| - GRCh37:
- ChrX:13775791
- GRCh38:
- ChrX:13757672
| OFD1 | P335L, P435L, P475L | Simpson-Golabi-Behmel syndrome type 2 | Uncertain significance
(Feb 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13757020
- GRCh38:
- ChrX:13738901
| OFD1 | L123P | Simpson-Golabi-Behmel syndrome type 2 | Uncertain significance
(Apr 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13785284
- GRCh38:
- ChrX:13767165
| OFD1 | E740*, E840*, E880* | Simpson-Golabi-Behmel syndrome type 2 | Likely pathogenic
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13779279
- GRCh38:
- ChrX:13761160
| OFD1 | R639K, R739K, R779K | Familial aplasia of the vermis, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10 | Uncertain significance
(Dec 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13765045-13765063
- GRCh38:
- ChrX:13746926-13746944
| OFD1 | L128fs, L268fs | Simpson-Golabi-Behmel syndrome type 2 | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13786900
- GRCh38:
- ChrX:13768781
| OFD1 | E858K, E958K, E998K | Familial aplasia of the vermis, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, Retinitis pigmentosa 23, Orofaciodigital syndrome I
| Benign/Likely benign
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13765039
- GRCh38:
- ChrX:13746920
| OFD1 | | Familial aplasia of the vermis, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, Retinitis pigmentosa 23, Orofaciodigital syndrome I
| Benign/Likely benign
(Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13774746
- GRCh38:
- ChrX:13756627
| OFD1 | N284S, N384S, N424S | Orofaciodigital syndrome I, Familial aplasia of the vermis, Joubert syndrome 10,
Orofaciodigital syndrome I, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2
| Benign/Likely benign
(May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13786361
- GRCh38:
- ChrX:13768242
| OFD1 | | Joubert syndrome 10, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Familial aplasia of the vermis, Orofaciodigital syndrome I
| Likely benign
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13753428
- GRCh38:
- ChrX:13735309
| LOC126863212, OFD1 | Q25R | Familial aplasia of the vermis, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Orofaciodigital syndrome I, Joubert syndrome 10
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13775857
- GRCh38:
- ChrX:13757738
| OFD1 | H497P, H357P, H457P | Familial aplasia of the vermis, Orofaciodigital syndrome I, Orofaciodigital syndrome I,
Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10,
Inborn genetic diseases | Uncertain significance
(May 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13775845
- GRCh38:
- ChrX:13757726
| OFD1 | I493T, I453T, I353T | Orofaciodigital syndrome I, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, Familial aplasia of the vermis, Orofaciodigital syndrome I
| Uncertain significance
(Nov 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13769399
- GRCh38:
- ChrX:13751280
| OFD1 | S183G, S323G | Orofaciodigital syndrome I, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, Orofaciodigital syndrome I, Familial aplasia of the vermis
| Uncertain significance
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13769457
- GRCh38:
- ChrX:13751338
| OFD1 | Y202C, Y342C | Orofaciodigital syndrome I, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, Orofaciodigital syndrome I, Familial aplasia of the vermis
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13769462
- GRCh38:
- ChrX:13751343
| OFD1 | R204*, R344* | Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10, not provided,
Familial aplasia of the vermis, Orofaciodigital syndrome I, Joubert syndrome 10
| Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:13778696
- GRCh38:
- ChrX:13760577
| OFD1 | T566I, T666I, T706I | Familial aplasia of the vermis, Orofaciodigital syndrome I, not provided,
Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10, Orofaciodigital syndrome I,
Retinitis pigmentosa 23 | Benign
(Apr 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13775753
- GRCh38:
- ChrX:13757634
| OFD1 | | Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10, Retinitis pigmentosa 23,
not provided, Orofaciodigital syndrome I | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13774887
- GRCh38:
- ChrX:13756768
| OFD1 | | Joubert syndrome 10, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2 | Pathogenic
(Jul 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13780572-13780577
- GRCh38:
- ChrX:13762453-13762458
| OFD1 | | Joubert syndrome 10, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Familial aplasia of the vermis, Orofaciodigital syndrome I
| Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13762615
- GRCh38:
- ChrX:13744496
| OFD1 | S165L, S25L | Familial aplasia of the vermis, Orofaciodigital syndrome I, Ciliary dyskinesia,
Inborn genetic diseases, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2,
Orofaciodigital syndrome I, Joubert syndrome 10 | Conflicting interpretations of pathogenicity
(Mar 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:13778851
- GRCh38:
- ChrX:13760732
