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Items: 1 to 100 of 498

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:65259548-84136510
GRCh38:
Chr6:64549655-83426791
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000154460
2.
GRCh37:
Chr6:71503845-72682483
GRCh38:
Chr6:70794142-71972780
B3GAT2, LINC00472, LINC01626, MIR30A, MIR30C2, OGFRL1, ORI343, RIMS1, SMAP1See casesUncertain significance
(Mar 18, 2014)
no assertion criteria providedVCV000154226
3.
GRCh37:
Chr6:71518894-72651412
GRCh38:
Chr6:70809191-71941709
B3GAT2, LINC00472, LINC01626, MIR30A, MIR30C2, OGFRL1, ORI343, RIMS1, SMAP1See casesUncertain significance
(Jan 24, 2011)
no assertion criteria providedVCV000146273
4.
GRCh37:
Chr6:72555205-72807895
GRCh38:
Chr6:71845502-72098192
RIMS1See casesPathogenic
(Oct 19, 2010)
no assertion criteria providedVCV000146598
5.
GRCh37:
Chr6:72596425
GRCh38:
Chr6:71886722
RIMS1Cone-rod dystrophy 7Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000357821
6.
GRCh37:
Chr6:72596478
GRCh38:
Chr6:71886775
RIMS1Cone-rod dystrophy 7Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357822
7.
GRCh37:
Chr6:72596543-72596544
GRCh38:
Chr6:71886840-71886841
RIMS1Cone-Rod Dystrophy, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000357823
8.
GRCh37:
Chr6:72596546
GRCh38:
Chr6:71886843
RIMS1Cone-rod dystrophy 7Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357824
9.
GRCh37:
Chr6:72596587
GRCh38:
Chr6:71886884
RIMS1Cone-rod dystrophy 7Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000357825
10.
GRCh37:
Chr6:72596600
GRCh38:
Chr6:71886897
RIMS1Cone-rod dystrophy 7Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357826
11.
GRCh37:
Chr6:72596606
GRCh38:
Chr6:71886903
RIMS1Cone-rod dystrophy 7Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000912252
12.
GRCh37:
Chr6:72596714
GRCh38:
Chr6:71887011
RIMS1Cone-rod dystrophy 7Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357827
13.
GRCh37:
Chr6:72596739
GRCh38:
Chr6:71887036
RIMS1V5Lnot providedLikely benign
(May 8, 2020)
criteria provided, single submitterVCV001152238
14.
GRCh37:
Chr6:72596739
GRCh38:
Chr6:71887036
RIMS1V5Lnot providedUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001056926
15.
GRCh37:
Chr6:72596754
GRCh38:
Chr6:71887051
RIMS1P10Snot provided, Cone-rod dystrophy 7Conflicting interpretations of pathogenicity
(Aug 6, 2020)
criteria provided, conflicting interpretationsVCV000357828
16.
GRCh37:
Chr6:72596755
GRCh38:
Chr6:71887052
RIMS1P10RCone-rod dystrophy 7Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000912253
17.
GRCh37:
Chr6:72596759
GRCh38:
Chr6:71887056
RIMS1not providedLikely benign
(Aug 20, 2020)
criteria provided, single submitterVCV001157746
18.
GRCh37:
Chr6:72596765
GRCh38:
Chr6:71887062
RIMS1Cone-rod dystrophy 7Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000912254
19.
GRCh37:
Chr6:72596771
GRCh38:
Chr6:71887068
RIMS1not providedLikely benign
(Aug 7, 2020)
criteria provided, single submitterVCV001080471
20.
GRCh37:
Chr6:72596778
GRCh38:
Chr6:71887075
RIMS1P18Tnot providedUncertain significance
(Mar 3, 2020)
criteria provided, single submitterVCV001000957
21.
GRCh37:
Chr6:72596780
GRCh38:
Chr6:71887077
RIMS1not providedLikely benign
(Jul 8, 2020)
criteria provided, single submitterVCV001149635
22.
