"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PRRT2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163582	NM_145239.3(PRRT2):c.281A>T (p.Glu94Val)	MVP-DT, PRRT2 (E94V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Seizure +13 more	GPathogenic/Likely pathogenic
Select item 1163583	NM_145239.3(PRRT2):c.963_978delinsTA (p.Val322fs)	MVP-DT, PRRT2 (V322fs)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic

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