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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2K1
(H119Y)
Single nucleotide variant
(missense variant)
MAP2K1-related rasopathy-like syndrome
+2 more
GConflicting classifications of pathogenicity
MAP2K1
(Y130N)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GPathogenic