LOC110120570[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 146126	GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	ADAMTS18, ADAT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 1341791	NC_000016.10:g.77893032_78561479dup	CLEC3A, LOC110120570 +32 more	Duplication	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 148498	GRCh38/hg38 16q23.1(chr16:77899896-78547533)x3	CLEC3A, LOC110120570 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60026	GRCh38/hg38 16q23.1(chr16:77919420-78781576)x3	CLEC3A, LOC110120570 +35 more	Copy number gain	See cases	GUncertain significance
Select item 60027	GRCh38/hg38 16q23.1(chr16:77960806-78620032)x3	CLEC3A, LOC110120570 +31 more	Copy number gain	See cases	GUncertain significance
Select item 152655	GRCh38/hg38 16q23.1(chr16:78064581-78672125)x3	LOC110120570, LOC112486209 +14 more	Copy number gain	See cases	GLikely benign
Select item 60028	GRCh38/hg38 16q23.1(chr16:78064581-78624387)x3	LOC110120570, LOC112486209 +14 more	Copy number gain	See cases	GUncertain significance
Select item 583748	NC_000016.9:g.(?_78133656)_(78658393_?)dup	LOC110120570, LOC112486209 +12 more	Duplication	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 153947	GRCh38/hg38 16q23.1(chr16:78185441-78554635)x1	LOC110120570, LOC112486209 +9 more	Copy number loss	See cases	GLikely benign
Select item 662278	NC_000016.9:g.(?_78312480)_(78658393_?)dup	LOC110120570, LOC112486209 +6 more	Duplication	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 655227	NC_000016.10:g.(?_78278583)_(80589366_?)del	LOC110120569, LOC110120570 +47 more	Deletion	Cataract 21 multiple types +1 more	GPathogenic
Select item 2498155	NM_016373.4:c.517-94998_1056+78427del	LOC110120570, LOC112486209 +5 more	Deletion	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 153750	GRCh38/hg38 16q23.1(chr16:78351090-78596922)x1	LOC110120570, LOC112486209 +2 more	Copy number loss	See cases	GUncertain significance
Select item 150456	GRCh38/hg38 16q23.1(chr16:78353142-78891829)x1	LOC110120570, LOC112486209 +5 more	Copy number loss	See cases	GLikely benign
Select item 60029	GRCh38/hg38 16q23.1(chr16:78455117-79029935)x3	LOC110120570, LOC125177356 +6 more	Copy number gain	See cases	GUncertain significance

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Items: 29