LOC132090454[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
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 689482	NC_000017.11:g.12269251_12706280del	LINC00670, LOC125177420 +5 more	Deletion	Prune belly syndrome +1 more	GPathogenic
Select item 3235931	GRCh38/hg38 17p12(chr17:12453983-12791857)	ARHGAP44, ARHGAP44-AS1 +7 more	Copy number loss	Megabladder, congenital	GLikely pathogenic

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