"GeneDx"[submitter] AND "LOC130064892"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 329786	NM_000146.4(FTL):c.73C>T (p.Leu25=)	FTL, LOC130064892	Single nucleotide variant (synonymous variant)	FTL-related condition +3 more	GBenign/Likely benign

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