ClinVar for MedGen (Select 1648466) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254824	NM_002496.4(NDUFS8):c.501+5G>A	NDUFS8	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GLikely pathogenic
Select item 3063712	NM_002496.4(NDUFS8):c.372+1G>A	NDUFS8	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GLikely pathogenic
Select item 2689554	NM_002496.4(NDUFS8):c.329G>A (p.Arg110His)	NDUFS8 (R110H)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GUncertain significance
Select item 2577373	NM_002496.4(NDUFS8):c.160C>T (p.Arg54Trp)	NDUFS8 (R54W)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GPathogenic
Select item 2434095	NM_002496.4(NDUFS8):c.367G>T (p.Ala123Ser)	NDUFS8 (A123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2084627	NM_002496.4(NDUFS8):c.307C>T (p.Arg103Trp)	NDUFS8 (R103W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806071	NM_002496.4(NDUFS8):c.325G>A (p.Glu109Lys)	NDUFS8 (E109K)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GUncertain significance
Select item 1804015	NM_002496.4(NDUFS8):c.170G>C (p.Arg57Pro)	NDUFS8 (R57P)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GLikely pathogenic
Select item 1709288	NM_002496.4(NDUFS8):c.499G>A (p.Glu167Lys)	NDUFS8 (E167K)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GUncertain significance
Select item 1503645	NM_002496.4(NDUFS8):c.585G>A (p.Trp195Ter)	NDUFS8 (W195*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 2 +1 more	GUncertain significance
Select item 1241165	NM_002496.4(NDUFS8):c.59-22C>G	NDUFS8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 917536	NM_002496.4(NDUFS8):c.384C>G (p.Ile128Met)	NDUFS8 (I128M)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GUncertain significance
Select item 446006	NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser)	NDUFS8 (G154S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305765	NM_002496.4(NDUFS8):c.199+15T>G	NDUFS8	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign
Select item 214836	NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)	NDUFS8 (R2C)	Single nucleotide variant (missense variant)	NDUFS8-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 39835	NM_002496.4(NDUFS8):c.187G>C (p.Glu63Gln)	NDUFS8 (E63Q)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GPathogenic
Select item 39834	NM_002496.4(NDUFS8):c.476C>A (p.Ala159Asp)	NDUFS8 (A159D)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GPathogenic
Select item 39833	NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp)	NDUFS8 (R77W)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2 +1 more	GUncertain significance
Select item 7514	NM_002496.4(NDUFS8):c.413G>A (p.Arg138His)	NDUFS8 (R138H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7513	NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu)	NDUFS8 (P85L)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 2	GPathogenic
Select item 7512	NM_002496.4(NDUFS8):c.305G>A (p.Arg102His)	NDUFS8 (R102H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7511	NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)	NDUFS8 (P79L)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GLikely pathogenic

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Items: 22