ClinVar Miner

Variants with conflicting interpretations studied for Parkinson disease 8, autosomal dominant

Coded as:
Minimum review status of the submission for Parkinson disease 8, autosomal dominant: Y axis collection method of the submission for Parkinson disease 8, autosomal dominant:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
179 5 18 12 29 1 3 52

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Parkinson disease 8, autosomal dominant pathogenic uncertain significance likely benign benign risk factor
pathogenic 7 0 3 0 1
uncertain significance 0 11 22 15 0
likely benign 3 22 0 12 1
benign 0 10 7 0 0
risk factor 1 0 1 0 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Parkinson disease 8, autosomal dominant 187 1 14 7 28 1 3 48
not provided 0 4 6 8 9 0 0 14
not specified 0 0 0 0 2 0 0 2
Inborn genetic diseases 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_198578.3(LRRK2):c.1000G>A (p.Glu334Lys) rs78501232
NM_198578.3(LRRK2):c.1182-4A>G rs7135747
NM_198578.3(LRRK2):c.149A>G (p.His50Arg) rs2256408
NM_198578.3(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720
NM_198578.3(LRRK2):c.2022A>C (p.Val674=) rs72546319
NM_198578.3(LRRK2):c.2167A>G (p.Ile723Val) rs10878307
NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987
NM_198578.3(LRRK2):c.2378G>T (p.Arg793Met) rs35173587
NM_198578.3(LRRK2):c.2428A>G (p.Ile810Val) rs72546337
NM_198578.3(LRRK2):c.2481T>C (p.Ser827=) rs76890302
NM_198578.3(LRRK2):c.2769G>C (p.Gln923His) rs58559150
NM_198578.3(LRRK2):c.2857T>C (p.Leu953=) rs7966550
NM_198578.3(LRRK2):c.3018A>G (p.Ile1006Met) rs113217062
NM_198578.3(LRRK2):c.3333G>T (p.Gln1111His) rs78365431
NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val) rs34805604
NM_198578.3(LRRK2):c.344A>C (p.His115Pro) rs201439315
NM_198578.3(LRRK2):c.3451G>A (p.Ala1151Thr) rs74985840
NM_198578.3(LRRK2):c.3497-8delT rs201739149
NM_198578.3(LRRK2):c.356T>C (p.Leu119Pro) rs33995463
NM_198578.3(LRRK2):c.3683G>C (p.Ser1228Thr) rs60185966
NM_198578.3(LRRK2):c.3778-9C>T rs114948984
NM_198578.3(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338
NM_198578.3(LRRK2):c.4111A>G (p.Ile1371Val) rs17466213
NM_198578.3(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198578.3(LRRK2):c.4229C>T (p.Thr1410Met) rs72546327
NM_198578.3(LRRK2):c.4269G>A (p.Lys1423=) rs11175964
NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) rs33939927
NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927
NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His) rs34995376
NM_198578.3(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033
NM_198578.3(LRRK2):c.457T>C (p.Leu153=) rs10878245
NM_198578.3(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906
NM_198578.3(LRRK2):c.4872C>A (p.Gly1624=) rs1427263
NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_198578.3(LRRK2):c.4911A>G (p.Lys1637=) rs11176013
NM_198578.3(LRRK2):c.4937T>C (p.Met1646Thr) rs35303786
NM_198578.3(LRRK2):c.4939T>A (p.Ser1647Thr) rs11564148
NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys) rs35801418
NM_198578.3(LRRK2):c.5163A>G (p.Ser1721=) rs79909111
NM_198578.3(LRRK2):c.5457T>C (p.Gly1819=) rs10878371
NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr) rs35870237
NM_198578.3(LRRK2):c.6187_6191delCTCTA (p.Leu2063Terfs) rs111739194
NM_198578.3(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883
NM_198578.3(LRRK2):c.6324G>A (p.Glu2108=) rs10878405
NM_198578.3(LRRK2):c.632C>T (p.Ala211Val) rs112794616
NM_198578.3(LRRK2):c.6801C>T (p.Thr2267=) rs148143226
NM_198578.3(LRRK2):c.683G>C (p.Cys228Ser) rs56108242
NM_198578.3(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348
NM_198578.3(LRRK2):c.7155A>G (p.Gly2385=) rs33962975
NM_198578.3(LRRK2):c.867C>T (p.Asn289=) rs17490713
NM_198578.3(LRRK2):c.936G>T (p.Ala312=) rs41286466

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