CLPTM1L — 108 ClinVar variants
All ClinVar germline CLPTM1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
8 Benign · 17 Likely benign · 83 Uncertain significance
Full CLPTM1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLPTM1L p.Ala113Thr Uncertain significance Single submitter
- CLPTM1L p.Ala272Val Uncertain significance Single submitter
- CLPTM1L p.Ala295Val Uncertain significance Single submitter
- CLPTM1L p.Ala531Thr Uncertain significance Single submitter
- CLPTM1L p.Ala534Val Uncertain significance Single submitter
- CLPTM1L p.Ala67Asp Uncertain significance Single submitter
- CLPTM1L p.Arg173Gln Uncertain significance Single submitter
- CLPTM1L p.Arg221His Uncertain significance Single submitter
- CLPTM1L p.Arg329His Uncertain significance Single submitter
- CLPTM1L p.Arg518His Uncertain significance Single submitter
- CLPTM1L p.Arg533Gln Uncertain significance Single submitter
- CLPTM1L p.Asn41Ser Uncertain significance Single submitter
- CLPTM1L p.Asn76Asp Uncertain significance Single submitter
- CLPTM1L p.Asp242Asn Uncertain significance Single submitter
- CLPTM1L p.Asp499Val Uncertain significance Single submitter
- CLPTM1L p.Asp500Asn Uncertain significance Single submitter
- CLPTM1L p.Cys24Phe Uncertain significance Single submitter
- CLPTM1L p.Cys412Ser Uncertain significance Single submitter
- CLPTM1L p.Gln151Arg Uncertain significance Single submitter
- CLPTM1L p.Gln256Arg Uncertain significance Single submitter
- CLPTM1L p.Gln382Glu Uncertain significance Single submitter
- CLPTM1L p.Glu139Gly Uncertain significance Single submitter
- CLPTM1L p.Glu154Lys Uncertain significance Single submitter
- CLPTM1L p.Glu156Gln Uncertain significance Single submitter
- CLPTM1L p.Glu234Lys Uncertain significance Single submitter
- CLPTM1L p.Glu388Lys Uncertain significance Single submitter
- CLPTM1L p.Gly146Arg Uncertain significance Single submitter
- CLPTM1L p.Gly14Val Uncertain significance Single submitter
- CLPTM1L p.Gly187Arg Uncertain significance Single submitter
- CLPTM1L p.Gly376Ser Uncertain significance Single submitter
- CLPTM1L p.Gly38Ser Uncertain significance Single submitter
- CLPTM1L p.Gly439Glu Uncertain significance Single submitter
- CLPTM1L p.His64Pro Uncertain significance Single submitter
- CLPTM1L p.Ile319Val Uncertain significance Single submitter
- CLPTM1L p.Leu377Pro Uncertain significance Single submitter
- CLPTM1L p.Leu421Pro Uncertain significance Single submitter
- CLPTM1L p.Leu65Pro Uncertain significance Single submitter
- CLPTM1L p.Lys392Glu Uncertain significance Single submitter
- CLPTM1L p.Lys517Glu Uncertain significance Single submitter
- CLPTM1L p.Met134Val Uncertain significance Single submitter
- CLPTM1L p.Met370Val Uncertain significance Single submitter
- CLPTM1L p.Met401Thr Uncertain significance Single submitter
- CLPTM1L p.Phe109Cys Uncertain significance Single submitter
- CLPTM1L p.Phe292Val Uncertain significance Single submitter
- CLPTM1L p.Pro159Leu Uncertain significance Single submitter
- CLPTM1L p.Pro352Leu Uncertain significance Single submitter
- CLPTM1L p.Pro45Ser Uncertain significance Single submitter
