"GeneDx"[submitter] AND "ASAH1-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 1225771	NC_000008.11:g.18085219_18085221del	ASAH1, ASAH1-AS1	Deletion	not provided	GBenign
Select item 1191485	NC_000008.11:g.18085242G>T	ASAH1, ASAH1-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1243813	NC_000008.11:g.18085340T>C	ASAH1, ASAH1-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic

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