"GeneDx"[submitter] AND "LOC129937077"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145882	GRCh38/hg38 3p12.2(chr3:80214687-83388676)x3	GBE1, LINC02008 +16 more	Copy number gain	See cases	GLikely benign
Select item 57801	GRCh38/hg38 3p12.2-12.1(chr3:81504313-85127899)x1	CADM2, GBE1 +20 more	Copy number loss	See cases	GPathogenic
Select item 1214827	NM_000158.4(GBE1):c.143+297_143+298del	GBE1, LOC129937077	Deletion (intron variant)	not provided	GLikely benign

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