ClinVar for Gene (Select 10134) - 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 3366536	NC_000023.10:g.(?_152965946)_(152969550_152980996)dup	BCAP31	Duplication	not specified	GUncertain significance
Select item 3364990	NM_001256447.2(BCAP31):c.155T>C (p.Phe52Ser)	BCAP31 (F119S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364461	NM_001256447.2(BCAP31):c.469C>T (p.Leu157Phe)	BCAP31 (L157F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349339	NM_001256447.2(BCAP31):c.*4C>G	BCAP31	Single nucleotide variant (3 prime UTR variant)	BCAP31-related disorder	GLikely benign
Select item 3338048	NM_001256447.2(BCAP31):c.247C>T (p.Gln83Ter)	BCAP31 (Q150* +1 more)	Single nucleotide variant (nonsense)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	GLikely pathogenic
Select item 3260574	NM_001256447.2(BCAP31):c.580G>A (p.Glu194Lys)	BCAP31 (E261K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246429	NC_000023.10:g.(?_152853823)_(152981164_?)dup	BCAP31, CCNQ +3 more	Duplication	not provided	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 3244871	NC_000023.10:g.(?_152954030)_(153009189_?)dup	ABCD1, BCAP31 +1 more	Duplication	Creatine transporter deficiency	GUncertain significance
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 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 3133238	NM_001256447.2(BCAP31):c.733G>A (p.Glu245Lys)	BCAP31 (E245K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3133236	NM_001256447.2(BCAP31):c.205G>A (p.Glu69Lys)	BCAP31 (E136K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133235	NM_001256447.2(BCAP31):c.116G>A (p.Arg39Gln)	BCAP31 (R106Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133233	NM_001256447.2(BCAP31):c.-44-276A>G	BCAP31 (Q34R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068942	NM_001256447.2(BCAP31):c.-44-346C>T	BCAP31 (P11S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	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 3049953	NM_001256447.2(BCAP31):c.-12_-10del	BCAP31 (S65del)	Deletion (5 prime UTR variant)	BCAP31-related disorder	GLikely benign
Select item 3030873	NM_001256447.2(BCAP31):c.-44-322C>T	BCAP31 (R19C)	Single nucleotide variant (missense variant +1 more)	BCAP31-related disorder	GLikely benign
Select item 3029036	NM_001256447.2(BCAP31):c.703G>A (p.Ala235Thr)	BCAP31 (A235T +1 more)	Single nucleotide variant (missense variant)	BCAP31-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2997714	NM_001256447.2(BCAP31):c.153C>T (p.Phe51=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994994	NM_001256447.2(BCAP31):c.637C>T (p.Arg213Trp)	BCAP31 (R280W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967844	NM_001256447.2(BCAP31):c.341+10G>A	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966918	NM_001256447.2(BCAP31):c.342-4G>A	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962181	NM_001256447.2(BCAP31):c.342-15dup	BCAP31	Duplication (intron variant)	not provided	GBenign
Select item 2904327	NM_001256447.2(BCAP31):c.89A>G (p.Lys30Arg)	BCAP31 (K30R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900443	NM_001256447.2(BCAP31):c.212G>A (p.Arg71Gln)	BCAP31 (R71Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2897907	NM_001256447.2(BCAP31):c.92+7C>T	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887238	NM_001256447.2(BCAP31):c.309C>G (p.Leu103=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885140	NM_001256447.2(BCAP31):c.617A>G (p.Glu206Gly)	BCAP31 (E273G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874364	NM_001256447.2(BCAP31):c.704C>T (p.Ala235Val)	BCAP31 (A235V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866685	NM_001256447.2(BCAP31):c.500A>G (p.Lys167Arg)	BCAP31 (K234R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861839	NM_001256447.2(BCAP31):c.477+20C>A	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859283	NM_001256447.2(BCAP31):c.354C>A (p.Arg118=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857404	NM_001256447.2(BCAP31):c.477+6C>T	BCAP31	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2848617	NM_001256447.2(BCAP31):c.341+10G>T	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842573	NM_001256447.2(BCAP31):c.227T>C (p.Val76Ala)	BCAP31 (V76A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816477	NM_001256447.2(BCAP31):c.345G>A (p.Leu115=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812250	NM_001256447.2(BCAP31):c.118C>A (p.Leu40Met)	BCAP31 (L40M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793842	NM_001256447.2(BCAP31):c.601+10G>A	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784251	NM_001256447.2(BCAP31):c.202C>T (p.Arg68Cys)	BCAP31 (R135C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764998	NM_001256447.2(BCAP31):c.28A>G (p.Thr10Ala)	BCAP31 (T77A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712820	NM_001256447.2(BCAP31):c.366C>T (p.Leu122=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2707893	NM_001256447.2(BCAP31):c.719C>G (p.Pro240Arg)	BCAP31 (P307R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696767	NM_001256447.2(BCAP31):c.194-10T>A	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2685773	GRCh37/hg19 Xq28(chrX:152713659-153005670)x2	ABCD1, ATP2B3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685772	GRCh37/hg19 Xq28(chrX:152707335-153624154)x2	ABCD1, ARHGAP4 +29 more	Copy number gain	not provided	GPathogenic
