| - GRCh37:
- Chr1:94495195
- GRCh38:
- Chr1:94029639
| ABCA4 | | Retinitis pigmentosa 1 | Uncertain significance
(Jul 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55533531-55533532
- GRCh38:
- Chr8:54620971-54620972
| RP1 | S2fs | Retinitis pigmentosa 1 | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55541376-55541377
- GRCh38:
- Chr8:54628816-54628817
| LOC126860392, RP1 | P1648fs | Retinitis pigmentosa 1 | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55537313
- GRCh38:
- Chr8:54624753
| RP1 | D291Y | Retinitis pigmentosa 1 | Uncertain significance
(Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55538545-55538546
- GRCh38:
- Chr8:54625985-54625986
| RP1 | R701fs | Retinitis pigmentosa 1 | Pathogenic
(Feb 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55533558
- GRCh38:
- Chr8:54620998
| RP1 | I11N | Retinitis pigmentosa 1 | Uncertain significance
(Jan 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55533987
- GRCh38:
- Chr8:54621427
| RP1 | R154Q | Retinitis pigmentosa 1 | Uncertain significance
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55538443
- GRCh38:
- Chr8:54625883
| RP1 | V668fs | Retinitis pigmentosa 1 | Pathogenic
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55632688
- GRCh38:
- Chr8:54720128
| RP1 | | Retinitis pigmentosa 1 | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55538534-55538535
- GRCh38:
- Chr8:54625974-54625975
| RP1 | K698fs | Retinitis pigmentosa 1 | Likely pathogenic
(Apr 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55541444
- GRCh38:
- Chr8:54628884
| LOC126860392, RP1 | R1668G | not provided, Retinitis pigmentosa 1 | Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538452-55538453
- GRCh38:
- Chr8:54625892-54625893
| RP1 | K673fs | Retinitis pigmentosa 1, not provided | Pathogenic/Likely pathogenic
(Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541690
- GRCh38:
- Chr8:54629130
| LOC126860392, RP1 | E1750* | Retinitis pigmentosa 1 | Likely pathogenic
(May 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55533779-55533780
- GRCh38:
- Chr8:54621219-54621220
| RP1 | R87fs | Retinitis pigmentosa 1 | Pathogenic
(Jul 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55541078
- GRCh38:
- Chr8:54628518
| RP1 | Q1546* | Retinitis pigmentosa 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr8:55538606
- GRCh38:
- Chr8:54626046
| RP1 | G723fs | Retinitis pigmentosa 1 | Likely pathogenic
(Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55542005
- GRCh38:
- Chr8:54629445
| LOC126860392, RP1 | K1855fs | not provided, Retinitis pigmentosa 1 | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538519
- GRCh38:
- Chr8:54625959
| RP1 | G694fs | Retinitis pigmentosa 1 | Pathogenic
(Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55538433
- GRCh38:
- Chr8:54625873
| RP1 | L665fs | Retinitis pigmentosa 1 | Likely pathogenic
(Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55537403-55537405
- GRCh38:
- Chr8:54624843-54624845
| RP1 | K321del | Retinitis pigmentosa 1 | Uncertain significance
(Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55537952
- GRCh38:
- Chr8:54625392
| RP1 | S504P | not provided, Retinitis pigmentosa 1 | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55534058
- GRCh38:
- Chr8:54621498
| RP1 | Q178* | not provided, Retinitis pigmentosa 1 | Pathogenic
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541150
- GRCh38:
- Chr8:54628590
| RP1 | G1570fs | not provided, Retinitis pigmentosa 1 | Pathogenic/Likely pathogenic
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541107
- GRCh38:
- Chr8:54628547
| RP1 | | Retinitis pigmentosa 1, not provided | Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55540613
- GRCh38:
- Chr8:54628053
| RP1 | Q1391fs | Retinitis pigmentosa 1, not provided | Pathogenic/Likely pathogenic
(Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538957
- GRCh38:
- Chr8:54626397
| RP1 | Q839* | Retinitis pigmentosa 1 | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55537568
- GRCh38:
- Chr8:54625008
| RP1 | R376* | not provided, Retinitis pigmentosa 1 | Pathogenic/Likely pathogenic
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538103
- GRCh38:
- Chr8:54625543
| RP1 | S554N | not provided, Retinitis pigmentosa 1 | Uncertain significance
(May 15, 2022) | criteria provided, multiple submitters, no conflicts |
| | RP1 | | Retinitis pigmentosa 1 | Likely pathogenic
(Jan 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55537225-55537229
- GRCh38:
- Chr8:54624665-54624669
| RP1 | | not provided, Retinitis pigmentosa 1 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:55539597
- GRCh38:
- Chr8:54627037
| RP1 | Y1053fs | Retinitis pigmentosa 1, not provided | Pathogenic
(May 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55542363
- GRCh38:
- Chr8:54629803
| LOC126860392, RP1 | A1974fs | Retinitis pigmentosa 1 | Likely pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55539869
- GRCh38:
- Chr8:54627309
