"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169383	NM_198578.4(LRRK2):c.149G>A (p.Arg50His)	LRRK2 (R50H)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GBenign
Select item 39192	NM_198578.4(LRRK2):c.457T>C (p.Leu153=)	LRRK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 308613	NM_198578.4(LRRK2):c.1102-10C>A	LRRK2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 39139	NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)	LRRK2 (N551K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 308617	NM_198578.4(LRRK2):c.2501-9dup	LRRK2	Duplication (intron variant)	not provided +2 more	GBenign
Select item 308619	NM_198578.4(LRRK2):c.2689+20dup	LRRK2	Duplication (intron variant)	Autosomal dominant Parkinson disease 8	GBenign/Likely benign
Select item 39156	NM_198578.4(LRRK2):c.2857T>C (p.Leu953=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GBenign
Select item 39178	NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His)	LRRK2 (R1398H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 39181	NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=)	LRRK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 308633	NM_198578.4(LRRK2):c.4317+12del	LRRK2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 39193	NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser)	LRRK2 (P1542S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 39197	NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=)	LRRK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 39199	NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=)	LRRK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 39200	NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr)	LRRK2 (M1646T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 39201	NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr)	LRRK2 (S1647T)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GBenign
Select item 39209	NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=)	LRRK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1940	NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	LRRK2 (G2019S)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic; risk factor
Select item 39221	NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp)	LRRK2 (N2081D)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GBenign/Likely benign
Select item 39222	NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=)	LRRK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1174992	NM_198578.4(LRRK2):c.6844-8dup	LRRK2	Duplication (intron variant)	Autosomal dominant Parkinson disease 8 +1 more	GBenign
Select item 1174905	NM_198578.4(LRRK2):c.7029-9del	LRRK2	Deletion (intron variant)	Autosomal dominant Parkinson disease 8 +1 more	GBenign
Select item 39234	NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GBenign/Likely benign
Select item 308647	NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr)	LRRK2 (M2397T)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GBenign

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Items: 23