"GeneDx"[submitter] AND "LOC130065584"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 58970	GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3	ABHD12, ENTPD6 +31 more	Copy number gain	See cases	GUncertain significance
Select item 58971	GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3	ABHD12, ENTPD6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1218978	NM_001042472.3(ABHD12):c.191+176C>G	ABHD12, LOC130065584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187370	NM_001042472.3(ABHD12):c.191+127C>T	ABHD12, LOC130065584	Single nucleotide variant (intron variant)	not provided	GLikely benign

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