ClinVar for Gene (Select 4728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3253380	NM_002496.4(NDUFS8):c.121A>C (p.Met41Leu)	NDUFS8 (M41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250550	NM_002496.4(NDUFS8):c.456C>T (p.Tyr152=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250549	NM_002496.4(NDUFS8):c.429T>C (p.Tyr143=)	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 3250547	NM_002496.4(NDUFS8):c.417G>C (p.Arg139=)	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 3239117	NM_002496.4(NDUFS8):c.376A>G (p.Ile126Val)	NDUFS8 (I126V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3032814	NM_002496.4(NDUFS8):c.*10G>A	NDUFS8	Single nucleotide variant (3 prime UTR variant)	NDUFS8-related disorder	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 2964977	NM_002496.4(NDUFS8):c.319G>A (p.Gly107Arg)	NDUFS8 (G107R)	Single nucleotide variant (missense 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 2864036	NM_002496.4(NDUFS8):c.426C>G (p.Arg142=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860324	NM_002496.4(NDUFS8):c.502-11T>G	NDUFS8	Single nucleotide variant (intron variant)	not provided	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 2782716	NM_002496.4(NDUFS8):c.405T>C (p.Asp135=)	NDUFS8	Single nucleotide variant (synonymous 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 2694913	NM_002496.4(NDUFS8):c.78C>T (p.Ser26=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2685409	GRCh37/hg19 11q13.2(chr11:67799161-68393180)x1	C11orf24, CHKA +5 more	Copy number loss	not provided	GPathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2582077	NM_002496.4(NDUFS8):c.502-3C>T	NDUFS8	Single nucleotide variant (intron 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 2475867	NM_002496.4(NDUFS8):c.308G>A (p.Arg103Gln)	NDUFS8 (R103Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2424414	NC_000011.9:g.(?_67759017)_(68216538_?)dup	ALDH3B1, C11orf24 +6 more	Duplication	not provided	GUncertain significance
Select item 2402276	NM_002496.4(NDUFS8):c.628C>T (p.Arg210Trp)	NDUFS8 (R210W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2254083	NM_002496.4(NDUFS8):c.415C>T (p.Arg139Trp)	NDUFS8 (R139W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2186143	NM_002496.4(NDUFS8):c.223C>T (p.Leu75=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2109723	NM_002496.4(NDUFS8):c.371A>G (p.Gln124Arg)	NDUFS8 (Q124R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109168	NM_002496.4(NDUFS8):c.605del (p.Asn202fs)	NDUFS8 (N202fs)	Deletion (frameshift variant)	not provided	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 2074757	NM_002496.4(NDUFS8):c.185C>G (p.Thr62Ser)	NDUFS8 (T62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038010	NM_002496.4(NDUFS8):c.216G>A (p.Leu72=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989919	NM_002496.4(NDUFS8):c.200-13G>A	NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1974014	NM_002496.4(NDUFS8):c.297T>C (p.His99=)	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 1946433	NM_002496.4(NDUFS8):c.551A>T (p.Asn184Ile)	NDUFS8 (N184I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940156	NM_002496.4(NDUFS8):c.372+17A>G	NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930179	NM_002496.4(NDUFS8):c.600C>T (p.Ala200=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917046	NM_002496.4(NDUFS8):c.132C>T (p.Pro44=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916181	NM_002496.4(NDUFS8):c.18G>A (p.Thr6=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914095	NM_002496.4(NDUFS8):c.501+16G>A	NDUFS8	Single nucleotide variant (intron 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 1905844	NM_002496.4(NDUFS8):c.59-17C>T	NDUFS8	Single nucleotide variant (intron variant)	not provided	GBenign
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 1904887	NM_002496.4(NDUFS8):c.495C>T (p.Ile165=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1897207	NM_002496.4(NDUFS8):c.159C>A (p.Asp53Glu)	NDUFS8 (D53E)	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 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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1690928	NM_002496.4(NDUFS8):c.454T>C (p.Tyr152His)	NDUFS8 (Y152H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
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 1658514	NM_002496.4(NDUFS8):c.318C>T (p.Ser106=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652218	NM_002496.4(NDUFS8):c.273G>A (p.Leu91=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637532	NM_002496.4(NDUFS8):c.591C>T (p.Ala197=)	NDUFS8	Single nucleotide variant (synonymous variant)	not provided	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 1520762	NM_002496.4(NDUFS8):c.605A>C (p.Asn202Thr)	NDUFS8 (N202T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503645	NM_002496.4(NDUFS8):c.585G>A (p.Trp195Ter)	NDUFS8 (W195*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
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 1434152	NM_002496.4(NDUFS8):c.457T>C (p.Cys153Arg)	NDUFS8 (C153R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1313905	NM_002496.4(NDUFS8):c.328C>T (p.Arg110Cys)	NDUFS8 (R110C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1302698	NM_002496.4(NDUFS8):c.347T>C (p.Leu116Pro)	NDUFS8 (L116P)	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 1284232	NM_002496.4(NDUFS8):c.*1C>T	NDUFS8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1271580	NC_000011.10:g.68036689C>T	NDUFS8	Single nucleotide variant	not provided	GBenign
Select item 1269472	NM_002496.4(NDUFS8):c.1-139G>C	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 1241165	NM_002496.4(NDUFS8):c.59-22C>G	NDUFS8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230982	NM_002496.4(NDUFS8):c.373-221_373-211del	NDUFS8	Deletion (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 1208395	NM_002496.4(NDUFS8):c.-1+38G>C	LOC130006236, NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191534	NM_002496.4(NDUFS8):c.110-284C>T	NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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 884038	NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)	NDUFS8 (G192R)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
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 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 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 764232	NM_002496.4(NDUFS8):c.59-10C>G	NDUFS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 671791	NM_002496.4(NDUFS8):c.373-267T>G	NDUFS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 522728	NM_002496.4(NDUFS8):c.484G>A (p.Val162Met)	NDUFS8 (V162M)	Single nucleotide variant (missense variant)	Leigh syndrome	GUncertain significance
Select item 514263	NM_002496.4(NDUFS8):c.-16GCG[2]	LOC130006236, NDUFS8	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 507736	NM_002496.4(NDUFS8):c.237G>A (p.Pro79=)	NDUFS8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 488561	NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile)	NDUFS8 (M147I)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GLikely pathogenic

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