LOC121587563[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 655227	NC_000016.10:g.(?_78278583)_(80589366_?)del	LOC132090434, LOC132090435 +47 more	Deletion	Cataract 21 multiple types +1 more	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 57099	GRCh38/hg38 16q23.2(chr16:79455147-81109328)x1	ARLNC1, ATMIN +59 more	Copy number loss	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 1196626	NM_005360.5(MAF):c.-759C>T	LOC121587563, MAF	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1251859	NM_005360.5(MAF):c.-780T>G	LOC121587563, MAF	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1192896	NC_000016.10:g.79600738A>G	LOC121587563, MAF	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign

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Items: 23