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Items: 1 to 100 of 292

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr16:53675012
GRCh38:
Chr16:53641100
RPGRIP1LP964fsJoubert syndrome 7Likely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr16:53726068
GRCh38:
Chr16:53692156
RPGRIP1LQ147*Joubert syndrome 7Likely pathogenic
(Jan 25, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr16:53692808
GRCh38:
Chr16:53658896
RPGRIP1LMeckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr16:53690512
GRCh38:
Chr16:53656600
RPGRIP1LMeckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr16:53692774
GRCh38:
Chr16:53658862
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr16:53708917
GRCh38:
Chr16:53675005
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr16:53686628
GRCh38:
Chr16:53652716
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, COACH syndrome 3,
Joubert syndrome 7, Meckel syndrome, type 5		Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr16:53639511
GRCh38:
Chr16:53605599
RPGRIP1LCOACH syndrome 3, Joubert syndrome 7, Meckel syndrome, type 5,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
9.
GRCh37:
Chr16:53653104
GRCh38:
Chr16:53619192
RPGRIP1LR1070Q, R1116Q, R1104Q, R1150QCOACH syndrome 3, Joubert syndrome 7, Meckel syndrome, type 5,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr16:53674944
GRCh38:
Chr16:53641032
RPGRIP1LMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Likely pathogenic
(Mar 12, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr16:53686882
GRCh38:
Chr16:53652970
RPGRIP1LA573TMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr16:53686686
GRCh38:
Chr16:53652774
RPGRIP1LY638CMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Uncertain significance
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr16:53639390
GRCh38:
Chr16:53605478
RPGRIP1LMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Uncertain significance
(Oct 22, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr16:53686814
GRCh38:
Chr16:53652902
RPGRIP1LD595EMeckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 7,
Meckel syndrome, type 5, COACH syndrome 3		Uncertain significance
(Nov 12, 2021)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr16:53679630
GRCh38:
Chr16:53645718
RPGRIP1LY864HCOACH syndrome 3, Joubert syndrome 7, Meckel syndrome, type 5,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Feb 23, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr16:53682941
GRCh38:
Chr16:53649029
RPGRIP1LR747*Joubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome and related disorders
Pathogenic/Likely pathogenic
(Nov 25, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr16:53734564-53734565
GRCh38:
Chr16:53700652-53700653
RPGRIP1LM24fsMeckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7
Pathogenic/Likely pathogenic
(Sep 17, 2023)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr16:53721808
GRCh38:
Chr16:53687896
RPGRIP1LL200*Meckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3		Pathogenic/Likely pathogenic
(Jan 27, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr16:53639410
GRCh38:
Chr16:53605498
RPGRIP1LI1273T, I1227T, I1239T, I1193TInborn genetic diseases, Joubert syndrome 7, COACH syndrome 3,
Meckel syndrome, type 5, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Oct 6, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr16:53636092
GRCh38:
Chr16:53602180
RPGRIP1LA1248T, A1282T, A1236T, A1202TMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3		Uncertain significance
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:53705444
GRCh38:
Chr16:53671532
RPGRIP1LN361DFamilial aplasia of the vermis, Meckel-Gruber syndrome, RPGRIP1L-related condition,
not provided, Joubert syndrome 7, Meckel syndrome, type 5,
COACH syndrome 3		Uncertain significance
(Oct 6, 2023)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr16:53691470
GRCh38:
Chr16:53657558
RPGRIP1LE492DMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr16:53698862
GRCh38:
Chr16:53664950
RPGRIP1LQ388RMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr16:53639417
GRCh38:
Chr16:53605505
RPGRIP1LD1191fs, D1225fs, D1271fs, D1237fsMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3		Uncertain significance
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr16:53720374
GRCh38:
Chr16:53686462
RPGRIP1LQ249HMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3		Uncertain significance
(Jul 9, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr16:53679641
GRCh38:
Chr16:53645729
RPGRIP1LS860CMeckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 7,
Meckel syndrome, type 5, COACH syndrome 3		Uncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr16:53653012
GRCh38:
Chr16:53619100
RPGRIP1LL1147I, L1101I, L1135I, L1181IJoubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr16:53686878
GRCh38:
Chr16:53652966
RPGRIP1LY574CJoubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
not provided, Meckel-Gruber syndrome, Familial aplasia of the vermis
Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr16:53679830
GRCh38:
Chr16:53645918
RPGRIP1LR797IJoubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr16:53683013
GRCh38:
Chr16:53649101
RPGRIP1LI723VJoubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(May 19, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr16:53686481
GRCh38:
Chr16:53652569
RPGRIP1LK706NInborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Meckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3
Uncertain significance
(May 5, 2023)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr16:53730193
GRCh38:
Chr16:53696281
RPGRIP1LR34GFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr16:53656208
GRCh38:
Chr16:53622296
RPGRIP1LR1085C, R1119CMeckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7
Uncertain significance
(Sep 9, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr16:53721877
GRCh38:
Chr16:53687965
RPGRIP1LG177DMeckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7
Uncertain significance
(Mar 6, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr16:53679752-53679753
GRCh38:
Chr16:53645840-53645841
RPGRIP1LA823Lnot provided, Meckel syndrome, type 5, COACH syndrome 3,
Joubert syndrome 7, Meckel-Gruber syndrome, Familial aplasia of the vermis
Uncertain significance
(Jan 17, 2023)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr16:53692387
GRCh38:
Chr16:53658475
RPGRIP1LJoubert syndrome 7, Meckel syndrome, type 5Conflicting interpretations of pathogenicity
(Jul 30, 2021)		no assertion criteria provided
37.
