ClinVar for OMIM (Select 619208) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997852	NM_022121.5(PERP):c.459C>A (p.Tyr153Ter)	PERP (Y153*)	Single nucleotide variant (nonsense)	Olmsted syndrome 2	GPathogenic
Select item 997850	NM_022121.5(PERP):c.459C>G (p.Tyr153Ter)	PERP (Y153*)	Single nucleotide variant (nonsense)	Olmsted syndrome 2	GPathogenic
Select item 997849	NM_022121.5(PERP):c.452G>A (p.Trp151Ter)	PERP (W151*)	Single nucleotide variant (nonsense)	Olmsted syndrome 2	GPathogenic
Select item 997848	NM_022121.5(PERP):c.453G>A (p.Trp151Ter)	PERP (W151*)	Single nucleotide variant (nonsense)	Olmsted syndrome 2	GPathogenic

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