BLTP3A — 208 ClinVar variants

All ClinVar germline BLTP3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

3 Benign · 7 Likely benign · 198 Uncertain significance

Full BLTP3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 170

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 170

Predictors split 23

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

All BLTP3A variants

Benign 3

p.Arg1380Lys Single submitter
p.Arg827Cys Single submitter
p.Gly152Val Single submitter

Likely benign 7

p.Arg740Gln Single submitter
p.Asn304Ser Single submitter
p.Gly889Ser Single submitter
p.Met1075Val Single submitter
p.Trp587Arg Single submitter
p.Val813Ala Single submitter
p.Val904Ile Single submitter

Uncertain significance 198

p.Val1190Phe Multiple submitters ⚠
p.Ala1021Gly Single submitter ⚠
p.Ala1174Pro Single submitter ⚠
p.Ala1217Val Single submitter ⚠
p.Ala1366Ser Single submitter ⚠
p.Ala257Thr Single submitter ⚠
p.Ala263Ser Single submitter ⚠
p.Ala373Ser Single submitter ⚠
p.Ala481Thr Single submitter ⚠
p.Ala720Val Single submitter ⚠
p.Ala728Val Single submitter ⚠
p.Ala764Val Single submitter ⚠
p.Ala766Val Single submitter ⚠
p.Ala878Val Single submitter ⚠
p.Arg1092Gln Single submitter ⚠
p.Arg1120Gln Single submitter ⚠
p.Arg1120Trp Single submitter ⚠
p.Arg1207Cys Single submitter ⚠
p.Arg1261Cys Single submitter ⚠
p.Arg15Gly Single submitter ⚠
p.Arg168Cys Single submitter ⚠
p.Arg168His Single submitter ⚠
p.Arg309His Single submitter ⚠
p.Arg330His Single submitter ⚠
p.Arg342Gly Single submitter ⚠
p.Arg361Cys Single submitter ⚠
p.Arg382Cys Single submitter ⚠
p.Arg382His Single submitter ⚠
p.Arg390Gly Single submitter ⚠
p.Arg427Trp Single submitter ⚠
p.Arg437Gln Single submitter ⚠
p.Arg469Trp Single submitter ⚠
p.Arg496Gln Single submitter ⚠
p.Arg558Cys Single submitter ⚠
p.Arg582Gln Single submitter ⚠
p.Arg604Cys Single submitter ⚠
p.Arg604His Single submitter ⚠
p.Arg60Trp Single submitter ⚠
p.Arg636Trp Single submitter ⚠
p.Arg69Gln Single submitter ⚠
p.Arg733Cys Single submitter ⚠
p.Arg740Leu Single submitter ⚠
p.Arg829Ser Single submitter ⚠
p.Arg840His Single submitter ⚠
p.Asn101Asp Single submitter ⚠
p.Asn101Ser Single submitter ⚠
p.Asn1175Asp Single submitter ⚠
p.Asn130Ser Single submitter ⚠
p.Asn158Ser Single submitter ⚠
p.Asn197Ser Single submitter ⚠
p.Asn228Ser Single submitter ⚠
p.Asn26Asp Single submitter ⚠
p.Asn302Tyr Single submitter ⚠
p.Asn304Tyr Single submitter ⚠
p.Asn535Ser Single submitter ⚠
p.Asn619Ser Single submitter
p.Asn866Lys Single submitter ⚠
p.Asp1056His Single submitter ⚠
p.Asp332Glu Single submitter ⚠
p.Asp831His Single submitter ⚠
p.Asp892Asn Single submitter ⚠
p.Asp913Gly Single submitter ⚠
p.Asp96Val Single submitter ⚠
p.Cys1242Tyr Single submitter ⚠
p.Cys626Phe Single submitter ⚠
p.Cys675Tyr Single submitter ⚠
p.Cys81Ser Single submitter ⚠
p.Gln1407Arg Single submitter ⚠
p.Gln1429Lys Single submitter ⚠
p.Gln161His Single submitter ⚠
p.Gln477Glu Single submitter ⚠
p.Gln849Lys Single submitter ⚠
p.Gln945Leu Single submitter ⚠
p.Glu1209Lys Single submitter ⚠
p.Glu123Gln Single submitter ⚠
p.Glu1291Lys Single submitter ⚠
p.Glu1385Asp Single submitter ⚠
p.Glu857Lys Single submitter ⚠
p.Glu946Lys Single submitter ⚠
p.Gly1109Val Single submitter ⚠
p.Gly1168Val Single submitter ⚠
p.Gly1170Ala Single submitter ⚠
p.Gly1226Ser Single submitter ⚠
p.Gly421Glu Single submitter ⚠
p.Gly861Arg Single submitter ⚠
p.His1271Gln Single submitter ⚠
p.His1361Tyr Single submitter ⚠
