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Items: 1 to 100 of 540

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:1560515
GRCh38:
Chr16:1510514
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884450
2.
GRCh37:
Chr16:1560516
GRCh38:
Chr16:1510515
IFT140Saldino-Mainzer syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000317974
3.
GRCh37:
Chr16:1560542
GRCh38:
Chr16:1510541
IFT140Saldino-Mainzer syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000884451
4.
GRCh37:
Chr16:1560667
GRCh38:
Chr16:1510666
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000317975
5.
GRCh37:
Chr16:1560710
GRCh38:
Chr16:1510709
IFT140Saldino-Mainzer syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000317976
6.
GRCh37:
Chr16:1560719
GRCh38:
Chr16:1510718
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000317977
7.
GRCh37:
Chr16:1560738
GRCh38:
Chr16:1510737
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885375
8.
GRCh37:
Chr16:1560787
GRCh38:
Chr16:1510786
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000317978
9.
GRCh37:
Chr16:1560792
GRCh38:
Chr16:1510791
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000317979
10.
GRCh37:
Chr16:1560827
GRCh38:
Chr16:1510826
IFT140Saldino-Mainzer syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000317980
11.
GRCh37:
Chr16:1560854
GRCh38:
Chr16:1510853
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885376
12.
GRCh37:
Chr16:1560882
GRCh38:
Chr16:1510881
IFT140Saldino-Mainzer syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000885377
13.
GRCh37:
Chr16:1560886
GRCh38:
Chr16:1510885
IFT140Retinitis pigmentosa 80, not provided, Saldino-Mainzer syndrome
Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000317981
14.
GRCh37:
Chr16:1560899
GRCh38:
Chr16:1510898
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000317982
15.
GRCh37:
Chr16:1560922
GRCh38:
Chr16:1510921
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000317983
16.
GRCh37:
Chr16:1560943
GRCh38:
Chr16:1510942
IFT140not specified, Saldino-Mainzer syndromeLikely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000281447
17.
GRCh37:
Chr16:1560946
GRCh38:
Chr16:1510945
IFT140Saldino-Mainzer syndromeLikely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001133010
18.
GRCh37:
Chr16:1560947-1560948
GRCh38:
Chr16:1510946-1510947
IFT140Saldino-Mainzer syndromeUncertain significance
(Mar 10, 2020)
criteria provided, single submitterVCV001062882
19.
GRCh37:
Chr16:1560949
GRCh38:
Chr16:1510948
IFT140P1462LSaldino-Mainzer syndromeUncertain significance
(Mar 12, 2020)
criteria provided, single submitterVCV000971136
20.
GRCh37:
Chr16:1560951
GRCh38:
Chr16:1510950
IFT140Saldino-Mainzer syndromeLikely benign
(Mar 12, 2020)
criteria provided, single submitterVCV001118806
21.
GRCh37:
Chr16:1560953
GRCh38:
Chr16:1510952
IFT140D1461NSaldino-Mainzer syndromeUncertain significance
(Oct 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000317984
22.
GRCh37:
Chr16:1560954
GRCh38:
Chr16:1510953
IFT140not provided, Saldino-Mainzer syndromeBenign
(May 6, 2021)
criteria provided, multiple submitters, no conflictsVCV000317985
23.
GRCh37:
Chr16:1560956
GRCh38:
Chr16:1510955
IFT140D1460NSaldino-Mainzer syndromeUncertain significance
(Jul 24, 2020)
criteria provided, single submitterVCV001059677
24.
GRCh37:
Chr16:1560972
GRCh38:
Chr16:1510971
IFT140Saldino-Mainzer syndromeLikely benign
(Oct 16, 2019)
criteria provided, single submitterVCV001152576
25.
GRCh37:
Chr16:1560980
GRCh38:
Chr16:1510979
IFT140E1452KRetinitis pigmentosa 80, Saldino-Mainzer syndromeUncertain significance
(Nov 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000887467
26.
GRCh37:
Chr16:1560984
GRCh38:
Chr16:1510983
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887468
27.
