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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(A77T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+3 more
GPathogenic/Likely pathogenic
SOS1
(R552K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(S548R +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(T266K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+4 more
GPathogenic
RAF1
(P261T +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+2 more
GPathogenic/Likely pathogenic
RAF1
(S257L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
BRAF
(D638E +7 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 3
+7 more
GPathogenic/Likely pathogenic
BRAF
(W531C +7 more)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GPathogenic
BRAF
(G469E +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(Q257R +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(T241M +4 more)
Single nucleotide variant
(missense variant)
RASopathy
+9 more
GPathogenic/Likely pathogenic
BRAF
(R146Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Lung carcinoma
+7 more
GConflicting classifications of pathogenicity
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
KRAS
(D153V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome
GPathogenic
PTPN11
(T42A)
Single nucleotide variant
(missense variant)
Metachondromatosis
+8 more
GConflicting classifications of pathogenicity
PTPN11
(L43V)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GUncertain significance
PTPN11
(N58D +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+10 more
GPathogenic
PTPN11
(G60V +1 more)
Single nucleotide variant
(missense variant)
See cases
+5 more
GPathogenic/Likely pathogenic
PTPN11
(D61N +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+9 more
GPathogenic
PTPN11
(D61G +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+10 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
(E69V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+4 more
GPathogenic/Likely pathogenic
PTPN11
(F70L +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+2 more
GLikely pathogenic
PTPN11
(A72S +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+7 more
GPathogenic
PTPN11
(A72G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GPathogenic/Likely pathogenic
PTPN11
(T73I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic
PTPN11
(E76D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+7 more
GPathogenic
PTPN11
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
PTPN11
(D106A +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GPathogenic
PTPN11
(E110A +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+5 more
GPathogenic/Likely pathogenic
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
(G268C +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic/Likely pathogenic
PTPN11
(Y279C +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+12 more
GPathogenic/Likely pathogenic
PTPN11
(F285L +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+8 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
(N308S +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+9 more
GPathogenic
PTPN11
(T468M +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(P491S +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
PTPN11
(P491L +2 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+8 more
GPathogenic
PTPN11
(R498W +2 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+9 more
GPathogenic
PTPN11
(S502T +2 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+6 more
GPathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+8 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
PTPN11
(T507K +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PTPN11
(Q510E +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related disorder
+8 more
GPathogenic
PTPN11
(Q510H +2 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
MAP2K1
(Y130C)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
LZTR1
(R283Q)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GPathogenic/Likely pathogenic
LZTR1
(R435W)
Single nucleotide variant
(missense variant)
Noonan syndrome 10
+5 more
GUncertain significance
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