Select item 2685726	GRCh37/hg19 Xq28(chrX:152957297-153030789)x1	ABCD1, BCAP31 +2 more	Copy number loss	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 2661712	NM_001256447.2(BCAP31):c.-44-377G>A	BCAP31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661711	NM_001256447.2(BCAP31):c.-44-357C>T	BCAP31 (S7F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2661710	NM_001256447.2(BCAP31):c.41C>G (p.Ala14Gly)	BCAP31 (A14G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661709	NM_001256447.2(BCAP31):c.714T>C (p.Asp238=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635594	NM_001256447.2(BCAP31):c.-44-256G>T	BCAP31 (A41S)	Single nucleotide variant (missense variant +1 more)	BCAP31-related disorder	GUncertain significance
Select item 2507208	NM_001256447.2(BCAP31):c.-45+249G>C	LOC130068831, BCAP31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2500712	NC_000023.11:g.153714363_153781647del	ABCD1, BCAP31 +8 more	Deletion	Severe motor and intellectual disabilities-sensorineural deafness-dystonia 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 2444719	NM_001256447.2(BCAP31):c.73C>A (p.Pro25Thr)	BCAP31 (P25T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439484	NM_001256447.2(BCAP31):c.709G>C (p.Val237Leu)	BCAP31 (V237L +1 more)	Single nucleotide variant (missense variant)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	GUncertain significance
Select item 2439483	NM_001256447.2(BCAP31):c.477+8del	BCAP31	Deletion (intron variant)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	GUncertain significance
Select item 2423824	NC_000023.10:g.(?_152986307)_(153009189_?)del	ABCD1, BCAP31	Deletion	not provided	GPathogenic
Select item 2423823	NC_000023.10:g.(?_152966392)_(152966450_?)del	BCAP31	Deletion	not provided	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 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 2422079	NM_001256447.2(BCAP31):c.165C>T (p.Leu55=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2414267	NM_001256447.2(BCAP31):c.719C>T (p.Pro240Leu)	BCAP31 (P240L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2414137	NM_001256447.2(BCAP31):c.706G>A (p.Ala236Thr)	BCAP31 (A236T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2413959	NM_001256447.2(BCAP31):c.341+7G>T	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2350910	NM_001256447.2(BCAP31):c.-44-238C>T	BCAP31 (H47Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2193141	NM_001256447.2(BCAP31):c.342-10A>C	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181644	NM_001256447.2(BCAP31):c.619A>G (p.Asn207Asp)	BCAP31 (N274D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2177356	NM_001256447.2(BCAP31):c.398A>G (p.Asn133Ser)	BCAP31 (N133S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2136299	NM_001256447.2(BCAP31):c.451A>G (p.Met151Val)	BCAP31 (M151V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132717	NM_001256447.2(BCAP31):c.355C>T (p.Leu119=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130100	NM_001256447.2(BCAP31):c.295del (p.Ala99fs)	BCAP31 (A166fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2126045	NM_001256447.2(BCAP31):c.602-9C>G	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109034	NM_001256447.2(BCAP31):c.41C>T (p.Ala14Val)	BCAP31 (A14V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093059	NM_001256447.2(BCAP31):c.78C>A (p.Phe26Leu)	BCAP31 (F93L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075685	NM_001256447.2(BCAP31):c.42G>A (p.Ala14=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062059	NM_001256447.2(BCAP31):c.602-16T>C	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031768	NM_001256447.2(BCAP31):c.601+15C>T	BCAP31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030101	NM_001256447.2(BCAP31):c.615T>C (p.Ala205=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015045	NM_001256447.2(BCAP31):c.540G>C (p.Glu180Asp)	BCAP31 (E180D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010989	NM_001256447.2(BCAP31):c.477+1G>C	BCAP31	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2003212	NM_001256447.2(BCAP31):c.720dup (p.Met241fs)	BCAP31 (M308fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1998190	NM_001256447.2(BCAP31):c.472A>G (p.Lys158Glu)	BCAP31 (K158E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990495	NM_001256447.2(BCAP31):c.372G>A (p.Ser124=)	BCAP31	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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