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Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS1
(S59R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
BRAF
(T156S +4 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K2
(G65S)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SOS1
(I729V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SHOC2
(G63R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAF1
(S234T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
RAF1
(N262H +3 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
MAP2K2
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MAP2K1
(R47Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SHOC2
(V142G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTPN11
(V382I +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+6 more
GUncertain significance
MAP2K2
(S127L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAP2K2
(K209N)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
SOS1
(I252T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SOS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GUncertain significance
SOS1
(D1108H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SOS1
(S1000N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
SOS1
(R982Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
BRAF
(G69A +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+1 more
GUncertain significance
MAP2K1
(A268T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRAF, LOC126860202
(P343S +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KRAS
(Y166H)
Single nucleotide variant
(missense variant +1 more)
KRAS-related condition
+2 more
GConflicting classifications of pathogenicity
SHOC2
(M173V)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair
+4 more
GConflicting classifications of pathogenicity
BRAF
(R146Q +2 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+7 more
GConflicting classifications of pathogenicity
PTPN11
(N58S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MAP2K2
(R297Q)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+2 more
GUncertain significance
SOS1
(T451R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
RAF1
(V98A)
Single nucleotide variant
(missense variant +2 more)
RASopathy
+2 more
GUncertain significance
SOS1
(D1108N +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
SOS1
(T549K +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SOS1
(I1138V +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SHOC2
(M173I)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SOS1
(V574I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
RAF1
(P261L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
+4 more
GPathogenic/Likely pathogenic
PTPN11
(G60V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GPathogenic/Likely pathogenic
PTPN11
(K70R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
MAP2K1
(L42F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SOS1
(D1243E +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GConflicting classifications of pathogenicity
SOS1
Single nucleotide variant
(splice acceptor variant +1 more)
Cardiovascular phenotype
+7 more
GUncertain significance
SOS1
(R552K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(G434R +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+12 more
GPathogenic/Likely pathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+9 more
GPathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+9 more
GPathogenic
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(D106A +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GPathogenic
PTPN11
(E76D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GPathogenic
PTPN11
(D61N +1 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic
PTPN11
(D61H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
PTPN11
(N58K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GPathogenic
PTPN11
(I56V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
BRAF
(T244P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
BRAF
Microsatellite
(inframe_deletion)
BRAF-related condition
+3 more
GConflicting classifications of pathogenicity
BRAF
(G469E +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
RAF1
(S257L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
PTPN11
(T2I)
Single nucleotide variant
(missense variant)
RASopathy
+7 more
GPathogenic/Likely pathogenic
PTPN11
(A461T +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+5 more
GConflicting classifications of pathogenicity
PTPN11
(Y63C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Y62D +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(N308D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
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