BLTP3B — 178 ClinVar variants

All ClinVar germline BLTP3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 161 flagged for review →

1 Conflicting · 13 Benign · 5 Likely benign · 159 Uncertain significance

Full BLTP3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 161

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

BLTP3B p.Tyr1151His Conflicting Single submitter

Predictors lean, ClinVar uncertain 126

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

Predictors split 34

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

All BLTP3B variants

Conflicting classifications of pathogenicity 1

p.Tyr1151His Single submitter ⚠

Benign 13

p.Leu491= Multiple submitters
c.208-4G>T Single submitter
p.Arg189= Single submitter
p.Asp1223Asn Single submitter
p.Asp998Gly Single submitter
p.Gln213= Single submitter
p.Gly850= Single submitter
p.Ile1175Val Single submitter
p.Phe905Ile Single submitter
p.Ser688= Single submitter
p.Thr1341= Single submitter
p.Thr743Ala Single submitter
p.Val1073= Single submitter

Likely benign 5

p.Gly1161Ser Single submitter
p.Ser1017Leu Single submitter
p.Ser717Asn Single submitter ⚠
p.Thr1005Ile Single submitter
p.Thr294Pro Single submitter

Uncertain significance 159

p.Ala109Val Single submitter ⚠
p.Ala1162Thr Single submitter ⚠
p.Ala1272Ser Single submitter ⚠
p.Ala231Ser Single submitter ⚠
p.Ala231Thr Single submitter ⚠
p.Ala257Gly Single submitter ⚠
p.Ala66Thr Single submitter ⚠
p.Ala847Val Single submitter ⚠
p.Ala867Gly Single submitter ⚠
p.Arg1089His Single submitter ⚠
p.Arg1152Ser Single submitter ⚠
p.Arg1237Cys Single submitter ⚠
p.Arg1329Leu Single submitter ⚠
p.Arg1329Trp Single submitter ⚠
p.Arg345Cys Single submitter ⚠
p.Arg477Cys Single submitter ⚠
p.Arg477His Single submitter ⚠
p.Arg598Cys Single submitter ⚠
p.Arg613Lys Single submitter ⚠
p.Arg619Gln Single submitter ⚠
p.Arg762Gln Single submitter ⚠
p.Arg765Trp Single submitter ⚠
p.Arg932Ser Single submitter ⚠
p.Asn1322Asp Single submitter ⚠
p.Asn142Ser Single submitter ⚠
p.Asn298Asp Single submitter ⚠
p.Asn386Ser Single submitter ⚠
p.Asn466His Single submitter ⚠
p.Asn521Ser Single submitter ⚠
p.Asn782Asp Single submitter ⚠
p.Asp1023Ala Single submitter ⚠
p.Asp1064Gly Single submitter ⚠
p.Asp1242Asn Single submitter ⚠
p.Asp1242Glu Single submitter ⚠
p.Asp1361Glu Single submitter ⚠
p.Asp23Asn Single submitter ⚠
p.Asp333Asn Single submitter ⚠
p.Asp511Glu Single submitter ⚠
p.Asp998Val Single submitter ⚠
p.Cys859Ser Single submitter ⚠
p.Gln1219His Single submitter ⚠
p.Gln1243Pro Single submitter ⚠
p.Gln1397Arg Single submitter ⚠
p.Gln280Glu Single submitter ⚠
p.Gln405Arg Single submitter ⚠
p.Gln664Pro Single submitter ⚠
p.Gln753His Single submitter ⚠
p.Gln855Arg Single submitter ⚠
p.Gln878His Single submitter ⚠
p.Glu1129Gly Single submitter ⚠
p.Glu1416Asp Single submitter ⚠
p.Glu269Gln Single submitter ⚠
p.Glu397Gln Single submitter ⚠
p.Glu591Lys Single submitter ⚠
p.Glu736Ala Single submitter ⚠
p.Glu995Ala Single submitter ⚠
p.Gly1026Arg Single submitter ⚠
p.Gly1132Arg Single submitter ⚠
p.Gly1153Val Single submitter ⚠
p.Gly1226Asp Single submitter ⚠
p.Gly1355Asp Single submitter ⚠
p.Gly783Arg Single submitter ⚠
p.His1248Gln Single submitter ⚠
p.His1268Gln Single submitter ⚠
p.His1346Arg Single submitter ⚠
p.His161Leu Single submitter ⚠
p.His593Leu Single submitter ⚠
p.His654Pro Single submitter ⚠
p.His669Arg Single submitter ⚠
p.His78Asn Single submitter ⚠
p.Ile1019Val Single submitter ⚠
p.Ile1065Val Single submitter ⚠
p.Ile1282Val Single submitter ⚠
p.Ile134Ser Single submitter ⚠
p.Ile1458Val Single submitter ⚠
p.Ile216Thr Single submitter ⚠
p.Ile335Val Single submitter ⚠
p.Ile484Met Single submitter ⚠
p.Ile502Leu Single submitter ⚠
p.Ile58Val Single submitter ⚠
p.Ile805Thr Single submitter ⚠
p.Ile961Met Single submitter ⚠
p.Leu1011Val Single submitter ⚠
p.Leu1035Ser Single submitter ⚠
p.Leu1059Phe Single submitter ⚠
p.Leu1455His Single submitter ⚠
p.Leu759Val Single submitter ⚠
p.Leu807Ile Single submitter ⚠
p.Lys1000Arg Single submitter ⚠
p.Lys1087Glu Single submitter ⚠
p.Lys383Glu Single submitter ⚠
p.Lys450Thr Single submitter ⚠
p.Lys986Arg Single submitter ⚠
p.Lys999Glu Single submitter ⚠
p.Met1111Ile Single submitter ⚠
p.Met1310Ile Single submitter ⚠
p.Met1442Lys Single submitter ⚠
p.Met253Val Single submitter ⚠
p.Met454Thr Single submitter ⚠
p.Met556Leu Single submitter ⚠
p.Met579Val Single submitter ⚠
p.Met934Ile Single submitter ⚠
p.Met934Val Single submitter ⚠
p.Phe145Cys Single submitter ⚠
p.Phe650Val Single submitter ⚠
p.Pro1072Arg Single submitter ⚠
p.Pro1086Leu Single submitter ⚠
p.Pro22Ala Single submitter ⚠
p.Pro434Ser Single submitter ⚠
p.Pro510Leu Single submitter ⚠
p.Pro678Ser Single submitter ⚠
p.Ser1032Leu Single submitter ⚠
p.Ser1032Pro Single submitter ⚠
p.Ser1058Leu Single submitter ⚠
p.Ser1256Phe Single submitter ⚠
p.Ser1286Gly Single submitter ⚠
p.Ser1293Cys Single submitter ⚠
p.Ser1331Thr Single submitter ⚠
p.Ser1384Asn Single submitter ⚠
p.Ser1409Phe Single submitter ⚠
p.Ser198Leu Single submitter ⚠
p.Ser446Pro Single submitter ⚠
p.Ser456Asn Single submitter ⚠
p.Ser524Asn Single submitter ⚠
p.Ser586Phe Single submitter ⚠
p.Ser637Asn Single submitter ⚠
p.Ser756Cys Single submitter ⚠
p.Ser887Thr Single submitter ⚠
p.Ser889Asn Single submitter ⚠
p.Ser914Thr Single submitter ⚠
p.Ser922Gly Single submitter ⚠
p.Ser939Arg Single submitter ⚠
p.Ser981Asn Single submitter ⚠
p.Ser981Thr Single submitter ⚠
p.Ser987Thr Single submitter ⚠
p.Thr1034Ala Single submitter ⚠
p.Thr1170Ser Single submitter ⚠
p.Thr1319Ala Single submitter ⚠
p.Thr1319Met Single submitter ⚠
p.Thr1399Ala Single submitter ⚠
p.Thr1462Ala Single submitter ⚠
p.Thr283Ala Single submitter ⚠
p.Thr294Met Single submitter ⚠
p.Thr384Arg Single submitter ⚠
p.Thr900Ser Single submitter ⚠
p.Trp375Arg Single submitter ⚠
p.Tyr1101Cys Single submitter ⚠
p.Tyr377His Single submitter ⚠
p.Tyr492Cys Single submitter ⚠
p.Tyr501Cys Single submitter ⚠
p.Tyr640Cys Single submitter ⚠
p.Val1192Leu Single submitter ⚠
p.Val1306Ile Single submitter ⚠
p.Val1348Met Single submitter ⚠
p.Val1375Leu Single submitter ⚠
p.Val291Met Single submitter ⚠
p.Val400Ile Single submitter ⚠
p.Val470Phe Single submitter ⚠
p.Val719Ile Single submitter ⚠