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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2K1
(K57N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MAP2K1
(D67N)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
MAP2K1
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
MAP2K1
(Y130C)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
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