S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 98

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:140743337
GRCh38:
Chr8:139731094
TRAPPC9not specified, Intellectual Disability, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr8:140743340
GRCh38:
Chr8:139731097
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Dec 16, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr8:140743361
GRCh38:
Chr8:139731118
TRAPPC9not specifiedLikely benign
(Nov 18, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr8:140743395
GRCh38:
Chr8:139731152
TRAPPC9not specifiedUncertain significance
(Jan 11, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr8:140743426
GRCh38:
Chr8:139731183
TRAPPC9not specifiedUncertain significance
(Dec 30, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr8:140743459
GRCh38:
Chr8:139731216
TRAPPC9not specifiedUncertain significance
(Sep 11, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr8:140744218
GRCh38:
Chr8:139731975
TRAPPC9not specified, Intellectual Disability, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr8:140744223
GRCh38:
Chr8:139731980
TRAPPC9not specifiedUncertain significance
(Dec 22, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr8:140744252
GRCh38:
Chr8:139732009
TRAPPC9not specified, Intellectual Disability, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr8:140744260
GRCh38:
Chr8:139732017
TRAPPC9not specifiedUncertain significance
(Jan 22, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr8:140744264
GRCh38:
Chr8:139732021
TRAPPC9not specifiedLikely benign
(May 5, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr8:140744276
GRCh38:
Chr8:139732033
TRAPPC9not specified, Intellectual Disability, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr8:140744290
GRCh38:
Chr8:139732047
TRAPPC9not specifiedUncertain significance
(Apr 21, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr8:140744326
GRCh38:
Chr8:139732083
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr8:140744333
GRCh38:
Chr8:139732090
TRAPPC9not specifiedLikely benign
(Sep 25, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr8:140744338
GRCh38:
Chr8:139732095
TRAPPC9not specified, Intellectual Disability, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr8:140744344
GRCh38:
Chr8:139732101
TRAPPC9not specifiedUncertain significance
(Jan 22, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr8:140744352
GRCh38:
Chr8:139732109
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr8:140744353
GRCh38:
Chr8:139732110
TRAPPC9not specifiedUncertain significance
(Jun 5, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr8:140744365
GRCh38:
Chr8:139732122
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr8:140744432
GRCh38:
Chr8:139732189
TRAPPC9not specifiedBenign
(Oct 15, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr8:140898166
GRCh38:
Chr8:139885922
TRAPPC9not specifiedUncertain significance
(Jul 23, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr8:140898197
GRCh38:
Chr8:139885953
TRAPPC9not specifiedLikely benign
(Jul 29, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr8:140922434
GRCh38:
Chr8:139910190
TRAPPC9not specifiedUncertain significance
(Jul 28, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr8:140922473
GRCh38:
Chr8:139910229
TRAPPC9not specifiedUncertain significance
(Feb 10, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr8:140998945
GRCh38:
Chr8:139988737
TRAPPC9not specified, Intellectual Disability, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr8:140998947
GRCh38:
Chr8:139988739
TRAPPC9not specified, not provided, Intellectual Disability, Recessive
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr8:140998948
GRCh38:
Chr8:139988740
TRAPPC9not specified, Intellectual Disability, RecessiveConflicting interpretations of pathogenicity
(Dec 16, 2016)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr8:141034052
GRCh38:
Chr8:140023955
TRAPPC9not specifiedUncertain significance
(Jun 22, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr8:141034071
GRCh38:
Chr8:140023974
TRAPPC9not specifiedUncertain significance
(Jun 28, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr8:141034136
GRCh38:
Chr8:140024039
TRAPPC9not specifiedUncertain significance
(Dec 7, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr8:141231574
GRCh38:
Chr8:140221475
TRAPPC9not providedUncertain significance
(Jun 5, 2013)
criteria provided, single submitter
33.
GRCh37:
Chr8:141231641
GRCh38:
Chr8:140221542
TRAPPC9not providedUncertain significance
(Mar 13, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr8:141262869
GRCh38:
Chr8:140252770
TRAPPC9not specified, Intellectual Disability, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr8:141262946
GRCh38:
Chr8:140252847
TRAPPC9not specifiedLikely benign
(Jul 22, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr8:141262966
GRCh38:
Chr8:140252867
TRAPPC9not specifiedUncertain significance
(Apr 25, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr8:141263015
GRCh38:
Chr8:140252916
TRAPPC9not specified, Intellectual Disability, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr8:141285777
GRCh38:
Chr8:140275678
TRAPPC9not specifiedUncertain significance
(Feb 19, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr8:141294065
GRCh38:
Chr8:140283966
TRAPPC9not specifiedUncertain significance
(Mar 19, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr8:141297708
GRCh38:
Chr8:140287609
TRAPPC9not specifiedLikely benign
(Feb 22, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr8:141297740
GRCh38:
Chr8:140287641
TRAPPC9not specifiedUncertain significance
(Nov 22, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr8:141297790
GRCh38:
Chr8:140287691
TRAPPC9not specifiedUncertain significance
(Aug 8, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr8:141297819
GRCh38:
Chr8:140287720
TRAPPC9not specified, Intellectual Disability, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr8:141301137
GRCh38:
Chr8:140291038
TRAPPC9not provided, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr8:141310561
GRCh38:
Chr8:140300462
TRAPPC9not providedUncertain significance
(Feb 14, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr8:141310591
GRCh38:
Chr8:140300492
TRAPPC9not specifiedUncertain significance
(Dec 7, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr8:141310643
GRCh38:
Chr8:140300544
TRAPPC9not specifiedLikely benign
(Jan 8, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr8:141310644
GRCh38:
Chr8:140300545
TRAPPC9not specified, Intellectual Disability, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr8:141310658
GRCh38:
Chr8:140300559
TRAPPC9not specifiedLikely benign
(Jan 8, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr8:141321366
GRCh38:
Chr8:140311267
TRAPPC9not specifiedUncertain significance
(Jul 23, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr8:141321405
GRCh38:
Chr8:140311306
TRAPPC9not specifiedUncertain significance
(Mar 4, 2015)
criteria provided, single submitter
52.
GRCh37:
Chr8:141370186
GRCh38:
Chr8:140360087
TRAPPC9not specified, Intellectual Disability, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr8:141370224
GRCh38:
Chr8:140360125
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr8:141370237
GRCh38:
Chr8:140360138
TRAPPC9not specified, Intellectual Disability, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr8:141370259
GRCh38:
Chr8:140360160
TRAPPC9not specifiedUncertain significance
(Apr 4, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr8:141370287
GRCh38:
Chr8:140360188
TRAPPC9not specifiedUncertain significance
(Dec 21, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr8:141381088
GRCh38:
Chr8:140370989
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr8:141381120
GRCh38:
Chr8:140371021
TRAPPC9not specifiedUncertain significance
(Apr 14, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr8:141381151
GRCh38:
Chr8:140371052
TRAPPC9not specifiedLikely benign
(Sep 14, 2015)
criteria provided, single submitter
60.
GRCh37:
Chr8:141381169
GRCh38:
Chr8:140371070
TRAPPC9not specifiedLikely benign
(May 17, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr8:141381220
GRCh38:
Chr8:140371121
TRAPPC9not providedUncertain significance
(Apr 1, 2013)
criteria provided, single submitter
62.
GRCh37:
Chr8:141381237
GRCh38:
Chr8:140371138
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr8:141381250
GRCh38:
Chr8:140371151
TRAPPC9not specified, Intellectual Disability, RecessiveConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr8:141407775
GRCh38:
Chr8:140397676
TRAPPC9not specifiedUncertain significance
(Dec 15, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr8:141407834
GRCh38:
Chr8:140397735
TRAPPC9not specified, not provided, Intellectual Disability, Recessive
Uncertain significance
(Feb 22, 2017)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr8:141415704
GRCh38:
Chr8:140405605
TRAPPC9not providedUncertain significance
(Feb 14, 2014)
criteria provided, single submitter
67.
GRCh37:
Chr8:141445217
GRCh38:
Chr8:140435118
TRAPPC9not specified, not providedUncertain significance
(May 11, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr8:141449194
GRCh38:
Chr8:140439095
TRAPPC9not specifiedLikely benign
(Nov 17, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr8:141449228
GRCh38:
Chr8:140439129
TRAPPC9not specifiedUncertain significance
(Jul 23, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr8:141449293
GRCh38:
Chr8:140439194
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr8:141460889
GRCh38:
Chr8:140450790
TRAPPC9not specifiedUncertain significance
(Feb 11, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr8:141460918
GRCh38:
Chr8:140450819
TRAPPC9not specified, Intellectual Disability, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr8:141460930
GRCh38:
Chr8:140450831
TRAPPC9not specifiedLikely benign
(Nov 22, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr8:141460942
GRCh38:
Chr8:140450843
TRAPPC9Mental retardation, autosomal recessive 13Pathogenic
(Apr 15, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr8:141461017
GRCh38:
Chr8:140450918
TRAPPC9not specifiedLikely benignno assertion criteria provided
76.
GRCh37:
Chr8:141461059
GRCh38:
Chr8:140450960
TRAPPC9not specified, Intellectual Disability, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr8:141461062
GRCh38:
Chr8:140450963
TRAPPC9not specified, Intellectual Disability, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr8:141461074
GRCh38:
Chr8:140450975
TRAPPC9not specified, Intellectual Disability, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr8:141461089
GRCh38:
Chr8:140450990
TRAPPC9not specifiedLikely benign
(Sep 26, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr8:141461100-141461103
GRCh38:
Chr8:140451001-140451004
TRAPPC9Mental retardation, autosomal recessive 13Pathogenic
(Sep 28, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr8:141461106
GRCh38:
Chr8:140451007
TRAPPC9Mental retardation, autosomal recessive 13, not providedPathogenic
(May 7, 2015)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr8:141461116
GRCh38:
Chr8:140451017
TRAPPC9not specified, Intellectual Disability, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr8:141461182
GRCh38:
Chr8:140451083
TRAPPC9not specifiedUncertain significance
(Apr 10, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr8:141461185
GRCh38:
Chr8:140451086
TRAPPC9not specified, Intellectual Disability, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr8:141461204
GRCh38:
Chr8:140451105
TRAPPC9not specifiedUncertain significance
(May 13, 2015)
criteria provided, single submitter
86.
GRCh37:
Chr8:141461210
GRCh38:
Chr8:140451111
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr8:141461266
GRCh38:
Chr8:140451167
TRAPPC9not specified, Intellectual Disability, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr8:141461314
GRCh38:
Chr8:140451215
TRAPPC9not specifiedUncertain significance
(Dec 12, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr8:141461333
GRCh38:
Chr8:140451234
TRAPPC9not specified, Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr8:141461391
GRCh38:
Chr8:140451292
TRAPPC9not specifiedUncertain significance
(Aug 31, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr8:141461429
GRCh38:
Chr8:140451330
TRAPPC9not specifiedUncertain significance
(Jun 17, 2015)
criteria provided, single submitter
92.
GRCh37:
Chr8:141461447
GRCh38:
Chr8:140451348
TRAPPC9not specifiedUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr8:141468370
GRCh38:
Chr8:140458271
TRAPPC9not specified, Intellectual Disability, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr8:141468374
GRCh38:
Chr8:140458275
TRAPPC9not specifiedLikely benign
(Nov 17, 2015)
criteria provided, single submitter
95.
GRCh37:
Chr8:141468442
GRCh38:
Chr8:140458343
TRAPPC9not specifiedLikely benign
(Jul 24, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr8:141468504
GRCh38:
Chr8:140458405
TRAPPC9not specified, Intellectual Disability, RecessiveBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr8:141468572
GRCh38:
Chr8:140458473
TRAPPC9not specifiedUncertain significance
(Mar 24, 2015)
criteria provided, single submitter
98.
GRCh37:
Chr8:141468613
GRCh38:
Chr8:140458514
TRAPPC9not specifiedLikely benign
(Apr 5, 2017)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center