"Baylor Genetics"[submitter] AND "NDUFV1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521516	NM_007103.4(NDUFV1):c.119G>A (p.Arg40Gln)	NDUFV1 (R40Q +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1030191	NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr)	NDUFV1 (S47T +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 372715	NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	NDUFV1 (S56P +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1031133	NM_007103.4(NDUFV1):c.312G>T (p.Lys104Asn)	NDUFV1 (K104N +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 4 +1 more	GUncertain significance
Select item 1031699	NM_007103.4(NDUFV1):c.343G>A (p.Val115Met)	NDUFV1 (V106M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1031700	NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala)	NDUFV1 (S167A +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 214857	NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys)	NDUFV1 (R267K +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 2671915	NM_007103.4(NDUFV1):c.853C>A (p.Pro285Thr)	NDUFV1 (P276T +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 4	GUncertain significance
Select item 1031701	NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys)	NDUFV1 (E291K +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2306858	NM_007103.4(NDUFV1):c.961G>A (p.Gly321Ser)	NDUFV1 (G321S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 4 +1 more	GUncertain significance
Select item 2582387	NM_007103.4(NDUFV1):c.995_1000del (p.Cys332_Thr334delinsSer)	NDUFV1	Deletion (inframe_indel)	Mitochondrial complex 1 deficiency, nuclear type 4	GUncertain significance
Select item 14058	NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)	NDUFV1 (A341V +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 4 +2 more	GPathogenic/Likely pathogenic
Select item 496918	NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	LOC126861242, NDUFV1 (R386H +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1034349	NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met)	LOC126861242, NDUFV1 (V400M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 996909	NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)	NDUFV1, LOC126861242 (R396W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 14056	NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	LOC126861242, NDUFV1 (T423M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1031698	NM_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp)	LOC126861242, NDUFV1 (R443W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 305758	NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)	LOC126861242, NDUFV1 (R460W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic