| 11599356 | CV310340 | single nucleotide variant | NM_002900.3(RBP3):c.-13C>T | Retinitis pigmentosa 66 [RCV001795920]|Retinitis pigmentosa [RCV000265054]|not provided [RCV004718257] | benign|likely benign | 10 | 47348472 | 47348472 | Human | 3 | name |
| 11611445 | CV321483 | single nucleotide variant | NM_002900.3(RBP3):c.*65C>T | Retinitis pigmentosa [RCV000394902] | uncertain significance | 10 | 47357522 | 47357522 | Human | 2 | name |
| 28907959 | CV865883 | single nucleotide variant | NM_002900.3(RBP3):c.-83G>A | Retinitis pigmentosa [RCV001107521] | uncertain significance | 10 | 47348402 | 47348402 | Human | 2 | name |
| 11650311 | CV310380 | single nucleotide variant | NM_002900.3(RBP3):c.*180T>C | Retinitis pigmentosa [RCV000292261] | uncertain significance | 10 | 47357637 | 47357637 | Human | 2 | name |
| 11610996 | CV321485 | single nucleotide variant | NM_002900.3(RBP3):c.*388G>A | Retinitis pigmentosa [RCV000388906] | uncertain significance | 10 | 47357845 | 47357845 | Human | 2 | name |
| 28909979 | CV865901 | single nucleotide variant | NM_002900.3(RBP3):c.*116A>C | Retinitis pigmentosa [RCV001108764] | uncertain significance | 10 | 47357573 | 47357573 | Human | 2 | name |
| 28909978 | CV865902 | single nucleotide variant | NM_002900.3(RBP3):c.*219C>T | Retinitis pigmentosa [RCV001108763]|not provided [RCV004707537] | likely benign | 10 | 47357676 | 47357676 | Human | 2 | name |
| 28909975 | CV865903 | single nucleotide variant | NM_002900.3(RBP3):c.*226C>G | Retinitis pigmentosa [RCV001108762] | uncertain significance | 10 | 47357683 | 47357683 | Human | 2 | name |
| 28909971 | CV865904 | single nucleotide variant | NM_002900.3(RBP3):c.*266C>G | Retinitis pigmentosa [RCV001108761] | uncertain significance | 10 | 47357723 | 47357723 | Human | 2 | name |
| 127329682 | CV1120305 | single nucleotide variant | NM_002900.3(RBP3):c.3054+9C>T | not provided [RCV001470370] | likely benign | 10 | 47351547 | 47351547 | Human | | name |
| 152157813 | CV1629958 | single nucleotide variant | NM_002900.3(RBP3):c.3245+8G>C | not provided [RCV002202901] | likely benign | 10 | 47353523 | 47353523 | Human | | name |
| 156083678 | CV2079946 | single nucleotide variant | NM_002900.3(RBP3):c.3246-7C>A | not provided [RCV002847471] | likely benign | 10 | 47355369 | 47355369 | Human | | name |
| 597886293 | CV3787393 | single nucleotide variant | NM_002900.3(RBP3):c.3388+4C>G | not provided [RCV005124959] | uncertain significance | 10 | 47355522 | 47355522 | Human | | name |
| 14693446 | CV620821 | deletion | NM_002900.3(RBP3):c.3245+1del | not provided [RCV004800583] | likely pathogenic|uncertain significance | 10 | 47353515 | 47353515 | Human | | name |
| 38473209 | CV959933 | single nucleotide variant | NM_002900.3(RBP3):c.3388+4C>T | Retinal dystrophy [RCV004813934]|not provided [RCV001231707] | uncertain significance | 10 | 47355522 | 47355522 | Human | 2 | name |
| 38495045 | CV959934 | single nucleotide variant | NM_002900.3(RBP3):c.3388+5G>A | not provided [RCV001225467] | uncertain significance | 10 | 47355523 | 47355523 | Human | | name |
| 127238893 | CV1077085 | single nucleotide variant | NM_002900.3(RBP3):c.3054+16G>T | not provided [RCV001415186] | likely benign | 10 | 47351554 | 47351554 | Human | | name |
| 152054311 | CV1564194 | single nucleotide variant | NM_002900.3(RBP3):c.3246-16G>T | not provided [RCV002146047] | likely benign | 10 | 47355360 | 47355360 | Human | | name |
| 152125521 | CV1646190 | single nucleotide variant | NM_002900.3(RBP3):c.3055-12C>T | not provided [RCV002217349] | benign | 10 | 47353313 | 47353313 | Human | | name |
| 152067776 | CV1660154 | single nucleotide variant | NM_002900.3(RBP3):c.3246-11C>T | not provided [RCV002147664] | likely benign | 10 | 47355365 | 47355365 | Human | | name |
| 156411003 | CV1966821 | single nucleotide variant | NM_002900.3(RBP3):c.3054+15A>G | not provided [RCV002608130] | likely benign | 10 | 47351553 | 47351553 | Human | | name |
| 156157658 | CV1967714 | single nucleotide variant | NM_002900.3(RBP3):c.3054+20T>C | not provided [RCV002594354] | likely benign | 10 | 47351558 | 47351558 | Human | | name |
| 156003077 | CV1987957 | single nucleotide variant | NM_002900.3(RBP3):c.3245+14G>T | not provided [RCV002618542] | likely benign | 10 | 47353529 | 47353529 | Human | | name |
| 156353673 | CV2011887 | single nucleotide variant | NM_002900.3(RBP3):c.3388+14C>A | not provided [RCV002720371] | likely benign | 10 | 47355532 | 47355532 | Human | | name |
| 155909146 | CV2077768 | single nucleotide variant | NM_002900.3(RBP3):c.3245+15G>T | not provided [RCV002858351] | likely benign | 10 | 47353530 | 47353530 | Human | | name |
| 156099896 | CV2179973 | single nucleotide variant | NM_002900.3(RBP3):c.3389-10T>C | not provided [RCV003054685] | likely benign | 10 | 47357092 | 47357092 | Human | | name |
| 405115065 | CV2953100 | single nucleotide variant | NM_002900.3(RBP3):c.3054+18C>A | not provided [RCV003666827] | likely benign | 10 | 47351556 | 47351556 | Human | | name |
| 11605686 | CV322171 | deletion | NM_002900.3(RBP3):c.-99_-97del | Retinitis Pigmentosa, Recessive [RCV000322554] | uncertain significance | 10 | 47348384 | 47348386 | Human | 1 | name |
| 597963236 | CV3753871 | single nucleotide variant | NM_002900.3(RBP3):c.3245+11A>G | not provided [RCV005082175] | likely benign | 10 | 47353526 | 47353526 | Human | | name |
| 597933217 | CV3780885 | single nucleotide variant | NM_002900.3(RBP3):c.3245+18A>G | not provided [RCV005116997] | likely benign | 10 | 47353533 | 47353533 | Human | | name |
| 11607980 | CV310374 | deletion | NM_002900.3(RBP3):c.*165_*166del | Retinitis Pigmentosa, Recessive [RCV000349500] | uncertain significance | 10 | 47357622 | 47357623 | Human | 1 | name |
| 127276407 | CV1077065 | single nucleotide variant | NM_002900.3(RBP3):c.75A>C (p.Pro25=) | not provided [RCV001407153] | likely benign | 10 | 47348559 | 47348559 | Human | | name |
| 127257130 | CV1077066 | single nucleotide variant | NM_002900.3(RBP3):c.79C>T (p.Leu27=) | not provided [RCV001401374] | likely benign | 10 | 47348563 | 47348563 | Human | | name |
| 127263086 | CV1098720 | single nucleotide variant | NM_002900.3(RBP3):c.54C>A (p.Gly18=) | not provided [RCV001439205] | likely benign | 10 | 47348538 | 47348538 | Human | | name |
| 127330203 | CV1120290 | single nucleotide variant | NM_002900.3(RBP3):c.42T>C (p.Cys14=) | not provided [RCV001470738] | likely benign | 10 | 47348526 | 47348526 | Human | | name |
| 127321488 | CV1141142 | single nucleotide variant | NM_002900.3(RBP3):c.33G>A (p.Val11=) | not provided [RCV001504769] | likely benign | 10 | 47348517 | 47348517 | Human | | name |
| 156098351 | CV2103029 | single nucleotide variant | NM_002900.3(RBP3):c.2T>C (p.Met1Thr) | not provided [RCV002913306] | uncertain significance | 10 | 47348486 | 47348486 | Human | | name |
| 11636943 | CV271532 | single nucleotide variant | NM_002900.3(RBP3):c.63C>T (p.His21=) | not provided [RCV000276446] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 47348547 | 47348547 | Human | | name |
| 11608957 | CV322173 | single nucleotide variant | NM_002900.3(RBP3):c.78C>T (p.Ser26=) | Retinitis pigmentosa [RCV000361842]|not provided [RCV000968171] | benign|likely benign|uncertain significance | 10 | 47348562 | 47348562 | Human | 2 | name |
| 597851616 | CV3803793 | single nucleotide variant | NM_002900.3(RBP3):c.87G>A (p.Leu29=) | not provided [RCV005145510] | likely benign | 10 | 47348571 | 47348571 | Human | | name |
| 15139411 | CV737491 | single nucleotide variant | NM_002900.3(RBP3):c.57C>T (p.Pro19=) | not provided [RCV000899143] | likely benign | 10 | 47348541 | 47348541 | Human | | name |
| 126751384 | CV993830 | single nucleotide variant | NM_002900.3(RBP3):c.5T>C (p.Met2Thr) | not provided [RCV001307028] | uncertain significance | 10 | 47348489 | 47348489 | Human | | name |
| 127264542 | CV1077067 | single nucleotide variant | NM_002900.3(RBP3):c.288C>T (p.Pro96=) | not provided [RCV001403317] | likely benign | 10 | 47348772 | 47348772 | Human | | name |
| 152057191 | CV1567247 | single nucleotide variant | NM_002900.3(RBP3):c.246G>C (p.Leu82=) | not provided [RCV002146372] | likely benign | 10 | 47348730 | 47348730 | Human | | name |
| 152105814 | CV1612660 | single nucleotide variant | NM_002900.3(RBP3):c.201G>A (p.Pro67=) | not provided [RCV002173701] | likely benign | 10 | 47348685 | 47348685 | Human | | name |
| 156063794 | CV1925789 | single nucleotide variant | NM_002900.3(RBP3):c.228C>T (p.Ala76=) | not provided [RCV002621035] | likely benign | 10 | 47348712 | 47348712 | Human | | name |
| 155989937 | CV2170436 | single nucleotide variant | NM_002900.3(RBP3):c.249C>T (p.Asn83=) | not provided [RCV003034280] | likely benign | 10 | 47348733 | 47348733 | Human | | name |
| 11603978 | CV315428 | single nucleotide variant | NM_002900.3(RBP3):c.258C>T (p.Arg86=) | RBP3-related disorder [RCV003957561]|Retinitis pigmentosa [RCV000304815]|not provided [RCV001486186] | likely benign|uncertain significance | 10 | 47348742 | 47348742 | Human | 3 | name , alternate_id |
| 405263046 | CV3188485 | single nucleotide variant | NM_002900.3(RBP3):c.240C>T (p.Ser80=) | Retinal dystrophy [RCV003889549] | uncertain significance | 10 | 47348724 | 47348724 | Human | 2 | name |
| 597964555 | CV3754384 | single nucleotide variant | NM_002900.3(RBP3):c.138G>A (p.Leu46=) | not provided [RCV005082491] | likely benign | 10 | 47348622 | 47348622 | Human | | name |
| 597927195 | CV3778600 | single nucleotide variant | NM_002900.3(RBP3):c.117C>T (p.Tyr39=) | not provided [RCV005131123] | likely benign | 10 | 47348601 | 47348601 | Human | | name |
| 597854995 | CV3821715 | single nucleotide variant | NM_002900.3(RBP3):c.180G>A (p.Glu60=) | not provided [RCV005174193] | likely benign | 10 | 47348664 | 47348664 | Human | | name |
| 13515670 | CV488887 | single nucleotide variant | NM_002900.3(RBP3):c.126G>A (p.Pro42=) | Retinitis pigmentosa [RCV001106854]|not provided [RCV000594582] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 47348610 | 47348610 | Human | 2 | name |
| 15123057 | CV737492 | single nucleotide variant | NM_002900.3(RBP3):c.120C>T (p.Cys40=) | Retinitis pigmentosa [RCV001107520]|not provided [RCV000896345] | benign|uncertain significance | 10 | 47348604 | 47348604 | Human | 2 | name |
| 126764074 | CV1009014 | single nucleotide variant | NM_002900.3(RBP3):c.816C>T (p.Gly272=) | not provided [RCV001319496] | likely benign|uncertain significance | 10 | 47349300 | 47349300 | Human | | name |
| 126762079 | CV1029559 | single nucleotide variant | NM_002900.3(RBP3):c.501G>A (p.Leu167=) | not provided [RCV001340874] | likely benign|uncertain significance | 10 | 47348985 | 47348985 | Human | | name |
| 127244466 | CV1077068 | single nucleotide variant | NM_002900.3(RBP3):c.349C>T (p.Leu117=) | not provided [RCV001393716] | likely benign | 10 | 47348833 | 47348833 | Human | | name |
| 127247672 | CV1077069 | single nucleotide variant | NM_002900.3(RBP3):c.372G>A (p.Glu124=) | not provided [RCV001399172] | likely benign | 10 | 47348856 | 47348856 | Human | | name |
| 127280342 | CV1077070 | single nucleotide variant | NM_002900.3(RBP3):c.417G>A (p.Pro139=) | not provided [RCV001409724] | likely benign | 10 | 47348901 | 47348901 | Human | | name |
| 127230363 | CV1077071 | single nucleotide variant | NM_002900.3(RBP3):c.492C>A (p.Ala164=) | not provided [RCV001394663] | likely benign | 10 | 47348976 | 47348976 | Human | | name |
| 127245415 | CV1077072 | single nucleotide variant | NM_002900.3(RBP3):c.531C>G (p.Val177=) | not provided [RCV001398717] | likely benign | 10 | 47349015 | 47349015 | Human | | name |
| 127232285 | CV1077073 | single nucleotide variant | NM_002900.3(RBP3):c.966G>T (p.Leu322=) | not provided [RCV001395626] | likely benign | 10 | 47349450 | 47349450 | Human | | name |
| 127251378 | CV1098721 | single nucleotide variant | NM_002900.3(RBP3):c.964C>T (p.Leu322=) | not provided [RCV001436550] | likely benign | 10 | 47349448 | 47349448 | Human | | name |
| 127267733 | CV1098722 | single nucleotide variant | NM_002900.3(RBP3):c.990C>T (p.Val330=) | not provided [RCV001429784] | likely benign | 10 | 47349474 | 47349474 | Human | | name |
| 127294639 | CV1120291 | single nucleotide variant | NM_002900.3(RBP3):c.462C>T (p.His154=) | not provided [RCV001452287] | likely benign | 10 | 47348946 | 47348946 | Human | | name |
| 127306716 | CV1120292 | single nucleotide variant | NM_002900.3(RBP3):c.585C>T (p.His195=) | not provided [RCV001455622] | likely benign | 10 | 47349069 | 47349069 | Human | | name |
| 127322000 | CV1120293 | single nucleotide variant | NM_002900.3(RBP3):c.783A>T (p.Gly261=) | not provided [RCV001467429] | likely benign | 10 | 47349267 | 47349267 | Human | | name |
| 127303198 | CV1120294 | single nucleotide variant | NM_002900.3(RBP3):c.790C>T (p.Leu264=) | not provided [RCV001454659] | likely benign | 10 | 47349274 | 47349274 | Human | | name |
| 127334898 | CV1120295 | single nucleotide variant | NM_002900.3(RBP3):c.816C>G (p.Gly272=) | not provided [RCV001473912] | likely benign | 10 | 47349300 | 47349300 | Human | | name |
| 127329145 | CV1120296 | single nucleotide variant | NM_002900.3(RBP3):c.861G>T (p.Gly287=) | not provided [RCV001470004] | likely benign | 10 | 47349345 | 47349345 | Human | | name |
| 127326763 | CV1141143 | single nucleotide variant | NM_002900.3(RBP3):c.351G>A (p.Leu117=) | RBP3-related disorder [RCV003956120]|not provided [RCV001506400] | likely benign | 10 | 47348835 | 47348835 | Human | 1 | name , alternate_id |
| 127325896 | CV1141144 | single nucleotide variant | NM_002900.3(RBP3):c.369T>C (p.His123=) | not provided [RCV001485910] | likely benign | 10 | 47348853 | 47348853 | Human | | name |
| 127337788 | CV1141145 | single nucleotide variant | NM_002900.3(RBP3):c.753G>A (p.Arg251=) | not provided [RCV001493079] | likely benign | 10 | 47349237 | 47349237 | Human | | name |
| 151859951 | CV1344080 | single nucleotide variant | NM_002900.3(RBP3):c.508C>A (p.Arg170=) | not provided [RCV002034240] | likely benign|uncertain significance | 10 | 47348992 | 47348992 | Human | | name |
| 151775922 | CV1358582 | single nucleotide variant | NM_002900.3(RBP3):c.80T>G (p.Leu27Arg) | not provided [RCV001950608] | uncertain significance | 10 | 47348564 | 47348564 | Human | | name |
| 151790980 | CV1394440 | single nucleotide variant | NM_002900.3(RBP3):c.41G>A (p.Cys14Tyr) | Inborn genetic diseases [RCV002545390]|not provided [RCV002047104] | uncertain significance | 10 | 47348525 | 47348525 | Human | 1 | name |
| 151892850 | CV1411508 | single nucleotide variant | NM_002900.3(RBP3):c.73C>A (p.Pro25Thr) | Inborn genetic diseases [RCV004671472]|not provided [RCV001944543] | uncertain significance | 10 | 47348557 | 47348557 | Human | 1 | name |
| 151861926 | CV1423508 | single nucleotide variant | NM_002900.3(RBP3):c.97A>G (p.Lys33Glu) | not provided [RCV001997239] | uncertain significance | 10 | 47348581 | 47348581 | Human | | name |
| 151806855 | CV1462620 | single nucleotide variant | NM_002900.3(RBP3):c.711C>T (p.Gly237=) | not provided [RCV001991451] | likely benign|uncertain significance | 10 | 47349195 | 47349195 | Human | | name |
| 152109289 | CV1530076 | single nucleotide variant | NM_002900.3(RBP3):c.318C>T (p.Thr106=) | not provided [RCV002196557] | likely benign | 10 | 47348802 | 47348802 | Human | | name |
| 152056773 | CV1567167 | single nucleotide variant | NM_002900.3(RBP3):c.900G>A (p.Gly300=) | not provided [RCV002146328] | likely benign | 10 | 47349384 | 47349384 | Human | | name |
| 152064647 | CV1575417 | single nucleotide variant | NM_002900.3(RBP3):c.885G>C (p.Thr295=) | not provided [RCV002110604] | likely benign | 10 | 47349369 | 47349369 | Human | | name |
| 152061164 | CV1585106 | single nucleotide variant | NM_002900.3(RBP3):c.939G>A (p.Leu313=) | not provided [RCV002073694] | likely benign | 10 | 47349423 | 47349423 | Human | | name |
| 152175294 | CV1586316 | single nucleotide variant | NM_002900.3(RBP3):c.498G>A (p.Val166=) | not provided [RCV002184824] | likely benign | 10 | 47348982 | 47348982 | Human | | name |
| 152094718 | CV1603684 | single nucleotide variant | NM_002900.3(RBP3):c.759C>T (p.Ile253=) | not provided [RCV002213207] | likely benign | 10 | 47349243 | 47349243 | Human | | name |
| 152033882 | CV1621397 | single nucleotide variant | NM_002900.3(RBP3):c.837G>T (p.Thr279=) | not provided [RCV002205255] | likely benign | 10 | 47349321 | 47349321 | Human | | name |
| 152169380 | CV1637031 | single nucleotide variant | NM_002900.3(RBP3):c.606C>T (p.Arg202=) | not provided [RCV002182775] | likely benign | 10 | 47349090 | 47349090 | Human | | name |
| 152073234 | CV1637969 | single nucleotide variant | NM_002900.3(RBP3):c.408C>T (p.Asp136=) | not provided [RCV002192071] | likely benign | 10 | 47348892 | 47348892 | Human | | name |
| 152126240 | CV1646321 | single nucleotide variant | NM_002900.3(RBP3):c.780G>A (p.Gly260=) | not provided [RCV002217445] | likely benign | 10 | 47349264 | 47349264 | Human | | name |
| 152064112 | CV1652218 | single nucleotide variant | NM_002900.3(RBP3):c.984G>A (p.Gly328=) | not provided [RCV002090646] | likely benign | 10 | 47349468 | 47349468 | Human | | name |
| 156252208 | CV1883895 | single nucleotide variant | NM_002900.3(RBP3):c.885G>A (p.Thr295=) | not provided [RCV003086144] | likely benign | 10 | 47349369 | 47349369 | Human | | name |
| 10049423 | CV190404 | single nucleotide variant | NM_002900.3(RBP3):c.837G>A (p.Thr279=) | Retinal dystrophy [RCV003888614]|Retinitis pigmentosa 66 [RCV001795291]|Retinitis pigmentosa [RCV000300475]|not provided [RCV001517121]|not specified [RCV000173287] | benign|likely benign | 10 | 47349321 | 47349321 | Human | 5 | name |
| 156255795 | CV1977333 | single nucleotide variant | NM_002900.3(RBP3):c.582G>A (p.Leu194=) | not provided [RCV002597619] | likely benign | 10 | 47349066 | 47349066 | Human | | name |
| 156181622 | CV2001391 | single nucleotide variant | NM_002900.3(RBP3):c.669C>A (p.Ala223=) | not provided [RCV002643040] | likely benign | 10 | 47349153 | 47349153 | Human | | name |
| 155908097 | CV2017433 | single nucleotide variant | NM_002900.3(RBP3):c.984G>T (p.Gly328=) | not provided [RCV002681521] | likely benign | 10 | 47349468 | 47349468 | Human | | name |
| 156209736 | CV2018813 | single nucleotide variant | NM_002900.3(RBP3):c.948C>T (p.Ala316=) | not provided [RCV002700581] | likely benign | 10 | 47349432 | 47349432 | Human | | name |
| 155950823 | CV2026205 | single nucleotide variant | NM_002900.3(RBP3):c.426G>A (p.Glu142=) | not provided [RCV002730672] | likely benign | 10 | 47348910 | 47348910 | Human | | name |
| 10768783 | CV204535 | single nucleotide variant | NM_002900.3(RBP3):c.53G>T (p.Gly18Val) | Retinitis pigmentosa 66 [RCV000206962] | uncertain significance | 10 | 47348537 | 47348537 | Human | 1 | name |
| 156267258 | CV2059661 | single nucleotide variant | NM_002900.3(RBP3):c.603C>T (p.Asn201=) | not provided [RCV002806536] | likely benign | 10 | 47349087 | 47349087 | Human | | name |
| 156014990 | CV2134096 | single nucleotide variant | NM_002900.3(RBP3):c.864C>T (p.Pro288=) | not provided [RCV003017944] | likely benign | 10 | 47349348 | 47349348 | Human | | name |
| 156272089 | CV2136601 | single nucleotide variant | NM_002900.3(RBP3):c.315C>T (p.Leu105=) | not provided [RCV003009304] | likely benign | 10 | 47348799 | 47348799 | Human | | name |
| 156017395 | CV2155232 | single nucleotide variant | NM_002900.3(RBP3):c.543C>T (p.Pro181=) | not provided [RCV003018061] | likely benign | 10 | 47349027 | 47349027 | Human | | name |
| 156292636 | CV2156481 | single nucleotide variant | NM_002900.3(RBP3):c.975C>T (p.Ala325=) | not provided [RCV003010029] | likely benign | 10 | 47349459 | 47349459 | Human | | name |
| 156003848 | CV2166548 | single nucleotide variant | NM_002900.3(RBP3):c.705C>G (p.Thr235=) | not provided [RCV003017401] | likely benign | 10 | 47349189 | 47349189 | Human | | name |
| 156070156 | CV2167326 | single nucleotide variant | NM_002900.3(RBP3):c.672C>T (p.Asp224=) | not provided [RCV003020016] | likely benign | 10 | 47349156 | 47349156 | Human | | name |
| 156380027 | CV2178988 | single nucleotide variant | NM_002900.3(RBP3):c.951G>A (p.Leu317=) | not provided [RCV003050415] | likely benign | 10 | 47349435 | 47349435 | Human | | name |
| 11641935 | CV268645 | single nucleotide variant | NM_002900.3(RBP3):c.816C>A (p.Gly272=) | not provided [RCV000880112]|not specified [RCV000364801] | likely benign | 10 | 47349300 | 47349300 | Human | | name |
| 405056622 | CV2931942 | single nucleotide variant | NM_002900.3(RBP3):c.705C>T (p.Thr235=) | not provided [RCV003580091] | likely benign | 10 | 47349189 | 47349189 | Human | | name |
| 402518945 | CV2936579 | single nucleotide variant | NM_002900.3(RBP3):c.861G>A (p.Gly287=) | not provided [RCV003663102] | likely benign | 10 | 47349345 | 47349345 | Human | | name |
| 405221258 | CV2969760 | single nucleotide variant | NM_002900.3(RBP3):c.414C>A (p.Val138=) | not provided [RCV003680619] | likely benign | 10 | 47348898 | 47348898 | Human | | name |
| 405217756 | CV2972272 | single nucleotide variant | NM_002900.3(RBP3):c.843C>G (p.Pro281=) | not provided [RCV003680178] | likely benign | 10 | 47349327 | 47349327 | Human | | name |
| 402516634 | CV2992108 | single nucleotide variant | NM_002900.3(RBP3):c.637T>C (p.Leu213=) | not provided [RCV003689917] | likely benign | 10 | 47349121 | 47349121 | Human | | name |
| 11611976 | CV310343 | single nucleotide variant | NM_002900.3(RBP3):c.927C>T (p.Ala309=) | Retinal dystrophy [RCV003888712]|Retinitis pigmentosa [RCV000401701]|not provided [RCV000961167] | benign|uncertain significance | 10 | 47349411 | 47349411 | Human | 4 | name |
| 405121866 | CV3131567 | single nucleotide variant | NM_002900.3(RBP3):c.499C>T (p.Leu167=) | not provided [RCV003837431] | likely benign | 10 | 47348983 | 47348983 | Human | | name |
| 405217850 | CV3143716 | single nucleotide variant | NM_002900.3(RBP3):c.669C>T (p.Ala223=) | not provided [RCV003846686] | likely benign | 10 | 47349153 | 47349153 | Human | | name |
| 405072065 | CV3145345 | single nucleotide variant | NM_002900.3(RBP3):c.870T>C (p.Gly290=) | not provided [RCV003850930] | likely benign | 10 | 47349354 | 47349354 | Human | | name |
| 11598952 | CV322175 | single nucleotide variant | NM_002900.3(RBP3):c.717C>T (p.Ala239=) | Retinitis Pigmentosa, Recessive [RCV000261360]|not provided [RCV002059552] | likely benign|uncertain significance | 10 | 47349201 | 47349201 | Human | 1 | name |
| 597919668 | CV3737988 | single nucleotide variant | NM_002900.3(RBP3):c.708G>A (p.Arg236=) | not provided [RCV005074587] | likely benign | 10 | 47349192 | 47349192 | Human | | name |
| 597934256 | CV3750424 | single nucleotide variant | NM_002900.3(RBP3):c.705C>A (p.Thr235=) | not provided [RCV005076349] | likely benign | 10 | 47349189 | 47349189 | Human | | name |
| 597921182 | CV3811819 | single nucleotide variant | NM_002900.3(RBP3):c.984G>C (p.Gly328=) | not provided [RCV005155650] | likely benign | 10 | 47349468 | 47349468 | Human | | name |
| 597840477 | CV3825326 | single nucleotide variant | NM_002900.3(RBP3):c.402G>A (p.Arg134=) | not provided [RCV005172009] | likely benign | 10 | 47348886 | 47348886 | Human | | name |
| 597975971 | CV3829004 | single nucleotide variant | NM_002900.3(RBP3):c.618C>T (p.Thr206=) | not provided [RCV005169453] | likely benign | 10 | 47349102 | 47349102 | Human | | name |
| 598128633 | CV3887838 | single nucleotide variant | NM_002900.3(RBP3):c.381G>A (p.Glu127=) | not provided [RCV005244012] | likely benign | 10 | 47348865 | 47348865 | Human | | name |
| 13515323 | CV489433 | single nucleotide variant | NM_002900.3(RBP3):c.843C>T (p.Pro281=) | Retinal dystrophy [RCV003889929]|Retinitis pigmentosa [RCV001106850]|not provided [RCV000888334]|not specified [RCV000594133] | benign|likely benign|uncertain significance | 10 | 47349327 | 47349327 | Human | 4 | name |
| 15195956 | CV723954 | single nucleotide variant | NM_002900.3(RBP3):c.924G>A (p.Pro308=) | Retinitis pigmentosa [RCV001105737]|not provided [RCV000889648] | benign | 10 | 47349408 | 47349408 | Human | 2 | name |
| 15167190 | CV752107 | single nucleotide variant | NM_002900.3(RBP3):c.729G>A (p.Ala243=) | not provided [RCV000927036] | likely benign | 10 | 47349213 | 47349213 | Human | | name |
| 15113726 | CV767749 | single nucleotide variant | NM_002900.3(RBP3):c.411C>T (p.Ser137=) | Retinal dystrophy [RCV003890092]|not provided [RCV000939180] | likely benign | 10 | 47348895 | 47348895 | Human | 2 | name |
| 15107137 | CV783593 | single nucleotide variant | NM_002900.3(RBP3):c.396C>T (p.Tyr132=) | not provided [RCV000976763] | likely benign | 10 | 47348880 | 47348880 | Human | | name |
| 15121088 | CV783594 | single nucleotide variant | NM_002900.3(RBP3):c.519A>G (p.Thr173=) | not provided [RCV000979405] | likely benign | 10 | 47349003 | 47349003 | Human | | name |
| 15103427 | CV783595 | single nucleotide variant | NM_002900.3(RBP3):c.972C>T (p.Ser324=) | RBP3-related disorder [RCV003953354]|not provided [RCV000976015] | likely benign | 10 | 47349456 | 47349456 | Human | 1 | name , alternate_id |
| 28906795 | CV865884 | single nucleotide variant | NM_002900.3(RBP3):c.579C>T (p.Ile193=) | Retinitis pigmentosa [RCV001106852]|not provided [RCV001483780] | likely benign|uncertain significance | 10 | 47349063 | 47349063 | Human | 2 | name |
| 38479330 | CV946901 | deletion | NM_002900.3(RBP3):c.288del (p.Glu97fs) | not provided [RCV001234247] | pathogenic | 10 | 47348768 | 47348768 | Human | | name |
| 38491504 | CV956057 | single nucleotide variant | NM_002900.3(RBP3):c.93G>A (p.Met31Ile) | not provided [RCV001239489] | uncertain significance | 10 | 47348577 | 47348577 | Human | | name |
| 126754021 | CV993836 | single nucleotide variant | NM_002900.3(RBP3):c.435C>T (p.Ser145=) | not provided [RCV001307532] | likely benign|uncertain significance | 10 | 47348919 | 47348919 | Human | | name |
| 126739943 | CV1009008 | single nucleotide variant | NM_002900.3(RBP3):c.200C>T (p.Pro67Leu) | Inborn genetic diseases [RCV003263961]|not provided [RCV001325127] | uncertain significance | 10 | 47348684 | 47348684 | Human | 1 | name |
| 126768436 | CV1009009 | single nucleotide variant | NM_002900.3(RBP3):c.293C>T (p.Pro98Leu) | not provided [RCV001321362] | uncertain significance | 10 | 47348777 | 47348777 | Human | | name |
| 126758756 | CV1009034 | single nucleotide variant | NM_002900.3(RBP3):c.2625C>T (p.Gly875=) | not provided [RCV001317867] | likely benign|uncertain significance | 10 | 47351109 | 47351109 | Human | | name |
| 126768350 | CV1029557 | single nucleotide variant | NM_002900.3(RBP3):c.289G>A (p.Glu97Lys) | not provided [RCV001343307] | uncertain significance | 10 | 47348773 | 47348773 | Human | | name |
| 126924776 | CV1046548 | single nucleotide variant | NM_002900.3(RBP3):c.224C>T (p.Thr75Ile) | not provided [RCV001367422] | uncertain significance | 10 | 47348708 | 47348708 | Human | | name |
| 126921522 | CV1046549 | single nucleotide variant | NM_002900.3(RBP3):c.296C>T (p.Pro99Leu) | not provided [RCV001363592] | uncertain significance | 10 | 47348780 | 47348780 | Human | | name |
| 127230259 | CV1077074 | single nucleotide variant | NM_002900.3(RBP3):c.1035C>T (p.Asp345=) | not provided [RCV001394647] | likely benign | 10 | 47349519 | 47349519 | Human | | name |
| 127252889 | CV1077075 | single nucleotide variant | NM_002900.3(RBP3):c.1050G>A (p.Leu350=) | not provided [RCV001400432] | likely benign | 10 | 47349534 | 47349534 | Human | | name |
| 127254679 | CV1077076 | single nucleotide variant | NM_002900.3(RBP3):c.1065C>T (p.Ala355=) | not provided [RCV001400849] | likely benign | 10 | 47349549 | 47349549 | Human | | name |
| 127232068 | CV1077077 | single nucleotide variant | NM_002900.3(RBP3):c.1206C>T (p.Asp402=) | RBP3-related disorder [RCV003953708]|not provided [RCV001395547] | likely benign | 10 | 47349690 | 47349690 | Human | 1 | name , alternate_id |
| 127254822 | CV1077078 | single nucleotide variant | NM_002900.3(RBP3):c.1617G>A (p.Leu539=) | not provided [RCV001400874] | likely benign | 10 | 47350101 | 47350101 | Human | | name |
| 127281648 | CV1077079 | single nucleotide variant | NM_002900.3(RBP3):c.1674G>T (p.Ser558=) | not provided [RCV001410618] | likely benign | 10 | 47350158 | 47350158 | Human | | name |
| 127262027 | CV1077080 | single nucleotide variant | NM_002900.3(RBP3):c.1888C>T (p.Leu630=) | RBP3-related disorder [RCV003953731]|not provided [RCV001402546] | likely benign | 10 | 47350372 | 47350372 | Human | 1 | name , alternate_id |
| 127252930 | CV1077081 | single nucleotide variant | NM_002900.3(RBP3):c.2124G>A (p.Leu708=) | not provided [RCV001400438] | likely benign | 10 | 47350608 | 47350608 | Human | | name |
| 127257040 | CV1077082 | single nucleotide variant | NM_002900.3(RBP3):c.2463G>A (p.Thr821=) | not provided [RCV001401358] | likely benign | 10 | 47350947 | 47350947 | Human | | name |
| 127232650 | CV1077083 | single nucleotide variant | NM_002900.3(RBP3):c.2919C>A (p.Ser973=) | not provided [RCV001395801] | likely benign | 10 | 47351403 | 47351403 | Human | | name |
| 127283754 | CV1077084 | single nucleotide variant | NM_002900.3(RBP3):c.2940C>T (p.Ala980=) | not provided [RCV001412000] | likely benign | 10 | 47351424 | 47351424 | Human | | name |
| 127252467 | CV1098723 | single nucleotide variant | NM_002900.3(RBP3):c.1170C>T (p.Ile390=) | Retinal dystrophy [RCV003888132]|not provided [RCV001425836] | likely benign | 10 | 47349654 | 47349654 | Human | 2 | name |
| 127251741 | CV1098724 | single nucleotide variant | NM_002900.3(RBP3):c.1197C>T (p.Pro399=) | not provided [RCV001425677] | likely benign | 10 | 47349681 | 47349681 | Human | | name |
| 127245191 | CV1098725 | single nucleotide variant | NM_002900.3(RBP3):c.1290C>T (p.Phe430=) | not provided [RCV001435173] | likely benign | 10 | 47349774 | 47349774 | Human | | name |
| 127250981 | CV1098726 | single nucleotide variant | NM_002900.3(RBP3):c.1347C>T (p.Asp449=) | not provided [RCV001425476] | likely benign | 10 | 47349831 | 47349831 | Human | | name |
| 127232518 | CV1098727 | single nucleotide variant | NM_002900.3(RBP3):c.1386C>T (p.Arg462=) | not provided [RCV001421341] | likely benign | 10 | 47349870 | 47349870 | Human | | name |
| 127266361 | CV1098728 | single nucleotide variant | NM_002900.3(RBP3):c.1479G>A (p.Leu493=) | not provided [RCV001429376] | likely benign | 10 | 47349963 | 47349963 | Human | | name |
| 127239107 | CV1098729 | single nucleotide variant | NM_002900.3(RBP3):c.1599C>T (p.Thr533=) | not provided [RCV001433908] | likely benign | 10 | 47350083 | 47350083 | Human | | name |
| 127275894 | CV1098730 | single nucleotide variant | NM_002900.3(RBP3):c.1635C>T (p.Thr545=) | not provided [RCV001443546] | likely benign | 10 | 47350119 | 47350119 | Human | | name |
| 127274551 | CV1098731 | single nucleotide variant | NM_002900.3(RBP3):c.1710G>T (p.Ala570=) | not provided [RCV001442891] | likely benign | 10 | 47350194 | 47350194 | Human | | name |
| 127278813 | CV1098732 | single nucleotide variant | NM_002900.3(RBP3):c.1866C>A (p.Ala622=) | RBP3-related disorder [RCV003938789]|not provided [RCV001445334] | likely benign | 10 | 47350350 | 47350350 | Human | 1 | name , alternate_id |
| 127234860 | CV1098733 | single nucleotide variant | NM_002900.3(RBP3):c.1869G>A (p.Leu623=) | not provided [RCV001432975] | likely benign | 10 | 47350353 | 47350353 | Human | | name |
| 127273832 | CV1098734 | single nucleotide variant | NM_002900.3(RBP3):c.2325G>A (p.Thr775=) | not provided [RCV001431734] | likely benign | 10 | 47350809 | 47350809 | Human | | name |
| 127255324 | CV1098736 | single nucleotide variant | NM_002900.3(RBP3):c.2502C>T (p.Tyr834=) | not provided [RCV001426531] | likely benign | 10 | 47350986 | 47350986 | Human | | name |
| 127233411 | CV1098737 | single nucleotide variant | NM_002900.3(RBP3):c.2763C>T (p.Ser921=) | not provided [RCV001421758] | likely benign | 10 | 47351247 | 47351247 | Human | | name |
| 127275308 | CV1098738 | single nucleotide variant | NM_002900.3(RBP3):c.2922G>A (p.Arg974=) | not provided [RCV001443275] | likely benign | 10 | 47351406 | 47351406 | Human | | name |
| 127308917 | CV1120297 | single nucleotide variant | NM_002900.3(RBP3):c.1026G>A (p.Thr342=) | not provided [RCV001456187] | likely benign | 10 | 47349510 | 47349510 | Human | | name |
| 127306809 | CV1120298 | single nucleotide variant | NM_002900.3(RBP3):c.1215C>T (p.Ala405=) | not provided [RCV001462860] | likely benign | 10 | 47349699 | 47349699 | Human | | name |
| 127337574 | CV1120299 | single nucleotide variant | NM_002900.3(RBP3):c.1413G>A (p.Thr471=) | not provided [RCV001475743] | likely benign | 10 | 47349897 | 47349897 | Human | | name |
| 127329909 | CV1120300 | single nucleotide variant | NM_002900.3(RBP3):c.1482C>T (p.Ser494=) | not provided [RCV001470484] | likely benign | 10 | 47349966 | 47349966 | Human | | name |
| 127323195 | CV1120301 | single nucleotide variant | NM_002900.3(RBP3):c.1968C>T (p.Val656=) | not provided [RCV001467826] | likely benign | 10 | 47350452 | 47350452 | Human | | name |
