ClinVar for Gene (Select 23542) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062464	GRCh37/hg19 22q13.33(chr22:50974309-51197838)x3	ACR, ARSA +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062444	GRCh37/hg19 22q13.33(chr22:51044719-51183834)x1	ACR, ARSA +2 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684943	GRCh37/hg19 22q13.33(chr22:50797048-51044946)x3	ADM2, CHKB +12 more	Copy number gain	not provided	GUncertain significance
Select item 2684942	GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3	ADM2, ARSA +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2605548	NM_012324.6(MAPK8IP2):c.467G>A (p.Gly156Glu)	MAPK8IP2 (G156E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2551571	NM_012324.6(MAPK8IP2):c.32C>T (p.Ser11Phe)	MAPK8IP2 (S11F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541095	NM_012324.6(MAPK8IP2):c.133G>T (p.Gly45Cys)	MAPK8IP2 (G45C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519022	NM_012324.6(MAPK8IP2):c.182C>G (p.Ser61Cys)	MAPK8IP2 (S61C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516725	NM_012324.6(MAPK8IP2):c.203C>T (p.Pro68Leu)	MAPK8IP2 (P68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425301	NC_000022.10:g.(?_50297486)_(51066207_?)del	CPT1B, ADM2 +29 more	Deletion	not provided	GPathogenic
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	MLC1, MOV10L1 +31 more	Deletion	not provided	GPathogenic
Select item 2393648	NM_012324.6(MAPK8IP2):c.370C>T (p.Leu124Phe)	MAPK8IP2 (L124F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387874	NM_012324.6(MAPK8IP2):c.490G>A (p.Ala164Thr)	MAPK8IP2 (A164T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386526	NM_012324.6(MAPK8IP2):c.583G>A (p.Gly195Arg)	MAPK8IP2 (G195R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377085	NM_012324.6(MAPK8IP2):c.527C>T (p.Pro176Leu)	MAPK8IP2 (P176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367945	NM_012324.6(MAPK8IP2):c.194C>T (p.Ser65Leu)	MAPK8IP2 (S65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339684	NM_012324.6(MAPK8IP2):c.2129C>T (p.Ala710Val)	MAPK8IP2 (A710V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326460	NM_012324.6(MAPK8IP2):c.641C>G (p.Pro214Arg)	MAPK8IP2 (P214R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307143	NM_012324.6(MAPK8IP2):c.607G>T (p.Gly203Cys)	MAPK8IP2 (G203C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275778	NM_012324.6(MAPK8IP2):c.209C>A (p.Pro70His)	MAPK8IP2 (P70H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268119	NM_012324.6(MAPK8IP2):c.727C>T (p.Arg243Cys)	MAPK8IP2 (R243C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261005	NM_012324.6(MAPK8IP2):c.307G>A (p.Glu103Lys)	MAPK8IP2 (E103K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250544	NM_012324.6(MAPK8IP2):c.1259C>T (p.Pro420Leu)	MAPK8IP2 (P420L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241535	NM_012324.6(MAPK8IP2):c.2147C>T (p.Thr716Ile)	MAPK8IP2 (T716I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226864	NM_012324.6(MAPK8IP2):c.679G>A (p.Gly227Ser)	MAPK8IP2 (G227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1808203	GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	CDPF1, CELSR1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807848	GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807836	GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1703551	GRCh37/hg19 22q13.33(chr22:49602454-51183869)	ACR, ADM2 +33 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1703238	Single allele	ACR, LOC130067783 +166 more	Duplication	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 1526745	GRCh37/hg19 22q13.33(chr22:49729747-51197838)	ACR, ADM2 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1441357	NC_000022.10:g.(?_50167881)_(51066207_?)dup	TRABD, TTLL8 +31 more	Duplication	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1340060	GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1328447	GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 1328103	GRCh37/hg19 22q13.33(chr22:50984491-51179298)x1	ACR, ARSA +6 more	Copy number loss	not provided	GPathogenic
Select item 1180542	GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1	ALG12, ARSA +33 more	Copy number loss	not provided	GPathogenic
Select item 1071720	NC_000022.10:g.(?_50297466)_(51066227_?)del	ADM2, ALG12 +29 more	Deletion	ALG12-congenital disorder of glycosylation	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979617	GRCh37/hg19 22q13.33(chr22:50990475-51165799)x3	SHANK3, ARSA +4 more	Copy number gain	not provided	GUncertain significance
Select item 979615	GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1	ADM2, SHANK3 +15 more	Copy number loss	not provided	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976869	NC_000022.11:g.46489644_50806138del	LOC126863185, LOC126863186 +282 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976867	NC_000022.11:g.48500344_50780581del	LOC126863183, LOC126863184 +207 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976866	NC_000022.11:g.47705262_50739836del	LOC130067774, LOC130067775 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976863	NC_000022.11:g.47513236_50806138del	ACR, ADM2 +226 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976861	NC_000022.11:g.47823120_50759410del	LOC130067781, LOC130067782 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 831358	NC_000022.10:g.(?_50964189)_(51066217_?)del	ODF3B, ARSA +7 more	Deletion	not provided	GPathogenic
Select item 816571	GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 816570	GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3	ADM2, ALG12 +33 more	Copy number gain	not provided	GPathogenic
Select item 816569	GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1	ZBED4, BRD1 +34 more	Copy number loss	not provided	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816239	GRCh37/hg19 22q13.33(chr22:50966042-51090760)x1	KLHDC7B, SYCE3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 816238	GRCh37/hg19 22q13.33(chr22:50893448-51060012)x3	LMF2, MIOX +11 more	Copy number gain	not provided	GUncertain significance
Select item 816237	GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3	PPP6R2, SBF1 +33 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 780679	NM_012324.6(MAPK8IP2):c.1158G>C (p.Pro386=)	MAPK8IP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688513	GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3	ACR, ADM2 +47 more	Copy number gain	not provided	GPathogenic
Select item 685951	GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3	ACR, ADM2 +34 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 626295	Single allele	ADM2, ALG12 +37 more	Deletion	not provided	GLikely pathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 625663	GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	ACR, ADM2 +34 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic

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