CILP2 — 232 ClinVar variants

All ClinVar germline CILP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 226 flagged for review →

9 Likely benign · 223 Uncertain significance

Full CILP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 226

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 108

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

Predictors split 118

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

All CILP2 variants

Likely benign 9

p.Ala662Thr Single submitter
p.Ala958Ser Single submitter
p.Arg247Gln Single submitter
p.Arg256His Single submitter
p.Arg350His Single submitter ⚠
p.Arg374Trp Single submitter ⚠
p.Arg419His Single submitter ⚠
p.Gly889Glu Single submitter
p.Val13Ala Single submitter

Uncertain significance 223

p.Ala1022Val Single submitter ⚠
p.Ala1044Val Single submitter ⚠
p.Ala1045Val Single submitter ⚠
p.Ala1076Val Single submitter ⚠
p.Ala1096Val Single submitter ⚠
p.Ala1109Val Single submitter ⚠
p.Ala188Glu Single submitter ⚠
p.Ala23Val Single submitter ⚠
p.Ala268Val Single submitter ⚠
p.Ala271Ser Single submitter ⚠
p.Ala271Thr Single submitter ⚠
p.Ala305Ser Single submitter ⚠
p.Ala315Val Single submitter ⚠
p.Ala433Val Single submitter ⚠
p.Ala482Pro Single submitter ⚠
p.Ala482Ser Single submitter ⚠
p.Ala491Gly Single submitter ⚠
p.Ala49Asp Single submitter ⚠
p.Ala56Thr Single submitter ⚠
p.Ala579Thr Single submitter ⚠
p.Ala590Thr Single submitter ⚠
p.Ala621Val Single submitter ⚠
p.Ala678Asp Single submitter ⚠
p.Ala678Thr Single submitter ⚠
p.Ala743Val Single submitter ⚠
p.Ala745Pro Single submitter ⚠
p.Ala784Gly Single submitter ⚠
p.Ala795Val Single submitter ⚠
p.Ala938Thr Single submitter ⚠
p.Ala958Thr Single submitter ⚠
p.Arg1020Gly Single submitter ⚠
p.Arg1020Leu Single submitter ⚠
p.Arg1033Gln Single submitter ⚠
p.Arg1079His Single submitter ⚠
p.Arg1111Gln Single submitter ⚠
p.Arg1130Cys Single submitter ⚠
p.Arg1130His Single submitter ⚠
p.Arg1148Cys Single submitter ⚠
p.Arg1151Gln Single submitter ⚠
p.Arg1151Trp Single submitter ⚠
p.Arg1155Gln Single submitter ⚠
p.Arg1155Gly Single submitter ⚠
p.Arg119His Single submitter ⚠
p.Arg142Gly Single submitter ⚠
p.Arg142Ser Single submitter ⚠
p.Arg184Cys Single submitter ⚠
p.Arg184Ser Single submitter ⚠
p.Arg195Gly Single submitter ⚠
p.Arg247Trp Single submitter ⚠
p.Arg256Cys Single submitter ⚠
p.Arg260Lys Single submitter ⚠
p.Arg301Pro Single submitter ⚠
p.Arg350Cys Single submitter ⚠
p.Arg374Gln Single submitter ⚠
p.Arg388Trp Single submitter ⚠
p.Arg390Gly Single submitter ⚠
p.Arg419Gly Single submitter ⚠
p.Arg429Gly Single submitter ⚠
p.Arg436Cys Single submitter ⚠
p.Arg442Cys Single submitter ⚠
p.Arg472Trp Single submitter ⚠
p.Arg478Gly Single submitter ⚠
p.Arg606Trp Single submitter ⚠
p.Arg648Cys Single submitter ⚠
p.Arg664Gln Single submitter ⚠
p.Arg712Leu Single submitter ⚠
p.Arg734Ser Single submitter ⚠
p.Arg735Cys Single submitter ⚠
p.Arg742His Single submitter ⚠
p.Arg776Cys Single submitter ⚠
p.Arg776Leu Single submitter ⚠
p.Arg780His Single submitter ⚠
p.Arg780Leu Single submitter ⚠
p.Arg81Ser Single submitter ⚠
p.Arg826His Single submitter ⚠
p.Arg845Leu Single submitter ⚠
p.Arg846Gly Single submitter ⚠
p.Arg856Ser Single submitter ⚠
p.Arg860Gly Single submitter ⚠
p.Arg860His Single submitter ⚠
p.Arg88Cys Single submitter ⚠
p.Arg898His Single submitter ⚠
p.Arg954His Single submitter ⚠
p.Asn568Lys Single submitter ⚠
p.Asn64Lys Single submitter ⚠
p.Asn728Ser Single submitter ⚠
p.Asn789Ser Single submitter ⚠
p.Asn857Lys Single submitter ⚠
p.Asp1095Val Single submitter ⚠
p.Asp22Glu Single submitter ⚠
p.Asp241Asn Single submitter ⚠
p.Asp264Gly Single submitter ⚠
p.Asp386Asn Single submitter ⚠
p.Asp417Gly Single submitter ⚠
p.Asp508Asn Single submitter ⚠
p.Asp541Tyr Single submitter ⚠
p.Asp614Glu Single submitter ⚠
p.Asp747Asn Single submitter ⚠
p.Asp782Gly Single submitter ⚠
