MT-TK — 36 ClinVar variants
All ClinVar germline MT-TK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Pathogenic · 4 Likely pathogenic · 8 Benign · 1 Benign/Likely benign · 7 Likely benign · 15 Uncertain significance
Full MT-TK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll MT-TK variants
Pathogenic 1
- m.8344A>G Expert panel mitochondrial disease
Likely pathogenic 4
Benign 8
- m.8308A>G Single submitter MELAS syndrome
- m.8311T>C Single submitter MELAS syndrome
- m.8337T>C Single submitter MELAS syndrome
- m.8343A>G Single submitter MELAS syndrome
- m.8345C>T Single submitter MELAS syndrome
- m.8347A>G Single submitter MELAS syndrome
- m.8349C>T Single submitter MELAS syndrome
- m.8360A>G Single submitter MELAS syndrome
Benign/Likely benign 1
- m.8348A>G Multiple submitters MELAS syndrome
Likely benign 7
Uncertain significance 15
- m.8296A>G Expert panel mitochondrial disease
- m.8299G>A Expert panel mitochondrial disease
- m.8306T>C Expert panel mitochondrial disease
- m.8319A>G Expert panel mitochondrial disease
- m.8342G>A Expert panel mitochondrial disease
- m.8361G>A Expert panel mitochondrial disease
- m.8362T>G Expert panel mitochondrial disease
- m.8301A>G Single submitter MELAS syndrome
- m.8302A>G Single submitter
- m.8311T>A Single submitter MELAS syndrome
- m.8326A>G Single submitter
- m.8328G>A Single submitter
- m.8340_8341insT Single submitter MELAS syndrome
- m.8358A>G Single submitter MELAS syndrome
- m.8364A>T Single submitter MELAS syndrome