| RP1 | N1143fs | Retinitis pigmentosa 1 | Pathogenic
(Sep 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55541246
- GRCh38:
- Chr8:54628686
| RP1 | Q1602* | not provided, Retinitis pigmentosa 1 | Pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538168
- GRCh38:
- Chr8:54625608
| RP1 | V576M | not provided, Retinitis pigmentosa 1 | Uncertain significance
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541225
- GRCh38:
- Chr8:54628665
| RP1 | R1595W | Retinitis pigmentosa 1, not provided | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55539782
- GRCh38:
- Chr8:54627222
| RP1 | G1114R | Retinitis pigmentosa 1, not provided | Uncertain significance
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541350
- GRCh38:
- Chr8:54628790
| LOC126860392, RP1 | Y1636* | Retinitis pigmentosa 1 | Likely pathogenic
(Oct 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55542795
- GRCh38:
- Chr8:54630235
| RP1 | S2118N | Retinitis pigmentosa 1, not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55537454
- GRCh38:
- Chr8:54624894
| RP1 | R338* | Retinitis pigmentosa 1, not provided | Pathogenic
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55534728
- GRCh38:
- Chr8:54622168
| RP1 | G223fs | not provided, Retinitis pigmentosa 1, Retinal dystrophy
| Pathogenic/Likely pathogenic
(Dec 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55537910
- GRCh38:
- Chr8:54625350
| RP1 | E490* | not provided, Retinitis pigmentosa 1 | Pathogenic/Likely pathogenic
(May 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55542678
- GRCh38:
- Chr8:54630118
| RP1 | S2079* | Retinitis pigmentosa 1 | Likely pathogenic
(Jun 6, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr8:55538548
- GRCh38:
- Chr8:54625988
| RP1 | N703fs | Retinitis pigmentosa, Retinitis pigmentosa 1 | Pathogenic/Likely pathogenic
(Apr 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538953
- GRCh38:
- Chr8:54626393
| RP1 | | not provided, Retinitis pigmentosa 1 | Likely benign
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55539946
- GRCh38:
- Chr8:54627386
| RP1 | | not provided, Retinitis pigmentosa 1 | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55539759
- GRCh38:
- Chr8:54627199
| RP1 | V1106A | not provided, Retinitis pigmentosa 1 | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55534036
- GRCh38:
- Chr8:54621476
| RP1 | | Retinitis pigmentosa 1 | Likely benign
(Apr 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55534160
- GRCh38:
- Chr8:54621600
| RP1 | | Retinitis pigmentosa 1 | Likely benign
(Apr 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55537822
- GRCh38:
- Chr8:54625262
| RP1 | K460N | Retinitis pigmentosa 1, not provided, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:55538600
- GRCh38:
- Chr8:54626040
| RP1 | G723fs | Retinitis pigmentosa 1, not provided | Pathogenic/Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55537673-55537674
- GRCh38:
- Chr8:54625113-54625114
| RP1 | M412fs | Retinitis pigmentosa, Retinitis pigmentosa 1, not provided
| Pathogenic/Likely pathogenic
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55539838
- GRCh38:
- Chr8:54627278
| RP1 | W1132* | Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 1 | Pathogenic
(Sep 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr8:55538497
- GRCh38:
- Chr8:54625937
| RP1 | Y685* | Retinitis pigmentosa 1 | Pathogenic
(Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:94485221
- GRCh38:
- Chr1:94019665
| ABCA4 | R1705W | Retinal dystrophy, Cone/cone-rod dystrophy, ABCA4-Related Disorders,
not provided, Retinitis pigmentosa 1, Severe early-childhood-onset retinal dystrophy
| Conflicting interpretations of pathogenicity
(Jul 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:55533891-55533892
- GRCh38:
- Chr8:54621331-54621332
| RP1 | P124fs | not provided | Pathogenic
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55538777
- GRCh38:
- Chr8:54626217
| RP1 | S779fs | Retinitis pigmentosa 1 | Pathogenic
(Sep 1, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:55537893
- GRCh38:
- Chr8:54625333
| RP1 | S484* | Retinal dystrophy, Retinitis pigmentosa 1 | Pathogenic/Likely pathogenic
(Apr 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr8:55541544-55541548
- GRCh38:
- Chr8:54628984-54628988
| LOC126860392, RP1 | D1702fs | Retinitis pigmentosa 1 | Pathogenic
(Sep 18, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr8:55541457
- GRCh38:
- Chr8:54628897
| LOC126860392, RP1 | Y1673fs | Retinal dystrophy, not provided, Retinitis pigmentosa 1
| Pathogenic/Likely pathogenic
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55540279
- GRCh38:
- Chr8:54627719
| RP1 | P1282fs | not provided | Pathogenic
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55539049-55539050
- GRCh38:
- Chr8:54626489-54626490
| RP1 | R872fs | Retinal dystrophy, Retinitis pigmentosa, not provided,
Retinitis pigmentosa 1 | Pathogenic/Likely pathogenic
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55537940-55537941
