"Revvity Omics, Revvity"[submitter] AND "BUB1B"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439583	NM_001211.6(BUB1B):c.727A>G (p.Ile243Val)	BUB1B (I243V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690554	NM_001211.6(BUB1B):c.948_966del19 (p.Arg317fs)	BUB1B (R317fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1325385	NM_001211.6(BUB1B):c.1672del (p.Ala559fs)	BUB1B (A559fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1325384	NM_001211.6(BUB1B):c.2328dup (p.Asp777fs)	BUB1B (D777fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic

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