| 127337246 | CV1120302 | single nucleotide variant | NM_002900.3(RBP3):c.2571C>T (p.His857=) | not provided [RCV001475529] | likely benign | 10 | 47351055 | 47351055 | Human | | name |
| 127329161 | CV1120303 | single nucleotide variant | NM_002900.3(RBP3):c.2829G>A (p.Thr943=) | not provided [RCV001470011] | likely benign | 10 | 47351313 | 47351313 | Human | | name |
| 127311486 | CV1120304 | single nucleotide variant | NM_002900.3(RBP3):c.2946C>T (p.Ala982=) | not provided [RCV001464170] | likely benign | 10 | 47351430 | 47351430 | Human | | name |
| 127287016 | CV1141146 | single nucleotide variant | NM_002900.3(RBP3):c.1803T>C (p.Asn601=) | not provided [RCV001494670] | likely benign | 10 | 47350287 | 47350287 | Human | | name |
| 127300521 | CV1141147 | single nucleotide variant | NM_002900.3(RBP3):c.1842T>C (p.Asp614=) | not provided [RCV001498610] | likely benign | 10 | 47350326 | 47350326 | Human | | name |
| 127323262 | CV1141148 | single nucleotide variant | NM_002900.3(RBP3):c.2103G>A (p.Val701=) | not provided [RCV001485186] | likely benign | 10 | 47350587 | 47350587 | Human | | name |
| 127321006 | CV1141149 | single nucleotide variant | NM_002900.3(RBP3):c.2448C>T (p.Ala816=) | not provided [RCV001484408] | likely benign | 10 | 47350932 | 47350932 | Human | | name |
| 127333617 | CV1141150 | single nucleotide variant | NM_002900.3(RBP3):c.2584C>T (p.Leu862=) | not provided [RCV001490293] | likely benign | 10 | 47351068 | 47351068 | Human | | name |
| 127336338 | CV1141151 | single nucleotide variant | NM_002900.3(RBP3):c.2805C>G (p.Ala935=) | not provided [RCV001492089] | likely benign | 10 | 47351289 | 47351289 | Human | | name |
| 127330462 | CV1141152 | single nucleotide variant | NM_002900.3(RBP3):c.2865C>T (p.Ala955=) | not provided [RCV001488173] | likely benign | 10 | 47351349 | 47351349 | Human | | name |
| 127314499 | CV1156416 | single nucleotide variant | NM_002900.3(RBP3):c.2088C>T (p.Asp696=) | not provided [RCV001519648] | benign | 10 | 47350572 | 47350572 | Human | | name |
| 151726068 | CV1337678 | deletion | NM_002900.3(RBP3):c.529del (p.Val177fs) | not provided [RCV001945535] | pathogenic | 10 | 47349012 | 47349012 | Human | | name |
| 151838531 | CV1344790 | single nucleotide variant | NM_002900.3(RBP3):c.170A>T (p.Lys57Met) | not provided [RCV002015055] | uncertain significance | 10 | 47348654 | 47348654 | Human | | name |
| 151840432 | CV1345880 | single nucleotide variant | NM_002900.3(RBP3):c.1095G>A (p.Glu365=) | not provided [RCV001902772] | likely benign|uncertain significance | 10 | 47349579 | 47349579 | Human | | name |
| 151879075 | CV1359811 | single nucleotide variant | NM_002900.3(RBP3):c.257G>A (p.Arg86His) | not provided [RCV002036620] | uncertain significance | 10 | 47348741 | 47348741 | Human | | name |
| 151777212 | CV1381097 | single nucleotide variant | NM_002900.3(RBP3):c.1335T>C (p.Asp445=) | not provided [RCV002045799] | likely benign|uncertain significance | 10 | 47349819 | 47349819 | Human | | name |
| 151861598 | CV1386291 | single nucleotide variant | NM_002900.3(RBP3):c.215G>A (p.Ser72Asn) | not provided [RCV001905351] | uncertain significance | 10 | 47348699 | 47348699 | Human | | name |
| 151818483 | CV1397485 | single nucleotide variant | NM_002900.3(RBP3):c.2373G>A (p.Thr791=) | not provided [RCV001992533] | likely benign|uncertain significance | 10 | 47350857 | 47350857 | Human | | name |
| 151824678 | CV1442641 | single nucleotide variant | NM_002900.3(RBP3):c.265A>G (p.Ile89Val) | not provided [RCV002013726] | uncertain significance | 10 | 47348749 | 47348749 | Human | | name |
| 151850677 | CV1460296 | single nucleotide variant | NM_002900.3(RBP3):c.179A>G (p.Glu60Gly) | not provided [RCV001904054] | uncertain significance | 10 | 47348663 | 47348663 | Human | | name |
| 151888775 | CV1468476 | single nucleotide variant | NM_002900.3(RBP3):c.118T>G (p.Cys40Gly) | not provided [RCV002001153] | uncertain significance | 10 | 47348602 | 47348602 | Human | | name |
| 151737764 | CV1469462 | single nucleotide variant | NM_002900.3(RBP3):c.2817G>A (p.Thr939=) | not provided [RCV002041909] | likely benign|uncertain significance | 10 | 47351301 | 47351301 | Human | | name |
| 151890934 | CV1473168 | deletion | NM_002900.3(RBP3):c.901del (p.Val301fs) | not provided [RCV001888544] | pathogenic | 10 | 47349382 | 47349382 | Human | | name |
| 151711899 | CV1474328 | single nucleotide variant | NM_002900.3(RBP3):c.229G>A (p.Gly77Arg) | Inborn genetic diseases [RCV004953287]|not provided [RCV001908187] | uncertain significance | 10 | 47348713 | 47348713 | Human | 1 | name |
| 151748153 | CV1478781 | single nucleotide variant | NM_002900.3(RBP3):c.206C>T (p.Thr69Met) | not provided [RCV002023077] | uncertain significance | 10 | 47348690 | 47348690 | Human | | name |
| 151783643 | CV1508317 | single nucleotide variant | NM_002900.3(RBP3):c.256C>T (p.Arg86Cys) | not provided [RCV002009967] | uncertain significance | 10 | 47348740 | 47348740 | Human | | name |
| 152098708 | CV1530920 | single nucleotide variant | NM_002900.3(RBP3):c.2361C>A (p.Gly787=) | not provided [RCV002132978] | likely benign | 10 | 47350845 | 47350845 | Human | | name |
| 152052889 | CV1531864 | single nucleotide variant | NM_002900.3(RBP3):c.1857C>T (p.Ala619=) | RBP3-related disorder [RCV004731226]|Retinal dystrophy [RCV003889020]|not provided [RCV002072601] | likely benign|uncertain significance | 10 | 47350341 | 47350341 | Human | 3 | name , alternate_id |
| 152059851 | CV1532796 | single nucleotide variant | NM_002900.3(RBP3):c.1527C>G (p.Thr509=) | not provided [RCV002208520] | likely benign | 10 | 47350011 | 47350011 | Human | | name |
| 152152486 | CV1545914 | single nucleotide variant | NM_002900.3(RBP3):c.1098A>G (p.Glu366=) | RBP3-related disorder [RCV003984170]|not provided [RCV002179668] | likely benign | 10 | 47349582 | 47349582 | Human | 1 | name , alternate_id |
| 152032331 | CV1548974 | single nucleotide variant | NM_002900.3(RBP3):c.1854G>C (p.Leu618=) | not provided [RCV002086556] | likely benign | 10 | 47350338 | 47350338 | Human | | name |
| 152165701 | CV1556962 | single nucleotide variant | NM_002900.3(RBP3):c.1677G>T (p.Leu559=) | not provided [RCV002181790] | likely benign | 10 | 47350161 | 47350161 | Human | | name |
| 152150199 | CV1559428 | single nucleotide variant | NM_002900.3(RBP3):c.1755C>G (p.Pro585=) | not provided [RCV002220689] | likely benign | 10 | 47350239 | 47350239 | Human | | name |
| 152029869 | CV1565835 | single nucleotide variant | NM_002900.3(RBP3):c.2817G>T (p.Thr939=) | not provided [RCV002085951] | likely benign | 10 | 47351301 | 47351301 | Human | | name |
| 152067904 | CV1566978 | single nucleotide variant | NM_002900.3(RBP3):c.2979C>T (p.Ser993=) | Retinal dystrophy [RCV003889041]|not provided [RCV002091178] | likely benign|uncertain significance | 10 | 47351463 | 47351463 | Human | 2 | name |
| 152091752 | CV1567663 | single nucleotide variant | NM_002900.3(RBP3):c.1623C>T (p.Thr541=) | not provided [RCV002212823] | likely benign | 10 | 47350107 | 47350107 | Human | | name |
| 152127480 | CV1572092 | single nucleotide variant | NM_002900.3(RBP3):c.1527C>T (p.Thr509=) | not provided [RCV002217608] | likely benign | 10 | 47350011 | 47350011 | Human | | name |
| 152087387 | CV1574064 | single nucleotide variant | NM_002900.3(RBP3):c.2280G>A (p.Val760=) | not provided [RCV002150121] | likely benign | 10 | 47350764 | 47350764 | Human | | name |
| 152070147 | CV1579728 | single nucleotide variant | NM_002900.3(RBP3):c.2772T>C (p.Leu924=) | not provided [RCV002074992] | likely benign | 10 | 47351256 | 47351256 | Human | | name |
| 152089951 | CV1580746 | single nucleotide variant | NM_002900.3(RBP3):c.1993C>A (p.Arg665=) | not provided [RCV002094032] | likely benign | 10 | 47350477 | 47350477 | Human | | name |
| 152146130 | CV1582763 | single nucleotide variant | NM_002900.3(RBP3):c.1602A>G (p.Gln534=) | not provided [RCV002201265] | likely benign | 10 | 47350086 | 47350086 | Human | | name |
| 152068835 | CV1589095 | single nucleotide variant | NM_002900.3(RBP3):c.2277C>T (p.Ala759=) | not provided [RCV002209713] | likely benign | 10 | 47350761 | 47350761 | Human | | name |
| 152113147 | CV1595309 | single nucleotide variant | NM_002900.3(RBP3):c.1137G>A (p.Ala379=) | not provided [RCV002116819] | likely benign | 10 | 47349621 | 47349621 | Human | | name |
| 152128431 | CV1596548 | single nucleotide variant | NM_002900.3(RBP3):c.1710G>A (p.Ala570=) | not provided [RCV002118757] | likely benign | 10 | 47350194 | 47350194 | Human | | name |
| 152171982 | CV1597930 | single nucleotide variant | NM_002900.3(RBP3):c.2031G>C (p.Val677=) | not provided [RCV002162297] | likely benign | 10 | 47350515 | 47350515 | Human | | name |
| 152167794 | CV1611707 | single nucleotide variant | NM_002900.3(RBP3):c.2829G>T (p.Thr943=) | not provided [RCV002182261] | likely benign | 10 | 47351313 | 47351313 | Human | | name |
| 152049934 | CV1618699 | single nucleotide variant | NM_002900.3(RBP3):c.2598G>A (p.Thr866=) | not provided [RCV002166744] | likely benign | 10 | 47351082 | 47351082 | Human | | name |
| 152131851 | CV1621229 | single nucleotide variant | NM_002900.3(RBP3):c.1299G>A (p.Ser433=) | not provided [RCV002218179] | likely benign | 10 | 47349783 | 47349783 | Human | | name |
| 152052226 | CV1622600 | single nucleotide variant | NM_002900.3(RBP3):c.2145A>G (p.Pro715=) | not provided [RCV002207664] | likely benign | 10 | 47350629 | 47350629 | Human | | name |
| 152129924 | CV1630864 | single nucleotide variant | NM_002900.3(RBP3):c.2002C>T (p.Leu668=) | not provided [RCV002118949] | likely benign | 10 | 47350486 | 47350486 | Human | | name |
| 152093670 | CV1634184 | single nucleotide variant | NM_002900.3(RBP3):c.1788C>T (p.Leu596=) | not provided [RCV002213070] | likely benign | 10 | 47350272 | 47350272 | Human | | name |
| 152034838 | CV1639581 | single nucleotide variant | NM_002900.3(RBP3):c.2475C>G (p.Thr825=) | not provided [RCV002187322] | likely benign | 10 | 47350959 | 47350959 | Human | | name |
| 152040480 | CV1644141 | single nucleotide variant | NM_002900.3(RBP3):c.1755C>T (p.Pro585=) | not provided [RCV002126016] | likely benign | 10 | 47350239 | 47350239 | Human | | name |
| 152108979 | CV1648402 | single nucleotide variant | NM_002900.3(RBP3):c.1303C>T (p.Leu435=) | not provided [RCV002116297] | likely benign | 10 | 47349787 | 47349787 | Human | | name |
| 152170425 | CV1651079 | single nucleotide variant | NM_002900.3(RBP3):c.2742C>T (p.Pro914=) | RBP3-related disorder [RCV003951242]|not provided [RCV002143112] | likely benign | 10 | 47351226 | 47351226 | Human | 1 | name , alternate_id |
| 152028757 | CV1655385 | single nucleotide variant | NM_002900.3(RBP3):c.1551G>A (p.Thr517=) | not provided [RCV002105348] | likely benign | 10 | 47350035 | 47350035 | Human | | name |
| 152118323 | CV1659014 | single nucleotide variant | NM_002900.3(RBP3):c.1461T>C (p.Ser487=) | not provided [RCV002175230] | likely benign | 10 | 47349945 | 47349945 | Human | | name |
| 152052858 | CV1659214 | single nucleotide variant | NM_002900.3(RBP3):c.1173G>C (p.Gly391=) | not provided [RCV002189623] | likely benign | 10 | 47349657 | 47349657 | Human | | name |
| 156059080 | CV1876104 | single nucleotide variant | NM_002900.3(RBP3):c.229G>C (p.Gly77Arg) | not provided [RCV003053277] | uncertain significance | 10 | 47348713 | 47348713 | Human | | name |
| 156304864 | CV1898517 | single nucleotide variant | NM_002900.3(RBP3):c.2220C>T (p.Pro740=) | not provided [RCV003088121] | likely benign | 10 | 47350704 | 47350704 | Human | | name |
| 10049424 | CV190405 | single nucleotide variant | NM_002900.3(RBP3):c.1200G>A (p.Ala400=) | not provided [RCV000173288] | uncertain significance | 10 | 47349684 | 47349684 | Human | | name |
| 156394776 | CV1958813 | single nucleotide variant | NM_002900.3(RBP3):c.2799G>C (p.Leu933=) | not provided [RCV002584260] | likely benign | 10 | 47351283 | 47351283 | Human | | name |
| 156417651 | CV1967091 | single nucleotide variant | NM_002900.3(RBP3):c.2814C>T (p.Pro938=) | not provided [RCV002590298] | likely benign | 10 | 47351298 | 47351298 | Human | | name |
| 156384739 | CV1971849 | single nucleotide variant | NM_002900.3(RBP3):c.1047C>A (p.Thr349=) | not provided [RCV002604217] | likely benign | 10 | 47349531 | 47349531 | Human | | name |
| 156419621 | CV1977716 | single nucleotide variant | NM_002900.3(RBP3):c.1203C>T (p.Pro401=) | not provided [RCV002612860] | likely benign | 10 | 47349687 | 47349687 | Human | | name |
| 156387616 | CV1982941 | single nucleotide variant | NM_002900.3(RBP3):c.2487C>T (p.Val829=) | not provided [RCV002634721] | likely benign | 10 | 47350971 | 47350971 | Human | | name |
| 156352890 | CV1985781 | single nucleotide variant | NM_002900.3(RBP3):c.1926C>T (p.Gly642=) | not provided [RCV002632109] | likely benign | 10 | 47350410 | 47350410 | Human | | name |
| 156386025 | CV1998136 | single nucleotide variant | NM_002900.3(RBP3):c.1110C>G (p.Thr370=) | not provided [RCV002653996] | likely benign | 10 | 47349594 | 47349594 | Human | | name |
| 156132885 | CV1998656 | single nucleotide variant | NM_002900.3(RBP3):c.1320C>T (p.Gly440=) | not provided [RCV002663285] | likely benign | 10 | 47349804 | 47349804 | Human | | name |
| 156274957 | CV2004884 | single nucleotide variant | NM_002900.3(RBP3):c.2727G>A (p.Leu909=) | not provided [RCV002646656] | likely benign | 10 | 47351211 | 47351211 | Human | | name |
| 156161417 | CV2009536 | single nucleotide variant | NM_002900.3(RBP3):c.132C>G (p.Asn44Lys) | not provided [RCV002710185] | uncertain significance | 10 | 47348616 | 47348616 | Human | | name |
| 156360394 | CV2016603 | single nucleotide variant | NM_002900.3(RBP3):c.232G>A (p.Val78Met) | not provided [RCV002720821] | uncertain significance | 10 | 47348716 | 47348716 | Human | | name |
| 156113961 | CV2018675 | single nucleotide variant | NM_002900.3(RBP3):c.1608G>A (p.Gly536=) | not provided [RCV002695778] | likely benign | 10 | 47350092 | 47350092 | Human | | name |
| 156218443 | CV2028779 | single nucleotide variant | NM_002900.3(RBP3):c.282C>A (p.Ser94Arg) | not provided [RCV002712044] | uncertain significance | 10 | 47348766 | 47348766 | Human | | name |
| 155958981 | CV2029744 | single nucleotide variant | NM_002900.3(RBP3):c.1515C>T (p.His505=) | not provided [RCV002731084] | likely benign | 10 | 47349999 | 47349999 | Human | | name |
| 155910966 | CV2033032 | single nucleotide variant | NM_002900.3(RBP3):c.2340C>T (p.Ile780=) | Retinal dystrophy [RCV003889157]|not provided [RCV002750133] | likely benign|uncertain significance | 10 | 47350824 | 47350824 | Human | 2 | name |
| 155950090 | CV2046638 | single nucleotide variant | NM_002900.3(RBP3):c.1734G>A (p.Thr578=) | not provided [RCV002775725] | likely benign | 10 | 47350218 | 47350218 | Human | | name |
| 156111491 | CV2046997 | single nucleotide variant | NM_002900.3(RBP3):c.2118C>G (p.Gly706=) | not provided [RCV002761713] | likely benign | 10 | 47350602 | 47350602 | Human | | name |
| 156374180 | CV2052890 | single nucleotide variant | NM_002900.3(RBP3):c.1746G>A (p.Leu582=) | not provided [RCV002814550] | likely benign | 10 | 47350230 | 47350230 | Human | | name |
| 156191382 | CV2086766 | single nucleotide variant | NM_002900.3(RBP3):c.1887G>A (p.Val629=) | not provided [RCV002852150] | likely benign | 10 | 47350371 | 47350371 | Human | | name |
| 155900824 | CV2087615 | single nucleotide variant | NM_002900.3(RBP3):c.2274G>A (p.Lys758=) | not provided [RCV002857842] | likely benign | 10 | 47350758 | 47350758 | Human | | name |
| 156148805 | CV2090994 | single nucleotide variant | NM_002900.3(RBP3):c.2928C>T (p.Thr976=) | not provided [RCV002890582] | likely benign | 10 | 47351412 | 47351412 | Human | | name |
| 155994426 | CV2095664 | single nucleotide variant | NM_002900.3(RBP3):c.2991C>T (p.His997=) | not provided [RCV002908314] | likely benign | 10 | 47351475 | 47351475 | Human | | name |
| 156030110 | CV2125435 | single nucleotide variant | NM_002900.3(RBP3):c.2523C>T (p.Tyr841=) | not provided [RCV002949190] | likely benign | 10 | 47351007 | 47351007 | Human | | name |
| 156047846 | CV2144343 | single nucleotide variant | NM_002900.3(RBP3):c.1077C>T (p.Phe359=) | not provided [RCV002999771] | likely benign | 10 | 47349561 | 47349561 | Human | | name |
| 156089153 | CV2155528 | single nucleotide variant | NM_002900.3(RBP3):c.1914C>A (p.Ala638=) | not provided [RCV003020619] | likely benign | 10 | 47350398 | 47350398 | Human | | name |
| 156010037 | CV2160012 | single nucleotide variant | NM_002900.3(RBP3):c.2598G>C (p.Thr866=) | not provided [RCV003017692] | likely benign | 10 | 47351082 | 47351082 | Human | | name |
