"GeneDx"[submitter] AND "ITFG2"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 432256	NM_018463.4(ITFG2):c.425A>G (p.Glu142Gly)	ITFG2 (E142G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253551	GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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