"Revvity Omics, Revvity"[submitter] AND "PRKN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 963190	NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)	PRKN (C292R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 7050	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	PRKN (R275W +2 more)	Single nucleotide variant (missense variant)	See cases +7 more	GPathogenic
Select item 846957	NM_004562.3(PRKN):c.337_376del (p.Pro113fs)	PRKN (P113fs)	Deletion (frameshift variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GPathogenic/Likely pathogenic
Select item 857451	NM_004562.3(PRKN):c.310C>T (p.Arg104Trp)	PRKN (R104W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GUncertain significance
Select item 2435249	NM_004562.3(PRKN):c.44T>C (p.Val15Ala)	PRKN (V15A)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 805243	NM_004562.3(PRKN):c.2T>C (p.Met1Thr)	PACRG, PRKN (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar