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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(G95A +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+6 more
GPathogenic
RIT1
(T83P +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
RIT1
(A77S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RIT1
(A57G +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GPathogenic
SOS1
(R552T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(M269T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
RAF1
(S257L +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Noonan syndrome
GPathogenic
BRAF
(N581D +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(F247L +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
KRAS
(P34L)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(T2I)
Single nucleotide variant
(missense variant)
RASopathy
+7 more
GPathogenic/Likely pathogenic
PTPN11
(N58D +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+11 more
GPathogenic
PTPN11
(G60A +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
PTPN11
(D61N +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 3
+10 more
GPathogenic
PTPN11
(Y62N +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+1 more
GLikely pathogenic
PTPN11
(Y62D +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(Y63C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(K70R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(T73P +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GPathogenic/Likely pathogenic
PTPN11
(T73I +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic
PTPN11
(Q79R +1 more)
Single nucleotide variant
(missense variant)
not provided
+11 more
GPathogenic
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(I220M +1 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+2 more
GPathogenic/Likely pathogenic
PTPN11
(Y279C +1 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GPathogenic/Likely pathogenic
PTPN11
(I282V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+11 more
GPathogenic
PTPN11
(F285L +1 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic
PTPN11
(F285S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GPathogenic
PTPN11
(N308D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(N308S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+10 more
GPathogenic
PTPN11
(T468M +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(P491L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+8 more
GPathogenic/Likely pathogenic
PTPN11
(R498W +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
+10 more
GPathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+9 more
GPathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GPathogenic
PTPN11
(G503E +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
PTPN11
(M504V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q510R +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GPathogenic/Likely pathogenic
PTPN11
(Q510P +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
MAP2K1
(Y130C)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
LZTR1
(R283Q)
Single nucleotide variant
(missense variant)
RASopathy
+5 more
GConflicting classifications of pathogenicity
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