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Items: 1 to 100 of 125

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr16:53634712
GRCh38:
Chr16:53600800
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
2.
GRCh37:
Chr16:53634119
GRCh38:
Chr16:53600207
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
3.
GRCh37:
Chr16:53730127
GRCh38:
Chr16:53696215
RPGRIP1LR56CMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis 8,
Meckel syndrome, type 5, Joubert syndrome 7		Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr16:53721892
GRCh38:
Chr16:53687980
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 5,
Joubert syndrome 7, Nephronophthisis 8		Conflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
5.
GRCh37:
Chr16:53686637
GRCh38:
Chr16:53652725
RPGRIP1LE654DMeckel syndrome, type 5, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Joubert syndrome 7, Nephronophthisis 8		Uncertain significance
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr16:53671726
GRCh38:
Chr16:53637814
RPGRIP1LT1034I, T1000IMeckel syndrome, type 5, Joubert syndrome 7, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis 8		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr16:53653054
GRCh38:
Chr16:53619142
RPGRIP1LD1133N, D1087N, D1167N, D1121NMeckel syndrome, type 5, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Joubert syndrome 7, Nephronophthisis 8		Uncertain significance
(Nov 1, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr16:53636033
GRCh38:
Chr16:53602121
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Mar 23, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr16:53635935
GRCh38:
Chr16:53602023
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr16:53635166
GRCh38:
Chr16:53601254
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
11.
GRCh37:
Chr16:53635142
GRCh38:
Chr16:53601230
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr16:53635137
GRCh38:
Chr16:53601225
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr16:53634603
GRCh38:
Chr16:53600691
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr16:53634527
GRCh38:
Chr16:53600615
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr16:53721785
GRCh38:
Chr16:53687873
RPGRIP1LI208VNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr16:53720482
GRCh38:
Chr16:53686570
RPGRIP1LN213KNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr16:53692355
GRCh38:
Chr16:53658443
RPGRIP1LE458KNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr16:53635881
GRCh38:
Chr16:53601969
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr16:53635497
GRCh38:
Chr16:53601585
RPGRIP1LNephronophthisis 8, Joubert syndrome 7, not provided,
Meckel syndrome, type 5		Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr16:53634955
GRCh38:
Chr16:53601043
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr16:53634478
GRCh38:
Chr16:53600566
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr16:53737723
GRCh38:
Chr16:53703811
LOC130059035, RPGRIP1LJoubert syndrome 7, Nephronophthisis 8, Meckel syndrome, type 5
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr16:53730049
GRCh38:
Chr16:53696137
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis 8		Conflicting interpretations of pathogenicity
(Feb 5, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr16:53691425
GRCh38:
Chr16:53657513
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr16:53682921
GRCh38:
Chr16:53649009
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis 8		Conflicting interpretations of pathogenicity
(Jul 1, 2020)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr16:53656232
GRCh38:
Chr16:53622320
RPGRIP1LA1111T, A1077TFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 7,
COACH syndrome 3, Meckel syndrome, type 5, Nephronophthisis 8,
not provided, Meckel syndrome, type 5, Joubert syndrome 7
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr16:53634782
GRCh38:
Chr16:53600870
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr16:53634391
GRCh38:
Chr16:53600479
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr16:53634343
GRCh38:
Chr16:53600431
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr16:53737715
GRCh38:
Chr16:53703803
LOC130059035, RPGRIP1LJoubert syndrome 7, Nephronophthisis 8, Meckel syndrome, type 5
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr16:53730198
GRCh38:
Chr16:53696286
RPGRIP1LT32IJoubert syndrome 7, Nephronophthisis 8, Meckel syndrome, type 5
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr16:53639459
GRCh38:
Chr16:53605547
RPGRIP1LV1257M, V1211M, V1223M, V1177MMeckel syndrome, type 5, Meckel syndrome, type 5, COACH syndrome 3,
Joubert syndrome 7, Joubert syndrome 7, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis 8		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr16:53639404
GRCh38:
Chr16:53605492
RPGRIP1LQ1241R, Q1195R, Q1229R, Q1275RNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7,
Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7
Uncertain significance
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr16:53635863
GRCh38:
Chr16:53601951
RPGRIP1LJoubert syndrome 7, Nephronophthisis 8, Meckel syndrome, type 5
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr16:53635855
GRCh38:
Chr16:53601943
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr16:53635829
GRCh38:
Chr16:53601917
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr16:53635400
GRCh38:
Chr16:53601488
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr16:53726215
GRCh38:
Chr16:53692303
RPGRIP1LG98Snot provided, Joubert syndrome 7, Nephronophthisis 8,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7, Meckel syndrome, type 5
Uncertain significance
(Oct 6, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr16:53672272
GRCh38:
Chr16:53638360
RPGRIP1LH1004YFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 5,
Joubert syndrome 7, Nephronophthisis 8		Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr16:53730098
GRCh38:
Chr16:53696186
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 5,
