ClinVar for MedGen (Select 898849) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26279331.	NM_032485.6(MCM8):c.1404C>A (p.Cys468Ter) GRCh37: Chr20:5958530 GRCh38: Chr20:5977884	MCM8	C421, C452, C468, C508	Premature ovarian failure 10	Likely pathogenic (Nov 1, 2023)	criteria provided, single submitter
Select item 18064882.	NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter) GRCh37: Chr20:5948481 GRCh38: Chr20:5967835	MCM8	R345*	Premature ovarian failure 10	Likely pathogenic (Dec 15, 2022)	criteria provided, single submitter
Select item 17089923.	NM_032485.6(MCM8):c.134G>A (p.Gly45Glu) GRCh37: Chr20:5932795 GRCh38: Chr20:5952149	MCM8	G45E	Premature ovarian failure 10	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 12140094.	NM_032485.6(MCM8):c.1953+1G>C GRCh37: Chr20:5965647 GRCh38: Chr20:5985001	MCM8		Premature ovarian failure 10	Likely pathogenic (Feb 9, 2021)	no assertion criteria provided
Select item 10498485.	NM_032485.6(MCM8):c.2059C>T (p.Arg687Ter) GRCh37: Chr20:5966673 GRCh38: Chr20:5986027	MCM8	R640, R671, R687, R727	Premature ovarian failure 10	Pathogenic	no assertion criteria provided
Select item 8121376.	NM_032485.6(MCM8):c.925C>T (p.Arg309Ter) GRCh37: Chr20:5948131 GRCh38: Chr20:5967485	MCM8	R309*	Premature ovarian failure 10	Pathogenic (Apr 22, 2019)	criteria provided, single submitter
Select item 8121337.	NM_032485.6(MCM8):c.1330A>G (p.Ile444Val) GRCh37: Chr20:5953777 GRCh38: Chr20:5973131	MCM8	I428V, I444V, I484V	Premature ovarian failure 10	Uncertain significance (Apr 22, 2019)	criteria provided, single submitter
Select item 8121328.	NM_032485.6(MCM8):c.89A>C (p.Lys30Thr) GRCh37: Chr20:5932750 GRCh38: Chr20:5952104	MCM8	K30T	Premature ovarian failure 10	Uncertain significance (Apr 22, 2019)	criteria provided, single submitter
Select item 2088119.	NM_032485.6(MCM8):c.1470_1471insTA (p.Leu491fs) GRCh37: Chr20:5958596-5958597 GRCh38: Chr20:5977950-5977951	MCM8	L531fs, L444fs, L475fs, L491fs	Premature ovarian failure 10	Pathogenic (Jun 1, 2015)	no assertion criteria provided
Select item 20881010.	NM_032485.6(MCM8):c.1954-1G>A GRCh37: Chr20:5966567 GRCh38: Chr20:5985921	MCM8		Premature ovarian failure 10	Pathogenic (Jun 1, 2015)	no assertion criteria provided
Select item 16119111.	NM_032485.6(MCM8):c.446C>G (p.Pro149Arg) GRCh37: Chr20:5935857 GRCh38: Chr20:5955211	MCM8	P149R	Premature ovarian failure 10	Pathogenic (Dec 1, 2014)	no assertion criteria provided