BLTP2 — 279 ClinVar variants

All ClinVar germline BLTP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 264 flagged for review →

1 Conflicting · 4 Benign · 11 Likely benign · 263 Uncertain significance

Full BLTP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 264

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 173

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 173

Predictors split 91

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

All BLTP2 variants

Conflicting classifications of pathogenicity 1

p.Val2069Ile Single submitter ⚠

Benign 4

p.His986Gln Single submitter
p.Leu963= Single submitter
p.Pro725Leu Single submitter
p.Tyr954= Single submitter

Likely benign 11

p.Ala113Thr Single submitter
p.Ala1193= Single submitter
p.Arg1890Gln Single submitter
p.Arg856His Single submitter
p.Asn1708Ser Single submitter
p.Asp833Ala Single submitter
p.Gln239= Single submitter
p.Pro1514Ser Single submitter
p.Ser112= Single submitter
p.Ser160Arg Single submitter ⚠
p.Thr1508Ala Single submitter

Uncertain significance 263

p.Ala1395Ser Single submitter ⚠
p.Ala1564Thr Single submitter ⚠
p.Ala1826Thr Single submitter ⚠
p.Ala248Thr Single submitter ⚠
p.Ala324Thr Single submitter ⚠
p.Ala393Thr Single submitter ⚠
p.Ala539Thr Single submitter ⚠
p.Ala694Gly Single submitter ⚠
p.Ala742Ser Single submitter ⚠
p.Ala775Ser Single submitter ⚠
p.Ala859Val Single submitter ⚠
p.Ala916Val Single submitter ⚠
p.Ala917Thr Single submitter ⚠
p.Ala936Ser Single submitter ⚠
p.Ala969Thr Single submitter ⚠
p.Ala979Gly Single submitter ⚠
p.Arg1013Gln Single submitter ⚠
p.Arg1037His Single submitter ⚠
p.Arg1040Trp Single submitter ⚠
p.Arg1057Cys Single submitter ⚠
p.Arg1058Gln Single submitter ⚠
p.Arg1059His Single submitter ⚠
p.Arg1230Trp Single submitter ⚠
p.Arg1274Gln Single submitter ⚠
p.Arg1297Lys Single submitter ⚠
p.Arg1357Gln Single submitter ⚠
p.Arg1361Trp Single submitter ⚠
p.Arg1372Cys Single submitter ⚠
p.Arg1372His Single submitter ⚠
p.Arg1425Trp Single submitter ⚠
p.Arg1648Gln Single submitter ⚠
p.Arg1648Gly Single submitter ⚠
p.Arg1710Pro Single submitter ⚠
p.Arg1890Trp Single submitter ⚠
p.Arg1908His Single submitter ⚠
p.Arg1917Gln Single submitter ⚠
p.Arg1919Cys Single submitter ⚠
p.Arg1974Gln Single submitter ⚠
p.Arg2060Gln Single submitter ⚠
p.Arg2234Cys Single submitter ⚠
p.Arg2234His Single submitter ⚠
p.Arg312His Single submitter ⚠
p.Arg36Gln Single submitter ⚠
p.Arg462Trp Single submitter ⚠
p.Arg473His Single submitter ⚠
p.Arg48Cys Single submitter ⚠
p.Arg48His Single submitter ⚠
p.Arg48Leu Single submitter ⚠
p.Arg48Ser Single submitter ⚠
p.Arg656His Single submitter ⚠
p.Arg693Gly Single submitter ⚠
p.Arg718Cys Single submitter ⚠
p.Arg727Trp Single submitter ⚠
p.Arg761Trp Single submitter ⚠
p.Arg803Trp Single submitter ⚠
p.Arg813Gln Single submitter ⚠
p.Arg815Cys Single submitter ⚠
p.Arg856Cys Single submitter ⚠
p.Arg951Cys Single submitter ⚠
p.Arg952Leu Single submitter ⚠
p.Arg960Cys Single submitter ⚠
p.Asn1189Ser Single submitter ⚠
p.Asn183Lys Single submitter ⚠
p.Asn1868Ser Single submitter ⚠
p.Asn1966Ser Single submitter ⚠
