C4551506[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 654532	NM_015488.5(PNKD):c.293G>T (p.Arg98Leu)	CATIP-AS2, PNKD (R74L +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 468628	NM_015488.5(PNKD):c.301C>T (p.Arg101Trp)	PNKD, CATIP-AS2 (R101W +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +1 more	GConflicting classifications of pathogenicity
Select item 334313	NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)	CATIP-AS2, PNKD (T111A +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1062866	NM_015488.5(PNKD):c.465+3G>A	CATIP-AS2, PNKD	Single nucleotide variant (intron variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1149077	NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp)	CATIP-AS2, PNKD (R344W +1 more)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Infantile convulsions and choreoathetosis +12 more	GPathogenic/Likely pathogenic

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