| OFD1 | | Joubert syndrome 10, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Familial aplasia of the vermis, Orofaciodigital syndrome I
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13786920-13786921
- GRCh38:
- ChrX:13768801-13768802
| OFD1 | | Joubert syndrome 10, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Familial aplasia of the vermis, Orofaciodigital syndrome I
| Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13762651-13762652
- GRCh38:
- ChrX:13744532-13744533
| OFD1 | | Joubert syndrome 10, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Familial aplasia of the vermis, Orofaciodigital syndrome I
| Benign/Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13787209
- GRCh38:
- ChrX:13769090
| OFD1 | E1007D, E867D, E967D | Familial aplasia of the vermis, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Orofaciodigital syndrome I, Joubert syndrome 10, Retinitis pigmentosa 23
| Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13776502
- GRCh38:
- ChrX:13758383
| OFD1 | A490G, A530G, A390G | Orofaciodigital syndrome I, Familial aplasia of the vermis, Retinitis pigmentosa 23,
Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10
| Uncertain significance
(Nov 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13767656
- GRCh38:
- ChrX:13749537
| OFD1 | | Familial aplasia of the vermis, Orofaciodigital syndrome I, Orofaciodigital syndrome I,
Orofaciodigital syndrome I, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, not provided | Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13774822
- GRCh38:
- ChrX:13756703
| OFD1 | | Orofaciodigital syndrome I, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, not provided | Likely benign
(Oct 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13780539-13780541
- GRCh38:
- ChrX:13762420-13762422
| OFD1 | E683del, E783del, E823del | Simpson-Golabi-Behmel syndrome type 2, Familial aplasia of the vermis, Orofaciodigital syndrome I
| Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13775457
- GRCh38:
- ChrX:13757338
| OFD1 | | Simpson-Golabi-Behmel syndrome type 2 | Pathogenic
(Jan 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13754701
- GRCh38:
- ChrX:13736582
| OFD1 | | Orofaciodigital syndrome I, Joubert syndrome 10, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Familial aplasia of the vermis, Orofaciodigital syndrome I
| Likely benign
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13764932
- GRCh38:
- ChrX:13746813
| OFD1 | I230V, I90V | Joubert syndrome 10, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Retinitis pigmentosa 23, Familial aplasia of the vermis, Orofaciodigital syndrome I
| Benign/Likely benign
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13778814
- GRCh38:
- ChrX:13760695
| OFD1 | | Ciliary dyskinesia, Inborn genetic diseases, Orofaciodigital syndrome I,
Familial aplasia of the vermis, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Retinitis pigmentosa 23, Joubert syndrome 10, not provided
| Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13764522-13764527
- GRCh38:
- ChrX:13746403-13746408
| OFD1 | | Simpson-Golabi-Behmel syndrome type 2, Orofaciodigital syndrome I, Joubert syndrome 10
| Uncertain significance
(Dec 11, 2012) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13764974
- GRCh38:
- ChrX:13746855
| OFD1 | M244V, M104V | Simpson-Golabi-Behmel syndrome type 2, Retinitis pigmentosa 23, Joubert syndrome 10,
Orofaciodigital syndrome I, not provided | Uncertain significance
(May 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13778601
- GRCh38:
- ChrX:13760482
| OFD1 | H674Q, H534Q, H634Q | Simpson-Golabi-Behmel syndrome type 2, Retinitis pigmentosa 23, Joubert syndrome 10,
Orofaciodigital syndrome I, not provided | Uncertain significance
(Apr 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13764554
- GRCh38:
- ChrX:13746435
| OFD1 | R212W, R72W | History of neurodevelopmental disorder, Simpson-Golabi-Behmel syndrome type 2, Retinitis pigmentosa 23,
Joubert syndrome 10, Orofaciodigital syndrome I, Familial aplasia of the vermis,
Orofaciodigital syndrome I | Uncertain significance
(Nov 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13779240
- GRCh38:
- ChrX:13761121
| OFD1 | C766F, C726F, C626F | Ciliary dyskinesia, Inborn genetic diseases, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Orofaciodigital syndrome I, Joubert syndrome 10
| Uncertain significance
(Jul 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13756976
- GRCh38:
- ChrX:13738857
| OFD1 | M108I | Familial aplasia of the vermis, Orofaciodigital syndrome I, not provided,
not specified, Joubert syndrome 10, Orofaciodigital syndrome I,
Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2 | Conflicting interpretations of pathogenicity
(Aug 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:13780557
- GRCh38:
- ChrX:13762438
| OFD1 | F828V, F788V, F688V | Simpson-Golabi-Behmel syndrome type 2, Retinitis pigmentosa 23, Orofaciodigital syndrome I,
Joubert syndrome 10, not provided, Familial aplasia of the vermis,
Orofaciodigital syndrome I | Benign/Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13767609
- GRCh38:
- ChrX:13749490
