ClinVar for MedGen (Select 36387) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929484	NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu)	AMOTL1 (P110L +1 more)	Single nucleotide variant (missense variant)	Hypertelorism +6 more	GConflicting classifications of pathogenicity
Select item 13980	NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)	BRAF (G534R +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +2 more	GPathogenic/Likely pathogenic