Related gene-specific medical variations for Gene (Select 865) - ClinVar

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	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 1712242	NM_022845.3(CBFB):c.78+1G>T	CBFB, LOC130059175	Single nucleotide variant (splice donor variant)	Cleidocranial dysplasia 2	GPathogenic
Select item 1263356	NM_022845.3(CBFB):c.78+111G>A	CBFB, LOC130059175	Single nucleotide variant (intron variant)	not provided	GBenign

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