LOC114827849[gene] - ClinVar

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Search results

Items: 45

	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 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 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 149163	GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1	LOC126863174, LOC126863175 +129 more	Copy number loss	See cases	GUncertain significance
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 59094	GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3	CDPF1, CELSR1 +99 more	Copy number gain	See cases	GUncertain significance
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 161059	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 35217	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 59095	GRCh38/hg38 22q13.31(chr22:46281772-48028340)x3	CELSR1, CERK +75 more	Copy number gain	See cases	GUncertain significance
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 146262	GRCh38/hg38 22q13.31(chr22:46370888-47181144)x3	CELSR1, CERK +54 more	Copy number gain	See cases	GLikely benign
Select item 59096	GRCh38/hg38 22q13.31(chr22:46395546-47339207)x3	CELSR1, CERK +55 more	Copy number gain	See cases	GUncertain significance
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

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Items: 45