GRCh37:
Chr6:72596796
GRCh38:
Chr6:71887093
RIMS1D24Nnot providedUncertain significance
(Feb 29, 2020)
criteria provided, single submitterVCV000935889
23.
GRCh37:
Chr6:72596798
GRCh38:
Chr6:71887095
RIMS1D24Enot providedUncertain significance
(Oct 31, 2019)
criteria provided, single submitterVCV000965183
24.
GRCh37:
Chr6:72596813
GRCh38:
Chr6:71887110
RIMS1not providedLikely benign
(Mar 11, 2020)
criteria provided, single submitterVCV001096160
25.
GRCh37:
Chr6:72596830
GRCh38:
Chr6:71887127
RIMS1I35Tnot providedUncertain significance
(Oct 4, 2019)
criteria provided, single submitterVCV000957864
26.
GRCh37:
Chr6:72596849
GRCh38:
Chr6:71887146
RIMS1not providedLikely benign
(Jul 3, 2020)
criteria provided, single submitterVCV001099568
27.
GRCh37:
Chr6:72596890
GRCh38:
Chr6:71887187
RIMS1K55MRetinal dystrophyUncertain significance
(Jan 24, 2019)
criteria provided, single submitterVCV000866276
28.
GRCh37:
Chr6:72671606-72978390
GRCh38:
Chr6:71961903-72268687
RIMS1See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000058794
29.
GRCh37:
Chr6:72678678
GRCh38:
Chr6:71968975
RIMS1not providedLikely benign
(Jul 10, 2018)
criteria provided, single submitterVCV000758785
30.
GRCh37:
Chr6:72678679
GRCh38:
Chr6:71968976
RIMS1not providedLikely benign
(Nov 13, 2020)
criteria provided, single submitterVCV001077269
31.
GRCh37:
Chr6:72678681
GRCh38:
Chr6:71968978
RIMS1not provided, Cone-rod dystrophy 7Benign
(Aug 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000357829
32.
GRCh37:
Chr6:72678690
GRCh38:
Chr6:71968987
RIMS1V57Lnot provided, Cone-rod dystrophy 7Conflicting interpretations of pathogenicity
(Oct 22, 2020)
criteria provided, conflicting interpretationsVCV000497703
33.
GRCh37:
Chr6:72678706
GRCh38:
Chr6:71969003
RIMS1A62Vnot providedUncertain significance
(Sep 23, 2020)
criteria provided, single submitterVCV001002509
34.
GRCh37:
Chr6:72678732
GRCh38:
Chr6:71969029
RIMS1not providedLikely benign
(May 6, 2020)
criteria provided, single submitterVCV001100213
35.
GRCh37:
Chr6:72678748
GRCh38:
Chr6:71969045
RIMS1Q76Lnot providedUncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV001001681
36.
GRCh37:
Chr6:72678759
GRCh38:
Chr6:71969056
RIMS1P80Snot providedUncertain significance
(Sep 3, 2019)
criteria provided, single submitterVCV000938228
37.
GRCh37:
Chr6:72806641
GRCh38:
Chr6:72096938
RIMS1not providedLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001146742
38.
GRCh37:
Chr6:72806654
GRCh38:
Chr6:72096951
RIMS1R56K, R83Knot providedLikely benign
(Feb 22, 2020)
criteria provided, single submitterVCV001098032
39.
GRCh37:
Chr6:72806661
GRCh38:
Chr6:72096958
RIMS1not providedLikely benign
(Oct 15, 2020)
criteria provided, single submitterVCV001145510
40.
GRCh37:
Chr6:72806662
GRCh38:
Chr6:72096959
RIMS1Q59E, Q86E, Q85Enot providedUncertain significance
(Oct 2, 2020)
criteria provided, single submitterVCV001040005
41.
GRCh37:
Chr6:72806714
GRCh38:
Chr6:72097011
RIMS1R102Q, R103Q, R76Qnot providedUncertain significance
(Oct 26, 2020)
criteria provided, single submitterVCV001016437
42.
