ClinVar for Gene (Select 6134) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3032745	NM_006013.5(RPL10):c.*87C>G	RPL10 (T190R)	Single nucleotide variant (missense variant +1 more)	RPL10-related condition	GUncertain significance
Select item 3024976	NM_006013.5(RPL10):c.24-8C>G	RPL10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 3024241	NM_006013.5(RPL10):c.214G>A (p.Ala72Thr)	RPL10 (A36T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, 35 +1 more	GUncertain significance
Select item 2685779	GRCh37/hg19 Xq28(chrX:153606456-153828848)x2	ATP6AP1, CTAG1A +13 more	Copy number gain	not provided	GPathogenic
Select item 2685778	GRCh37/hg19 Xq28(chrX:153549167-153858492)x2	ATP6AP1, CTAG1A +16 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 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 2685025	GRCh37/hg19 Xq28(chrX:153613883-153862775)x3	CTAG1B, DNASE1L1 +13 more	Copy number gain	not provided	GPathogenic
Select item 2661801	NM_006013.5(RPL10):c.*163C>T	RPL10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661800	NM_006013.5(RPL10):c.*1G>A	RPL10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2629407	NM_006013.5(RPL10):c.329+6C>G	RPL10	Single nucleotide variant (intron variant)	RPL10-related condition	GUncertain significance
Select item 2609304	NM_006013.5(RPL10):c.42C>A (p.Asn14Lys)	RPL10 (N14K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2572018	GRCh37/hg19 Xq28(chrX:153566798-153748208)x4	ATP6AP1, DNASE1L1 +11 more	Copy number gain	Chromosome Xq28 duplication syndrome	Gnot provided
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2425259	NC_000023.10:g.(?_153195397)_(153642547_?)dup	IRAK1, TKTL1 +14 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2424174	NC_000023.10:g.(?_153585782)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	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 2422371	NC_000023.10:g.(?_153357622)_(153664237_?)dup	OPN1MW, OPN1MW2 +10 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	FAM3A, CMC4 +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	3-Methylglutaconic aciduria type 2 +8 more	GPathogenic
Select item 2291356	NM_006013.5(RPL10):c.561A>C (p.Glu187Asp)	RPL10 (E151D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234615	NM_006013.5(RPL10):c.224A>T (p.Tyr75Phe)	RPL10 (Y39F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1808427	GRCh37/hg19 Xq28(chrX:153282944-153681801)x3	ATP6AP1, DNASE1L1 +13 more	Copy number gain	not provided	GPathogenic
Select item 1807675	GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	ATP6AP1, BRCC3 +33 more	Copy number gain	not provided	GPathogenic
Select item 1806502	NM_006013.5(RPL10):c.-24+2T>G	LOC130068867, RPL10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1802573	NM_006013.5(RPL10):c.535G>A (p.Asp179Asn)	RPL10 (D143N +1 more)	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 1792661	NM_006013.5(RPL10):c.252C>T (p.Gly84=)	RPL10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1752694	NM_006013.5(RPL10):c.629G>A (p.Arg210Gln)	RPL10 (R174Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GBenign
Select item 1722764	GRCh37/hg19 Xq28(chrX:153560562-153864851)x3	CTAG1A, CTAG1B +15 more	Copy number gain	Septo-optic dysplasia sequence	GLikely pathogenic
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1710514	GRCh37/hg19 Xq28(chrX:153575641-153645284)x2	DNASE1L1, EMD +3 more	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
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 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic
Select item 1695898	GRCh37/hg19 Xq28(chrX:153529891-155114697)x3	SMIM9, TAFAZZIN +36 more	Copy number gain	not provided	Gnot provided
Select item 1695325	NM_006013.5(RPL10):c.190+4dup	RPL10	Duplication (intron variant)	not provided	GLikely benign
Select item 1690503	NM_006013.5(RPL10):c.191-10C>T	RPL10	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 1686314	NM_006013.5(RPL10):c.628C>T (p.Arg210Trp)	RPL10 (R174W +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GBenign
