Related gene-specific medical variations for Gene (Select 4728) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2716360	NM_002496.4(NDUFS8):c.110-20C>G	MIR7113, NDUFS8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2689554	NM_002496.4(NDUFS8):c.329G>A (p.Arg110His)	NDUFS8 (R110H)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GUncertain significance
Select item 1663446	NM_002496.4(NDUFS8):c.110-10C>T	MIR7113, NDUFS8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1208395	NM_002496.4(NDUFS8):c.-1+38G>C	LOC130006236, NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 522728	NM_002496.4(NDUFS8):c.484G>A (p.Val162Met)	NDUFS8 (V162M)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 514263	NM_002496.4(NDUFS8):c.-16GCG[2]	LOC130006236, NDUFS8	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 383040	NM_002496.4(NDUFS8):c.110-11C>T	MIR7113, NDUFS8	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 138499	NM_002496.4(NDUFS8):c.-45A>C	LOC112081413, NDUFS8	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +3 more	GBenign/Likely benign

ClinVar