TARBP1 — 216 ClinVar variants

All ClinVar germline TARBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →

1 Conflicting · 2 Benign · 10 Likely benign · 203 Uncertain significance

Full TARBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 197

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.

TARBP1 p.Lys1122Arg Conflicting Single submitter

Predictors lean, ClinVar uncertain 182

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 182

Predictors split 14

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

All TARBP1 variants

Conflicting classifications of pathogenicity 1

p.Lys1122Arg Single submitter ⚠

Benign 2

p.Asn1202= Multiple submitters
p.Asp513Gly Multiple submitters

Likely benign 10

p.Arg475Gln Single submitter
p.Asn1281Ser Single submitter
p.Gln789Arg Single submitter
p.Ile1074Val Single submitter
p.Ile1471= Single submitter
p.Lys1403Glu Single submitter
p.Pro917= Single submitter
p.Thr1299Ser Single submitter
p.Thr909Ala Single submitter
p.Val1300Met Single submitter

Uncertain significance 203

p.Val809Ala Multiple submitters ⚠
p.Ala1008Thr Single submitter ⚠
p.Ala1142Ser Single submitter ⚠
p.Ala1329Thr Single submitter ⚠
p.Ala1425Gly Single submitter ⚠
p.Ala1425Val Single submitter ⚠
p.Ala1547Thr Single submitter ⚠
p.Ala278Ser Single submitter ⚠
p.Ala284Gly Single submitter ⚠
p.Ala300Asp Single submitter ⚠
p.Ala361Thr Single submitter ⚠
p.Ala425Val Single submitter ⚠
p.Ala633Thr Single submitter ⚠
p.Ala6Thr Single submitter ⚠
p.Ala786Pro Single submitter ⚠
p.Ala786Val Single submitter ⚠
p.Ala856Ser Single submitter ⚠
p.Ala856Val Single submitter ⚠
p.Ala993Val Single submitter ⚠
p.Arg1080Lys Single submitter ⚠
p.Arg1081His Single submitter ⚠
p.Arg1167Gly Single submitter ⚠
p.Arg1194Ser Single submitter ⚠
p.Arg1287Pro Single submitter ⚠
p.Arg1338His Single submitter ⚠
p.Arg1365His Single submitter ⚠
p.Arg1382Gly Single submitter ⚠
p.Arg1453Gly Single submitter ⚠
p.Arg1453His Single submitter ⚠
p.Arg1593Cys Single submitter ⚠
p.Arg283Gln Single submitter ⚠
p.Arg290Thr Single submitter ⚠
p.Arg475Trp Single submitter ⚠
p.Arg567Gln Single submitter ⚠
p.Arg580Cys Single submitter ⚠
p.Arg580His Single submitter ⚠
p.Arg664Trp Single submitter ⚠
p.Arg750His Single submitter ⚠
p.Asn1281His Single submitter ⚠
p.Asn1331Ile Single submitter ⚠
p.Asn1575Lys Single submitter ⚠
p.Asn310Lys Single submitter ⚠
p.Asn355Ser Single submitter ⚠
p.Asn661Ser Single submitter ⚠
p.Asn680Ser Single submitter ⚠
p.Asn763Tyr Single submitter ⚠
p.Asn774Lys Single submitter ⚠
p.Asn848Asp Single submitter ⚠
p.Asn982Ser Single submitter ⚠
p.Asn990Ile Single submitter ⚠
p.Asp1088Glu Single submitter ⚠
p.Asp1193Gly Single submitter ⚠
p.Asp1310Glu Single submitter ⚠
p.Asp1422Glu Single submitter ⚠
p.Asp1443Asn Single submitter ⚠
p.Asp277Gly Single submitter ⚠
p.Asp301Gly Single submitter ⚠
p.Asp577Gly Single submitter ⚠
p.Asp672Asn Single submitter ⚠
p.Asp672His Single submitter ⚠
p.Asp942Gly Single submitter ⚠
p.Cys368Phe Single submitter ⚠
p.Cys483Phe Single submitter
p.Cys691Ser Single submitter ⚠
p.Cys950Ser Single submitter ⚠
p.Gln1045His Single submitter ⚠
p.Gln1259Glu Single submitter ⚠
p.Gln1578His Single submitter ⚠
p.Gln1579Leu Single submitter ⚠
p.Gln1589Arg Single submitter ⚠
p.Gln307Arg Single submitter ⚠
p.Gln561Arg Single submitter ⚠
p.Gln807Glu Single submitter ⚠
p.Gln943Glu Single submitter ⚠
p.Glu1307Lys Single submitter ⚠
p.Glu1420Lys Single submitter ⚠
p.Glu1559Gly Single submitter ⚠
p.Glu319Asp Single submitter ⚠
p.Glu401Gly Single submitter ⚠
p.Glu623Gln Single submitter ⚠
p.Glu713Ala Single submitter ⚠
p.Glu799Asp Single submitter ⚠
p.Glu916Ala Single submitter ⚠
p.Gly1057Glu Single submitter ⚠
