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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 1263356	NM_022845.3(CBFB):c.78+111G>A	CBFB, LOC130059175	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238725	NM_022845.3(CBFB):c.79-18G>T	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712245	NM_022845.3(CBFB):c.247C>T (p.Arg83Ter)	CBFB (R83*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1232488	NM_022845.3(CBFB):c.282+204C>T	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712246	NM_022845.3(CBFB):c.283-2A>G	CBFB	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1287412	NM_022845.3(CBFB):c.400-206T>C	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265589	NM_022845.3(CBFB):c.495+144G>A	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign