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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(Y62D +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(Y63C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(E69K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PTPN11
(Q79R +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+10 more
GPathogenic
PTPN11
(K91R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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)
Metachondromatosis
+9 more
GPathogenic
PTPN11
(T468M +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+8 more
GPathogenic
PTPN11
(M504V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q510E +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic
PTPN11
(Q510P +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
(P561L +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+7 more
GConflicting classifications of pathogenicity
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