p.Asp798Glu Single submitter ⚠
p.Asp800Asn Single submitter ⚠
p.Asp925Gly Single submitter ⚠
p.Asp980Glu Single submitter ⚠
p.Cys204Tyr Single submitter ⚠
p.Cys385Gly Single submitter ⚠
p.Cys385Phe Single submitter ⚠
p.Cys792Tyr Single submitter ⚠
p.Gln272Lys Single submitter ⚠
p.Gln272Pro Single submitter ⚠
p.Gln518His Single submitter ⚠
p.Gln946His Single submitter ⚠
p.Glu1132Ala Single submitter ⚠
p.Glu1135Lys Single submitter ⚠
p.Glu27Lys Single submitter ⚠
p.Glu391Asp Single submitter ⚠
p.Glu391Gly Single submitter ⚠
p.Glu447Gly Single submitter ⚠
p.Glu486Lys Single submitter ⚠
p.Glu512Ala Single submitter ⚠
p.Glu530Asp Single submitter ⚠
p.Glu574Lys Single submitter ⚠
p.Glu583Gln Single submitter ⚠
p.Glu58Gln Single submitter ⚠
p.Glu908Asp Single submitter ⚠
p.Gly1016Ser Single submitter ⚠
p.Gly1087Ser Single submitter ⚠
p.Gly1097Arg Single submitter ⚠
p.Gly1110Arg Single submitter ⚠
p.Gly165Asp Single submitter ⚠
p.Gly183Trp Single submitter ⚠
p.Gly277Arg Single submitter ⚠
p.Gly306Asp Single submitter ⚠
p.Gly317Arg Single submitter ⚠
p.Gly348Glu Single submitter ⚠
p.Gly596Ser Single submitter ⚠
p.Gly689Ser Single submitter ⚠
p.Gly696Asp Single submitter ⚠
p.Gly70Asp Single submitter ⚠
p.Gly757Ala Single submitter ⚠
p.Gly770Arg Single submitter ⚠
p.Gly787Asp Single submitter ⚠
p.Gly787Ser Single submitter ⚠
p.Gly815Ser Single submitter ⚠
p.His297Gln Single submitter ⚠
p.His338Tyr Single submitter ⚠
p.His549Tyr Single submitter ⚠
p.His849Asp Single submitter ⚠
p.Ile284Phe Single submitter ⚠
p.Ile394Thr Single submitter ⚠
p.Ile500Thr Single submitter ⚠
p.Ile511Thr Single submitter ⚠
p.Ile861Val Single submitter ⚠
p.Leu414Ile Single submitter ⚠
p.Leu5Met Single submitter ⚠
p.Leu7Pro Single submitter ⚠
p.Met1133Val Single submitter ⚠
p.Met554Ile Single submitter ⚠
p.Met998Thr Single submitter ⚠
p.Phe502Ile Single submitter ⚠
p.Phe74Ile Single submitter ⚠
p.Pro1036Arg Single submitter ⚠
p.Pro1037Arg Single submitter ⚠
p.Pro1037Gln Single submitter ⚠
p.Pro1039Thr Single submitter ⚠
p.Pro117Leu Single submitter ⚠
p.Pro129Leu Single submitter ⚠
p.Pro157Leu Single submitter ⚠
p.Pro174Leu Single submitter ⚠
p.Pro25Leu Single submitter ⚠
p.Pro292Ala Single submitter ⚠
p.Pro387Arg Single submitter ⚠
p.Pro387Ser Single submitter ⚠
p.Pro471Arg Single submitter ⚠
p.Pro514Leu Single submitter ⚠
p.Pro559Gln Single submitter ⚠
p.Pro559Ser Single submitter ⚠
p.Pro580Ser Single submitter ⚠
p.Pro686Arg Single submitter ⚠
p.Pro866Ser Single submitter ⚠
p.Pro91Leu Single submitter ⚠
p.Pro933Leu Single submitter ⚠
p.Ser1113Arg Single submitter ⚠
p.Ser1121Thr Single submitter ⚠
p.Ser159Leu Single submitter ⚠
p.Ser214Thr Single submitter ⚠
p.Ser370Leu Single submitter ⚠
p.Ser434Arg Single submitter ⚠
p.Ser565Asn Single submitter ⚠
p.Ser668Thr Single submitter ⚠
p.Ser783Asn Single submitter ⚠
p.Ser883Arg Single submitter ⚠
p.Ser987Trp Single submitter ⚠
p.Thr1065Ile Single submitter ⚠
p.Thr1098Ile Single submitter ⚠
p.Thr239Ala Single submitter ⚠
p.Thr376Ile Single submitter ⚠
p.Thr418Ser Single submitter ⚠
p.Thr608Lys Single submitter ⚠
p.Thr639Ser Single submitter ⚠
p.Thr688Ser Single submitter ⚠
p.Thr761Lys Single submitter ⚠
p.Thr761Met Single submitter ⚠
p.Thr835Ile Single submitter ⚠
p.Trp53Ser Single submitter ⚠
p.Tyr137Cys Single submitter ⚠
p.Val1010Met Single submitter ⚠
p.Val109Ile Single submitter ⚠
p.Val1100Ile Single submitter ⚠
p.Val282Phe Single submitter ⚠
p.Val295Met Single submitter ⚠
p.Val368Met Single submitter ⚠
p.Val41Met Single submitter ⚠
p.Val457Met Single submitter ⚠
p.Val479Phe Single submitter ⚠
p.Val585Gly Single submitter ⚠
p.Val658Met Single submitter ⚠
p.Val663Gly Single submitter ⚠
p.Val755Ala Single submitter ⚠
p.Val758Met Single submitter ⚠
p.Val832Gly Single submitter ⚠
p.Val832Leu Single submitter ⚠
p.Val892Ala Single submitter ⚠
p.Val953Ile Single submitter ⚠