ClinVar for MedGen (Select 1824053) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806483	NM_004336.5(BUB1):c.2197dup (p.Ala733fs)	BUB1 (A713fs +1 more)	Duplication (frameshift variant)	Microcephaly 30, primary, autosomal recessive	GPathogenic
Select item 1806482	NM_004336.5(BUB1):c.2625+1G>A	BUB1	Single nucleotide variant (splice donor variant)	Microcephaly 30, primary, autosomal recessive	GPathogenic
Select item 1806481	NM_004336.5(BUB1):c.2T>G (p.Met1Arg)	BUB1 (M1R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 30, primary, autosomal recessive	GPathogenic

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