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Links from MedGen

Items: 1 to 100 of 194

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:15589547
GRCh38:
Chr4:15587924
CC2D2AP1343fs, P1392fsMeckel syndrome, type 6Pathogenic
(Jun 21, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr4:15542620
GRCh38:
Chr4:15540997
CC2D2AE673*, E722*Meckel syndrome, type 6Pathogenic
(Feb 2, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr4:15504044-15504045
GRCh38:
Chr4:15502421-15502422
CC2D2ARetinitis pigmentosa 93, COACH syndrome 2, Meckel syndrome, type 6,
Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr4:15518357
GRCh38:
Chr4:15516734
CC2D2AE327V, E376VFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Retinitis pigmentosa 93, Joubert syndrome 9, COACH syndrome 2
Uncertain significance
(Jun 17, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr4:15513005
GRCh38:
Chr4:15511382
CC2D2AE177K, E226KJoubert syndrome 9, COACH syndrome 1, Meckel syndrome, type 6,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr4:15602873
GRCh38:
Chr4:15601250
CC2D2AP1514R, P1563RMeckel syndrome, type 6, not providedUncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr4:15602845
GRCh38:
Chr4:15601222
CC2D2AMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 6,
Joubert syndrome 9, COACH syndrome 2, Retinitis pigmentosa 93
Likely benign
(Sep 30, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr4:15575941
GRCh38:
Chr4:15574318
CC2D2AR1206*, R1255*Meckel syndrome, type 6Pathogenic
(Feb 2, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr4:15517542
GRCh38:
Chr4:15515919
CC2D2AD262G, D311GMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 6,
Joubert syndrome 9, COACH syndrome 2, Retinitis pigmentosa 93,
not provided		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr4:15575718
GRCh38:
Chr4:15574095
CC2D2Anot provided, Meckel syndrome, type 6, Joubert syndrome 9
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr4:15480225
GRCh38:
Chr4:15478601
CC2D2AJoubert syndrome 9, Meckel syndrome, type 6, not provided
Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr4:15516398
GRCh38:
Chr4:15514775
CC2D2ARetinitis pigmentosa 93, COACH syndrome 2, Meckel syndrome, type 6,
Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome
Likely benign
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr4:15504102
GRCh38:
Chr4:15502479
CC2D2AM100L, M51LInborn genetic diseases, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not provided, Joubert syndrome 9, Meckel syndrome, type 6,
Retinitis pigmentosa 93, COACH syndrome 2		Uncertain significance
(May 9, 2023)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr4:15597698-15597701
GRCh38:
Chr4:15596075-15596078
CC2D2AMeckel syndrome, type 6, not provided, Meckel-Gruber syndrome,
Familial aplasia of the vermis		Conflicting interpretations of pathogenicity
(Jul 22, 2022)		criteria provided, conflicting interpretations
15.
Leber congenital amaurosisPathogenic
(Jul 6, 2020)		criteria provided, single submitter
16.
GRCh37:
Chr4:15559104
GRCh38:
Chr4:15557481
CC2D2AR886*, R935*Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Joubert syndrome 9, Meckel syndrome, type 6, COACH syndrome 2,
Retinitis pigmentosa 93		Pathogenic
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr12:124172694-124172695
GRCh38:
Chr12:123688147-123688148
TCTN2V287fs, V288fsMeckel syndrome, type 6Likely pathogeniccriteria provided, single submitter
18.
GRCh37:
Chr12:124179816-124179817
GRCh38:
Chr12:123695269-123695270
TCTN2N428fs, N429fsMeckel syndrome, type 6Likely pathogeniccriteria provided, single submitter
19.
GRCh37:
Chr4:15601210
GRCh38:
Chr4:15599587
CC2D2AW1470R, W1519RMeckel syndrome, type 6Likely pathogenic
(Dec 24, 2019)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:15587796
GRCh38:
Chr4:15586173
CC2D2AY1282C, Y1331CMeckel syndrome, type 6Likely pathogeniccriteria provided, single submitter
21.
GRCh37:
Chr12:88477722
GRCh38:
Chr12:88083945
CEP290E1572KJoubert syndrome 5, Meckel syndrome, type 6Pathogenic/Likely pathogeniccriteria provided, single submitter
22.
GRCh37:
Chr4:15559029
GRCh38:
Chr4:15557406
CC2D2AR861*, R910*not provided, Meckel syndrome, type 6, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Pathogenic
(Aug 28, 2023)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr4:15569024-15569033
GRCh38:
Chr4:15567401-15567410
CC2D2AR1022fs, R1071fsCOACH syndrome 1, Meckel syndrome, type 6, Joubert syndrome 9
Likely pathogenic
(May 8, 2020)		criteria provided, single submitter
24.
