"GeneDx"[submitter] AND "DRD5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 57827	GRCh38/hg38 4p16.1(chr4:9381969-10163409)x3	DEFB131A, DRD5 +29 more	Copy number gain	See cases	GUncertain significance
Select item 1243205	NM_000798.5(DRD5):c.-226G>C	DRD5, SLC2A9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1287057	NM_000798.5(DRD5):c.*47T>C	DRD5, SLC2A9	Single nucleotide variant (3 prime UTR variant)	Hereditary attention deficit-hyperactivity disorder +1 more	GConflicting classifications of pathogenicity
Select item 1270964	NM_000798.5(DRD5):c.*178G>T	DRD5, SLC2A9	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic

ClinVar