p.Asn2113His Single submitter ⚠
p.Asn427Ser Single submitter ⚠
p.Asn445Ser Single submitter ⚠
p.Asn780Ser Single submitter ⚠
p.Asn784Ser Single submitter ⚠
p.Asn804Tyr Single submitter ⚠
p.Asn814Lys Single submitter ⚠
p.Asp139Val Single submitter ⚠
p.Asp1439Gly Single submitter ⚠
p.Asp1441Ala Single submitter ⚠
p.Asp1441Asn Single submitter ⚠
p.Asp327Glu Single submitter ⚠
p.Asp524Gly Single submitter ⚠
p.Asp690His Single submitter ⚠
p.Asp912Asn Single submitter ⚠
p.Cys1217Arg Single submitter ⚠
p.Cys1405Arg Single submitter ⚠
p.Cys207Arg Single submitter ⚠
p.Cys2147Phe Single submitter ⚠
p.Gln1060His Single submitter ⚠
p.Gln1332Arg Single submitter ⚠
p.Gln1351Glu Single submitter ⚠
p.Gln1351His Single submitter ⚠
p.Gln158Leu Single submitter ⚠
p.Gln1607Arg Single submitter ⚠
p.Gln1649His Single submitter ⚠
p.Gln1699Glu Single submitter ⚠
p.Gln1737Arg Single submitter ⚠
p.Gln1737Glu Single submitter ⚠
p.Gln1830His Single submitter ⚠
p.Gln1834Arg Single submitter ⚠
p.Gln1843Arg Single submitter ⚠
p.Gln1926Arg Single submitter ⚠
p.Gln345His Single submitter ⚠
p.Gln383Glu Single submitter ⚠
p.Gln853His Single submitter ⚠
p.Gln909His Single submitter ⚠
p.Glu1434Ala Single submitter ⚠
p.Glu1849Asp Single submitter ⚠
p.Glu1865Gly Single submitter ⚠
p.Glu1872Gln Single submitter ⚠
p.Glu2036Asp Single submitter ⚠
p.Glu2039Asp Single submitter ⚠
p.Glu284Asp Single submitter ⚠
p.Glu734Gln Single submitter ⚠
p.Glu772Asp Single submitter ⚠
p.Glu993Gly Single submitter ⚠
p.Gly1047Arg Single submitter ⚠
p.Gly1047Ser Single submitter ⚠
p.Gly1184Ser Single submitter ⚠
p.Gly1352Val Single submitter ⚠
p.Gly1505Asp Single submitter ⚠
p.Gly1505Val Single submitter ⚠
p.Gly211Asp Single submitter ⚠
p.Gly2139Ser Single submitter ⚠
p.Gly234Ser Single submitter ⚠
p.Gly591Asp Single submitter ⚠
p.Gly764Val Single submitter ⚠
p.His1063Arg Single submitter ⚠
p.His1174Tyr Single submitter ⚠
p.His1266Gln Single submitter ⚠
p.His1353Arg Single submitter ⚠
p.His1447Tyr Single submitter ⚠
p.His156Arg Single submitter ⚠
p.His1718Tyr Single submitter ⚠
p.His382Gln Single submitter ⚠
p.His762Arg Single submitter ⚠
p.His852Tyr Single submitter ⚠
p.His986Pro Single submitter ⚠
p.Ile1009Leu Single submitter ⚠
p.Ile1036Met Single submitter ⚠
p.Ile1540Asn Single submitter ⚠
p.Ile1728Val Single submitter ⚠
p.Ile174Thr Single submitter ⚠
p.Ile1762Val Single submitter ⚠
p.Ile1775Val Single submitter ⚠
p.Ile1803Met Single submitter ⚠
p.Ile1838Val Single submitter ⚠
p.Ile2102Thr Single submitter ⚠
p.Ile2118Val Single submitter ⚠
p.Ile2230Val Single submitter ⚠
p.Ile415Val Single submitter ⚠
p.Ile447Phe Single submitter ⚠
p.Ile750Val Single submitter ⚠
p.Ile943Val Single submitter ⚠
p.Ile945Val Single submitter ⚠
p.Leu105Val Single submitter ⚠
p.Leu1126Phe Single submitter ⚠
p.Leu127Met Single submitter ⚠
p.Leu12Val Single submitter ⚠
p.Leu1308Pro Single submitter ⚠
p.Leu1421Val Single submitter ⚠
p.Leu1985Pro Single submitter ⚠
p.Leu2145Pro Single submitter ⚠
p.Leu261Ile Single submitter ⚠
p.Leu303Pro Single submitter ⚠
p.Leu356Phe Single submitter ⚠
p.Leu3Val Single submitter ⚠
p.Leu434His Single submitter ⚠
