7696[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	FAHD1, GFER +40 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2181038	NM_004548.3(NDUFB10):c.4C>T (p.Pro2Ser)	NDUFB10 (P2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2349889	NM_004548.3(NDUFB10):c.11G>C (p.Ser4Thr)	NDUFB10 (S4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308294	NM_004548.3(NDUFB10):c.37C>T (p.Pro13Ser)	NDUFB10 (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2761615	NM_004548.3(NDUFB10):c.40C>A (p.Pro14Thr)	NDUFB10 (P14T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761632	NM_004548.3(NDUFB10):c.42G>T (p.Pro14=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023649	NM_004548.3(NDUFB10):c.57G>A (p.Val19=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870017	NM_004548.3(NDUFB10):c.65A>G (p.Asn22Ser)	NDUFB10 (N22S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2063903	NM_004548.3(NDUFB10):c.67C>A (p.Pro23Thr)	NDUFB10 (P23T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3299055	NM_004548.3(NDUFB10):c.68C>A (p.Pro23His)	NDUFB10 (P23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2014724	NM_004548.3(NDUFB10):c.72C>T (p.Ile24=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2876302	NM_004548.3(NDUFB10):c.94G>T (p.Asp32Tyr)	NDUFB10 (D32Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978487	NM_004548.3(NDUFB10):c.102C>T (p.Ile34=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059859	NM_004548.3(NDUFB10):c.103G>T (p.Val35Leu)	NDUFB10 (V35L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2885975	NM_004548.3(NDUFB10):c.108C>T (p.Asp36=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876528	NM_004548.3(NDUFB10):c.121C>T (p.Leu41Phe)	NDUFB10 (L41F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867880	NM_004548.3(NDUFB10):c.130G>C (p.Glu44Gln)	NDUFB10 (E44Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123710	NM_004548.3(NDUFB10):c.130+7A>G	NDUFB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 873018	NM_004548.3(NDUFB10):c.131-442G>C	NDUFB10	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency	GLikely pathogenic
Select item 2062919	NM_004548.3(NDUFB10):c.131-10G>A	NDUFB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2088891	NM_004548.3(NDUFB10):c.131-8C>T	NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3299053	NM_004548.3(NDUFB10):c.134T>C (p.Phe45Ser)	NDUFB10 (F45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318920	NM_004548.3(NDUFB10):c.141G>C (p.Glu47Asp)	NDUFB10 (E47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2034269	NM_004548.3(NDUFB10):c.142C>T (p.Arg48Trp)	NDUFB10 (R48W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2325189	NM_004548.3(NDUFB10):c.143G>A (p.Arg48Gln)	NDUFB10 (R48Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2876454	NM_004548.3(NDUFB10):c.151G>A (p.Ala51Thr)	NDUFB10 (A51T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179618	NM_004548.3(NDUFB10):c.170A>G (p.Tyr57Cys)	NDUFB10 (Y57C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3187761	NM_004548.3(NDUFB10):c.179G>A (p.Arg60Gln)	NDUFB10 (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179213	NM_004548.3(NDUFB10):c.181C>G (p.Gln61Glu)	NDUFB10 (Q61E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2869372	NM_004548.3(NDUFB10):c.187C>T (p.Arg63Cys)	NDUFB10 (R63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989538	NM_004548.3(NDUFB10):c.190C>T (p.Arg64Cys)	NDUFB10 (R64C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044090	NM_004548.3(NDUFB10):c.197C>G (p.Pro66Arg)	NDUFB10 (P66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2595895	NM_004548.3(NDUFB10):c.210G>T (p.Glu70Asp)	NDUFB10 (E70D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879319	NM_004548.3(NDUFB10):c.210G>A (p.Glu70=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3299054	NM_004548.3(NDUFB10):c.214A>G (p.Lys72Glu)	NDUFB10 (K72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2713335	NM_004548.3(NDUFB10):c.216GGA[2] (p.Glu74del)	NDUFB10 (E74del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2195883	NM_004548.3(NDUFB10):c.221A>T (p.Glu74Val)	NDUFB10 (E74V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1907757	NM_004548.3(NDUFB10):c.222G>A (p.Glu74=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2253894	NM_004548.3(NDUFB10):c.223G>A (p.Asp75Asn)	NDUFB10 (D75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2097096	NM_004548.3(NDUFB10):c.225CAT[3] (p.Ile76_Met77insIle)	NDUFB10	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2414713	NM_004548.3(NDUFB10):c.226A>G (p.Ile76Val)	NDUFB10 (I76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133224	NM_004548.3(NDUFB10):c.227T>C (p.Ile76Thr)	NDUFB10 (I76T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902989	NM_004548.3(NDUFB10):c.246C>T (p.Ala82=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2871628	NM_004548.3(NDUFB10):c.250A>G (p.Met84Val)	NDUFB10 (M84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142351	NM_004548.3(NDUFB10):c.269+4C>T	NDUFB10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2854879	NM_004548.3(NDUFB10):c.269+6T>G	NDUFB10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2007471	NM_004548.3(NDUFB10):c.270-7C>T	LOC130058198, NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093069	NM_004548.3(NDUFB10):c.276C>G (p.Val92=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713530	NM_004548.3(NDUFB10):c.279C>T (p.Asp93=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 977508	NM_004548.3(NDUFB10):c.319T>C (p.Cys107Arg)	LOC130058198, NDUFB10 (C107R)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 35	GPathogenic
Select item 2142415	NM_004548.3(NDUFB10):c.329G>T (p.Arg110Met)	LOC130058198, NDUFB10 (R110M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2614277	NM_004548.3(NDUFB10):c.339G>T (p.Gln113His)	LOC130058198, NDUFB10 (Q113H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2110966	NM_004548.3(NDUFB10):c.341dup (p.Asn114fs)	LOC130058198, NDUFB10 (N114fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1973993	NM_004548.3(NDUFB10):c.357dup (p.Ile120fs)	LOC130058198, NDUFB10 (I120fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2327737	NM_004548.3(NDUFB10):c.359T>C (p.Ile120Thr)	LOC130058198, NDUFB10 (I120T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2780741	NM_004548.3(NDUFB10):c.372G>A (p.Glu124=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037885	NM_004548.3(NDUFB10):c.381C>T (p.Thr127=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081475	NM_004548.3(NDUFB10):c.389C>T (p.Ala130Val)	LOC130058198, NDUFB10 (A130V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2419459	NM_004548.3(NDUFB10):c.401_409+10del	LOC130058198, NDUFB10	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2715025	NM_004548.3(NDUFB10):c.400C>G (p.Gln134Glu)	LOC130058198, NDUFB10 (Q134E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3187794	NM_004548.3(NDUFB10):c.401A>G (p.Gln134Arg)	LOC130058198, NDUFB10 (Q134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2806970	NM_004548.3(NDUFB10):c.402G>A (p.Gln134=)	LOC130058198, NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881860	NM_004548.3(NDUFB10):c.409+3G>A	LOC130058198, NDUFB10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 735859	NM_004548.3(NDUFB10):c.409+9C>G	LOC130058198, NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965123	NM_004548.3(NDUFB10):c.409+10C>G	LOC130058198, NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868157	NM_004548.3(NDUFB10):c.409+23_409+30del	NDUFB10	Deletion (intron variant)	not provided	GLikely benign
Select item 1971227	NM_004548.3(NDUFB10):c.409+20C>T	NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675606	NM_004548.3(NDUFB10):c.409+44G>C	NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645953	NM_004548.3(NDUFB10):c.409+59C>T	LOC130058199, NDUFB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037479	NM_004548.3(NDUFB10):c.418C>A (p.Leu140Met)	NDUFB10 (L140M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2176776	NM_004548.3(NDUFB10):c.424G>A (p.Ala142Thr)	NDUFB10 (A142T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2048290	NM_004548.3(NDUFB10):c.448C>G (p.Leu150Val)	NDUFB10 (L150V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155866	NM_004548.3(NDUFB10):c.474G>T (p.Leu158=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024220	NM_004548.3(NDUFB10):c.474G>A (p.Leu158=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733377	NM_004548.3(NDUFB10):c.486A>G (p.Lys162=)	NDUFB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2181681	NM_004548.3(NDUFB10):c.493A>G (p.Lys165Glu)	NDUFB10 (K165E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2323162	NM_004548.3(NDUFB10):c.494A>G (p.Lys165Arg)	NDUFB10 (K165R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351469	NM_004548.3(NDUFB10):c.502G>A (p.Ala168Thr)	NDUFB10 (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2158137	NM_004548.3(NDUFB10):c.505G>A (p.Ala169Thr)	NDUFB10 (A169T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2602257	NM_004548.3(NDUFB10):c.508G>A (p.Ala170Thr)	NDUFB10 (A170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1973758	NM_004548.3(NDUFB10):c.509C>T (p.Ala170Val)	NDUFB10 (A170V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance

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