"GeneDx"[submitter] AND "LOC129929239"[gene] - ClinVar - NCBI

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Items: 5

	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 1202200	NM_031475.3(ESPN):c.-49G>A	ESPN, LOC129929239	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1207661	NM_031475.3(ESPN):c.-13C>T	ESPN, LOC129929239	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

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