CBFB[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1238725	NM_022845.3(CBFB):c.79-18G>T	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2631101	NM_022845.3(CBFB):c.90_102del (p.Phe32fs)	CBFB (F32fs)	Deletion (frameshift variant)	CBFB-related disorder	GUncertain significance
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 3031632	NM_022845.3(CBFB):c.282+10A>G	CBFB	Single nucleotide variant (intron variant)	CBFB-related disorder	GLikely benign
Select item 1232488	NM_022845.3(CBFB):c.282+204C>T	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712243	NM_022845.3(CBFB):c.283-1039_400-7568del	CBFB	Deletion (splice acceptor variant +2 more)	Cleidocranial dysplasia 2	GPathogenic
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 930504	NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)	CBFB (P61fs +1 more)	Duplication (frameshift variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1287412	NM_022845.3(CBFB):c.400-206T>C	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2473963	NM_022845.3(CBFB):c.439C>G (p.Arg147Gly)	CBFB (R147G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265589	NM_022845.3(CBFB):c.495+144G>A	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137955	NM_022845.3(CBFB):c.518G>A (p.Ser173Asn)	CBFB (S134N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046641	NM_022845.3(CBFB):c.*2dup	CBFB	Duplication (3 prime UTR variant)	CBFB-related disorder	GLikely benign