p.Gly1190Glu Single submitter ⚠
p.Gly1328Arg Single submitter ⚠
p.Gly1415Asp Single submitter ⚠
p.Gly1537Asp Single submitter
p.Gly299Arg Single submitter ⚠
p.Gly395Asp Single submitter ⚠
p.Gly504Ser Single submitter ⚠
p.Gly880Glu Single submitter ⚠
p.His1342Asn Single submitter ⚠
p.His1349Gln Single submitter ⚠
p.His398Arg Single submitter ⚠
p.His765Arg Single submitter ⚠
p.His904Pro Single submitter ⚠
p.Ile1006Val Single submitter ⚠
p.Ile1031Val Single submitter ⚠
p.Ile1465Thr Single submitter ⚠
p.Ile1471Met Single submitter ⚠
p.Ile1500Met Single submitter ⚠
p.Ile1541Met Single submitter ⚠
p.Ile1572Val Single submitter ⚠
p.Ile440Thr Single submitter ⚠
p.Ile595Leu Single submitter ⚠
p.Ile595Thr Single submitter ⚠
p.Ile822Val Single submitter ⚠
p.Ile889Val Single submitter ⚠
p.Ile907Leu Single submitter ⚠
p.Ile977Met Single submitter ⚠
p.Leu1136Phe Single submitter ⚠
p.Leu1164Ile Single submitter ⚠
p.Leu1177Val Single submitter ⚠
p.Leu1219Phe Single submitter ⚠
p.Leu1351Phe Single submitter ⚠
p.Leu1401Phe Single submitter ⚠
p.Leu1477Ile Single submitter ⚠
p.Leu1480Val Single submitter
p.Leu1562Gln Single submitter ⚠
p.Leu370His Single submitter ⚠
p.Leu408Ile Single submitter ⚠
p.Leu509Val Single submitter ⚠
p.Leu534Phe Single submitter ⚠
p.Leu559Pro Single submitter ⚠
p.Leu5Phe Single submitter ⚠
p.Leu635Phe Single submitter ⚠
p.Leu641Met Single submitter ⚠
p.Leu692Phe Single submitter ⚠
p.Leu737His Single submitter ⚠
p.Leu791Arg Single submitter ⚠
p.Leu833Ile Single submitter ⚠
p.Leu833Val Single submitter ⚠
p.Leu939Val Single submitter ⚠
p.Lys1002Arg Single submitter ⚠
p.Lys1024Glu Single submitter ⚠
p.Lys1620Asn Single submitter ⚠
p.Lys282Glu Single submitter ⚠
p.Lys615Glu Single submitter ⚠
p.Met477Ile Single submitter ⚠
p.Met683Val Single submitter ⚠
p.Met794Leu Single submitter ⚠
p.Met812Val Single submitter ⚠
p.Met924Lys Single submitter ⚠
p.Met972Val Single submitter ⚠
p.Phe1180Ser Single submitter ⚠
p.Phe1200Cys Single submitter ⚠
p.Phe1309Cys Single submitter ⚠
p.Phe328Leu Single submitter ⚠
p.Phe721Ile Single submitter ⚠
p.Pro1474Leu Single submitter ⚠
p.Pro312Leu Single submitter ⚠
p.Pro445Ser Single submitter ⚠
p.Pro498Ala Single submitter ⚠
p.Pro628Thr Single submitter
p.Pro800Leu Single submitter ⚠
p.Pro865Leu Single submitter ⚠
p.Pro917Leu Single submitter ⚠
p.Pro920Ser Single submitter ⚠
p.Pro956Leu Single submitter
p.Ser1163Phe Single submitter ⚠
p.Ser1285Thr Single submitter ⚠
p.Ser1410Cys Single submitter ⚠
p.Ser1509Thr Single submitter ⚠
p.Ser1615Leu Single submitter ⚠
p.Ser392Tyr Single submitter ⚠
p.Ser429Thr Single submitter ⚠
p.Ser430Phe Single submitter ⚠
p.Ser594Pro Single submitter ⚠
p.Ser804Thr Single submitter ⚠
p.Ser832Cys Single submitter ⚠
p.Ser940Tyr Single submitter ⚠
p.Thr1033Ala Single submitter ⚠
p.Thr1175Ile Single submitter ⚠
p.Thr1246Met Single submitter ⚠
p.Thr1358Ser Single submitter
p.Thr1483Ile Single submitter ⚠
p.Thr405Ile Single submitter ⚠
p.Thr716Ala Single submitter ⚠
p.Thr726Ala Single submitter ⚠
p.Thr759Ile Single submitter ⚠
p.Thr850Ala Single submitter ⚠
p.Thr910Ile Single submitter ⚠
p.Trp1278Arg Single submitter ⚠
p.Trp3Arg Single submitter ⚠
p.Trp578Arg Single submitter ⚠
p.Trp988Arg Single submitter ⚠
p.Tyr1023His Single submitter ⚠
p.Tyr1115Phe Single submitter ⚠
p.Tyr1235His Single submitter ⚠
p.Tyr1289Cys Single submitter
p.Tyr403Cys Single submitter ⚠
p.Tyr457Phe Single submitter ⚠
p.Tyr533His Single submitter ⚠
p.Val1466Ile Single submitter ⚠
p.Val1519Met Single submitter ⚠
p.Val362Leu Single submitter ⚠
p.Val614Leu Single submitter ⚠
p.Val646Met Single submitter ⚠
p.Val810Met Single submitter ⚠
p.Val922Ile Single submitter ⚠
p.Val944Phe Single submitter ⚠
p.Val955Phe Single submitter ⚠