ClinVar for Gene (Select 6594) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320671	NM_001282874.2(SMARCA1):c.3082A>G (p.Met1028Val)	SMARCA1 (M1016V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320670	NM_001282874.2(SMARCA1):c.2502G>C (p.Lys834Asn)	SMARCA1 (K822N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320669	NM_001282874.2(SMARCA1):c.750A>C (p.Glu250Asp)	SMARCA1 (E250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257787	NM_001282874.2(SMARCA1):c.776G>A (p.Arg259His)	SMARCA1 (R259H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance OUncertain significance
Select item 3257786	NM_001282874.2(SMARCA1):c.1861C>T (p.Arg621Cys)	SMARCA1 (R621C +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3250360	NM_001282874.2(SMARCA1):c.193C>T (p.Gln65Ter)	SMARCA1 (Q65*)	Single nucleotide variant (nonsense)	Non-syndromic X-linked intellectual disability	GLikely pathogenic
Select item 3250359	NM_001282874.2(SMARCA1):c.413T>G (p.Leu138Ter)	SMARCA1 (L138*)	Single nucleotide variant (nonsense)	Non-syndromic X-linked intellectual disability	GLikely pathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3166271	NM_001282874.2(SMARCA1):c.55G>A (p.Ala19Thr)	SMARCA1 (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166270	NM_001282874.2(SMARCA1):c.236T>C (p.Met79Thr)	SMARCA1 (M79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166269	NM_001282874.2(SMARCA1):c.157G>A (p.Gly53Ser)	SMARCA1 (G53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166268	NM_001282874.2(SMARCA1):c.1574G>A (p.Arg525His)	SMARCA1 (R525H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166267	NM_001282874.2(SMARCA1):c.139A>G (p.Thr47Ala)	SMARCA1 (T47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166266	NM_001282874.2(SMARCA1):c.1304T>C (p.Ile435Thr)	SMARCA1 (I435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166265	NM_001282874.2(SMARCA1):c.10G>A (p.Asp4Asn)	SMARCA1 (D4N)	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 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	TAF9B, ARMCX2 +488 more	Copy number gain	not provided	GPathogenic
Select item 2690042	NM_001282874.2(SMARCA1):c.279G>C (p.Lys93Asn)	SMARCA1 (K93N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2661392	NM_001282874.2(SMARCA1):c.143C>A (p.Ala48Glu)	SMARCA1 (A48E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2661391	NM_001282874.2(SMARCA1):c.1164T>C (p.His388=)	SMARCA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661390	NM_001282874.2(SMARCA1):c.1926C>T (p.Leu642=)	SMARCA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661389	NM_001282874.2(SMARCA1):c.3021G>A (p.Arg1007=)	SMARCA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631291	NM_001282874.2(SMARCA1):c.878T>C (p.Val293Ala)	SMARCA1 (V293A)	Single nucleotide variant (missense variant)	SMARCA1-related disorder	GUncertain significance
Select item 2624006	NM_001282874.2(SMARCA1):c.776G>C (p.Arg259Pro)	SMARCA1 (R259P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622076	NM_001282874.2(SMARCA1):c.1669A>G (p.Ile557Val)	SMARCA1 (I545V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621530	NM_001282874.2(SMARCA1):c.35T>C (p.Val12Ala)	SMARCA1 (V12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606760	NM_001282874.2(SMARCA1):c.928A>G (p.Ile310Val)	SMARCA1 (I310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588416	NM_001282874.2(SMARCA1):c.2267A>G (p.Asn756Ser)	SMARCA1 (N744S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568760	NM_001282874.2(SMARCA1):c.133G>A (p.Glu45Lys)	SMARCA1 (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551553	NM_001282874.2(SMARCA1):c.2489A>G (p.Glu830Gly)	SMARCA1 (E818G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551241	NM_001282874.2(SMARCA1):c.1610C>T (p.Pro537Leu)	SMARCA1 (P537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541165	NM_001282874.2(SMARCA1):c.88G>A (p.Gly30Arg)	SMARCA1 (G30R)	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 2441856	NM_001282874.2(SMARCA1):c.3068T>C (p.Ile1023Thr)	SMARCA1 (I1011T +1 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability	GUncertain significance
