"Baylor Genetics"[submitter] AND "LOC126861242"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496918	NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	LOC126861242, NDUFV1 (R386H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1034349	NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met)	LOC126861242, NDUFV1 (V400M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 996909	NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)	LOC126861242, NDUFV1 (R396W +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 14056	NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	LOC126861242, NDUFV1 (T423M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1031698	NM_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp)	LOC126861242, NDUFV1 (R443W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 305758	NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)	LOC126861242, NDUFV1 (R460W +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +5 more	GUncertain significance

ClinVar