ClinVar for MedGen (Select 898849) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627933	NM_032485.6(MCM8):c.1404C>A (p.Cys468Ter)	MCM8 (C421* +3 more)	Single nucleotide variant (nonsense)	Premature ovarian failure 10	GLikely pathogenic
Select item 1806488	NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter)	MCM8 (R345*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 10	GConflicting classifications of pathogenicity
Select item 1708992	NM_032485.6(MCM8):c.134G>A (p.Gly45Glu)	MCM8 (G45E)	Single nucleotide variant (missense variant)	Premature ovarian failure 10	GUncertain significance
Select item 1214009	NM_032485.6(MCM8):c.1953+1G>C	MCM8	Single nucleotide variant (splice donor variant)	Premature ovarian failure 10	GLikely pathogenic
Select item 1049848	NM_032485.6(MCM8):c.2059C>T (p.Arg687Ter)	MCM8 (R640* +3 more)	Single nucleotide variant (nonsense)	Premature ovarian failure 10	GPathogenic
Select item 812137	NM_032485.6(MCM8):c.925C>T (p.Arg309Ter)	MCM8 (R309*)	Single nucleotide variant (nonsense)	Premature ovarian failure 10	GPathogenic
Select item 812133	NM_032485.6(MCM8):c.1330A>G (p.Ile444Val)	MCM8 (I428V +2 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 10	GUncertain significance
Select item 812132	NM_032485.6(MCM8):c.89A>C (p.Lys30Thr)	MCM8 (K30T)	Single nucleotide variant (missense variant)	Premature ovarian failure 10	GUncertain significance
Select item 208811	NM_032485.6(MCM8):c.1470_1471insTA (p.Leu491fs)	MCM8 (L531fs +3 more)	Insertion (frameshift variant)	Premature ovarian failure 10	GPathogenic
Select item 208810	NM_032485.6(MCM8):c.1954-1G>A	MCM8	Single nucleotide variant (splice acceptor variant)	Premature ovarian failure 10	GPathogenic
Select item 161191	NM_032485.6(MCM8):c.446C>G (p.Pro149Arg)	MCM8 (P149R)	Single nucleotide variant (missense variant)	Premature ovarian failure 10	GPathogenic