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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(T2I)
Single nucleotide variant
(missense variant)
RASopathy
+7 more
GPathogenic/Likely pathogenic
PTPN11
(N58K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GPathogenic
PTPN11
(G60V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GPathogenic/Likely pathogenic
PTPN11
(Y63C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(I282V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+11 more
GPathogenic
PTPN11
(N308D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(N308S +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+9 more
GPathogenic
PTPN11
(G503E +2 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+5 more
GPathogenic/Likely pathogenic
PTPN11
(M504V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
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