Joubert syndrome 7, Nephronophthisis 8		Conflicting interpretations of pathogenicity
(Oct 16, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr16:53679821
GRCh38:
Chr16:53645909
RPGRIP1LN800TJoubert syndrome 7, RPGRIP1L-related condition, Nephronophthisis 8,
Joubert syndrome 7, COACH syndrome 3, Meckel syndrome, type 5,
Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not provided, Meckel syndrome, type 5 ...see more		Uncertain significance
(Oct 13, 2023)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr16:53686895
GRCh38:
Chr16:53652983
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 7,
Nephronophthisis 8, Meckel syndrome, type 5, not provided
Conflicting interpretations of pathogenicity
(Sep 5, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr16:53721779
GRCh38:
Chr16:53687867
RPGRIP1LN210Dnot provided, Nephronophthisis 8, Meckel syndrome, type 5,
Joubert syndrome 7, Joubert syndrome 7, Meckel syndrome, type 5,
COACH syndrome 3, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not specified		Uncertain significance
(Feb 17, 2023)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:53671594
GRCh38:
Chr16:53637682
RPGRIP1Lnot specified, Meckel syndrome, type 5, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis 8, Joubert syndrome 7
Conflicting interpretations of pathogenicity
(Aug 27, 2022)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr16:53737769
GRCh38:
Chr16:53703857
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, Nephronophthisis 8
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr16:53737716
GRCh38:
Chr16:53703804
LOC130059035, RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, Nephronophthisis 8
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr16:53734652
GRCh38:
Chr16:53700740
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, Nephronophthisis 8
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr16:53730122
GRCh38:
Chr16:53696210
RPGRIP1LL57FFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 8,
Joubert syndrome 7, Meckel syndrome, type 5, not provided
Conflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr16:53730076
GRCh38:
Chr16:53696164
RPGRIP1LD73HJoubert syndrome 7, RPGRIP1L-related condition, Meckel syndrome, type 5,
Meckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
not provided, Inborn genetic diseases, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis 8 ...see more		Uncertain significance
(Apr 24, 2023)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr16:53726256
GRCh38:
Chr16:53692344
RPGRIP1LR84QJoubert syndrome 7, RPGRIP1L-related condition, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 1, not provided,
Meckel syndrome, type 5, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Nephronophthisis 8		Conflicting interpretations of pathogenicity
(Sep 11, 2023)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr16:53726214
GRCh38:
Chr16:53692302
RPGRIP1LG98VNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7,
COACH syndrome 3, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Sep 14, 2021)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:53726204
GRCh38:
Chr16:53692292
RPGRIP1LNephronophthisis 8, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Meckel syndrome, type 5, Joubert syndrome 7		Conflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr16:53726063
GRCh38:
Chr16:53692151
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 8,
Meckel syndrome, type 5, Joubert syndrome 7		Conflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr16:53705440
GRCh38:
Chr16:53671528
RPGRIP1LY362CJoubert syndrome 7, Meckel syndrome, type 5, Joubert syndrome 7,
COACH syndrome 3, RPGRIP1L-related condition, Meckel syndrome, type 5,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 8
Conflicting interpretations of pathogenicity
(May 4, 2023)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr16:53692703
GRCh38:
Chr16:53658791
RPGRIP1LR444HFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 7,
RPGRIP1L-related condition, Meckel syndrome, type 5, Nephronophthisis 8
Uncertain significance
(Jul 1, 2023)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr16:53690499
GRCh38:
Chr16:53656587
RPGRIP1LM528IJoubert syndrome 7, Nephronophthisis 8, Meckel syndrome, type 5
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr16:53686639
GRCh38:
Chr16:53652727
RPGRIP1LE654KFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 8,
Meckel syndrome, type 5, Joubert syndrome 7		Conflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr16:53682979
GRCh38:
Chr16:53649067
RPGRIP1LR734QFamilial aplasia of the vermis, Meckel-Gruber syndrome, not provided,
Joubert syndrome 7, Meckel syndrome, type 5, Nephronophthisis 8
Uncertain significance
(Aug 2, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:53679893
GRCh38:
Chr16:53645981
RPGRIP1LT776INephronophthisis 8, Meckel syndrome, type 5, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Joubert syndrome 7		Uncertain significance
(Sep 24, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:53679806
GRCh38:
Chr16:53645894
RPGRIP1LR805QFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 8,
Meckel syndrome, type 5, Joubert syndrome 7		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:53679683
GRCh38:
Chr16:53645771
RPGRIP1LV846AFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 8,
Meckel syndrome, type 5, Joubert syndrome 7		Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr16:53679655
GRCh38:
Chr16:53645743
RPGRIP1LNephronophthisis 8, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Meckel syndrome, type 5, Joubert syndrome 7		Conflicting interpretations of pathogenicity
(Sep 3, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr16:53679538
GRCh38:
Chr16:53645626
RPGRIP1Lnot provided, Nephronophthisis 8, Meckel syndrome, type 5,
Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 7
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr16:53674977
GRCh38:
Chr16:53641065
RPGRIP1LS976TNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr16:53672338
GRCh38:
Chr16:53638426
