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Links from MedGen

Items: 1 to 100 of 308

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:98996754
GRCh38:
Chr2:98380291
CNGA3S111YAchromatopsiaUncertain significance
(Jul 24, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr2:99013352
GRCh38:
Chr2:98396889
CNGA3Y555*, Y573*AchromatopsiaLikely pathogenic
(Aug 2, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr19:46057106
GRCh38:
Chr19:45553848
OPA3K69TAchromatopsia, 3-Methylglutaconic aciduria type 3, Optic atrophy 3
Conflicting interpretations of pathogenicity
(Dec 8, 2021)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr2:99013382
GRCh38:
Chr2:98396919
CNGA3L566fs, L584fsnot provided, AchromatopsiaPathogenic
(Jul 15, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr10:95421861
GRCh38:
Chr10:93662104
PDE6CE752Knot provided, AchromatopsiaConflicting interpretations of pathogenicity
(Aug 30, 2021)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr10:95372962
GRCh38:
Chr10:93613205
PDE6CK160NAchromatopsiaPathogenic
(Jun 21, 2021)
criteria provided, single submitter
7.
GRCh37:
ChrX:153458961-153459102
GRCh38:
ChrX:154193470-154193611
OPN1MWM269fsAchromatopsiaPathogenic
(Jun 18, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr8:87680407
GRCh38:
Chr8:86668179
CNGB3not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr8:87755844
GRCh38:
Chr8:86743616
CNGB3not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr8:87591064
GRCh38:
Chr8:86578836
CNGB3not providedLikely benign
(Sep 7, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr8:87751911
GRCh38:
Chr8:86739683
CNGB3not providedLikely benign
(Aug 20, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr8:87588338
GRCh38:
Chr8:86576110
CNGB3not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr8:87751965
GRCh38:
Chr8:86739737
CNGB3not providedLikely pathogenic
(Jul 14, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr8:87641251
GRCh38:
Chr8:86629023
CNGB3M459Tnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr8:87616324
GRCh38:
Chr8:86604096
CNGB3I593Snot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr8:87656910
GRCh38:
Chr8:86644682
CNGB3T332Inot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr8:87588282
GRCh38:
Chr8:86576054
CNGB3Q727Rnot providedUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr8:87683312
GRCh38:
Chr8:86671084
CNGB3P118Lnot providedUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr8:87679202
GRCh38:
Chr8:86666974
CNGB3M268Tnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr8:87660109
GRCh38:
Chr8:86647881
CNGB3V304Fnot providedUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr8:87680277
GRCh38:
Chr8:86668049
CNGB3K205Qnot providedUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr8:87666290
GRCh38:
Chr8:86654062
CNGB3V285Mnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr8:87679187
GRCh38:
Chr8:86666959
CNGB3P273Lnot providedUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr10:95422307
GRCh38:
Chr10:93662550
PDE6Cnot providedUncertain significance
(Jan 12, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr8:87683197
GRCh38:
Chr8:86670969
CNGB3not providedLikely benign
(Sep 14, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr8:87683176
GRCh38:
Chr8:86670948
CNGB3Q163Hnot providedUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr8:87679325
GRCh38:
Chr8:86667097
CNGB3L227Pnot provided, Achromatopsia 3, not specified
Uncertain significance
(Aug 7, 2023)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr8:87590913
GRCh38:
Chr8:86578685
CNGB3AchromatopsiaUncertain significance
(Aug 16, 2020)
no assertion criteria provided
29.
