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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(T42A)
Single nucleotide variant
(missense variant)
Metachondromatosis
+8 more
GConflicting classifications of pathogenicity
PTPN11
(I56V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
PTPN11
(D61N +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+9 more
GPathogenic
PTPN11
(Y62D +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(Y63C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(E69Q +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(A72P +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PTPN11
(A72G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GPathogenic/Likely pathogenic
PTPN11
(E76K +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GConflicting classifications of pathogenicity
PTPN11
(E76V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GPathogenic
PTPN11
(E76D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+7 more
GPathogenic
PTPN11
(Q79R +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+10 more
GPathogenic
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(R265Q +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(G268S +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+7 more
GPathogenic/Likely pathogenic
PTPN11
(Y279C +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+12 more
GPathogenic/Likely pathogenic
PTPN11
(I282V +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+11 more
GPathogenic
PTPN11
(F285I +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PTPN11
(F285S +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+8 more
GPathogenic
PTPN11
(N298S +1 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+8 more
GConflicting classifications of pathogenicity
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
(A461S +2 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+3 more
GPathogenic
PTPN11
(T468M +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(P491T +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
PTPN11
(P491H +2 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+10 more
GPathogenic/Likely pathogenic
PTPN11
(S502T +2 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+6 more
GPathogenic
PTPN11
(M504V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q506P +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related disorder
+6 more
GPathogenic
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