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Items: 31

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
(K23N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
SOS1
(R552K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(L550P +1 more)
Single nucleotide variant
(missense variant)
SOS1-related condition
+3 more
GPathogenic
RAF1
(P261S +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
RAF1
(S257L +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Noonan syndrome
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
PTPN11
(T2I)
Single nucleotide variant
(missense variant)
RASopathy
+7 more
GPathogenic/Likely pathogenic
PTPN11
(N58H +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+3 more
GPathogenic
PTPN11
(G60A +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 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
(Q79R +1 more)
Single nucleotide variant
(missense variant)
not provided
+11 more
GPathogenic
PTPN11
(E110A +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
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
(K401T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GUncertain significance
PTPN11
(V427L +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+2 more
GConflicting classifications of pathogenicity
PTPN11
(A461T +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+5 more
GConflicting classifications of pathogenicity
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
(R497Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
GLikely pathogenic
PTPN11
(R498L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+11 more
GPathogenic
PTPN11
(S502L +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+9 more
GPathogenic
PTPN11
(M504V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q510E +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
+8 more
GPathogenic
PTPN11
(Q510R +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GPathogenic/Likely pathogenic
PTPN11
(T566M +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
MAP2K1
(Y130C)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
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