ClinVar for Gene (Select 8269) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3326896	NM_003492.3(TMEM187):c.404G>A (p.Arg135His)	TMEM187 (R135H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326895	NM_003492.3(TMEM187):c.178G>A (p.Val60Met)	TMEM187 (V60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326894	NM_003492.3(TMEM187):c.194C>T (p.Thr65Met)	TMEM187 (T65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245014	NC_000023.10:g.(?_152482081)_(153416424_?)del	ABCD1, ARHGAP4 +27 more	Deletion	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	SSR4, TEX28 +40 more	Deletion	Spastic paraplegia +6 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3179057	NM_003492.3(TMEM187):c.97G>A (p.Val33Met)	TMEM187 (V33M)	Single nucleotide variant (missense variant)	not specified	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 3067606	NM_003492.3(TMEM187):c.505G>A (p.Ala169Thr)	TMEM187 (A169T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	GPathogenic
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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
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 2661778	NM_003492.3(TMEM187):c.123C>T (p.Ala41=)	TMEM187	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616026	NM_003492.3(TMEM187):c.578A>G (p.Tyr193Cys)	TMEM187 (Y193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597993	NM_003492.3(TMEM187):c.533C>T (p.Ala178Val)	TMEM187 (A178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580330	GRCh37/hg19 Xq28(chrX:153247464-153522710)x3	IRAK1, MECP2 +5 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 2580294	GRCh37/hg19 Xq28(chrX:153217915-153618382)x2	EMD, FLNA +9 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2559608	NM_003492.3(TMEM187):c.734C>A (p.Thr245Lys)	TMEM187 (T245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555374	NM_003492.3(TMEM187):c.295G>C (p.Val99Leu)	TMEM187 (V99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538713	NM_003492.3(TMEM187):c.662A>G (p.Gln221Arg)	TMEM187 (Q221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 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 2478847	NM_003492.3(TMEM187):c.714C>A (p.His238Gln)	TMEM187 (H238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425259	NC_000023.10:g.(?_153195397)_(153642547_?)dup	EMD, DNASE1L1 +14 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2424175	NC_000023.10:g.(?_153195397)_(153583460_?)dup	OPN1LW, OPN1MW +10 more	Duplication	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2424169	NC_000023.10:g.(?_153128118)_(153664237_?)dup	DNASE1L1, EMD +18 more	Duplication	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	CMC4, CTAG1A +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2423047	NC_000023.10:g.(?_152954030)_(153283591_?)dup	ABCD1, ARHGAP4 +14 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	CTAG1A, CTAG1B +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422159	NC_000023.10:g.(?_152014869)_(153363122_?)dup	ABCD1, ARHGAP4 +31 more	Duplication	not provided	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	Heterotopia, periventricular, X-linked dominant +8 more	GPathogenic
Select item 2389721	NM_003492.3(TMEM187):c.46G>A (p.Gly16Ser)	TMEM187 (G16S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379947	NM_003492.3(TMEM187):c.520G>A (p.Ala174Thr)	TMEM187 (A174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368749	NM_003492.3(TMEM187):c.220A>G (p.Arg74Gly)	TMEM187 (R74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363374	NM_003492.3(TMEM187):c.548G>A (p.Arg183Lys)	TMEM187 (R183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346429	NM_003492.3(TMEM187):c.77G>T (p.Gly26Val)	TMEM187 (G26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343797	NM_003492.3(TMEM187):c.162G>C (p.Met54Ile)	TMEM187 (M54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335571	NM_003492.3(TMEM187):c.329G>A (p.Arg110His)	TMEM187 (R110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309995	NM_003492.3(TMEM187):c.187G>A (p.Ala63Thr)	TMEM187 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300785	NM_003492.3(TMEM187):c.128C>T (p.Ala43Val)	TMEM187 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290881	NM_003492.3(TMEM187):c.164C>T (p.Pro55Leu)	TMEM187 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280765	NM_003492.3(TMEM187):c.335C>T (p.Ala112Val)	TMEM187 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277870	NM_003492.3(TMEM187):c.317C>T (p.Thr106Met)	TMEM187 (T106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276496	NM_003492.3(TMEM187):c.34G>C (p.Val12Leu)	TMEM187 (V12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255178	NM_003492.3(TMEM187):c.14G>C (p.Trp5Ser)	TMEM187 (W5S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248220	NM_003492.3(TMEM187):c.287A>G (p.Tyr96Cys)	TMEM187 (Y96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233626	NM_003492.3(TMEM187):c.772G>A (p.Gly258Arg)	TMEM187 (G258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207799	NM_003492.3(TMEM187):c.307C>T (p.Arg103Cys)	TMEM187 (R103C)	Single nucleotide variant (missense variant)	not specified	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 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	ABCB7, ABCD1 +790 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	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 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 1684654	Single allele	HCFC1-AS1, IDH3G +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1526877	GRCh37/hg19 Xq28(chrX:153135263-153594168)	ARHGAP4, AVPR2 +13 more	Copy number gain	not specified	GPathogenic
Select item 1526876	GRCh37/hg19 Xq28(chrX:153113943-153624020)	ARHGAP4, AVPR2 +14 more	Copy number gain	not specified	GPathogenic
Select item 1526875	GRCh37/hg19 Xq28(chrX:153105394-153421839)	ARHGAP4, AVPR2 +8 more	Copy number gain	not specified	GPathogenic
Select item 1526872	GRCh37/hg19 Xq28(chrX:152970475-153524157)	ABCD1, ARHGAP4 +19 more	Copy number gain	not specified	GPathogenic
Select item 1471983	NC_000023.10:g.(?_152986307)_(153593345_?)dup	IRAK1, OPN1MW2 +20 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	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	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1341091	GRCh37/hg19 Xq28(chrX:152740984-153431748)x2	ABCD1, ARHGAP4 +23 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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1077181	Single allele	ARHGAP4, AVPR2 +10 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 1065195	GRCh38/hg38 Xq28(chrX:153858452-154332213)x2	ARHGAP4, AVPR2 +41 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 1013586	GRCh37/hg19 Xq28(chrX:153194251-153623000)x2	OPN1LW, OPN1MW +11 more	Copy number gain	Intellectual disability	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 980886	GRCh37/hg19 Xq28(chrX:152631130-153240286)x3	ABCD1, ARHGAP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 980883	GRCh37/hg19 Xq28(chrX:153135257-153594096)x3	ARHGAP4, AVPR2 +13 more	Copy number gain	not provided	GPathogenic
Select item 980882	GRCh37/hg19 Xq28(chrX:153113943-153624215)x2	ARHGAP4, AVPR2 +14 more	Copy number gain	not provided	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 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 833488	NC_000023.10:g.(?_152954010)_(153363142_?)dup	ABCD1, ARHGAP4 +15 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 831241	NC_000023.10:g.(?_152990712)_(153650075_?)dup	ARHGAP4, ABCD1 +23 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 816414	GRCh37/hg19 Xq28(chrX:153029046-153567369)x3	PLXNB3, L1CAM +17 more	Copy number gain	not provided	GPathogenic
Select item 816413	GRCh37/hg19 Xq28(chrX:153023149-153345755)x2	ARHGAP4, HCFC1 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 816411	GRCh37/hg19 Xq28(chrX:152516781-153368573)x2	SSR4, ZNF275 +26 more	Copy number gain	not provided	GPathogenic
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 745182	NM_003492.3(TMEM187):c.780G>A (p.Thr260=)	TMEM187	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724521	NM_003492.3(TMEM187):c.466G>A (p.Ala156Thr)	TMEM187 (A156T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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