ClinVar for Gene (Select 2332) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062552	GRCh37/hg19 Xq27.3-28(chrX:144487227-148811395)	AFF2, CXorf51A +16 more	Copy number gain	not specified	GLikely pathogenic
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 3059736	NM_002024.6(FMR1):c.420-11del	FMR1	Deletion (intron variant)	FMR1-related condition	GBenign
Select item 3030246	NM_002024.6(FMR1):c.1231G>A (p.Ala411Thr)	FMR1 (A390T +1 more)	Single nucleotide variant (missense variant +1 more)	FMR1-related condition	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2692303	NM_002024.6(FMR1):c.513+5G>A	FMR1	Single nucleotide variant (intron variant)	Fragile X syndrome	GUncertain significance
Select item 2685723	GRCh37/hg19 Xq27.3(chrX:146717400-147000407)x1	FMR1, FMR1-AS1	Copy number loss	not provided	GLikely pathogenic
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 2665033	GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)	AFF2, CXorf51A +74 more	Copy number gain	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 2663123	NM_002024.6(FMR1):c.300T>G (p.Asp100Glu)	FMR1 (D100E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2662825	NM_002024.6(FMR1):c.1439G>A (p.Gly480Glu)	FMR1 (G459E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661594	NM_002024.6(FMR1):c.1126-1G>A	FMR1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely benign
Select item 2661593	NM_002024.6(FMR1):c.930G>A (p.Lys310=)	FMR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661592	NM_002024.6(FMR1):c.795T>C (p.Tyr265=)	FMR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661591	NM_002024.6(FMR1):c.-98GGC[9]	FMR1, FRAXA +1 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661590	NM_002024.6(FMR1):c.-102C>A	FMR1, FRAXA +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661589	NM_002024.6(FMR1):c.-99_-94del	FMR1, FRAXA +2 more	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661588	NM_002024.6(FMR1):c.-110_-103GGC[2]GGAGGCGGCGG[1]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661587	NM_002024.6(FMR1):c.-117C>A	FMR1, FRAXA +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2633326	NM_002024.6(FMR1):c.1032G>C (p.Arg344Ser)	FMR1 (R344S)	Single nucleotide variant (missense variant +1 more)	FMR1-related condition	GUncertain significance
Select item 2628570	NM_002024.6(FMR1):c.578G>A (p.Arg193His)	FMR1 (R193H)	Single nucleotide variant (non-coding transcript variant +1 more)	FMR1-related condition	GUncertain significance
Select item 2614129	NM_002024.6(FMR1):c.1576C>A (p.Leu526Met)	FMR1 (L480M +2 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2580155	NM_002024.6(FMR1):c.1691G>A (p.Arg564His)	FMR1 (R518H +4 more)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GUncertain significance
Select item 2579107	NM_002024.6(FMR1):c.-111C>A	FMR1, FRAXA +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2578091	NM_002024.6(FMR1):c.378C>A (p.Phe126Leu)	FMR1 (F126L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574375	NM_002024.6(FMR1):c.545A>G (p.His182Arg)	FMR1 (H182R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573912	NM_002024.6(FMR1):c.358C>A (p.Pro120Thr)	FMR1 (P120T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571382	NM_002024.6(FMR1):c.309C>T (p.Tyr103=)	FMR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2541369	NM_002024.6(FMR1):c.1124G>T (p.Arg375Met)	FMR1 (R375M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2506275	NM_002024.6(FMR1):c.1109G>A (p.Ser370Asn)	FMR1 (S370N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504902	NM_002024.6(FMR1):c.990+1G>T	FMR1	Single nucleotide variant (splice donor variant)	not provided	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 2481294	NM_002024.6(FMR1):c.1013T>C (p.Leu338Pro)	FMR1 (L338P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463538	NM_002024.6(FMR1):c.508A>C (p.Ile170Leu)	FMR1 (I170L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2441534	NM_002024.6(FMR1):c.1816C>T (p.Arg606Cys)	FMR1 (R560C +2 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2441533	NM_002024.6(FMR1):c.1126-2A>T	FMR1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2441532	NM_002024.6(FMR1):c.1832G>T (p.Arg611Leu)	FMR1 (R565L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2273924	NM_002024.6(FMR1):c.967G>C (p.Glu323Gln)	FMR1 (E323Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230885	NM_002024.6(FMR1):c.631-3dup	FMR1	Duplication (intron 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 1808671	GRCh37/hg19 Xq27.1-28(chrX:139493806-148855992)x1	AFF2, CDR1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1807692	GRCh37/hg19 Xq27.1-28(chrX:139504564-149382013)x2	AFF2, CDR1 +37 more	Copy number gain	not provided	GPathogenic
Select item 1802576	NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)	FMR1 (R421Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1801490	NM_002024.6(FMR1):c.663del (p.Glu221fs)	FMR1 (E221fs)	Deletion (frameshift variant +1 more)	Intellectual disability	GPathogenic
