"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130062145" - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 327871	NM_021074.4(NDUFV2):c.-98G>T	LOC130062145, NDUFV2	Single nucleotide variant	Mitochondrial complex I deficiency	GUncertain significance
Select item 327872	NM_021074.4(NDUFV2):c.-94A>T	LOC130062145, NDUFV2	Single nucleotide variant	Mitochondrial complex I deficiency	GUncertain significance
Select item 327873	NM_021074.4(NDUFV2):c.-83C>T	LOC130062145, NDUFV2	Single nucleotide variant	Mitochondrial complex I deficiency	GUncertain significance
Select item 327874	NM_021074.5(NDUFV2):c.-39G>T	LOC130062145, NDUFV2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 327875	NM_021074.5(NDUFV2):c.-30G>T	LOC130062145, NDUFV2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380625	NM_021074.5(NDUFV2):c.-13A>G	LOC130062145, NDUFV2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 889249	NM_021074.5(NDUFV2):c.6C>T (p.Phe2=)	LOC130062145, NDUFV2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 327876	NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly)	LOC130062145, NDUFV2 (A6G)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity