ClinVar for Gene (Select 7504) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062483	GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641)	CFAP47, CYBB +17 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 3032247	NM_021083.4(XK):c.274C>T (p.Gln92Ter)	XK (Q92*)	Single nucleotide variant (nonsense)	XK-related condition	GLikely pathogenic
Select item 3012050	NM_021083.4(XK):c.297T>A (p.Pro99=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985594	NM_021083.4(XK):c.303C>T (p.Val101=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985052	NM_021083.4(XK):c.705C>A (p.Thr235=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981232	NM_021083.4(XK):c.246-8G>C	XK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918663	NM_021083.4(XK):c.420G>A (p.Ser140=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2892436	NM_021083.4(XK):c.765C>G (p.Leu255=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2892420	NM_021083.4(XK):c.405G>A (p.Ala135=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891050	NM_021083.4(XK):c.1308G>A (p.Leu436=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2870079	NM_021083.4(XK):c.1190G>A (p.Trp397Ter)	XK (W397*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2789697	NM_021083.4(XK):c.613C>T (p.Pro205Ser)	XK (P205S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695229	NM_021083.4(XK):c.243C>G (p.Phe81Leu)	XK (F81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	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 2660286	NM_021083.4(XK):c.1007A>G (p.Tyr336Cys)	XK (Y336C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507382	NM_021083.4(XK):c.856_860del (p.Leu286fs)	XK (L286fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2438624	NM_021083.4(XK):c.1220C>T (p.Pro407Leu)	XK (P407L)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438623	NM_021083.4(XK):c.404C>T (p.Ala135Val)	XK (A135V)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438622	NM_021083.4(XK):c.794A>G (p.Glu265Gly)	XK (E265G)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438621	NM_021083.4(XK):c.335A>G (p.Asn112Ser)	XK (N112S)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438620	NM_021083.4(XK):c.200C>T (p.Pro67Leu)	XK (P67L)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438619	NM_021083.4(XK):c.85C>G (p.Arg29Gly)	XK (R29G)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438618	NM_021083.4(XK):c.100C>G (p.Arg34Gly)	XK (R34G)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2429766	NM_021083.4(XK):c.771G>A (p.Trp257Ter)	XK (W257*)	Single nucleotide variant (nonsense)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 2423023	NC_000023.10:g.(?_37545215)_(37664441_?)del	CYBB, XK	Deletion	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 2423022	NC_000023.10:g.(?_37545215)_(37670170_?)del	CYBB, XK	Deletion	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 2285249	NM_021083.4(XK):c.800T>C (p.Ile267Thr)	XK (I267T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277656	NM_021083.4(XK):c.353T>C (p.Ile118Thr)	XK (I118T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211667	NM_021083.4(XK):c.1099C>T (p.Leu367Phe)	XK (L367F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178930	NM_021083.4(XK):c.228A>G (p.Gln76=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178446	NM_021083.4(XK):c.1243T>G (p.Ser415Ala)	XK (S415A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2159928	NM_021083.4(XK):c.71T>A (p.Leu24Gln)	XK (L24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139092	NM_021083.4(XK):c.1019C>A (p.Thr340Asn)	XK (T340N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2118538	NM_021083.4(XK):c.723A>G (p.Ile241Met)	XK (I241M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106266	NM_021083.4(XK):c.657T>C (p.Ile219=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098998	NM_021083.4(XK):c.1215T>C (p.Cys405=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097593	NM_021083.4(XK):c.171C>G (p.Phe57Leu)	XK (F57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096700	NM_021083.4(XK):c.108G>T (p.Trp36Cys)	XK (W36C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091742	NM_021083.4(XK):c.204C>T (p.Leu68=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037585	NM_021083.4(XK):c.1332T>C (p.Ala444=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1954470	NM_021083.4(XK):c.205G>T (p.Val69Leu)	XK (V69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941252	NM_021083.4(XK):c.417G>A (p.Ala139=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1933407	NM_021083.4(XK):c.732C>T (p.Asn244=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808178	GRCh37/hg19 Xp21.1-11.4(chrX:37472901-38023139)x2	CYBB, DYNLT3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1715048	NM_021083.4(XK):c.176A>G (p.His59Arg)	XK (H59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 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 1703522	GRCh37/hg19 Xp21.1-11.4(chrX:37550041-37645092)	XK, CYBB	Copy number loss	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 1573329	NM_021083.4(XK):c.57G>C (p.Thr19=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1363981	NM_021083.4(XK):c.731A>G (p.Asn244Ser)	XK (N244S)	Single nucleotide variant (missense variant)	not provided	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 1340796	GRCh37/hg19 Xp21.1-11.4(chrX:37434962-37882707)x3	CYBB, DYNLT3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1339878	GRCh37/hg19 Xp21.1(chrX:37526649-37554684)x3	LANCL3, XK	Copy number gain	not provided	Gnot provided
Select item 1303649	NM_021083.4(XK):c.343T>C (p.Ser115Pro)	XK (S115P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300238	NM_021083.4(XK):c.979G>A (p.Glu327Lys)	XK (E327K)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	Gnot provided
Select item 1300237	NM_021083.4(XK):c.664C>G (p.Arg222Gly)	XK (R222G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300236	NM_021083.4(XK):c.508+5G>A	XK	Single nucleotide variant (intron variant)	McLeod neuroacanthocytosis syndrome	Gnot provided
Select item 1299565	NM_021083.4(XK):c.664C>T (p.Arg222Ter)	XK (R222*)	Single nucleotide variant (nonsense)	McLeod neuroacanthocytosis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1283822	NM_021083.4(XK):c.*89A>T	XK	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1268842	NC_000023.11:g.37685675C>T	XK	Single nucleotide variant	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1076887	NC_000023.10:g.(?_37545215)_(38280335_?)del	XK, CYBB +6 more	Deletion	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 1057784	NM_021083.4(XK):c.554T>C (p.Leu185Ser)	XK (L185S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1055977	NC_000023.10:g.(?_37545209)_(38186626_?)dup	SYTL5, XK +5 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
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 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979791	GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3	OTC, RPGR +8 more	Copy number gain	not provided	GUncertain significance
Select item 979790	GRCh37/hg19 Xp21.1(chrX:37221175-37549799)x3	PRRG1, XK +1 more	Copy number gain	not provided	GUncertain significance
Select item 975141	Single allele	CFAP47, CXorf22 +14 more	Deletion	Retinitis pigmentosa 3	GPathogenic
Select item 970168	NM_021083.4(XK):c.412C>T (p.Arg138Trp)	XK (R138W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 833473	NC_000023.10:g.(?_30326313)_(41000684_?)del	ATP6AP2, BCOR +30 more	Deletion	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 816341	GRCh37/hg19 Xp21.1-11.4(chrX:37472900-37879310)x2	H2AP, DYNLT3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 816337	GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	ATP6AP2, BCOR +32 more	Copy number loss	not provided	GPathogenic
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 799158	NM_021083.4(XK):c.617T>C (p.Leu206Pro)	XK (L206P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 750463	NM_021083.4(XK):c.765C>T (p.Leu255=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746966	NM_021083.4(XK):c.450C>G (p.Pro150=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744635	NM_021083.4(XK):c.417G>T (p.Ala139=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742021	NM_021083.4(XK):c.492C>T (p.Asp164=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 695682	NM_021083.4(XK):c.1108T>G (p.Tyr370Asp)	XK (Y370D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 695501	NM_021083.4(XK):c.1221G>A (p.Pro407=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 695327	NM_021083.4(XK):c.150C>T (p.Leu50=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688477	GRCh37/hg19 Xp21.1(chrX:37448237-37568108)x3	LANCL3, XK	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 685577	GRCh37/hg19 Xp21.1(chrX:37448237-37563710)x2	LANCL3, XK	Copy number gain	not provided	GUncertain significance
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

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