p.His379Arg Single submitter ⚠
p.His383Arg Single submitter ⚠
p.His409Arg Single submitter ⚠
p.His476Tyr Single submitter ⚠
p.His499Tyr Single submitter ⚠
p.His603Arg Single submitter ⚠
p.His625Arg Single submitter ⚠
p.His650Gln Single submitter ⚠
p.His825Arg Single submitter ⚠
p.His832Arg Single submitter ⚠
p.Ile1014Val Single submitter ⚠
p.Ile1254Met Single submitter ⚠
p.Ile1254Val Single submitter ⚠
p.Ile128Val Single submitter ⚠
p.Ile1317Val Single submitter ⚠
p.Ile1362Thr Single submitter ⚠
p.Ile1411Thr Single submitter ⚠
p.Ile58Val Single submitter ⚠
p.Ile68Leu Single submitter
p.Leu1066Ser Single submitter ⚠
p.Leu108Pro Single submitter ⚠
p.Leu1222Phe Single submitter ⚠
p.Leu1297Pro Single submitter ⚠
p.Leu1403Val Single submitter ⚠
p.Leu209Pro Single submitter ⚠
p.Leu260Val Single submitter ⚠
p.Leu39Val Single submitter ⚠
p.Leu546Ser Single submitter ⚠
p.Leu664Phe Single submitter ⚠
p.Leu682Phe Single submitter ⚠
p.Leu750Val Single submitter ⚠
p.Leu75Val Single submitter ⚠
p.Leu903Phe Single submitter ⚠
p.Leu992Met Single submitter ⚠
p.Lys1012Asn Single submitter ⚠
p.Lys1026Asn Single submitter ⚠
p.Lys1064Arg Single submitter ⚠
p.Lys221Arg Single submitter
p.Lys272Arg Single submitter ⚠
p.Lys653Glu Single submitter ⚠
p.Met1024Val Single submitter ⚠
p.Met1037Val Single submitter ⚠
p.Met1062Arg Single submitter ⚠
p.Met1062Leu Single submitter ⚠
p.Met1065Thr Single submitter ⚠
p.Met1098Ile Single submitter ⚠
p.Met1098Val Single submitter ⚠
p.Met264Val Single submitter ⚠
p.Met615Ile Single submitter ⚠
p.Met859Val Single submitter ⚠
p.Met91Arg Single submitter ⚠
p.Met91Thr Single submitter ⚠
p.Phe1107Leu Single submitter ⚠
p.Phe117Tyr Single submitter ⚠
p.Phe1243Cys Single submitter ⚠
p.Phe1438Leu Single submitter ⚠
p.Phe563Leu Single submitter ⚠
p.Phe705Ser Single submitter ⚠
p.Pro100His Single submitter ⚠
p.Pro1189Leu Single submitter ⚠
p.Pro1331Leu Single submitter ⚠
p.Pro1332Ala Single submitter ⚠
p.Pro1332Arg Single submitter ⚠
p.Pro1332Ser Single submitter ⚠
p.Pro1342Arg Single submitter
p.Pro283Ser Single submitter ⚠
p.Pro436Ser Single submitter ⚠
p.Pro53Leu Single submitter ⚠
p.Pro543Ala Single submitter ⚠
p.Pro723Leu Single submitter ⚠
p.Pro79Leu Single submitter ⚠
p.Pro863Ser Single submitter ⚠
p.Pro995Leu Single submitter ⚠
p.Ser1125Cys Single submitter ⚠
p.Ser1337Pro Single submitter ⚠
p.Ser303Asn Single submitter ⚠
p.Ser403Arg Single submitter ⚠
p.Ser403Ile Single submitter ⚠
p.Ser493Cys Single submitter ⚠
p.Ser545Ile Single submitter ⚠
p.Ser572Thr Single submitter ⚠
p.Ser909Phe Single submitter ⚠
p.Ser974Phe Single submitter ⚠
p.Thr1025Ala Single submitter ⚠
p.Thr1029Ser Single submitter ⚠
p.Thr1047Ile Single submitter ⚠
p.Thr1101Met Single submitter ⚠
p.Thr204Ser Single submitter ⚠
p.Thr211Met Single submitter ⚠
p.Thr282Ala Single submitter ⚠
p.Thr37Ile Single submitter
p.Thr412Met Single submitter ⚠
p.Thr490Ile Single submitter ⚠
p.Thr503Ser Single submitter ⚠
p.Thr681Ile Single submitter ⚠
p.Thr708Ala Single submitter ⚠
p.Thr715Ala Single submitter ⚠
p.Thr77Ile Single submitter ⚠
p.Thr860Ile Single submitter ⚠
p.Trp458Arg Single submitter ⚠
p.Tyr324Cys Single submitter ⚠
p.Tyr515Cys Single submitter ⚠
p.Tyr62Cys Single submitter ⚠
p.Val1206Ile Single submitter ⚠
p.Val1228Met Single submitter ⚠
p.Val505Ile Single submitter ⚠
p.Val696Ala Single submitter ⚠
p.Val826Ile Single submitter ⚠
p.Val828Leu Single submitter ⚠
p.Val904Ala Single submitter ⚠
p.Val972Ile Single submitter ⚠