RPGRIP1Lnot specified, Nephronophthisis 8, Meckel syndrome, type 5,
Joubert syndrome 7, Familial aplasia of the vermis, Meckel-Gruber syndrome
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr16:53671674
GRCh38:
Chr16:53637762
RPGRIP1LQ1051H, Q1017HNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr16:53671648
GRCh38:
Chr16:53637736
RPGRIP1LS1026F, S1060FNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr16:53652975
GRCh38:
Chr16:53619063
RPGRIP1LP1193L, P1113L, P1159L, P1147LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr16:53636097
GRCh38:
Chr16:53602185
RPGRIP1LF1200S, F1280S, F1246S, F1234SMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7,
Inborn genetic diseases, Nephronophthisis 8, Joubert syndrome 7
Conflicting interpretations of pathogenicity
(Apr 18, 2023)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr16:53636054
GRCh38:
Chr16:53602142
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 8,
Joubert syndrome 7, not provided, Meckel syndrome, type 5
Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr16:53635933
GRCh38:
Chr16:53602021
RPGRIP1Lnot provided, Nephronophthisis 8, Meckel syndrome, type 5,
Joubert syndrome 7		Benign
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:53635869
GRCh38:
Chr16:53601957
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr16:53635726
GRCh38:
Chr16:53601814
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr16:53635719
GRCh38:
Chr16:53601807
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr16:53635718
GRCh38:
Chr16:53601806
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr16:53635656
GRCh38:
Chr16:53601744
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr16:53635570
GRCh38:
Chr16:53601658
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr16:53635482
GRCh38:
Chr16:53601570
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr16:53635456
GRCh38:
Chr16:53601544
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr16:53635362
GRCh38:
Chr16:53601450
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr16:53635290
GRCh38:
Chr16:53601378
RPGRIP1LNephronophthisis 8, Joubert syndrome 7, Meckel syndrome, type 5
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr16:53635251
GRCh38:
Chr16:53601339
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Benign
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr16:53635113
GRCh38:
Chr16:53601201
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr16:53635008
GRCh38:
Chr16:53601096
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr16:53634953
GRCh38:
Chr16:53601041
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr16:53634781
GRCh38:
Chr16:53600869
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr16:53634679
GRCh38:
Chr16:53600767
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr16:53634506
GRCh38:
Chr16:53600594
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr16:53634404
GRCh38:
Chr16:53600492
RPGRIP1LJoubert syndrome 7, Meckel syndrome, type 5, not provided,
Nephronophthisis 8		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr16:53634361
GRCh38:
Chr16:53600449
RPGRIP1LJoubert syndrome 7, not provided, Meckel syndrome, type 5,
Nephronophthisis 8		Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr16:53634295
GRCh38:
Chr16:53600383
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Benign
(Jan 13, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr16:53634105
GRCh38:
Chr16:53600193
RPGRIP1LMeckel syndrome, type 5, Nephronophthisis 8, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr16:53686789
GRCh38:
Chr16:53652877
RPGRIP1LE604KInborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Meckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 1,
not provided, Nephronophthisis 8, Meckel syndrome, type 5,
Joubert syndrome 7		Conflicting interpretations of pathogenicity
(Dec 21, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr16:53690401
GRCh38:
Chr16:53656489
RPGRIP1LR561HMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis 8,
Meckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
RPGRIP1L-related condition, not provided, Meckel syndrome, type 5,
Joubert syndrome 7		Uncertain significance
(Jul 24, 2023)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr16:53706901
GRCh38:
Chr16:53672989
RPGRIP1LD304NNephronophthisis 8, RPGRIP1L-related condition, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7, Familial aplasia of the vermis,
Meckel-Gruber syndrome, not provided, Meckel syndrome, type 5,
Joubert syndrome 7		Uncertain significance
(Feb 14, 2023)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr16:53706849
GRCh38:
Chr16:53672937
RPGRIP1LR321HFamilial aplasia of the vermis, Meckel-Gruber syndrome, not provided,
Nephronophthisis 8, RPGRIP1L-related condition, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7, Meckel syndrome, type 5,
Joubert syndrome 7		Uncertain significance
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr16:53652930
GRCh38:
Chr16:53619018
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, not specified,
Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Joubert syndrome 7		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr16:53679547
GRCh38:
Chr16:53645635
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 8,
not provided, Meckel syndrome, type 5, not specified,
Joubert syndrome 7		Conflicting interpretations of pathogenicity
(Feb 1, 2023)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr16:53644956
GRCh38:
Chr16:53611044
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, not specified,
not provided, Nephronophthisis 8, Meckel syndrome, type 5,
Joubert syndrome 7		Conflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr16:53653102
GRCh38:
Chr16:53619190
RPGRIP1LI1071L, I1151L, I1117L, I1105LMeckel syndrome, type 5, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not specified, Nephronophthisis 8, Joubert syndrome 7
Conflicting interpretations of pathogenicity
(Mar 10, 2022)		criteria provided, conflicting interpretations
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