| 155995856 | CV2168666 | single nucleotide variant | NM_002900.3(RBP3):c.1611G>A (p.Val537=) | not provided [RCV003017049] | likely benign | 10 | 47350095 | 47350095 | Human | | name |
| 156370284 | CV2174403 | single nucleotide variant | NM_002900.3(RBP3):c.1392G>A (p.Val464=) | not provided [RCV003049644] | likely benign | 10 | 47349876 | 47349876 | Human | | name |
| 156370300 | CV2174405 | single nucleotide variant | NM_002900.3(RBP3):c.1089C>A (p.Val363=) | not provided [RCV003049645] | likely benign | 10 | 47349573 | 47349573 | Human | | name |
| 156338035 | CV2178351 | single nucleotide variant | NM_002900.3(RBP3):c.2268A>C (p.Thr756=) | not provided [RCV003047586] | likely benign | 10 | 47350752 | 47350752 | Human | | name |
| 156259639 | CV2181639 | single nucleotide variant | NM_002900.3(RBP3):c.1863G>A (p.Glu621=) | not provided [RCV003044073] | likely benign | 10 | 47350347 | 47350347 | Human | | name |
| 156082824 | CV2184283 | single nucleotide variant | NM_002900.3(RBP3):c.2361C>G (p.Gly787=) | not provided [RCV003054088] | likely benign | 10 | 47350845 | 47350845 | Human | | name |
| 156196829 | CV2190757 | single nucleotide variant | NM_002900.3(RBP3):c.1476C>G (p.Leu492=) | not provided [RCV003058022] | likely benign | 10 | 47349960 | 47349960 | Human | | name |
| 11050319 | CV226529 | single nucleotide variant | NM_002900.3(RBP3):c.249C>A (p.Asn83Lys) | Retinal dystrophy [RCV000210317]|not provided [RCV001038993] | likely pathogenic|uncertain significance | 10 | 47348733 | 47348733 | Human | 2 | name |
| 329368673 | CV2453251 | single nucleotide variant | NM_002900.3(RBP3):c.132C>A (p.Asn44Lys) | Inborn genetic diseases [RCV003208690] | uncertain significance | 10 | 47348616 | 47348616 | Human | 1 | name |
| 11640975 | CV270607 | single nucleotide variant | NM_002900.3(RBP3):c.1581G>A (p.Pro527=) | Retinitis pigmentosa [RCV001106784]|not provided [RCV000347622] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 47350065 | 47350065 | Human | 2 | name |
| 11636411 | CV271280 | single nucleotide variant | NM_002900.3(RBP3):c.1641G>A (p.Thr547=) | Retinal dystrophy [RCV003888684]|Retinitis pigmentosa [RCV001106781]|not provided [RCV000267203] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 47350125 | 47350125 | Human | 4 | name |
| 401938262 | CV2813129 | single nucleotide variant | NM_002900.3(RBP3):c.2493C>A (p.Gly831=) | not provided [RCV003417351] | likely benign | 10 | 47350977 | 47350977 | Human | | name |
| 405240696 | CV2892932 | single nucleotide variant | NM_002900.3(RBP3):c.1434G>A (p.Leu478=) | not provided [RCV003557271] | likely benign | 10 | 47349918 | 47349918 | Human | | name |
| 402465385 | CV2916527 | single nucleotide variant | NM_002900.3(RBP3):c.1836G>T (p.Val612=) | not provided [RCV003569138] | likely benign | 10 | 47350320 | 47350320 | Human | | name |
| 405214937 | CV2925183 | single nucleotide variant | NM_002900.3(RBP3):c.2373G>T (p.Thr791=) | not provided [RCV003567606] | likely benign | 10 | 47350857 | 47350857 | Human | | name |
| 405074359 | CV2940516 | single nucleotide variant | NM_002900.3(RBP3):c.2295G>C (p.Val765=) | not provided [RCV003659532] | likely benign | 10 | 47350779 | 47350779 | Human | | name |
| 405182386 | CV2952587 | single nucleotide variant | NM_002900.3(RBP3):c.1440C>T (p.His480=) | not provided [RCV003676353] | likely benign | 10 | 47349924 | 47349924 | Human | | name |
| 405122410 | CV2954109 | single nucleotide variant | NM_002900.3(RBP3):c.2196C>T (p.Ala732=) | not provided [RCV003667561] | likely benign | 10 | 47350680 | 47350680 | Human | | name |
| 405231434 | CV2964549 | single nucleotide variant | NM_002900.3(RBP3):c.1051C>T (p.Leu351=) | not provided [RCV003682264] | likely benign | 10 | 47349535 | 47349535 | Human | | name |
| 405212778 | CV2984039 | single nucleotide variant | NM_002900.3(RBP3):c.1899C>T (p.His633=) | not provided [RCV003708859] | likely benign | 10 | 47350383 | 47350383 | Human | | name |
| 405231980 | CV2988412 | single nucleotide variant | NM_002900.3(RBP3):c.2028T>C (p.Ala676=) | not provided [RCV003711602] | likely benign | 10 | 47350512 | 47350512 | Human | | name |
| 405119936 | CV2993840 | single nucleotide variant | NM_002900.3(RBP3):c.2262G>A (p.Leu754=) | not provided [RCV003723717] | likely benign | 10 | 47350746 | 47350746 | Human | | name |
| 405207547 | CV2994507 | deletion | NM_002900.3(RBP3):c.705del (p.Arg236fs) | not provided [RCV003678887] | pathogenic | 10 | 47349188 | 47349188 | Human | | name |
| 405224713 | CV3041985 | deletion | NM_002900.3(RBP3):c.304del (p.Val102fs) | not provided [RCV003710494] | pathogenic | 10 | 47348788 | 47348788 | Human | | name |
| 11604578 | CV310344 | single nucleotide variant | NM_002900.3(RBP3):c.1044C>T (p.Pro348=) | Retinitis pigmentosa [RCV000310963]|not provided [RCV000914525] | benign|uncertain significance | 10 | 47349528 | 47349528 | Human | 2 | name |
| 11611632 | CV310345 | single nucleotide variant | NM_002900.3(RBP3):c.1083G>C (p.Thr361=) | Retinitis pigmentosa [RCV000397627]|not provided [RCV000913373] | likely benign|uncertain significance | 10 | 47349567 | 47349567 | Human | 2 | name |
| 11606417 | CV310352 | single nucleotide variant | NM_002900.3(RBP3):c.1776C>G (p.Thr592=) | Retinitis pigmentosa [RCV000331213]|not provided [RCV000916692] | likely benign|uncertain significance | 10 | 47350260 | 47350260 | Human | 2 | name |
| 11609564 | CV310363 | single nucleotide variant | NM_002900.3(RBP3):c.2619C>T (p.Ala873=) | Retinitis pigmentosa [RCV000369770]|not provided [RCV000971293]|not specified [RCV001700043] | benign|likely benign|uncertain significance | 10 | 47351103 | 47351103 | Human | 2 | name |
| 404980997 | CV3121024 | single nucleotide variant | NM_002900.3(RBP3):c.2553G>A (p.Ala851=) | not provided [RCV003826016] | likely benign | 10 | 47351037 | 47351037 | Human | | name |
| 404981856 | CV3121159 | single nucleotide variant | NM_002900.3(RBP3):c.2295G>A (p.Val765=) | not provided [RCV003826151] | likely benign | 10 | 47350779 | 47350779 | Human | | name |
| 405206151 | CV3126652 | single nucleotide variant | NM_002900.3(RBP3):c.1122C>T (p.Ala374=) | not provided [RCV003822586] | likely benign | 10 | 47349606 | 47349606 | Human | | name |
| 404988238 | CV3135536 | single nucleotide variant | NM_002900.3(RBP3):c.2541C>T (p.Thr847=) | not provided [RCV003826831] | likely benign | 10 | 47351025 | 47351025 | Human | | name |
| 404988947 | CV3135630 | single nucleotide variant | NM_002900.3(RBP3):c.2514G>A (p.Lys838=) | not provided [RCV003826925] | likely benign | 10 | 47350998 | 47350998 | Human | | name |
| 405158384 | CV3152525 | single nucleotide variant | NM_002900.3(RBP3):c.1740G>A (p.Pro580=) | not provided [RCV003840452] | likely benign | 10 | 47350224 | 47350224 | Human | | name |
| 11605576 | CV315441 | single nucleotide variant | NM_002900.3(RBP3):c.1323C>T (p.Tyr441=) | Retinitis pigmentosa [RCV000320988]|not provided [RCV002520590] | likely benign|uncertain significance | 10 | 47349807 | 47349807 | Human | 2 | name |
| 11605254 | CV315449 | single nucleotide variant | NM_002900.3(RBP3):c.1674G>A (p.Ser558=) | Retinitis pigmentosa [RCV000317370]|not provided [RCV001493698] | likely benign|uncertain significance | 10 | 47350158 | 47350158 | Human | 2 | name |
| 11609651 | CV315451 | single nucleotide variant | NM_002900.3(RBP3):c.1809C>T (p.Gly603=) | Retinitis pigmentosa [RCV000370821]|not provided [RCV000956821] | benign|uncertain significance | 10 | 47350293 | 47350293 | Human | 2 | name |
| 11611430 | CV315468 | single nucleotide variant | NM_002900.3(RBP3):c.2095T>C (p.Leu699=) | Retinitis pigmentosa [RCV000394623]|not provided [RCV001522642] | benign|likely benign | 10 | 47350579 | 47350579 | Human | 2 | name |
| 11657314 | CV315474 | single nucleotide variant | NM_002900.3(RBP3):c.2121G>A (p.Glu707=) | RBP3-related disorder [RCV003950008]|Retinitis pigmentosa [RCV000340217]|not provided [RCV002059551] | likely benign|uncertain significance | 10 | 47350605 | 47350605 | Human | 3 | name , alternate_id |
| 11601325 | CV315475 | single nucleotide variant | NM_002900.3(RBP3):c.2481C>T (p.Pro827=) | Retinitis pigmentosa [RCV000281267]|not provided [RCV001424779] | likely benign|uncertain significance | 10 | 47350965 | 47350965 | Human | 2 | name |
| 405142683 | CV3155364 | single nucleotide variant | NM_002900.3(RBP3):c.1959G>A (p.Arg653=) | not provided [RCV003855602] | likely benign | 10 | 47350443 | 47350443 | Human | | name |
| 405263002 | CV3188471 | single nucleotide variant | NM_002900.3(RBP3):c.1620C>T (p.Leu540=) | Retinal dystrophy [RCV003889535] | uncertain significance | 10 | 47350104 | 47350104 | Human | 2 | name |
| 405263036 | CV3188478 | single nucleotide variant | NM_002900.3(RBP3):c.1245G>A (p.Leu415=) | Retinal dystrophy [RCV003889542] | uncertain significance | 10 | 47349729 | 47349729 | Human | 2 | name |
| 405263039 | CV3188480 | single nucleotide variant | NM_002900.3(RBP3):c.1191T>C (p.Ser397=) | Retinal dystrophy [RCV003889544] | uncertain significance | 10 | 47349675 | 47349675 | Human | 2 | name |
| 405263047 | CV3188486 | single nucleotide variant | NM_002900.3(RBP3):c.240C>A (p.Ser80Arg) | Retinal dystrophy [RCV003889550] | uncertain significance | 10 | 47348724 | 47348724 | Human | 2 | name |
| 405274253 | CV3211606 | single nucleotide variant | NM_002900.3(RBP3):c.2382G>A (p.Pro794=) | RBP3-related disorder [RCV003951433] | likely benign | 10 | 47350866 | 47350866 | Human | | name , trait , alternate_id |
| 11600502 | CV321427 | single nucleotide variant | NM_002900.3(RBP3):c.1806C>T (p.His602=) | Retinitis pigmentosa [RCV000273913]|not provided [RCV001429406]|not specified [RCV001729517] | benign|likely benign|uncertain significance | 10 | 47350290 | 47350290 | Human | 2 | name |
| 11610880 | CV321467 | single nucleotide variant | NM_002900.3(RBP3):c.2556C>T (p.Ala852=) | RBP3-related disorder [RCV003930265]|Retinitis pigmentosa [RCV000387230]|not provided [RCV001517656] | benign|likely benign|uncertain significance | 10 | 47351040 | 47351040 | Human | 3 | name , alternate_id |
| 11602379 | CV322181 | single nucleotide variant | NM_002900.3(RBP3):c.1179A>G (p.Thr393=) | Retinitis pigmentosa [RCV000290120]|not provided [RCV001405063] | likely benign|uncertain significance | 10 | 47349663 | 47349663 | Human | 2 | name |
| 11607320 | CV322208 | single nucleotide variant | NM_002900.3(RBP3):c.2247C>T (p.Asp749=) | Retinitis pigmentosa [RCV000341432]|not provided [RCV000959873] | benign|likely benign | 10 | 47350731 | 47350731 | Human | 2 | name |
| 11600897 | CV322251 | single nucleotide variant | NM_002900.3(RBP3):c.2616G>A (p.Thr872=) | Retinitis pigmentosa [RCV000277626]|not provided [RCV001450861] | likely benign|uncertain significance | 10 | 47351100 | 47351100 | Human | 2 | name |
| 11599902 | CV322268 | single nucleotide variant | NM_002900.3(RBP3):c.2871G>T (p.Leu957=) | Retinitis pigmentosa [RCV000269261]|not provided [RCV001422700] | likely benign|uncertain significance | 10 | 47351355 | 47351355 | Human | 2 | name |
| 407467887 | CV3465104 | single nucleotide variant | NM_002900.3(RBP3):c.289G>C (p.Glu97Gln) | Inborn genetic diseases [RCV004660919] | uncertain significance | 10 | 47348773 | 47348773 | Human | 1 | name |
| 597882911 | CV3741224 | single nucleotide variant | NM_002900.3(RBP3):c.2859C>T (p.Ala953=) | not provided [RCV005070131] | likely benign | 10 | 47351343 | 47351343 | Human | | name |
| 597848371 | CV3746468 | single nucleotide variant | NM_002900.3(RBP3):c.1839C>G (p.Pro613=) | not provided [RCV005060287] | likely benign | 10 | 47350323 | 47350323 | Human | | name |
| 597925289 | CV3748583 | single nucleotide variant | NM_002900.3(RBP3):c.2895G>T (p.Leu965=) | not provided [RCV005075231] | likely benign | 10 | 47351379 | 47351379 | Human | | name |
| 597946064 | CV3755490 | single nucleotide variant | NM_002900.3(RBP3):c.1104G>A (p.Leu368=) | not provided [RCV005078499] | likely benign | 10 | 47349588 | 47349588 | Human | | name |
| 597963565 | CV3791519 | single nucleotide variant | NM_002900.3(RBP3):c.2520C>T (p.Leu840=) | not provided [RCV005139273] | likely benign | 10 | 47351004 | 47351004 | Human | | name |
| 597891286 | CV3805099 | single nucleotide variant | NM_002900.3(RBP3):c.1266G>T (p.Arg422=) | not provided [RCV005151361] | likely benign | 10 | 47349750 | 47349750 | Human | | name |
| 597918873 | CV3811594 | single nucleotide variant | NM_002900.3(RBP3):c.1302G>A (p.Val434=) | not provided [RCV005155425] | likely benign | 10 | 47349786 | 47349786 | Human | | name |
| 597950788 | CV3815218 | single nucleotide variant | NM_002900.3(RBP3):c.2823G>A (p.Leu941=) | not provided [RCV005161168] | likely benign | 10 | 47351307 | 47351307 | Human | | name |
| 597960679 | CV3815541 | single nucleotide variant | NM_002900.3(RBP3):c.1890G>A (p.Leu630=) | not provided [RCV005163474] | likely benign | 10 | 47350374 | 47350374 | Human | | name |
| 597967211 | CV3820328 | single nucleotide variant | NM_002900.3(RBP3):c.1357C>T (p.Leu453=) | not provided [RCV005165365] | likely benign | 10 | 47349841 | 47349841 | Human | | name |
| 597966419 | CV3823724 | single nucleotide variant | NM_002900.3(RBP3):c.1650G>A (p.Glu550=) | not provided [RCV005165144] | likely benign | 10 | 47350134 | 47350134 | Human | | name |
| 597845731 | CV3827868 | single nucleotide variant | NM_002900.3(RBP3):c.2217G>A (p.Leu739=) | not provided [RCV005172942] | likely benign | 10 | 47350701 | 47350701 | Human | | name |
| 597908458 | CV3829915 | single nucleotide variant | NM_002900.3(RBP3):c.1156C>T (p.Leu386=) | not provided [RCV005182484] | likely benign | 10 | 47349640 | 47349640 | Human | | name |
| 597908698 | CV3829951 | single nucleotide variant | NM_002900.3(RBP3):c.2425C>T (p.Leu809=) | not provided [RCV005182520] | likely benign | 10 | 47350909 | 47350909 | Human | | name |
| 15168810 | CV701357 | single nucleotide variant | NM_002900.3(RBP3):c.2625C>A (p.Gly875=) | not provided [RCV000949336] | likely benign | 10 | 47351109 | 47351109 | Human | | name |
| 15105579 | CV712377 | single nucleotide variant | NM_002900.3(RBP3):c.1296G>A (p.Val432=) | Retinitis pigmentosa [RCV002489347]|not provided [RCV000959912] | benign|likely benign | 10 | 47349780 | 47349780 | Human | 2 | name |
| 15123498 | CV712378 | single nucleotide variant | NM_002900.3(RBP3):c.2856T>C (p.Tyr952=) | Retinitis pigmentosa [RCV001105544]|not provided [RCV000963252] | likely benign|uncertain significance | 10 | 47351340 | 47351340 | Human | 2 | name |
| 15166176 | CV712379 | single nucleotide variant | NM_002900.3(RBP3):c.2874G>A (p.Gly958=) | not provided [RCV000971116] | likely benign | 10 | 47351358 | 47351358 | Human | | name |
| 15182594 | CV723955 | single nucleotide variant | NM_002900.3(RBP3):c.1401G>A (p.Pro467=) | not provided [RCV000886027] | likely benign | 10 | 47349885 | 47349885 | Human | | name |
| 15148009 | CV737493 | single nucleotide variant | NM_002900.3(RBP3):c.1092C>T (p.Ser364=) | not provided [RCV000900634] | likely benign | 10 | 47349576 | 47349576 | Human | | name |
| 15140805 | CV737494 | single nucleotide variant | NM_002900.3(RBP3):c.1254C>T (p.Asp418=) | not provided [RCV000899381] | likely benign | 10 | 47349738 | 47349738 | Human | | name |
| 15183596 | CV737495 | single nucleotide variant | NM_002900.3(RBP3):c.1332C>T (p.Phe444=) | not provided [RCV000908093] | likely benign | 10 | 47349816 | 47349816 | Human | | name |
| 15145241 | CV737496 | single nucleotide variant | NM_002900.3(RBP3):c.1503C>T (p.Ala501=) | Retinitis pigmentosa [RCV001107414]|Retinitis pigmentosa [RCV002502649]|not provided [RCV000900131] | benign|likely benign | 10 | 47349987 | 47349987 | Human | 2 | name |
| 15188108 | CV737497 | single nucleotide variant | NM_002900.3(RBP3):c.1635C>A (p.Thr545=) | not provided [RCV000909275] | benign | 10 | 47350119 | 47350119 | Human | | name |
| 15198804 | CV752108 | single nucleotide variant | NM_002900.3(RBP3):c.1464T>C (p.Ala488=) | not provided [RCV000912362] | likely benign | 10 | 47349948 | 47349948 | Human | | name |
| 15193792 | CV767751 | single nucleotide variant | NM_002900.3(RBP3):c.2118C>A (p.Gly706=) | not provided [RCV000933459] | likely benign | 10 | 47350602 | 47350602 | Human | | name |
| 15178194 | CV767752 | single nucleotide variant | NM_002900.3(RBP3):c.2331G>A (p.Ala777=) | not provided [RCV000929338] | likely benign | 10 | 47350815 | 47350815 | Human | | name |
| 15174828 | CV767753 | single nucleotide variant | NM_002900.3(RBP3):c.2490C>T (p.Ala830=) | Retinal dystrophy [RCV003890081]|not provided [RCV000928527] | likely benign | 10 | 47350974 | 47350974 | Human | 2 | name |
