"GeneDx"[submitter] AND "LOC129997732"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 152911	GRCh38/hg38 7p22.3(chr7:689554-854872)x3	DNAAF5, LOC123924885 +15 more	Copy number gain	See cases	GUncertain significance
Select item 1248413	NM_017802.4(DNAAF5):c.595+30C>A	DNAAF5, LOC129997732 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197785	NM_017802.4(DNAAF5):c.595+116C>T	LOC129997732, PRKAR1B +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar