ClinVar for MedGen (Select 36387) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from MedGen

	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)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic