ClinVar for Gene (Select 347527) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 284

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148934	GRCh37/hg19 Xp22.33-22.32(chrX:1919821-4613977)x0	ARSD, ARSD-AS1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3148849	GRCh37/hg19 Xp22.33-22.32(chrX:168552-5388161)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	not provided	GPathogenic
Select item 3129910	NM_001011719.2(ARSH):c.815C>A (p.Thr272Asn)	ARSH (T272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129909	NM_001011719.2(ARSH):c.706A>G (p.Met236Val)	ARSH (M236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129908	NM_001011719.2(ARSH):c.481C>T (p.Arg161Cys)	ARSH (R161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129906	NM_001011719.2(ARSH):c.24C>G (p.Asn8Lys)	ARSH (N8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129905	NM_001011719.2(ARSH):c.193G>A (p.Gly65Ser)	ARSH (G65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129904	NM_001011719.2(ARSH):c.1660G>A (p.Glu554Lys)	ARSH (E554K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129903	NM_001011719.2(ARSH):c.1438C>G (p.Pro480Ala)	ARSH (P480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129902	NM_001011719.2(ARSH):c.1274A>G (p.His425Arg)	ARSH (H425R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129901	NM_001011719.2(ARSH):c.1241G>T (p.Arg414Met)	ARSH (R414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129900	NM_001011719.2(ARSH):c.1151T>C (p.Ile384Thr)	ARSH (I384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062543	GRCh37/hg19 Xp22.33-22.32(chrX:1734397-4958582)	ARSD, ARSD-AS1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062488	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7545375)	ARSD, ARSD-AS1 +11 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685728	GRCh37/hg19 Xp22.33(chrX:2469001-2932771)x2	ARSD, ARSD-AS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684963	GRCh37/hg19 Xp22.33(chrX:2627829-3074261)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684962	GRCh37/hg19 Xp22.33(chrX:2616384-2946211)x3	ARSD, ARSD-AS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684961	GRCh37/hg19 Xp22.33(chrX:2468908-3011375)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684959	GRCh37/hg19 Xp22.33(chrX:1818053-3699423)x3	ARSD, ARSD-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684958	GRCh37/hg19 Xp22.33-22.32(chrX:1734398-4958582)x3	ARSD, ARSD-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2659866	NM_001011719.2(ARSH):c.1610C>T (p.Pro537Leu)	ARSH (P537L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659865	NM_001011719.2(ARSH):c.1164G>A (p.Leu388=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605710	NM_001011719.2(ARSH):c.1024G>A (p.Gly342Arg)	ARSH (G342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589448	NM_001011719.2(ARSH):c.205A>G (p.Ile69Val)	ARSH (I69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522869	NM_001011719.2(ARSH):c.1552C>T (p.Arg518Cys)	ARSH (R518C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518883	NM_001011719.2(ARSH):c.1349T>C (p.Val450Ala)	ARSH (V450A)	Single nucleotide variant (missense variant)	not specified	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 2499158	GRCh37/hg19 Xp22.33-22.31(chrX:200855-6069814)x1	ARSD-AS1, XG +8 more	Copy number loss	not provided	GPathogenic
Select item 2398871	NM_001011719.2(ARSH):c.385T>C (p.Cys129Arg)	ARSH (C129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390995	NM_001011719.2(ARSH):c.1348G>A (p.Val450Met)	ARSH (V450M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382474	NM_001011719.2(ARSH):c.40G>A (p.Ala14Thr)	ARSH (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374589	NM_001011719.2(ARSH):c.1408T>C (p.Cys470Arg)	ARSH (C470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362277	NM_001011719.2(ARSH):c.196C>T (p.Arg66Trp)	ARSH (R66W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2310525	NM_001011719.2(ARSH):c.1289A>T (p.Tyr430Phe)	ARSH (Y430F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287050	NM_001011719.2(ARSH):c.1270T>C (p.Phe424Leu)	ARSH (F424L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272183	NM_001011719.2(ARSH):c.1685C>A (p.Pro562His)	ARSH (P562H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263046	NM_001011719.2(ARSH):c.239A>G (p.Asn80Ser)	ARSH (N80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238833	NM_001011719.2(ARSH):c.1102G>A (p.Val368Ile)	ARSH (V368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237189	NM_001011719.2(ARSH):c.329C>A (p.Thr110Lys)	ARSH (T110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231228	NM_001011719.2(ARSH):c.319G>A (p.Gly107Ser)	ARSH (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229112	NM_001011719.2(ARSH):c.373C>T (p.Arg125Trp)	ARSH (R125W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223249	NM_001011719.2(ARSH):c.325C>T (p.Arg109Cys)	ARSH (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1808630	GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1	ANOS1, ARSD +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807900	GRCh37/hg19 Xp22.33-22.31(chrX:1626596-7832236)x3	ARSD, ARSD-AS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807716	GRCh37/hg19 Xp22.33(chrX:2703823-3354304)x1	ARSD, ARSD-AS1 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807636	GRCh37/hg19 Xp22.33(chrX:2370150-3027737)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1708269	GRCh37/hg19 Xp22.33(chrX:2696691-3666623)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	Klinefelter syndrome	GPathogenic
Select item 1707443	GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)x1	ANOS1, ARSD +24 more	Copy number loss	See cases	GPathogenic
Select item 1706494	GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1	GYG2, ANOS1 +23 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 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 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 1526750	GRCh37/hg19 Xp22.33(chrX:2763106-3583305)	ARSD, ARSD-AS1 +6 more	Copy number gain	not specified	GUncertain significance
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 1340700	GRCh37/hg19 Xp22.33-22.32(chrX:1-4567282)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1340276	GRCh37/hg19 Xp22.33(chrX:2428085-3127231)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340025	GRCh37/hg19 Xp22.33(chrX:2571752-3195839)x2	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1339979	GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449837)x0	ARSD, ARSD-AS1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1328274	NM_001011719.2(ARSH):c.1177G>A (p.Gly393Arg)	ARSH (G393R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 988943	GRCh37/hg19 Xp22.33-22.32(chrX:60000-4857212)x1	XG, ARSD +7 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979653	GRCh37/hg19 Xp22.33(chrX:2571744-3605934)x2	ARSL, GYG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979651	GRCh37/hg19 Xp22.33(chrX:2428084-3118627)x2	ARSD-AS1, XG +5 more	Copy number gain	not provided	GUncertain significance
Select item 979648	GRCh37/hg19 Xp22.33(chrX:2422650-2965166)x3	XG, ARSD +5 more	Copy number gain	not provided	GUncertain significance
Select item 974792	GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2	ARSD, ARSD-AS1 +3 more	Copy number gain	Hypoplastic left heart syndrome	GUncertain significance
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816485	GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0	ARSH, ARSD +8 more	Copy number loss	See cases	GPathogenic
Select item 816281	GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	FAM9B, AMELX +82 more	Copy number gain	not provided	GPathogenic
Select item 816278	GRCh37/hg19 Xp22.33(chrX:827260-3057917)x3	ARSD, GYG2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 816269	GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	TCEANC, CLTRN +90 more	Copy number loss	not provided	GPathogenic
Select item 816249	GRCh37/hg19 Xp22.33-22.32(chrX:168546-5723788)x0	PRKX, ARSD +7 more	Copy number loss	not provided	GPathogenic
Select item 816248	GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1	VCX, VCX2 +16 more	Copy number loss	not provided	GPathogenic
Select item 816247	GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449753)x1	ARSF, NLGN4X +8 more	Copy number loss	not provided	GPathogenic
Select item 816245	GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1	GRPR, STS +66 more	Copy number loss	not provided	GPathogenic
Select item 816242	GRCh37/hg19 Xp22.33(chrX:168546-3265521)x0	XG, ARSH +6 more	Copy number loss	not provided	GPathogenic
Select item 816240	GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2	VCX3A, ARSH +12 more	Copy number gain	not provided	GPathogenic
Select item 783900	NM_001011719.2(ARSH):c.1224G>A (p.Met408Ile)	ARSH (M408I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781533	NM_001011719.2(ARSH):c.110G>A (p.Arg37His)	ARSH (R37H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713928	NM_001011719.2(ARSH):c.430C>A (p.Pro144Thr)	ARSH (P144T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688883	GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 688200	GRCh37/hg19 Xp22.33(chrX:2468907-3011375)x3	ARSD, ARSD-AS1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687367	GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1	ARSD, ARSD-AS1 +15 more	Copy number loss	not provided	GPathogenic
Select item 686941	GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 3