚠
p.Arg619Ser Single submitter ⚠
p.Arg691Gln Single submitter ⚠
p.Arg691Trp Single submitter ⚠
p.Arg699Trp Single submitter ⚠
p.Arg743Trp Single submitter ⚠
p.Arg764Trp Single submitter ⚠
p.Arg816Cys Single submitter ⚠
p.Arg816His Single submitter ⚠
p.Arg821Cys Single submitter
p.Arg879Gln Single submitter ⚠
p.Arg879Trp Single submitter
p.Arg895Gln Single submitter ⚠
p.Arg912Gln Single submitter ⚠
p.Arg916Cys Single submitter
p.Arg932Gly Single submitter ⚠
p.Arg94Gln Single submitter ⚠
p.Arg980Trp Single submitter ⚠
p.Arg984Gln Single submitter ⚠
p.Arg984Trp Single submitter ⚠
p.Asn1137Thr Single submitter ⚠
p.Asn188Lys Single submitter ⚠
p.Asn295Asp Single submitter ⚠
p.Asn331His Single submitter ⚠
p.Asn331Ser Single submitter ⚠
p.Asn565Ser Single submitter ⚠
p.Asp1146Ala Single submitter ⚠
p.Asp1146Asn Single submitter ⚠
p.Asp1367His Single submitter ⚠
p.Asp1367Tyr Single submitter ⚠
p.Asp1395Val Single submitter ⚠
p.Asp1414Asn Single submitter ⚠
p.Asp1424Asn Single submitter ⚠
p.Asp1427Ala Single submitter ⚠
p.Asp153His Single submitter ⚠
p.Asp186Asn Single submitter ⚠
p.Asp214Asn Single submitter ⚠
p.Asp510Glu Single submitter ⚠
p.Asp536Ala Single submitter ⚠
p.Asp870Glu Single submitter ⚠
p.Asp890Asn Single submitter ⚠
p.Asp890His Single submitter ⚠
p.Asp896Asn Single submitter ⚠
p.Asp896Glu Single submitter ⚠
p.Cys293Arg Single submitter ⚠
p.Gln1397Leu Single submitter ⚠
p.Gln20Arg Single submitter ⚠
p.Gln218Glu Single submitter ⚠
p.Gln24Arg Single submitter ⚠
p.Gln285Lys Single submitter ⚠
p.Gln361His Single submitter ⚠
p.Gln447Lys Single submitter ⚠
p.Gln765Leu Single submitter ⚠
p.Gln982Arg Single submitter ⚠
p.Glu1025Asp Single submitter ⚠
p.Glu1051Gly Single submitter ⚠
p.Glu1144Lys Single submitter ⚠
p.Glu1190Lys Single submitter ⚠
p.Glu1215Ala Single submitter ⚠
p.Glu1361Lys Single submitter ⚠
p.Glu1389Lys Single submitter ⚠
p.Glu1431Gln Single submitter ⚠
p.Glu14Gln Single submitter ⚠
p.Glu235Asp Single submitter ⚠
p.Glu343Gly Single submitter ⚠
p.Glu459Lys Single submitter ⚠
p.Glu568Ala Single submitter ⚠
p.Glu568Asp Single submitter ⚠
p.Glu63Gly Single submitter ⚠
p.Glu656Lys Single submitter ⚠
p.Glu660Gln Single submitter
p.Glu660Lys Single submitter ⚠
p.Glu741Asp Single submitter ⚠
p.Glu741Lys Single submitter ⚠
p.Glu892Lys Single submitter ⚠
p.Glu897Lys Single submitter ⚠
p.Glu971Gln Single submitter ⚠
p.Glu971Lys Single submitter ⚠
p.Gly1072Val Single submitter ⚠
p.Gly1094Asp Single submitter ⚠
p.Gly1366Arg Single submitter ⚠
p.Gly1409Ser Single submitter ⚠
p.Gly1416Arg Single submitter ⚠
p.Gly1416Asp Single submitter ⚠
p.Gly389Ser Single submitter ⚠
p.Gly454Arg Single submitter ⚠
p.Gly531Ser Single submitter ⚠
p.Gly716Glu Single submitter ⚠
p.Gly732Ala Single submitter ⚠
p.Gly748Cys Single submitter ⚠
p.Gly793Glu Single submitter ⚠
p.Gly831Asp Single submitter ⚠
p.Gly842Asp Single submitter ⚠
p.Gly991Ser Single submitter ⚠
p.His1027Tyr Single submitter ⚠
p.His262Tyr Single submitter ⚠
p.His521Asp Single submitter ⚠
p.His541Tyr Single submitter ⚠
p.His702Pro Single submitter ⚠
p.His829Tyr Single submitter ⚠
p.Ile1053Met Single submitter ⚠
p.Ile1128Met Single submitter ⚠
p.Ile345Val Single submitter ⚠
p.Ile375Thr Single submitter ⚠
p.Ile570Thr Single submitter
p.Leu298Pro Single submitter ⚠
p.Leu486Gln Single submitter ⚠
p.Leu64Phe Single submitter ⚠
p.Leu811Pro Single submitter ⚠
p.Leu898Val Single submitter ⚠
p.Leu977Pro Single submitter ⚠
p.Lys1139Arg Single submitter ⚠