GRCh37:
Chr4:15511826
GRCh38:
Chr4:15510203
CC2D2AF119S, F168SFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6
Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr4:15539751
GRCh38:
Chr4:15538128
CC2D2AQ616R, Q665RMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 6,
Retinitis pigmentosa 93, Joubert syndrome 9, COACH syndrome 2
Uncertain significance
(Aug 6, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr4:15554779
GRCh38:
Chr4:15553156
CC2D2AMeckel syndrome, type 6Likely pathogenicno assertion criteria provided
27.
GRCh37:
Chr4:15601186
GRCh38:
Chr4:15599563
CC2D2AW1462R, W1511Rnot provided, Meckel syndrome, type 6Pathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr4:15556750
GRCh38:
Chr4:15555127
CC2D2AM799V, M848VMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr4:15556724
GRCh38:
Chr4:15555101
CC2D2AS790F, S839FFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9		Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr4:15539712
GRCh38:
Chr4:15538089
CC2D2AP603L, P652LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr4:15512892
GRCh38:
Chr4:15511269
CC2D2AA188V, A139VFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr4:15511774
GRCh38:
Chr4:15510151
CC2D2AV151L, V102LMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr4:15556689
GRCh38:
Chr4:15555066
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr4:15518237
GRCh38:
Chr4:15516614
CC2D2AFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9		Conflicting interpretations of pathogenicity
(Apr 12, 2022)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr4:15601215
GRCh38:
Chr4:15599592
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
36.
GRCh37:
Chr4:15539616
GRCh38:
Chr4:15537993
CC2D2AS620N, S571NMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr4:15603192
GRCh38:
Chr4:15601569
CC2D2AJoubert syndrome 9, Meckel syndrome, type 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr4:15504062
GRCh38:
Chr4:15502439
CC2D2AFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9		Conflicting interpretations of pathogenicity
(Jun 1, 2022)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr4:15560840
GRCh38:
Chr4:15559217
CC2D2AI912T, I961TFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9		Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr4:15538665
GRCh38:
Chr4:15537042
CC2D2AS577L, S528LFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9, Inborn genetic diseases		Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr4:15603142
GRCh38:
Chr4:15601519
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr4:15587826
GRCh38:
Chr4:15586203
CC2D2AT1292S, T1341SFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9		Uncertain significance
(May 9, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr4:15569089
GRCh38:
Chr4:15567466
CC2D2AD1042V, D1091VMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 22, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr4:15471653
GRCh38:
Chr4:15470029
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr4:15471613
GRCh38:
Chr4:15469989
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr4:15558940
GRCh38:
Chr4:15557317
CC2D2AG880D, G831DFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Inborn genetic diseases, Joubert syndrome 9		Uncertain significance
(Feb 28, 2023)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr4:15538637
GRCh38:
Chr4:15537014
CC2D2AA568T, A519TFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9,
Meckel syndrome, type 6		Conflicting interpretations of pathogenicity
(Feb 10, 2022)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr4:15569336
GRCh38:
Chr4:15567713
CC2D2AR1109*, R1060*Meckel syndrome, type 6, Joubert syndrome 9, COACH syndrome 2,
Retinitis pigmentosa 93, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not provided, Neurodevelopmental disorder		Pathogenic/Likely pathogenic
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr4:15589461
GRCh38:
Chr4:15587838
CC2D2AG1363V, G1314VMeckel syndrome, type 6Likely pathogeniccriteria provided, single submitter
50.
GRCh37:
Chr4:15601210
GRCh38:
Chr4:15599587
CC2D2AW1519G, W1470GMeckel syndrome, type 6Likely pathogeniccriteria provided, single submitter
51.
