| - GRCh37:
- Chr17:7916517-7916519
- GRCh38:
- Chr17:8013199-8013201
| GUCY2D | E738del | Leber congenital amaurosis 1 | Likely pathogenic
(Sep 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906366-8027402
| ALOX12B, TRR-TCT2-1, TRL-TAG1-1, GUCY2D, HES7, ALOXE3, TRQ-CTG1-5, ALOX15B, TRK-TTT3-5 | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906366-7912924
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Pathogenic
(Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917269
- GRCh38:
- Chr17:8013951
| GUCY2D | E779K | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906682
- GRCh38:
- Chr17:8003364
| GUCY2D | R106L | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7910456
- GRCh38:
- Chr17:8007138
| GUCY2D | Y486C | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7919570
- GRCh38:
- Chr17:8016252
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907382
- GRCh38:
- Chr17:8004064
| GUCY2D | T312A | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7909809
- GRCh38:
- Chr17:8006491
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7909903
- GRCh38:
- Chr17:8006585
| GUCY2D | T417S | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906457
- GRCh38:
- Chr17:8003139
| GUCY2D | R31Q | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7911275
- GRCh38:
- Chr17:8007957
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7909924
- GRCh38:
- Chr17:8006606
| GUCY2D | R424W | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7910395
- GRCh38:
- Chr17:8007077
| GUCY2D | V466L | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906504
- GRCh38:
- Chr17:8003186
| GUCY2D | P47S | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7919603
- GRCh38:
- Chr17:8016285
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7916404
- GRCh38:
- Chr17:8013086
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7915606
- GRCh38:
- Chr17:8012288
| GUCY2D | A632T | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7915471
- GRCh38:
- Chr17:8012153
| GUCY2D | L587V | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906955
- GRCh38:
- Chr17:8003637
| GUCY2D | A197V | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7918383
- GRCh38:
- Chr17:8015065
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906855
- GRCh38:
- Chr17:8003537
| GUCY2D | A164T | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906542
- GRCh38:
- Chr17:8003224
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7909846
- GRCh38:
- Chr17:8006528
| GUCY2D | E398K | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7911283
- GRCh38:
- Chr17:8007965
| GUCY2D | R534L | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906899
- GRCh38:
- Chr17:8003581
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7909802
- GRCh38:
- Chr17:8006484
| GUCY2D | R383L | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7918776
- GRCh38:
- Chr17:8015458
| GUCY2D | H967R | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Dec 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7919110
- GRCh38:
- Chr17:8015792
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917970
- GRCh38:
- Chr17:8014652
| GUCY2D | R822W | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917285
- GRCh38:
- Chr17:8013967
| GUCY2D | M784T | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907270
- GRCh38:
- Chr17:8003952
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7916492
- GRCh38:
- Chr17:8013174
| GUCY2D | V729I | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917362
- GRCh38:
- Chr17:8014044
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7918831
- GRCh38:
- Chr17:8015513
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7919614
- GRCh38:
- Chr17:8016296
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7918349
- GRCh38:
- Chr17:8015031
| GUCY2D | G917C | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7915540
- GRCh38:
- Chr17:8012222
| GUCY2D | L610V | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906510
- GRCh38:
- Chr17:8003192
| GUCY2D | A49T | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7910853
- GRCh38:
- Chr17:8007535
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917309
- GRCh38:
- Chr17:8013991
| GUCY2D | P792L | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7910052
- GRCh38:
- Chr17:8006734
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7919286
- GRCh38:
- Chr17:8015968
| GUCY2D | R1029C | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906757
- GRCh38:
- Chr17:8003439
| GUCY2D | A131E | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7910419
- GRCh38:
- Chr17:8007101
| GUCY2D | V474I | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907076
- GRCh38:
- Chr17:8003758
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7916566
- GRCh38:
- Chr17:8013248
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907327
- GRCh38:
- Chr17:8004009
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7912807
- GRCh38:
- Chr17:8009489
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917220
- GRCh38:
- Chr17:8013902
| GUCY2D | P764fs | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Pathogenic
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917940
- GRCh38:
- Chr17:8014622
| GUCY2D | R812W | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7915474
- GRCh38:
- Chr17:8012156
| GUCY2D | R588W | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906813
- GRCh38:
- Chr17:8003495
| GUCY2D | W150R | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917197
- GRCh38:
- Chr17:8013879
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely pathogenic
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7910010
- GRCh38:
- Chr17:8006692
| GUCY2D | D452E | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7912903
- GRCh38:
- Chr17:8009585
| GUCY2D | K583T | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7909875
- GRCh38:
- Chr17:8006557
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906850
- GRCh38:
- Chr17:8003532
| GUCY2D | A162D | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7918758
- GRCh38:
- Chr17:8015440
| GUCY2D | G961V | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7916545
- GRCh38:
- Chr17:8013227
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907233
- GRCh38:
- Chr17:8003915
| GUCY2D | A262D | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7910008
- GRCh38:
- Chr17:8006690
| GUCY2D | D452H | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Apr 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7919045
- GRCh38:
- Chr17:8015727
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917224
- GRCh38:
- Chr17:8013906
| GUCY2D | P764A | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7918805
- GRCh38:
- Chr17:8015487
| GUCY2D | I977L | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906401
- GRCh38:
- Chr17:8003083
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907235
- GRCh38:
- Chr17:8003917
| GUCY2D | A263P | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7910797
- GRCh38:
- Chr17:8007479
| GUCY2D | T506S | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906822
- GRCh38:
- Chr17:8003504
| GUCY2D | P153S | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7915532-7915533
- GRCh38:
- Chr17:8012214-8012215
| GUCY2D | A609fs | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Pathogenic
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7916571
- GRCh38:
- Chr17:8013253
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely pathogenic
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907286
- GRCh38:
- Chr17:8003968
| GUCY2D | T280A | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906534
- GRCh38:
- Chr17:8003216
| GUCY2D | G57R | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906814
- GRCh38:
- Chr17:8003496
| GUCY2D | W150S | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907431
- GRCh38:
- Chr17:8004113
| GUCY2D | A328D | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906886
- GRCh38:
- Chr17:8003568
| GUCY2D | A174D | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917336
- GRCh38:
- Chr17:8014018
| GUCY2D | T801N | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7909802
- GRCh38:
- Chr17:8006484
| GUCY2D | D384fs | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Pathogenic
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907255
- GRCh38:
- Chr17:8003937
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7918773
- GRCh38:
- Chr17:8015455
| GUCY2D | R966H | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7909793
- GRCh38:
- Chr17:8006475
| GUCY2D | R380H | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7915679
- GRCh38:
- Chr17:8012361
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7918089
- GRCh38:
- Chr17:8014771
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7918267
- GRCh38:
- Chr17:8014949
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917971
- GRCh38:
- Chr17:8014653
| GUCY2D | R822Q | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7911367
- GRCh38:
- Chr17:8008049
| GUCY2D | | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Likely benign
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906690
- GRCh38:
- Chr17:8003372
| GUCY2D | G109C | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7909830
- GRCh38:
- Chr17:8006512
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917346
- GRCh38:
- Chr17:8014028
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906456
- GRCh38:
- Chr17:8003138
| GUCY2D | R31G | Leber congenital amaurosis 1, Cone-rod dystrophy 6 | Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7919319-7919326
- GRCh38:
- Chr17:8016001-8016008
| GUCY2D | R1040fs | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Pathogenic
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906434
- GRCh38:
- Chr17:8003116
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906629
- GRCh38:
- Chr17:8003311
| GUCY2D | | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Likely benign
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906670
- GRCh38:
- Chr17:8003352
| GUCY2D | P102H | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906625
- GRCh38:
- Chr17:8003307
| GUCY2D | D87A | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7907229-7907230
- GRCh38:
- Chr17:8003911-8003912
| GUCY2D | E261fs | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Pathogenic
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7912869
- GRCh38:
- Chr17:8009551
| GUCY2D | A572P | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917311
- GRCh38:
- Chr17:8013993
| GUCY2D | E793K | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7906450
- GRCh38:
- Chr17:8003132
| GUCY2D | L29F | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7917257
- GRCh38:
- Chr17:8013939
| GUCY2D | Q775* | Cone-rod dystrophy 6, Leber congenital amaurosis 1 | Pathogenic
(May 17, 2022) | criteria provided, single submitter |