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Links from OMIM

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MOS
(C320*)
Single nucleotide variant
(nonsense)
Oocyte/zygote/embryo maturation arrest 20
GPathogenic
MOS
(M139T)
Single nucleotide variant
(missense variant)
Oocyte/zygote/embryo maturation arrest 20
GPathogenic
MOS
(N95K)
Single nucleotide variant
(missense variant)
Oocyte/zygote/embryo maturation arrest 20
GPathogenic
KRAS
(Y71H)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 2
GPathogenic
MAP2K1
(F53S)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
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