"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SYNJ1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1147907	NM_203446.3(SYNJ1):c.*443G>A	SYNJ1 (S1405N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 640780	NM_203446.3(SYNJ1):c.2519C>T (p.Thr840Met)	SYNJ1 (T840M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 573462	NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr)	SYNJ1 (D791Y +2 more)	Single nucleotide variant (missense variant)	Early-onset Parkinson disease 20 +3 more	GUncertain significance
Select item 967394	NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val)	SYNJ1 (I297V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3380678	NM_203446.3(SYNJ1):c.548T>C (p.Met183Thr)	SYNJ1 (M183T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326691	NM_203446.3(SYNJ1):c.343C>T (p.Arg115Cys)	SYNJ1 (R115C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 53 +2 more	GUncertain significance
Select item 544571	NM_203446.3(SYNJ1):c.-67_-56del	SYNJ1	Deletion (inframe_deletion +2 more)	not provided +2 more	GUncertain significance

ClinVar