ClinVar for MedGen (Select 339628) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 836

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067878	NM_198578.4(LRRK2):c.5012G>A (p.Ser1671Asn)	LRRK2 (S1671N)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 3022403	NM_198578.4(LRRK2):c.4555G>T (p.Val1519Phe)	LRRK2 (V1519F)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 3016962	NM_198578.4(LRRK2):c.7496A>G (p.Asn2499Ser)	LRRK2 (N2499S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 3016383	NM_198578.4(LRRK2):c.1568A>T (p.Asp523Val)	LRRK2 (D523V)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 3015794	NM_198578.4(LRRK2):c.2842C>G (p.Arg948Gly)	LRRK2 (R948G)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 3013475	NM_198578.4(LRRK2):c.1497A>C (p.Pro499=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 3007719	NM_198578.4(LRRK2):c.4317+4A>T	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 3007026	NM_198578.4(LRRK2):c.6533A>G (p.Gln2178Arg)	LRRK2 (Q2178R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 3006364	NM_198578.4(LRRK2):c.63C>A (p.Val21=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 2997630	NM_198578.4(LRRK2):c.2689+20del	LRRK2	Deletion (intron variant)	Autosomal dominant Parkinson disease 8	GBenign
Select item 2995256	NM_198578.4(LRRK2):c.2356A>T (p.Ile786Phe)	LRRK2 (I786F)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2978951	NM_198578.4(LRRK2):c.2873C>T (p.Ser958Leu)	LRRK2 (S958L)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2970995	NM_198578.4(LRRK2):c.7337G>A (p.Arg2446His)	LRRK2 (R2446H)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GConflicting classifications of pathogenicity
Select item 2964365	NM_198578.4(LRRK2):c.2811G>A (p.Gly937=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 2962655	NM_198578.4(LRRK2):c.6711C>G (p.Thr2237=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2961314	NM_198578.4(LRRK2):c.2879-1G>C	LRRK2	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2958286	NM_198578.4(LRRK2):c.4828-17T>C	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2954620	NM_198578.4(LRRK2):c.4174G>A (p.Val1392Met)	LRRK2 (V1392M)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2916830	NM_198578.4(LRRK2):c.347+13G>A	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2915475	NM_198578.4(LRRK2):c.6938A>G (p.Asn2313Ser)	LRRK2 (N2313S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2901664	NM_198578.4(LRRK2):c.6843+12A>G	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2894280	NM_198578.4(LRRK2):c.6206C>G (p.Thr2069Ser)	LRRK2 (T2069S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2887162	NM_198578.4(LRRK2):c.5875C>A (p.Leu1959Ile)	LRRK2 (L1959I)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2885742	NM_198578.4(LRRK2):c.2262T>A (p.Ser754Arg)	LRRK2 (S754R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2882210	NM_198578.4(LRRK2):c.5338G>T (p.Val1780Phe)	LRRK2 (V1780F)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2879175	NM_198578.4(LRRK2):c.3490T>G (p.Phe1164Val)	LRRK2 (F1164V)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2877859	NM_198578.4(LRRK2):c.7463-8T>C	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2873954	NM_198578.4(LRRK2):c.1207C>G (p.Leu403Val)	LRRK2 (L403V)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2870482	NM_198578.4(LRRK2):c.1616A>G (p.Lys539Arg)	LRRK2 (K539R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2868367	NM_198578.4(LRRK2):c.6280+14T>C	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2859797	NM_198578.4(LRRK2):c.347+16A>G	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2857905	NM_198578.4(LRRK2):c.775G>T (p.Ala259Ser)	LRRK2 (A259S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2856914	NM_198578.4(LRRK2):c.6844-15_6844-14insC	LRRK2	Insertion (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2856723	NM_198578.4(LRRK2):c.1450G>T (p.Val484Phe)	LRRK2 (V484F)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2854915	NM_198578.4(LRRK2):c.7029-3T>G	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2851478	NM_198578.4(LRRK2):c.1288+12G>A	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2851349	NM_198578.4(LRRK2):c.7182G>A (p.Arg2394=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2847604	NM_198578.4(LRRK2):c.1102-15del	LRRK2	Deletion (intron variant)	Autosomal dominant Parkinson disease 8	GBenign
Select item 2845455	NM_198578.4(LRRK2):c.2241+1G>A	LRRK2	Single nucleotide variant (splice donor variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2844993	NM_198578.4(LRRK2):c.21G>T (p.Gln7His)	LRRK2 (Q7H)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2842260	NM_198578.4(LRRK2):c.7376T>C (p.Met2459Thr)	LRRK2 (M2459T)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2833987	NM_198578.4(LRRK2):c.5457_5458inv (p.Glu1820Lys)	LRRK2 (E1820K)	Inversion (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2831587	NM_198578.4(LRRK2):c.4613G>A (p.Arg1538His)	LRRK2 (R1538H)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2822126	NM_198578.4(LRRK2):c.5857G>C (p.Gly1953Arg)	LRRK2 (G1953R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2813195	NM_198578.4(LRRK2):c.6707A>T (p.His2236Leu)	LRRK2 (H2236L)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2803536	NM_198578.4(LRRK2):c.546A>T (p.Lys182Asn)	LRRK2 (K182N)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2782983	NM_198578.4(LRRK2):c.6047C>T (p.Ala2016Val)	LRRK2 (A2016V)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2782860	NM_198578.4(LRRK2):c.7029-4G>T	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