- CLPTM1L p.Ser346Gly Uncertain significance Single submitter
- CLPTM1L p.Ser6Gly Uncertain significance Single submitter
- CLPTM1L p.Thr103Met Uncertain significance Single submitter
- CLPTM1L p.Thr150Ile Uncertain significance Single submitter
- CLPTM1L p.Thr385Ser Uncertain significance Single submitter
- CLPTM1L p.Thr98Met Uncertain significance Single submitter
- CLPTM1L p.Trp328Ser Uncertain significance Single submitter
- CLPTM1L p.Tyr418Cys Uncertain significance Single submitter
- CLPTM1L p.Tyr506Cys Uncertain significance Single submitter
- CLPTM1L p.Val115Ala Uncertain significance Single submitter
- CLPTM1L p.Val127Leu Uncertain significance Single submitter
- CLPTM1L p.Val178Leu Uncertain significance Single submitter
- CLPTM1L p.Val18Gly Uncertain significance Single submitter
- CLPTM1L p.Val21Ala Uncertain significance Single submitter
- CLPTM1L p.Val334Met Uncertain significance Single submitter
- CLPTM1L p.Val515Met Uncertain significance Single submitter
- CLPTM1L p.Val74Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CLPTM1L p.Ala294Thr Uncertain significance Single submitter
- CLPTM1L p.Arg533Trp Uncertain significance Single submitter
- CLPTM1L p.Glu343Lys Uncertain significance Single submitter
- CLPTM1L p.Glu528Lys Uncertain significance Single submitter
- CLPTM1L p.Leu411Phe Uncertain significance Single submitter
- CLPTM1L p.Lys324Asn Uncertain significance Single submitter
- CLPTM1L p.Phe286Leu Uncertain significance Single submitter
- CLPTM1L p.Phe302Leu Uncertain significance Single submitter
- CLPTM1L p.Phe523Ser Uncertain significance Single submitter
- CLPTM1L p.Ser387Gly Uncertain significance Single submitter
- CLPTM1L p.Val194Ala Uncertain significance Single submitter
- CLPTM1L p.Val26Leu Uncertain significance Single submitter
- CLPTM1L p.Val275Met Uncertain significance Single submitter
- CLPTM1L p.Val349Leu Uncertain significance Single submitter
- CLPTM1L p.Val355Ala Uncertain significance Single submitter
- CLPTM1L p.Val501Met Uncertain significance Single submitter
-
CLPTM1L p.Arg250His
Uncertain significance
No assertion criteria
prostate cancer
All CLPTM1L variants
Benign 8
- c.1532+1051G>T Single submitter
- p.Ala258= No assertion criteria CLPTM1L-related disorder
- p.Arg230Cys No assertion criteria CLPTM1L-related disorder
- p.Asn438= No assertion criteria CLPTM1L-related disorder
- p.Gln264= No assertion criteria CLPTM1L-related disorder
- p.Glu380Lys No assertion criteria CLPTM1L-related disorder
- p.Gly38= No assertion criteria CLPTM1L-related disorder
- p.Val77= No assertion criteria CLPTM1L-related disorder
Likely benign 17
- p.Ala180Val Single submitter
- p.Ile141Val Single submitter
- p.Ile372Val Single submitter
- p.Val115Ile Single submitter
- p.Val413Ile Single submitter
- c.1080+9C>T No assertion criteria CLPTM1L-related disorder
- c.1281-8C>T No assertion criteria CLPTM1L-related disorder
- c.1532+7G>A No assertion criteria CLPTM1L-related disorder
- c.797-10dup No assertion criteria CLPTM1L-related disorder
- p.Asn101= No assertion criteria CLPTM1L-related disorder
- p.His112= No assertion criteria CLPTM1L-related disorder
