LRRK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 58210	GRCh38/hg38 12q12(chr12:39651727-41240339)x3	CNTN1, LINC01779 +25 more	Copy number gain	See cases	GUncertain significance
Select item 1297877	NC_000012.12:g.40224884T>C	LINC01779, LOC130007688 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1196141	NC_000012.12:g.40224903G>A	LINC01779, LOC130007688 +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 369016	NM_198578.4(LRRK2):c.-124G>C	LRRK2, LOC130007688	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 883497	NM_198578.4(LRRK2):c.-91C>T	LOC130007688, LRRK2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 881128	NM_198578.4(LRRK2):c.-74C>A	LOC130007688, LRRK2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 308609	NM_198578.4(LRRK2):c.-44G>A	LOC130007688, LRRK2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 1768951	NM_198578.4(LRRK2):c.9T>C (p.Ser3=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2073898	NM_198578.4(LRRK2):c.17G>C (p.Cys6Ser)	LRRK2 (C6S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 1780373	NM_198578.4(LRRK2):c.17G>A (p.Cys6Tyr)	LRRK2 (C6Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453134	NM_198578.4(LRRK2):c.18T>C (p.Cys6=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 2174023	NM_198578.4(LRRK2):c.22G>A (p.Gly8Arg)	LRRK2 (G8R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 39157	NM_198578.4(LRRK2):c.28G>A (p.Glu10Lys)	LRRK2 (E10K)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 1798628	NM_198578.4(LRRK2):c.29A>C (p.Glu10Ala)	LRRK2 (E10A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453061	NM_198578.4(LRRK2):c.32A>C (p.Glu11Ala)	LRRK2 (E11A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1731039	NM_198578.4(LRRK2):c.33G>A (p.Glu11=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587314	NM_198578.4(LRRK2):c.36C>G (p.Asp12Glu)	LRRK2 (D12E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1736879	NM_198578.4(LRRK2):c.39G>C (p.Glu13Asp)	LRRK2 (E13D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1736874	NM_198578.4(LRRK2):c.39G>A (p.Glu13=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1622963	NM_198578.4(LRRK2):c.45T>C (p.Thr15=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1744655	NM_198578.4(LRRK2):c.49A>C (p.Lys17Gln)	LRRK2 (K17Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1746025	NM_198578.4(LRRK2):c.51G>A (p.Lys17=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1747957	NM_198578.4(LRRK2):c.54G>A (p.Lys18=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751588	NM_198578.4(LRRK2):c.60A>T (p.Ile20=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1751586	NM_198578.4(LRRK2):c.60A>G (p.Ile20Met)	LRRK2 (I20M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	GLikely benign
Select item 1754994	NM_198578.4(LRRK2):c.66G>T (p.Arg22Ser)	LRRK2 (R22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754989	NM_198578.4(LRRK2):c.66G>C (p.Arg22Ser)	LRRK2 (R22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1629454	NM_198578.4(LRRK2):c.66G>A (p.Arg22=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1755507	NM_198578.4(LRRK2):c.67C>T (p.Leu23=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 1937984	NM_198578.4(LRRK2):c.71A>G (p.Asn24Ser)	LRRK2 (N24S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2453063	NM_198578.4(LRRK2):c.74A>G (p.Asn25Ser)	LRRK2 (N25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738486	NM_198578.4(LRRK2):c.75T>C (p.Asn25=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 1760215	NM_198578.4(LRRK2):c.76G>A (p.Val26Ile)	LRRK2 (V26I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561244	NM_198578.4(LRRK2):c.87A>G (p.Gly29=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1473783	NM_198578.4(LRRK2):c.93_94del (p.Gln31fs)	LRRK2 (Q31fs)	Deletion (frameshift variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2129429	NM_198578.4(LRRK2):c.94A>T (p.Ile32Leu)	LRRK2 (I32L)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 1767871	NM_198578.4(LRRK2):c.96A>G (p.Ile32Met)	LRRK2 (I32M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624887	NM_198578.4(LRRK2):c.100A>T (p.Thr34Ser)	LRRK2 (T34S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 881129	NM_198578.4(LRRK2):c.102G>C (p.Thr34=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1773694	NM_198578.4(LRRK2):c.103C>T (p.Leu35=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1797163	NM_198578.4(LRRK2):c.111A>G (p.Gln37=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1727817	NM_198578.4(LRRK2):c.112A>G (p.Ile38Val)	LRRK2 (I38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749146	NM_198578.4(LRRK2):c.114C>A (p.Ile38=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8 +1 more	GLikely benign
