"GeneDx"[submitter] AND "LOC129929241"[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 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 2578308	NM_031475.3(ESPN):c.665T>A (p.Ile222Asn)	ESPN, LOC129929241 (I222N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 680211	NM_031475.3(ESPN):c.675+9C>G	ESPN, LOC129929241	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508703	NM_031475.3(ESPN):c.675+9C>T	ESPN, LOC129929241	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1280932	NM_031475.3(ESPN):c.675+47G>A	ESPN, LOC129929241	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259520	NM_031475.3(ESPN):c.676-89dup	ESPN, LOC129929241	Duplication (intron variant)	not provided	GBenign
Select item 1217526	NM_031475.3(ESPN):c.676-89del	LOC129929241, ESPN	Deletion (intron variant)	not provided	GLikely benign

ClinVar