"GeneDx"[submitter] AND "LOC122056894"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 3360054	NM_001145511.2(NFIA):c.3+4318G>A	LOC122056894, NFIA (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2505589	NM_001145511.2(NFIA):c.3+4362C>T	LOC122056894, NFIA (T16M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662449	NM_001145511.2(NFIA):c.3+4381C>A	LOC122056894, NFIA (C22*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

ClinVar