ClinVar for Gene (Select 8260) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235972	NM_003491.4(NAA10):c.439A>G (p.Met147Val)	NAA10 (M132V +2 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3063883	NM_003491.4(NAA10):c.287G>A (p.Arg96Gln)	NAA10 (R90Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062554	GRCh37/hg19 Xq28(chrX:153200064-153624564)	EMD, FLNA +11 more	Copy number gain	not specified	GPathogenic
Select item 3062535	GRCh37/hg19 Xq28(chrX:153180240-153421839)	ARHGAP4, HCFC1 +6 more	Copy number gain	not specified	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3055204	NM_003491.4(NAA10):c.511G>A (p.Val171Met)	NAA10 (V156M +2 more)	Single nucleotide variant (missense variant)	NAA10-related disorder	GLikely benign
Select item 3045700	NM_003491.4(NAA10):c.342-8C>T	NAA10	Single nucleotide variant (intron variant)	NAA10-related disorder	GLikely benign
Select item 3035240	NM_003491.4(NAA10):c.120+5G>T	NAA10	Single nucleotide variant (intron variant)	NAA10-related disorder	GUncertain significance
Select item 3029992	NM_003491.4(NAA10):c.341+4G>A	NAA10	Single nucleotide variant (intron variant)	NAA10-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 3002532	NM_003491.4(NAA10):c.6C>T (p.Asn2=)	LOC130068840, NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999719	NM_003491.4(NAA10):c.472-18del	NAA10	Deletion (intron variant)	not provided	GLikely benign
Select item 2988791	NM_003491.4(NAA10):c.693C>T (p.Ser231=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2979950	NM_003491.4(NAA10):c.471+13A>C	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976460	NM_003491.4(NAA10):c.180-19C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971703	NM_003491.4(NAA10):c.341+18G>A	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966775	NM_003491.4(NAA10):c.341+9C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957588	NM_003491.4(NAA10):c.336G>A (p.Arg112=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956111	NM_003491.4(NAA10):c.386+13C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2806789	NM_003491.4(NAA10):c.219C>T (p.Thr73=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737608	NM_003491.4(NAA10):c.387-14C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730950	NM_003491.4(NAA10):c.116C>G (p.Pro39Arg)	NAA10 (P39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685775	GRCh37/hg19 Xq28(chrX:152941303-153549189)x2	OPN1LW, OPN1MW +20 more	Copy number gain	not provided	GPathogenic
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685772	GRCh37/hg19 Xq28(chrX:152707335-153624154)x2	ABCD1, ARHGAP4 +29 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2661761	NM_003491.4(NAA10):c.438C>T (p.Ala146=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661760	NM_003491.4(NAA10):c.617G>C (p.Gly206Ala)	NAA10 (G191A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572314	NM_003491.4(NAA10):c.239C>T (p.Ser80Phe)	NAA10 (S74F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2502813	NM_003491.4(NAA10):c.245G>A (p.Arg82Gln)	NAA10 (R76Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500532	NM_003491.4(NAA10):c.308A>T (p.Asn103Ile)	NAA10 (N103I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497935	NM_003491.4(NAA10):c.428A>T (p.Asp143Val)	NAA10 (D128V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2434012	NM_003491.4(NAA10):c.322_333del (p.Ser108_Val111del)	NAA10	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2425259	NC_000023.10:g.(?_153195397)_(153642547_?)dup	IRAK1, TKTL1 +14 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2424175	NC_000023.10:g.(?_153195397)_(153583460_?)dup	FLNA, HCFC1 +10 more	Duplication	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 2424169	NC_000023.10:g.(?_153128118)_(153664237_?)dup	ARHGAP4, ATP6AP1 +18 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, ARHGAP4 +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2423047	NC_000023.10:g.(?_152954030)_(153283591_?)dup	SRPK3, ABCD1 +14 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	FAM3A, CMC4 +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422159	NC_000023.10:g.(?_152014869)_(153363122_?)dup	PNMA5, PNMA6A +31 more	Duplication	not provided	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	Creatine transporter deficiency +8 more	GPathogenic
