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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(T42A)
Single nucleotide variant
(missense variant)
Noonan syndrome
+8 more
GPathogenic
PTPN11
(T52I +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GLikely pathogenic
PTPN11
Insertion
(inframe_insertion)
Metachondromatosis
GLikely pathogenic
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