ClinVar for MedGen (Select 374113) - ClinVar

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Result Filters

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 96451.	NC_012920.1:m.8851T>C GRCh37: ChrMT:8851 GRCh38: ChrMT:8851	MT-ATP6		Mitochondrial disease	Uncertain significance (Mar 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 96442.	NC_012920.1:m.9176T>C GRCh37: ChrMT:9176 GRCh38: ChrMT:9176	MT-ATP6		Mitochondrial disease	Pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database