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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2K2
(V400L)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+1 more
GConflicting classifications of pathogenicity
MAP2K2
(K61N)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+2 more
GPathogenic/Likely pathogenic
MAP2K2
(A56D)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
GLikely pathogenic
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