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Items: 1 to 100 of 146

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr17:56283869
GRCh38:
Chr17:58206508
MKS1T280P, T483PJoubert syndrome 28, Bardet-Biedl syndrome 13, Meckel syndrome, type 1,
Inborn genetic diseases		Uncertain significance
(Jun 22, 2023)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr17:56292278
GRCh38:
Chr17:58214917
MKS1Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28
Uncertain significance
(Nov 4, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr17:56293470
GRCh38:
Chr17:58216109
MKS1D132EMeckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28
Uncertain significance
(Mar 14, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr17:56285468
GRCh38:
Chr17:58208107
MKS1S185Y, S388YMeckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28
Uncertain significance
(May 6, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr17:56283840
Chr17:56285514-56285516
GRCh38:
Chr17:58206479
Chr17:58208153-58208155
MKS1, MKS1C492W, C289W, S372del, S169delBardet-Biedl syndrome 13Likely pathogenic
(Nov 29, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr17:56284470
GRCh38:
Chr17:58207109
MKS1Y258*, Y461*Bardet-Biedl syndrome 13, Joubert syndrome 28, Meckel syndrome, type 1
Likely pathogenic
(Jan 2, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr17:56288052
GRCh38:
Chr17:58210691
MKS1Y128fs, Y331fsBardet-Biedl syndrome 13, Joubert syndrome 28, Meckel syndrome, type 1
Likely pathogenic
(Dec 21, 2021)		criteria provided, single submitter
8.
GRCh37:
Chr17:56288352-56288353
GRCh38:
Chr17:58210991-58210992
MKS1N113fs, N316fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(Dec 16, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr17:56290369
GRCh38:
Chr17:58213008
MKS1E278*, E75*Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(May 8, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr17:56291147-56291148
GRCh38:
Chr17:58213786-58213787
MKS1T243fs, T40fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(May 4, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr17:56291159-56291160
GRCh38:
Chr17:58213798-58213799
MKS1K239fs, K36fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(May 4, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr17:56283836
GRCh38:
Chr17:58206475
MKS1Q291*, Q494*Meckel syndrome, type 1, Joubert syndrome 28, Bardet-Biedl syndrome 13,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1
Pathogenic/Likely pathogenic
(Feb 23, 2023)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr17:56290419
GRCh38:
Chr17:58213058
MKS1W261*, W58*Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(Dec 1, 2021)		criteria provided, single submitter
14.
GRCh37:
Chr17:56288035
GRCh38:
Chr17:58210674
MKS1E134*, E337*Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(Mar 9, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr17:56285934-56285937
GRCh38:
Chr17:58208573-58208576
MKS1S142fs, S345fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(Mar 5, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr17:56292182
GRCh38:
Chr17:58214821
MKS1T146fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(Mar 4, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr17:56291726-56291727
GRCh38:
Chr17:58214365-58214366
MKS1R180fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(Mar 3, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr17:56294047
GRCh38:
Chr17:58216686
MKS1Q81*Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28
Likely pathogenic
(Feb 17, 2022)		criteria provided, single submitter
19.
GRCh37:
Chr17:56288350
GRCh38:
Chr17:58210989
MKS1G114*, G317*Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28
Likely pathogenic
(Feb 12, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr17:56283904-56283905
GRCh38:
Chr17:58206543-58206544
MKS1E268fs, E471fsBardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28
Likely pathogenic
(Feb 8, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr17:56291631-56291632
GRCh38:
Chr17:58214270-58214271
MKS1G211fs, G8fsBardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28
Likely pathogenic
(Jan 17, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr17:56285898
GRCh38:
Chr17:58208537
MKS1C155fs, C358fsBardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Pathogenic/Likely pathogenic
(May 1, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr17:56291217
GRCh38:
Chr17:58213856
MKS1K17*, K220*Meckel-Gruber syndrome, Familial aplasia of the vermis, Bardet-Biedl syndrome 13,
Meckel syndrome, type 1, Joubert syndrome 28		Pathogenic/Likely pathogenic
(Dec 29, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr17:56285254
GRCh38:
Chr17:58207893
MKS1Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1
Pathogenic/Likely pathogenic
(May 2, 2023)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:56290410
GRCh38:
Chr17:58213049
MKS1T264M, T61MMeckel syndrome, type 1, Joubert syndrome 28, Bardet-Biedl syndrome 13,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Jun 16, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:56288344
GRCh38:
Chr17:58210983
MKS1V116I, V319IMeckel syndrome, type 1, Joubert syndrome 28, Bardet-Biedl syndrome 13,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr17:56296841
GRCh38:
Chr17:58219480
MKS1Bardet-Biedl syndrome 13Uncertain significance
(Apr 24, 2020)		criteria provided, single submitter
28.
GRCh37:
Chr17:56285306
GRCh38:
Chr17:58207945
MKS1Q408*, Q205*Meckel syndrome, type 1, Joubert syndrome 28, Bardet-Biedl syndrome 13,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Pathogenic/Likely pathogenic
(Jul 23, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:56283507
GRCh38:
Chr17:58206146
MKS1R538H, R335HInborn genetic diseases, Meckel syndrome, type 1, Joubert syndrome 28,
Bardet-Biedl syndrome 13, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not provided		Uncertain significance
(Aug 14, 2023)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:56296582
GRCh38:
Chr17:58219221
LOC130061271, MKS1T4SMKS1-related condition, Meckel syndrome, type 1, Bardet-Biedl syndrome 13,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Aug 30, 2023)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr17:56283923
GRCh38:
Chr17:58206562
MKS1Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr17:56283025
GRCh38:
Chr17:58205664
MKS1Meckel syndrome, type 1, Bardet-Biedl syndrome 13Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr17:56282968
GRCh38:
Chr17:58205607
MKS1Meckel syndrome, type 1, Bardet-Biedl syndrome 13Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr17:56283534
GRCh38:
Chr17:58206173
MKS1Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:56282846
GRCh38:
Chr17:58205485
MKS1Meckel syndrome, type 1, Bardet-Biedl syndrome 13Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr17:56282837
GRCh38:
Chr17:58205476
MKS1Meckel syndrome, type 1, Bardet-Biedl syndrome 13Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr17:56283522
GRCh38:
Chr17:58206161
MKS1R533H, R330HFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:56283391
GRCh38:
Chr17:58206030
MKS1S549YMKS1-related condition, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Uncertain significance
(Jul 17, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr17:56293459
GRCh38:
Chr17:58216098
MKS1N136TFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Uncertain significance
(Mar 19, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:56292170
GRCh38:
Chr17:58214809
MKS1Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Uncertain significance
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:56296611
GRCh38:
Chr17:58219250
LOC130061271, MKS1Bardet-Biedl syndrome 13, Meckel syndrome, type 1Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr17:56296606
GRCh38:
Chr17:58219245
LOC130061271, MKS1Bardet-Biedl syndrome 13, Meckel syndrome, type 1Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr17:56292119
GRCh38:
Chr17:58214758
MKS1Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr17:56285251
GRCh38:
Chr17:58207890
MKS1Meckel syndrome, type 1, Bardet-Biedl syndrome 13Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr17:56285243
GRCh38:
Chr17:58207882
MKS1Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr17:56283306
GRCh38:
Chr17:58205945
MKS1Meckel syndrome, type 1, not provided, Bardet-Biedl syndrome 13
Conflicting interpretations of pathogenicity
(Jan 1, 2023)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr17:56293544
GRCh38:
Chr17:58216183
MKS1R108CBardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28,
MKS1-related condition, not provided, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Jan 29, 2023)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr17:56291146
GRCh38:
Chr17:58213785
MKS1Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Oct 7, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr17:56285319
GRCh38:
Chr17:58207958
MKS1Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Aug 9, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr17:56287892
GRCh38:
Chr17:58210531
MKS1not provided, Joubert syndrome 28, Bardet-Biedl syndrome 13
Benign
(Jun 10, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr17:56293960
GRCh38:
Chr17:58216599
MKS1Joubert syndrome 28, not provided, Bardet-Biedl syndrome 13
Benign
(Jun 10, 2021)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:56290556
GRCh38:
Chr17:58213195
MKS1Joubert syndrome 28, not provided, Bardet-Biedl syndrome 13
Benign
(Jun 10, 2021)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr17:56290388
GRCh38:
Chr17:58213027
MKS1H271Q, H68QMeckel syndrome, type 1, Bardet-Biedl syndrome 13, Inborn genetic diseases,
Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided
Uncertain significance
(Mar 24, 2023)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:56284528
GRCh38:
Chr17:58207167
MKS1V442G, V239GMeckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28,
not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Feb 10, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr17:56283851
GRCh38:
Chr17:58206490
MKS1R489C, R286CBardet-Biedl syndrome 13, Joubert syndrome 28, Meckel syndrome, type 1,
not provided		Uncertain significance
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr17:56291147
GRCh38:
Chr17:58213786
MKS1T243M, T40MFamilial aplasia of the vermis, Meckel-Gruber syndrome, not provided,
Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Uncertain significance
(Aug 5, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:56296591
GRCh38:
Chr17:58219230
LOC130061271, MKS1M1VJoubert syndrome 28, Bardet-Biedl syndrome 13, Meckel syndrome, type 1
Likely pathogenic
(Jun 1, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr17:56285260
GRCh38:
Chr17:58207899
MKS1T423I, T220IJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Uncertain significance
(May 11, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr17:56296603-56296625
GRCh38:
Chr17:58219242-58219264
LOC130061271, MKS1Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28
Uncertain significance
(Apr 9, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr17:56283854-56283882
GRCh38:
Chr17:58206493-58206521
MKS1R276fs, R479fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(Apr 12, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr17:56285364
GRCh38:
Chr17:58208003
MKS1Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely pathogenic
(Jan 22, 2020)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:56283910
GRCh38:
Chr17:58206549
MKS1Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28
Likely pathogenic
(Feb 16, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr17:56290342
GRCh38:
Chr17:58212981
MKS1Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28,
Joubert syndrome 28		Conflicting interpretations of pathogenicity
(Nov 30, 2020)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr17:56284539-56284565
GRCh38:
Chr17:58207178-58207204
MKS1Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Uncertain significance
(Jan 23, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr17:56290366-56290367
GRCh38:
Chr17:58213005-58213006
MKS1Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Uncertain significance
(Dec 18, 2017)		criteria provided, single submitter
66.
GRCh37:
Chr17:56283735
GRCh38:
Chr17:58206374
MKS1F296fs, F499fs, S427fs, H472fsBardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28,
not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome
Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr17:56284441-56284443
GRCh38:
Chr17:58207080-58207082
MKS1Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Uncertain significance
(Nov 13, 2017)		criteria provided, single submitter
68.
GRCh37:
Chr17:56283506
GRCh38:
Chr17:58206145
MKS1M336fs, H511fs, M539fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Uncertain significance
(Nov 9, 2017)		criteria provided, single submitter
69.
GRCh37:
Chr17:56290372
GRCh38:
Chr17:58213011
MKS1E277*, E74*Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1
Pathogenic/Likely pathogenic
(Nov 17, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:56283520
GRCh38:
Chr17:58206159
MKS1R534*, S506L, R331*Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr17:56292100
GRCh38:
Chr17:58214739
MKS1Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28
Likely pathogenic
(Sep 11, 2017)		criteria provided, single submitter
72.
GRCh37:
Chr17:56284508-56284522
GRCh38:
Chr17:58207147-58207161
MKS1Joubert syndrome 28, Bardet-Biedl syndrome 13, Meckel syndrome, type 1
Uncertain significance
(Jul 18, 2017)		criteria provided, single submitter
73.
GRCh37:
Chr17:56283698-56283701
GRCh38:
Chr17:58206337-58206340
MKS1S511fs, E483fs, C440fs, S308fsnot specified, Meckel syndrome, type 1, Bardet-Biedl syndrome 13,
Joubert syndrome 28, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:56285888-56285890
GRCh38:
Chr17:58208527-58208529
MKS1T360del, T157delJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Uncertain significance
(May 3, 2017)		criteria provided, single submitter
75.
GRCh37:
Chr17:56283499
GRCh38:
Chr17:58206138
MKS1E541*, G513V, E338*Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:56295979
GRCh38:
Chr17:58218618
MKS1Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28,
not provided, Joubert syndrome 28, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Meckel syndrome, type 1		Likely pathogenic
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:56290438
GRCh38:
Chr17:58213077
MKS1G255R, G52RFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
MKS1-related condition, Joubert syndrome 28, Bardet-Biedl syndrome 13,
not provided		Uncertain significance
(Apr 4, 2023)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr17:56283688
GRCh38:
Chr17:58206327
MKS1R515H, R312H, V443IBardet-Biedl syndrome 13, Joubert syndrome 28, Meckel syndrome, type 1,
MKS1-related condition, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not provided		Uncertain significance
(Jul 18, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:56285315
GRCh38:
Chr17:58207954
MKS1D405N, D202NMeckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr17:56285518
GRCh38:
Chr17:58208157
MKS1F371L, F168LMeckel-Gruber syndrome, Familial aplasia of the vermis, Bardet-Biedl syndrome 13,
not provided		Uncertain significance
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:56290344
GRCh38:
Chr17:58212983
MKS1D286G, D83GMeckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28,
MKS1-related condition, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Meckel syndrome, type 1, not provided, not specified,
Bardet-Biedl syndrome 13		Uncertain significance
(Aug 16, 2023)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr17:56291726
GRCh38:
Chr17:58214365
MKS1R180CBardet-Biedl syndrome 13, not specified, not provided,
Meckel syndrome, type 1, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:56284459
GRCh38:
Chr17:58207098
MKS1P262fs, P465fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13,
Meckel syndrome, type 1, Joubert syndrome 28, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Bardet-Biedl syndrome 13		Pathogenic/Likely pathogenic
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr17:56293498-56293499
GRCh38:
Chr17:58216137-58216138
MKS1R123fsJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Likely pathogenic
(Nov 2, 2016)		criteria provided, single submitter
85.
GRCh37:
Chr17:56296655
GRCh38:
Chr17:58219294
LOC130061271, MKS1not provided, Meckel syndrome, type 1, Bardet-Biedl syndrome 13
Conflicting interpretations of pathogenicity
(Aug 17, 2018)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr17:56296565
GRCh38:
Chr17:58219204
LOC130061271, MKS1Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Meckel syndrome, type 1, Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr17:56296498
GRCh38:
Chr17:58219137
LOC130061271, MKS1Meckel syndrome, type 1, Joubert syndrome 28, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Feb 20, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr17:56296069
GRCh38:
Chr17:58218708
MKS1Meckel syndrome, type 1, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Aug 3, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr17:56294074
GRCh38:
Chr17:58216713
MKS1E72KJoubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13,
Meckel-Gruber syndrome, Bardet-Biedl syndrome		Uncertain significance
(Aug 18, 2017)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:56293603
GRCh38:
Chr17:58216242
MKS1F88SMeckel syndrome, type 1, Bardet-Biedl syndrome 13, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Uncertain significance
(May 9, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:56292126
GRCh38:
Chr17:58214765
MKS1R164Hnot provided, Bardet-Biedl syndrome 13, MKS1-related condition,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1
Conflicting interpretations of pathogenicity
(Jun 30, 2023)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr17:56291612
GRCh38:
Chr17:58214251
MKS1Bardet-Biedl syndrome 13, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not provided, Meckel syndrome, type 1		Conflicting interpretations of pathogenicity
(Sep 1, 2023)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr17:56291146
GRCh38:
Chr17:58213785
MKS1Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1,
Bardet-Biedl syndrome 13		Conflicting interpretations of pathogenicity
(Jun 20, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr17:56290438
GRCh38:
Chr17:58213077
MKS1G255W, G52WMeckel syndrome, type 1, Bardet-Biedl syndrome 13, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Uncertain significance
(Aug 30, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr17:56290388
GRCh38:
Chr17:58213027
MKS1Bardet-Biedl syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13,
Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided
Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr17:56285275
GRCh38:
Chr17:58207914
MKS1V418A, V215ABardet-Biedl syndrome 13, Meckel syndrome, type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr17:56284531
GRCh38:
Chr17:58207170
MKS1T441M, T238MBardet-Biedl syndrome 13, MKS1-related condition, Meckel syndrome, type 1,
Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
not provided		Conflicting interpretations of pathogenicity
(Jul 20, 2023)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr17:56283689
GRCh38:
Chr17:58206328
MKS1R515C, P487L, R312CFamilial aplasia of the vermis, Meckel-Gruber syndrome, not provided,
Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28,
Meckel syndrome, type 1, Bardet-Biedl syndrome 13		Uncertain significance
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr17:56283365
GRCh38:
Chr17:58206004
MKS1R558CBardet-Biedl syndrome 13, not provided, Meckel syndrome, type 1
Benign
(Jun 16, 2018)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr17:56283118
GRCh38:
Chr17:58205757
MKS1Bardet-Biedl syndrome 13, Meckel syndrome, type 1, not provided
Conflicting interpretations of pathogenicity
(Oct 1, 2023)		criteria provided, conflicting interpretations
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