"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 478358	NM_203446.3(SYNJ1):c.*552G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +2 more	GLikely benign
Select item 586762	NM_203446.3(SYNJ1):c.186_187insAATACT	SYNJ1	Insertion (inframe_insertion +2 more)	Early-onset Parkinson disease 20 +2 more	GBenign
Select item 586761	NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=)	SYNJ1	Single nucleotide variant (synonymous variant)	Early-onset Parkinson disease 20 +2 more	GBenign
Select item 478345	NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)	SYNJ1 (T1236M +3 more)	Single nucleotide variant (missense variant)	Early-onset Parkinson disease 20 +3 more	GLikely benign
Select item 1209924	NM_203446.3(SYNJ1):c.3588+14C>T	SYNJ1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 586760	NM_203446.3(SYNJ1):c.3518-7G>T	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +2 more	GBenign
Select item 478341	NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)	SYNJ1	Single nucleotide variant (synonymous variant)	Early-onset Parkinson disease 20 +4 more	GBenign/Likely benign
Select item 478333	NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=)	SYNJ1	Single nucleotide variant (synonymous variant)	Early-onset Parkinson disease 20 +2 more	GLikely benign
Select item 573462	NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr)	SYNJ1 (D791Y +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1168202	NM_203446.3(SYNJ1):c.1201-3A>T	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +2 more	GBenign
Select item 586758	NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg)	SYNJ1 (K334R +1 more)	Single nucleotide variant (missense variant)	Early-onset Parkinson disease 20 +2 more	GBenign