UBAP2 — 182 ClinVar variants

All ClinVar germline UBAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →

3 Benign · 15 Likely benign · 164 Uncertain significance

Full UBAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 158

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 132

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

Predictors split 26

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

All UBAP2 variants

Benign 3

p.Leu667Ile Multiple submitters
p.Met762Ile Multiple submitters
c.2464-6A>G Single submitter

Likely benign 15

p.Ala308Val Single submitter
p.Ala732Thr Single submitter
p.Ala775Thr Single submitter
p.Ala775Val Single submitter
p.Ala785Val Single submitter
p.Gly471Arg Single submitter
p.Met613Thr Single submitter
p.Met643Thr Single submitter
p.Pro684= Single submitter
p.Ser128Ala Single submitter
p.Thr205Ile Single submitter
p.Thr414Ala Single submitter
p.Thr486= Single submitter
p.Val160Ala Single submitter
p.Val207Gly Single submitter

Uncertain significance 164

p.Ala1070Thr Single submitter ⚠
p.Ala217Ser Single submitter ⚠
p.Ala305Thr Single submitter ⚠
p.Ala382Thr Single submitter ⚠
p.Ala849Val Single submitter ⚠
p.Ala851Val Single submitter ⚠
p.Ala878Val Single submitter ⚠
p.Ala880Thr Single submitter ⚠
p.Ala884Val Single submitter ⚠
p.Ala976Gly Single submitter ⚠
p.Arg1094Cys Single submitter
p.Arg1094Leu Single submitter ⚠
p.Arg130Cys Single submitter ⚠
p.Arg132Cys Single submitter ⚠
p.Arg137Gln Single submitter ⚠
p.Arg137Trp Single submitter ⚠
p.Arg140Thr Single submitter ⚠
p.Arg166Cys Single submitter ⚠
p.Arg171Gln Single submitter ⚠
p.Arg177His Single submitter ⚠
p.Arg40Ser Single submitter ⚠
p.Arg508Gln Single submitter ⚠
p.Arg834Trp Single submitter ⚠
p.Arg853Gly Single submitter ⚠
p.Arg871Cys Single submitter ⚠
p.Asn1021Asp Single submitter ⚠
p.Asn1021Ser Single submitter ⚠
p.Asn1113Tyr Single submitter ⚠
p.Asn1119Asp Single submitter ⚠
p.Asn143Ile Single submitter ⚠
p.Asn231Ser Single submitter ⚠
p.Asn234Ser Single submitter ⚠
p.Asn309His Single submitter ⚠
p.Asn331Asp Single submitter ⚠
p.Asn644Ser Single submitter ⚠
p.Asp1014Gly Single submitter ⚠
p.Asp161Glu Single submitter ⚠
p.Asp198Asn Single submitter ⚠
p.Asp656Glu Single submitter ⚠
p.Asp826Asn Single submitter ⚠
p.Gln304Glu Single submitter ⚠
p.Gln329Arg Single submitter ⚠
p.Gln375Glu Single submitter ⚠
p.Glu362Asp Single submitter ⚠
p.Glu362Val Single submitter ⚠
p.Glu827Lys Single submitter ⚠
p.Gly103Glu Single submitter ⚠
p.Gly131Glu Single submitter ⚠
p.Gly172Val Single submitter ⚠
p.Gly176Val Single submitter ⚠
p.Gly471Glu Single submitter ⚠
p.Gly814Arg Single submitter ⚠
p.Gly872Glu Single submitter ⚠
p.Gly996Asp Single submitter ⚠
p.His1080Tyr Single submitter
p.His1082Pro Single submitter ⚠
p.His233Leu Single submitter ⚠
p.His283Asn Single submitter ⚠
p.His806Gln Single submitter ⚠
p.Ile491Thr Single submitter ⚠
p.Ile642Thr Single submitter ⚠
p.Leu228Arg Single submitter ⚠
p.Leu247Phe Single submitter ⚠
p.Leu292Val Single submitter ⚠
p.Leu363Pro Single submitter ⚠
