CLPTM1 — 121 ClinVar variants
All ClinVar germline CLPTM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
12 Benign · 22 Likely benign · 87 Uncertain significance
Full CLPTM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CLPTM1 p.Ile279Val
Uncertain significance
Multiple submitters
CLPTM1-related disorder
- CLPTM1 p.Ala10Pro Uncertain significance Single submitter
- CLPTM1 p.Ala10Ser Uncertain significance Single submitter
- CLPTM1 p.Ala120Thr Uncertain significance Single submitter
- CLPTM1 p.Ala17Gly Uncertain significance Single submitter
- CLPTM1 p.Ala2Val Uncertain significance Single submitter
- CLPTM1 p.Ala37Thr Uncertain significance Single submitter
- CLPTM1 p.Ala37Val Uncertain significance Single submitter
- CLPTM1 p.Ala3Val Uncertain significance Single submitter
- CLPTM1 p.Ala475Ser Uncertain significance Single submitter
- CLPTM1 p.Ala609Thr Uncertain significance Single submitter
- CLPTM1 p.Ala663Gly Uncertain significance Single submitter
- CLPTM1 p.Ala78Ser Uncertain significance Single submitter
- CLPTM1 p.Ala88Ser Uncertain significance Single submitter
- CLPTM1 p.Arg180Gln Uncertain significance Single submitter
- CLPTM1 p.Arg204Gln Uncertain significance Single submitter
- CLPTM1 p.Arg394Leu Uncertain significance Single submitter
- CLPTM1 p.Arg477Gln Uncertain significance Single submitter
- CLPTM1 p.Arg585Pro Uncertain significance Single submitter
- CLPTM1 p.Arg589His Uncertain significance Single submitter
- CLPTM1 p.Arg74Cys Uncertain significance Single submitter
- CLPTM1 p.Arg74His Uncertain significance Single submitter
- CLPTM1 p.Arg90His Uncertain significance Single submitter
- CLPTM1 p.Asn119Ser Uncertain significance Single submitter
- CLPTM1 p.Asn328Ser Uncertain significance Single submitter
- CLPTM1 p.Asn377Ser Uncertain significance Single submitter
- CLPTM1 p.Asn596Ser Uncertain significance Single submitter
- CLPTM1 p.Asp130Asn Uncertain significance Single submitter
- CLPTM1 p.Asp153Asn Uncertain significance Single submitter
- CLPTM1 p.Asp459Gly Uncertain significance Single submitter
- CLPTM1 p.Asp8Glu Uncertain significance Single submitter
- CLPTM1 p.Glu140Lys Uncertain significance Single submitter
- CLPTM1 p.Glu147Lys Uncertain significance Single submitter
- CLPTM1 p.Glu296Lys Uncertain significance Single submitter
- CLPTM1 p.Glu445Asp Uncertain significance Single submitter
- CLPTM1 p.Glu613Lys Uncertain significance Single submitter
- CLPTM1 p.Gly134Ser Uncertain significance Single submitter
- CLPTM1 p.Gly18Ala Uncertain significance Single submitter
- CLPTM1 p.Gly20Asp Uncertain significance Single submitter
- CLPTM1 p.Gly23Asp Uncertain significance Single submitter
- CLPTM1 p.Gly32Arg Uncertain significance Single submitter
- CLPTM1 p.Gly399Ser Uncertain significance Single submitter
- CLPTM1 p.Gly488Ala Uncertain significance Single submitter
- CLPTM1 p.Gly619Ala Uncertain significance Single submitter
- CLPTM1 p.Gly86Arg Uncertain significance Single submitter
- CLPTM1 p.Gly9Glu Uncertain significance Single submitter
- CLPTM1 p.Ile154Val Uncertain significance Single submitter
- CLPTM1 p.Ile244Val Uncertain significance Single submitter
- CLPTM1 p.Ile365Val Uncertain significance Single submitter
- CLPTM1 p.Ile69Val Uncertain significance Single submitter
- CLPTM1 p.Leu428Phe Uncertain significance Single submitter
