ClinVar for MedGen (Select 862728) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438696	NM_207341.4(ZP1):c.72G>A (p.Leu24=)	ZP1	Single nucleotide variant (synonymous variant)	Female infertility due to zona pellucida defect	GUncertain significance
Select item 1709476	NM_207341.4(ZP1):c.1378G>A (p.Ala460Thr)	ZP1 (A167T +2 more)	Single nucleotide variant (missense variant)	Female infertility due to zona pellucida defect	GUncertain significance
Select item 1172840	NM_001372179.1(PABPC1L):c.1037C>T (p.Ala346Val)	PABPC1L (A346V)	Single nucleotide variant (missense variant +1 more)	Female infertility due to zona pellucida defect	GPathogenic
Select item 812693	NM_207341.4(ZP1):c.1168del (p.Ile390fs)	ZP1 (I390fs +1 more)	Deletion (frameshift variant +1 more)	Female infertility due to zona pellucida defect	GLikely pathogenic
Select item 689406	NM_207341.4(ZP1):c.1775-8T>C	ZP1	Single nucleotide variant (intron variant)	Female infertility due to zona pellucida defect	GPathogenic
Select item 689405	NM_207341.4(ZP1):c.1430+1G>T	ZP1	Single nucleotide variant (splice donor variant)	Female infertility due to zona pellucida defect	GPathogenic
Select item 689404	NM_207341.4(ZP1):c.1708G>A (p.Val570Met)	ZP1 (V570M +2 more)	Single nucleotide variant (missense variant)	Female infertility due to zona pellucida defect	GPathogenic
Select item 127200	NM_207341.4(ZP1):c.1169_1176del (p.Ile390fs)	ZP1 (I390fs +1 more)	Deletion (frameshift variant +1 more)	Female infertility due to zona pellucida defect	GPathogenic

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