"GeneDx"[submitter] AND "FAM114A2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1288622	NM_018691.4(FAM114A2):c.364G>A (p.Gly122Ser)	FAM114A2 (G122S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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