"GeneDx"[submitter] AND "LOC129992244"[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 151725	GRCh38/hg38 4p16.1(chr4:9813097-10873771)x3	CLNK, LOC116158485 +34 more	Copy number gain	See cases	GUncertain significance
Select item 1226858	NM_020041.3(SLC2A9):c.249+119G>A	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234312	NM_020041.3(SLC2A9):c.249+35C>T	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar