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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2K2
(A272T)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+4 more
GConflicting classifications of pathogenicity
MAP2K2
(V202M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
MAP2K2
(S94L)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K2
(K61E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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