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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
PTPN11
Single nucleotide variant
(synonymous variant)
PTPN11-related condition
+4 more
GConflicting classifications of pathogenicity
PTPN11
(N58H +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+3 more
GPathogenic
PTPN11
(T59A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PTPN11
(G60C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
PTPN11
(D61G +1 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+11 more
GPathogenic
PTPN11
(Y62D +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(Y63C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(E69Q +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(F71L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PTPN11
(A72V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PTPN11
(M82V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
PTPN11
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
PTPN11
(E139D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
Single nucleotide variant
(intron variant)
RASopathy
GBenign
PTPN11
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GUncertain significance
PTPN11
(R265Q +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q269R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTPN11
(Y279C +1 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+12 more
GPathogenic/Likely pathogenic
PTPN11
(I282V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+12 more
GPathogenic
PTPN11
(F285L +1 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+9 more
GPathogenic
PTPN11
Single nucleotide variant
(intron variant)
RASopathy
GBenign
PTPN11
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PTPN11
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
PTPN11
(F285S +1 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+7 more
GPathogenic
PTPN11
(N308D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(N308S +1 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+10 more
GPathogenic
PTPN11
(I309V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
PTPN11
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PTPN11
(R351Q +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
PTPN11
Single nucleotide variant
(intron variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GBenign
PTPN11
(V382I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
PTPN11
(H443Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
PTPN11
(G464A +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+7 more
GPathogenic
PTPN11
(T468M +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome with multiple lentigines
GPathogenic
PTPN11
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
PTPN11
(G503R +2 more)
Single nucleotide variant
(missense variant)
PTPN11-related condition
+9 more
GPathogenic
PTPN11
(G503E +2 more)
Single nucleotide variant
(missense variant)
LEOPARD syndrome 1
+5 more
GPathogenic/Likely pathogenic
PTPN11
(M504V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
PTPN11
(Q510E +2 more)
Single nucleotide variant
(missense variant)
PTPN11 Related Disorders
+8 more
GPathogenic
PTPN11
(Q510H +2 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
PTPN11
(T553M +2 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
PTPN11
Single nucleotide variant
(synonymous variant)
PTPN11-related condition
+3 more
GConflicting classifications of pathogenicity
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