Select item 2414888	NM_003491.4(NAA10):c.537G>A (p.Lys179=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2234857	NM_003491.4(NAA10):c.436G>A (p.Ala146Thr)	NAA10 (A131T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213012	NM_003491.4(NAA10):c.586G>A (p.Glu196Lys)	NAA10 (E190K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190402	NM_003491.4(NAA10):c.351C>T (p.Ala117=)	NAA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2184439	NM_003491.4(NAA10):c.465C>T (p.Ala155=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2183730	NM_003491.4(NAA10):c.474G>A (p.Leu158=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174964	NM_003491.4(NAA10):c.510C>T (p.His170=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152476	NM_003491.4(NAA10):c.252C>G (p.Leu84=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2120421	NM_003491.4(NAA10):c.387-20C>G	NAA10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2097631	NM_003491.4(NAA10):c.105C>G (p.Gly35=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094682	NM_003491.4(NAA10):c.472-20C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017322	NM_003491.4(NAA10):c.471+4del	NAA10	Deletion (intron variant)	not provided	GUncertain significance
Select item 1969069	NM_003491.4(NAA10):c.387-5C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964713	NM_003491.4(NAA10):c.619G>C (p.Gly207Arg)	NAA10 (G192R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959684	NM_003491.4(NAA10):c.252C>T (p.Leu84=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958047	NM_003491.4(NAA10):c.471+12C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1952717	NM_003491.4(NAA10):c.341+10G>T	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1947013	NM_003491.4(NAA10):c.78C>T (p.Tyr26=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941908	NM_003491.4(NAA10):c.375C>T (p.Thr125=)	NAA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1915166	NM_003491.4(NAA10):c.516G>C (p.Val172=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909031	NM_003491.4(NAA10):c.639C>T (p.Ser213=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906892	NM_003491.4(NAA10):c.226-11T>C	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1901825	NM_003491.4(NAA10):c.447G>T (p.Arg149=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1810415	NM_003491.4(NAA10):c.139G>A (p.Asp47Asn)	NAA10 (D47N)	Single nucleotide variant (missense variant)	Kleine-Levin syndrome	GUncertain significance
Select item 1809108	GRCh37/hg19 Xq28(chrX:152805142-153200052)x2	ABCD1, ARHGAP4 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1715082	NM_003491.4(NAA10):c.149G>T (p.Gly50Val)	NAA10 (G50V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712895	NM_003491.4(NAA10):c.17C>A (p.Ala6Glu)	LOC130068840, NAA10 (A6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712856	NM_003491.4(NAA10):c.253G>A (p.Gly85Ser)	NAA10 (G79S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706714	NM_003491.4(NAA10):c.387-189C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1705306	NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys)	NAA10 (Y43C)	Single nucleotide variant (missense variant)	Ogden syndrome	GLikely pathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1703577	GRCh37/hg19 Xq28(chrX:152815772-153624215)	ABCD1, ARHGAP4 +26 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic
Select item 1687400	NM_003491.4(NAA10):c.112T>G (p.Trp38Gly)	NAA10 (W38G)	Single nucleotide variant (missense variant)	Ogden syndrome	GUncertain significance
Select item 1684654	Single allele	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
Select item 1679677	NM_003491.4(NAA10):c.418G>T (p.Asp140Tyr)	NAA10 (D125Y +2 more)	Single nucleotide variant (missense variant)	Ogden syndrome +1 more	GUncertain significance
Select item 1657917	NM_003491.4(NAA10):c.471+7G>A	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651911	NM_003491.4(NAA10):c.162G>C (p.Gly54=)	NAA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1648582	NM_003491.4(NAA10):c.179+20G>A	NAA10	Single nucleotide variant (intron variant)	Ogden syndrome +2 more	GBenign/Likely benign
Select item 1621474	NM_003491.4(NAA10):c.386+15A>T	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1601283	NM_003491.4(NAA10):c.341+10G>A	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1587854	NM_003491.4(NAA10):c.387-4C>G	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557790	NM_003491.4(NAA10):c.342-5T>C	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1554567	NM_003491.4(NAA10):c.480G>A (p.Arg160=)	NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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