29775[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57423	GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)x3	C1QTNF6, CARD10 +51 more	Copy number gain	See cases	GUncertain significance
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 3061323	NM_014550.4(CARD10):c.3095C>A (p.Ala1032Asp)	CARD10 (A1032D)	Single nucleotide variant (missense variant)	CARD10-related disorder	GUncertain significance
Select item 3040877	NM_014550.4(CARD10):c.3077G>A (p.Cys1026Tyr)	CARD10 (C1026Y)	Single nucleotide variant (missense variant)	CARD10-related disorder	GBenign
Select item 2283811	NM_014550.4(CARD10):c.3072A>C (p.Arg1024Ser)	CARD10 (R1024S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137284	NM_014550.4(CARD10):c.3059G>A (p.Cys1020Tyr)	CARD10 (C1020Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040008	NM_014550.4(CARD10):c.3055G>C (p.Glu1019Gln)	CARD10 (E1019Q)	Single nucleotide variant (missense variant)	CARD10-related disorder	GUncertain significance
Select item 2412442	NM_014550.4(CARD10):c.3019C>T (p.Arg1007Cys)	CARD10 (R1007C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263290	NM_014550.4(CARD10):c.3013C>T (p.Arg1005Cys)	CARD10 (R1005C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653115	NM_014550.4(CARD10):c.3012G>C (p.Val1004=)	CARD10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716133	NM_014550.4(CARD10):c.2820C>T (p.Ile940=)	CARD10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2356814	NM_014550.4(CARD10):c.2808G>C (p.Glu936Asp)	CARD10 (E936D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462771	NM_014550.4(CARD10):c.2788C>T (p.Arg930Trp)	CARD10 (R930W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137282	NM_014550.4(CARD10):c.2764C>A (p.Leu922Met)	CARD10 (L922M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263285	NM_014550.4(CARD10):c.2705C>T (p.Pro902Leu)	CARD10 (P902L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137281	NM_014550.4(CARD10):c.2653G>A (p.Glu885Lys)	CARD10 (E885K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263288	NM_014550.4(CARD10):c.2572C>T (p.Arg858Trp)	CARD10 (R858W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263286	NM_014550.4(CARD10):c.2567C>T (p.Ala856Val)	CARD10 (A856V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044055	NM_014550.4(CARD10):c.2517G>A (p.Pro839=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GBenign
Select item 2482156	NM_014550.4(CARD10):c.2494A>G (p.Arg832Gly)	CARD10 (R832G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224916	NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp)	CARD10 (R829W)	Single nucleotide variant (missense variant)	Primary open angle glaucoma	Grisk factor
Select item 3049329	NM_014550.4(CARD10):c.2477-7G>C	CARD10	Single nucleotide variant (intron variant)	CARD10-related disorder	GLikely benign
Select item 2311067	NM_014550.4(CARD10):c.2351G>C (p.Arg784Pro)	CARD10 (R784P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265149	NM_014550.4(CARD10):c.2351G>A (p.Arg784Gln)	CARD10 (R784Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273313	NM_014550.4(CARD10):c.2341C>T (p.Pro781Ser)	CARD10 (P781S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263289	NM_014550.4(CARD10):c.2294A>C (p.Asn765Thr)	CARD10 (N765T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275118	NM_014550.4(CARD10):c.2282G>T (p.Gly761Val)	CARD10 (G761V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035173	NM_014550.4(CARD10):c.2229G>A (p.Gln743=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GLikely benign
Select item 3043839	NM_014550.4(CARD10):c.2113G>A (p.Glu705Lys)	CARD10 (E705K)	Single nucleotide variant (missense variant)	CARD10-related disorder	GBenign
Select item 3050777	NM_014550.4(CARD10):c.2112C>T (p.Ala704=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GLikely benign