GRCh37:
Chr16:1560993
GRCh38:
Chr16:1510992
IFT140R1448fsSaldino-Mainzer syndromeUncertain significance
(Aug 31, 2020)
criteria provided, single submitterVCV001054206
28.
GRCh37:
Chr16:1560996
GRCh38:
Chr16:1510995
IFT140not providedLikely benign
(May 31, 2018)
criteria provided, single submitterVCV000750237
29.
GRCh37:
Chr16:1561015
GRCh38:
Chr16:1511014
IFT140R1440HSaldino-Mainzer syndromeLikely benign
(Nov 15, 2020)
criteria provided, single submitterVCV001130106
30.
GRCh37:
Chr16:1561016
GRCh38:
Chr16:1511015
IFT140R1440CSaldino-Mainzer syndromeUncertain significance
(May 15, 2020)
criteria provided, single submitterVCV000465320
31.
GRCh37:
Chr16:1561025
GRCh38:
Chr16:1511024
IFT140E1437KSaldino-Mainzer syndromeUncertain significance
(Aug 4, 2020)
criteria provided, single submitterVCV000856505
32.
GRCh37:
Chr16:1561031
GRCh38:
Chr16:1511030
IFT140V1435ISaldino-Mainzer syndromeUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV000855250
33.
GRCh37:
Chr16:1561032
GRCh38:
Chr16:1511031
IFT140Saldino-Mainzer syndromeLikely benign
(Oct 29, 2020)
criteria provided, single submitterVCV001141021
34.
GRCh37:
Chr16:1561036
GRCh38:
Chr16:1511035
IFT140R1433HSaldino-Mainzer syndromeLikely benign
(Dec 20, 2019)
criteria provided, single submitterVCV000771596
35.
GRCh37:
Chr16:1561037
GRCh38:
Chr16:1511036
IFT140R1433CSaldino-Mainzer syndromeUncertain significance
(Oct 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000858968
36.
GRCh37:
Chr16:1561056
GRCh38:
Chr16:1511055
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000317986
37.
GRCh37:
Chr16:1561057
GRCh38:
Chr16:1511056
IFT140G1426ESaldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000317987
38.
GRCh37:
Chr16:1561060
GRCh38:
Chr16:1511059
IFT140R1425QSaldino-Mainzer syndromeUncertain significance
(Aug 8, 2020)
criteria provided, single submitterVCV000957473
39.
GRCh37:
Chr16:1561061
GRCh38:
Chr16:1511060
IFT140R1425WSaldino-Mainzer syndromeUncertain significance
(Jun 16, 2020)
criteria provided, single submitterVCV000934789
40.
GRCh37:
Chr16:1561061
GRCh38:
Chr16:1511060
IFT140Saldino-Mainzer syndromeLikely benign
(Sep 5, 2020)
criteria provided, single submitterVCV000766975
41.
GRCh37:
Chr16:1561062
GRCh38:
Chr16:1511061
IFT140H1424QSaldino-Mainzer syndromeUncertain significance
(Aug 22, 2019)
criteria provided, single submitterVCV000942016
42.
GRCh37:
Chr16:1561067
GRCh38:
Chr16:1511066
IFT140V1423MSaldino-Mainzer syndromeUncertain significance
(Jun 23, 2020)
criteria provided, single submitterVCV001007047
43.
GRCh37:
Chr16:1561068
GRCh38:
Chr16:1511067
IFT140Saldino-Mainzer syndromeConflicting interpretations of pathogenicity
(Oct 15, 2020)
criteria provided, conflicting interpretationsVCV000317988
44.
GRCh37:
Chr16:1561070
GRCh38:
Chr16:1511069
IFT140A1422Tnot provided, Saldino-Mainzer syndromeConflicting interpretations of pathogenicity
(Mar 11, 2020)
criteria provided, conflicting interpretationsVCV000387707
45.
GRCh37:
Chr16:1561071
GRCh38:
Chr16:1511070
IFT140Saldino-Mainzer syndromeLikely benign
(Dec 24, 2019)
criteria provided, single submitterVCV000767489
46.
GRCh37:
Chr16:1561074
GRCh38:
Chr16:1511073
IFT140Saldino-Mainzer syndromeLikely benign
(Oct 5, 2020)
criteria provided, single submitterVCV000775020
47.
GRCh37:
Chr16:1561083
GRCh38:
Chr16:1511082
IFT140Saldino-Mainzer syndromeUncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000887656
48.
GRCh37:
Chr16:1561084
GRCh38:
Chr16:1511083
IFT140P1417LSaldino-Mainzer syndromeUncertain significance
(Dec 28, 2019)
criteria provided, single submitterVCV000856649
49.
GRCh37:
Chr16:1561094-1561095
GRCh38:
Chr16:1511093-1511094
IFT140Y1414fsRetinal ciliopathy due to mutation in the retinitis pigmentosa-1 genePathogenic
(Jan 1, 2018)
criteria provided, single submitterVCV000523182
50.
GRCh37:
Chr16:1561100
GRCh38:
Chr16:1511099
IFT140S1412Pnot providedUncertain significance
(Feb 17, 2020)
criteria provided, single submitterVCV001312108
51.
GRCh37:
Chr16:1561107
GRCh38:
Chr16:1511106
IFT140Saldino-Mainzer syndromeLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV001124857
52.
GRCh37:
Chr16:1561117-1561118
GRCh38:
Chr16:1511116-1511117
IFT140Retinal dystrophy, Saldino-Mainzer syndromeConflicting interpretations of pathogenicity
(Jul 8, 2020)
criteria provided, conflicting interpretationsVCV000719195
53.
GRCh37:
Chr16:1561118-1561120
GRCh38:
Chr16:1511117-1511119
IFT140R1405delSaldino-Mainzer syndromeUncertain significance
(Aug 20, 2020)
criteria provided, single submitterVCV000849213
54.
GRCh37:
Chr16:1561120
GRCh38:
Chr16:1511119
IFT140R1405QSaldino-Mainzer syndromeUncertain significance
(Sep 21, 2020)
criteria provided, single submitterVCV000859231
55.
GRCh37:
Chr16:1561126
GRCh38:
Chr16:1511125
IFT140R1403QSaldino-Mainzer syndrome, not providedUncertain significance
(Jul 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000499715
56.
GRCh37:
Chr16:1561129
GRCh38:
Chr16:1511128
IFT140M1402TSaldino-Mainzer syndromeUncertain significance
(Mar 18, 2020)
criteria provided, single submitterVCV000835647
57.
GRCh37:
Chr16:1561133
GRCh38:
Chr16:1511132
IFT140E1401QSaldino-Mainzer syndromeUncertain significance
(Oct 24, 2019)
criteria provided, single submitterVCV000968153
58.
GRCh37:
Chr16:1561134
GRCh38:
Chr16:1511133
IFT140Saldino-Mainzer syndromeLikely benign
(Aug 20, 2019)
criteria provided, single submitterVCV001099784
59.
GRCh37:
Chr16:1561138
GRCh38:
Chr16:1511137
IFT140L1399PRetinitis pigmentosa 80Pathogenic
(Nov 22, 2017)
no assertion criteria providedVCV000446311
60.
GRCh37:
Chr16:1561147
GRCh38:
Chr16:1511146
IFT140Y1396CSaldino-Mainzer syndromeUncertain significance
(Aug 14, 2019)
criteria provided, single submitterVCV000957159
61.
GRCh37:
Chr16:1561157
GRCh38:
Chr16:1511156
IFT140Saldino-Mainzer syndromeLikely benign
(Sep 8, 2019)
criteria provided, single submitterVCV001099989
62.
GRCh37:
Chr16:1561167
GRCh38:
Chr16:1511166
IFT140Saldino-Mainzer syndromeLikely benign
(Oct 5, 2020)
criteria provided, single submitterVCV001092091
63.
GRCh37:
Chr16:1561323
GRCh38:
Chr16:1511322
IFT140not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001289930
64.
