TNPO1 — 71 ClinVar variants
All ClinVar germline TNPO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
4 Benign · 8 Likely benign · 59 Uncertain significance
Full TNPO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TNPO1 p.Ala460Ser Uncertain significance Single submitter
- TNPO1 p.Ala474Val Uncertain significance Single submitter
- TNPO1 p.Ala528Thr Uncertain significance Single submitter
-
TNPO1 p.Arg178Cys
Uncertain significance
Single submitter
TNPO1-related disorder
- TNPO1 p.Arg344Trp Uncertain significance Single submitter
- TNPO1 p.Arg346His Uncertain significance Single submitter
- TNPO1 p.Asn635Ser Uncertain significance Single submitter
- TNPO1 p.Asn811Ser Uncertain significance Single submitter
- TNPO1 p.Asp369Val Uncertain significance Single submitter
- TNPO1 p.Asp53Tyr Uncertain significance Single submitter
- TNPO1 p.Gln453Arg Uncertain significance Single submitter
- TNPO1 p.Gln752Arg Uncertain significance Single submitter
- TNPO1 p.Glu365Asp Uncertain significance Single submitter
- TNPO1 p.Gly94Ser Uncertain significance Single submitter
- TNPO1 p.His220Arg Uncertain significance Single submitter
- TNPO1 p.Ile170Val Uncertain significance Single submitter
- TNPO1 p.Ile225Thr Uncertain significance Single submitter
- TNPO1 p.Ile372Thr Uncertain significance Single submitter
- TNPO1 p.Ile426Val Uncertain significance Single submitter
- TNPO1 p.Ile720Val Uncertain significance Single submitter
- TNPO1 p.Ile749Thr Uncertain significance Single submitter
- TNPO1 p.Ile837Val Uncertain significance Single submitter
- TNPO1 p.Leu282Ser Uncertain significance Single submitter
- TNPO1 p.Leu391Val Uncertain significance Single submitter
- TNPO1 p.Lys14Asn Uncertain significance Single submitter
- TNPO1 p.Met583Thr Uncertain significance Single submitter
- TNPO1 p.Met632Val Uncertain significance Single submitter
- TNPO1 p.Pro756Ala Uncertain significance Single submitter
- TNPO1 p.Pro887Ala Uncertain significance Single submitter
- TNPO1 p.Ser127Phe Uncertain significance Single submitter
- TNPO1 p.Ser143Gly Uncertain significance Single submitter
- TNPO1 p.Ser143Ile Uncertain significance Single submitter
- TNPO1 p.Ser194Asn Uncertain significance Single submitter
- TNPO1 p.Thr40Ile Uncertain significance Single submitter
- TNPO1 p.Thr484Met Uncertain significance Single submitter
- TNPO1 p.Thr72Ile Uncertain significance Single submitter
- TNPO1 p.Thr7Ser Uncertain significance Single submitter
- TNPO1 p.Thr827Ala Uncertain significance Single submitter
- TNPO1 p.Tyr150His Uncertain significance Single submitter
- TNPO1 p.Val300Ile Uncertain significance Single submitter
- TNPO1 p.Val732Phe Uncertain significance Single submitter
- TNPO1 p.Val789Ile Uncertain significance Single submitter
- TNPO1 p.Val836Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- TNPO1 p.Ala284Ser Uncertain significance Single submitter
- TNPO1 p.Asp457Asn Uncertain significance Single submitter
- TNPO1 p.Glu293Asp Uncertain significance Single submitter
- TNPO1 p.His417Tyr Uncertain significance Single submitter
- TNPO1 p.Ile120Val Uncertain significance Single submitter
- TNPO1 p.Ile720Thr Uncertain significance Single submitter
- TNPO1 p.Lys197Asn Uncertain significance Single submitter
All TNPO1 variants
Benign 4
- c.1303+7_1303+80del Single submitter
- c.355+8A>G No assertion criteria TNPO1-related disorder
- p.Ala739= No assertion criteria TNPO1-related disorder
- p.Pro306Ser No assertion criteria TNPO1-related disorder
Likely benign 8
- c.1304-10T>G No assertion criteria TNPO1-related disorder
- c.1529+9G>C No assertion criteria TNPO1-related disorder
- p.Ala159= No assertion criteria TNPO1-related disorder
- p.Ala848= No assertion criteria TNPO1-related disorder
- p.Ile120= No assertion criteria TNPO1-related disorder
- p.Leu556= No assertion criteria TNPO1-related disorder
- p.Ser339= No assertion criteria TNPO1-related disorder
- p.Thr533= No assertion criteria TNPO1-related disorder
Uncertain significance 59
- c.130-2A>G Single submitter
- p.Ala126Val Single submitter
- p.Ala284Ser Single submitter ⚠
- p.Ala460Ser Single submitter ⚠
- p.Ala474Val Single submitter ⚠
- p.Ala528Thr Single submitter ⚠
- p.Arg178Cys Single submitter TNPO1-related disorder ⚠
- p.Arg178His Single submitter
- p.Arg344Trp Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Asn635Ser Single submitter ⚠
- p.Asn811Ser Single submitter ⚠
- p.Asp277Glu Single submitter
- p.Asp369Val Single submitter ⚠
- p.Asp457Asn Single submitter ⚠
- p.Asp53Tyr Single submitter ⚠
- p.Gln453Arg Single submitter ⚠
- p.Gln752Arg Single submitter ⚠
- p.Glu293Asp Single submitter ⚠
- p.Glu365Asp Single submitter ⚠
- p.Gly94Ser Single submitter ⚠
- p.His220Arg Single submitter ⚠
- p.His417Tyr Single submitter ⚠
- p.His562Arg Single submitter
- p.Ile120Val Single submitter ⚠
- p.Ile170Val Single submitter ⚠
- p.Ile225Thr Single submitter ⚠
- p.Ile372Thr Single submitter ⚠
- p.Ile426Val Single submitter ⚠
- p.Ile720Thr Single submitter ⚠
- p.Ile720Val Single submitter ⚠
- p.Ile749Thr Single submitter ⚠
- p.Ile837Val Single submitter ⚠
- p.Leu282Ser Single submitter ⚠
- p.Leu391Val Single submitter ⚠
- p.Lys14Asn Single submitter ⚠
- p.Lys197Asn Single submitter ⚠
- p.Lys711Met Single submitter
- p.Met583Thr Single submitter ⚠
- p.Met632Val Single submitter ⚠
- p.Pro295Arg Single submitter
- p.Pro408Ala Single submitter
- p.Pro756Ala Single submitter ⚠
- p.Pro887Ala Single submitter ⚠
- p.Ser127Phe Single submitter ⚠
- p.Ser143Gly Single submitter ⚠
- p.Ser143Ile Single submitter ⚠
- p.Ser194Asn Single submitter ⚠
- p.Thr40Ile Single submitter ⚠
- p.Thr484Met Single submitter ⚠
- p.Thr72Ile Single submitter ⚠
- p.Thr7Ser Single submitter ⚠
- p.Thr827Ala Single submitter ⚠
- p.Tyr150Asn Single submitter
- p.Tyr150His Single submitter ⚠
- p.Val300Ile Single submitter ⚠
- p.Val732Phe Single submitter ⚠
- p.Val789Ile Single submitter ⚠
- p.Val836Ile Single submitter ⚠