p.Leu589Trp Single submitter ⚠
p.Leu658Val Single submitter ⚠
p.Leu801Phe Single submitter ⚠
p.Leu819Phe Single submitter ⚠
p.Leu838Pro Single submitter ⚠
p.Leu973Val Single submitter ⚠
p.Leu976Val Single submitter ⚠
p.Lys1020Arg Single submitter ⚠
p.Lys1183Thr Single submitter ⚠
p.Lys1320Arg Single submitter ⚠
p.Lys185Arg Single submitter ⚠
p.Lys250Asn Single submitter ⚠
p.Lys250Glu Single submitter ⚠
p.Lys577Glu Single submitter ⚠
p.Met1077Ile Single submitter ⚠
p.Met1535Val Single submitter ⚠
p.Met1672Val Single submitter ⚠
p.Met1835Ile Single submitter ⚠
p.Met646Thr Single submitter ⚠
p.Met646Val Single submitter ⚠
p.Met676Thr Single submitter ⚠
p.Phe1091Leu Single submitter ⚠
p.Phe1549Tyr Single submitter ⚠
p.Phe877Leu Single submitter ⚠
p.Pro1078Ala Single submitter ⚠
p.Pro1124Ser Single submitter ⚠
p.Pro1177Arg Single submitter ⚠
p.Pro124Leu Single submitter ⚠
p.Pro1273His Single submitter ⚠
p.Pro1273Ser Single submitter ⚠
p.Pro1513Ala Single submitter ⚠
p.Pro245Ser Single submitter ⚠
p.Pro413Leu Single submitter ⚠
p.Pro438Thr Single submitter ⚠
p.Pro551Ser Single submitter ⚠
p.Pro724His Single submitter ⚠
p.Pro725Thr Single submitter ⚠
p.Pro805Leu Single submitter ⚠
p.Pro865Ala Single submitter ⚠
p.Ser1088Leu Single submitter ⚠
p.Ser1252Leu Single submitter ⚠
p.Ser1378Asn Single submitter ⚠
p.Ser168Gly Single submitter ⚠
p.Ser1763Ala Single submitter ⚠
p.Ser178Asn Single submitter ⚠
p.Ser1977Asn Single submitter ⚠
p.Ser1977Cys Single submitter ⚠
p.Ser2199Leu Single submitter ⚠
p.Ser2229Phe Single submitter ⚠
p.Ser346Asn Single submitter ⚠
p.Ser359Gly Single submitter ⚠
p.Ser400Gly Single submitter ⚠
p.Ser424Phe Single submitter ⚠
p.Ser547Pro Single submitter ⚠
p.Ser671Cys Single submitter ⚠
p.Ser736Asn Single submitter ⚠
p.Ser758Thr Single submitter ⚠
p.Ser980Phe Single submitter ⚠
p.Ser998Arg Single submitter ⚠
p.Thr1094Ala Single submitter ⚠
p.Thr1094Arg Single submitter ⚠
p.Thr1398Ala Single submitter ⚠
p.Thr1422Ile Single submitter ⚠
p.Thr1430Ala Single submitter ⚠
p.Thr1460Ala Single submitter ⚠
p.Thr150Ile Single submitter ⚠
p.Thr1550Ile Single submitter ⚠
p.Thr1618Lys Single submitter ⚠
p.Thr1643Ala Single submitter ⚠
p.Thr1684Ala Single submitter ⚠
p.Thr2187Ile Single submitter ⚠
p.Thr218Ile Single submitter ⚠
p.Thr286Pro Single submitter ⚠
p.Thr302Ile Single submitter ⚠
p.Thr323Ile Single submitter ⚠
p.Thr437Ala Single submitter ⚠
p.Thr437Ile Single submitter ⚠
p.Thr537Ile Single submitter ⚠
p.Thr585Ala Single submitter ⚠
p.Thr625Met Single submitter ⚠
p.Thr685Ala Single submitter ⚠
p.Thr965Ala Single submitter ⚠
p.Trp1011Arg Single submitter ⚠
p.Trp817Gly Single submitter ⚠
p.Tyr651Cys Single submitter ⚠
p.Tyr935Ser Single submitter ⚠
p.Val1046Met Single submitter ⚠
p.Val10Ile Single submitter ⚠
p.Val1383Met Single submitter ⚠
p.Val1391Ile Single submitter ⚠
p.Val1598Ala Single submitter ⚠
p.Val2010Met Single submitter ⚠
p.Val224Leu Single submitter ⚠
p.Val252Ile Single submitter ⚠
p.Val257Met Single submitter ⚠
p.Val372Leu Single submitter ⚠
p.Val474Leu Single submitter ⚠
p.Val497Ala Single submitter ⚠
p.Trp1129Ter No assertion criteria prostate cancer