"GeneDx"[submitter] AND "IRF2BP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 3371618	NM_182972.3(IRF2BP2):c.1665C>G (p.Cys555Trp)	IRF2BP2 (C539W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253343	NM_182972.3(IRF2BP2):c.1414A>G (p.Arg472Gly)	IRF2BP2 (R456G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505891	NM_182972.3(IRF2BP2):c.760G>A (p.Ala254Thr)	IRF2BP2 (A254T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575715	NM_182972.3(IRF2BP2):c.71T>G (p.Met24Arg)	IRF2BP2 (M24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic

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