Select item 2407236	NM_014550.4(CARD10):c.2056A>C (p.Lys686Gln)	CARD10 (K686Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297734	NM_014550.4(CARD10):c.1993G>A (p.Glu665Lys)	CARD10 (E665K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269093	NM_014550.4(CARD10):c.1978G>A (p.Ala660Thr)	CARD10 (A660T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263292	NM_014550.4(CARD10):c.1960G>A (p.Ala654Thr)	CARD10 (A654T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614450	NM_014550.4(CARD10):c.1913C>T (p.Ser638Phe)	CARD10 (S638F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137278	NM_014550.4(CARD10):c.1892C>T (p.Ala631Val)	CARD10 (A631V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529375	NM_014550.4(CARD10):c.1868T>G (p.Phe623Cys)	CARD10 (F623C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045174	NM_014550.4(CARD10):c.1866G>A (p.Ser622=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GLikely benign
Select item 2285733	NM_014550.4(CARD10):c.1802G>A (p.Arg601Gln)	CARD10 (R601Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365483	NM_014550.4(CARD10):c.1801C>T (p.Arg601Trp)	CARD10 (R601W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495569	NM_014550.4(CARD10):c.1734G>T (p.Leu578Phe)	CARD10 (L578F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327651	NM_014550.4(CARD10):c.1657A>G (p.Ile553Val)	CARD10 (I553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263294	NM_014550.4(CARD10):c.1628C>A (p.Pro543His)	CARD10 (P543H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263291	NM_014550.4(CARD10):c.1585G>A (p.Gly529Ser)	CARD10 (G529S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055514	NM_014550.4(CARD10):c.1584C>T (p.Ala528=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GBenign
Select item 3137277	NM_014550.4(CARD10):c.1573C>G (p.Pro525Ala)	CARD10 (P525A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055394	NM_014550.4(CARD10):c.1551T>C (p.Asn517=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GBenign
Select item 711084	NM_014550.4(CARD10):c.1541A>G (p.Lys514Arg)	CARD10 (K514R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3137276	NM_014550.4(CARD10):c.1498G>A (p.Gly500Arg)	CARD10 (G500R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137275	NM_014550.4(CARD10):c.1483G>A (p.Ala495Thr)	CARD10 (A495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050006	NM_014550.4(CARD10):c.1440C>T (p.Ser480=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GBenign
Select item 3137274	NM_014550.4(CARD10):c.1426A>T (p.Thr476Ser)	CARD10 (T476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056227	NM_014550.4(CARD10):c.1398C>T (p.Ser466=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GBenign
Select item 3060805	NM_014550.4(CARD10):c.1389T>C (p.Cys463=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GBenign
Select item 2344561	NM_014550.4(CARD10):c.1388G>A (p.Cys463Tyr)	CARD10 (C463Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053147	NM_014550.4(CARD10):c.1383+7G>A	CARD10	Single nucleotide variant (intron variant)	CARD10-related disorder	GLikely benign
Select item 3051693	NM_014550.4(CARD10):c.1383+6C>T	CARD10	Single nucleotide variant (intron variant)	CARD10-related disorder	GLikely benign
Select item 2280900	NM_014550.4(CARD10):c.1367G>T (p.Gly456Val)	CARD10 (G456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057027	NM_014550.4(CARD10):c.1347T>G (p.Val449=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GBenign
Select item 741007	NM_014550.4(CARD10):c.1308G>A (p.Thr436=)	CARD10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2664195	NM_014550.4(CARD10):c.1307C>T (p.Thr436Met)	CARD10 (T436M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3263287	NM_014550.4(CARD10):c.1296G>C (p.Glu432Asp)	CARD10 (E432D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589519	NM_014550.4(CARD10):c.1271G>A (p.Arg424Gln)	CARD10 (R424Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326845	NM_014550.4(CARD10):c.1258C>T (p.Arg420Cys)	CARD10 (R420C)	Single nucleotide variant (missense variant)	Immunodeficiency 89 and autoimmunity	GPathogenic
