"GeneDx"[submitter] AND "LOC129933127"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 152514	GRCh38/hg38 2p25.1(chr2:11616843-11804136)x3	GREB1, LOC100506405 +14 more	Copy number gain	See cases	GLikely benign
Select item 452931	NM_001349206.2(LPIN1):c.-10+4A>G	LOC129933127, LPIN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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