GRCh37:
Chr4:15554879
GRCh38:
Chr4:15553256
CC2D2AG813R, G764RFamilial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9,
Meckel syndrome, type 6		Uncertain significance
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr4:15552588
GRCh38:
Chr4:15550965
CC2D2AE775K, E726KMeckel syndrome, type 6, COACH syndrome 1, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Joubert syndrome 9		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr4:15516363
GRCh38:
Chr4:15514740
CC2D2AE251K, E202KJoubert syndrome 9, Meckel syndrome, type 6, Inborn genetic diseases,
Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided
Conflicting interpretations of pathogenicity
(Mar 17, 2023)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr4:15565139
GRCh38:
Chr4:15563516
CC2D2AA1059E, A1010EFamilial aplasia of the vermis, Meckel-Gruber syndrome, not provided,
Joubert syndrome 9, Meckel syndrome, type 6		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr4:15552584
GRCh38:
Chr4:15550961
CC2D2AFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9, not provided		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr4:15556768
GRCh38:
Chr4:15555145
CC2D2AW854G, W805GFamilial aplasia of the vermis, Meckel-Gruber syndrome, not provided,
Joubert syndrome 9, COACH syndrome 2, Meckel syndrome, type 6,
Retinitis pigmentosa 93		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr4:15529217-15529219
GRCh38:
Chr4:15527594-15527596
CC2D2AQ433fs, Q384fsnot provided, Retinitis pigmentosa 93, Joubert syndrome 9,
COACH syndrome 2, Meckel syndrome, type 6		Pathogenic/Likely pathogenic
(Dec 1, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr4:15565084-15565085
GRCh38:
Chr4:15563461-15563462
CC2D2AI1041fs, I992fsJoubert syndrome 9, Meckel syndrome, type 6, COACH syndrome 1
Likely pathogenic
(Aug 7, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr4:15575929
GRCh38:
Chr4:15574306
CC2D2AG1251R, G1202RMeckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Retinitis pigmentosa 93, Joubert syndrome 9, COACH syndrome 2,
Meckel syndrome, type 6, Inborn genetic diseases		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr4:15517532
GRCh38:
Chr4:15515909
CC2D2AF308L, F259Lnot specified, Meckel syndrome, type 6, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Joubert syndrome 9		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr4:15591226
GRCh38:
Chr4:15589603
CC2D2AC1413Y, C1364YMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 6,
Joubert syndrome 9, not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 12, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr4:15539574
GRCh38:
Chr4:15537951
CC2D2AE606V, E557Vnot provided, Retinitis pigmentosa 93, COACH syndrome 2,
Meckel syndrome, type 6, Joubert syndrome 9		Uncertain significance
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr4:15539587
GRCh38:
Chr4:15537964
CC2D2Anot provided, not specified, Joubert syndrome 9,
Meckel syndrome, type 6, Meckel-Gruber syndrome, Familial aplasia of the vermis
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr4:15539703
GRCh38:
Chr4:15538080
CC2D2AT649M, T600MFamilial aplasia of the vermis, Meckel-Gruber syndrome, not provided,
Joubert syndrome 9, Meckel syndrome, type 6, COACH syndrome 1,
Meckel syndrome, type 6, Joubert syndrome 9		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr4:15562222-15562224
GRCh38:
Chr4:15560599-15560601
CC2D2AE1000del, E951delMeckel-Gruber syndrome, Familial aplasia of the vermis, Inborn genetic diseases,
not provided, Joubert syndrome 9, Meckel syndrome, type 6,
COACH syndrome 2, Retinitis pigmentosa 93, Joubert syndrome 9
Uncertain significance
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr4:15517580
GRCh38:
Chr4:15515957
CC2D2AR324C, R275Cnot provided, Meckel syndrome, type 6, Joubert syndrome 9,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr4:15556832
GRCh38:
Chr4:15555209
CC2D2AS875L, S826Lnot provided, Joubert syndrome 9, Meckel syndrome, type 6,
COACH syndrome 1, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Joubert syndrome 9, Meckel syndrome, type 6		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr4:15581702
GRCh38:
Chr4:15580079
CC2D2AG1295R, G1246Rnot provided, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Joubert syndrome 9, Meckel syndrome, type 6		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr4:15581688
GRCh38:
Chr4:15580065
CC2D2AV1290A, V1241AJoubert syndrome 9, Meckel syndrome, type 6, COACH syndrome 1,
Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided
Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr4:15602914
GRCh38:
Chr4:15601291
CC2D2AA1577T, A1528TInborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not provided, Meckel syndrome, type 6, Joubert syndrome 9,
Retinitis pigmentosa 93, COACH syndrome 2		Conflicting interpretations of pathogenicity
(May 12, 2023)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr4:15534833
GRCh38:
Chr4:15533210
CC2D2AR495H, R446Hnot specified, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not provided, Meckel syndrome, type 6, Joubert syndrome 9
Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr4:15504488
GRCh38:
Chr4:15502865
CC2D2AR127Q, R78QMeckel syndrome, type 6, Joubert syndrome 9, not provided,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Feb 14, 2023)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr4:15565098
GRCh38:
Chr4:15563475
CC2D2Anot provided, Meckel-Gruber syndrome, Familial aplasia of the vermis,
COACH syndrome 1, Joubert syndrome 9, Meckel syndrome, type 6
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr4:15603093
GRCh38:
Chr4:15601470
CC2D2AJoubert syndrome 9, Meckel syndrome, type 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr4:15602873
GRCh38:
Chr4:15601250
CC2D2AP1563L, P1514LCC2D2A-Related Disorders, Joubert syndrome 9, Meckel syndrome, type 6
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr4:15602848
GRCh38:
Chr4:15601225
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr4:15601314
GRCh38:
Chr4:15599691
CC2D2AQ1553H, Q1504HCC2D2A-Related Disorders, Meckel syndrome, type 6, Joubert syndrome 9,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Inborn genetic diseases,
not provided		Uncertain significance
(May 16, 2023)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr4:15599034
GRCh38:
Chr4:15597411
CC2D2AE1481A, E1432AMeckel syndrome, type 6, Inborn genetic diseases, Joubert syndrome 9
Uncertain significance
(Apr 5, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr4:15591190
GRCh38:
Chr4:15589567
CC2D2AT1401S, T1352SMeckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr4:15589471
GRCh38:
Chr4:15587848
CC2D2AE1366D, E1317DJoubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Meckel syndrome, type 6		Conflicting interpretations of pathogenicity
(Jul 26, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr4:15575848
GRCh38:
Chr4:15574225
CC2D2AR1224W, R1175WMeckel syndrome, type 6, CC2D2A-Related Disorders, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Joubert syndrome 9, Inborn genetic diseases
Uncertain significance
(Jul 15, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr4:15572049
GRCh38:
Chr4:15570426
CC2D2AH1175R, H1126RMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr4:15572024
GRCh38:
Chr4:15570401
CC2D2AD1167N, D1118NMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr4:15570901
GRCh38:
Chr4:15569278
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9, CC2D2A-Related Disorders,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr4:15569422
GRCh38:
Chr4:15567799
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr4:15569416
GRCh38:
Chr4:15567793
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9, CC2D2A-Related Disorders,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr4:15569017
GRCh38:
Chr4:15567394
CC2D2AS1067L, S1018LMeckel syndrome, type 6, Joubert syndrome 9, CC2D2A-Related Disorders,
not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(May 12, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr4:15560802
GRCh38:
Chr4:15559179
CC2D2Anot provided, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Meckel syndrome, type 6, Joubert syndrome 9		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr4:15559035
GRCh38:
Chr4:15557412
CC2D2AR912G, R863GJoubert syndrome 9, CC2D2A-Related Disorders, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Meckel syndrome, type 6		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr4:15559032
GRCh38:
Chr4:15557409
CC2D2AF911L, F862Lnot provided, Meckel syndrome, type 6, CC2D2A-Related Disorders,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9
Conflicting interpretations of pathogenicity
(Oct 16, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr4:15556805
GRCh38:
Chr4:15555182
CC2D2AN866S, N817SInborn genetic diseases, not provided, CC2D2A-Related Disorders,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9		Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr4:15556734
GRCh38:
Chr4:15555111
CC2D2AMeckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Mar 10, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr4:15554937
GRCh38:
Chr4:15553314
CC2D2ACC2D2A-Related Disorders, Meckel syndrome, type 6, Joubert syndrome 9
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr4:15554924
GRCh38:
Chr4:15553301
CC2D2AR828W, R779Wnot provided, Meckel syndrome, type 6, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Joubert syndrome 9		Uncertain significance
(Aug 14, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr4:15542589
GRCh38:
Chr4:15540966
CC2D2AQ711H, Q662HMeckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Uncertain significance
(Jun 8, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr4:15542512
GRCh38:
Chr4:15540889
CC2D2AV686M, V637MInborn genetic diseases, Meckel syndrome, type 6, Joubert syndrome 9,
CC2D2A-Related Disorders, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not provided		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr4:15539710
GRCh38:
Chr4:15538087
CC2D2AFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6,
Joubert syndrome 9, CC2D2A-Related Disorders, not provided
Conflicting interpretations of pathogenicity
(Oct 9, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr4:15539704
GRCh38:
Chr4:15538081
CC2D2AFamilial aplasia of the vermis, Meckel-Gruber syndrome, CC2D2A-Related Disorders,
Joubert syndrome 9, Meckel syndrome, type 6		Conflicting interpretations of pathogenicity
(May 14, 2020)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr4:15539703
GRCh38:
Chr4:15538080
CC2D2AT649R, T600RMeckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Oct 3, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr4:15539637
GRCh38:
Chr4:15538014
CC2D2AR627Q, R578QInborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not provided, Intellectual disability, CC2D2A-Related Disorders,
Joubert syndrome 9, Meckel syndrome, type 6		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
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