"GeneDx"[submitter] AND "LOC129929133"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 2502134	NM_001170535.3(ATAD3A):c.-1C>T	ATAD3A, LOC129929133	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1710696	NM_001170535.3(ATAD3A):c.2T>A (p.Met1Lys)	ATAD3A, LOC129929133 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic

ClinVar