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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK1
(P188R +2 more)
Single nucleotide variant
(missense variant +1 more)
Oocyte/zygote/embryo maturation arrest 21
GUncertain significance
CHEK1
(R319K +1 more)
Single nucleotide variant
(missense variant +2 more)
Oocyte/zygote/embryo maturation arrest 21
GPathogenic
CHEK1
(R341Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Oocyte/zygote/embryo maturation arrest 21
GPathogenic
CHEK1
(R341fs +2 more)
Deletion
(frameshift variant +2 more)
Oocyte/zygote/embryo maturation arrest 21
GPathogenic
CHEK1
(R278Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Oocyte/zygote/embryo maturation arrest 21
GPathogenic
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