Related gene-specific medical variations for Gene (Select 5317) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361404	NM_001005337.3(PKP1):c.1342G>A (p.Asp448Asn)	PKP1 (D448N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495106	NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter)	PKP1 (Q281*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex due to plakophilin deficiency	GLikely pathogenic
Select item 100807	NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu)	PKP1 (P400L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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