"GeneDx"[submitter] AND "NDUFS8"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138499	NM_002496.4(NDUFS8):c.-45A>C	LOC112081413, NDUFS8	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +3 more	GBenign/Likely benign
Select item 514263	NM_002496.4(NDUFS8):c.-16GCG[2]	LOC130006236, NDUFS8	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 1208395	NM_002496.4(NDUFS8):c.-1+38G>C	LOC130006236, NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269472	NM_002496.4(NDUFS8):c.1-139G>C	NDUFS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212911	NM_002496.4(NDUFS8):c.1-35C>T	NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214836	NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)	NDUFS8 (R2C)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 746925	NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)	NDUFS8 (P7T)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1241165	NM_002496.4(NDUFS8):c.59-22C>G	NDUFS8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 214835	NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser)	NDUFS8 (P22S)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 1288362	NM_002496.4(NDUFS8):c.109+123T>C	NDUFS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191534	NM_002496.4(NDUFS8):c.110-284C>T	NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383040	NM_002496.4(NDUFS8):c.110-11C>T	MIR7113, NDUFS8	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 3253380	NM_002496.4(NDUFS8):c.121A>C (p.Met41Leu)	NDUFS8 (M41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379353	NM_002496.4(NDUFS8):c.170G>A (p.Arg57His)	NDUFS8 (R57H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3369198	NM_002496.4(NDUFS8):c.197G>C (p.Arg66Pro)	NDUFS8 (R66P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380968	NM_002496.4(NDUFS8):c.199+15T>A	NDUFS8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 305765	NM_002496.4(NDUFS8):c.199+15T>G	NDUFS8	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 2 +3 more	GBenign
Select item 387078	NM_002496.4(NDUFS8):c.200-8G>T	NDUFS8	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 7511	NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)	NDUFS8 (P79L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 507736	NM_002496.4(NDUFS8):c.237G>A (p.Pro79=)	NDUFS8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 378258	NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)	NDUFS8	Single nucleotide variant (synonymous variant)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 429610	NM_002496.4(NDUFS8):c.292G>A (p.Glu98Lys)	NDUFS8 (E98K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 305767	NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)	NDUFS8 (A100V)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 381394	NM_002496.4(NDUFS8):c.300G>A (p.Ala100=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 7512	NM_002496.4(NDUFS8):c.305G>A (p.Arg102His)	NDUFS8 (R102H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 214837	NM_002496.4(NDUFS8):c.313C>T (p.Pro105Ser)	NDUFS8 (P105S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1313905	NM_002496.4(NDUFS8):c.328C>T (p.Arg110Cys)	NDUFS8 (R110C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372367	NM_002496.4(NDUFS8):c.329G>T (p.Arg110Leu)	NDUFS8 (R110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302698	NM_002496.4(NDUFS8):c.347T>C (p.Leu116Pro)	NDUFS8 (L116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381826	NM_002496.4(NDUFS8):c.372+11G>T	NDUFS8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 671791	NM_002496.4(NDUFS8):c.373-267T>G	NDUFS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254117	NM_002496.4(NDUFS8):c.373-211dup	NDUFS8	Duplication (intron variant)	not provided	GBenign
Select item 1230982	NM_002496.4(NDUFS8):c.373-221_373-211del	NDUFS8	Deletion (intron variant)	not provided	GBenign
Select item 3366280	NM_002496.4(NDUFS8):c.424C>T (p.Arg142Cys)	NDUFS8 (R142C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214838	NM_002496.4(NDUFS8):c.428A>T (p.Tyr143Phe)	NDUFS8 (Y143F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 429611	NM_002496.4(NDUFS8):c.436G>A (p.Asp146Asn)	NDUFS8 (D146N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 305768	NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)	NDUFS8	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 446006	NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser)	NDUFS8 (G154S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 305770	NM_002496.4(NDUFS8):c.502-13C>T	NDUFS8	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 305771	NM_002496.4(NDUFS8):c.502-10C>T	NDUFS8	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2582077	NM_002496.4(NDUFS8):c.502-3C>T	NDUFS8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 378259	NM_002496.4(NDUFS8):c.573C>T (p.Asn191=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 386356	NM_002496.4(NDUFS8):c.576G>T (p.Gly192=)	NDUFS8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1305656	NM_002496.4(NDUFS8):c.592G>A (p.Glu198Lys)	NDUFS8 (E198K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305772	NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)	NDUFS8	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 214841	NM_002496.4(NDUFS8):c.611A>T (p.Gln204Leu)	NDUFS8 (Q204L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284232	NM_002496.4(NDUFS8):c.*1C>T	NDUFS8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 305774	NM_002496.4(NDUFS8):c.*14C>T	NDUFS8, TCIRG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency +4 more	GBenign/Likely benign
Select item 378260	NM_002496.4(NDUFS8):c.*19C>T	NDUFS8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 305776	NM_002496.4(NDUFS8):c.*40A>G	NDUFS8, TCIRG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1271580	NC_000011.10:g.68036689C>T	NDUFS8	Single nucleotide variant	not provided	GBenign

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Items: 52