GRCh37:
Chr8:87656892
GRCh38:
Chr8:86644664
CNGB3N338Snot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr8:87591451
GRCh38:
Chr8:86579223
CNGB3R604Qnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr8:87591433
GRCh38:
Chr8:86579205
CNGB3A610Vnot providedUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr8:87645096
GRCh38:
Chr8:86632868
CNGB3V402Fnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr8:87751888
GRCh38:
Chr8:86739660
CNGB3I69Tnot providedUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr8:87588217
GRCh38:
Chr8:86575989
CNGB3K749EAchromatopsia 3, Inborn genetic diseases, not provided
Uncertain significance
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr8:87591035-87591036
GRCh38:
Chr8:86578807-86578808
CNGB3not providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr8:87656031
GRCh38:
Chr8:86643803
CNGB3N376Dnot providedUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr8:87616406
GRCh38:
Chr8:86604178
CNGB3H566Ynot provided, Achromatopsia 3Uncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr8:87588262-87588263
GRCh38:
Chr8:86576034-86576035
CNGB3not providedUncertain significance
(May 13, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr8:87683190
GRCh38:
Chr8:86670962
CNGB3E159Knot providedUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr8:87755741
GRCh38:
Chr8:86743513
CNGB3Q39Knot providedUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr8:87656853
GRCh38:
Chr8:86644625
CNGB3Y351Cnot providedUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr8:87590970
GRCh38:
Chr8:86578742
CNGB3G684Rnot providedUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr8:87588043
GRCh38:
Chr8:86575815
CNGB3A807Snot providedUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr8:87683224
GRCh38:
Chr8:86670996
CNGB3K147Nnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr8:87591338
GRCh38:
Chr8:86579110
CNGB3A642Tnot providedUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr8:87755782
GRCh38:
Chr8:86743554
CNGB3R25Hnot providedLikely benign
(Oct 7, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:161761328
GRCh38:
Chr1:161791538
ATF6Achromatopsia, not providedLikely pathogenic
(Feb 20, 2020)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr8:87590933
GRCh38:
Chr8:86578705
CNGB3R696QInborn genetic diseases, Achromatopsia 3, not provided,
Severe early-childhood-onset retinal dystrophy
Conflicting interpretations of pathogenicity
(Aug 21, 2023)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr8:87638274
GRCh38:
Chr8:86626046
CNGB3Achromatopsia 3, Severe early-childhood-onset retinal dystrophy, not provided
Conflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr10:95422337
GRCh38:
Chr10:93662580
PDE6CAchromatopsia, Cone dystrophy 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr10:95421876
GRCh38:
Chr10:93662119
PDE6CQ757KAchromatopsia, Cone dystrophy 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr10:95399973
GRCh38:
Chr10:93640216
PDE6CE543DCone dystrophy 4, AchromatopsiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr10:95399901
GRCh38:
Chr10:93640144
PDE6CCone dystrophy 4, not provided, Achromatopsia
Conflicting interpretations of pathogenicity
(Jul 17, 2022)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr10:95372948
GRCh38:
Chr10:93613191
PDE6CP156SCone dystrophy 4, not provided, Achromatopsia
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr10:95372895
GRCh38:
Chr10:93613138
PDE6CL138Snot specified, Cone dystrophy 4, not provided,
Achromatopsia
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr10:95425239
GRCh38:
Chr10:93665482
PDE6CAchromatopsia, Cone dystrophy 4Uncertain significance
(Mar 30, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr10:95418708
GRCh38:
Chr10:93658951
PDE6CT696MAchromatopsia, not provided, Cone dystrophy 4
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr10:95395292
GRCh38:
Chr10:93635535
PDE6CAchromatopsia, not provided, Cone dystrophy 4
Conflicting interpretations of pathogenicity
(Apr 8, 2021)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr10:95385340
GRCh38:
Chr10:93625583
PDE6CAchromatopsia, not provided, Cone dystrophy 4
Conflicting interpretations of pathogenicity
(Jul 5, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr10:95381757
GRCh38:
Chr10:93622000
PDE6CAchromatopsia, not provided, Cone dystrophy 4
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr10:95372788
GRCh38:
Chr10:93613031
PDE6CAchromatopsia, not provided, Cone dystrophy 4
Conflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr10:95372765
GRCh38:
Chr10:93613008
PDE6CR95Cnot provided, Achromatopsia, Cone dystrophy 4
Uncertain significance
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:95395291
GRCh38:
Chr10:93635534
PDE6CT436SAchromatopsia, not provided, Cone dystrophy 4
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:95380683
GRCh38:
Chr10:93620926
PDE6CCone dystrophy 4, AchromatopsiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr10:95422883
GRCh38:
Chr10:93663126
PDE6CK822Nnot provided, Achromatopsia, Cone dystrophy 4
Conflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr10:95422803
GRCh38:
Chr10:93663046
PDE6CK796EAchromatopsia, Cone dystrophy 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr10:95422400
GRCh38:
Chr10:93662643
PDE6CAchromatopsia, Cone dystrophy 4Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr10:95405817
GRCh38:
Chr10:93646060
PDE6Cnot provided, Cone dystrophy 4, Achromatopsia
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr10:95400203
GRCh38:
Chr10:93640446
PDE6Cnot provided, Achromatopsia, Cone dystrophy 4
Conflicting interpretations of pathogenicity
(Dec 28, 2019)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr10:95394509
GRCh38:
Chr10:93634752
PDE6Cnot provided, Achromatopsia, Cone dystrophy 4
Conflicting interpretations of pathogenicity
(Jul 18, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr10:95380466
GRCh38:
Chr10:93620709
PDE6CAchromatopsia, Cone dystrophy 4, not provided
Uncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:95380445
GRCh38:
Chr10:93620688
PDE6CAchromatopsia, not provided, Cone dystrophy 4
Conflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr10:95372476
GRCh38:
Chr10:93612719
PDE6CCone dystrophy 4, AchromatopsiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr8:87755727
GRCh38:
Chr8:86743499
CNGB3Q43HRetinal dystrophy, not providedUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr8:87680387
GRCh38:
Chr8:86668159
CNGB3T168MRetinal dystrophy, not providedUncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr8:87588075
GRCh38:
Chr8:86575847
CNGB3E796GInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Feb 27, 2023)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr8:87683246
GRCh38:
Chr8:86671018
CNGB3R140Hnot providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr8:87588195
GRCh38:
Chr8:86575967
CNGB3C756Ynot providedUncertain significance
(Sep 7, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr8:87588120
GRCh38:
Chr8:86575892
CNGB3R781Hnot providedUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr8:87616364
GRCh38:
Chr8:86604136
CNGB3V580Inot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr8:87641260
GRCh38:
Chr8:86629032
CNGB3R456Hnot providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr8:87588227
GRCh38:
Chr8:86575999
CNGB3E745DInborn genetic diseases, not providedUncertain significance
(Jul 12, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr8:87591406
GRCh38:
Chr8:86579178
CNGB3L619Pnot providedUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr8:87616327
GRCh38:
Chr8:86604099
CNGB3E592Gnot providedUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr8:87738837
GRCh38:
Chr8:86726609
CNGB3D87GInborn genetic diseases, not providedUncertain significance
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr8:87655973
GRCh38:
Chr8:86643745
CNGB3not providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr8:87656040
GRCh38:
Chr8:86643812
CNGB3W373Rnot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr8:87660051
GRCh38:
Chr8:86647823
CNGB3F323Cnot providedUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr8:87679237
GRCh38:
Chr8:86667009
CNGB3not providedUncertain significance
(Oct 9, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr8:87641249
GRCh38:
Chr8:86629021
CNGB3D460Nnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr8:87588355
GRCh38:
Chr8:86576127
CNGB3K703Enot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr8:87679174
GRCh38:
Chr8:86666946
CNGB3F277Lnot providedUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr8:87755774
GRCh38:
Chr8:86743546
CNGB3E28Knot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr8:87591428
GRCh38:
Chr8:86579200
CNGB3G612WInborn genetic diseases, not providedUncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr8:87588087
GRCh38:
Chr8:86575859
CNGB3A792VInborn genetic diseases, not providedUncertain significance
(May 18, 2023)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr8:87641258
GRCh38:
Chr8:86629030
CNGB3A457Tnot providedLikely benign
(Oct 27, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr8:87683215
GRCh38:
Chr8:86670987
CNGB3L150Fnot providedLikely benign
(Oct 4, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr8:87656849
GRCh38:
Chr8:86644621
CNGB3Achromatopsia, not providedPathogenic/Likely pathogenic
(Nov 1, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr2:99012337
GRCh38:
Chr2:98395874
CNGA3D217V, D235VAchromatopsiaPathogenic
(Jan 9, 2020)
criteria provided, single submitter
100.
GRCh37:
Chr2:99006169
GRCh38:
Chr2:98389706
CNGA3L149fs, L167fsAchromatopsia, not providedPathogenic
(Mar 3, 2022)
criteria provided, multiple submitters, no conflicts
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