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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2K1
(Q243H)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GUncertain significance
MAP2K1
(P321S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
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