ClinVar for MedGen (Select 1641418) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320283	NM_001211.6(BUB1B):c.1083T>G (p.Ser361Arg)	BUB1B (S361R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome +2 more	GUncertain significance
Select item 1172748	NM_001211.6(BUB1B):c.698A>G (p.Lys233Arg)	BUB1B (K233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1172740	NM_001211.6(BUB1B):c.667C>T (p.Gln223Ter)	BUB1B (Q223*)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome	GLikely pathogenic
Select item 830922	NC_000015.10:g.(?_40183704)_(40185652_?)del	BUB1B	Deletion	Mosaic variegated aneuploidy syndrome +1 more	GUncertain significance
Select item 583743	NC_000015.9:g.(?_40453416)_(40512966_?)dup	BUB1B, BUB1B-PAK6 +3 more	Duplication	Mosaic variegated aneuploidy syndrome	GUncertain significance
Select item 465370	NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys)	BUB1B (Y81C)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GUncertain significance
Select item 431798	NM_014679.5(CEP57):c.724del (p.Arg242fs)	CEP57 (R233fs +2 more)	Deletion (frameshift variant)	Mosaic variegated aneuploidy syndrome	GPathogenic
Select item 133779	NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)	BUB1B (P334L)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +4 more	GConflicting classifications of pathogenicity

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