| 15133310 | CV783596 | single nucleotide variant | NM_002900.3(RBP3):c.1770G>A (p.Ala590=) | Retinal dystrophy [RCV003890144]|not provided [RCV000981533] | likely benign | 10 | 47350254 | 47350254 | Human | 2 | name |
| 26920321 | CV836874 | single nucleotide variant | NM_002900.3(RBP3):c.176A>G (p.His59Arg) | not provided [RCV001047353] | uncertain significance | 10 | 47348660 | 47348660 | Human | | name |
| 28904763 | CV865889 | single nucleotide variant | NM_002900.3(RBP3):c.1008C>T (p.Val336=) | Retinitis pigmentosa [RCV001105732] | uncertain significance | 10 | 47349492 | 47349492 | Human | 2 | name |
| 28906648 | CV865893 | single nucleotide variant | NM_002900.3(RBP3):c.1647G>A (p.Ala549=) | Retinitis pigmentosa [RCV001106780]|not provided [RCV005056892] | likely benign|uncertain significance | 10 | 47350131 | 47350131 | Human | 2 | name |
| 28904584 | CV865894 | single nucleotide variant | NM_002900.3(RBP3):c.1776C>T (p.Thr592=) | Retinitis pigmentosa [RCV001105650]|not provided [RCV002067783] | likely benign|uncertain significance | 10 | 47350260 | 47350260 | Human | 2 | name |
| 28910059 | CV865895 | single nucleotide variant | NM_002900.3(RBP3):c.2184C>T (p.Tyr728=) | Retinitis pigmentosa [RCV001108853]|not provided [RCV001457795] | likely benign|uncertain significance | 10 | 47350668 | 47350668 | Human | 2 | name |
| 28904366 | CV865898 | single nucleotide variant | NM_002900.3(RBP3):c.2898C>T (p.Ser966=) | Retinal dystrophy [RCV003890248]|Retinitis pigmentosa [RCV001105543]|not provided [RCV001523422] | benign|likely benign | 10 | 47351382 | 47351382 | Human | 4 | name |
| 8633637 | CV88852 | single nucleotide variant | NM_002900.2(RBP3):c.1080C>T (p.Ser360=) | Malignant melanoma [RCV000068947] | not provided | 10 | 47349564 | 47349564 | Human | | name |
| 38489510 | CV935051 | single nucleotide variant | NM_002900.3(RBP3):c.1782G>A (p.Pro594=) | RBP3-related disorder [RCV003898206]|not provided [RCV001210262] | likely benign|uncertain significance | 10 | 47350266 | 47350266 | Human | 1 | name , alternate_id |
| 38491173 | CV956058 | single nucleotide variant | NM_002900.3(RBP3):c.160C>T (p.Gln54Ter) | Retinitis pigmentosa 66 [RCV001810002]|not provided [RCV001239290] | pathogenic | 10 | 47348644 | 47348644 | Human | 1 | name |
| 38498768 | CV956059 | single nucleotide variant | NM_002900.3(RBP3):c.188G>A (p.Ser63Asn) | not provided [RCV001244023] | uncertain significance | 10 | 47348672 | 47348672 | Human | | name |
| 38498853 | CV956071 | single nucleotide variant | NM_002900.3(RBP3):c.2118C>T (p.Gly706=) | not provided [RCV001244083] | likely benign|uncertain significance | 10 | 47350602 | 47350602 | Human | | name |
| 38490955 | CV956073 | single nucleotide variant | NM_002900.3(RBP3):c.2871G>A (p.Leu957=) | not provided [RCV001239152] | likely benign|uncertain significance | 10 | 47351355 | 47351355 | Human | | name |
| 126754071 | CV993831 | single nucleotide variant | NM_002900.3(RBP3):c.101T>G (p.Val34Gly) | not provided [RCV001298039] | uncertain significance | 10 | 47348585 | 47348585 | Human | | name |
| 126754172 | CV993832 | single nucleotide variant | NM_002900.3(RBP3):c.189C>G (p.Ser63Arg) | not provided [RCV001298063] | uncertain significance | 10 | 47348673 | 47348673 | Human | | name |
| 126768474 | CV1009011 | single nucleotide variant | NM_002900.3(RBP3):c.514T>C (p.Cys172Arg) | not provided [RCV001321382] | uncertain significance | 10 | 47348998 | 47348998 | Human | | name |
| 126768231 | CV1009012 | single nucleotide variant | NM_002900.3(RBP3):c.623C>T (p.Thr208Met) | not provided [RCV001321248] | uncertain significance | 10 | 47349107 | 47349107 | Human | | name |
| 126769509 | CV1009013 | single nucleotide variant | NM_002900.3(RBP3):c.769G>C (p.Glu257Gln) | not provided [RCV001322002] | uncertain significance | 10 | 47349253 | 47349253 | Human | | name |
| 126774574 | CV1029558 | single nucleotide variant | NM_002900.3(RBP3):c.469G>A (p.Gly157Arg) | not provided [RCV001347384] | uncertain significance | 10 | 47348953 | 47348953 | Human | | name |
| 126742659 | CV1029560 | single nucleotide variant | NM_002900.3(RBP3):c.670G>A (p.Asp224Asn) | Inborn genetic diseases [RCV005262427]|not provided [RCV001351041] | uncertain significance | 10 | 47349154 | 47349154 | Human | 1 | name |
| 126733769 | CV1029561 | single nucleotide variant | NM_002900.3(RBP3):c.835A>G (p.Thr279Ala) | not provided [RCV001349834] | uncertain significance | 10 | 47349319 | 47349319 | Human | | name |
| 126769793 | CV1029562 | single nucleotide variant | NM_002900.3(RBP3):c.884C>T (p.Thr295Met) | Inborn genetic diseases [RCV003346498]|not provided [RCV001344119] | uncertain significance | 10 | 47349368 | 47349368 | Human | 1 | name |
| 126774329 | CV1029579 | single nucleotide variant | NM_002900.3(RBP3):c.3624G>T (p.Gly1208=) | not provided [RCV001347100] | likely benign|uncertain significance | 10 | 47357337 | 47357337 | Human | | name |
| 126915662 | CV1046550 | single nucleotide variant | NM_002900.3(RBP3):c.299C>G (p.Pro100Arg) | not provided [RCV001360120] | uncertain significance | 10 | 47348783 | 47348783 | Human | | name |
| 126915770 | CV1046551 | single nucleotide variant | NM_002900.3(RBP3):c.325T>C (p.Ser109Pro) | not provided [RCV001371110] | uncertain significance | 10 | 47348809 | 47348809 | Human | | name |
| 126919398 | CV1046552 | single nucleotide variant | NM_002900.3(RBP3):c.622A>G (p.Thr208Ala) | Inborn genetic diseases [RCV004037559]|not provided [RCV001373206] | uncertain significance | 10 | 47349106 | 47349106 | Human | 1 | name |
| 126913765 | CV1046553 | single nucleotide variant | NM_002900.3(RBP3):c.982G>A (p.Gly328Arg) | not provided [RCV001359298] | uncertain significance | 10 | 47349466 | 47349466 | Human | | name |
| 127265061 | CV1061898 | deletion | NM_002900.3(RBP3):c.1279del (p.Asp427fs) | not provided [RCV001388347] | pathogenic | 10 | 47349762 | 47349762 | Human | | name |
| 127230172 | CV1077086 | single nucleotide variant | NM_002900.3(RBP3):c.3114T>G (p.Leu1038=) | not provided [RCV001412383] | likely benign | 10 | 47353384 | 47353384 | Human | | name |
| 127280497 | CV1077087 | single nucleotide variant | NM_002900.3(RBP3):c.3171C>G (p.Thr1057=) | not provided [RCV001409806] | likely benign | 10 | 47353441 | 47353441 | Human | | name |
| 127254722 | CV1077088 | single nucleotide variant | NM_002900.3(RBP3):c.3651C>A (p.Val1217=) | not provided [RCV001418613] | likely benign | 10 | 47357364 | 47357364 | Human | | name |
| 127255412 | CV1098739 | single nucleotide variant | NM_002900.3(RBP3):c.3081G>A (p.Glu1027=) | not provided [RCV001437459] | likely benign | 10 | 47353351 | 47353351 | Human | | name |
| 127275788 | CV1098740 | single nucleotide variant | NM_002900.3(RBP3):c.3531A>C (p.Pro1177=) | not provided [RCV001432519] | likely benign | 10 | 47357244 | 47357244 | Human | | name |
| 127297357 | CV1120306 | single nucleotide variant | NM_002900.3(RBP3):c.3099C>T (p.Phe1033=) | not provided [RCV001460231] | likely benign | 10 | 47353369 | 47353369 | Human | | name |
| 127301200 | CV1120307 | single nucleotide variant | NM_002900.3(RBP3):c.3222G>A (p.Thr1074=) | not provided [RCV001454075] | likely benign | 10 | 47353492 | 47353492 | Human | | name |
| 127303307 | CV1120308 | single nucleotide variant | NM_002900.3(RBP3):c.3237C>T (p.Ile1079=) | not provided [RCV001454701] | likely benign | 10 | 47353507 | 47353507 | Human | | name |
| 127303973 | CV1141153 | single nucleotide variant | NM_002900.3(RBP3):c.3108C>T (p.Asn1036=) | not provided [RCV001499523] | likely benign | 10 | 47353378 | 47353378 | Human | | name |
| 127313016 | CV1141154 | single nucleotide variant | NM_002900.3(RBP3):c.3192G>A (p.Val1064=) | not provided [RCV001481851] | likely benign | 10 | 47353462 | 47353462 | Human | | name |
| 127334861 | CV1141155 | single nucleotide variant | NM_002900.3(RBP3):c.3375C>T (p.His1125=) | not provided [RCV001491148] | likely benign | 10 | 47355505 | 47355505 | Human | | name |
| 127325723 | CV1141156 | single nucleotide variant | NM_002900.3(RBP3):c.3411G>A (p.Lys1137=) | not provided [RCV001485871] | likely benign | 10 | 47357124 | 47357124 | Human | | name |
| 127285992 | CV1141157 | single nucleotide variant | NM_002900.3(RBP3):c.3441G>A (p.Thr1147=) | not provided [RCV001493959] | likely benign | 10 | 47357154 | 47357154 | Human | | name |
| 127335550 | CV1141158 | single nucleotide variant | NM_002900.3(RBP3):c.3477G>A (p.Lys1159=) | not provided [RCV001491598] | likely benign | 10 | 47357190 | 47357190 | Human | | name |
| 127295187 | CV1141159 | single nucleotide variant | NM_002900.3(RBP3):c.3483G>C (p.Leu1161=) | not provided [RCV001497204] | likely benign | 10 | 47357196 | 47357196 | Human | | name |
| 127333762 | CV1141160 | single nucleotide variant | NM_002900.3(RBP3):c.3525C>T (p.Cys1175=) | RBP3-related disorder [RCV003938879]|not provided [RCV001490367] | likely benign | 10 | 47357238 | 47357238 | Human | 1 | name , alternate_id |
| 127337126 | CV1141161 | single nucleotide variant | NM_002900.3(RBP3):c.3669C>T (p.Leu1223=) | not provided [RCV001492625] | likely benign | 10 | 47357382 | 47357382 | Human | | name |
| 150338666 | CV1174304 | single nucleotide variant | NM_002900.3(RBP3):c.509G>A (p.Arg170Gln) | Retinal dystrophy [RCV004815564]|Retinitis pigmentosa 66 [RCV001542765]|Retinitis pigmentosa [RCV005395067]|not provided [RCV002032542] | likely pathogenic|uncertain significance | 10 | 47348993 | 47348993 | Human | 5 | name |
| 150486194 | CV1274341 | single nucleotide variant | NM_002900.3(RBP3):c.3444C>T (p.Ala1148=) | not provided [RCV001727937]|not specified [RCV001698890] | benign|likely benign | 10 | 47357157 | 47357157 | Human | | name |
| 151791655 | CV1341323 | single nucleotide variant | NM_002900.3(RBP3):c.728C>T (p.Ala243Val) | not provided [RCV001866303] | uncertain significance | 10 | 47349212 | 47349212 | Human | | name |
| 151778954 | CV1352126 | single nucleotide variant | NM_002900.3(RBP3):c.3582G>A (p.Thr1194=) | not provided [RCV002009558] | likely benign|uncertain significance | 10 | 47357295 | 47357295 | Human | | name |
| 151873338 | CV1359567 | single nucleotide variant | NM_002900.3(RBP3):c.341T>A (p.Leu114His) | not provided [RCV002019226] | uncertain significance | 10 | 47348825 | 47348825 | Human | | name |
| 151826700 | CV1359732 | single nucleotide variant | NM_002900.3(RBP3):c.511C>A (p.His171Asn) | not provided [RCV002050319] | uncertain significance | 10 | 47348995 | 47348995 | Human | | name |
| 151861938 | CV1365000 | single nucleotide variant | NM_002900.3(RBP3):c.760G>C (p.Val254Leu) | not provided [RCV002017859] | uncertain significance | 10 | 47349244 | 47349244 | Human | | name |
| 151812701 | CV1367588 | single nucleotide variant | NM_002900.3(RBP3):c.733A>G (p.Ile245Val) | not provided [RCV001878429] | uncertain significance | 10 | 47349217 | 47349217 | Human | | name |
| 151717388 | CV1368389 | single nucleotide variant | NM_002900.3(RBP3):c.627G>T (p.Glu209Asp) | not provided [RCV001965429] | uncertain significance | 10 | 47349111 | 47349111 | Human | | name |
| 151782112 | CV1369784 | single nucleotide variant | NM_002900.3(RBP3):c.508C>T (p.Arg170Trp) | Retinal dystrophy [RCV003888909]|not provided [RCV001930538] | uncertain significance | 10 | 47348992 | 47348992 | Human | 2 | name |
| 151855152 | CV1372807 | single nucleotide variant | NM_002900.3(RBP3):c.341T>C (p.Leu114Pro) | not provided [RCV001996444] | uncertain significance | 10 | 47348825 | 47348825 | Human | | name |
| 151844450 | CV1381424 | single nucleotide variant | NM_002900.3(RBP3):c.928G>A (p.Glu310Lys) | not provided [RCV001881759] | uncertain significance | 10 | 47349412 | 47349412 | Human | | name |
| 151867378 | CV1381759 | single nucleotide variant | NM_002900.3(RBP3):c.965T>G (p.Leu322Arg) | not provided [RCV001939327] | uncertain significance | 10 | 47349449 | 47349449 | Human | | name |
| 151855292 | CV1387438 | single nucleotide variant | NM_002900.3(RBP3):c.956T>C (p.Ile319Thr) | not provided [RCV001958513] | uncertain significance | 10 | 47349440 | 47349440 | Human | | name |
| 151711901 | CV1396672 | single nucleotide variant | NM_002900.3(RBP3):c.527A>G (p.Gln176Arg) | not provided [RCV001889560] | uncertain significance | 10 | 47349011 | 47349011 | Human | | name |
| 151747027 | CV1399186 | single nucleotide variant | NM_002900.3(RBP3):c.3453G>A (p.Ala1151=) | not provided [RCV001912548] | likely benign|uncertain significance | 10 | 47357166 | 47357166 | Human | | name |
| 151746305 | CV1402004 | single nucleotide variant | NM_002900.3(RBP3):c.919A>G (p.Thr307Ala) | not provided [RCV002042764] | uncertain significance | 10 | 47349403 | 47349403 | Human | | name |
| 151744273 | CV1408699 | single nucleotide variant | NM_002900.3(RBP3):c.748C>T (p.Arg250Cys) | not provided [RCV002042554] | uncertain significance | 10 | 47349232 | 47349232 | Human | | name |
| 151852476 | CV1409307 | single nucleotide variant | NM_002900.3(RBP3):c.462C>A (p.His154Gln) | Inborn genetic diseases [RCV003299070]|not provided [RCV001937544] | uncertain significance | 10 | 47348946 | 47348946 | Human | 1 | name |
| 151751117 | CV1426696 | single nucleotide variant | NM_002900.3(RBP3):c.920C>T (p.Thr307Ile) | not provided [RCV002006874] | uncertain significance | 10 | 47349404 | 47349404 | Human | | name |
| 151874057 | CV1430533 | single nucleotide variant | NM_002900.3(RBP3):c.301C>G (p.Gln101Glu) | not provided [RCV002036038] | uncertain significance | 10 | 47348785 | 47348785 | Human | | name |
| 151759513 | CV1443809 | single nucleotide variant | NM_002900.3(RBP3):c.901G>T (p.Val301Leu) | not provided [RCV001873073] | uncertain significance | 10 | 47349385 | 47349385 | Human | | name |
| 151708812 | CV1448850 | single nucleotide variant | NM_002900.3(RBP3):c.923C>T (p.Pro308Leu) | not provided [RCV001963864] | uncertain significance | 10 | 47349407 | 47349407 | Human | | name |
| 151869920 | CV1454053 | deletion | NM_002900.3(RBP3):c.2086del (p.Asp696fs) | not provided [RCV001906335] | pathogenic | 10 | 47350567 | 47350567 | Human | | name |
| 151740316 | CV1455313 | single nucleotide variant | NM_002900.3(RBP3):c.859G>C (p.Gly287Arg) | Inborn genetic diseases [RCV002579621]|not provided [RCV002005752] | uncertain significance | 10 | 47349343 | 47349343 | Human | 1 | name |
| 151875707 | CV1459936 | single nucleotide variant | NM_002900.3(RBP3):c.730C>A (p.His244Asn) | not provided [RCV002036229] | uncertain significance | 10 | 47349214 | 47349214 | Human | | name |
| 151725670 | CV1462164 | single nucleotide variant | NM_002900.3(RBP3):c.3237C>A (p.Ile1079=) | not provided [RCV001966553] | likely benign|uncertain significance | 10 | 47353507 | 47353507 | Human | | name |
| 151873563 | CV1470213 | single nucleotide variant | NM_002900.3(RBP3):c.436A>G (p.Met146Val) | not provided [RCV001885579] | uncertain significance | 10 | 47348920 | 47348920 | Human | | name |
| 151791809 | CV1470937 | single nucleotide variant | NM_002900.3(RBP3):c.710G>A (p.Gly237Asp) | not provided [RCV001931490] | uncertain significance | 10 | 47349194 | 47349194 | Human | | name |
| 151842103 | CV1473508 | single nucleotide variant | NM_002900.3(RBP3):c.401G>A (p.Arg134Gln) | not provided [RCV002031944] | uncertain significance | 10 | 47348885 | 47348885 | Human | | name |
| 151854428 | CV1473599 | single nucleotide variant | NM_002900.3(RBP3):c.836C>T (p.Thr279Met) | not provided [RCV001904508] | uncertain significance | 10 | 47349320 | 47349320 | Human | | name |
| 151770695 | CV1481790 | single nucleotide variant | NM_002900.3(RBP3):c.697A>G (p.Ser233Gly) | not provided [RCV002008812] | uncertain significance | 10 | 47349181 | 47349181 | Human | | name |
| 151741109 | CV1492517 | single nucleotide variant | NM_002900.3(RBP3):c.490G>C (p.Ala164Pro) | not provided [RCV002042238] | uncertain significance | 10 | 47348974 | 47348974 | Human | | name |
| 151761896 | CV1496512 | single nucleotide variant | NM_002900.3(RBP3):c.930G>T (p.Glu310Asp) | not provided [RCV001895423] | uncertain significance | 10 | 47349414 | 47349414 | Human | | name |
| 151720479 | CV1498346 | single nucleotide variant | NM_002900.3(RBP3):c.955A>G (p.Ile319Val) | not provided [RCV001965896] | uncertain significance | 10 | 47349439 | 47349439 | Human | | name |
| 151741634 | CV1504284 | single nucleotide variant | NM_002900.3(RBP3):c.631T>G (p.Trp211Gly) | not provided [RCV002022376] | uncertain significance | 10 | 47349115 | 47349115 | Human | | name |
| 151811638 | CV1506763 | single nucleotide variant | NM_002900.3(RBP3):c.952G>A (p.Ala318Thr) | not provided [RCV001918667] | uncertain significance | 10 | 47349436 | 47349436 | Human | | name |
