ClinVar (all) for Orgtrack (Select 507913) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992918	NM_203446.3(SYNJ1):c.577T>C (p.Tyr193His)	SYNJ1 (Y193H +1 more)	Single nucleotide variant (missense variant)	Early-onset Parkinson disease 20	GUncertain significance
Select item 992917	NM_203446.3(SYNJ1):c.2254del (p.Asp752fs)	SYNJ1 (D747fs +2 more)	Deletion (frameshift variant)	Early-onset Parkinson disease 20	GLikely pathogenic