Select item 2391066	NM_001282874.2(SMARCA1):c.2942G>A (p.Arg981Lys)	SMARCA1 (R969K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378699	NM_001282874.2(SMARCA1):c.2518C>T (p.Pro840Ser)	SMARCA1 (P828S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307607	NM_001282874.2(SMARCA1):c.1933A>G (p.Ile645Val)	SMARCA1 (I633V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297822	NM_001282874.2(SMARCA1):c.2423G>A (p.Arg808Gln)	SMARCA1 (R808Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263162	NM_001282874.2(SMARCA1):c.1967A>G (p.Gln656Arg)	SMARCA1 (Q644R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809650	NM_001282874.2(SMARCA1):c.916C>T (p.Arg306Ter)	SMARCA1 (R306*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1809370	GRCh37/hg19 Xq25(chrX:128374291-128622922)x2	SMARCA1	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 1807959	GRCh37/hg19 Xq25-26.1(chrX:127753972-129202285)x2	SASH3, APLN +7 more	Copy number gain	not provided	GUncertain significance
Select item 1711719	NM_001282874.2(SMARCA1):c.349C>G (p.Pro117Ala)	SMARCA1 (P117A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1703068	NM_001282874.2(SMARCA1):c.2098-7C>T	SMARCA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1526848	GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)	ACTRT1, AIFM1 +22 more	Copy number gain	not specified	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 1340526	GRCh37/hg19 Xq25-26.1(chrX:127435040-128717825)x0	OCRL, SMARCA1	Copy number loss	not provided	GPathogenic
Select item 1328219	NM_001282874.2(SMARCA1):c.1430C>G (p.Thr477Ser)	SMARCA1 (T477S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1240406	NM_001282874.2(SMARCA1):c.2161G>A (p.Asp721Asn)	SMARCA1 (D709N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184430	NM_001282874.2(SMARCA1):c.2217G>A (p.Lys739=)	SMARCA1	Single nucleotide variant (synonymous variant)	See cases	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 998173	NM_001282874.2(SMARCA1):c.2354A>G (p.Asn785Ser)	SMARCA1 (N773S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998172	NM_001282874.2(SMARCA1):c.1874A>G (p.Asp625Gly)	SMARCA1 (D613G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 980319	GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3	C1GALT1C1, CT47A1 +69 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 928515	NM_001282874.2(SMARCA1):c.2038A>G (p.Lys680Glu)	SMARCA1 (K668E +1 more)	Single nucleotide variant (missense variant)	not specified	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 871640	NM_001282874.2(SMARCA1):c.3084G>T (p.Met1028Ile)	SMARCA1 (M1028I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816391	GRCh37/hg19 Xq25(chrX:128221372-128591582)x2	SMARCA1	Copy number gain	not provided	GUncertain significance
Select item 816390	GRCh37/hg19 Xq25(chrX:128210719-128669654)x2	SMARCA1	Copy number gain	not provided	GUncertain significance
Select item 816389	GRCh37/hg19 Xq25-26.1(chrX:128194529-129017909)x3	SMARCA1, APLN +4 more	Copy number gain	not provided	GUncertain significance
Select item 816382	GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2	ACTRT1, AIFM1 +69 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 807813	NM_001282874.2(SMARCA1):c.115G>A (p.Ala39Thr)	SMARCA1 (A39T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 754843	NM_001282874.2(SMARCA1):c.1608C>T (p.Thr536=)	SMARCA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 753649	NM_001282874.2(SMARCA1):c.823C>T (p.Arg275Cys)	SMARCA1 (R275C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 743662	NM_001282874.2(SMARCA1):c.1329G>A (p.Lys443=)	SMARCA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739400	NM_001282874.2(SMARCA1):c.2566-9T>G	SMARCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727875	NM_001282874.2(SMARCA1):c.2409A>G (p.Glu803=)	SMARCA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722474	NM_001282874.2(SMARCA1):c.1504+7A>G	SMARCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722222	NM_001282874.2(SMARCA1):c.2324C>A (p.Pro775Gln)	SMARCA1 (P775Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710616	NM_001282874.2(SMARCA1):c.2510G>C (p.Gly837Ala)	SMARCA1 (G825A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 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 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	AWAT2, BCAP31 +502 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 685050	GRCh37/hg19 Xq25(chrX:128381237-128612764)x0	SMARCA1	Copy number loss	not provided	GUncertain significance
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 564900	GRCh37/hg19 Xq25(chrX:128374241-128611994)x3	SMARCA1	Copy number gain	not provided	GUncertain significance

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