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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(N58D +1 more)
Single nucleotide variant
(missense variant)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
+10 more
GPathogenic
PTPN11
(Y63C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(E76K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PTPN11
(Q79R +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+10 more
GPathogenic
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(G268C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic/Likely pathogenic
PTPN11
(F285S +1 more)
Single nucleotide variant
(missense variant)
Non-immune hydrops fetalis
+8 more
GPathogenic
PTPN11
(N308S +1 more)
Single nucleotide variant
(missense variant)
Metachondromatosis
+9 more
GPathogenic
PTPN11
(M504V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q506P +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic
PTPN11
(Q510E +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic
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