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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAF1
(S257L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
PTPN11
(G60S +1 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+8 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
(N308T +1 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+10 more
GPathogenic/Likely pathogenic
PTPN11
(R501K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GPathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+9 more
GPathogenic
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