"GeneDx"[submitter] AND "LOC130060995"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1181888	NM_002055.5(GFAP):c.907-98C>G	GFAP, LOC130060995	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66511	NM_002055.5(GFAP):c.907-100A>C	GFAP, LOC130060995	Single nucleotide variant (intron variant)	not provided	GBenign

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