NDUFS8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 305761	NM_002496.3(NDUFS8):c.-98G>A	LOC112081413, NDUFS8	Single nucleotide variant	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 305762	NM_002496.3(NDUFS8):c.-76C>T	LOC112081413, NDUFS8	Single nucleotide variant	Mitochondrial complex I deficiency +1 more	GUncertain significance
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 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
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 2989051	NM_002496.4(NDUFS8):c.1A>G (p.Met1Val)	NDUFS8 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3188433	NM_002496.4(NDUFS8):c.5G>T (p.Arg2Leu)	NDUFS8 (R2L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 877478	NM_002496.4(NDUFS8):c.5G>A (p.Arg2His)	NDUFS8 (R2H)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 1916181	NM_002496.4(NDUFS8):c.18G>A (p.Thr6=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746925	NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)	NDUFS8 (P7T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2350611	NM_002496.4(NDUFS8):c.32G>A (p.Arg11Gln)	NDUFS8 (R11Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1988556	NM_002496.4(NDUFS8):c.53G>A (p.Arg18His)	NDUFS8 (R18H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032831	NM_002496.4(NDUFS8):c.53G>T (p.Arg18Leu)	NDUFS8 (R18L)	Single nucleotide variant (missense variant)	Leigh syndrome +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 1905844	NM_002496.4(NDUFS8):c.59-17C>T	NDUFS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764232	NM_002496.4(NDUFS8):c.59-10C>G	NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214835	NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser)	NDUFS8 (P22S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2694913	NM_002496.4(NDUFS8):c.78C>T (p.Ser26=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906919	NM_002496.4(NDUFS8):c.84C>T (p.His28=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1411387	NM_002496.4(NDUFS8):c.85A>G (p.Ser29Gly)	NDUFS8 (S29G)	Single nucleotide variant (missense variant)	not provided	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 2716360	NM_002496.4(NDUFS8):c.110-20C>G	MIR7113, NDUFS8	Single nucleotide variant (non-coding transcript variant +1 more)	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 1663446	NM_002496.4(NDUFS8):c.110-10C>T	MIR7113, NDUFS8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 1917046	NM_002496.4(NDUFS8):c.132C>T (p.Pro44=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 305763	NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys)	NDUFS8 (E45K)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 1897207	NM_002496.4(NDUFS8):c.159C>A (p.Asp53Glu)	NDUFS8 (D53E)	Single nucleotide variant (missense variant)	not provided	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 1904094	NM_002496.4(NDUFS8):c.161G>A (p.Arg54Gln)	NDUFS8 (R54Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2178687	NM_002496.4(NDUFS8):c.169C>T (p.Arg57Cys)	NDUFS8 (R57C)	Single nucleotide variant (missense variant)	not provided	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 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 2074757	NM_002496.4(NDUFS8):c.185C>G (p.Thr62Ser)	NDUFS8 (T62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 305764	NM_002496.4(NDUFS8):c.199+5G>A	NDUFS8	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	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)	Leigh syndrome +3 more	GBenign
Select item 305766	NM_002496.4(NDUFS8):c.200-14C>T	NDUFS8	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1989919	NM_002496.4(NDUFS8):c.200-13G>A	NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2847911	NM_002496.4(NDUFS8):c.201C>T (p.Gly67=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239612	NM_002496.4(NDUFS8):c.220_372+130del	NDUFS8	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2038010	NM_002496.4(NDUFS8):c.216G>A (p.Leu72=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186143	NM_002496.4(NDUFS8):c.223C>T (p.Leu75=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	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)	Leigh syndrome +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 1611080	NM_002496.4(NDUFS8):c.243C>A (p.Thr81=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 378258	NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 882092	NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)	NDUFS8 (P90L)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1652218	NM_002496.4(NDUFS8):c.273G>A (p.Leu91=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1974014	NM_002496.4(NDUFS8):c.297T>C (p.His99=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 305767	NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)	NDUFS8 (A100V)	Single nucleotide variant (missense variant)	Leigh syndrome +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 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 2475867	NM_002496.4(NDUFS8):c.308G>A (p.Arg103Gln)	NDUFS8 (R103Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1658514	NM_002496.4(NDUFS8):c.318C>T (p.Ser106=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964977	NM_002496.4(NDUFS8):c.319G>A (p.Gly107Arg)	NDUFS8 (G107R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1313905	NM_002496.4(NDUFS8):c.328C>T (p.Arg110Cys)	NDUFS8 (R110C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 216970	NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu)	NDUFS8 (K115E)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
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 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 2109723	NM_002496.4(NDUFS8):c.371A>G (p.Gln124Arg)	NDUFS8 (Q124R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 381826	NM_002496.4(NDUFS8):c.372+11G>T	NDUFS8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1940156	NM_002496.4(NDUFS8):c.372+17A>G	NDUFS8	Single nucleotide variant (intron variant)	not provided	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 424985	NM_002496.4(NDUFS8):c.373-5C>T	NDUFS8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2891182	NM_002496.4(NDUFS8):c.373-4G>A	NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3239117	NM_002496.4(NDUFS8):c.376A>G (p.Ile126Val)	NDUFS8 (I126V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1477397	NM_002496.4(NDUFS8):c.380C>T (p.Thr127Ile)	NDUFS8 (T127I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2230684	NM_002496.4(NDUFS8):c.392A>G (p.Glu131Gly)	NDUFS8 (E131G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2782716	NM_002496.4(NDUFS8):c.405T>C (p.Asp135=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958749	NM_002496.4(NDUFS8):c.412C>T (p.Arg138Cys)	NDUFS8 (R138C)	Single nucleotide variant (missense variant)	not provided	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 2254083	NM_002496.4(NDUFS8):c.415C>T (p.Arg139Trp)	NDUFS8 (R139W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905665	NM_002496.4(NDUFS8):c.416G>A (p.Arg139Gln)	NDUFS8 (R139Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250547	NM_002496.4(NDUFS8):c.417G>C (p.Arg139=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250548	NM_002496.4(NDUFS8):c.423C>G (p.Thr141=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864036	NM_002496.4(NDUFS8):c.426C>G (p.Arg142=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3250549	NM_002496.4(NDUFS8):c.429T>C (p.Tyr143=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 429611	NM_002496.4(NDUFS8):c.436G>A (p.Asp146Asn)	NDUFS8 (D146N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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