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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(G27D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTPN11
(D61Y +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+2 more
GConflicting classifications of pathogenicity
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
(F71L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PTPN11
(A72G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GPathogenic/Likely pathogenic
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
(G163S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
PTPN11
Single nucleotide variant
(synonymous variant)
LEOPARD syndrome 1
+6 more
GUncertain significance
PTPN11
(I282V +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+11 more
GPathogenic
PTPN11
(F285S +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+8 more
GPathogenic
PTPN11
(N308D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(N308T +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+9 more
GPathogenic/Likely pathogenic
PTPN11
(A392T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GConflicting classifications of pathogenicity
PTPN11
(T411M +2 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
PTPN11
(G464A +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+6 more
GPathogenic
PTPN11
(R498W +2 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+9 more
GPathogenic
PTPN11
(R501K +2 more)
Single nucleotide variant
(missense variant)
Epicanthus
+11 more
GPathogenic/Likely pathogenic
PTPN11
(S502A +2 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+3 more
GPathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+8 more
GPathogenic
PTPN11
(M504V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(R527C +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
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