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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WEE2, WEE2-AS1
(Y163H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Oocyte maturation defect 5
GUncertain significance
WEE2, WEE2-AS1
(R200*)
Single nucleotide variant
(nonsense)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
Single nucleotide variant
(synonymous variant)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
(R410W)
Single nucleotide variant
(missense variant)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
(E75fs)
Microsatellite
(frameshift variant)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
(T493fs)
Duplication
(frameshift variant)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
(D234H)
Single nucleotide variant
(missense variant)
Oocyte maturation defect 5
GPathogenic
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