| - GRCh37:
- Chr7:128033061
- GRCh38:
- Chr7:128393007
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa 10, not provided
| Uncertain significance
(Dec 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128038574
- GRCh38:
- Chr7:128398520
| IMPDH1 | K213T, K238T, K323T, K290T, K233T, K254T, K287T, K313T | Leber congenital amaurosis 11 | Uncertain significance
(Aug 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128038600
- GRCh38:
- Chr7:128398546
| IMPDH1 | K224N, K229N, K314N, K204N, K245N, K278N, K304N, K281N | Leber congenital amaurosis 11 | Uncertain significance
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128045884
- GRCh38:
- Chr7:128405830
| IMPDH1 | Y61C, Y97C, Y12C, Y87C | Leber congenital amaurosis 11 | Uncertain significance
(Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128045929
- GRCh38:
- Chr7:128405875
| IMPDH1 | | Leber congenital amaurosis 11, not provided, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128037079
- GRCh38:
- Chr7:128397025
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128034426
- GRCh38:
- Chr7:128394372
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032340
- GRCh38:
- Chr7:128392286
| IMPDH1, LOC107986845 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128041149
- GRCh38:
- Chr7:128401095
| IMPDH1 | R132W, R73W, R106W, R109W, R142W, R57W | not provided, Retinitis pigmentosa, Leber congenital amaurosis 11
| Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128040889
- GRCh38:
- Chr7:128400835
| IMPDH1 | | not provided, Retinitis pigmentosa, Leber congenital amaurosis 11
| Conflicting interpretations of pathogenicity
(Aug 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128036689
- GRCh38:
- Chr7:128396635
| IMPDH1 | G319D, G376D, G399D, G299D, G324D, G340D, G373D, G409D | Retinitis pigmentosa 10, Leber congenital amaurosis 11, not provided,
Retinitis pigmentosa | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128035310
- GRCh38:
- Chr7:128395256
| IMPDH1 | P337L, P342L, P391L, P417L, P317L, P358L, P394L, P427L | Leber congenital amaurosis 11, not provided, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128032959
- GRCh38:
- Chr7:128392905
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032785
- GRCh38:
- Chr7:128392731
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Benign/Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128050032
- GRCh38:
- Chr7:128409978
| IMPDH1, LOC129999258 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128050028
- GRCh38:
- Chr7:128409974
| IMPDH1, LOC129999258 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128040498
- GRCh38:
- Chr7:128400444
| IMPDH1 | | not provided, Retinitis pigmentosa, Leber congenital amaurosis 11
| Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128040479
- GRCh38:
- Chr7:128400425
| IMPDH1 | T147A, T196A, T199A, T163A, T122A, T142A, T222A, T232A | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032931
- GRCh38:
- Chr7:128392877
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032924
- GRCh38:
- Chr7:128392870
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032893
- GRCh38:
- Chr7:128392839
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032865
- GRCh38:
- Chr7:128392811
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128032651
- GRCh38:
- Chr7:128392597
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032517
- GRCh38:
- Chr7:128392463
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032448
- GRCh38:
- Chr7:128392394
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128040228
- GRCh38:
- Chr7:128400174
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128034631
- GRCh38:
- Chr7:128394577
| IMPDH1 | A515S, A492S, A435S, A456S, A489S, A525S, A415S, A440S | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128034615
- GRCh38:
- Chr7:128394561
| IMPDH1 | G440D, G461D, G520D, G420D, G497D, G445D, G494D, G530D | Retinitis pigmentosa, Leber congenital amaurosis 11, not provided
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128032838
- GRCh38:
- Chr7:128392784
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032838
- GRCh38:
- Chr7:128392784
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032419
- GRCh38:
- Chr7:128392365
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032367
- GRCh38:
- Chr7:128392313
| IMPDH1, LOC107986845 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128049972
- GRCh38:
- Chr7:128409918
| IMPDH1, LOC129999258 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128049968
- GRCh38:
- Chr7:128409914
| IMPDH1, LOC129999258 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128049804
- GRCh38:
- Chr7:128409750
| IMPDH1, LOC129999258 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128041130
- GRCh38:
- Chr7:128401076
| IMPDH1 | T115M, T148M, T112M, T138M, T63M, T79M | not provided, Leber congenital amaurosis 11, Retinitis pigmentosa
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128040182
- GRCh38:
- Chr7:128400128
| IMPDH1 | E171Q, E196Q, E212Q, E271Q, E191Q, E245Q, E248Q, E281Q | Retinitis pigmentosa, not provided, Leber congenital amaurosis 11
| Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128049885
- GRCh38:
- Chr7:128409831
| IMPDH1, LOC129999258 | R24P | Leber congenital amaurosis 11, not provided, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128038462
- GRCh38:
- Chr7:128398408
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11, not provided
| Benign/Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128038461
- GRCh38:
- Chr7:128398407
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11, not provided
| Benign/Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128038612
- GRCh38:
- Chr7:128398558
| IMPDH1 | | not provided, Retinitis pigmentosa, Leber congenital amaurosis 11
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128049496
- GRCh38:
- Chr7:128409442
| IMPDH1 | | not provided, Retinitis pigmentosa, Leber congenital amaurosis 11
| Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128034542
