"GeneDx"[submitter] AND "LOC132088996"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 57893	GRCh38/hg38 4q25(chr4:109800241-109990141)x3	CFI, EGF +12 more	Copy number gain	See cases	GUncertain significance
Select item 1316769	NM_001963.6(EGF):c.941-106T>C	EGF, LOC132088996	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264142	NM_001963.6(EGF):c.941-104T>C	EGF, LOC132088996	Single nucleotide variant (intron variant)	not provided	GBenign

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