LOC130064339[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2346271	NM_001135155.3(DPF1):c.-17A>C	DPF1, LOC130064339	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3085442	NM_001135155.3(DPF1):c.-35C>A	DPF1, LOC130064339	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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