LOC125446261[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 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 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	GUncertain significance
Select item 153101	GRCh38/hg38 22q13.33(chr22:50055231-50202728)x1	LOC125446261, LOC130067807 +24 more	Copy number loss	See cases	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 2911562	NM_015166.4(MLC1):c.267+19G>A	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732873	NM_015166.4(MLC1):c.267+18C>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624940	NM_015166.4(MLC1):c.267+18C>A	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971861	NM_015166.4(MLC1):c.267+17A>G	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984201	NM_015166.4(MLC1):c.267+16C>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647198	NM_015166.4(MLC1):c.267+9C>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783030	NM_015166.4(MLC1):c.267+1G>A	LOC125446261, MLC1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 2676567	NM_015166.4(MLC1):c.263G>T (p.Gly88Val)	MLC1, LOC125446261 (G88V +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2502880	NM_015166.4(MLC1):c.260C>T (p.Ala87Val)	LOC125446261, MLC1 (A87V +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 2919693	NM_015166.4(MLC1):c.257C>T (p.Ala86Val)	LOC125446261, MLC1 (A7V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 916730	NM_015166.4(MLC1):c.256G>C (p.Ala86Pro)	LOC125446261, MLC1 (A86P +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 1449030	NM_015166.4(MLC1):c.255T>G (p.Cys85Trp)	LOC125446261, MLC1 (C6W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2676559	NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)	LOC125446261, MLC1 (C6Y +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 1331500	NM_015166.4(MLC1):c.251G>A (p.Arg84His)	LOC125446261, MLC1 (R5H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 68791	NM_015166.4(MLC1):c.250C>T (p.Arg84Cys)	LOC125446261, MLC1 (R84C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 1162193	NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)	LOC125446261, MLC1 (L4F +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GLikely pathogenic
Select item 2730216	NM_015166.4(MLC1):c.247T>A (p.Leu83Met)	LOC125446261, MLC1 (L83M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1107992	NM_015166.4(MLC1):c.246C>T (p.Tyr82=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 68790	NM_015166.4(MLC1):c.240G>A (p.Met80Ile)	LOC125446261, MLC1 (M80I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553750	NM_015166.4(MLC1):c.235G>A (p.Glu79Lys)	LOC125446261, MLC1 (E79K)	Single nucleotide variant (missense variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GUncertain significance
Select item 1112240	NM_015166.4(MLC1):c.231G>A (p.Pro77=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1033743	NM_015166.4(MLC1):c.230C>T (p.Pro77Leu)	LOC125446261, MLC1 (P77L)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1899894	NM_015166.4(MLC1):c.229C>G (p.Pro77Ala)	LOC125446261, MLC1 (P77A)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2057295	NM_015166.4(MLC1):c.225G>C (p.Val75=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2077279	NM_015166.4(MLC1):c.223G>A (p.Val75Met)	LOC125446261, MLC1 (V75M)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 202208	NM_015166.4(MLC1):c.223del (p.Val75fs)	LOC125446261, MLC1 (V75fs)	Deletion (frameshift variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GPathogenic
Select item 795307	NM_015166.4(MLC1):c.222C>T (p.Asn74=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 646457	NM_015166.4(MLC1):c.218G>A (p.Gly73Glu)	LOC125446261, MLC1 (G73E)	Single nucleotide variant (missense variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic
Select item 2737056	NM_015166.4(MLC1):c.217G>A (p.Gly73Arg)	LOC125446261, MLC1 (G73R)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 262457	NM_015166.4(MLC1):c.216G>A (p.Leu72=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 2760973	NM_015166.4(MLC1):c.213C>T (p.Tyr71=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2123543	NM_015166.4(MLC1):c.207G>C (p.Ser69=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1626670	NM_015166.4(MLC1):c.207G>T (p.Ser69=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1615896	NM_015166.4(MLC1):c.207G>A (p.Ser69=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign

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