1890[geneid] - 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	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	LOC130067673, LOC130067674 +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	SERHL2, SHANK3 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC130067881, LOC130067882 +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	LOC130067875, LOC130067876 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC132090656, LOC132090657 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	LOC130067636, LOC130067637 +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	ACR, ADM2 +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	LOC126863178, LOC126863179 +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	SBF1, SCO2 +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	LOC130067877, LOC130067878 +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	ACR, ADM2 +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	MIRLET7BHG, MLC1 +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	LOC130067834, LOC130067835 +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	ACR, ADM2 +240 more	Copy number loss	See cases	GPathogenic
Select item 57674	GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1	ACR, ADM2 +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	LOC130067876, LOC130067877 +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	ACR, ADM2 +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 139088	NM_005138.3(SCO2):c.776C>T (p.Ala259Val)	NCAPH2, SCO2 +1 more (A259V)	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign/Likely benign
Select item 139086	NM_005138.3(SCO2):c.633A>C (p.Ala211=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +6 more	GBenign
Select item 139085	NM_005138.3(SCO2):c.582C>T (p.Ser194=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +5 more	GBenign/Likely benign
Select item 139084	NM_005138.3(SCO2):c.327C>T (p.His109=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +5 more	GBenign/Likely benign
Select item 342126	NM_005138.3(SCO2):c.237G>A (p.Arg79=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 139082	NM_005138.3(SCO2):c.59G>C (p.Arg20Pro)	TYMP, SCO2 +1 more (R20P)	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +6 more	GBenign
Select item 139081	NM_005138.3(SCO2):c.-18G>A	LOC130067861, SCO2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign
Select item 342130	NM_005138.3(SCO2):c.-78G>C	LOC130067861, SCO2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign
Select item 342133	NM_005138.3(SCO2):c.-135_-132dup	SCO2, TYMP	Duplication (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 137880	NM_001953.5(TYMP):c.*10G>A	SCO2, TYMP	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 3031371	NM_001953.5(TYMP):c.*6C>T	SCO2, TYMP	Single nucleotide variant (3 prime UTR variant +1 more)	TYMP-related condition	GLikely benign
Select item 137879	NM_001953.5(TYMP):c.*3C>T	TYMP, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1539433	NM_001953.5(TYMP):c.1446A>G (p.Gln482=)	SCO2, TYMP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1805268	NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)	SCO2, TYMP (Q482* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 342136	NM_001953.5(TYMP):c.1443G>A (p.Gln481=)	SCO2, TYMP	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 553052	NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)	SCO2, TYMP (Q481* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +3 more	GUncertain significance
Select item 1133777	NM_001953.5(TYMP):c.1440G>A (p.Pro480=)	TYMP, SCO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 215345	NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg)	LOC130067862, SCO2 +1 more (P480R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949655	NM_001953.5(TYMP):c.1438C>G (p.Pro480Ala)	LOC130067862, SCO2 +1 more (P485A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787324	NM_001953.5(TYMP):c.1437G>T (p.Pro479=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1617629	NM_001953.5(TYMP):c.1437G>A (p.Pro479=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 223077	NM_001953.5(TYMP):c.1431dup (p.Leu478fs)	SCO2, LOC130067862 +1 more (L478fs +1 more)	Duplication (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 1	GPathogenic
Select item 223013	NM_001953.5(TYMP):c.1432C>T (p.Leu478=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1409138	NM_001953.5(TYMP):c.1429G>A (p.Val477Ile)	TYMP, SCO2 +1 more (V477I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971508	NM_001953.5(TYMP):c.1428C>A (p.Leu476=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1964571	NM_001953.5(TYMP):c.1428C>G (p.Leu476=)	LOC130067862, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1153631	NM_001953.5(TYMP):c.1428C>T (p.Leu476=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776479	NM_001953.5(TYMP):c.1425G>A (p.Glu475=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1975288	NM_001953.5(TYMP):c.1421C>T (p.Ala474Val)	LOC130067862, SCO2 +1 more (A474V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1093209	NM_001953.5(TYMP):c.1419C>T (p.Phe473=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2095003	NM_001953.5(TYMP):c.1416C>A (p.Pro472=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1144061	NM_001953.5(TYMP):c.1416C>T (p.Pro472=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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