1102[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 225

<< First< Prev

Page of 3

	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 154098	GRCh38/hg38 22q13.32-13.33(chr22:48796350-49805128)x3	BRD1, LINC01310 +23 more	Copy number gain	See cases	GUncertain significance
Select item 155644	GRCh38/hg38 22q13.32-13.33(chr22:48904534-50138137)x3	ALG12, BRD1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 146908	GRCh38/hg38 22q13.33(chr22:49199841-49787792)x3	BRD1, LOC111828509 +12 more	Copy number gain	See cases	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 722639	NM_001304808.3(BRD1):c.3549C>T (p.Ser1183=)	BRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2240958	NM_001304808.3(BRD1):c.3535G>A (p.Gly1179Arg)	BRD1 (G534R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746333	NM_001304808.3(BRD1):c.3528C>T (p.Arg1176=)	BRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2340657	NM_001304808.3(BRD1):c.3505C>T (p.Arg1169Cys)	BRD1 (R1164C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207254	NM_001304808.3(BRD1):c.3436A>G (p.Ile1146Val)	BRD1 (I1015V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370574	NM_001304808.3(BRD1):c.3319G>C (p.Glu1107Gln)	BRD1 (E1102Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489491	NM_001304808.3(BRD1):c.3314T>C (p.Ile1105Thr)	BRD1 (I1098T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653349	NM_001304808.3(BRD1):c.3309G>A (p.Leu1103=)	BRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 724375	NM_001304808.3(BRD1):c.3279C>G (p.Val1093=)	BRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2601385	NM_001304808.3(BRD1):c.3253C>T (p.Arg1085Cys)	BRD1 (R1078C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719862	NM_001304808.3(BRD1):c.3159C>T (p.Ala1053=)	BRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3134949	NM_001304808.3(BRD1):c.3133A>G (p.Ser1045Gly)	BRD1 (S1045G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134948	NM_001304808.3(BRD1):c.3128G>C (p.Gly1043Ala)	BRD1 (G1041A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380059	NM_001304808.3(BRD1):c.3127G>A (p.Gly1043Ser)	BRD1 (G529S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 763917	NM_001304808.3(BRD1):c.3122-4G>A	BRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2227753	NM_001304808.3(BRD1):c.3115G>A (p.Ala1039Thr)	BRD1 (A908T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261668	NM_001304808.3(BRD1):c.3074C>T (p.Ser1025Phe)	BRD1 (S1023F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134947	NM_001304808.3(BRD1):c.3062G>C (p.Ser1021Thr)	BRD1 (S890T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781531	NM_001304808.3(BRD1):c.3060C>T (p.Arg1020=)	BRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2246710	NM_001304808.3(BRD1):c.3059G>A (p.Arg1020His)	BRD1 (R1013H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261666	NM_001304808.3(BRD1):c.2986G>T (p.Asp996Tyr)	BRD1 (D914Y +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312016	NM_001304808.3(BRD1):c.2981T>C (p.Leu994Pro)	BRD1 (L480P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508110	NM_001304808.3(BRD1):c.2978C>T (p.Pro993Leu)	BRD1 (P862L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261664	NM_001304808.3(BRD1):c.2977C>A (p.Pro993Thr)	BRD1 (P993T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261662	NM_001304808.3(BRD1):c.2969G>A (p.Ser990Asn)	BRD1 (S859N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218423	NM_001304808.3(BRD1):c.2936G>A (p.Arg979Gln)	BRD1 (R848Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383354	NM_001304808.3(BRD1):c.2923G>C (p.Ala975Pro)	BRD1 (A893P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330938	NM_001304808.3(BRD1):c.2905G>A (p.Gly969Ser)	BRD1 (G838S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2234449	NM_001304808.3(BRD1):c.2882C>T (p.Ala961Val)	BRD1 (A447V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134946	NM_001304808.3(BRD1):c.2879G>A (p.Gly960Asp)	BRD1 (G446D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134945	NM_001304808.3(BRD1):c.2846G>A (p.Arg949His)	BRD1 (R435H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721966	NM_001304808.3(BRD1):c.2808C>T (p.Cys936=)	BRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2203959	NM_001304808.3(BRD1):c.2798G>A (p.Arg933Gln)	BRD1 (R802Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509473	NM_001304808.3(BRD1):c.2797C>G (p.Arg933Gly)	BRD1 (R931G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212714	NM_001304808.3(BRD1):c.2786G>C (p.Arg929Thr)	BRD1 (R284T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 755857	NM_001304808.3(BRD1):c.2349G>A (p.Ala783=)	BRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 3