GRCh37:
Chr16:1561339
GRCh38:
Chr16:1511338
IFT140not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001274110
65.
GRCh37:
Chr16:1565628-1565629
GRCh38:
Chr16:1515627-1515628
IFT140Saldino-Mainzer syndrome, Joubert syndrome with Jeune asphyxiating thoracic dystrophy, Cranioectodermal dysplasia,
Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
Pathogenic
(Jan 1, 2018)
criteria provided, single submitterVCV000523177
66.
GRCh37:
Chr16:1568199
GRCh38:
Chr16:1518198
IFT140Saldino-Mainzer syndromeLikely benign
(Sep 25, 2020)
criteria provided, single submitterVCV001142092
67.
GRCh37:
Chr16:1568202
GRCh38:
Chr16:1518201
IFT140Saldino-Mainzer syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000887657
68.
GRCh37:
Chr16:1568220
GRCh38:
Chr16:1518219
IFT140Q1393HSaldino-Mainzer syndromeUncertain significance
(Mar 12, 2020)
criteria provided, single submitterVCV001044875
69.
GRCh37:
Chr16:1568236
GRCh38:
Chr16:1518235
IFT140R1388QSaldino-Mainzer syndromeUncertain significance
(Feb 22, 2020)
criteria provided, single submitterVCV000938528
70.
GRCh37:
Chr16:1568240
GRCh38:
Chr16:1518239
IFT140V1387Mnot provided, Saldino-Mainzer syndromeUncertain significance
(Oct 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000963729
71.
GRCh37:
Chr16:1568240
GRCh38:
Chr16:1518239
IFT140V1387LSaldino-Mainzer syndromeUncertain significance
(May 22, 2020)
criteria provided, single submitterVCV000858488
72.
GRCh37:
Chr16:1568241
GRCh38:
Chr16:1518240
IFT140Saldino-Mainzer syndromeLikely benign
(Nov 17, 2020)
criteria provided, single submitterVCV000707488
73.
GRCh37:
Chr16:1568251
GRCh38:
Chr16:1518250
IFT140V1383ASaldino-Mainzer syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000317989
74.
GRCh37:
Chr16:1568255
GRCh38:
Chr16:1518254
IFT140Saldino-Mainzer syndromeLikely benign
(Oct 14, 2020)
criteria provided, single submitterVCV001086802
75.
GRCh37:
Chr16:1568263
GRCh38:
Chr16:1518262
IFT140Y1379CSaldino-Mainzer syndromeUncertain significance
(Aug 25, 2020)
criteria provided, single submitterVCV000954248
76.
GRCh37:
Chr16:1568274
GRCh38:
Chr16:1518273
IFT140Saldino-Mainzer syndromeLikely benign
(May 23, 2020)
criteria provided, single submitterVCV001113911
77.
GRCh37:
Chr16:1568295
GRCh38:
Chr16:1518294
IFT140D1368ESaldino-Mainzer syndromeUncertain significance
(Sep 7, 2019)
criteria provided, single submitterVCV000858275
78.
GRCh37:
Chr16:1568321
GRCh38:
Chr16:1518320
IFT140C1360RSaldino-Mainzer syndromePathogenic
(May 1, 2013)
no assertion criteria providedVCV000097052
79.
GRCh37:
Chr16:1568343
GRCh38:
Chr16:1518342
IFT140Saldino-Mainzer syndromeLikely benign
(Jan 27, 2020)
criteria provided, single submitterVCV001155279
80.
GRCh37:
Chr16:1568351
GRCh38:
Chr16:1518350
IFT140T1350ASaldino-Mainzer syndromeUncertain significance
(Aug 31, 2020)
criteria provided, multiple submitters, no conflictsVCV000887658
81.
GRCh37:
Chr16:1568356
GRCh38:
Chr16:1518355
IFT140T1348MSaldino-Mainzer syndromeUncertain significance
(Sep 5, 2019)
criteria provided, single submitterVCV000953698
82.
