ClinVar for MedGen (Select 1641418) - ClinVar - NCBI

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Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13202831.	NM_001211.6(BUB1B):c.1083T>G (p.Ser361Arg) GRCh37: Chr15:40488770 GRCh38: Chr15:40196569	BUB1B	S361R	Mosaic variegated aneuploidy syndrome, Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11727482.	NM_001211.6(BUB1B):c.698A>G (p.Lys233Arg) GRCh37: Chr15:40476031 GRCh38: Chr15:40183830	BUB1B	K233R	Mosaic variegated aneuploidy syndrome, Inborn genetic diseases	Uncertain significance (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11727403.	NM_001211.6(BUB1B):c.667C>T (p.Gln223Ter) GRCh37: Chr15:40476000 GRCh38: Chr15:40183799	BUB1B	Q223*	Mosaic variegated aneuploidy syndrome	Likely pathogenic (Apr 22, 2021)	criteria provided, single submitter
Select item 8309224.	NC_000015.10:g.(?_40183704)_(40185652_?)del GRCh37: Chr15:40475905-40477853	BUB1B		Mosaic variegated aneuploidy syndrome, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Nov 14, 2019)	criteria provided, single submitter
Select item 5837435.	NC_000015.9:g.(?_40453416)_(40512966_?)dup GRCh37: Chr15:40453416-40512966 GRCh38: Chr15:40161215-40220765	BUB1B, BUB1B-PAK6, LOC129390686, LOC130056830, LOC130056831		Mosaic variegated aneuploidy syndrome	Uncertain significance (Apr 10, 2018)	criteria provided, single submitter
Select item 4653706.	NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys) GRCh37: Chr15:40462740 GRCh38: Chr15:40170539	BUB1B	Y81C	Premature chromatid separation trait, Colorectal cancer, Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4317987.	NM_014679.5(CEP57):c.724del (p.Arg242fs) GRCh37: Chr11:95555059 GRCh38: Chr11:95821895	CEP57	R233fs, R215fs, R242fs	Mosaic variegated aneuploidy syndrome	Pathogenic	no assertion criteria provided
Select item 1337798.	NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) GRCh37: Chr15:40477786 GRCh38: Chr15:40185585	BUB1B	P334L	Mosaic variegated aneuploidy syndrome, Mosaic variegated aneuploidy syndrome 1, Carcinoma of colon, Premature chromatid separation trait, not provided, Mosaic variegated aneuploidy syndrome 1	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations