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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZP3
(V208A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZP3
(V2fs +1 more)
Duplication
(frameshift variant +1 more)
Oocyte maturation defect 3
GLikely pathogenic
ZP3
Microsatellite
(intron variant)
Oocyte maturation defect 3
+1 more
GBenign/Likely benign
ZP1
(Q257*)
Single nucleotide variant
(nonsense)
Oocyte maturation defect 3
GPathogenic
ZP3
(R255G +1 more)
Single nucleotide variant
(missense variant)
Oocyte maturation defect 3
GPathogenic
ZP3
(A134T +1 more)
Single nucleotide variant
(missense variant)
Empty follicle syndrome
+1 more
GPathogenic
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