TMEM164 — 24 ClinVar variants
All ClinVar germline TMEM164 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
4 Likely benign · 20 Uncertain significance
Full TMEM164 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TMEM164 p.Ala22Pro Uncertain significance Single submitter
- TMEM164 p.Arg140Gln Uncertain significance Single submitter
- TMEM164 p.Arg140Trp Uncertain significance Single submitter
- TMEM164 p.Arg207Leu Uncertain significance Single submitter
- TMEM164 p.Arg207Trp Uncertain significance Single submitter
- TMEM164 p.Arg290Gln Uncertain significance Single submitter
- TMEM164 p.Gly141Ala Uncertain significance Single submitter
- TMEM164 p.Ile189Met Uncertain significance Single submitter
- TMEM164 p.Ile189Val Uncertain significance Single submitter
- TMEM164 p.Leu262Val Uncertain significance Single submitter
- TMEM164 p.Leu54Val Uncertain significance Single submitter
- TMEM164 p.Ser257Leu Uncertain significance Single submitter
- TMEM164 p.Ser74Ile Uncertain significance Single submitter
- TMEM164 p.Ser89Asn Uncertain significance Single submitter
- TMEM164 p.Tyr6Cys Uncertain significance Single submitter
- TMEM164 p.Val79Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All TMEM164 variants
Likely benign 4
- p.Pro72Arg Single submitter
- p.Ser71Gly Single submitter
- p.Ser74Cys Single submitter
- p.Tyr185= Single submitter
Uncertain significance 20
- c.587-1G>C Single submitter
- p.Ala22Pro Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg207Leu Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg290Gln Single submitter ⚠
- p.Gly141Ala Single submitter ⚠
- p.Ile189Met Single submitter ⚠
- p.Ile189Val Single submitter ⚠
- p.Leu262Val Single submitter ⚠
- p.Leu54Val Single submitter ⚠
- p.Ser257Leu Single submitter ⚠
- p.Ser74Ile Single submitter ⚠
- p.Ser89Asn Single submitter ⚠
- p.Thr167Ser Single submitter ⚠
- p.Trp251Arg Single submitter ⚠
- p.Tyr14Cys Single submitter
- p.Tyr6Cys Single submitter ⚠
- p.Val79Leu Single submitter ⚠