"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061956	NM_201384.3(PLEC):c.4141C>T (p.Gln1381Ter)	PLEC (Q1349* +6 more)	Single nucleotide variant (nonsense +1 more)	Epidermolysis bullosa simplex with nail dystrophy	GLikely pathogenic
Select item 3064483	NM_201384.3(PLEC):c.2171A>G (p.Tyr724Cys)	PLEC (Y692C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy	GUncertain significance