GRCh37:
Chr16:53656064
GRCh38:
Chr16:53622152
RPGRIP1LJoubert syndrome 7, Meckel syndrome, type 5, not provided
Benign
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr16:53679698
GRCh38:
Chr16:53645786
RPGRIP1LH841RFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Benign/Likely benign
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr16:53686880
GRCh38:
Chr16:53652968
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr16:53690370
GRCh38:
Chr16:53656458
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(Oct 16, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr16:53639490
GRCh38:
Chr16:53605578
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr16:53726280
GRCh38:
Chr16:53692368
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3		Likely benign
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr16:53675206
GRCh38:
Chr16:53641294
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 7,
COACH syndrome 3, Meckel syndrome, type 5		Likely benign
(Apr 14, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:53686829
GRCh38:
Chr16:53652917
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(May 16, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr16:53726270
GRCh38:
Chr16:53692358
RPGRIP1LMeckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(May 16, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr16:53652928
GRCh38:
Chr16:53619016
RPGRIP1LMeckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:53679871
GRCh38:
Chr16:53645959
RPGRIP1LJoubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Likely benign
(Nov 24, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr16:53720415
GRCh38:
Chr16:53686503
RPGRIP1LJoubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Likely benign
(Jun 10, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr16:53686506
GRCh38:
Chr16:53652594
RPGRIP1LL698*Joubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Pathogenic/Likely pathogenic
(Aug 24, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr16:53692355
GRCh38:
Chr16:53658443
RPGRIP1LE458*Joubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided
Pathogenic/Likely pathogenic
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr16:53721878
GRCh38:
Chr16:53687966
RPGRIP1LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 7
Likely pathogenic
(Feb 2, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:53706779
GRCh38:
Chr16:53672867
RPGRIP1LMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Uncertain significance
(Aug 6, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr16:53653105
GRCh38:
Chr16:53619193
RPGRIP1LR1070W, R1104W, R1116W, R1150WMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr16:53682879
GRCh38:
Chr16:53648967
RPGRIP1LQ767HMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Uncertain significance
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr16:53686790
GRCh38:
Chr16:53652878
RPGRIP1LMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr16:53726205
GRCh38:
Chr16:53692293
RPGRIP1LR101QRPGRIP1L-related condition, not provided, Joubert syndrome 7,
COACH syndrome 3, Meckel syndrome, type 5, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Uncertain significance
(Jun 2, 2023)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr16:53690447
GRCh38:
Chr16:53656535
RPGRIP1LL546FMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr16:53690426
GRCh38:
Chr16:53656514
RPGRIP1LH553NFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 7,
Meckel syndrome, type 5, COACH syndrome 3		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:53708990
GRCh38:
Chr16:53675078
RPGRIP1LQ274LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 7,
Meckel syndrome, type 5, COACH syndrome 3		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:53639521
GRCh38:
Chr16:53605609
RPGRIP1LR1156H, R1190H, R1202H, R1236HRPGRIP1L-related condition, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Joubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Joubert syndrome 7		Uncertain significance
(Apr 18, 2023)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:53706801
GRCh38:
Chr16:53672889
RPGRIP1LS337FFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 7,
Meckel syndrome, type 5, COACH syndrome 3		Uncertain significance
(Feb 8, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr16:53683019
GRCh38:
Chr16:53649107
RPGRIP1LG721RMeckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Joubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3
Uncertain significance
(Feb 7, 2023)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr16:53675375-53675379
GRCh38:
Chr16:53641463-53641467
RPGRIP1LE898fsnot provided, Joubert syndrome 7, COACH syndrome 3,
Meckel syndrome, type 5		Pathogenic/Likely pathogenic
(Dec 1, 2021)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr16:53730149
GRCh38:
Chr16:53696237
RPGRIP1LE48DRPGRIP1L-related condition, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Inborn genetic diseases, Meckel syndrome, type 5, COACH syndrome 3,
Joubert syndrome 7		Uncertain significance
(Jul 11, 2023)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr16:53730088
GRCh38:
Chr16:53696176
RPGRIP1LR69CFamilial aplasia of the vermis, Meckel-Gruber syndrome, not provided,
RPGRIP1L-related condition, Meckel syndrome, type 5, COACH syndrome 3,
Joubert syndrome 7		Uncertain significance
(Mar 13, 2023)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr16:53709023
GRCh38:
Chr16:53675111
RPGRIP1LR263QMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3
Uncertain significance
(Jan 13, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr16:53708957
GRCh38:
Chr16:53675045
RPGRIP1LM285TFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3		Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr16:53706812
GRCh38:
Chr16:53672900
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr16:53698882
GRCh38:
Chr16:53664970
RPGRIP1LK381NMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Inborn genetic diseases		Uncertain significance
(Jun 21, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr16:53698871
GRCh38:
Chr16:53664959
RPGRIP1LL385RMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Feb 5, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr16:53690479
GRCh38:
Chr16:53656567
RPGRIP1LR535HMeckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7,
Familial aplasia of the vermis, Meckel-Gruber syndrome, RPGRIP1L-related condition
Uncertain significance
(Nov 23, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:53686661
GRCh38:
Chr16:53652749
RPGRIP1LMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(Aug 5, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr16:53679869
GRCh38:
Chr16:53645957
RPGRIP1LS784CMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3
Uncertain significance
(Jul 9, 2021)		criteria provided, single submitter
74.
GRCh37:
Chr16:53679812
GRCh38:
Chr16:53645900
RPGRIP1LQ803RMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3
Uncertain significance
(Aug 30, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr16:53675232
GRCh38:
Chr16:53641320
RPGRIP1LL947FMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Nov 8, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:53672306-53672308
GRCh38:
Chr16:53638394-53638396
RPGRIP1LP992delRPGRIP1L-related condition, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7
Uncertain significance
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:53639419
GRCh38:
Chr16:53605507
RPGRIP1LR1190K, R1224K, R1236K, R1270KMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3
Uncertain significance
(Oct 29, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr16:53690480
GRCh38:
Chr16:53656568
RPGRIP1LR535CMeckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7,
Inborn genetic diseases, RPGRIP1L-related condition, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Uncertain significance
(Jun 7, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr16:53692705
GRCh38:
Chr16:53658793
RPGRIP1LK443NMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Feb 10, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr16:53690452
GRCh38:
Chr16:53656540
RPGRIP1LY544CMeckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3,
Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr16:53644922
GRCh38:
Chr16:53611010
RPGRIP1LI1140V, I1174V, I1186V, I1220VInborn genetic diseases, RPGRIP1L-related condition, Familial aplasia of the vermis,
Meckel-Gruber syndrome, not provided, Meckel syndrome, type 5,
COACH syndrome 3, Joubert syndrome 7		Uncertain significance
(Mar 22, 2023)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr16:53671624
GRCh38:
Chr16:53637712
RPGRIP1LE1034G, E1068GRPGRIP1L-related condition, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7
Uncertain significance
(Sep 22, 2023)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr16:53671706
GRCh38:
Chr16:53637794
RPGRIP1LK1007*, K1041*Meckel syndrome, type 5, COACH syndrome 3, Joubert syndrome 7,
RPGRIP1L-related condition, Familial aplasia of the vermis, Meckel-Gruber syndrome
Pathogenic/Likely pathogenic
(Sep 14, 2023)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr16:53686800
GRCh38:
Chr16:53652888
RPGRIP1LL600*Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 7,
Meckel syndrome, type 5, COACH syndrome 3		Pathogenic/Likely pathogenic
(Jan 10, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr16:53705461
GRCh38:
Chr16:53671549
RPGRIP1LR355QJoubert syndrome 7, Meckel syndrome, type 5, COACH syndrome 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:53675352
GRCh38:
Chr16:53641440
RPGRIP1LA907SMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3		Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr16:53679746
GRCh38:
Chr16:53645834
RPGRIP1LH825RMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 5,
Joubert syndrome 7, COACH syndrome 3		Uncertain significance
(Feb 5, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr16:53692701
GRCh38:
Chr16:53658789
RPGRIP1LI445VMeckel-Gruber syndrome, Familial aplasia of the vermis, Inborn genetic diseases,
Meckel syndrome, type 5, Joubert syndrome 7, COACH syndrome 3
Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr16:53679660
GRCh38:
Chr16:53645748
RPGRIP1LR854*Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 7
Pathogenic/Likely pathogenic
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:53686795
GRCh38:
Chr16:53652883
RPGRIP1LR602*Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome and related disorders,
Joubert syndrome 7		Pathogenic/Likely pathogenic
(Dec 1, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr16:53720370
GRCh38:
Chr16:53686458
RPGRIP1LR251*RPGRIP1L-related condition, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Joubert syndrome and related disorders, Joubert syndrome 7		Pathogenic/Likely pathogenic
(Jun 25, 2023)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr16:53634712
GRCh38:
Chr16:53600800
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr16:53634119
GRCh38:
Chr16:53600207
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
94.
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
95.
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
96.
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
97.
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
98.
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
99.
GRCh37:
Chr16:53636033
GRCh38:
Chr16:53602121
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Mar 23, 2018)		criteria provided, single submitter
100.
GRCh37:
Chr16:53635935
GRCh38:
Chr16:53602023
RPGRIP1LNephronophthisis 8, Meckel syndrome, type 5, Joubert syndrome 7
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
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