| OFD1 | G298R, G158R | Familial aplasia of the vermis, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Joubert syndrome 10, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2
| Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:13775835
- GRCh38:
- ChrX:13757716
| OFD1 | E490K, E350K, E450K | Familial aplasia of the vermis, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, Retinitis pigmentosa 23, Orofaciodigital syndrome I
| Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13778273
- GRCh38:
- ChrX:13760154
| OFD1 | V565A, V425A, V525A | Orofaciodigital syndrome I, Familial aplasia of the vermis, Orofaciodigital syndrome I,
Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10,
Ciliary dyskinesia, Inborn genetic diseases | Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13754767
- GRCh38:
- ChrX:13736648
| OFD1 | | Orofaciodigital syndrome I, Familial aplasia of the vermis, Orofaciodigital syndrome I,
Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10
| Likely benign
(Nov 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13786819
- GRCh38:
- ChrX:13768700
| OFD1 | | Retinitis pigmentosa 23, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, not provided, Familial aplasia of the vermis,
Orofaciodigital syndrome I, not specified | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13776581
- GRCh38:
- ChrX:13758462
| OFD1 | | Familial aplasia of the vermis, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10,
not specified | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13769436-13769437
- GRCh38:
- ChrX:13751317-13751318
| OFD1 | S197fs, S337fs | Inborn genetic diseases, Ciliary dyskinesia, not provided,
Orofaciodigital syndrome I, Familial aplasia of the vermis, Simpson-Golabi-Behmel syndrome type 2
| Conflicting interpretations of pathogenicity
(Jun 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:13781959
- GRCh38:
- ChrX:13763840
| OFD1 | S862A, S822A, S722A | Inborn genetic diseases, Familial aplasia of the vermis, Orofaciodigital syndrome I,
Joubert syndrome 10, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, not specified | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:13774769
- GRCh38:
- ChrX:13756650
| OFD1 | K432E, K292E, K392E | Ciliary dyskinesia, Inborn genetic diseases, Orofaciodigital syndrome I,
Familial aplasia of the vermis, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Retinitis pigmentosa 23, Joubert syndrome 10, not specified,
not provided | Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13764958
- GRCh38:
- ChrX:13746839
| OFD1 | | Inborn genetic diseases, Ciliary dyskinesia, not specified,
Familial aplasia of the vermis, Orofaciodigital syndrome I, Joubert syndrome 10,
Orofaciodigital syndrome I, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13785309
- GRCh38:
- ChrX:13767190
| OFD1 | K888T, K848T, K748T | Ciliary dyskinesia, Inborn genetic diseases, Orofaciodigital syndrome I,
Familial aplasia of the vermis, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, Retinitis pigmentosa 23, not specified,
not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13771576
- GRCh38:
- ChrX:13753457
| OFD1 | | Familial aplasia of the vermis, Orofaciodigital syndrome I, not specified,
not provided, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, Orofaciodigital syndrome I | Benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13764945-13764946
- GRCh38:
- ChrX:13746826-13746827
| OFD1 | Y98fs, Y238fs | Orofaciodigital syndrome I, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, not provided, Orofaciodigital syndrome I
| Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13757136-13757139
- GRCh38:
- ChrX:13739017-13739020
| OFD1 | E134fs | Familial aplasia of the vermis, Orofaciodigital syndrome I, Orofaciodigital syndrome I,
Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10,
not provided, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, Joubert syndrome 10 ...see more | Pathogenic
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13778502
- GRCh38:
- ChrX:13760383
| OFD1 | | Inborn genetic diseases, Ciliary dyskinesia, Familial aplasia of the vermis,
Orofaciodigital syndrome I, Orofaciodigital syndrome I, Retinitis pigmentosa 23,
Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10, not specified,
not provided | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13754606
- GRCh38:
- ChrX:13736487
| OFD1 | R41* | Familial aplasia of the vermis, Orofaciodigital syndrome I, Orofaciodigital syndrome I,
Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2, Joubert syndrome 10
| Pathogenic
(Nov 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13773327-13773330
- GRCh38:
- ChrX:13755208-13755211
| OFD1 | Q358fs, Q398fs, Q258fs | Orofaciodigital syndrome I, Retinitis pigmentosa 23, Simpson-Golabi-Behmel syndrome type 2,
Joubert syndrome 10, not provided | Pathogenic
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:13778701-13778702
- GRCh38:
- ChrX:13760582-13760583
| OFD1 | N671fs, N571fs, N711fs | Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome type 2 | Pathogenic
(Feb 28, 2013) | no assertion criteria provided |