CIMAP1B[gene] - 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 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 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	ACR, ADM2 +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	PRR5-ARHGAP8, RABL2B +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	ACR, ADM2 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	FAM118A, FBLN1 +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	ACR, ADM2 +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	CHKB-DT, IL17REL +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	CERK, CHKB +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	CERK, CHKB +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	ACR, ADM2 +281 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976869	NC_000022.11:g.46489644_50806138del	ACR, ADM2 +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	ACR, ADM2 +228 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976863	NC_000022.11:g.47513236_50806138del	LOC130067876, LOC130067889 +226 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976866	NC_000022.11:g.47705262_50739836del	ACR, ADM2 +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	ACR, ADM2 +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	ALG12, ARSA +206 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976867	NC_000022.11:g.48500344_50780581del	ACR, ADM2 +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	ACR, ADM2 +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 147719	GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3	ACR, ADM2 +84 more	Copy number gain	See cases	GBenign
Select item 160981	GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3	ADM2, CHKB +52 more	Copy number gain	See cases	GUncertain significance
Select item 32818	GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3	ADM2, CHKB +52 more	Copy number gain	See cases	GUncertain significance
Select item 154200	GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1	ACR, ADM2 +55 more	Copy number loss	See cases	GPathogenic
Select item 3235473	NM_001014440.4(CIMAP1B):c.733G>A (p.Ala245Thr)	CIMAP1B, LOC130067866 (A177T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267947	NM_001014440.4(CIMAP1B):c.683A>G (p.His228Arg)	CIMAP1B, LOC130067866 (H236R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235463	NM_001014440.4(CIMAP1B):c.650A>C (p.Lys217Thr)	CIMAP1B, LOC130067867 (E193D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235460	NM_001014440.4(CIMAP1B):c.602A>G (p.Gln201Arg)	CIMAP1B, LOC130067867 (Q133R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271139	NM_001014440.4(CIMAP1B):c.526G>C (p.Glu176Gln)	CIMAP1B (E108Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235450	NM_001014440.4(CIMAP1B):c.518G>C (p.Ser173Thr)	CIMAP1B (Q149H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336420	NM_001014440.4(CIMAP1B):c.428C>T (p.Ala143Val)	CIMAP1B (A143V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235440	NM_001014440.4(CIMAP1B):c.401C>T (p.Ala134Val)	CIMAP1B (A134V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235435	NM_001014440.4(CIMAP1B):c.401C>A (p.Ala134Glu)	CIMAP1B (A134E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235432	NM_001014440.4(CIMAP1B):c.362C>T (p.Pro121Leu)	CIMAP1B (P121L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235429	NM_001014440.4(CIMAP1B):c.115G>A (p.Ala39Thr)	CIMAP1B (A39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319931	NM_001014440.4(CIMAP1B):c.98C>A (p.Pro33Gln)	CIMAP1B, LOC130067869 (P33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239945	NM_001014440.4(CIMAP1B):c.74G>T (p.Gly25Val)	CIMAP1B, LOC130067869 (G25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235470	NM_001014440.4(CIMAP1B):c.68A>G (p.Tyr23Cys)	CIMAP1B, LOC130067869 (Y23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210323	NM_001014440.4(CIMAP1B):c.10G>A (p.Asp4Asn)	CIMAP1B, LOC130067870 (D4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392209	GRCh37/hg19 22q13.33(chr22:50893449-51197838)x3	ACR, ADM2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 3392208	GRCh37/hg19 22q13.33(chr22:50489358-51121377)x3	ADM2, ARSA +26 more	Copy number gain	not provided	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 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	PIM3, PLXNB2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	PPP6R2, SELENOO +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 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
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

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