"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129993885" - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 353888	NM_002495.4(NDUFS4):c.-22C>A	LOC129993885, NDUFS4	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 214809	NM_002495.4(NDUFS4):c.-6A>T	LOC129993885, NDUFS4	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 905818	NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)	LOC129993885, NDUFS4 (A2E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 905819	NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 214810	NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)	LOC129993885, NDUFS4 (V4L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 129699	NM_002495.4(NDUFS4):c.12G>C (p.Val4=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 214817	NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)	LOC129993885, NDUFS4 (S5P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +5 more	GConflicting classifications of pathogenicity
Select item 906327	NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe)	NDUFS4, LOC129993885 (S26F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance