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Items: 15

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:175375388
GRCh38:
Chr1:175406252
TNRParkinson disease, age at onset, susceptibility to, Parkinson diseaseUncertain significance
(Jan 1, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr1:175375355
GRCh38:
Chr1:175406219
TNRParkinson disease, age at onset, susceptibility to, Parkinson diseaseUncertain significance
(Jan 1, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:175372714
GRCh38:
Chr1:175403578
TNRParkinson disease, age at onset, susceptibility to, Parkinson diseaseUncertain significance
(Jan 1, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:175355213
GRCh38:
Chr1:175386077
TNRParkinson disease, age at onset, susceptibility to, Parkinson diseaseUncertain significance
(Jan 1, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:175355171
GRCh38:
Chr1:175386035
TNRParkinson disease, age at onset, susceptibility to, Parkinson diseaseUncertain significance
(Jan 1, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr3:195605390
GRCh38:
Chr3:195878519
TNK2Parkinson disease, age at onset, susceptibility to, Parkinson diseaseUncertain significance
(Jan 1, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr3:195594494
GRCh38:
Chr3:195867623
TNK2Parkinson disease, age at onset, susceptibility to, not specified, Parkinson disease
Conflicting interpretations of pathogenicity
(Jan 1, 2016)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr3:195594092
GRCh38:
Chr3:195867221
TNK2Parkinson disease, age at onset, susceptibility to, Parkinson diseaseUncertain significance
(Jan 1, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr15:62239491
GRCh38:
Chr15:61947292
VPS13CParkinson disease, age at onset, susceptibility to, Parkinson disease, Parkinson disease 23, autosomal recessive early-onset
Pathogenic
(Mar 18, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr15:62250807
GRCh38:
Chr15:61958608
VPS13CParkinson disease, age at onset, susceptibility to, Parkinson disease, Parkinson disease 23, autosomal recessive early-onset
Pathogenic
(Mar 18, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr15:62174851
GRCh38:
Chr15:61882652
VPS13CParkinson disease, age at onset, susceptibility to, Parkinson disease, Parkinson disease 23, autosomal recessive early-onset
Pathogenic
(Mar 18, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr15:62305256-62305257
GRCh38:
Chr15:62013057-62013058
VPS13CParkinson disease, age at onset, susceptibility to, Parkinson diseasePathogenic
(Nov 16, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr15:62207830
GRCh38:
Chr15:61915631
VPS13CParkinson disease, age at onset, susceptibility to, Parkinson disease, Parkinson disease 23, autosomal recessive early-onset
Pathogenic
(Mar 18, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr3:195595212
GRCh38:
Chr3:195868341
TNK2Parkinson disease, age at onset, susceptibility to, Autosomal recessive infantile epilepsy, Parkinson disease
Uncertain significance
(Jan 1, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr11:27679916
GRCh38:
Chr11:27658369
BDNF, BDNF-ASBulimia nervosa 2, Anorexia nervosa 2, Bipolar affective disorder, susceptibility to,
Memory impairment, susceptibility to, Obsessive-compulsive disorder, protection against, Parkinson disease, age at onset, susceptibility to,
not specified, Parkinson disease
Benign, protective, risk factor
(Jun 2, 2017)
criteria provided, multiple submitters, no conflicts
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