Select item 1739299	NM_198578.4(LRRK2):c.116T>C (p.Leu39Pro)	LRRK2 (L39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1746791	NM_198578.4(LRRK2):c.119A>G (p.Glu40Gly)	LRRK2 (E40G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1765150	NM_198578.4(LRRK2):c.126G>T (p.Leu42=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769327	NM_198578.4(LRRK2):c.129G>C (p.Leu43=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769324	NM_198578.4(LRRK2):c.129G>A (p.Leu43=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769880	NM_198578.4(LRRK2):c.131T>C (p.Val44Ala)	LRRK2 (V44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770797	NM_198578.4(LRRK2):c.135C>T (p.Phe45=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1771008	NM_198578.4(LRRK2):c.136A>T (p.Thr46Ser)	LRRK2 (T46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1397201	NM_198578.4(LRRK2):c.137C>T (p.Thr46Met)	LRRK2 (T46M)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 1771519	NM_198578.4(LRRK2):c.138G>C (p.Thr46=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2567374	NM_198578.4(LRRK2):c.144C>T (p.Ser48=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773134	NM_198578.4(LRRK2):c.145G>C (p.Glu49Gln)	LRRK2 (E49Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 39134	NM_198578.3(LRRK2):c.149A>G (p.His50Arg)	LRRK2	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign
Select item 1621333	NM_198578.4(LRRK2):c.151+19A>G	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 1975518	NM_198578.4(LRRK2):c.151+20C>T	LRRK2	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 1268980	NM_198578.4(LRRK2):c.152-56G>A	LRRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274942	NM_198578.4(LRRK2):c.152-50G>A	LRRK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1774587	NM_198578.4(LRRK2):c.152C>A (p.Ala51Asp)	LRRK2 (A51D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453016	NM_198578.4(LRRK2):c.153C>G (p.Ala51=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 39136	NM_198578.4(LRRK2):c.155C>T (p.Ser52Phe)	LRRK2 (S52F)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	Gnot provided
Select item 1775876	NM_198578.4(LRRK2):c.158A>T (p.Lys53Met)	LRRK2 (K53M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1466715	NM_198578.4(LRRK2):c.158A>G (p.Lys53Arg)	LRRK2 (K53R)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 742777	NM_198578.4(LRRK2):c.160T>C (p.Leu54=)	LRRK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1778315	NM_198578.4(LRRK2):c.169G>A (p.Gly57Ser)	LRRK2 (G57S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779754	NM_198578.4(LRRK2):c.176A>G (p.Asn59Ser)	LRRK2 (N59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779971	NM_198578.4(LRRK2):c.177T>C (p.Asn59=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 533778	NM_198578.4(LRRK2):c.177T>A (p.Asn59Lys)	LRRK2 (N59K)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GConflicting classifications of pathogenicity
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 1810504	NM_198578.4(LRRK2):c.182A>G (p.His61Arg)	LRRK2 (H61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1781144	NM_198578.4(LRRK2):c.183T>C (p.His61=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1781484	NM_198578.4(LRRK2):c.185T>C (p.Val62Ala)	LRRK2 (V62A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1781663	NM_198578.4(LRRK2):c.186G>A (p.Val62=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1782046	NM_198578.4(LRRK2):c.188C>T (p.Pro63Leu)	LRRK2 (P63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506127	NM_198578.4(LRRK2):c.192_193del (p.Leu65fs)	LRRK2 (L65fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1782855	NM_198578.4(LRRK2):c.192G>C (p.Leu64=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3034084	NM_198578.4(LRRK2):c.193T>C (p.Leu65=)	LRRK2	Single nucleotide variant (synonymous variant)	LRRK2-related condition	GLikely benign
Select item 2624879	NM_198578.4(LRRK2):c.198C>G (p.Ile66Met)	LRRK2 (I66M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1784144	NM_198578.4(LRRK2):c.199G>T (p.Val67Phe)	LRRK2 (V67F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1784142	NM_198578.4(LRRK2):c.199G>C (p.Val67Leu)	LRRK2 (V67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1784390	NM_198578.4(LRRK2):c.200T>C (p.Val67Ala)	LRRK2 (V67A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1543027	NM_198578.4(LRRK2):c.201C>T (p.Val67=)	LRRK2	Single nucleotide variant (synonymous variant)	Autosomal dominant Parkinson disease 8	GLikely benign
Select item 2453137	NM_198578.4(LRRK2):c.209C>T (p.Ser70Phe)	LRRK2 (S70F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1786049	NM_198578.4(LRRK2):c.210C>G (p.Ser70=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1487608	NM_198578.4(LRRK2):c.212A>G (p.Tyr71Cys)	LRRK2 (Y71C)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 2073902	NM_198578.4(LRRK2):c.213T>A (p.Tyr71Ter)	LRRK2 (Y71*)	Single nucleotide variant (nonsense)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 1786703	NM_198578.4(LRRK2):c.214A>G (p.Met72Val)	LRRK2 (M72V)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +1 more	GUncertain significance
Select item 881130	NM_198578.4(LRRK2):c.215T>C (p.Met72Thr)	LRRK2 (M72T)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8	GUncertain significance
Select item 1787234	NM_198578.4(LRRK2):c.217A>G (p.Arg73Gly)	LRRK2 (R73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787402	NM_198578.4(LRRK2):c.218G>T (p.Arg73Ile)	LRRK2 (R73I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562439	NM_198578.4(LRRK2):c.221T>C (p.Val74Ala)	LRRK2 (V74A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788077	NM_198578.4(LRRK2):c.222C>T (p.Val74=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1788602	NM_198578.4(LRRK2):c.225G>T (p.Ala75=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 39147	NM_198578.4(LRRK2):c.225G>A (p.Ala75=)	LRRK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign

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