LOC112529896[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 58100	GRCh38/hg38 17p12(chr17:14126296-15659587)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 8430	NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del	CDRT15, CDRT3 +25 more	Deletion	Hereditary liability to pressure palsies +2 more	GPathogenic
Select item 545215	NC_000017.11:g.(?_14178908)_(15518547_?)del	CDRT15, CDRT3 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 154234	GRCh38/hg38 17p12(chr17:14179737-15664355)x3	COX10, CDRT15 +27 more	Copy number gain	See cases	GPathogenic
Select item 154140	GRCh38/hg38 17p12(chr17:14179737-15571773)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 545216	NC_000017.11:g.(?_14183541)_(15573247_?)del	LOC130060304, LOC130060305 +25 more	Deletion	Autism	GLikely pathogenic
Select item 155232	GRCh38/hg38 17p12(chr17:14184470-15586786)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 155236	GRCh38/hg38 17p12(chr17:14184616-15597331)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 153289	GRCh38/hg38 17p12(chr17:14184616-15588218)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153241	GRCh38/hg38 17p12(chr17:14184616-15581544)x1	TEKT3, TVP23C +25 more	Copy number loss	See cases	GPathogenic
Select item 153240	GRCh38/hg38 17p12(chr17:14184616-15581544)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152376	GRCh38/hg38 17p12(chr17:14184616-15581044)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152875	GRCh38/hg38 17p12(chr17:14186983-15570276)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 58103	GRCh38/hg38 17p12(chr17:14186983-15563870)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 58102	GRCh38/hg38 17p12(chr17:14186983-15578926)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 160871	GRCh38/hg38 17p12(chr17:14208455-15538752)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 154772	GRCh38/hg38 17p12(chr17:14208455-15579558)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 149424	GRCh38/hg38 17p12(chr17:14208455-15579558)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 148562	GRCh38/hg38 17p12(chr17:14208455-15538755)x1	CDRT15, CDRT3 +21 more	Copy number loss	See cases	GPathogenic
Select item 148561	GRCh38/hg38 17p12(chr17:14208455-15538755)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 147669	GRCh38/hg38 17p12(chr17:14208455-15588434)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 33735	GRCh38/hg38 17p12(chr17:14208455-15538752)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 32888	GRCh38/hg38 17p12(chr17:14208455-15538752)x1	CDRT4, CDRT7 +21 more	Copy number loss	See cases	GPathogenic
Select item 148716	GRCh38/hg38 17p12(chr17:14671118-15952996)x1	ADORA2B, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 154394	GRCh38/hg38 17p12(chr17:15140036-15708439)x3	CDRT3, CDRT4 +15 more	Copy number gain	See cases	GUncertain significance
Select item 150382	GRCh38/hg38 17p12(chr17:15190283-15952996)x3	ADORA2B, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	ADORA2B, ALKBH5 +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	LOC130060373, LOC130060374 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic

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Items: 32