p.Leu410Pro Single submitter ⚠
p.Leu481Phe Single submitter ⚠
p.Leu682Phe Single submitter ⚠
p.Leu701Phe Single submitter ⚠
p.Leu758Pro Single submitter ⚠
p.Lys1103Asn Single submitter ⚠
p.Lys117Arg Single submitter ⚠
p.Lys122Thr Single submitter ⚠
p.Lys16Asn Single submitter ⚠
p.Lys411Arg Single submitter ⚠
p.Lys464Glu Single submitter ⚠
p.Lys659Glu Single submitter ⚠
p.Met1015Thr Single submitter ⚠
p.Met921Leu Single submitter ⚠
p.Phe1026Cys Single submitter ⚠
p.Phe1026Leu Single submitter ⚠
p.Phe425Leu Single submitter ⚠
p.Phe932Leu Single submitter ⚠
p.Pro1063Leu Single submitter
p.Pro1084Ser Single submitter ⚠
p.Pro299Ser Single submitter ⚠
p.Pro402Arg Single submitter ⚠
p.Pro412Ser Single submitter ⚠
p.Pro453Ser Single submitter ⚠
p.Pro474Leu Single submitter ⚠
p.Pro511Ser Single submitter ⚠
p.Pro821Leu Single submitter ⚠
p.Pro847Leu Single submitter ⚠
p.Pro883Ser Single submitter ⚠
p.Pro934Leu Single submitter ⚠
p.Pro950Ser Single submitter ⚠
p.Ser1008Asn Single submitter ⚠
p.Ser1043Leu Single submitter ⚠
p.Ser1053Leu Single submitter ⚠
p.Ser1089Cys Single submitter ⚠
p.Ser129Arg Single submitter ⚠
p.Ser204Cys Single submitter ⚠
p.Ser24Leu Single submitter ⚠
p.Ser277Cys Single submitter ⚠
p.Ser328Leu Single submitter
p.Ser358Leu Single submitter ⚠
p.Ser398Ile Single submitter ⚠
p.Ser407Tyr Single submitter ⚠
p.Ser415Ala Single submitter ⚠
p.Ser439Arg Single submitter ⚠
p.Ser473Arg Single submitter ⚠
p.Ser568Leu Single submitter ⚠
p.Ser580Leu Single submitter ⚠
p.Ser583Cys Single submitter ⚠
p.Ser583Thr Single submitter ⚠
p.Ser607Cys Single submitter ⚠
p.Ser607Thr Single submitter ⚠
p.Ser637Ala Single submitter ⚠
p.Ser707Arg Single submitter ⚠
p.Ser720Leu Single submitter ⚠
p.Ser728Asn Single submitter ⚠
p.Ser737Phe Single submitter ⚠
p.Ser750Gly Single submitter ⚠
p.Ser751Phe Single submitter ⚠
p.Ser754Leu Single submitter ⚠
p.Ser876Pro Single submitter
p.Ser956Thr Single submitter ⚠
p.Ser980Phe Single submitter ⚠
p.Thr101Ala Single submitter ⚠
p.Thr193Ala Single submitter ⚠
p.Thr259Ile Single submitter ⚠
p.Thr25Met Single submitter ⚠
p.Thr389Pro Single submitter ⚠
p.Thr390Ala Single submitter ⚠
p.Thr406Ala Single submitter ⚠
p.Thr487Ile Single submitter ⚠
p.Thr596Ile Single submitter ⚠
p.Thr641Ala Single submitter ⚠
p.Thr677Ser Single submitter ⚠
p.Thr722Lys Single submitter ⚠
p.Thr722Met Single submitter ⚠
p.Thr848Ile Single submitter
p.Thr881Asn Single submitter ⚠
p.Thr882Ala Single submitter ⚠
p.Thr97Ile Single submitter ⚠
p.Trp251Cys Single submitter ⚠
p.Trp99Leu Single submitter ⚠
p.Tyr1020Cys Single submitter ⚠
p.Tyr1116Ser Single submitter ⚠
p.Tyr245Cys Single submitter ⚠
p.Tyr617Cys Single submitter ⚠
p.Tyr862Cys Single submitter ⚠
p.Tyr927Cys Single submitter ⚠
p.Tyr963Cys Single submitter ⚠
p.Val207Ala Single submitter ⚠
p.Val207Glu Single submitter ⚠
p.Val300Ala Single submitter ⚠
p.Val300Leu Single submitter ⚠
p.Val355Ile Single submitter ⚠
p.Val44Met Single submitter ⚠
p.Val477Ala Single submitter ⚠
p.Val611Ala Single submitter ⚠
p.Val801Leu Single submitter ⚠
p.Val811Ile Single submitter ⚠