ClinVar for Gene (Select 6748) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 342

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343638	NM_006280.3(SSR4):c.332C>T (p.Ser111Phe)	SSR4 (S111F +2 more)	Single nucleotide variant (missense variant +1 more)	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 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	ABCD1, ARHGAP4 +40 more	Deletion	Adrenoleukodystrophy +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 3234963	NM_006280.3(SSR4):c.262-3C>G	SSR4	Single nucleotide variant (intron variant)	SSR4-congenital disorder of glycosylation	GUncertain significance
Select item 3170492	NM_006280.3(SSR4):c.327G>C (p.Glu109Asp)	SSR4 (E120D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170491	NM_006280.3(SSR4):c.278A>G (p.Asp93Gly)	SSR4 (D101G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170490	NM_006280.3(SSR4):c.80T>C (p.Leu27Pro)	SSR4 (L38P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3108029	NM_004135.4(IDH3G):c.37G>C (p.Ala13Pro)	IDH3G, SSR4 (A13P)	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 3052644	NM_006280.3(SSR4):c.39C>G (p.Leu13=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	SSR4-related disorder	GLikely benign
Select item 3030643	NM_006280.3(SSR4):c.388C>T (p.Pro130Ser)	SSR4 (P130S +2 more)	Single nucleotide variant (missense variant +1 more)	SSR4-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CPXCR1, MAGEE2 +488 more	Copy number gain	not provided	GPathogenic
Select item 3002014	NM_006280.3(SSR4):c.516G>A (p.Gln172=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2908522	NM_006280.3(SSR4):c.-4GGCGATGGC[3] (p.Ala5_Ser6insAlaMetAla)	SSR4	Microsatellite (inframe_insertion +2 more)	not provided	GLikely benign
Select item 2879286	NM_006280.3(SSR4):c.68-11C>T	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878131	NM_006280.3(SSR4):c.351+15A>T	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813819	NC_000023.11:g.153794662C>T	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805259	NM_006280.3(SSR4):c.322G>A (p.Asp108Asn)	SSR4 (D116N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2706042	NM_006280.3(SSR4):c.120C>G (p.Asp40Glu)	SSR4 (D48E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2693082	NC_000023.11:g.153794656C>G	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2691389	NM_006280.3(SSR4):c.480C>G (p.Ile160Met)	SSR4 (I160M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2663294	NM_006280.3(SSR4):c.504G>C (p.Lys168Asn)	SSR4 (K168N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661734	NM_006280.3(SSR4):c.207C>T (p.Asp69=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2630076	NM_006280.3(SSR4):c.478A>G (p.Ile160Val)	SSR4 (I160V +2 more)	Single nucleotide variant (missense variant +1 more)	SSR4-related disorder	GUncertain significance
Select item 2629776	NM_006280.3(SSR4):c.-14G>T	SSR4 (G7V +1 more)	Single nucleotide variant (missense variant +2 more)	SSR4-related disorder	GUncertain significance
Select item 2581408	NM_006280.3(SSR4):c.257A>T (p.Tyr86Phe)	SSR4 (Y86F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572630	NM_006280.3(SSR4):c.235C>T (p.Arg79Ter)	SSR4 (R79* +2 more)	Single nucleotide variant (nonsense +1 more)	SSR4-congenital disorder of glycosylation	GLikely pathogenic
Select item 2507290	NM_006280.3(SSR4):c.97C>T (p.Pro33Ser)	SSR4 (P33S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2441661	NM_006280.3(SSR4):c.270G>A (p.Trp90Ter)	SSR4 (W101* +2 more)	Single nucleotide variant (nonsense +1 more)	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, CLIC2 +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 2347022	NM_006280.3(SSR4):c.67+2T>C	SSR4	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2295641	NM_006280.3(SSR4):c.136G>A (p.Glu46Lys)	SSR4 (E54K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285036	NM_006280.3(SSR4):c.70G>A (p.Glu24Lys)	SSR4 (E35K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283389	NM_006280.3(SSR4):c.32C>T (p.Ala11Val)	SSR4 (A19V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282284	NM_006280.3(SSR4):c.247G>T (p.Val83Leu)	SSR4 (V91L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227728	NM_006280.3(SSR4):c.472C>T (p.Leu158Phe)	SSR4 (L158F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201570	NM_006280.3(SSR4):c.387G>A (p.Pro129=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2173716	NC_000023.11:g.153794596G>C	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169924	NM_006280.3(SSR4):c.498T>C (p.Ser166=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2146745	NM_006280.3(SSR4):c.288C>T (p.Ser96=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2086934	NM_006280.3(SSR4):c.186+14G>A	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072633	NM_006280.3(SSR4):c.186+12G>A	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2059113	NM_006280.3(SSR4):c.351+8C>G	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2000842	NM_006280.3(SSR4):c.79C>T (p.Leu27=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1991997	NM_006280.3(SSR4):c.289G>A (p.Ala97Thr)	SSR4 (A105T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1991520	NM_006280.3(SSR4):c.465G>A (p.Ala155=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981885	NM_006280.3(SSR4):c.314G>A (p.Arg105Lys)	SSR4 (R113K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1948733	NC_000023.11:g.153794663T>C	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1878511	NC_000023.11:g.153778282_153795224del	IDH3G, PLXNB3 +2 more	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1878510	NC_000023.11:g.153757300_153778281inv	PLXNB3, PLXNB3-AS1 +1 more	Inversion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1878509	NC_000023.11:g.153757278_153757299del	SSR4	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1810417	Multiple alleles	SSR4, PLXNB3 +3 more	Deletion	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 1809108	GRCh37/hg19 Xq28(chrX:152805142-153200052)x2	ABCD1, ARHGAP4 +14 more	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 1806350	NM_006280.3(SSR4):c.429C>A (p.Asn143Lys)	SSR4 (N143K +2 more)	Single nucleotide variant (missense variant +1 more)	SSR4-congenital disorder of glycosylation	GUncertain significance
Select item 1805820	NM_006280.3(SSR4):c.482A>G (p.Tyr161Cys)	SSR4 (Y161C +2 more)	Single nucleotide variant (missense variant +1 more)	SSR4-congenital disorder of glycosylation	GUncertain significance
Select item 1717025	NM_006280.3(SSR4):c.409G>A (p.Asp137Asn)	SSR4 (D137N +2 more)	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 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706820	NM_006280.3(SSR4):c.68-172T>C	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1705944	GRCh37/hg19 Xq28(chrX:152228560-153146794)x2	DUSP9, HAUS7 +20 more	Copy number gain	Autism	GUncertain significance
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 1702650	NM_006280.3(SSR4):c.433C>A (p.Pro145Thr)	SSR4 (P145T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1696447	NM_006280.3(SSR4):c.194C>T (p.Ala65Val)	SSR4 (A65V +2 more)	Single nucleotide variant (missense variant +1 more)	SSR4-congenital disorder of glycosylation	GUncertain significance
Select item 1684654	Single allele	HCFC1-AS1, IDH3G +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1667085	NM_006280.3(SSR4):c.418-12_418-10del	SSR4	Deletion (intron variant)	not provided	GBenign
Select item 1621369	NM_006280.3(SSR4):c.324C>T (p.Asp108=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1598858	NM_006280.3(SSR4):c.352-18C>T	SSR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1587738	NM_006280.3(SSR4):c.68-4G>A	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585483	NM_006280.3(SSR4):c.132C>T (p.Ser44=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1579775	NM_006280.3(SSR4):c.352-9C>T	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563881	NM_006280.3(SSR4):c.352-11C>G	SSR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526872	GRCh37/hg19 Xq28(chrX:152970475-153524157)	ABCD1, ARHGAP4 +19 more	Copy number gain	not specified	GPathogenic
Select item 1513215	NM_006280.3(SSR4):c.185A>G (p.Gln62Arg)	SSR4 (Q70R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1452967	NM_006280.3(SSR4):c.184C>T (p.Gln62Ter)	SSR4 (Q62* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1443444	NM_006280.3(SSR4):c.496A>G (p.Ser166Gly)	SSR4 (S166G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 4