- p.Ile153= No assertion criteria CLPTM1L-related disorder
- p.Phe331= No assertion criteria CLPTM1L-related disorder
- p.Thr103= No assertion criteria CLPTM1L-related disorder
- p.Thr537= No assertion criteria CLPTM1L-related disorder
- p.Val293= No assertion criteria CLPTM1L-related disorder
- p.Val364= No assertion criteria CLPTM1L-related disorder
Uncertain significance 83
- p.Ala113Thr Single submitter ⚠
- p.Ala272Val Single submitter ⚠
- p.Ala294Thr Single submitter ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala531Thr Single submitter ⚠
- p.Ala534Val Single submitter ⚠
- p.Ala67Asp Single submitter ⚠
- p.Arg173Gln Single submitter ⚠
- p.Arg221His Single submitter ⚠
- p.Arg329His Single submitter ⚠
- p.Arg518His Single submitter ⚠
- p.Arg533Gln Single submitter ⚠
- p.Arg533Trp Single submitter ⚠
- p.Asn41Ser Single submitter ⚠
- p.Asn76Asp Single submitter ⚠
- p.Asp242Asn Single submitter ⚠
- p.Asp499Val Single submitter ⚠
- p.Asp500Asn Single submitter ⚠
- p.Cys24Phe Single submitter ⚠
- p.Cys412Ser Single submitter ⚠
- p.Gln151Arg Single submitter ⚠
- p.Gln256Arg Single submitter ⚠
- p.Gln382Glu Single submitter ⚠
- p.Glu139Gly Single submitter ⚠
- p.Glu154Lys Single submitter ⚠
- p.Glu156Gln Single submitter ⚠
- p.Glu234Lys Single submitter ⚠
- p.Glu343Lys Single submitter ⚠
- p.Glu388Lys Single submitter ⚠
- p.Glu528Lys Single submitter ⚠
- p.Gly146Arg Single submitter ⚠
- p.Gly14Val Single submitter ⚠
- p.Gly187Arg Single submitter ⚠
- p.Gly376Ser Single submitter ⚠
- p.Gly38Ser Single submitter ⚠
- p.Gly439Glu Single submitter ⚠
- p.His64Pro Single submitter ⚠
- p.Ile319Val Single submitter ⚠
- p.Leu377Pro Single submitter ⚠
- p.Leu411Phe Single submitter ⚠
- p.Leu421Pro Single submitter ⚠
- p.Leu65Pro Single submitter ⚠
- p.Lys324Asn Single submitter ⚠
- p.Lys392Glu Single submitter ⚠
- p.Lys517Glu Single submitter ⚠
- p.Met134Val Single submitter ⚠
- p.Met370Val Single submitter ⚠
- p.Met401Thr Single submitter ⚠
- p.Phe109Cys Single submitter ⚠
- p.Phe286Leu Single submitter ⚠
- p.Phe292Val Single submitter ⚠
- p.Phe302Leu Single submitter ⚠
- p.Phe523Ser Single submitter ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro352Leu Single submitter ⚠
- p.Pro45Ser Single submitter ⚠
- p.Ser346Gly Single submitter ⚠
- p.Ser387Gly Single submitter ⚠
- p.Ser6Gly Single submitter ⚠
- p.Thr103Met Single submitter ⚠
- p.Thr150Ile Single submitter ⚠
- p.Thr385Ser Single submitter ⚠
- p.Thr98Met Single submitter ⚠
- p.Trp328Ser Single submitter ⚠
- p.Tyr197Cys Single submitter
- p.Tyr285His Single submitter
- p.Tyr418Cys Single submitter ⚠
- p.Tyr506Cys Single submitter ⚠
- p.Val115Ala Single submitter ⚠
- p.Val127Leu Single submitter ⚠
- p.Val178Leu Single submitter ⚠
- p.Val18Gly Single submitter ⚠
- p.Val194Ala Single submitter ⚠
- p.Val21Ala Single submitter ⚠
- p.Val26Leu Single submitter ⚠
- p.Val275Met Single submitter ⚠
- p.Val334Met Single submitter ⚠
- p.Val349Leu Single submitter ⚠
- p.Val355Ala Single submitter ⚠
- p.Val501Met Single submitter ⚠
- p.Val515Met Single submitter ⚠
- p.Val74Leu Single submitter ⚠
- p.Arg250His No assertion criteria prostate cancer ⚠