Select item 1685077	NM_006013.5(RPL10):c.24-13C>T	RPL10	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1684654	Single allele	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
Select item 1679194	NM_006013.5(RPL10):c.218A>C (p.Asn73Thr)	RPL10 (N37T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 1500301	NC_000023.10:g.(?_153577211)_(153640295_?)dup	DNASE1L1, EMD +3 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1341085	GRCh37/hg19 Xq28(chrX:153093501-153792322)x2	ARHGAP4, ATP6AP1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1327969	NM_006013.5(RPL10):c.-24+3G>A	LOC130068867, RPL10	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, 35	GBenign
Select item 1314146	NM_006013.5(RPL10):c.121G>A (p.Ala41Thr)	RPL10 (A41T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311386	NM_006013.5(RPL10):c.467A>C (p.Lys156Thr)	RPL10 (K120T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1215891	NM_006013.5(RPL10):c.484C>T (p.Arg162Cys)	RPL10 (R126C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1211088	NM_006013.5(RPL10):c.482G>A (p.Gly161Asp)	RPL10 (G125D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1176612	NM_006013.5(RPL10):c.190+7C>T	RPL10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1031592	NM_006013.5(RPL10):c.347G>A (p.Arg116Gln)	RPL10 (R80Q +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 1028473	NM_006013.5(RPL10):c.191-5C>T	RPL10	Single nucleotide variant (intron variant)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 1014944	NC_000023.10:g.(?_153579929)_(153649363_?)dup	DNASE1L1, EMD +3 more	Duplication	Melnick-Needles syndrome +4 more	GUncertain significance
Select item 1013587	GRCh37/hg19 Xq28(chrX:153263517-155260560)x2	H2AB3, IKBKG +43 more	Copy number gain	Intellectual disability	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 985712	NM_006013.5(RPL10):c.479C>G (p.Pro160Arg)	RPL10 (P124R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 977077	NM_006013.5(RPL10):c.578A>G (p.Asp193Gly)	RPL10 (D157G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic, 35	GUncertain significance
Select item 931462	NM_006013.5(RPL10):c.236G>C (p.Ser79Thr)	RPL10 (S43T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, 35 +1 more	GUncertain significance
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 831241	NC_000023.10:g.(?_152990712)_(153650075_?)dup	DNASE1L1, EMD +23 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 831079	NC_000023.10:g.(?_153577207)_(153642537_?)dup	DNASE1L1, EMD +3 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 818225	NM_006013.5(RPL10):c.565C>T (p.Arg189Trp)	RPL10 (R153W +1 more)	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, X-linked, syndromic, 35	GLikely pathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 807866	NM_006013.5(RPL10):c.251G>A (p.Gly84Asp)	RPL10 (G84D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807865	NM_006013.5(RPL10):c.-4C>T	RPL10	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 769187	NM_006013.5(RPL10):c.605G>A (p.Ser202Asn)	RPL10 (S202N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 764829	NM_006013.5(RPL10):c.330-7A>G	RPL10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 760581	NM_006013.5(RPL10):c.24-10T>C	RPL10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739433	NM_006013.5(RPL10):c.630G>A (p.Arg210=)	RPL10 (G156E)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686884	GRCh37/hg19 Xq28(chrX:153609873-153815499)x3	ATP6AP1, CTAG1A +13 more	Copy number gain	not provided	GUncertain significance
Select item 686720	GRCh37/hg19 Xq28(chrX:153255132-153636707)x3	DNASE1L1, EMD +9 more	Copy number gain	not provided	GPathogenic
Select item 686319	GRCh37/hg19 Xq28(chrX:153566612-153731506)x2	RPL10, SLC10A3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 685262	GRCh37/hg19 Xq28(chrX:153556428-153868487)x2	ATP6AP1, CTAG1A +16 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 665050	NC_000023.10:g.(?_152990712)_(153650075_?)del	TMEM187, ABCD1 +23 more	Deletion	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic

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