ClinVar for OMIM (Select 617712) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068101	NM_001110354.2(ZP3):c.581A>T (p.Asp194Val)	ZP3 (D143V +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 3	GUncertain significance
Select item 2518482	NM_001110354.2(ZP3):c.623T>C (p.Val208Ala)	ZP3 (V208A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1333775	NM_001110354.2(ZP3):c.157dup (p.Val53fs)	ZP3 (V2fs +1 more)	Duplication (frameshift variant +1 more)	Oocyte maturation defect 3	GLikely pathogenic
Select item 768162	NM_001110354.2(ZP3):c.923+8_923+10del	ZP3	Microsatellite (intron variant)	Oocyte maturation defect 3 +1 more	GBenign/Likely benign
Select item 695115	NM_207341.4(ZP1):c.769C>T (p.Gln257Ter)	ZP1 (Q257*)	Single nucleotide variant (nonsense)	Oocyte maturation defect 3	GPathogenic
Select item 689403	NM_001110354.2(ZP3):c.763C>G (p.Arg255Gly)	ZP3 (R255G +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 3	GPathogenic
Select item 437933	NM_001110354.2(ZP3):c.400G>A (p.Ala134Thr)	ZP3 (A134T +1 more)	Single nucleotide variant (missense variant)	Empty follicle syndrome +1 more	GPathogenic

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