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Items: 60

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
(F82L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+7 more
GPathogenic/Likely pathogenic
RIT1
(A57G +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GPathogenic
RIT1
(S35T +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 8
+3 more
GPathogenic
PPP1CB
(P49R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
SOS1
(Y702H +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+3 more
GPathogenic
SOS1
(R552S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
SOS1
(R552K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(R552T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(R552G +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(S548R +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(I437T +1 more)
Single nucleotide variant
(missense variant)
Male subfertility
+7 more
GPathogenic/Likely pathogenic
SOS1
(G434R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+12 more
GPathogenic/Likely pathogenic
SOS1
(M269T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
RAF1
(R391M +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GConflicting classifications of pathogenicity
RAF1
(V263G +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GLikely pathogenic
RAF1
(P261A +3 more)
Single nucleotide variant
(missense variant +1 more)
RAF1-related condition
+7 more
GPathogenic/Likely pathogenic
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
RAF1
(S257P +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GLikely pathogenic
RAF1
(H175R +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RAF1
(F151S +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
BRAF
(A712D +7 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 3
+9 more
GConflicting classifications of pathogenicity
BRAF
(Q262P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+2 more
GPathogenic/Likely pathogenic
BRAF
(A246P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
(T241M +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+9 more
GPathogenic/Likely pathogenic
SHOC2
(S2G)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 1
GPathogenic
CBL
(C840S)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
KRAS
(D153G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
KRAS
(D153V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome
GPathogenic
KRAS
(G60R)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
KRAS
(I36M)
Single nucleotide variant
(missense variant)
KRAS-related condition
+6 more
GPathogenic/Likely pathogenic
PTPN11
(T42A)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+8 more
GPathogenic
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)
Noonan syndrome 3
+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
(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)
Noonan syndrome and Noonan-related syndrome
+9 more
GPathogenic/Likely pathogenic
PTPN11
(E76K +1 more)
Single nucleotide variant
(missense variant)
PTPN11 Related Disorders
+3 more
GConflicting classifications of pathogenicity
PTPN11
(E76D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+7 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
(R265Q +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(G268S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 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
(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
(P491T +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
PTPN11
(P491H +2 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GPathogenic/Likely pathogenic
PTPN11
(S502T +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+7 more
GPathogenic
PTPN11
(M504V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q506P +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
MAP2K2
(E207K)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
DMPK
(M1T)
Single nucleotide variant
(missense variant +2 more)
Noonan syndrome
GUncertain significance
RRAS
(P21S)
Single nucleotide variant
(missense variant)
Noonan syndrome
+1 more
GUncertain significance
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