GRCh37:
Chr6:72806782
GRCh38:
Chr6:72097079
RIMS1D126Y, D125Y, D99Ynot providedUncertain significance
(Jul 12, 2019)
criteria provided, single submitterVCV000960639
43.
GRCh37:
Chr6:72806808
GRCh38:
Chr6:72097105
RIMS1not providedLikely benign
(Aug 20, 2018)
criteria provided, single submitterVCV000765147
44.
GRCh37:
Chr6:72806828
GRCh38:
Chr6:72097125
RIMS1A114V, A140V, A141Vnot providedUncertain significance
(Aug 17, 2020)
criteria provided, single submitterVCV001022382
45.
GRCh37:
Chr6:72806829
GRCh38:
Chr6:72097126
RIMS1Cone-rod dystrophy 7, not providedLikely benign
(Feb 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000908248
46.
GRCh37:
Chr6:72806842
GRCh38:
Chr6:72097139
RIMS1R119C, R145C, R146Cnot providedUncertain significance
(Mar 16, 2020)
criteria provided, single submitterVCV000939356
47.
GRCh37:
Chr6:72806844
GRCh38:
Chr6:72097141
RIMS1not provided, Cone-rod dystrophy 7Benign
(Nov 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000357830
48.
GRCh37:
Chr6:72806849
GRCh38:
Chr6:72097146
RIMS1S121F, S148F, S147Fnot providedUncertain significance
(Oct 7, 2019)
criteria provided, single submitterVCV000955364
49.
GRCh37:
Chr6:72806864
GRCh38:
Chr6:72097161
RIMS1N126T, N153T, N152TCone-rod dystrophy 7, not providedBenign
(Nov 18, 2020)
criteria provided, multiple submitters, no conflictsVCV000908249
50.
GRCh37:
Chr6:72806865
GRCh38:
Chr6:72097162
RIMS1Cone-rod dystrophy 7, not providedUncertain significance
(Sep 12, 2020)
criteria provided, multiple submitters, no conflictsVCV000908250
51.
GRCh37:
Chr6:72806877
GRCh38:
Chr6:72097174
RIMS1Cone-rod dystrophy 7, not providedBenign
(Nov 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000908251
52.
GRCh37:
Chr6:72809641
GRCh38:
Chr6:72099938
RIMS1not providedBenign
(Sep 1, 2018)
criteria provided, single submitterVCV001272028
53.
GRCh37:
Chr6:72809678
GRCh38:
Chr6:72099975
RIMS1E127Q, E154Q, E153Qnot providedUncertain significance
(Nov 29, 2019)
criteria provided, single submitterVCV000839995
54.
GRCh37:
Chr6:72809681
GRCh38:
Chr6:72099978
RIMS1D128N, D154N, D155Nnot providedUncertain significance
(Jun 2, 2020)
criteria provided, single submitterVCV001024511
55.
GRCh37:
Chr6:72809786
GRCh38:
Chr6:72100083
RIMS1not providedLikely benign
(Sep 4, 2018)
criteria provided, single submitterVCV001318444
56.
GRCh37:
Chr6:72889337
GRCh38:
Chr6:72179634
RIMS1not providedLikely benign
(Oct 16, 2019)
criteria provided, single submitterVCV001111013
57.
GRCh37:
Chr6:72889367
GRCh38:
Chr6:72179664
RIMS1not providedLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV000739454
58.
GRCh37:
Chr6:72889389
GRCh38:
Chr6:72179686
RIMS1D195Nnot providedUncertain significance
(Jan 8, 2020)
criteria provided, single submitterVCV001039452
59.
GRCh37:
Chr6:72889400
GRCh38:
Chr6:72179697
RIMS1not provided, Cone-rod dystrophy 7Benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000357831
60.
GRCh37:
Chr6:72889412
GRCh38:
Chr6:72179709
RIMS1not providedLikely benign
(Apr 20, 2020)
criteria provided, single submitterVCV001096465
61.
GRCh37:
Chr6:72889422
GRCh38:
Chr6:72179719
RIMS1R206Gnot providedUncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV001039074
62.
GRCh37:
Chr6:72889423
GRCh38:
Chr6:72179720
RIMS1R206Knot providedUncertain significance
(Aug 25, 2020)
criteria provided, single submitterVCV000957052
63.
GRCh37:
Chr6:72889445
GRCh38:
Chr6:72179742
RIMS1not providedLikely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001161593
64.
GRCh37:
Chr6:72889448
GRCh38:
Chr6:72179745
RIMS1E214Dnot providedUncertain significance
(Feb 11, 2020)
criteria provided, single submitterVCV000969381
65.
GRCh37:
Chr6:72889448
GRCh38:
Chr6:72179745
RIMS1not providedLikely benign
(Oct 13, 2019)
criteria provided, single submitterVCV000748399
66.
GRCh37:
Chr6:72889453
GRCh38:
Chr6:72179750
RIMS1S216Lnot providedUncertain significance
(Dec 27, 2019)
criteria provided, single submitterVCV000857958
67.
GRCh37:
Chr6:72889454
GRCh38:
Chr6:72179751
RIMS1not providedLikely benign
(Jan 21, 2020)
criteria provided, single submitterVCV001088593
68.
GRCh37:
Chr6:72889454
GRCh38:
Chr6:72179751
RIMS1not provided, Cone-rod dystrophy 7, not specified
Benign
(Nov 16, 2020)
criteria provided, multiple submitters, no conflictsVCV000260499
69.
GRCh37:
Chr6:72889455
GRCh38:
Chr6:72179752
RIMS1R217Wnot providedUncertain significance
(Jun 13, 2020)
criteria provided, single submitterVCV001008607
70.
GRCh37:
Chr6:72889472
GRCh38:
Chr6:72179769
RIMS1not providedLikely benign
(Mar 20, 2020)
criteria provided, single submitterVCV001086255
71.
GRCh37:
Chr6:72889472
GRCh38:
Chr6:72179769
RIMS1not specified, not provided, Cone-rod dystrophy 7
Benign
(Nov 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000260500
72.
GRCh37:
Chr6:72889478
GRCh38:
Chr6:72179775
RIMS1not provided, Cone-rod dystrophy 7Conflicting interpretations of pathogenicity
(Nov 12, 2019)
criteria provided, conflicting interpretationsVCV000357832
73.
GRCh37:
Chr6:72889480
GRCh38:
Chr6:72179777
RIMS1A225Vnot providedUncertain significance
(Sep 9, 2020)
criteria provided, single submitterVCV001058065
74.
GRCh37:
Chr6:72889514
GRCh38:
Chr6:72179811
RIMS1not providedLikely benign
(Oct 1, 2020)
criteria provided, single submitterVCV001109112
75.
GRCh37:
Chr6:72889514
GRCh38:
Chr6:72179811
RIMS1S236Rnot providedUncertain significance
(Nov 27, 2019)
criteria provided, single submitterVCV000838528
76.
GRCh37:
Chr6:72889527
GRCh38:
Chr6:72179824
RIMS1R241Gnot providedUncertain significance
(Aug 5, 2020)
criteria provided, single submitterVCV001026286
77.
GRCh37:
Chr6:72889549
GRCh38:
Chr6:72179846
RIMS1S248Lnot provided, Cone-rod dystrophy 7, not specified
Benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000260501
78.
GRCh37:
Chr6:72889563
GRCh38:
Chr6:72179860
RIMS1G253Rnot providedUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV001021105
79.
GRCh37:
Chr6:72889604
GRCh38:
Chr6:72179901
RIMS1not provided, Cone-rod dystrophy 7Likely benign
(Oct 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000740717
80.
GRCh37:
Chr6:72889607
GRCh38:
Chr6:72179904
RIMS1not providedLikely benign
(Jun 23, 2020)
criteria provided, single submitterVCV001103858
81.