- GRCh38:
- Chr8:54625380-54625381
| RP1 | M500fs | Retinitis pigmentosa 1 | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55542667
- GRCh38:
- Chr8:54630107
| RP1 | R2075S | Retinitis pigmentosa, Retinitis pigmentosa 1 | Uncertain significance
(Oct 16, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55542143
- GRCh38:
- Chr8:54629583
| LOC126860392, RP1 | L1901F | Retinitis pigmentosa, Retinitis pigmentosa 1, not provided
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541226
- GRCh38:
- Chr8:54628666
| RP1 | R1595Q | Retinitis pigmentosa, Retinitis pigmentosa 1, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55540141
- GRCh38:
- Chr8:54627581
| RP1 | | not specified, Retinitis pigmentosa, Retinitis pigmentosa 1,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55539433
- GRCh38:
- Chr8:54626873
| RP1 | | Retinitis pigmentosa, Retinitis pigmentosa 1, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55539574
- GRCh38:
- Chr8:54627014
| RP1 | K1044N | not specified, not provided, Retinitis pigmentosa 1
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:55541178-55541179
- GRCh38:
- Chr8:54628618-54628619
| RP1 | C1582fs | not provided | Pathogenic
(Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:55540638
- GRCh38:
- Chr8:54628078
| RP1 | C1399fs | Retinitis pigmentosa 1, not provided | Pathogenic/Likely pathogenic
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55540268
- GRCh38:
- Chr8:54627708
| RP1 | P1276S | not provided, Retinitis pigmentosa | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:55542638
- GRCh38:
- Chr8:54630078
| RP1 | D2066N | not provided, Retinitis pigmentosa, Retinitis pigmentosa 1
| Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:55534671
- GRCh38:
- Chr8:54622111
| RP1 | | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 1 | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55539158
- GRCh38:
- Chr8:54626598
| RP1 | A906T | not provided, Retinitis pigmentosa 1 | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55539057
- GRCh38:
- Chr8:54626497
| RP1 | R872H | not specified, Retinitis pigmentosa, Retinitis pigmentosa 1,
not provided | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55533754
- GRCh38:
- Chr8:54621194
| RP1 | | not provided, Retinitis pigmentosa, Retinitis pigmentosa 1
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:55542239
- GRCh38:
- Chr8:54629679
| LOC126860392, RP1 | R1933* | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 1 | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:55537628
- GRCh38:
- Chr8:54625068
| RP1 | R396* | Retinal dystrophy, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 1 | Pathogenic/Likely pathogenic
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538697
- GRCh38:
- Chr8:54626137
| RP1 | T752M | not provided, Retinitis pigmentosa, Retinitis pigmentosa 1
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55542540
- GRCh38:
- Chr8:54629980
| RP1 | C2033Y | Retinitis pigmentosa, not specified, not provided,
Retinitis pigmentosa 1 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541617
- GRCh38:
- Chr8:54629057
| LOC126860392, RP1 | | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 1 | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541513
- GRCh38:
- Chr8:54628953
| LOC126860392, RP1 | S1691P | not specified, Retinitis pigmentosa, not provided,
Retinitis pigmentosa 1 | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541450
- GRCh38:
- Chr8:54628890
| LOC126860392, RP1 | A1670T | not specified, Retinitis pigmentosa, not provided,
Retinitis pigmentosa 1 | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55541177
- GRCh38:
- Chr8:54628617
| RP1 | L1579V | not provided, Retinitis pigmentosa, Retinitis pigmentosa 1
| Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:55537899-55537900
- GRCh38:
- Chr8:54625339-54625340
| RP1 | E488* | Retinitis pigmentosa 1 | Pathogenic
(May 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr8:55537560
- GRCh38:
- Chr8:54625000
| RP1 | T373I | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 1 | Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55539395
- GRCh38:
- Chr8:54626835
| RP1 | N985Y | not provided, not specified, Retinitis pigmentosa,
Retinitis pigmentosa 1 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538477
- GRCh38:
- Chr8:54625917
| RP1 | Q679* | not provided, Retinitis pigmentosa 1 | Pathogenic/Likely pathogenic
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538727-55538730
- GRCh38:
- Chr8:54626167-54626170
| RP1 | N763fs | Retinitis pigmentosa 1 | Pathogenic
(Jul 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr8:55538722-55538726
- GRCh38:
- Chr8:54626162-54626166
| RP1 | L762fs | Retinal dystrophy, not provided | Pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:55538471
- GRCh38:
- Chr8:54625911
| RP1 | R677* | Retinal dystrophy, not provided, Retinitis pigmentosa 1
| Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |