"GeneDx"[submitter] AND "LOC129388577"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 450369	NM_001377295.2(GNAT2):c.720+5G>C	GNAT2, LOC129388577	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic

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