GRCh37:
Chr6:72889628
GRCh38:
Chr6:72179925
RIMS1not providedLikely benign
(May 7, 2018)
criteria provided, single submitterVCV000746485
82.
GRCh37:
Chr6:72889711
GRCh38:
Chr6:72180008
RIMS1not providedBenign
(Jul 17, 2018)
criteria provided, single submitterVCV001181181
83.
GRCh37:
Chr6:72891973
GRCh38:
Chr6:72182270
RIMS1not provided, Cone-rod dystrophy 7Benign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000357833
84.
GRCh37:
Chr6:72892000
GRCh38:
Chr6:72182297
RIMS1G276Rnot provided, Cone-rod dystrophy 7Conflicting interpretations of pathogenicity
(Mar 27, 2020)
criteria provided, conflicting interpretationsVCV000862711
85.
GRCh37:
Chr6:72892050
GRCh38:
Chr6:72182347
RIMS1not providedLikely benign
(Mar 10, 2020)
criteria provided, single submitterVCV001129478
86.
GRCh37:
Chr6:72892069
GRCh38:
Chr6:72182366
RIMS1Q299Enot providedUncertain significance
(Oct 10, 2020)
criteria provided, single submitterVCV001061886
87.
GRCh37:
Chr6:72892079
GRCh38:
Chr6:72182376
RIMS1E302Anot providedUncertain significance
(Mar 27, 2020)
criteria provided, single submitterVCV001023779
88.
GRCh37:
Chr6:72892080
GRCh38:
Chr6:72182377
RIMS1not providedLikely benign
(Dec 26, 2019)
criteria provided, single submitterVCV001132637
89.
GRCh37:
Chr6:72892087
GRCh38:
Chr6:72182384
RIMS1V305LCone-rod dystrophy 7Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357834
90.
GRCh37:
Chr6:72892089
GRCh38:
Chr6:72182386
RIMS1not providedLikely benign
(Jul 24, 2019)
criteria provided, single submitterVCV001101832
91.
GRCh37:
Chr6:72892091
GRCh38:
Chr6:72182388
RIMS1E306Anot providedUncertain significance
(Aug 7, 2020)
criteria provided, single submitterVCV001025882
92.
GRCh37:
Chr6:72892102
GRCh38:
Chr6:72182399
RIMS1R310Cnot provided, Cone-rod dystrophy 7Conflicting interpretations of pathogenicity
(Feb 24, 2020)
criteria provided, conflicting interpretationsVCV000838989
93.
GRCh37:
Chr6:72892102
GRCh38:
Chr6:72182399
RIMS1R310GCone-rod dystrophy 7Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357835
94.
GRCh37:
Chr6:72892116
GRCh38:
Chr6:72182413
RIMS1not provided, Cone-rod dystrophy 7Benign
(Oct 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000357836
95.
GRCh37:
Chr6:72892128
GRCh38:
Chr6:72182425
RIMS1R318SCone-rod dystrophy 7Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000911090
96.
GRCh37:
Chr6:72892133
GRCh38:
Chr6:72182430
RIMS1E320Gnot providedUncertain significance
(Oct 20, 2020)
criteria provided, single submitterVCV001018445
97.
GRCh37:
Chr6:72892160
GRCh38:
Chr6:72182457
RIMS1D329Gnot providedUncertain significance
(Sep 24, 2020)
criteria provided, single submitterVCV001043407
98.
GRCh37:
Chr6:72892183
GRCh38:
Chr6:72182480
RIMS1G337Snot providedUncertain significance
(Dec 20, 2019)
criteria provided, single submitterVCV000862961
99.
GRCh37:
Chr6:72892191
GRCh38:
Chr6:72182488
RIMS1not providedLikely benign
(Dec 6, 2019)
criteria provided, single submitterVCV001145519
100.
GRCh37:
Chr6:72892220
GRCh38:
Chr6:72182517
RIMS1E349Anot providedUncertain significance
(Jun 27, 2020)
criteria provided, single submitterVCV000848682
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