ClinVar for MedGen (Select 1745427) - ClinVar

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Result Filters

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9775081.	NM_004548.3(NDUFB10):c.319T>C (p.Cys107Arg) GRCh37: Chr16:2011547 GRCh38: Chr16:1961546	LOC130058198, NDUFB10	C107R	Mitochondrial complex 1 deficiency, nuclear type 35	Pathogenic (Sep 3, 2020)	no assertion criteria provided
Select item 9775072.	NM_004548.3(NDUFB10):c.207dup (p.Glu70Ter) GRCh37: Chr18:55283094-55283095 GRCh38: Chr18:57615862-57615863	NARS1		Mitochondrial complex 1 deficiency, nuclear type 35	Pathogenic (Sep 3, 2020)	no assertion criteria provided