| 151865080 | CV1511601 | single nucleotide variant | NM_002900.3(RBP3):c.722A>T (p.Asp241Val) | Inborn genetic diseases [RCV005264126]|Retinitis pigmentosa [RCV002497897]|not provided [RCV001997630] | uncertain significance | 10 | 47349206 | 47349206 | Human | 3 | name |
| 151749105 | CV1511960 | single nucleotide variant | NM_002900.3(RBP3):c.607C>A (p.Pro203Thr) | not provided [RCV001986091] | uncertain significance | 10 | 47349091 | 47349091 | Human | | name |
| 152076186 | CV1528518 | single nucleotide variant | NM_002900.3(RBP3):c.3591T>C (p.Ser1197=) | not provided [RCV002112136] | likely benign | 10 | 47357304 | 47357304 | Human | | name |
| 152152530 | CV1529578 | single nucleotide variant | NM_002900.3(RBP3):c.3528G>A (p.Gln1176=) | not provided [RCV002202192] | likely benign | 10 | 47357241 | 47357241 | Human | | name |
| 152176290 | CV1541391 | single nucleotide variant | NM_002900.3(RBP3):c.3450C>T (p.Thr1150=) | not provided [RCV002164435] | likely benign | 10 | 47357163 | 47357163 | Human | | name |
| 152118743 | CV1558223 | single nucleotide variant | NM_002900.3(RBP3):c.3468T>C (p.Tyr1156=) | not provided [RCV002135432] | likely benign | 10 | 47357181 | 47357181 | Human | | name |
| 152040663 | CV1561814 | single nucleotide variant | NM_002900.3(RBP3):c.3396C>T (p.Arg1132=) | not provided [RCV002188211] | likely benign | 10 | 47357109 | 47357109 | Human | | name |
| 152065286 | CV1576280 | single nucleotide variant | NM_002900.3(RBP3):c.3651C>G (p.Val1217=) | not provided [RCV002209243] | likely benign | 10 | 47357364 | 47357364 | Human | | name |
| 152037634 | CV1576388 | single nucleotide variant | NM_002900.3(RBP3):c.3222G>T (p.Thr1074=) | not provided [RCV002107257] | likely benign | 10 | 47353492 | 47353492 | Human | | name |
| 152044095 | CV1584165 | single nucleotide variant | NM_002900.3(RBP3):c.3283T>C (p.Leu1095=) | not provided [RCV002071390] | likely benign | 10 | 47355413 | 47355413 | Human | | name |
| 152123054 | CV1594128 | single nucleotide variant | NM_002900.3(RBP3):c.3213C>A (p.Ile1071=) | not provided [RCV002175834] | likely benign | 10 | 47353483 | 47353483 | Human | | name |
| 152064781 | CV1652431 | single nucleotide variant | NM_002900.3(RBP3):c.3390T>A (p.Gly1130=) | not provided [RCV002090741] | likely benign | 10 | 47357103 | 47357103 | Human | | name |
| 155746652 | CV1771659 | single nucleotide variant | NM_002900.3(RBP3):c.319A>G (p.Ser107Gly) | not provided [RCV002303439] | uncertain significance | 10 | 47348803 | 47348803 | Human | | name |
| 155794835 | CV1861058 | deletion | NM_002900.3(RBP3):c.1472del (p.Leu491fs) | Retinitis pigmentosa 66 [RCV002468771] | likely pathogenic | 10 | 47349956 | 47349956 | Human | 1 | name |
| 10049428 | CV190409 | single nucleotide variant | NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) | Retinal dystrophy [RCV004816254]|Retinitis pigmentosa 66 [RCV000206931]|not provided [RCV000173292] | uncertain significance | 10 | 47349457 | 47349457 | Human | 3 | name |
| 156219688 | CV1924842 | single nucleotide variant | NM_002900.3(RBP3):c.712G>A (p.Val238Met) | not provided [RCV002644354] | uncertain significance | 10 | 47349196 | 47349196 | Human | | name |
| 156419417 | CV1932824 | single nucleotide variant | NM_002900.3(RBP3):c.967C>A (p.Arg323Ser) | not provided [RCV002612649] | uncertain significance | 10 | 47349451 | 47349451 | Human | | name |
| 155949588 | CV1935978 | deletion | NM_002900.3(RBP3):c.1227del (p.Val411fs) | not provided [RCV002511630] | pathogenic|likely pathogenic | 10 | 47349711 | 47349711 | Human | | name |
| 156443939 | CV1941216 | single nucleotide variant | NM_002900.3(RBP3):c.3456G>A (p.Glu1152=) | not provided [RCV003114851] | likely benign | 10 | 47357169 | 47357169 | Human | | name |
| 156216854 | CV1963363 | single nucleotide variant | NM_002900.3(RBP3):c.3654T>C (p.Pro1218=) | not provided [RCV002575364] | likely benign | 10 | 47357367 | 47357367 | Human | | name |
| 156417239 | CV1970276 | single nucleotide variant | NM_002900.3(RBP3):c.968G>A (p.Arg323His) | Retinitis pigmentosa [RCV005419474]|not provided [RCV002590085] | uncertain significance | 10 | 47349452 | 47349452 | Human | 2 | name |
| 156411878 | CV1973790 | single nucleotide variant | NM_002900.3(RBP3):c.3117G>A (p.Glu1039=) | not provided [RCV002608376] | likely benign | 10 | 47353387 | 47353387 | Human | | name |
| 156419689 | CV1974093 | single nucleotide variant | NM_002900.3(RBP3):c.421C>T (p.Gln141Ter) | Retinal dystrophy [RCV004817057]|not provided [RCV002612928] | pathogenic | 10 | 47348905 | 47348905 | Human | 2 | name |
| 156204093 | CV1974757 | single nucleotide variant | NM_002900.3(RBP3):c.434G>C (p.Ser145Thr) | not provided [RCV002625833] | uncertain significance | 10 | 47348918 | 47348918 | Human | | name |
| 156154901 | CV1991509 | single nucleotide variant | NM_002900.3(RBP3):c.740A>G (p.Lys247Arg) | not provided [RCV002642198] | uncertain significance | 10 | 47349224 | 47349224 | Human | | name |
| 156226590 | CV1991569 | single nucleotide variant | NM_002900.3(RBP3):c.3714G>A (p.Lys1238=) | not provided [RCV002626640] | likely benign | 10 | 47357427 | 47357427 | Human | | name |
| 156301944 | CV1998414 | single nucleotide variant | NM_002900.3(RBP3):c.817G>A (p.Glu273Lys) | Inborn genetic diseases [RCV004066785]|not provided [RCV002671200] | uncertain significance | 10 | 47349301 | 47349301 | Human | 1 | name |
| 156111692 | CV1998524 | single nucleotide variant | NM_002900.3(RBP3):c.898G>A (p.Gly300Arg) | not provided [RCV002639965] | uncertain significance | 10 | 47349382 | 47349382 | Human | | name |
| 156332477 | CV2000679 | single nucleotide variant | NM_002900.3(RBP3):c.985G>T (p.Val329Leu) | not provided [RCV002649897] | uncertain significance | 10 | 47349469 | 47349469 | Human | | name |
| 156141876 | CV2002788 | single nucleotide variant | NM_002900.3(RBP3):c.3261C>A (p.Gly1087=) | not provided [RCV002663597] | likely benign | 10 | 47355391 | 47355391 | Human | | name |
| 156272739 | CV2004231 | single nucleotide variant | NM_002900.3(RBP3):c.470G>A (p.Gly157Glu) | not provided [RCV002646586] | uncertain significance | 10 | 47348954 | 47348954 | Human | | name |
| 156369236 | CV2007579 | single nucleotide variant | NM_002900.3(RBP3):c.640C>A (p.Pro214Thr) | not provided [RCV002676779] | uncertain significance | 10 | 47349124 | 47349124 | Human | | name |
| 156320165 | CV2014418 | single nucleotide variant | NM_002900.3(RBP3):c.3039A>T (p.Gly1013=) | not provided [RCV002672134] | likely benign | 10 | 47351523 | 47351523 | Human | | name |
| 156367802 | CV2021048 | single nucleotide variant | NM_002900.3(RBP3):c.3396C>A (p.Arg1132=) | not provided [RCV002721300] | likely benign | 10 | 47357109 | 47357109 | Human | | name |
| 10768821 | CV204536 | single nucleotide variant | NM_002900.3(RBP3):c.365G>A (p.Arg122His) | Retinitis pigmentosa 66 [RCV000207013] | uncertain significance | 10 | 47348849 | 47348849 | Human | 1 | name |
| 10768768 | CV204537 | single nucleotide variant | NM_002900.3(RBP3):c.463G>A (p.Val155Met) | Retinitis pigmentosa 66 [RCV000206939] | uncertain significance | 10 | 47348947 | 47348947 | Human | 1 | name |
| 10768780 | CV204538 | single nucleotide variant | NM_002900.3(RBP3):c.487T>C (p.Ser163Pro) | Retinitis pigmentosa 66 [RCV000206958]|Retinitis pigmentosa [RCV001106853]|not provided [RCV000968659] | benign|uncertain significance | 10 | 47348971 | 47348971 | Human | 3 | name |
| 10768816 | CV204539 | single nucleotide variant | NM_002900.3(RBP3):c.586G>A (p.Val196Met) | Retinal dystrophy [RCV003888639]|Retinitis pigmentosa 66 [RCV000207007] | uncertain significance | 10 | 47349070 | 47349070 | Human | 3 | name |
| 10768763 | CV204540 | single nucleotide variant | NM_002900.3(RBP3):c.800G>A (p.Arg267Gln) | Optic atrophy [RCV004816318]|Retinitis pigmentosa 66 [RCV000206934]|not provided [RCV001243043] | uncertain significance | 10 | 47349284 | 47349284 | Human | 3 | name |
| 10768800 | CV204541 | single nucleotide variant | NM_002900.3(RBP3):c.844G>A (p.Val282Met) | Retinitis pigmentosa 66 [RCV000206985]|not provided [RCV001060350] | uncertain significance | 10 | 47349328 | 47349328 | Human | 1 | name |
| 10768732 | CV204542 | single nucleotide variant | NM_002900.3(RBP3):c.962C>T (p.Thr321Ile) | Retinitis pigmentosa 66 [RCV000206892]|Retinitis pigmentosa [RCV001105735]|not provided [RCV001201499] | uncertain significance | 10 | 47349446 | 47349446 | Human | 3 | name |
| 156106456 | CV2076018 | single nucleotide variant | NM_002900.3(RBP3):c.3123C>T (p.Asn1041=) | not provided [RCV002870727] | likely benign | 10 | 47353393 | 47353393 | Human | | name |
| 156226032 | CV2081105 | single nucleotide variant | NM_002900.3(RBP3):c.3481C>T (p.Leu1161=) | not provided [RCV002853391] | likely benign | 10 | 47357194 | 47357194 | Human | | name |
| 155906220 | CV2084211 | single nucleotide variant | NM_002900.3(RBP3):c.3729G>C (p.Leu1243=) | not provided [RCV002858170] | likely benign | 10 | 47357442 | 47357442 | Human | | name |
| 156309024 | CV2085849 | single nucleotide variant | NM_002900.3(RBP3):c.3309C>A (p.Gly1103=) | not provided [RCV002898605] | likely benign | 10 | 47355439 | 47355439 | Human | | name |
| 156203909 | CV2110180 | single nucleotide variant | NM_002900.3(RBP3):c.542C>T (p.Pro181Leu) | not provided [RCV002957482] | uncertain significance | 10 | 47349026 | 47349026 | Human | | name |
| 156286491 | CV2114904 | single nucleotide variant | NM_002900.3(RBP3):c.973G>C (p.Ala325Pro) | not provided [RCV002921971] | uncertain significance | 10 | 47349457 | 47349457 | Human | | name |
| 156326764 | CV2116064 | single nucleotide variant | NM_002900.3(RBP3):c.772C>T (p.Arg258Trp) | not provided [RCV002938127] | uncertain significance | 10 | 47349256 | 47349256 | Human | | name |
| 156366533 | CV2116600 | single nucleotide variant | NM_002900.3(RBP3):c.3576C>T (p.Ile1192=) | not provided [RCV002941992] | likely benign | 10 | 47357289 | 47357289 | Human | | name |
| 155901637 | CV2126972 | single nucleotide variant | NM_002900.3(RBP3):c.810G>C (p.Arg270Ser) | Inborn genetic diseases [RCV003348960]|not provided [RCV002967458] | uncertain significance | 10 | 47349294 | 47349294 | Human | 1 | name |
| 156250400 | CV2130035 | single nucleotide variant | NM_002900.3(RBP3):c.596T>C (p.Ile199Thr) | Retinal dystrophy [RCV003889193]|not provided [RCV002959189] | uncertain significance | 10 | 47349080 | 47349080 | Human | 2 | name |
| 156050552 | CV2140818 | single nucleotide variant | NM_002900.3(RBP3):c.467G>T (p.Trp156Leu) | Inborn genetic diseases [RCV003170849]|not provided [RCV002999859] | uncertain significance | 10 | 47348951 | 47348951 | Human | 1 | name |
| 156236542 | CV2155762 | single nucleotide variant | NM_002900.3(RBP3):c.955A>T (p.Ile319Phe) | not provided [RCV003007943] | uncertain significance | 10 | 47349439 | 47349439 | Human | | name |
| 156342012 | CV2174977 | single nucleotide variant | NM_002900.3(RBP3):c.500T>C (p.Leu167Pro) | not provided [RCV003047789] | uncertain significance | 10 | 47348984 | 47348984 | Human | | name |
| 156086578 | CV2289971 | single nucleotide variant | NM_002900.3(RBP3):c.385A>T (p.Asn129Tyr) | Inborn genetic diseases [RCV002869575] | uncertain significance | 10 | 47348869 | 47348869 | Human | 1 | name |
| 156121304 | CV2354244 | single nucleotide variant | NM_002900.3(RBP3):c.709G>T (p.Gly237Cys) | Inborn genetic diseases [RCV002981249] | uncertain significance | 10 | 47349193 | 47349193 | Human | 1 | name |
| 156010691 | CV2362155 | single nucleotide variant | NM_002900.3(RBP3):c.892G>C (p.Gly298Arg) | Inborn genetic diseases [RCV002997790] | uncertain significance | 10 | 47349376 | 47349376 | Human | 1 | name |
| 243054003 | CV2416472 | single nucleotide variant | NM_002900.3(RBP3):c.680T>C (p.Val227Ala) | not provided [RCV003149533] | uncertain significance | 10 | 47349164 | 47349164 | Human | | name |
| 401763774 | CV2689587 | single nucleotide variant | NM_002900.3(RBP3):c.754G>A (p.Ala252Thr) | Inborn genetic diseases [RCV003281635] | uncertain significance | 10 | 47349238 | 47349238 | Human | 1 | name |
| 401779833 | CV2714975 | single nucleotide variant | NM_002900.3(RBP3):c.357G>T (p.Arg119Ser) | Inborn genetic diseases [RCV003287705] | uncertain significance | 10 | 47348841 | 47348841 | Human | 1 | name |
| 405218056 | CV2972326 | single nucleotide variant | NM_002900.3(RBP3):c.3426G>A (p.Leu1142=) | not provided [RCV003680216] | likely benign | 10 | 47357139 | 47357139 | Human | | name |
| 405120965 | CV3027137 | single nucleotide variant | NM_002900.3(RBP3):c.3531A>G (p.Pro1177=) | not provided [RCV003700689] | likely benign | 10 | 47357244 | 47357244 | Human | | name |
| 11608356 | CV310341 | single nucleotide variant | NM_002900.3(RBP3):c.787G>T (p.Ala263Ser) | Retinal dystrophy [RCV003888713]|Retinitis pigmentosa [RCV000353912]|not provided [RCV001230263] | uncertain significance | 10 | 47349271 | 47349271 | Human | 4 | name |
| 11608713 | CV315478 | single nucleotide variant | NM_002900.3(RBP3):c.3156C>T (p.Asp1052=) | Retinitis pigmentosa [RCV000358605]|not provided [RCV001454452] | likely benign|uncertain significance | 10 | 47353426 | 47353426 | Human | 2 | name |
| 11604107 | CV315479 | single nucleotide variant | NM_002900.3(RBP3):c.3381G>A (p.Gln1127=) | Retinitis pigmentosa [RCV000306182]|not provided [RCV000974253] | benign|uncertain significance | 10 | 47355511 | 47355511 | Human | 2 | name |
| 405187043 | CV3156456 | single nucleotide variant | NM_002900.3(RBP3):c.3186G>A (p.Leu1062=) | not provided [RCV003859334] | likely benign | 10 | 47353456 | 47353456 | Human | | name |
| 405198281 | CV3168278 | single nucleotide variant | NM_002900.3(RBP3):c.3573T>C (p.Thr1191=) | not provided [RCV003860410] | likely benign | 10 | 47357286 | 47357286 | Human | | name |
| 405262969 | CV3188458 | single nucleotide variant | NM_002900.3(RBP3):c.3675G>A (p.Arg1225=) | Retinal dystrophy [RCV003889522] | uncertain significance | 10 | 47357388 | 47357388 | Human | 2 | name |
| 405262973 | CV3188461 | single nucleotide variant | NM_002900.3(RBP3):c.3087C>T (p.Ile1029=) | Retinal dystrophy [RCV003889525] | likely pathogenic | 10 | 47353357 | 47353357 | Human | 2 | name |
| 405263040 | CV3188482 | single nucleotide variant | NM_002900.3(RBP3):c.490G>A (p.Ala164Thr) | Retinal dystrophy [RCV003889546] | uncertain significance | 10 | 47348974 | 47348974 | Human | 2 | name |
| 405263041 | CV3188483 | single nucleotide variant | NM_002900.3(RBP3):c.359G>T (p.Gly120Val) | Retinal dystrophy [RCV003889547] | uncertain significance | 10 | 47348843 | 47348843 | Human | 2 | name |
| 405263193 | CV3188484 | single nucleotide variant | NM_002900.3(RBP3):c.307C>T (p.Pro103Ser) | Retinal dystrophy [RCV003889548] | uncertain significance | 10 | 47348791 | 47348791 | Human | 2 | name |
| 405681971 | CV3319245 | single nucleotide variant | NM_002900.3(RBP3):c.430C>G (p.Leu144Val) | Inborn genetic diseases [RCV004443513] | likely benign | 10 | 47348914 | 47348914 | Human | 1 | name |
| 596939674 | CV3407942 | single nucleotide variant | NM_002900.3(RBP3):c.759C>G (p.Ile253Met) | Retinal dystrophy [RCV004814402] | uncertain significance | 10 | 47349243 | 47349243 | Human | 2 | name |
| 596942129 | CV3408407 | single nucleotide variant | NM_002900.3(RBP3):c.633G>A (p.Trp211Ter) | Retinal dystrophy [RCV004816078] | pathogenic | 10 | 47349117 | 47349117 | Human | 2 | name |
| 408384835 | CV3503511 | single nucleotide variant | NM_002900.3(RBP3):c.716C>T (p.Ala239Val) | RBP3-related disorder [RCV004732092] | uncertain significance | 10 | 47349200 | 47349200 | Human | | name , trait , alternate_id |
| 597708832 | CV3586228 | single nucleotide variant | NM_002900.3(RBP3):c.568G>C (p.Gly190Arg) | Inborn genetic diseases [RCV004957672] | uncertain significance | 10 | 47349052 | 47349052 | Human | 1 | name |
| 597708824 | CV3586229 | single nucleotide variant | NM_002900.3(RBP3):c.605G>A (p.Arg202His) | Inborn genetic diseases [RCV004957673] | uncertain significance | 10 | 47349089 | 47349089 | Human | 1 | name |
| 597887097 | CV3741893 | single nucleotide variant | NM_002900.3(RBP3):c.3021C>T (p.Ala1007=) | not provided [RCV005070613] | likely benign | 10 | 47351505 | 47351505 | Human | | name |
| 597938852 | CV3788367 | single nucleotide variant | NM_002900.3(RBP3):c.3729G>T (p.Leu1243=) | not provided [RCV005133042] | likely benign | 10 | 47357442 | 47357442 | Human | | name |
| 597908742 | CV3806382 | single nucleotide variant | NM_002900.3(RBP3):c.3708G>A (p.Arg1236=) | not provided [RCV005153949] | likely benign | 10 | 47357421 | 47357421 | Human | | name |
