"GeneDx"[submitter] AND "ABR"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 59559	GRCh38/hg38 17p13.3(chr17:855404-1345517)x1	ABR, ABR-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 151499	GRCh38/hg38 17p13.3(chr17:954820-1009440)x3	ABR, LOC121587569 +2 more	Copy number gain	See cases	GLikely benign
Select item 151085	GRCh38/hg38 17p13.3(chr17:1078810-1170736)x1	ABR	Copy number loss	See cases	GUncertain significance
Select item 253951	GRCh37/hg19 17p13.3(chr17:1061693-1256253)x3	BHLHA9, TRARG1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253899	GRCh37/hg19 17p13.3(chr17:1061693-1264288)x3	BHLHA9, TRARG1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253888	GRCh37/hg19 17p13.3(chr17:290384-1172699)x1	ABR, GEMIN4 +7 more	Copy number loss	See cases	GUncertain significance
Select item 253702	GRCh37/hg19 17p13.3(chr17:901963-1193424)x3	ABR, BHLHA9 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253349	GRCh37/hg19 17p13.3(chr17:961016-1641881)x3	ABR, BHLHA9 +13 more	Copy number gain	See cases	GLikely pathogenic