"Mendelics"[submitter] AND "LRRK2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39223	NM_198578.4(LRRK2):c.632C>T (p.Ala211Val)	LRRK2 (A211V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 39128	NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)	LRRK2 (E334K)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +2 more	GConflicting classifications of pathogenicity
Select item 39149	NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)	LRRK2 (R793M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1620419	NM_198578.4(LRRK2):c.2697A>C (p.Glu899Asp)	LRRK2 (E899D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 39176	NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val)	LRRK2 (I1371V)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 546702	NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)	LRRK2 (R1628H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 39198	NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)	LRRK2 (R1628P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 39213	NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)	LRRK2 (M1869T)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GConflicting classifications of pathogenicity
Select item 39216	NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His)	LRRK2 (R1941H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1940	NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	LRRK2 (G2019S)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease +6 more	GPathogenic/Likely pathogenic; risk factor
Select item 39229	NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)	LRRK2 (Y2189C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 39232	NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile)	LRRK2 (T2356I)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GConflicting classifications of pathogenicity
Select item 1943	NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)	LRRK2 (G2385R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity; risk factor