GRCh37:
Chr16:1568363
GRCh38:
Chr16:1518362
IFT140Retinitis pigmentosa 80, Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
Uncertain significance
(Aug 7, 2020)
criteria provided, single submitterVCV001063220
83.
GRCh37:
Chr16:1568364
GRCh38:
Chr16:1518363
IFT140not providedLikely benign
(Jul 16, 2018)
criteria provided, single submitterVCV000759876
84.
GRCh37:
Chr16:1568367
GRCh38:
Chr16:1518366
IFT140Saldino-Mainzer syndromeLikely benign
(Nov 1, 2019)
criteria provided, single submitterVCV001134538
85.
GRCh37:
Chr16:1568402
GRCh38:
Chr16:1518401
IFT140not provided, Retinitis pigmentosa 80, Saldino-Mainzer syndrome
Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV001185534
86.
GRCh37:
Chr16:1569145-1571812
GRCh38:
Chr16:1519144-1521811
IFT140Saldino-Mainzer syndrome, Joubert syndrome with Jeune asphyxiating thoracic dystrophyPathogenic
(Jan 1, 2018)
criteria provided, single submitterVCV000523185
87.
GRCh37:
Chr16:1569711
GRCh38:
Chr16:1519710
IFT140not providedBenign
(May 13, 2021)
criteria provided, single submitterVCV001250326
88.
GRCh37:
Chr16:1569867
GRCh38:
Chr16:1519866
IFT140Saldino-Mainzer syndromeBenign
(Nov 21, 2020)
criteria provided, single submitterVCV001164492
89.
GRCh37:
Chr16:1569871
GRCh38:
Chr16:1519870
IFT140Saldino-Mainzer syndromeBenign/Likely benign
(Nov 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000317990
90.
GRCh37:
Chr16:1569872
GRCh38:
Chr16:1519871
IFT140not specified, not provided, Saldino-Mainzer syndrome
Benign
(Nov 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000196178
91.
GRCh37:
Chr16:1569879
GRCh38:
Chr16:1519878
IFT140Saldino-Mainzer syndromeUncertain significance
(Jun 30, 2020)
criteria provided, single submitterVCV001054797
92.
GRCh37:
Chr16:1569881
GRCh38:
Chr16:1519880
IFT140Retinal dystrophyLikely pathogenic
(Apr 10, 2019)
criteria provided, single submitterVCV000866334
93.
GRCh37:
Chr16:1569886
GRCh38:
Chr16:1519885
IFT140R1346Cnot providedUncertain significance
(Jul 11, 2017)
criteria provided, single submitterVCV000592995
94.
GRCh37:
Chr16:1569895
GRCh38:
Chr16:1519894
IFT140I1343VSaldino-Mainzer syndromeUncertain significance
(Jul 1, 2020)
criteria provided, single submitterVCV001019179
95.
GRCh37:
Chr16:1569896
GRCh38:
Chr16:1519895
IFT140Saldino-Mainzer syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000317991
96.
GRCh37:
Chr16:1569902
GRCh38:
Chr16:1519901
IFT140Saldino-Mainzer syndromeLikely benign
(Oct 24, 2020)
criteria provided, single submitterVCV001147470
97.
GRCh37:
Chr16:1569927
GRCh38:
Chr16:1519926
IFT140L1332PSaldino-Mainzer syndromeUncertain significance
(Jun 2, 2020)
criteria provided, single submitterVCV001043056
98.
GRCh37:
Chr16:1569929
GRCh38:
Chr16:1519928
IFT140Q1331Hnot provided, not specified, Saldino-Mainzer syndrome
Conflicting interpretations of pathogenicity
(Nov 28, 2020)
criteria provided, conflicting interpretationsVCV000317992
99.
GRCh37:
Chr16:1569931
GRCh38:
Chr16:1519930
IFT140Q1331*not providedPathogenic
(Feb 27, 2015)
criteria provided, single submitterVCV000196180
100.
GRCh37:
Chr16:1569932
GRCh38:
Chr16:1519931
IFT140Saldino-Mainzer syndromeBenign
(Nov 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000317993
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