"Ambry Genetics"[submitter] AND "NDUFS2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2279296	NM_005099.6(ADAMTS4):c.548G>A (p.Arg183Gln)	ADAMTS4, NDUFS2 (R183Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537579	NM_005099.6(ADAMTS4):c.545G>A (p.Arg182His)	ADAMTS4, NDUFS2 (R182H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598261	NM_005099.6(ADAMTS4):c.527C>G (p.Pro176Arg)	ADAMTS4, NDUFS2 (P176R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307086	NM_005099.6(ADAMTS4):c.376A>G (p.Thr126Ala)	ADAMTS4, NDUFS2 (T126A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512660	NM_005099.6(ADAMTS4):c.272C>T (p.Thr91Met)	ADAMTS4, NDUFS2 (T91M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353295	NM_005099.6(ADAMTS4):c.251G>A (p.Arg84His)	ADAMTS4, NDUFS2 (R84H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523435	NM_005099.6(ADAMTS4):c.205G>A (p.Gly69Ser)	ADAMTS4, NDUFS2 (G69S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257408	NM_005099.6(ADAMTS4):c.184G>A (p.Val62Met)	ADAMTS4, NDUFS2 (V62M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605864	NM_005099.6(ADAMTS4):c.41G>A (p.Gly14Glu)	ADAMTS4, NDUFS2 (G14E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374200	NM_005099.6(ADAMTS4):c.25G>A (p.Gly9Arg)	ADAMTS4, NDUFS2 (G9R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2299180	NM_005099.6(ADAMTS4):c.20A>G (p.His7Arg)	ADAMTS4, NDUFS2 (H7R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610824	NM_001377299.1(NDUFS2):c.53T>G (p.Leu18Arg)	LOC129931761, NDUFS2 (L18R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255821	NM_001377299.1(NDUFS2):c.80C>G (p.Pro27Arg)	LOC129931761, NDUFS2 (P27R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 293271	NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp)	NDUFS2 (G33D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2548127	NM_001377299.1(NDUFS2):c.175G>T (p.Ala59Ser)	NDUFS2 (A59S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486660	NM_001377299.1(NDUFS2):c.287G>A (p.Arg96Gln)	NDUFS2 (R96Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309917	NM_001377299.1(NDUFS2):c.410A>G (p.Asp137Gly)	NDUFS2 (D137G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231819	NM_001377299.1(NDUFS2):c.595C>T (p.Pro199Ser)	NDUFS2 (P199S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302327	NM_001377299.1(NDUFS2):c.682C>T (p.Arg228Trp)	NDUFS2 (R228W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615426	NM_001377299.1(NDUFS2):c.829G>C (p.Val277Leu)	NDUFS2 (V251L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1967017	NM_001377299.1(NDUFS2):c.845A>C (p.Glu282Ala)	NDUFS2 (E256A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 214795	NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)	NDUFS2 (H380D)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +3 more	GConflicting classifications of pathogenicity
Select item 2550887	NM_001377299.1(NDUFS2):c.1269G>C (p.Lys423Asn)	NDUFS2 (K423N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 214801	NM_001377299.1(NDUFS2):c.1276G>T (p.Ala426Ser)	NDUFS2 (A426S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 985317	NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr)	NDUFS2 (H442Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1973021	NM_001377299.1(NDUFS2):c.1342G>A (p.Val448Ile)	NDUFS2 (V448I +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GUncertain significance
Select item 2323889	NM_001377299.1(NDUFS2):c.1373T>A (p.Phe458Tyr)	NDUFS2 (F432Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 27