Select item 224915	NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp)	CARD10 (R404W)	Single nucleotide variant (missense variant)	Primary open angle glaucoma	Grisk factor
Select item 790775	NM_014550.4(CARD10):c.1149T>C (p.Thr383=)	CARD10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777704	NM_014550.4(CARD10):c.1144G>A (p.Ala382Thr)	CARD10 (A382T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2322575	NM_014550.4(CARD10):c.1141A>G (p.Met381Val)	CARD10 (M381V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599232	NM_014550.4(CARD10):c.1106C>T (p.Thr369Met)	CARD10 (T369M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478567	NM_014550.4(CARD10):c.1103G>A (p.Arg368His)	CARD10 (R368H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037584	NM_014550.4(CARD10):c.1065+6G>T	CARD10	Single nucleotide variant (intron variant)	CARD10-related disorder	GBenign
Select item 2282258	NM_014550.4(CARD10):c.1055T>G (p.Leu352Arg)	CARD10 (L352R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137273	NM_014550.4(CARD10):c.1033G>A (p.Glu345Lys)	CARD10 (E345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224914	NM_014550.4(CARD10):c.1024G>A (p.Val342Met)	CARD10 (V342M)	Single nucleotide variant (missense variant)	Primary open angle glaucoma	Grisk factor
Select item 224913	NM_014550.4(CARD10):c.983C>T (p.Ala328Val)	CARD10 (A328V)	Single nucleotide variant (missense variant)	Primary open angle glaucoma	Grisk factor
Select item 2653116	NM_014550.4(CARD10):c.981G>A (p.Glu327=)	CARD10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3137292	NM_014550.4(CARD10):c.932C>T (p.Pro311Leu)	CARD10 (P311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137291	NM_014550.4(CARD10):c.923C>T (p.Pro308Leu)	CARD10 (P308L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137290	NM_014550.4(CARD10):c.919C>T (p.Arg307Trp)	CARD10 (R307W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056222	NM_014550.4(CARD10):c.910-6C>T	CARD10	Single nucleotide variant (intron variant)	CARD10-related disorder	GBenign
Select item 3060680	NM_014550.4(CARD10):c.866G>A (p.Arg289Gln)	CARD10 (R289Q)	Single nucleotide variant (missense variant)	CARD10-related disorder	GBenign
Select item 3067997	NM_014550.4(CARD10):c.863A>C (p.Gln288Pro)	CARD10 (Q288P)	Single nucleotide variant (missense variant)	Immunodeficiency 89 and autoimmunity	GUncertain significance
Select item 2539498	NM_014550.4(CARD10):c.854C>G (p.Ala285Gly)	CARD10 (A285G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263284	NM_014550.4(CARD10):c.850C>T (p.Arg284Cys)	CARD10 (R284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137289	NM_014550.4(CARD10):c.830T>C (p.Val277Ala)	CARD10 (V277A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3046876	NM_014550.4(CARD10):c.828T>C (p.Asn276=)	CARD10	Single nucleotide variant (synonymous variant)	CARD10-related disorder	GLikely benign
Select item 3056047	NM_014550.4(CARD10):c.790AAGGAG[6] (p.Glu273_Pro274insLysGlu)	CARD10	Microsatellite	CARD10-related disorder	GBenign
Select item 3060276	NM_014550.4(CARD10):c.790AAGGAG[4] (p.264KE[4])	CARD10	Microsatellite	CARD10-related disorder	GBenign
Select item 3137288	NM_014550.4(CARD10):c.770C>T (p.Pro257Leu)	CARD10 (P257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457152	NM_014550.4(CARD10):c.728G>A (p.Arg243Gln)	CARD10 (R243Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224912	NM_014550.4(CARD10):c.635G>A (p.Arg212His)	CARD10 (R212H)	Single nucleotide variant (missense variant)	Primary open angle glaucoma	Grisk factor
Select item 2479540	NM_014550.4(CARD10):c.628G>T (p.Ala210Ser)	CARD10 (A210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603487	NM_014550.4(CARD10):c.565C>T (p.Arg189Trp)	CARD10 (R189W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137285	NM_014550.4(CARD10):c.551G>A (p.Arg184His)	CARD10 (R184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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