"GeneDx"[submitter] AND "LOC130063194"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 561377	NM_030662.3(MAP2K2):c.-285G>T	LOC130063194, MAP2K2	Single nucleotide variant	not provided	GBenign
Select item 561429	NM_030662.3(MAP2K2):c.-366G>A	LOC130063194, MAP2K2	Single nucleotide variant	not provided	GBenign

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