- GRCh38:
- Chr7:128394488
| IMPDH1 | | not provided, Leber congenital amaurosis 11, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128034536
- GRCh38:
- Chr7:128394482
| IMPDH1 | | not provided, Leber congenital amaurosis 11, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Oct 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128037009
- GRCh38:
- Chr7:128396955
| IMPDH1 | H271R, H312R, H348R, H371R, H291R, H381R, H296R, H345R | not provided, Leber congenital amaurosis 11, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128034606
- GRCh38:
- Chr7:128394552
| IMPDH1 | Q533R, Q423R, Q448R, Q523R, Q443R, Q500R, Q464R, Q497R | Leber congenital amaurosis 11, not provided, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128035060
- GRCh38:
- Chr7:128395006
| IMPDH1 | T478I, T388I, T468I, T368I, T393I, T409I, T442I, T445I | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128038512
- GRCh38:
- Chr7:128398458
| IMPDH1 | R344C, R254C, R259C, R311C, R308C, R234C, R334C, R275C | Leber congenital amaurosis 11, not provided | Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128038614
- GRCh38:
- Chr7:128398560
| IMPDH1 | T310P, T220P, T225P, T274P, T241P, T200P, T277P, T300P | Leber congenital amaurosis 11, Retinitis pigmentosa | Likely pathogenic
(Aug 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128050024
- GRCh38:
- Chr7:128409970
| IMPDH1, LOC129999258 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128050014
- GRCh38:
- Chr7:128409960
| IMPDH1, LOC129999258 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128049801
- GRCh38:
- Chr7:128409747
| IMPDH1, LOC129999258 | | not provided, Retinitis pigmentosa, Leber congenital amaurosis 11
| Conflicting interpretations of pathogenicity
(Jun 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128040436
- GRCh38:
- Chr7:128400382
| IMPDH1 | R246Q, R177Q, R236Q, R161Q, R213Q, R156Q, R136Q, R210Q | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128040404
- GRCh38:
- Chr7:128400350
| IMPDH1 | T257A, T221A, T167A, T172A, T188A, T224A, T247A, T147A | Inborn genetic diseases, Retinitis pigmentosa, not provided,
Leber congenital amaurosis 11 | Conflicting interpretations of pathogenicity
(Feb 16, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128038654
- GRCh38:
- Chr7:128398600
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11, not provided
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128038555
- GRCh38:
- Chr7:128398501
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11, not provided
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128035252
- GRCh38:
- Chr7:128395198
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11, not provided
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128035240
- GRCh38:
- Chr7:128395186
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128034629
- GRCh38:
- Chr7:128394575
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11, not provided
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128034551
- GRCh38:
- Chr7:128394497
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11, not provided
| Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128034406
- GRCh38:
- Chr7:128394352
| IMPDH1 | M568I, M458I, M478I, M499I, M532I, M535I, M558I, M483I | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032956
- GRCh38:
- Chr7:128392902
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032859
- GRCh38:
- Chr7:128392805
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032838
- GRCh38:
- Chr7:128392784
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128032833
- GRCh38:
- Chr7:128392779
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032830
- GRCh38:
- Chr7:128392776
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032805
- GRCh38:
- Chr7:128392751
| IMPDH1 | | Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032803
- GRCh38:
- Chr7:128392749
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032802
- GRCh38:
- Chr7:128392748
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032740
- GRCh38:
- Chr7:128392686
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032740
- GRCh38:
- Chr7:128392686
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032464
- GRCh38:
- Chr7:128392410
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032430
- GRCh38:
- Chr7:128392376
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032427
- GRCh38:
- Chr7:128392373
| IMPDH1 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128032339
- GRCh38:
- Chr7:128392285
| IMPDH1, LOC107986845 | | Leber congenital amaurosis 11, Retinitis pigmentosa | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128045838
- GRCh38:
- Chr7:128405784
| IMPDH1 | | not provided, Leber congenital amaurosis 11, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128034396
- GRCh38:
- Chr7:128394342
| IMPDH1 | E572Q, E482Q, E487Q, E503Q, E539Q, E562Q, E462Q, E536Q | Leber congenital amaurosis 11, Retinitis pigmentosa 10, not provided,
Retinitis pigmentosa, Leber congenital amaurosis 11 | Uncertain significance
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128035176
- GRCh38:
- Chr7:128395122
| IMPDH1 | | not provided, not specified, Retinitis pigmentosa,
Leber congenital amaurosis 11 | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128037043
- GRCh38:
- Chr7:128396989
| IMPDH1 | A370T, A260T, A280T, A285T, A337T, A301T, A334T, A360T | not specified, Leber congenital amaurosis 11, Retinitis pigmentosa 10,
not provided, Retinitis pigmentosa, Leber congenital amaurosis 11
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128040174
- GRCh38:
- Chr7:128400120
| IMPDH1 | N198K, N173K, N193K, N247K, N250K, N273K, N283K, N214K | Leber congenital amaurosis 11 | Pathogenic
(Jan 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr7:128040882
- GRCh38:
- Chr7:128400828
| IMPDH1 | R105W, R154W, R157W, R180W, R190W, R121W | not provided, Leber congenital amaurosis 11 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |