| - GRCh37:
- Chr14:88852163-88904766
| SPATA7 | | Leber congenital amaurosis 3 | Pathogenic
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88903867-88904766
| SPATA7 | | Leber congenital amaurosis 3 | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88391407-89343754
| EML5, GALC, GPR65, KCNK10, PTPN21, SPATA7, TTC8, ZC3H14 | | Leber congenital amaurosis 3 | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88895719
- GRCh38:
- Chr14:88429375
| SPATA7 | K282E, K314E | Leber congenital amaurosis 3 | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892767
- GRCh38:
- Chr14:88426423
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904676
- GRCh38:
- Chr14:88438332
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904218
- GRCh38:
- Chr14:88437874
| SPATA7 | D418N, D386N | Leber congenital amaurosis 3 | Uncertain significance
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904587
- GRCh38:
- Chr14:88438243
| SPATA7 | I541V, I509V | Leber congenital amaurosis 3 | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892959
- GRCh38:
- Chr14:88426615
| SPATA7 | F220L, F252L | Leber congenital amaurosis 3 | Uncertain significance
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88859788
- GRCh38:
- Chr14:88393444
| SPATA7 | K49R | Leber congenital amaurosis 3 | Uncertain significance
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88893039
- GRCh38:
- Chr14:88426695
| SPATA7 | T247I, T279I | Leber congenital amaurosis 3 | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892873
- GRCh38:
- Chr14:88426529
| SPATA7 | D224Y, D192Y | Leber congenital amaurosis 3 | Uncertain significance
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857796
- GRCh38:
- Chr14:88391452
| SPATA7 | N31D | Leber congenital amaurosis 3 | Uncertain significance
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904681
- GRCh38:
- Chr14:88438337
| SPATA7 | V572D, V540D | Leber congenital amaurosis 3 | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892863
- GRCh38:
- Chr14:88426519
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904326
- GRCh38:
- Chr14:88437982
| SPATA7 | N422D, N454D | Leber congenital amaurosis 3 | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88903871
- GRCh38:
- Chr14:88437527
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904511
- GRCh38:
- Chr14:88438167
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904703
- GRCh38:
- Chr14:88438359
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88859744
- GRCh38:
- Chr14:88393400
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904241
- GRCh38:
- Chr14:88437897
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88883187
- GRCh38:
- Chr14:88416843
| SPATA7 | K124R, K92R | Leber congenital amaurosis 3 | Uncertain significance
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857746
- GRCh38:
- Chr14:88391402
| SPATA7 | P14R | Leber congenital amaurosis 3 | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904391
- GRCh38:
- Chr14:88438047
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892680-88892681
- GRCh38:
- Chr14:88426336-88426337
| SPATA7 | L129fs, L161fs | Leber congenital amaurosis 3 | Pathogenic
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88897544
- GRCh38:
- Chr14:88431200
| SPATA7 | P353S, P321S | Leber congenital amaurosis 3 | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904696
- GRCh38:
- Chr14:88438352
| SPATA7 | N545S, N577S | Leber congenital amaurosis 3 | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88897564-88897565
- GRCh38:
- Chr14:88431220-88431221
| SPATA7 | | Leber congenital amaurosis 3 | Pathogenic
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88903923
- GRCh38:
- Chr14:88437579
| SPATA7 | Q399H, Q367H | Leber congenital amaurosis 3 | Uncertain significance
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88899486
- GRCh38:
- Chr14:88433142
| SPATA7 | E364*, E332* | Leber congenital amaurosis 3 | Pathogenic
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857794
- GRCh38:
- Chr14:88391450
| SPATA7 | S30N | Leber congenital amaurosis 3 | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857705
- GRCh38:
- Chr14:88391361
| SPATA7 | | Leber congenital amaurosis 3 | Benign
(Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892864
- GRCh38:
- Chr14:88426520
| SPATA7 | P221S, P189S | Leber congenital amaurosis 3 | Uncertain significance
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904293
- GRCh38:
- Chr14:88437949
| SPATA7 | K411E, K443E | Leber congenital amaurosis 3 | Uncertain significance
(Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88883041-88883042
- GRCh38:
- Chr14:88416697-88416698
| SPATA7 | | Leber congenital amaurosis 3 | Benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892612
- GRCh38:
- Chr14:88426268
| SPATA7 | K137E, K105E | Leber congenital amaurosis 3 | Uncertain significance
(Jan 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904177
- GRCh38:
- Chr14:88437833
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88897575
- GRCh38:
- Chr14:88431231
| SPATA7 | | Leber congenital amaurosis 3 | Uncertain significance
(Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88883138
- GRCh38:
- Chr14:88416794
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857818
- GRCh38:
- Chr14:88391474
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904434
- GRCh38:
- Chr14:88438090
| SPATA7 | E490K, E458K | Leber congenital amaurosis 3 | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88859846
- GRCh38:
- Chr14:88393502
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892997
- GRCh38:
- Chr14:88426653
| SPATA7 | K265R, K233R | Leber congenital amaurosis 3 | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88895714
- GRCh38:
- Chr14:88429370
| SPATA7 | D280G, D312G | Leber congenital amaurosis 3 | Uncertain significance
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88897544
- GRCh38:
- Chr14:88431200
| SPATA7 | P321A, P353A | Leber congenital amaurosis 3 | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892857
- GRCh38:
- Chr14:88426513
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892651
- GRCh38:
- Chr14:88426307
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88893057
- GRCh38:
- Chr14:88426713
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892710
- GRCh38:
- Chr14:88426366
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88897571
- GRCh38:
- Chr14:88431227
| SPATA7 | | Leber congenital amaurosis 3 | Likely pathogenic
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88899489
- GRCh38:
- Chr14:88433145
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88883036
- GRCh38:
- Chr14:88416692
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88893989
- GRCh38:
- Chr14:88427645
| SPATA7 | T257fs, T289fs | Leber congenital amaurosis 3 | Pathogenic
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88883177
- GRCh38:
- Chr14:88416833
| SPATA7 | T121A, T89A | Leber congenital amaurosis 3 | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88903938
- GRCh38:
- Chr14:88437594
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892771
- GRCh38:
- Chr14:88426427
| SPATA7 | P190S, P158S | Leber congenital amaurosis 3 | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892654
- GRCh38:
- Chr14:88426310
| SPATA7 | V151I, V119I | Leber congenital amaurosis 3 | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904296
- GRCh38:
- Chr14:88437952
| SPATA7 | A412T, A444T | Leber congenital amaurosis 3 | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857804
- GRCh38:
- Chr14:88391460
| SPATA7 | | Leber congenital amaurosis 3 | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904521
- GRCh38:
- Chr14:88438177
| SPATA7 | T487A, T519A | Leber congenital amaurosis 3 | Uncertain significance
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857800
- GRCh38:
- Chr14:88391456
| SPATA7 | | Leber congenital amaurosis 3 | Likely pathogenic
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88859765
- GRCh38:
- Chr14:88393421
| SPATA7 | R41S | Leber congenital amaurosis 3 | Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892603
- GRCh38:
- Chr14:88426259
| SPATA7 | D102N, D134N | Leber congenital amaurosis 3 | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88883081
- GRCh38:
- Chr14:88416737
| SPATA7 | L57F, L89F | Leber congenital amaurosis 3 | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904593
- GRCh38:
- Chr14:88438249
| SPATA7 | G511S, G543S | Leber congenital amaurosis 3 | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88859843
- GRCh38:
- Chr14:88393499
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88903944
- GRCh38:
- Chr14:88437600
| SPATA7 | | Leber congenital amaurosis 3 | Uncertain significance
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904451
- GRCh38:
- Chr14:88438107
| SPATA7 | I495M, I463M | Leber congenital amaurosis 3 | Uncertain significance
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892991
- GRCh38:
- Chr14:88426647
| SPATA7 | K231R, K263R | Leber congenital amaurosis 3 | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892780-88892781
- GRCh38:
- Chr14:88426436-88426437
| SPATA7 | S195fs, S163fs | Leber congenital amaurosis 3 | Pathogenic
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88862536
- GRCh38:
- Chr14:88396192
| SPATA7 | T44S, T76S | Leber congenital amaurosis 3 | Uncertain significance
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904613
- GRCh38:
- Chr14:88438269
| SPATA7 | V550fs, V518fs | Leber congenital amaurosis 3 | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904685
- GRCh38:
- Chr14:88438341
| SPATA7 | K541N, K573N | Leber congenital amaurosis 3 | Uncertain significance
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857752
- GRCh38:
- Chr14:88391408
| SPATA7 | Y16C | Leber congenital amaurosis 3 | Uncertain significance
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88894036
- GRCh38:
- Chr14:88427692
| SPATA7 | K271T, K303T | Leber congenital amaurosis 3 | Uncertain significance
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857787
- GRCh38:
- Chr14:88391443
| SPATA7 | T28A | Leber congenital amaurosis 3 | Uncertain significance
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88852166
- GRCh38:
- Chr14:88385822
| LOC130056226, SPATA7 | D2H | Leber congenital amaurosis 3 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892770
- GRCh38:
- Chr14:88426426
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Nov 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904632
- GRCh38:
- Chr14:88438288
| SPATA7 | L524V, L556V | Leber congenital amaurosis 3 | Uncertain significance
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904250
- GRCh38:
- Chr14:88437906
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88903948
- GRCh38:
- Chr14:88437604
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904588
- GRCh38:
- Chr14:88438244
| SPATA7 | I509N, I541N | Leber congenital amaurosis 3 | Uncertain significance
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857805
- GRCh38:
- Chr14:88391461
| SPATA7 | | Leber congenital amaurosis 3 | Uncertain significance
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892980
- GRCh38:
- Chr14:88426636
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88894028-88894040
- GRCh38:
- Chr14:88427684-88427696
| SPATA7 | | Leber congenital amaurosis 3 | Pathogenic
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904384
- GRCh38:
- Chr14:88438040
| SPATA7 | M441fs, M473fs | Leber congenital amaurosis 3 | Pathogenic
(Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88852183
- GRCh38:
- Chr14:88385839
| LOC130056226, SPATA7 | | Leber congenital amaurosis 3 | Pathogenic/Likely pathogenic
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:88904163
- GRCh38:
- Chr14:88437819
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Apr 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88895799
- GRCh38:
- Chr14:88429455
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88892564
- GRCh38:
- Chr14:88426220
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88895677
- GRCh38:
- Chr14:88429333
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Dec 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857713
- GRCh38:
- Chr14:88391369
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Oct 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857707-88857708
- GRCh38:
- Chr14:88391363-88391364
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Oct 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904235
- GRCh38:
- Chr14:88437891
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857804-88857805
- GRCh38:
- Chr14:88391460-88391461
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Nov 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88883059
- GRCh38:
- Chr14:88416715
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857716
- GRCh38:
- Chr14:88391372
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Feb 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88857766
- GRCh38:
- Chr14:88391422
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88895694
- GRCh38:
- Chr14:88429350
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88904256
- GRCh38:
- Chr14:88437912
| SPATA7 | | Leber congenital amaurosis 3 | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |