"PreventionGenetics, part of Exact Sciences"[submitter] AND "CBFB"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054501	NM_022845.3(CBFB):c.78+8_78+11del	CBFB, LOC130059175	Microsatellite (intron variant)	CBFB-related disorder	GLikely benign
Select item 2631101	NM_022845.3(CBFB):c.90_102del (p.Phe32fs)	CBFB (F32fs)	Deletion (frameshift variant)	CBFB-related disorder	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 3046641	NM_022845.3(CBFB):c.*2dup	CBFB	Duplication (3 prime UTR variant)	CBFB-related disorder	GLikely benign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File