MAPK12[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 186

<< First< Prev

Page of 2

	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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	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 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 57673	GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	ACR, ADM2 +343 more	Copy number loss	See cases	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 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 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 155420	GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1	LOC130067809, LOC130067810 +288 more	Copy number loss	See cases	GPathogenic
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 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 152137	GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	ACR, ADM2 +260 more	Copy number loss	See cases	GPathogenic
Select item 146310	GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1	LOC130067846, LOC130067847 +240 more	Copy number loss	See cases	GPathogenic
Select item 57674	GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1	LOC126863173, LOC126863174 +235 more	Copy number loss	See cases	GPathogenic
Select item 57675	GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1	ACR, ADM2 +230 more	Copy number loss	See cases	GPathogenic
Select item 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 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 976866	NC_000022.11:g.47705262_50739836del	LOC130067774, LOC130067775 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57193	GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1	ACR, ADM2 +221 more	Copy number loss	See cases	GPathogenic
Select item 976861	NC_000022.11:g.47823120_50759410del	LOC130067781, LOC130067782 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 154522	GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1	ACR, ADM2 +210 more	Copy number loss	See cases	GPathogenic
Select item 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 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 148302	GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1	ACR, ADM2 +207 more	Copy number loss	See cases	GPathogenic
Select item 147807	GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 57703	GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 144225	GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1	ACR, ADM2 +186 more	Copy number loss	See cases	GPathogenic
Select item 144377	GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 146391	GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 155641	GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1	LOC121853048, LOC125446259 +184 more	Copy number loss	See cases	GPathogenic
Select item 150859	GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	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 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 146870	GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3	ADM2, ARSA +123 more	Copy number gain	See cases	GUncertain significance
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 3293192	NM_002969.6(MAPK12):c.1094C>T (p.Thr365Met)	MAPK12 (T355M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293195	NM_002969.6(MAPK12):c.1040A>G (p.Glu347Gly)	MAPK12 (E347G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339167	NM_002969.6(MAPK12):c.1031C>G (p.Thr344Ser)	MAPK12 (T344S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604362	NM_002969.6(MAPK12):c.997G>A (p.Val333Ile)	MAPK12 (V323I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123230	NM_002969.6(MAPK12):c.980A>C (p.Asp327Ala)	MAPK12 (D317A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601052	NM_002969.6(MAPK12):c.977A>G (p.Tyr326Cys)	MAPK12 (Y316C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552065	NM_002969.6(MAPK12):c.955G>T (p.Asp319Tyr)	MAPK12 (D319Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323917	NM_002969.6(MAPK12):c.953A>G (p.Glu318Gly)	MAPK12 (E308G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217759	NM_002969.6(MAPK12):c.943C>T (p.His315Tyr)	MAPK12 (H305Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301251	NM_002969.6(MAPK12):c.934G>A (p.Glu312Lys)	MAPK12 (E312K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599369	NM_002969.6(MAPK12):c.926C>T (p.Pro309Leu)	MAPK12 (P299L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456351	NM_002969.6(MAPK12):c.896G>A (p.Arg299Gln)	MAPK12 (R289Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361577	NM_002969.6(MAPK12):c.782A>G (p.Tyr261Cys)	MAPK12 (Y261C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123229	NM_002969.6(MAPK12):c.766G>A (p.Asp256Asn)	MAPK12 (D246N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275654	NM_002969.6(MAPK12):c.746T>C (p.Phe249Ser)	MAPK12 (F239S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366528	NM_002969.6(MAPK12):c.611C>T (p.Thr204Met)	MAPK12 (T194M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123228	NM_002969.6(MAPK12):c.605G>A (p.Arg202His)	MAPK12 (R192H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123227	NM_002969.6(MAPK12):c.575G>A (p.Arg192Gln)	MAPK12 (R182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123226	NM_002969.6(MAPK12):c.566G>A (p.Arg189Gln)	MAPK12 (R189Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515443	NM_002969.6(MAPK12):c.565C>T (p.Arg189Trp)	MAPK12 (R179W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293194	NM_002969.6(MAPK12):c.524C>T (p.Ala175Val)	MAPK12 (A175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293191	NM_002969.6(MAPK12):c.511G>A (p.Asp171Asn)	MAPK12 (D171N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123225	NM_002969.6(MAPK12):c.469G>A (p.Gly157Ser)	MAPK12 (G147S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293186	NM_002969.6(MAPK12):c.418G>A (p.Gly140Arg)	MAPK12 (G140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123224	NM_002969.6(MAPK12):c.385C>T (p.Arg129Trp)	MAPK12 (R129W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293189	NM_002969.6(MAPK12):c.312C>A (p.Asp104Glu)	MAPK12 (D104E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123223	NM_002969.6(MAPK12):c.245G>A (p.Arg82His)	MAPK12 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293187	NM_002969.6(MAPK12):c.222G>T (p.Glu74Asp)	MAPK12 (E74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461731	NM_002969.6(MAPK12):c.206A>T (p.Lys69Met)	MAPK12 (K69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720967	NM_002969.6(MAPK12):c.182C>T (p.Pro61Leu)	MAPK12 (P61L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2229204	NM_002969.6(MAPK12):c.179G>C (p.Arg60Pro)	MAPK12 (R60P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280177	NM_002969.6(MAPK12):c.149G>A (p.Gly50Asp)	LOC130067831, MAPK12 (G50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481202	NM_002969.6(MAPK12):c.97G>A (p.Val33Met)	LOC130067831, MAPK12 (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355823	NM_002969.6(MAPK12):c.95C>T (p.Pro32Leu)	LOC130067831, MAPK12 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293188	NM_002969.6(MAPK12):c.76G>A (p.Val26Met)	LOC130067831, MAPK12 (V26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2