"GeneDx"[submitter] AND "LOC113875033"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58616	GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2	BMP15, CENPVL1 +77 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 1218367	NM_004187.5(KDM5C):c.-240G>A	KDM5C, LOC113875033	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1203206	NC_000023.11:g.53225210C>A	KDM5C, LOC113875033	Single nucleotide variant	not provided	GLikely benign

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