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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(N18S)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
PTPN11
(A50T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
PTPN11
(K131R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
PTPN11
(R152H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
PTPN11
(E532K +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
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