TMED7 — 86 ClinVar variants
All ClinVar germline TMED7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
3 Benign · 38 Likely benign · 45 Uncertain significance
Full TMED7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TMED7 p.Thr219Arg Uncertain significance Multiple submitters
- TMED7 p.Val191Ala Uncertain significance Multiple submitters
- TMED7 p.Ala100Val Uncertain significance Single submitter
- TMED7 p.Ala11Thr Uncertain significance Single submitter
- TMED7 p.Ala150Pro Uncertain significance Single submitter
- TMED7 p.Ala7Val Uncertain significance Single submitter
- TMED7 p.Arg140Gln Uncertain significance Single submitter
- TMED7 p.Arg169Cys Uncertain significance Single submitter
- TMED7 p.Arg16Cys Uncertain significance Single submitter
- TMED7 p.Arg176Gln Uncertain significance Single submitter
- TMED7 p.Arg76Gln Uncertain significance Single submitter
- TMED7 p.Asn103His Uncertain significance Single submitter
- TMED7 p.Asp181Val Uncertain significance Single submitter
- TMED7 p.Asp74Gly Uncertain significance Single submitter
- TMED7 p.Asp94Asn Uncertain significance Single submitter
- TMED7 p.Gln55Glu Uncertain significance Single submitter
- TMED7 p.Gln8Arg Uncertain significance Single submitter
- TMED7 p.Glu113Lys Uncertain significance Single submitter
- TMED7 p.Glu130Gln Uncertain significance Single submitter
- TMED7 p.Glu130Gly Uncertain significance Single submitter
- TMED7 p.Gly82Asp Uncertain significance Single submitter
- TMED7 p.Lys102Arg Uncertain significance Single submitter
- TMED7 p.Phe212Ser Uncertain significance Single submitter
- TMED7 p.Pro133Ser Uncertain significance Single submitter
- TMED7 p.Pro2Arg Uncertain significance Single submitter
- TMED7 p.Pro4Leu Uncertain significance Single submitter
- TMED7 p.Thr219Ala Uncertain significance Single submitter
- TMED7 p.Thr220Ala Uncertain significance Single submitter
- TMED7 p.Trp10Arg Uncertain significance Single submitter
- TMED7 p.Trp10Ser Uncertain significance Single submitter
- TMED7 p.Val65Met Uncertain significance Single submitter
- TMED7 p.Val84Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All TMED7 variants
Benign 3
- c.438+12_438+13dup Single submitter
- c.438+13dup Single submitter
- p.Ser190= Single submitter
Likely benign 38
- p.Gly5= Single submitter
- c.192+15G>A Single submitter
- c.192+20C>T Single submitter
- c.192+8G>T Single submitter
- c.193-19_193-13del Single submitter
- c.193-5del Single submitter
- c.438+18C>T Single submitter
- c.438+20A>G Single submitter
- c.438+7A>T Single submitter
- c.439-11T>C Single submitter
- c.439-14A>G Single submitter
- c.439-17A>G Single submitter
- c.439-20C>T Single submitter
- p.Asn103= Single submitter
- p.Asp125= Single submitter
- p.Asp74= Single submitter
- p.Cys48= Single submitter
- p.Gln204= Single submitter
- p.Glu36= Single submitter
- p.Gly104= Single submitter
- p.Gly5= Single submitter
- p.His155= Single submitter
- p.Leu208= Single submitter
- p.Lys107= Single submitter
- p.Lys90= Single submitter
- p.Pro132= Single submitter
- p.Pro4= Single submitter
- p.Ser201= Single submitter
- p.Ser224= Single submitter
- p.Ser35= Single submitter
- p.Ser95= Single submitter
- p.Thr105= Single submitter
- p.Thr116= Single submitter
- p.Thr184= Single submitter
- p.Thr38= Single submitter
- p.Tyr164= Single submitter
- p.Tyr50= Single submitter
- p.Val73= Single submitter
Uncertain significance 45
- p.Thr219Arg Multiple submitters ⚠
- p.Val191Ala Multiple submitters ⚠
- c.192+4T>A Single submitter
- c.192+6_192+7del Single submitter
- c.438+1G>A Single submitter
- p.Ala100Val Single submitter ⚠
- p.Ala11Thr Single submitter ⚠
- p.Ala150Pro Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg169Cys Single submitter ⚠
- p.Arg16Cys Single submitter ⚠
- p.Arg176Gln Single submitter ⚠
- p.Arg221Cys Single submitter
- p.Arg76Gln Single submitter ⚠
- p.Asn103His Single submitter ⚠
- p.Asp163His Single submitter ⚠
- p.Asp181Val Single submitter ⚠
- p.Asp52Asn Single submitter ⚠
- p.Asp52Gly Single submitter
- p.Asp52Val Single submitter
- p.Asp74Gly Single submitter ⚠
- p.Asp94Asn Single submitter ⚠
- p.Gln146Lys Single submitter
- p.Gln55Glu Single submitter ⚠
- p.Gln8Arg Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Glu130Gln Single submitter ⚠
- p.Glu130Gly Single submitter ⚠
- p.Gly82Asp Single submitter ⚠
- p.Lys102Arg Single submitter ⚠
- p.Phe108Leu Single submitter ⚠
- p.Phe212Ser Single submitter ⚠
- p.Pro133Ser Single submitter ⚠
- p.Pro2Arg Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Ser213_Asp214insTer Single submitter
- p.Thr166Asn Single submitter ⚠
- p.Thr219Ala Single submitter ⚠
- p.Thr220Ala Single submitter ⚠
- p.Thr57Ala Single submitter ⚠
- p.Trp10Arg Single submitter ⚠
- p.Trp10Ser Single submitter ⚠
- p.Val65Met Single submitter ⚠
- p.Val84Leu Single submitter ⚠