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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KPNA7
Deletion
(frameshift variant)
Oocyte/zygote/embryo maturation arrest 17
GPathogenic
KPNA7
(P212L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KPNA7
(L203F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KPNA7
(Q175K)
Single nucleotide variant
(missense variant)
Oocyte/zygote/embryo maturation arrest 17
GPathogenic
KPNA7
(V152M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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