Select item 1801489	NM_002024.6(FMR1):c.1622_1636del (p.Gln541_Gly545del)	FMR1	Deletion (inframe_deletion +1 more)	Fragile X-associated tremor/ataxia syndrome	GLikely pathogenic
Select item 1801484	NM_002024.6(FMR1):c.673G>A (p.Val225Ile)	FMR1 (V225I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely pathogenic
Select item 1780757	NM_002024.6(FMR1):c.1820C>T (p.Thr607Met)	FMR1 (T586M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1777721	NM_002024.6(FMR1):c.1672C>A (p.Arg558=)	FMR1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1777275	NM_002024.6(FMR1):c.1652A>G (p.Lys551Arg)	FMR1 (K461E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1777042	NM_002024.6(FMR1):c.1641A>G (p.Gly547=)	FMR1 (E436G +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1763358	NM_002024.6(FMR1):c.1022A>G (p.Asn341Ser)	FMR1 (N341S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1758600	NM_002024.6(FMR1):c.737A>G (p.Lys246Arg)	FMR1 (K246R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1753571	NM_002024.6(FMR1):c.1223A>G (p.Asp408Gly)	FMR1 (D408G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1744341	NM_002024.6(FMR1):c.1189G>A (p.Gly397Ser)	FMR1 (G397S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1739923	NM_002024.6(FMR1):c.434C>T (p.Ala145Val)	FMR1 (A145V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1735127	NM_002024.6(FMR1):c.380A>G (p.His127Arg)	FMR1 (H127R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1723506	NM_002024.6(FMR1):c.66T>A (p.Asp22Glu)	FMR1 (D22E)	Single nucleotide variant (missense variant +1 more)	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 1708227	NM_002024.6(FMR1):c.1268_1269del (p.Tyr423fs)	FMR1 (Y402fs +1 more)	Deletion (frameshift variant +1 more)	Fragile X syndrome	GLikely pathogenic
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 1701686	NM_002024.6(FMR1):c.413G>A (p.Arg138Gln)	FMR1 (R138Q)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GUncertain significance
Select item 1699508	NM_002024.6(FMR1):c.188A>G (p.Asp63Gly)	FMR1 (D63G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1698834	NM_002024.6(FMR1):c.1831C>T (p.Arg611Cys)	FMR1 (R565C +2 more)	Single nucleotide variant (synonymous variant +2 more)	Fragile X syndrome	GUncertain significance
Select item 1695614	NM_002024.6(FMR1):c.1037G>A (p.Gly346Glu)	FMR1 (G346E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695320	NM_002024.6(FMR1):c.-99_-82del	FMR1, FRAXA +2 more	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1690568	NM_002024.6(FMR1):c.1655-2A>G	FMR1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1676786	NM_002024.6(FMR1):c.786T>G (p.Phe262Leu)	FMR1 (F262L)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GUncertain significance
Select item 1526864	GRCh37/hg19 Xq27.3(chrX:146930611-147023367)	FMR1, FMR1-AS1	Copy number loss	not specified	GPathogenic
Select item 1526863	GRCh37/hg19 Xq27.3-28(chrX:146752853-150192253)	AFF2, CD99L2 +17 more	Copy number loss	not specified	GPathogenic
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 1336166	NM_002024.6(FMR1):c.105-8A>C	FMR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1336074	NM_002024.6(FMR1):c.714T>C (p.Gly238=)	FMR1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1326069	NM_002024.6(FMR1):c.272T>C (p.Phe91Ser)	FMR1 (F91S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308996	NM_002024.6(FMR1):c.101A>G (p.Asn34Ser)	FMR1 (N34S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308829	NM_002024.6(FMR1):c.1463A>G (p.Tyr488Cys)	FMR1 (Y467C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305423	NM_002024.6(FMR1):c.1055A>G (p.Glu352Gly)	FMR1 (E352G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304008	NM_002024.6(FMR1):c.71A>G (p.His24Arg)	FMR1 (H24R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303048	NC_000023.11:g.147911887T>C	FMR1, LOC107032825 +1 more	Single nucleotide variant	not provided	GUncertain significance
Select item 1295045	NM_002024.6(FMR1):c.419+204G>A	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284107	NM_002024.6(FMR1):c.1125+73G>A	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280182	NM_002024.6(FMR1):c.881-94C>T	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280078	NM_002024.6(FMR1):c.1188+94G>C	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272795	NM_002024.6(FMR1):c.-98GGC[11]	FMR1, FRAXA +1 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1265113	NM_002024.6(FMR1):c.420-286=	FMR1	Deletion (intron variant)	not provided	GBenign
Select item 1259998	NM_002024.6(FMR1):c.1472-123=	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255083	NM_002024.6(FMR1):c.880+239T>C	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253409	NM_002024.6(FMR1):c.1276-93A>T	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239707	NM_002024.6(FMR1):c.104+291T>C	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237682	NM_002024.6(FMR1):c.104+61=	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224679	NM_002024.6(FMR1):c.52-112A>G	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign

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