- CLPTM1 p.Leu428Val Uncertain significance Single submitter
- CLPTM1 p.Phe397Val Uncertain significance Single submitter
- CLPTM1 p.Pro35Leu Uncertain significance Single submitter
- CLPTM1 p.Pro45Leu Uncertain significance Single submitter
- CLPTM1 p.Pro605Leu Uncertain significance Single submitter
- CLPTM1 p.Pro645Arg Uncertain significance Single submitter
- CLPTM1 p.Ser142Leu Uncertain significance Single submitter
- CLPTM1 p.Ser21Thr Uncertain significance Single submitter
- CLPTM1 p.Ser422Ile Uncertain significance Single submitter
- CLPTM1 p.Thr121Ala Uncertain significance Single submitter
- CLPTM1 p.Thr39Ile Uncertain significance Single submitter
- CLPTM1 p.Thr415Ile Uncertain significance Single submitter
- CLPTM1 p.Thr435Ser Uncertain significance Single submitter
- CLPTM1 p.Thr593Asn Uncertain significance Single submitter
- CLPTM1 p.Thr622Arg Uncertain significance Single submitter
- CLPTM1 p.Tyr284His Uncertain significance Single submitter
- CLPTM1 p.Tyr581Cys Uncertain significance Single submitter
- CLPTM1 p.Val14Met Uncertain significance Single submitter
- CLPTM1 p.Val158Ile Uncertain significance Single submitter
- CLPTM1 p.Val234Met Uncertain significance Single submitter
- CLPTM1 p.Val305Ile Uncertain significance Single submitter
- CLPTM1 p.Val492Ile Uncertain significance Single submitter
- CLPTM1 p.Val611Met Uncertain significance Single submitter
-
CLPTM1 p.Gly18Glu
Uncertain significance
No assertion criteria
CLPTM1-related disorder
Predictors split 9
The independent predictors disagree with each other — read with care.
- CLPTM1 p.Arg186Cys Benign Multiple submitters
- CLPTM1 p.Arg180Trp Uncertain significance Single submitter
- CLPTM1 p.Arg454Cys Uncertain significance Single submitter
- CLPTM1 p.Glu465Lys Uncertain significance Single submitter
- CLPTM1 p.His250Gln Uncertain significance Single submitter
- CLPTM1 p.Ile425Thr Uncertain significance Single submitter
- CLPTM1 p.Phe64Leu Uncertain significance Single submitter
- CLPTM1 p.Pro177Ala Uncertain significance Single submitter
-
CLPTM1 p.Asn295Ser
Uncertain significance
No assertion criteria
CLPTM1-related disorder
All CLPTM1 variants
Benign 12
- c.1133-18C>G Multiple submitters
- p.Ala88= Multiple submitters
- p.Arg186Cys Multiple submitters ⚠
- p.Leu428= Multiple submitters
- p.Phe115= Multiple submitters
- p.Pro45= Multiple submitters
- p.Pro85= Multiple submitters
- p.Leu486= Single submitter
- c.468+5G>A No assertion criteria CLPTM1-related disorder
- p.Ala548= No assertion criteria CLPTM1-related disorder
- p.Leu479= No assertion criteria CLPTM1-related disorder
- p.Tyr478Cys No assertion criteria CLPTM1-related disorder
Likely benign 22
- p.Ala612= Single submitter
- p.Ala7= Single submitter
- p.Phe518= Single submitter
- c.1039-9C>T No assertion criteria CLPTM1-related disorder
- c.1724-6C>T No assertion criteria CLPTM1-related disorder
- c.30+1G>T No assertion criteria CLPTM1-related disorder
- c.73-5C>A No assertion criteria CLPTM1-related disorder
- p.Ala2= No assertion criteria CLPTM1-related disorder
- p.Ala218= No assertion criteria CLPTM1-related disorder
- p.Ala299= No assertion criteria CLPTM1-related disorder
- p.Ala83= No assertion criteria CLPTM1-related disorder
- p.Arg304= No assertion criteria CLPTM1-related disorder
- p.Arg441Gln No assertion criteria CLPTM1-related disorder