| 597911933 | CV3834196 | single nucleotide variant | NM_002900.3(RBP3):c.3273C>T (p.Ser1091=) | not provided [RCV005182958] | likely benign | 10 | 47355403 | 47355403 | Human | | name |
| 598254927 | CV3898934 | single nucleotide variant | NM_002900.3(RBP3):c.928G>C (p.Glu310Gln) | Inborn genetic diseases [RCV005259806] | uncertain significance | 10 | 47349412 | 47349412 | Human | 1 | name |
| 598254941 | CV3898937 | single nucleotide variant | NM_002900.3(RBP3):c.782G>T (p.Gly261Val) | Inborn genetic diseases [RCV005259809] | uncertain significance | 10 | 47349266 | 47349266 | Human | 1 | name |
| 12906456 | CV415223 | single nucleotide variant | NM_002900.3(RBP3):c.727G>A (p.Ala243Thr) | Inborn genetic diseases [RCV004023249]|not provided [RCV000489244] | uncertain significance | 10 | 47349211 | 47349211 | Human | 1 | name |
| 13211800 | CV425875 | single nucleotide variant | NM_002900.3(RBP3):c.863C>A (p.Pro288His) | not provided [RCV000497931] | likely pathogenic|conflicting interpretations of pathogenicity | 10 | 47349347 | 47349347 | Human | | name |
| 13484229 | CV444604 | single nucleotide variant | NM_002900.3(RBP3):c.472A>T (p.Asn158Tyr) | Inborn genetic diseases [RCV002528263]|not provided [RCV000522277] | uncertain significance | 10 | 47348956 | 47348956 | Human | 1 | name |
| 13518348 | CV491373 | single nucleotide variant | NM_002900.3(RBP3):c.418G>A (p.Gly140Ser) | not provided [RCV000597297] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 47348902 | 47348902 | Human | | name |
| 13837298 | CV588587 | single nucleotide variant | NM_002900.3(RBP3):c.299C>T (p.Pro100Leu) | not provided [RCV000733678] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 47348783 | 47348783 | Human | | name |
| 15182843 | CV723956 | single nucleotide variant | NM_002900.3(RBP3):c.3546C>T (p.His1182=) | Retinitis pigmentosa [RCV001103602]|not provided [RCV000886089] | benign | 10 | 47357259 | 47357259 | Human | 2 | name |
| 15119330 | CV752106 | single nucleotide variant | NM_002900.3(RBP3):c.490G>T (p.Ala164Ser) | RBP3-related disorder [RCV003933074]|not provided [RCV000918127] | benign|likely benign | 10 | 47348974 | 47348974 | Human | 1 | name , alternate_id |
| 38464616 | CV801420 | single nucleotide variant | NM_002900.3(RBP3):c.467G>C (p.Trp156Ser) | Retinitis pigmentosa [RCV001199531] | pathogenic | 10 | 47348951 | 47348951 | Human | 2 | name |
| 26890471 | CV836875 | single nucleotide variant | NM_002900.3(RBP3):c.336A>C (p.Glu112Asp) | not provided [RCV001059360] | uncertain significance | 10 | 47348820 | 47348820 | Human | | name |
| 26915976 | CV836876 | single nucleotide variant | NM_002900.3(RBP3):c.416C>T (p.Pro139Leu) | Inborn genetic diseases [RCV002551453]|not provided [RCV001039667] | uncertain significance | 10 | 47348900 | 47348900 | Human | 1 | name |
| 26893443 | CV836877 | single nucleotide variant | NM_002900.3(RBP3):c.604C>T (p.Arg202Cys) | not provided [RCV001062718] | uncertain significance | 10 | 47349088 | 47349088 | Human | | name |
| 26916560 | CV836878 | single nucleotide variant | NM_002900.3(RBP3):c.632G>A (p.Trp211Ter) | Retinal dystrophy [RCV003890174]|not provided [RCV001040624] | pathogenic|uncertain significance | 10 | 47349116 | 47349116 | Human | 2 | name |
| 26902855 | CV836879 | single nucleotide variant | NM_002900.3(RBP3):c.802A>T (p.Lys268Ter) | not provided [RCV001069517] | pathogenic | 10 | 47349286 | 47349286 | Human | | name |
| 26896423 | CV857383 | deletion | NM_002900.3(RBP3):c.1408del (p.Asp470fs) | Retinitis pigmentosa 66 [RCV001078178] | likely pathogenic | 10 | 47349891 | 47349891 | Human | 1 | name |
| 28906793 | CV865885 | single nucleotide variant | NM_002900.3(RBP3):c.590A>G (p.Asp197Gly) | Retinitis pigmentosa [RCV001106851] | uncertain significance | 10 | 47349074 | 47349074 | Human | 2 | name |
| 28904779 | CV865886 | single nucleotide variant | NM_002900.3(RBP3):c.934G>A (p.Ala312Thr) | Retinitis pigmentosa [RCV001105736]|not provided [RCV001856422] | uncertain significance | 10 | 47349418 | 47349418 | Human | 2 | name |
| 28904771 | CV865887 | single nucleotide variant | NM_002900.3(RBP3):c.967C>T (p.Arg323Cys) | Inborn genetic diseases [RCV004960455]|Retinitis pigmentosa [RCV001105734]|not provided [RCV001856421] | uncertain significance | 10 | 47349451 | 47349451 | Human | 3 | name |
| 28904766 | CV865888 | single nucleotide variant | NM_002900.3(RBP3):c.971G>T (p.Ser324Ile) | Retinitis pigmentosa [RCV001105733] | uncertain significance | 10 | 47349455 | 47349455 | Human | 2 | name |
| 28904360 | CV865899 | single nucleotide variant | NM_002900.3(RBP3):c.3363A>G (p.Glu1121=) | Retinitis pigmentosa [RCV001105542]|not provided [RCV002556077] | likely benign|uncertain significance | 10 | 47355493 | 47355493 | Human | 2 | name |
| 38483507 | CV935043 | single nucleotide variant | NM_002900.3(RBP3):c.445G>T (p.Glu149Ter) | Retinal dystrophy [RCV003890354]|not provided [RCV001207673] | pathogenic | 10 | 47348929 | 47348929 | Human | 2 | name |
| 38468098 | CV935044 | single nucleotide variant | NM_002900.3(RBP3):c.749G>A (p.Arg250His) | Retinitis pigmentosa 66 [RCV001535739]|not provided [RCV001202141] | uncertain significance|not provided | 10 | 47349233 | 47349233 | Human | 1 | name |
| 38464682 | CV935045 | single nucleotide variant | NM_002900.3(RBP3):c.760G>T (p.Val254Leu) | not provided [RCV001212526] | uncertain significance | 10 | 47349244 | 47349244 | Human | | name |
| 38470944 | CV935046 | single nucleotide variant | NM_002900.3(RBP3):c.773G>A (p.Arg258Gln) | Inborn genetic diseases [RCV004033901]|not provided [RCV001213674] | uncertain significance | 10 | 47349257 | 47349257 | Human | 1 | name |
| 38478022 | CV935047 | single nucleotide variant | NM_002900.3(RBP3):c.938T>C (p.Leu313Pro) | not provided [RCV001205357] | uncertain significance | 10 | 47349422 | 47349422 | Human | | name |
| 38473760 | CV946902 | single nucleotide variant | NM_002900.3(RBP3):c.505C>G (p.Leu169Val) | not provided [RCV001231924] | uncertain significance | 10 | 47348989 | 47348989 | Human | | name |
| 38489094 | CV946903 | single nucleotide variant | NM_002900.3(RBP3):c.664G>A (p.Gly222Ser) | not provided [RCV001238272] | uncertain significance | 10 | 47349148 | 47349148 | Human | | name |
| 38467616 | CV946904 | single nucleotide variant | NM_002900.3(RBP3):c.779G>A (p.Gly260Glu) | not provided [RCV001230460] | uncertain significance | 10 | 47349263 | 47349263 | Human | | name |
| 38488548 | CV946905 | single nucleotide variant | NM_002900.3(RBP3):c.860G>A (p.Gly287Glu) | not provided [RCV001237979] | uncertain significance | 10 | 47349344 | 47349344 | Human | | name |
| 38495031 | CV946906 | single nucleotide variant | NM_002900.3(RBP3):c.865C>T (p.Leu289Phe) | Inborn genetic diseases [RCV004960583]|not provided [RCV001225460] | uncertain significance | 10 | 47349349 | 47349349 | Human | 1 | name |
| 38463949 | CV946907 | single nucleotide variant | NM_002900.3(RBP3):c.910T>C (p.Cys304Arg) | not provided [RCV001229917] | uncertain significance | 10 | 47349394 | 47349394 | Human | | name |
| 38495173 | CV956060 | single nucleotide variant | NM_002900.3(RBP3):c.625G>A (p.Glu209Lys) | Inborn genetic diseases [RCV002568544]|not provided [RCV001241775] | uncertain significance | 10 | 47349109 | 47349109 | Human | 1 | name |
| 38499722 | CV956061 | single nucleotide variant | NM_002900.3(RBP3):c.685G>T (p.Val229Phe) | not provided [RCV001245000] | uncertain significance | 10 | 47349169 | 47349169 | Human | | name |
| 38491548 | CV956062 | single nucleotide variant | NM_002900.3(RBP3):c.778G>C (p.Gly260Arg) | Inborn genetic diseases [RCV004034619]|not provided [RCV001239544] | uncertain significance | 10 | 47349262 | 47349262 | Human | 1 | name |
| 38497306 | CV956063 | single nucleotide variant | NM_002900.3(RBP3):c.866T>C (p.Leu289Pro) | not provided [RCV001243089] | uncertain significance | 10 | 47349350 | 47349350 | Human | | name |
| 126752676 | CV993833 | single nucleotide variant | NM_002900.3(RBP3):c.299C>A (p.Pro100Gln) | not provided [RCV001307267] | uncertain significance | 10 | 47348783 | 47348783 | Human | | name |
| 126727355 | CV993834 | single nucleotide variant | NM_002900.3(RBP3):c.332A>G (p.Glu111Gly) | not provided [RCV001303135] | uncertain significance | 10 | 47348816 | 47348816 | Human | | name |
| 126742003 | CV993835 | single nucleotide variant | NM_002900.3(RBP3):c.412G>A (p.Val138Ile) | not provided [RCV001295986] | uncertain significance | 10 | 47348896 | 47348896 | Human | | name |
| 126733869 | CV993837 | single nucleotide variant | NM_002900.3(RBP3):c.682G>A (p.Val228Met) | not provided [RCV001304345] | uncertain significance | 10 | 47349166 | 47349166 | Human | | name |
| 126742693 | CV993838 | single nucleotide variant | NM_002900.3(RBP3):c.815G>T (p.Gly272Val) | not provided [RCV001305589] | uncertain significance | 10 | 47349299 | 47349299 | Human | | name |
| 126743500 | CV993839 | single nucleotide variant | NM_002900.3(RBP3):c.823G>C (p.Asp275His) | not provided [RCV001305710] | uncertain significance | 10 | 47349307 | 47349307 | Human | | name |
| 126732680 | CV1009015 | single nucleotide variant | NM_002900.3(RBP3):c.1101T>A (p.Asp367Glu) | not provided [RCV001313262] | uncertain significance | 10 | 47349585 | 47349585 | Human | | name |
| 126758159 | CV1009016 | single nucleotide variant | NM_002900.3(RBP3):c.1186C>G (p.Pro396Ala) | not provided [RCV001317698] | uncertain significance | 10 | 47349670 | 47349670 | Human | | name |
| 126735519 | CV1009017 | single nucleotide variant | NM_002900.3(RBP3):c.1286T>C (p.Val429Ala) | not provided [RCV001313729] | uncertain significance | 10 | 47349770 | 47349770 | Human | | name |
| 126752256 | CV1009018 | single nucleotide variant | NM_002900.3(RBP3):c.1414G>A (p.Glu472Lys) | not provided [RCV001316277] | uncertain significance | 10 | 47349898 | 47349898 | Human | | name |
| 126731892 | CV1009019 | single nucleotide variant | NM_002900.3(RBP3):c.1532A>T (p.Asp511Val) | Inborn genetic diseases [RCV002543618]|Retinitis pigmentosa 66 [RCV001535721]|not provided [RCV001313119] | uncertain significance|not provided | 10 | 47350016 | 47350016 | Human | 2 | name |
| 126770950 | CV1009020 | single nucleotide variant | NM_002900.3(RBP3):c.1580C>T (p.Pro527Leu) | not provided [RCV001322872] | uncertain significance | 10 | 47350064 | 47350064 | Human | | name |
| 126766323 | CV1009021 | single nucleotide variant | NM_002900.3(RBP3):c.1708G>A (p.Ala570Thr) | not provided [RCV001320399] | uncertain significance | 10 | 47350192 | 47350192 | Human | | name |
| 126734419 | CV1009022 | single nucleotide variant | NM_002900.3(RBP3):c.1730G>A (p.Arg577His) | Inborn genetic diseases [RCV004960744]|not provided [RCV001313567] | uncertain significance | 10 | 47350214 | 47350214 | Human | 1 | name |
| 126764646 | CV1009023 | single nucleotide variant | NM_002900.3(RBP3):c.1764C>A (p.Ser588Arg) | Inborn genetic diseases [RCV003294280]|not provided [RCV001319728] | uncertain significance | 10 | 47350248 | 47350248 | Human | 1 | name |
| 126754457 | CV1009024 | single nucleotide variant | NM_002900.3(RBP3):c.2221G>C (p.Gly741Arg) | not provided [RCV001327513] | uncertain significance | 10 | 47350705 | 47350705 | Human | | name |
| 126752374 | CV1009025 | single nucleotide variant | NM_002900.3(RBP3):c.2278G>A (p.Val760Met) | not provided [RCV001316302] | uncertain significance | 10 | 47350762 | 47350762 | Human | | name |
| 126749466 | CV1009026 | single nucleotide variant | NM_002900.3(RBP3):c.2282G>C (p.Gly761Ala) | not provided [RCV001315724] | uncertain significance | 10 | 47350766 | 47350766 | Human | | name |
| 126742738 | CV1009027 | single nucleotide variant | NM_002900.3(RBP3):c.2324C>T (p.Thr775Met) | Retinal dystrophy [RCV003888016]|not provided [RCV001314703] | uncertain significance | 10 | 47350808 | 47350808 | Human | 2 | name |
| 126751355 | CV1009028 | single nucleotide variant | NM_002900.3(RBP3):c.2491G>A (p.Gly831Ser) | Retinal dystrophy [RCV004815382]|not provided [RCV001326904] | uncertain significance | 10 | 47350975 | 47350975 | Human | 2 | name |
| 126769853 | CV1009029 | single nucleotide variant | NM_002900.3(RBP3):c.2498G>A (p.Arg833His) | Inborn genetic diseases [RCV002546091]|Retinal dystrophy [RCV004815373]|not provided [RCV001322215] | uncertain significance | 10 | 47350982 | 47350982 | Human | 3 | name |
| 126749329 | CV1009030 | single nucleotide variant | NM_002900.3(RBP3):c.2576T>C (p.Met859Thr) | not provided [RCV001315699] | uncertain significance | 10 | 47351060 | 47351060 | Human | | name |
| 126737119 | CV1009031 | single nucleotide variant | NM_002900.3(RBP3):c.2620G>A (p.Gly874Arg) | not provided [RCV001324755] | uncertain significance | 10 | 47351104 | 47351104 | Human | | name |
| 126755156 | CV1009032 | single nucleotide variant | NM_002900.3(RBP3):c.2621G>A (p.Gly874Glu) | Inborn genetic diseases [RCV002546229]|not provided [RCV001327675] | uncertain significance | 10 | 47351105 | 47351105 | Human | 1 | name |
| 126744866 | CV1009033 | single nucleotide variant | NM_002900.3(RBP3):c.2624G>A (p.Gly875Asp) | not provided [RCV001314991] | uncertain significance | 10 | 47351108 | 47351108 | Human | | name |
| 126769532 | CV1009035 | single nucleotide variant | NM_002900.3(RBP3):c.2699G>T (p.Ser900Ile) | not provided [RCV001322014] | uncertain significance | 10 | 47351183 | 47351183 | Human | | name |
| 126754191 | CV1009036 | single nucleotide variant | NM_002900.3(RBP3):c.2882T>C (p.Met961Thr) | not provided [RCV001316650] | uncertain significance | 10 | 47351366 | 47351366 | Human | | name |
| 126767484 | CV1009037 | single nucleotide variant | NM_002900.3(RBP3):c.2971A>T (p.Met991Leu) | not provided [RCV001320869] | uncertain significance | 10 | 47351455 | 47351455 | Human | | name |
| 126725497 | CV1029563 | single nucleotide variant | NM_002900.3(RBP3):c.1076T>C (p.Phe359Ser) | Inborn genetic diseases [RCV004036544]|not provided [RCV001348173] | uncertain significance | 10 | 47349560 | 47349560 | Human | 1 | name |
| 126749897 | CV1029564 | single nucleotide variant | NM_002900.3(RBP3):c.1300G>C (p.Val434Leu) | not provided [RCV001352137] | uncertain significance | 10 | 47349784 | 47349784 | Human | | name |
| 126747076 | CV1029565 | single nucleotide variant | NM_002900.3(RBP3):c.1328G>A (p.Arg443His) | Retinal dystrophy [RCV004815392]|not provided [RCV001337419] | uncertain significance | 10 | 47349812 | 47349812 | Human | 2 | name |
| 126770495 | CV1029566 | single nucleotide variant | NM_002900.3(RBP3):c.1412C>T (p.Thr471Met) | not provided [RCV001344509] | uncertain significance | 10 | 47349896 | 47349896 | Human | | name |
| 126769730 | CV1029567 | single nucleotide variant | NM_002900.3(RBP3):c.1559A>T (p.His520Leu) | not provided [RCV001344081] | uncertain significance | 10 | 47350043 | 47350043 | Human | | name |
| 126764662 | CV1029568 | single nucleotide variant | NM_002900.3(RBP3):c.2107C>T (p.His703Tyr) | Inborn genetic diseases [RCV002547410]|not provided [RCV001341739] | uncertain significance | 10 | 47350591 | 47350591 | Human | 1 | name |
| 126774079 | CV1029569 | single nucleotide variant | NM_002900.3(RBP3):c.2119G>A (p.Glu707Lys) | not provided [RCV001346807] | uncertain significance | 10 | 47350603 | 47350603 | Human | | name |
| 126763455 | CV1029570 | single nucleotide variant | NM_002900.3(RBP3):c.2573C>A (p.Thr858Asn) | not provided [RCV001341280] | uncertain significance | 10 | 47351057 | 47351057 | Human | | name |
| 126761111 | CV1029571 | single nucleotide variant | NM_002900.3(RBP3):c.2590C>T (p.Arg864Trp) | Inborn genetic diseases [RCV004960817]|not provided [RCV001340594] | uncertain significance | 10 | 47351074 | 47351074 | Human | 1 | name |
| 126742131 | CV1029572 | single nucleotide variant | NM_002900.3(RBP3):c.2741C>T (p.Pro914Leu) | not provided [RCV001350971] | uncertain significance | 10 | 47351225 | 47351225 | Human | | name |
| 126739199 | CV1029573 | single nucleotide variant | NM_002900.3(RBP3):c.2909G>A (p.Ser970Asn) | not provided [RCV001350573] | uncertain significance | 10 | 47351393 | 47351393 | Human | | name |
| 126913167 | CV1037973 | single nucleotide variant | NM_002900.3(RBP3):c.2219C>T (p.Pro740Leu) | not provided [RCV001357119] | uncertain significance | 10 | 47350703 | 47350703 | Human | | name |
| 126921526 | CV1046554 | single nucleotide variant | NM_002900.3(RBP3):c.1031T>C (p.Val344Ala) | not provided [RCV001363596] | uncertain significance | 10 | 47349515 | 47349515 | Human | | name |
| 126911954 | CV1046555 | single nucleotide variant | NM_002900.3(RBP3):c.1036C>G (p.Arg346Gly) | not provided [RCV001369481] | uncertain significance | 10 | 47349520 | 47349520 | Human | | name |
