NISCH — 227 ClinVar variants

All ClinVar germline NISCH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →

1 Pathogenic · 9 Benign · 13 Likely benign · 204 Uncertain significance

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

⚑ Evidence disagreements 199

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 159

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 159

Predictors split 40

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

All NISCH variants

Pathogenic 1

p.Glu93fs Single submitter Lynch syndrome 1

Benign 9

p.Ala1028Val Multiple submitters
p.Ala552Val Multiple submitters
p.Ala624= Multiple submitters
p.Arg930His Multiple submitters
p.Phe1240= Multiple submitters
p.Lys460Arg Single submitter
p.Pro496= Single submitter
p.Ser238= Single submitter
p.Val299= Single submitter

Likely benign 13

p.Glu672Lys Multiple submitters ⚠
p.Ala148= Single submitter
p.Ala817= Single submitter
p.Ala905= Single submitter
p.Arg1132Gln Single submitter
p.Asp1436= Single submitter
p.Leu1382= Single submitter
p.Ser1445Asn Single submitter
p.Thr1082Ala Single submitter
p.Val1274= Single submitter
p.Val282Ile Single submitter
p.Val560Met Single submitter
p.Val861= Single submitter

Uncertain significance 204

p.Ala1014Thr Single submitter ⚠
p.Ala1028Thr Single submitter ⚠
p.Ala1065Val Single submitter ⚠
p.Ala1078Gly Single submitter ⚠
p.Ala1141Thr Single submitter ⚠
p.Ala1178Thr Single submitter ⚠
p.Ala127Thr Single submitter ⚠
p.Ala127Val Single submitter ⚠
p.Ala237Thr Single submitter ⚠
p.Ala251Ser Single submitter ⚠
p.Ala262Thr Single submitter ⚠
p.Ala288Ser Single submitter ⚠
p.Ala482Thr Single submitter ⚠
p.Ala495Thr Single submitter ⚠
p.Ala549Val Single submitter ⚠
p.Ala727Val Single submitter ⚠
p.Ala797Thr Single submitter ⚠
p.Ala805Thr Single submitter ⚠
p.Ala805Val Single submitter ⚠
p.Ala872Thr Single submitter ⚠
p.Ala896Thr Single submitter ⚠
p.Ala905Thr Single submitter ⚠
p.Arg1035His Single submitter ⚠
p.Arg1036Lys Single submitter ⚠
p.Arg1042Cys Single submitter ⚠
p.Arg1042His Single submitter ⚠
p.Arg1138Trp Single submitter ⚠
p.Arg1196Cys Single submitter ⚠
p.Arg1197Cys Single submitter ⚠
p.Arg1281Cys Single submitter ⚠
p.Arg1369Cys Single submitter ⚠
p.Arg1406Gln Single submitter ⚠
p.Arg1412Cys Single submitter ⚠
p.Arg248Cys Single submitter ⚠
p.Arg248His Single submitter ⚠
p.Arg385Gln Single submitter ⚠
p.Arg385Trp Single submitter ⚠
p.Arg396Gln Single submitter ⚠
p.Arg396Trp Single submitter ⚠
p.Arg421Gln Single submitter ⚠
p.Arg478Gln Single submitter ⚠
p.Arg605Cys Single submitter ⚠
p.Arg616Gln Single submitter ⚠
p.Arg653Cys Single submitter ⚠
p.Arg687His Single submitter ⚠
p.Arg706Gly Single submitter ⚠
p.Arg706His Single submitter ⚠
p.Arg723Cys Single submitter ⚠
p.Arg747Gln Single submitter ⚠
p.Arg747Pro Single submitter ⚠
p.Arg836Cys Single submitter ⚠
p.Arg836His Single submitter ⚠
p.Arg851Cys Single submitter ⚠
p.Arg851His Single submitter ⚠
p.Arg866Leu Single submitter ⚠
p.Arg891Trp Single submitter ⚠
p.Arg892His Single submitter ⚠
p.Arg930Cys Single submitter ⚠
p.Arg936His Single submitter ⚠
p.Asn1298Asp Single submitter ⚠
p.Asn1306Lys Single submitter ⚠
p.Asn381Ser Single submitter ⚠
p.Asn939His Single submitter ⚠
p.Asp1213Gly Single submitter ⚠
p.Asp176His Single submitter ⚠
p.Asp383His Single submitter ⚠
p.Asp386Glu Single submitter ⚠
p.Asp419Glu Single submitter ⚠
p.Asp419Gly Single submitter ⚠
p.Asp527Tyr Single submitter ⚠
p.Asp52Asn Single submitter ⚠
p.Asp559Glu Single submitter ⚠
p.Asp601Glu Single submitter ⚠
p.Asp806Glu Single submitter ⚠
p.Asp923Asn Single submitter ⚠
p.Cys403Arg Single submitter ⚠
p.Gln1024Arg Single submitter ⚠
p.Gln1428Arg Single submitter
p.Gln162Leu Single submitter ⚠
p.Gln207Arg Single submitter ⚠
p.Gln36Arg Single submitter ⚠
p.Gln36Glu Single submitter ⚠
