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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAF1
(L613V +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
RAF1
(T491I +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GPathogenic
RAF1
(D486N +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome with multiple lentigines
Gnot provided
RAF1
(S257L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
BRAF
(L245F +4 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
BRAF
(T241P +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+7 more
GPathogenic/Likely pathogenic
PTPN11
(Y279C +1 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+12 more
GPathogenic/Likely pathogenic
PTPN11
(A461T +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+5 more
GConflicting classifications of pathogenicity
PTPN11
(G464A +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+7 more
GPathogenic
PTPN11
(T468M +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(R498W +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+10 more
GPathogenic
PTPN11
(R498L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+11 more
GPathogenic
PTPN11
(Q506P +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+6 more
GPathogenic
PTPN11
(Q510E +2 more)
Single nucleotide variant
(missense variant)
PTPN11 Related Disorders
+8 more
GPathogenic
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