ClinVar for Gene (Select 5600) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 163

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293185	NM_002751.7(MAPK11):c.910G>T (p.Ala304Ser)	MAPK11 (A304S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293184	NM_002751.7(MAPK11):c.306G>A (p.Val102=)	MAPK11	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3123222	NM_002751.7(MAPK11):c.671C>G (p.Pro224Arg)	MAPK11 (P224R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123221	NM_002751.7(MAPK11):c.541G>A (p.Gly181Ser)	MAPK11 (G181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123220	NM_002751.7(MAPK11):c.481G>A (p.Asp161Asn)	MAPK11 (D161N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123219	NM_002751.7(MAPK11):c.1060C>G (p.Pro354Ala)	MAPK11 (P354A)	Single nucleotide variant (missense variant +1 more)	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 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 2684942	GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3	ADM2, ARSA +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684940	GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3	ALG12, BRD1 +15 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 2653373	NM_002751.7(MAPK11):c.882C>T (p.Asp294=)	MAPK11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2534863	NM_002751.7(MAPK11):c.133C>T (p.Arg45Trp)	MAPK11 (R45W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529026	NM_002751.7(MAPK11):c.995G>A (p.Arg332His)	MAPK11 (R332H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527685	NM_002751.7(MAPK11):c.975G>C (p.Glu325Asp)	MAPK11 (E325D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494270	NM_002751.7(MAPK11):c.755C>T (p.Ser252Leu)	MAPK11 (S252L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425301	NC_000022.10:g.(?_50297486)_(51066207_?)del	ADM2, ALG12 +29 more	Deletion	not provided	GPathogenic
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	ADM2, ALG12 +31 more	Deletion	not provided	GPathogenic
Select item 2400987	NM_002751.7(MAPK11):c.940C>T (p.Pro314Ser)	MAPK11 (P314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337068	NM_002751.7(MAPK11):c.1008G>C (p.Glu336Asp)	MAPK11 (E336D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292660	NM_002751.7(MAPK11):c.1048C>T (p.Pro350Ser)	MAPK11 (P350S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251017	NM_002751.7(MAPK11):c.793A>C (p.Met265Leu)	MAPK11 (M265L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246930	NM_002751.7(MAPK11):c.637A>G (p.Met213Val)	MAPK11 (M213V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239358	NM_002751.7(MAPK11):c.229C>T (p.His77Tyr)	LOC130067834, MAPK11 (H77Y)	Single nucleotide variant (missense variant +1 more)	not specified	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 1807632	GRCh37/hg19 22q13.33(chr22:50636593-50736663)x1	HDAC10, MAPK11 +5 more	Copy number loss	not provided	GUncertain significance
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 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	GUncertain significance
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	ADM2, ALG12 +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 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 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 932299	Single allele	ATXN10, BRD1 +45 more	Copy number loss	22q13.3 interstitial deletion	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 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 711784	NM_002751.7(MAPK11):c.611-7C>T	MAPK11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689252	GRCh37/hg19 22q13.33(chr22:50651883-50859165)x3	DENND6B, HDAC10 +6 more	Copy number gain	not provided	GUncertain significance
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
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 565051	GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	ACR, ADM2 +61 more	Copy number loss	not provided	GPathogenic
Select item 565050	GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 565049	GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1	BRD1, CELSR1 +41 more	Copy number loss	not provided	GPathogenic
Select item 565048	GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1	ACR, ADM2 +38 more	Copy number loss	not provided	GPathogenic
Select item 565047	GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1	ACR, ADM2 +38 more	Copy number loss	not provided	GPathogenic
Select item 565013	GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1	ACR, ADM2 +33 more	Copy number loss	not provided	GPathogenic
Select item 565012	GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1	ACR, ADM2 +33 more	Copy number loss	not provided	GPathogenic
Select item 565004	GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1	SELENOO, MIOX +24 more	Copy number loss	not provided	GPathogenic
Select item 443889	GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1	ACR, ADM2 +44 more	Copy number loss	See cases	GPathogenic
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 443450	GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1	ACR, ADM2 +33 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2