ClinVar for OMIM (Select 116940) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545471	NM_001105558.1(WEE2):c.224_227del (p.Glu75fs)	WEE2, WEE2-AS1 (E75fs)	Microsatellite (frameshift variant)	Oocyte maturation defect 5	GPathogenic
Select item 545470	NM_001105558.1(WEE2):c.1477dup (p.Thr493fs)	WEE2, WEE2-AS1 (T493fs)	Duplication (frameshift variant)	Oocyte maturation defect 5	GPathogenic
Select item 545469	NM_001105558.1(WEE2):c.700G>C (p.Asp234His)	WEE2, WEE2-AS1 (D234H)	Single nucleotide variant (missense variant)	Oocyte maturation defect 5	GPathogenic

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