"LRRK2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034084	NM_198578.4(LRRK2):c.193T>C (p.Leu65=)	LRRK2	Single nucleotide variant (synonymous variant)	LRRK2-related disorder	GLikely benign
Select item 1912498	NM_198578.4(LRRK2):c.446C>G (p.Thr149Ser)	LRRK2 (T149S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 804996	NM_198578.4(LRRK2):c.825T>C (p.His275=)	LRRK2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1599852	NM_198578.4(LRRK2):c.834A>G (p.Thr278=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3061375	NM_198578.4(LRRK2):c.852T>C (p.Asn284=)	LRRK2	Single nucleotide variant (synonymous variant)	LRRK2-related disorder	GLikely benign
Select item 1778374	NM_198578.4(LRRK2):c.1055C>T (p.Ala352Val)	LRRK2 (A352V)	Single nucleotide variant (missense variant)	LRRK2-related disorder +1 more	GUncertain significance
Select item 39131	NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val)	LRRK2 (A419V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 695715	NM_198578.4(LRRK2):c.1383T>C (p.Ser461=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 3054667	NM_198578.4(LRRK2):c.2076A>C (p.Leu692=)	LRRK2	Single nucleotide variant (synonymous variant)	LRRK2-related disorder	GLikely benign
Select item 1786678	NM_198578.4(LRRK2):c.2148G>A (p.Ala716=)	LRRK2	Single nucleotide variant (synonymous variant)	LRRK2-related disorder +2 more	GLikely benign
Select item 2629267	NM_198578.4(LRRK2):c.2189T>C (p.Leu730Pro)	LRRK2 (L730P)	Single nucleotide variant (missense variant)	LRRK2-related disorder	GUncertain significance
Select item 1792727	NM_198578.4(LRRK2):c.2533A>G (p.Arg845Gly)	LRRK2 (R845G)	Single nucleotide variant (missense variant)	LRRK2-related disorder +1 more	GUncertain significance
Select item 465215	NM_198578.4(LRRK2):c.2701_2702delinsCT (p.Ser901Leu)	LRRK2 (S901L)	Indel (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 1799195	NM_198578.4(LRRK2):c.3045G>A (p.Lys1015=)	LRRK2	Single nucleotide variant (synonymous variant)	LRRK2-related disorder +1 more	GLikely benign
Select item 39164	NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=)	LRRK2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 767350	NM_198578.4(LRRK2):c.3496+9T>G	LRRK2	Single nucleotide variant (intron variant)	LRRK2-related disorder +1 more	GBenign/Likely benign
Select item 308626	NM_198578.4(LRRK2):c.3497-8del	LRRK2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 39173	NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala)	LRRK2 (P1262A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 308632	NM_198578.4(LRRK2):c.3969A>G (p.Gln1323=)	LRRK2	Single nucleotide variant (synonymous variant)	LRRK2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3034714	NM_198578.4(LRRK2):c.3987T>C (p.Ala1329=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 39179	NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met)	LRRK2 (T1410M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 39182	NM_198578.4(LRRK2):c.4290C>T (p.Ala1430=)	LRRK2	Single nucleotide variant (synonymous variant)	LRRK2-related disorder +1 more	GLikely benign
Select item 844650	NM_198578.4(LRRK2):c.4327T>G (p.Ser1443Ala)	LRRK2 (S1443A)	Single nucleotide variant (missense variant)	LRRK2-related disorder +1 more	GUncertain significance
Select item 39186	NM_198578.4(LRRK2):c.4337C>T (p.Pro1446Leu)	LRRK2 (P1446L)	Single nucleotide variant (missense variant)	LRRK2-related disorder +1 more	GLikely benign
Select item 39191	NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln)	LRRK2 (R1514Q)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +2 more	GBenign/Likely benign
Select item 695696	NM_198578.4(LRRK2):c.4881G>A (p.Ser1627=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1744231	NM_198578.4(LRRK2):c.4936A>G (p.Met1646Val)	LRRK2 (M1646V)	Single nucleotide variant (missense variant)	LRRK2-related disorder +1 more	GUncertain significance
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 39203	NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=)	LRRK2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1595646	NM_198578.4(LRRK2):c.5178A>G (p.Ala1726=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 308639	NM_198578.4(LRRK2):c.5510-9A>G	LRRK2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1940	NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	LRRK2 (G2019S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +6 more	GPathogenic/Likely pathogenic; risk factor
Select item 2782568	NM_198578.4(LRRK2):c.6110-8A>G	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 1345066	NM_198578.4(LRRK2):c.6220G>A (p.Val2074Ile)	LRRK2 (V2074I)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 1757069	NM_198578.4(LRRK2):c.7089C>T (p.Leu2363=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +2 more	GLikely benign

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Items: 35