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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(Y63C +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
(N308D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(N308S +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+10 more
GPathogenic
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+9 more
GPathogenic
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