79087[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 766

<< First< Prev

Page of 8

	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 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 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 2353380	NM_014838.3(ZBED4):c.14T>G (p.Leu5Trp)	ALG12, ZBED4 (L5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510143	NM_014838.3(ZBED4):c.15G>C (p.Leu5Phe)	ALG12, ZBED4 (L5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243067	NM_014838.3(ZBED4):c.37G>A (p.Gly13Ser)	ALG12, ZBED4 (G13S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495557	NM_014838.3(ZBED4):c.67A>C (p.Lys23Gln)	ALG12, ZBED4 (K23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309953	NM_014838.3(ZBED4):c.155C>T (p.Thr52Ile)	ALG12, ZBED4 (T52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359755	NM_014838.3(ZBED4):c.163G>A (p.Gly55Ser)	ALG12, ZBED4 (G55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599527	NM_014838.3(ZBED4):c.172C>T (p.Arg58Ter)	ALG12, ZBED4 (R58*)	Single nucleotide variant (nonsense)	Short stature	GPathogenic
Select item 3191808	NM_014838.3(ZBED4):c.176C>T (p.Ala59Val)	ALG12, ZBED4 (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786702	NM_014838.3(ZBED4):c.177G>A (p.Ala59=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2322825	NM_014838.3(ZBED4):c.206A>G (p.Lys69Arg)	ALG12, ZBED4 (K69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191811	NM_014838.3(ZBED4):c.212C>T (p.Pro71Leu)	ALG12, ZBED4 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532410	NM_014838.3(ZBED4):c.227C>T (p.Ser76Phe)	ALG12, ZBED4 (S76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191817	NM_014838.3(ZBED4):c.328C>T (p.Arg110Trp)	ALG12, ZBED4 (R110W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191819	NM_014838.3(ZBED4):c.373T>A (p.Phe125Ile)	ALG12, ZBED4 (F125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191821	NM_014838.3(ZBED4):c.409A>G (p.Met137Val)	ALG12, ZBED4 (M137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321593	NM_014838.3(ZBED4):c.422A>G (p.Lys141Arg)	ALG12, ZBED4 (K141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479607	NM_014838.3(ZBED4):c.551C>T (p.Ser184Phe)	ALG12, ZBED4 (S184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336807	NM_014838.3(ZBED4):c.586G>A (p.Ala196Thr)	ALG12, ZBED4 (A196T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191822	NM_014838.3(ZBED4):c.650C>T (p.Pro217Leu)	ALG12, ZBED4 (P217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615939	NM_014838.3(ZBED4):c.682T>C (p.Ser228Pro)	ALG12, ZBED4 (S228P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401794	NM_014838.3(ZBED4):c.716T>C (p.Met239Thr)	ALG12, ZBED4 (M239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454428	NM_014838.3(ZBED4):c.721G>A (p.Val241Ile)	ALG12, ZBED4 (V241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191823	NM_014838.3(ZBED4):c.736G>A (p.Gly246Ser)	ALG12, ZBED4 (G246S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380289	NM_014838.3(ZBED4):c.737G>A (p.Gly246Asp)	ALG12, ZBED4 (G246D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235558	NM_014838.3(ZBED4):c.804G>C (p.Glu268Asp)	ALG12, ZBED4 (E268D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291412	NM_014838.3(ZBED4):c.823C>A (p.Leu275Ile)	ALG12, ZBED4 (L275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479181	NM_014838.3(ZBED4):c.901A>C (p.Asn301His)	ALG12, ZBED4 (N301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191802	NM_014838.3(ZBED4):c.1006C>T (p.Arg336Cys)	ALG12, ZBED4 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497703	NM_014838.3(ZBED4):c.1006C>G (p.Arg336Gly)	ALG12, ZBED4 (R336G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2561422	NM_014838.3(ZBED4):c.1015G>A (p.Val339Met)	ALG12, ZBED4 (V339M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333815	NM_014838.3(ZBED4):c.1034G>A (p.Gly345Asp)	ALG12, ZBED4 (G345D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246879	NM_014838.3(ZBED4):c.1037C>T (p.Thr346Met)	ALG12, ZBED4 (T346M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333817	NM_014838.3(ZBED4):c.1055A>T (p.Tyr352Phe)	ALG12, ZBED4 (Y352F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524969	NM_014838.3(ZBED4):c.1091C>T (p.Pro364Leu)	ALG12, ZBED4 (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276945	NM_014838.3(ZBED4):c.1094C>T (p.Pro365Leu)	ALG12, ZBED4 (P365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508306	NM_014838.3(ZBED4):c.1121C>T (p.Ser374Leu)	ALG12, ZBED4 (S374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333812	NM_014838.3(ZBED4):c.1124C>T (p.Ser375Phe)	ALG12, ZBED4 (S375F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 8