p.Gln534Leu Single submitter ⚠
p.Gln534Ter Single submitter
p.Gln584His Single submitter ⚠
p.Glu1034Lys Single submitter ⚠
p.Glu1093Gln Single submitter ⚠
p.Glu1101Lys Single submitter ⚠
p.Glu1144Lys Single submitter ⚠
p.Glu121Asp Single submitter ⚠
p.Glu1379Lys Single submitter ⚠
p.Glu1394Lys Single submitter ⚠
p.Glu145Lys Single submitter ⚠
p.Glu223Lys Single submitter ⚠
p.Glu301Lys Single submitter ⚠
p.Glu390Lys Single submitter ⚠
p.Glu517Ala Single submitter ⚠
p.Glu573Asp Single submitter ⚠
p.Glu573Lys Single submitter ⚠
p.Glu623Lys Single submitter ⚠
p.Glu638Gln Single submitter ⚠
p.Glu681Lys Single submitter ⚠
p.Glu698Lys Single submitter ⚠
p.Gly1018Arg Single submitter ⚠
p.Gly105Cys Single submitter ⚠
p.Gly1070Asp Single submitter ⚠
p.Gly1194Ser Single submitter ⚠
p.Gly1439Asp Single submitter ⚠
p.Gly1456Val Single submitter ⚠
p.Gly178Ala Single submitter ⚠
p.Gly178Arg Single submitter ⚠
p.Gly277Cys Single submitter ⚠
p.Gly372Asp Single submitter ⚠
p.Gly429Arg Single submitter ⚠
p.Gly735Ser Single submitter ⚠
p.Gly873Arg Single submitter ⚠
p.His1133Tyr Single submitter ⚠
p.Ile1325Phe Single submitter ⚠
p.Ile215Val Single submitter ⚠
p.Ile224Val Single submitter ⚠
p.Ile511Thr Single submitter ⚠
p.Ile722Met Single submitter ⚠
p.Ile77Met Single submitter
p.Ile793Val Single submitter ⚠
p.Ile879Val Single submitter ⚠
p.Ile906Leu Single submitter ⚠
p.Leu1373Phe Single submitter ⚠
p.Leu141Pro Single submitter ⚠
p.Leu208Phe Single submitter ⚠
p.Leu275Pro Single submitter ⚠
p.Leu523Phe Single submitter ⚠
p.Leu71Arg Single submitter ⚠
p.Leu839Phe Single submitter ⚠
p.Leu886His Single submitter ⚠
p.Lys1015Arg Single submitter ⚠
p.Lys1015Ter Single submitter
p.Lys230Arg Single submitter ⚠
p.Met1252Arg Single submitter ⚠
p.Met512Ile Single submitter ⚠
p.Met512Leu Single submitter ⚠
p.Met657Val Single submitter ⚠
p.Met927Val Single submitter ⚠
p.Phe1225Leu Single submitter ⚠
p.Phe992Leu Single submitter ⚠
p.Pro1053Leu Single submitter ⚠
p.Pro1059Leu Single submitter ⚠
p.Pro1075Leu Single submitter ⚠
p.Pro1099Ala Single submitter ⚠
p.Pro1107Leu Single submitter
p.Pro1399Leu Single submitter ⚠
p.Pro1400Leu Single submitter ⚠
p.Pro210Leu Single submitter ⚠
p.Pro240Ala Single submitter ⚠
p.Pro284Arg Single submitter
p.Pro491Leu Single submitter ⚠
p.Pro492Ser Single submitter ⚠
p.Pro574Leu Single submitter ⚠
p.Pro659Ser Single submitter ⚠
p.Pro764Leu Single submitter ⚠
p.Ser1004Leu Single submitter ⚠
p.Ser1038Arg Single submitter ⚠
p.Ser1123Leu Single submitter ⚠
p.Ser1284Leu Single submitter ⚠
p.Ser1321Gly Single submitter ⚠
p.Ser238Leu Single submitter ⚠
p.Ser253Leu Single submitter ⚠
p.Ser263Thr Single submitter ⚠
p.Ser345Phe Single submitter ⚠
p.Ser408Cys Single submitter ⚠
p.Ser464Ala Single submitter ⚠
p.Ser464Phe Single submitter ⚠
p.Ser490Phe Single submitter ⚠
p.Ser528Cys Single submitter ⚠
p.Thr1016Asn Single submitter ⚠
p.Thr1016Ile Single submitter ⚠
p.Thr1090Met Single submitter ⚠
p.Thr1115Ser Single submitter ⚠
p.Thr1184Ile Single submitter ⚠
p.Thr1247Met Single submitter ⚠
p.Thr1256Met Single submitter ⚠
p.Thr1318Ile Single submitter ⚠
p.Thr1503Ala Single submitter ⚠
p.Thr291Met Single submitter ⚠
p.Thr732Pro Single submitter ⚠
p.Tyr1198His Single submitter ⚠
p.Tyr120Cys Single submitter ⚠
p.Tyr189Cys Single submitter ⚠
p.Tyr332Cys Single submitter ⚠
p.Tyr377Cys Single submitter ⚠
p.Val106Met Single submitter ⚠
p.Val1086Ile Single submitter ⚠
p.Val1180Met Single submitter ⚠
p.Val1274Ile Single submitter ⚠
p.Val1356Met Single submitter ⚠
p.Val1413Ile Single submitter ⚠
p.Val1467Ile Single submitter ⚠
p.Val1473Ile Single submitter ⚠
p.Val157Ile Single submitter ⚠
p.Val279Met Single submitter ⚠
p.Val335Ala Single submitter ⚠
p.Val407Met Single submitter ⚠
p.Val649Met Single submitter ⚠
p.Val971Met Single submitter ⚠
p.Val976Met Single submitter ⚠