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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2K1
(P124T)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GUncertain significance
MAP2K1
(Y130C)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic