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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2K1, SNAPC5
Microsatellite
(3 prime UTR variant +2 more)
RASopathy
GBenign
MAP2K1, SNAPC5
(S377F +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Noonan syndrome and Noonan-related syndrome
+1 more
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GBenign
MAP2K1, SNAPC5
(G380S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Noonan syndrome and Noonan-related syndrome
+1 more
GUncertain significance
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