- p.Arg90= No assertion criteria CLPTM1-related disorder
- p.Asp219= No assertion criteria CLPTM1-related disorder
- p.Ile66= No assertion criteria CLPTM1-related disorder
- p.Leu334= No assertion criteria CLPTM1-related disorder
- p.Phe268= No assertion criteria CLPTM1-related disorder
- p.Ser650= No assertion criteria CLPTM1-related disorder
- p.Thr631= No assertion criteria CLPTM1-related disorder
- p.Tyr284= No assertion criteria CLPTM1-related disorder
- p.Val590= No assertion criteria CLPTM1-related disorder
Uncertain significance 87
- p.Ile279Val Multiple submitters CLPTM1-related disorder ⚠
- c.587-1G>A Single submitter
- p.Ala10Pro Single submitter ⚠
- p.Ala10Ser Single submitter ⚠
- p.Ala120Thr Single submitter ⚠
- p.Ala17Gly Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala475Ser Single submitter ⚠
- p.Ala609Thr Single submitter ⚠
- p.Ala663Gly Single submitter ⚠
- p.Ala78Ser Single submitter ⚠
- p.Ala88Ser Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg180Trp Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg394Leu Single submitter ⚠
- p.Arg454Cys Single submitter ⚠
- p.Arg477Gln Single submitter ⚠
- p.Arg477Trp Single submitter
- p.Arg585Pro Single submitter ⚠
- p.Arg589His Single submitter ⚠
- p.Arg74Cys Single submitter ⚠
- p.Arg74His Single submitter ⚠
- p.Arg90His Single submitter ⚠
- p.Asn119Ser Single submitter ⚠
- p.Asn328Ser Single submitter ⚠
- p.Asn377Ser Single submitter ⚠
- p.Asn596Ser Single submitter ⚠
- p.Asp130Asn Single submitter ⚠
- p.Asp153Asn Single submitter ⚠
- p.Asp459Gly Single submitter ⚠
- p.Asp8Glu Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu147Lys Single submitter ⚠
- p.Glu296Lys Single submitter ⚠
- p.Glu445Asp Single submitter ⚠
- p.Glu465Lys Single submitter ⚠
- p.Glu613Lys Single submitter ⚠
- p.Gly134Ser Single submitter ⚠
- p.Gly18Ala Single submitter ⚠
- p.Gly20Asp Single submitter ⚠
- p.Gly23Asp Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly399Ser Single submitter ⚠
- p.Gly488Ala Single submitter ⚠
- p.Gly619Ala Single submitter ⚠
- p.Gly86Arg Single submitter ⚠
- p.Gly9Glu Single submitter ⚠
- p.His250Gln Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile244Val Single submitter ⚠
- p.Ile365Val Single submitter ⚠
- p.Ile425Thr Single submitter ⚠
- p.Ile69Val Single submitter ⚠
- p.Leu428Phe Single submitter ⚠
- p.Leu428Val Single submitter ⚠
- p.Phe397Val Single submitter ⚠
- p.Phe64Leu Single submitter ⚠
- p.Pro155Leu Single submitter CLPTM1-related disorder
- p.Pro177Ala Single submitter ⚠
- p.Pro35Leu Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Pro605Leu Single submitter ⚠
- p.Pro645Arg Single submitter ⚠
- p.Ser142Leu Single submitter ⚠
- p.Ser21Thr Single submitter ⚠
- p.Ser422Ile Single submitter ⚠
- p.Thr121Ala Single submitter ⚠
- p.Thr39Ile Single submitter ⚠
- p.Thr415Ile Single submitter ⚠
- p.Thr435Ser Single submitter ⚠
- p.Thr593Asn Single submitter ⚠
- p.Thr622Arg Single submitter ⚠
- p.Tyr284His Single submitter ⚠
- p.Tyr581Cys Single submitter ⚠
- p.Val14Met Single submitter ⚠
- p.Val158Ile Single submitter ⚠
- p.Val234Met Single submitter ⚠
- p.Val305Ile Single submitter ⚠
- p.Val418Met Single submitter
- p.Val492Ile Single submitter ⚠
- p.Val611Met Single submitter ⚠
- p.Asn295Ser No assertion criteria CLPTM1-related disorder ⚠
- p.Gly18Glu No assertion criteria CLPTM1-related disorder ⚠