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 2768426	NM_198578.4(LRRK2):c.1851G>A (p.Lys617=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2768409	NM_198578.4(LRRK2):c.2165G>A (p.Ser722Asn)	LRRK2 (S722N)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2768052	NM_198578.4(LRRK2):c.3596G>A (p.Arg1199Gln)	LRRK2 (R1199Q)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 2764308	NM_198578.4(LRRK2):c.4322G>C (p.Arg1441Pro)	LRRK2 (R1441P)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2762890	NM_198578.4(LRRK2):c.181_198del (p.His61_Ile66del)	LRRK2	Deletion (inframe_deletion)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2751859	NM_198578.4(LRRK2):c.1941+5G>A	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2748502	NM_198578.4(LRRK2):c.2698G>A (p.Gly900Ser)	LRRK2 (G900S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2747048	NM_198578.4(LRRK2):c.7043C>G (p.Ala2348Gly)	LRRK2 (A2348G)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2744783	NM_198578.4(LRRK2):c.1656+12A>G	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2741743	NM_198578.4(LRRK2):c.972C>T (p.Phe324=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2739804	NM_198578.4(LRRK2):c.4537-17C>A	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2737871	NM_198578.4(LRRK2):c.2127A>C (p.Lys709Asn)	LRRK2 (K709N)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2737496	NM_198578.4(LRRK2):c.3014G>A (p.Cys1005Tyr)	LRRK2 (C1005Y)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2728069	NM_198578.4(LRRK2):c.571+18del	LRRK2	Deletion (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2727895	NM_198578.4(LRRK2):c.4615A>G (p.Lys1539Glu)	LRRK2 (K1539E)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2724720	NM_198578.4(LRRK2):c.5020_5023del (p.Ser1674fs)	LRRK2 (S1674fs)	Deletion (frameshift variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2723709	NM_198578.4(LRRK2):c.6463A>G (p.Met2155Val)	LRRK2 (M2155V)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2723217	NM_198578.4(LRRK2):c.5173C>A (p.Arg1725=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2720850	NM_198578.4(LRRK2):c.6843+8T>C	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2717979	NM_198578.4(LRRK2):c.3590A>G (p.His1197Arg)	LRRK2 (H1197R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2708375	NM_198578.4(LRRK2):c.6771-15del	LRRK2	Deletion (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2708374	NM_198578.4(LRRK2):c.6336A>G (p.Lys2112=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2704272	NM_198578.4(LRRK2):c.867C>A (p.Asn289Lys)	LRRK2 (N289K)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2701709	NM_198578.4(LRRK2):c.6281-18T>A	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2671644	NM_198578.4(LRRK2):c.6771C>A (p.Ser2257Arg)	LRRK2 (S2257R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2585152	NM_198578.4(LRRK2):c.5237C>A (p.Ala1746Asp)	LRRK2 (A1746D)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2581016	NM_198578.4(LRRK2):c.4613G>T (p.Arg1538Leu)	LRRK2 (R1538L)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2573066	NM_198578.4(LRRK2):c.4188A>G (p.Ala1396=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2567336	NM_198578.4(LRRK2):c.5697A>G (p.Glu1899=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 2562413	NM_198578.4(LRRK2):c.1409T>C (p.Phe470Ser)	LRRK2 (F470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2561230	NM_198578.4(LRRK2):c.2600A>T (p.Asp867Val)	LRRK2 (D867V)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 2561229	NM_198578.4(LRRK2):c.3973C>A (p.Arg1325=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 2499353	NM_198578.4(LRRK2):c.751A>G (p.Asn251Asp)	LRRK2 (N251D)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 2489715	NM_198578.4(LRRK2):c.1361A>G (p.His454Arg)	LRRK2 (H454R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 2489685	NM_198578.4(LRRK2):c.724C>T (p.Leu242Phe)	LRRK2 (L242F)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 2489484	NM_198578.4(LRRK2):c.4519G>A (p.Glu1507Lys)	LRRK2 (E1507K)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 2447270	NM_198578.4(LRRK2):c.596T>G (p.Phe199Cys)	LRRK2 (F199C)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 2422104	NM_198578.4(LRRK2):c.3316G>C (p.Val1106Leu)	LRRK2 (V1106L)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2421491	NM_198578.4(LRRK2):c.1373T>C (p.Val458Ala)	LRRK2 (V458A)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2415855	NM_198578.4(LRRK2):c.3589C>T (p.His1197Tyr)	LRRK2 (H1197Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2202122	NM_198578.4(LRRK2):c.6109+6del	LRRK2	Deletion (intron variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2202075	NM_198578.4(LRRK2):c.2070+3A>C	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2199645	NM_198578.4(LRRK2):c.1078C>T (p.His360Tyr)	LRRK2 (H360Y)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 2199249	NM_198578.4(LRRK2):c.707-15T>A	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2199172	NM_198578.4(LRRK2):c.2774G>A (p.Cys925Tyr)	LRRK2 (C925Y)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2197188	NM_198578.4(LRRK2):c.5240A>G (p.Tyr1747Cys)	LRRK2 (Y1747C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2195427	NM_198578.4(LRRK2):c.706+10A>C	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2183144	NM_198578.4(LRRK2):c.1941+15T>C	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2180814	NM_198578.4(LRRK2):c.4739-4A>G	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2179571	NM_198578.4(LRRK2):c.2373A>G (p.Leu791=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 2174023	NM_198578.4(LRRK2):c.22G>A (p.Gly8Arg)	LRRK2 (G8R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance

<< First< Prev

Page of 9