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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMOTL1
(P110L +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
BRAF
(G534R +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
+2 more
GPathogenic/Likely pathogenic