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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(A57G +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+7 more
GPathogenic
SOS1
(A708T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
SHOC2
(E25G)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GConflicting classifications of pathogenicity
PTPN11
(L261F +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(T468M +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
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