"Ambry Genetics"[submitter] AND "NDUFS4"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214817	NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)	LOC129993885, NDUFS4 (S5P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 2612243	NM_002495.4(NDUFS4):c.226A>G (p.Lys76Glu)	NDUFS4 (K76E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2563492	NM_002495.4(NDUFS4):c.259A>G (p.Met87Val)	NDUFS4 (M87V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188335	NM_002495.4(NDUFS4):c.263A>G (p.Gln88Arg)	NDUFS4 (Q88R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529198	NM_002495.4(NDUFS4):c.266C>A (p.Ser89Tyr)	NDUFS4 (S89Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478694	NM_002495.4(NDUFS4):c.299A>G (p.Glu100Gly)	NDUFS4 (E100G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231090	NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)	NDUFS4 (W107fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2011619	NM_002495.4(NDUFS4):c.356A>G (p.Asp119Gly)	NDUFS4 (D119G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 40257	NM_002495.4(NDUFS4):c.462del (p.Lys154fs)	NDUFS4 (K154fs)	Deletion (3 prime UTR variant +2 more)	not provided +3 more	GPathogenic
Select item 214808	NM_002495.4(NDUFS4):c.469T>A (p.Ser157Thr)	NDUFS4 (S157T)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 618751	NM_002495.4(NDUFS4):c.487A>G (p.Asn163Asp)	NDUFS4 (N163D)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2403916	NM_002495.4(NDUFS4):c.506_508dup (p.Arg169_Thr170insArg)	NDUFS4	Duplication (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229667	NM_002495.4(NDUFS4):c.512_516dup (p.Ser173fs)	NDUFS4 (S173fs)	Duplication (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance