ClinVar for MedGen (Select 1840962) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064850	NM_001255.3(CDC20):c.556+1G>T	CDC20	Single nucleotide variant (splice donor variant)	Oocyte maturation defect 14	GLikely pathogenic
Select item 2443925	NM_001255.3(CDC20):c.1155G>C (p.Trp385Cys)	CDC20 (W385C)	Single nucleotide variant (missense variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443924	NM_001255.3(CDC20):c.330+1G>A	CDC20	Single nucleotide variant (splice donor variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443923	NM_001255.3(CDC20):c.964C>T (p.Arg322Ter)	CDC20 (R322*)	Single nucleotide variant (nonsense)	Oocyte maturation defect 14	GPathogenic
Select item 2443922	NM_001255.3(CDC20):c.784C>T (p.Arg262Ter)	CDC20 (R262*)	Single nucleotide variant (nonsense)	Oocyte maturation defect 14	GPathogenic
Select item 2443921	NM_001255.3(CDC20):c.631G>A (p.Ala211Thr)	CDC20 (A211T)	Single nucleotide variant (missense variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443920	NM_001255.3(CDC20):c.1176_1179del (p.Ala391_Cys392insTer)	CDC20	Deletion (nonsense)	Oocyte maturation defect 14	GPathogenic
Select item 2443919	NM_001255.3(CDC20):c.810_813dup (p.Gly272fs)	CDC20 (G272fs)	Duplication (frameshift variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443918	NM_001255.3(CDC20):c.544C>T (p.Arg182Ter)	CDC20	Single nucleotide variant (nonsense)	Oocyte maturation defect 14	GPathogenic
Select item 2443917	NM_001255.3(CDC20):c.965G>A (p.Arg322Gln)	CDC20 (R322Q)	Single nucleotide variant (missense variant)	Oocyte maturation defect 14	GPathogenic
Select item 2443916	NM_001255.3(CDC20):c.683A>G (p.Tyr228Cys)	CDC20	Single nucleotide variant (missense variant)	Oocyte maturation defect 14	GPathogenic