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Items: 44

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:29825260
GRCh38:
Chr16:29813939
PRRT2Dystonia 10, not specifiedConflicting interpretations of pathogenicity
(Jul 24, 2017)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr16:29825120
GRCh38:
Chr16:29813799
PRRT2Dystonia 10Uncertain significance
(Feb 24, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr16:29825109
GRCh38:
Chr16:29813788
PRRT2Dystonia 10Uncertain significance
(Jun 11, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr16:29824441
GRCh38:
Chr16:29813120
PRRT2Dystonia 10, not specifiedConflicting interpretations of pathogenicity
(Jun 27, 2017)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr16:29825024
GRCh38:
Chr16:29813703
PRRT2Dystonia 10Pathogenic
(Jun 29, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr16:29825017
GRCh38:
Chr16:29813696
PRRT2Dystonia 10Likely benign
(Jun 29, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr16:29824743
GRCh38:
Chr16:29813422
PRRT2Dystonia 10Uncertain significance
(May 24, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr16:29824739
GRCh38:
Chr16:29813418
PRRT2Dystonia 10Likely benign
(Mar 31, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr16:29824668
GRCh38:
Chr16:29813347
PRRT2Dystonia 10Uncertain significance
(Jul 28, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr16:29824356-29825979
PRRT2Dystonia 10Uncertain significance
(Jul 19, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr16:29824356-29825979
GRCh38:
Chr16:29813035-29814658
PRRT2Dystonia 10Pathogenic
(Aug 11, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr16:29824806
GRCh38:
Chr16:29813485
PRRT2Dystonia 10, not specifiedUncertain significance
(Aug 21, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr16:29825733
GRCh38:
Chr16:29814412
PRRT2Seizures, benign familial infantile, 2, Dystonia 10Pathogeniccriteria provided, single submitter
14.
GRCh37:
Chr16:29824311-29827202
GRCh38:
Chr16:29812990-29815881
PRRT2Dystonia 10Uncertain significance
(Jul 19, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr16:29825697
GRCh38:
Chr16:29814376
PRRT2Dystonia 10Uncertain significance
(Aug 18, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr16:29825010
GRCh38:
Chr16:29813689
PRRT2Dystonia 10Uncertain significance
(Nov 19, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr16:29825706
GRCh38:
Chr16:29814385
PRRT2Dystonia 10Uncertain significance
(Dec 11, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr16:29824830
GRCh38:
Chr16:29813509
PRRT2Dystonia 10, not specifiedUncertain significance
(Dec 5, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr16:29825148
GRCh38:
Chr16:29813827
PRRT2Dystonia 10, not specifiedBenign/Likely benign
(Jun 14, 2017)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr16:29824939
GRCh38:
Chr16:29813618
PRRT2Dystonia 10, not specifiedBenign
(Jun 13, 2017)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:29825094
GRCh38:
Chr16:29813773
PRRT2Dystonia 10Uncertain significance
(May 23, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr16:29825745
GRCh38:
Chr16:29814424
PRRT2Dystonia 10, not providedLikely pathogenic
(May 16, 2017)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr16:29825022
GRCh38:
Chr16:29813701
PRRT2Dystonia 10, not specifiedLikely benign
(May 8, 2017)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr16:29825019
GRCh38:
Chr16:29813698
PRRT2Dystonia 10, not specifiedLikely benign
(Oct 3, 2017)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr16:29825015
GRCh38:
Chr16:29813694
PRRT2Dystonia 10, not specifiedConflicting interpretations of pathogenicity
(Oct 6, 2017)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr16:29824389
GRCh38:
Chr16:29813068
PRRT2Dystonia 10Uncertain significance
(Jan 14, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr16:29824508
GRCh38:
Chr16:29813187
PRRT2Dystonia 10, not specified, not provided
Likely benign
(Aug 15, 2017)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr16:29825949
GRCh38:
Chr16:29814628
PRRT2Dystonia 10, not specifiedConflicting interpretations of pathogenicity
(Nov 3, 2017)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr16:29825126
GRCh38:
Chr16:29813805
PRRT2Dystonia 10, not specifiedBenign
(Aug 14, 2017)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr16:29824987
GRCh38:
Chr16:29813666
PRRT2Dystonia 10, not specifiedBenign/Likely benign
(Apr 13, 2017)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr16:29824814
GRCh38:
Chr16:29813493
PRRT2Dystonia 10, not specifiedBenign
(May 23, 2017)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr16:29824442
GRCh38:
Chr16:29813121
PRRT2Dystonia 10, not specified, not provided
Conflicting interpretations of pathogenicity
(Dec 1, 2017)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr16:29824787
GRCh38:
Chr16:29813466
PRRT2Dystonia 10, not specified, not provided
Benign/Likely benign
(Aug 1, 2017)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr16:29825022
GRCh38:
Chr16:29813701
PRRT2Dystonia 10, not specified, not provided
Benign/Likely benign
(Aug 2, 2017)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr16:29825024
GRCh38:
Chr16:29813703
PRRT2Seizures, benign familial infantile, 2, Dystonia 10, Infantile convulsions and paroxysmal choreoathetosis, familial,
Seizures, not provided
Pathogenic/Likely pathogenic
(Jan 1, 2018)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr16:29825022
GRCh38:
Chr16:29813701
PRRT2Dystonia 10, not specifiedConflicting interpretations of pathogenicity
(Jun 20, 2016)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr16:29824885
GRCh38:
Chr16:29813564
PRRT2Dystonia 10Pathogenic
(Jun 27, 2013)
no assertion criteria provided
38.
GRCh37:
Chr16:29825123
GRCh38:
Chr16:29813802
PRRT2Seizures, benign familial infantile, 2, Dystonia 10Pathogenic
(May 1, 2012)
no assertion criteria provided
39.
GRCh37:
Chr16:29825024
GRCh38:
Chr16:29813703
PRRT2Seizures, benign familial infantile, 2, Dystonia 10, Infantile convulsions and paroxysmal choreoathetosis, familial,
not provided
Pathogenic
(Jul 5, 2017)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr16:29825171
GRCh38:
Chr16:29813850
PRRT2Dystonia 10Pathogenic
(Dec 1, 2011)
no assertion criteria provided
41.
GRCh37:
Chr16:29824862
GRCh38:
Chr16:29813541
PRRT2Dystonia 10, Infantile convulsions and paroxysmal choreoathetosis, familialPathogenic
(Dec 1, 2011)
no assertion criteria provided
42.
GRCh37:
Chr16:29825746
GRCh38:
Chr16:29814425
PRRT2Dystonia 10Pathogenic
(Nov 20, 2011)
no assertion criteria provided
43.
GRCh37:
Chr16:29824889-29824892
GRCh38:
Chr16:29813568-29813571
PRRT2Dystonia 10Pathogenic
(Nov 20, 2011)
no assertion criteria provided
44.
PRRT2Seizures, benign familial infantile, 2, Dystonia 10, Infantile convulsions and paroxysmal choreoathetosis, familial
Pathogenic
(Oct 1, 2012)
no assertion criteria provided
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