p.Lys1155Met Single submitter ⚠
p.Lys1220Gln Single submitter ⚠
p.Lys1229Met Single submitter ⚠
p.Lys472Gln Single submitter ⚠
p.Lys621Gln Single submitter ⚠
p.Lys762Arg Single submitter ⚠
p.Lys99Asn Single submitter ⚠
p.Met143Val Single submitter ⚠
p.Met649Lys Single submitter ⚠
p.Met703Thr Single submitter ⚠
p.Met83Thr Single submitter ⚠
p.Pro1024Thr Single submitter ⚠
p.Pro1032Ser Single submitter ⚠
p.Pro1161Ser Single submitter ⚠
p.Pro1163Ser Single submitter ⚠
p.Pro1194Ala Single submitter ⚠
p.Pro1196Arg Single submitter ⚠
p.Pro1200Ser Single submitter ⚠
p.Pro1209His Single submitter ⚠
p.Pro1235Ser Single submitter ⚠
p.Pro1243Ser Single submitter ⚠
p.Pro1283Ser Single submitter ⚠
p.Pro1299Ser Single submitter ⚠
p.Pro1307Leu Single submitter ⚠
p.Pro1308Ser Single submitter ⚠
p.Pro1314Leu Single submitter ⚠
p.Pro1314Thr Single submitter ⚠
p.Pro1318Ser Single submitter ⚠
p.Pro1319Ser Single submitter ⚠
p.Pro1328Ser Single submitter ⚠
p.Pro1329Ser Single submitter ⚠
p.Pro1334Ala Single submitter ⚠
p.Pro1356Ala Single submitter ⚠
p.Pro1357Ala Single submitter ⚠
p.Pro1399Ser Single submitter ⚠
p.Pro181Arg Single submitter ⚠
p.Pro357Arg Single submitter ⚠
p.Pro357Ser Single submitter ⚠
p.Pro371Ser Single submitter ⚠
p.Pro372fs Single submitter
p.Pro381Ala Single submitter ⚠
p.Pro437Ala Single submitter ⚠
p.Pro437Leu Single submitter ⚠
p.Pro448Leu Single submitter ⚠
p.Pro461Leu Single submitter ⚠
p.Pro467Ala Single submitter ⚠
p.Pro617Ala Single submitter ⚠
p.Pro617Ser Single submitter ⚠
p.Pro623Leu Single submitter ⚠
p.Pro636Leu Single submitter ⚠
p.Pro684Ser Single submitter ⚠
p.Pro686Leu Single submitter ⚠
p.Pro714Ser Single submitter ⚠
p.Pro738Arg Single submitter ⚠
p.Pro739Ser Single submitter ⚠
p.Pro760Ser Single submitter ⚠
p.Pro777Leu Single submitter ⚠
p.Pro808Leu Single submitter ⚠
p.Pro812Leu Single submitter ⚠
p.Pro824Thr Single submitter ⚠
p.Pro854Arg Single submitter ⚠
p.Pro857Leu Single submitter ⚠
p.Pro873Leu Single submitter ⚠
p.Pro873Ser Single submitter ⚠
p.Pro876Ser Single submitter ⚠
p.Pro966Arg Single submitter ⚠
p.Ser1034Asn Single submitter ⚠
p.Ser1067Thr Single submitter
p.Ser1084Ala Single submitter ⚠
p.Ser1145Tyr Single submitter ⚠
p.Ser1168Phe Single submitter ⚠
p.Ser1271Phe Single submitter ⚠
p.Ser1402Leu Single submitter ⚠
p.Ser147Leu Single submitter ⚠
p.Ser243Arg Single submitter ⚠
p.Ser243Gly Single submitter ⚠
p.Ser51Leu Single submitter ⚠
p.Ser633Leu Single submitter ⚠
p.Ser646Phe Single submitter ⚠
p.Ser658Gly Single submitter
p.Ser722Phe Single submitter ⚠
p.Ser822Phe Single submitter ⚠
p.Ser889Ala Single submitter ⚠
p.Ser917Arg Single submitter ⚠
p.Ser917Asn Single submitter ⚠
p.Ser933Thr Single submitter ⚠
p.Thr1076Ala Single submitter ⚠
p.Thr1147Ala Single submitter ⚠
p.Thr299Ser Single submitter ⚠
p.Thr329Met Single submitter ⚠
p.Thr587Asn Single submitter ⚠
p.Thr775Met Single submitter ⚠
p.Thr779Met Single submitter ⚠
p.Thr801Met Single submitter ⚠
p.Thr814Pro Single submitter ⚠
p.Thr828Met Single submitter ⚠
p.Thr909Met Single submitter ⚠
p.Tyr907Cys Single submitter ⚠
p.Val101Met Single submitter ⚠
p.Val1070Leu Single submitter ⚠
p.Val1110Ile Single submitter ⚠
p.Val1250Met Single submitter ⚠
p.Val249Met Single submitter ⚠
p.Val42Ile Single submitter ⚠
p.Val548Met Single submitter ⚠
p.Val759Met Single submitter ⚠
p.Val840Met Single submitter ⚠
p.Val844Met Single submitter ⚠
p.Val856Leu Single submitter ⚠
p.Val938Met Single submitter ⚠
p.Val993Met Single submitter ⚠