| 126918953 | CV1046556 | single nucleotide variant | NM_002900.3(RBP3):c.1042C>T (p.Pro348Ser) | Inborn genetic diseases [RCV004952851]|Retinitis pigmentosa [RCV005394998]|not provided [RCV001372958] | uncertain significance | 10 | 47349526 | 47349526 | Human | 3 | name |
| 126908547 | CV1046557 | single nucleotide variant | NM_002900.3(RBP3):c.1064C>A (p.Ala355Asp) | not provided [RCV001367980] | uncertain significance | 10 | 47349548 | 47349548 | Human | | name |
| 126918995 | CV1046558 | single nucleotide variant | NM_002900.3(RBP3):c.1171G>A (p.Gly391Arg) | Inborn genetic diseases [RCV003298573]|not provided [RCV001362043] | likely benign|uncertain significance | 10 | 47349655 | 47349655 | Human | 1 | name |
| 126916254 | CV1046559 | single nucleotide variant | NM_002900.3(RBP3):c.2067C>A (p.Asp689Glu) | Inborn genetic diseases [RCV002550009]|not provided [RCV001360471] | uncertain significance | 10 | 47350551 | 47350551 | Human | 1 | name |
| 126918273 | CV1046560 | single nucleotide variant | NM_002900.3(RBP3):c.2210A>G (p.Glu737Gly) | not provided [RCV001372561] | uncertain significance | 10 | 47350694 | 47350694 | Human | | name |
| 126915295 | CV1046561 | single nucleotide variant | NM_002900.3(RBP3):c.2462C>T (p.Thr821Met) | not provided [RCV001359902] | uncertain significance | 10 | 47350946 | 47350946 | Human | | name |
| 127263391 | CV1061899 | single nucleotide variant | NM_002900.3(RBP3):c.2074G>T (p.Glu692Ter) | not provided [RCV001380956] | pathogenic | 10 | 47350558 | 47350558 | Human | | name |
| 127263987 | CV1061901 | single nucleotide variant | NM_002900.3(RBP3):c.2824C>T (p.Gln942Ter) | not provided [RCV001381104] | pathogenic | 10 | 47351308 | 47351308 | Human | | name |
| 127245263 | CV1061902 | deletion | NM_002900.3(RBP3):c.3320del (p.Leu1107fs) | not provided [RCV001384330] | pathogenic | 10 | 47355450 | 47355450 | Human | | name |
| 127281540 | CV1098735 | single nucleotide variant | NM_002900.3(RBP3):c.2446G>T (p.Ala816Ser) | Retinal dystrophy [RCV003888155]|not provided [RCV001447222] | likely benign | 10 | 47350930 | 47350930 | Human | 2 | name |
| 151821603 | CV1338597 | single nucleotide variant | NM_002900.3(RBP3):c.1138T>G (p.Ser380Ala) | Retinal dystrophy [RCV003888387]|not provided [RCV001900937] | uncertain significance | 10 | 47349622 | 47349622 | Human | 2 | name |
| 151759066 | CV1340629 | single nucleotide variant | NM_002900.3(RBP3):c.1405C>T (p.Gln469Ter) | not provided [RCV001913767] | pathogenic | 10 | 47349889 | 47349889 | Human | | name |
| 151867020 | CV1342394 | single nucleotide variant | NM_002900.3(RBP3):c.1257G>C (p.Glu419Asp) | not provided [RCV001997859] | uncertain significance | 10 | 47349741 | 47349741 | Human | | name |
| 151815855 | CV1344331 | single nucleotide variant | NM_002900.3(RBP3):c.1549A>G (p.Thr517Ala) | not provided [RCV001919073] | uncertain significance | 10 | 47350033 | 47350033 | Human | | name |
| 151849132 | CV1346257 | single nucleotide variant | NM_002900.3(RBP3):c.2140C>T (p.Pro714Ser) | not provided [RCV001978690] | uncertain significance | 10 | 47350624 | 47350624 | Human | | name |
| 151891286 | CV1346987 | single nucleotide variant | NM_002900.3(RBP3):c.2790A>G (p.Ile930Met) | not provided [RCV002039071] | uncertain significance | 10 | 47351274 | 47351274 | Human | | name |
| 151856764 | CV1347826 | single nucleotide variant | NM_002900.3(RBP3):c.1936C>A (p.Leu646Met) | not provided [RCV001979620] | uncertain significance | 10 | 47350420 | 47350420 | Human | | name |
| 151823901 | CV1350745 | single nucleotide variant | NM_002900.3(RBP3):c.1082C>T (p.Thr361Met) | not provided [RCV001919841] | uncertain significance | 10 | 47349566 | 47349566 | Human | | name |
| 151852547 | CV1357228 | single nucleotide variant | NM_002900.3(RBP3):c.2603T>C (p.Ile868Thr) | not provided [RCV001904289] | uncertain significance | 10 | 47351087 | 47351087 | Human | | name |
| 151772658 | CV1357305 | single nucleotide variant | NM_002900.3(RBP3):c.1025C>T (p.Thr342Met) | not provided [RCV001864227] | uncertain significance | 10 | 47349509 | 47349509 | Human | | name |
| 151782413 | CV1360549 | single nucleotide variant | NM_002900.3(RBP3):c.2828C>T (p.Thr943Met) | Inborn genetic diseases [RCV004953189]|not provided [RCV001865089] | uncertain significance | 10 | 47351312 | 47351312 | Human | 1 | name |
| 151842970 | CV1363219 | single nucleotide variant | NM_002900.3(RBP3):c.1639A>G (p.Thr547Ala) | Inborn genetic diseases [RCV004956197]|not provided [RCV002032041] | uncertain significance | 10 | 47350123 | 47350123 | Human | 1 | name |
| 151771075 | CV1366316 | single nucleotide variant | NM_002900.3(RBP3):c.1582G>A (p.Gly528Ser) | not provided [RCV001929524] | uncertain significance | 10 | 47350066 | 47350066 | Human | | name |
| 151771790 | CV1366441 | single nucleotide variant | NM_002900.3(RBP3):c.2980G>A (p.Gly994Arg) | Inborn genetic diseases [RCV002560532]|Retinal dystrophy [RCV003888922]|not provided [RCV001929590] | likely benign|uncertain significance | 10 | 47351464 | 47351464 | Human | 3 | name |
| 151879573 | CV1370322 | single nucleotide variant | NM_002900.3(RBP3):c.1979C>G (p.Thr660Ser) | not provided [RCV001961461] | uncertain significance | 10 | 47350463 | 47350463 | Human | | name |
| 151853965 | CV1370801 | single nucleotide variant | NM_002900.3(RBP3):c.1670A>T (p.Gln557Leu) | not provided [RCV001904458] | uncertain significance | 10 | 47350154 | 47350154 | Human | | name |
| 151854049 | CV1370818 | single nucleotide variant | NM_002900.3(RBP3):c.2152C>A (p.Pro718Thr) | not provided [RCV001904466] | uncertain significance | 10 | 47350636 | 47350636 | Human | | name |
| 151837604 | CV1371704 | single nucleotide variant | NM_002900.3(RBP3):c.2047G>A (p.Ala683Thr) | not provided [RCV001921154] | uncertain significance | 10 | 47350531 | 47350531 | Human | | name |
| 151876273 | CV1372680 | single nucleotide variant | NM_002900.3(RBP3):c.2764G>A (p.Glu922Lys) | not provided [RCV002019576] | uncertain significance | 10 | 47351248 | 47351248 | Human | | name |
| 151831639 | CV1373432 | single nucleotide variant | NM_002900.3(RBP3):c.2117G>A (p.Gly706Asp) | Inborn genetic diseases [RCV003382663]|not provided [RCV001901867] | uncertain significance | 10 | 47350601 | 47350601 | Human | 1 | name |
| 151746725 | CV1375014 | single nucleotide variant | NM_002900.3(RBP3):c.2690T>C (p.Met897Thr) | Inborn genetic diseases [RCV002556413]|not provided [RCV001947678] | uncertain significance | 10 | 47351174 | 47351174 | Human | 1 | name |
| 151709187 | CV1375777 | single nucleotide variant | NM_002900.3(RBP3):c.2909G>C (p.Ser970Thr) | Inborn genetic diseases [RCV002571272]|not provided [RCV001963939] | uncertain significance | 10 | 47351393 | 47351393 | Human | 1 | name |
| 151875428 | CV1376149 | single nucleotide variant | NM_002900.3(RBP3):c.2973G>C (p.Met991Ile) | not provided [RCV002019480] | uncertain significance | 10 | 47351457 | 47351457 | Human | | name |
| 151797953 | CV1376562 | single nucleotide variant | NM_002900.3(RBP3):c.2252T>C (p.Met751Thr) | not provided [RCV001932036] | uncertain significance | 10 | 47350736 | 47350736 | Human | | name |
| 151852767 | CV1379025 | single nucleotide variant | NM_002900.3(RBP3):c.1853T>C (p.Leu618Pro) | not provided [RCV001882963] | uncertain significance | 10 | 47350337 | 47350337 | Human | | name |
| 151839490 | CV1382907 | single nucleotide variant | NM_002900.3(RBP3):c.1118A>G (p.Asn373Ser) | not provided [RCV002031647] | uncertain significance | 10 | 47349602 | 47349602 | Human | | name |
| 151751669 | CV1385466 | single nucleotide variant | NM_002900.3(RBP3):c.2093G>A (p.Arg698His) | Inborn genetic diseases [RCV004656796]|not provided [RCV001969248] | uncertain significance | 10 | 47350577 | 47350577 | Human | 1 | name |
| 151819411 | CV1385854 | single nucleotide variant | NM_002900.3(RBP3):c.2780C>G (p.Ala927Gly) | not provided [RCV002013224] | uncertain significance | 10 | 47351264 | 47351264 | Human | | name |
| 151740364 | CV1386492 | single nucleotide variant | NM_002900.3(RBP3):c.2977T>C (p.Ser993Pro) | not provided [RCV001893210] | uncertain significance | 10 | 47351461 | 47351461 | Human | | name |
| 151818911 | CV1390644 | single nucleotide variant | NM_002900.3(RBP3):c.1831G>C (p.Val611Leu) | not provided [RCV001954562] | uncertain significance | 10 | 47350315 | 47350315 | Human | | name |
| 151754544 | CV1391359 | single nucleotide variant | NM_002900.3(RBP3):c.2270T>C (p.Val757Ala) | not provided [RCV001969538] | uncertain significance | 10 | 47350754 | 47350754 | Human | | name |
| 151779044 | CV1392488 | single nucleotide variant | NM_002900.3(RBP3):c.2140C>G (p.Pro714Ala) | not provided [RCV001897067] | uncertain significance | 10 | 47350624 | 47350624 | Human | | name |
| 151791149 | CV1393213 | single nucleotide variant | NM_002900.3(RBP3):c.1640C>T (p.Thr547Met) | not provided [RCV001931430] | uncertain significance | 10 | 47350124 | 47350124 | Human | | name |
| 151891765 | CV1394503 | single nucleotide variant | NM_002900.3(RBP3):c.1247C>T (p.Pro416Leu) | not provided [RCV002039233] | uncertain significance | 10 | 47349731 | 47349731 | Human | | name |
| 151826014 | CV1396111 | single nucleotide variant | NM_002900.3(RBP3):c.2884G>A (p.Ala962Thr) | Retinal dystrophy [RCV003888354]|not provided [RCV001934593] | uncertain significance | 10 | 47351368 | 47351368 | Human | 2 | name |
| 151733320 | CV1397851 | single nucleotide variant | NM_002900.3(RBP3):c.1294G>A (p.Val432Met) | not provided [RCV002005004] | uncertain significance | 10 | 47349778 | 47349778 | Human | | name |
| 151743917 | CV1398218 | single nucleotide variant | NM_002900.3(RBP3):c.2033A>G (p.Asp678Gly) | not provided [RCV002042517] | uncertain significance | 10 | 47350517 | 47350517 | Human | | name |
| 151858456 | CV1398302 | single nucleotide variant | NM_002900.3(RBP3):c.1646C>T (p.Ala549Val) | Inborn genetic diseases [RCV002642137]|not provided [RCV002017464] | uncertain significance | 10 | 47350130 | 47350130 | Human | 1 | name |
| 151711906 | CV1400086 | single nucleotide variant | NM_002900.3(RBP3):c.1163G>A (p.Arg388Gln) | Inborn genetic diseases [RCV002564334]|Retinal dystrophy [RCV003888938]|not provided [RCV002002151] | uncertain significance | 10 | 47349647 | 47349647 | Human | 3 | name |
| 151888608 | CV1402178 | single nucleotide variant | NM_002900.3(RBP3):c.1039G>T (p.Val347Leu) | not provided [RCV001942621] | uncertain significance | 10 | 47349523 | 47349523 | Human | | name |
| 151771152 | CV1404369 | single nucleotide variant | NM_002900.3(RBP3):c.2689A>G (p.Met897Val) | not provided [RCV002045255] | uncertain significance | 10 | 47351173 | 47351173 | Human | | name |
| 151884047 | CV1404937 | single nucleotide variant | NM_002900.3(RBP3):c.1042C>G (p.Pro348Ala) | not provided [RCV001962252] | uncertain significance | 10 | 47349526 | 47349526 | Human | | name |
| 151874720 | CV1408541 | single nucleotide variant | NM_002900.3(RBP3):c.2833G>A (p.Gly945Arg) | not provided [RCV001906924] | uncertain significance | 10 | 47351317 | 47351317 | Human | | name |
| 151880071 | CV1411230 | single nucleotide variant | NM_002900.3(RBP3):c.2947G>A (p.Glu983Lys) | not provided [RCV002020023] | uncertain significance | 10 | 47351431 | 47351431 | Human | | name |
| 151831205 | CV1414284 | single nucleotide variant | NM_002900.3(RBP3):c.1354G>A (p.Val452Ile) | not provided [RCV001870544] | uncertain significance | 10 | 47349838 | 47349838 | Human | | name |
| 151810089 | CV1417302 | single nucleotide variant | NM_002900.3(RBP3):c.2274G>C (p.Lys758Asn) | not provided [RCV002028885] | uncertain significance | 10 | 47350758 | 47350758 | Human | | name |
| 151755616 | CV1417793 | single nucleotide variant | NM_002900.3(RBP3):c.1549A>T (p.Thr517Ser) | not provided [RCV001894767] | uncertain significance | 10 | 47350033 | 47350033 | Human | | name |
| 151878772 | CV1419072 | single nucleotide variant | NM_002900.3(RBP3):c.2528T>C (p.Leu843Pro) | not provided [RCV001982239] | uncertain significance | 10 | 47351012 | 47351012 | Human | | name |
| 151732169 | CV1419446 | single nucleotide variant | NM_002900.3(RBP3):c.2746A>G (p.Ile916Val) | not provided [RCV001946167] | uncertain significance | 10 | 47351230 | 47351230 | Human | | name |
| 151820425 | CV1422618 | single nucleotide variant | NM_002900.3(RBP3):c.1934A>C (p.His645Pro) | not provided [RCV001900828] | uncertain significance | 10 | 47350418 | 47350418 | Human | | name |
| 151841629 | CV1423790 | single nucleotide variant | NM_002900.3(RBP3):c.1747G>T (p.Asp583Tyr) | not provided [RCV001977765] | uncertain significance | 10 | 47350231 | 47350231 | Human | | name |
| 151831495 | CV1426652 | single nucleotide variant | NM_002900.3(RBP3):c.2020C>T (p.Arg674Cys) | Inborn genetic diseases [RCV002579521]|Retinal dystrophy [RCV003888967]|not provided [RCV001976696] | uncertain significance | 10 | 47350504 | 47350504 | Human | 3 | name |
| 151783281 | CV1435078 | single nucleotide variant | NM_002900.3(RBP3):c.1265G>A (p.Arg422Gln) | Retinal dystrophy [RCV003888905]|not provided [RCV001916075] | uncertain significance | 10 | 47349749 | 47349749 | Human | 2 | name |
| 151872062 | CV1435118 | single nucleotide variant | NM_002900.3(RBP3):c.1205A>G (p.Asp402Gly) | not provided [RCV001939940] | uncertain significance | 10 | 47349689 | 47349689 | Human | | name |
| 151777227 | CV1436622 | single nucleotide variant | NM_002900.3(RBP3):c.1769C>T (p.Ala590Val) | not provided [RCV001971744] | uncertain significance | 10 | 47350253 | 47350253 | Human | | name |
| 151738539 | CV1437430 | single nucleotide variant | NM_002900.3(RBP3):c.2092C>T (p.Arg698Cys) | not provided [RCV001870779] | uncertain significance | 10 | 47350576 | 47350576 | Human | | name |
| 151800704 | CV1439050 | single nucleotide variant | NM_002900.3(RBP3):c.1829G>C (p.Gly610Ala) | Inborn genetic diseases [RCV004042392]|Retinal dystrophy [RCV004816868]|not provided [RCV001990924] | uncertain significance | 10 | 47350313 | 47350313 | Human | 3 | name |
| 151833464 | CV1439366 | single nucleotide variant | NM_002900.3(RBP3):c.1808G>C (p.Gly603Ala) | not provided [RCV001976877] | uncertain significance | 10 | 47350292 | 47350292 | Human | | name |
| 151774590 | CV1440665 | single nucleotide variant | NM_002900.3(RBP3):c.1255G>A (p.Glu419Lys) | Inborn genetic diseases [RCV002554348]|not provided [RCV001896673] | uncertain significance | 10 | 47349739 | 47349739 | Human | 1 | name |
| 151715766 | CV1445560 | single nucleotide variant | NM_002900.3(RBP3):c.2597C>A (p.Thr866Lys) | not provided [RCV002002897] | uncertain significance | 10 | 47351081 | 47351081 | Human | | name |
| 151764266 | CV1447633 | single nucleotide variant | NM_002900.3(RBP3):c.2101G>A (p.Val701Met) | not provided [RCV001895693] | uncertain significance | 10 | 47350585 | 47350585 | Human | | name |
| 151760395 | CV1448517 | single nucleotide variant | NM_002900.3(RBP3):c.2485G>T (p.Val829Phe) | not provided [RCV001949069] | uncertain significance | 10 | 47350969 | 47350969 | Human | | name |
| 151816947 | CV1456829 | single nucleotide variant | NM_002900.3(RBP3):c.2180C>T (p.Thr727Ile) | Retinal dystrophy [RCV003888367]|not provided [RCV001900506] | uncertain significance | 10 | 47350664 | 47350664 | Human | 2 | name |
| 151851014 | CV1460481 | single nucleotide variant | NM_002900.3(RBP3):c.1427T>A (p.Met476Lys) | not provided [RCV001904096] | uncertain significance | 10 | 47349911 | 47349911 | Human | | name |
| 151775660 | CV1463661 | single nucleotide variant | NM_002900.3(RBP3):c.2788A>G (p.Ile930Val) | Inborn genetic diseases [RCV004955772]|not provided [RCV001896768] | uncertain significance | 10 | 47351272 | 47351272 | Human | 1 | name |
| 151735284 | CV1465771 | single nucleotide variant | NM_002900.3(RBP3):c.1036C>A (p.Arg346Ser) | not provided [RCV002041638] | uncertain significance | 10 | 47349520 | 47349520 | Human | | name |
| 151777769 | CV1466591 | single nucleotide variant | NM_002900.3(RBP3):c.1307C>T (p.Pro436Leu) | not provided [RCV001896950] | uncertain significance | 10 | 47349791 | 47349791 | Human | | name |
| 151827263 | CV1467418 | single nucleotide variant | NM_002900.3(RBP3):c.2576T>G (p.Met859Arg) | not provided [RCV001901449] | uncertain significance | 10 | 47351060 | 47351060 | Human | | name |
| 151718198 | CV1469277 | single nucleotide variant | NM_002900.3(RBP3):c.1519T>C (p.Phe507Leu) | Inborn genetic diseases [RCV005262546]|not provided [RCV002039657] | uncertain significance | 10 | 47350003 | 47350003 | Human | 1 | name |
| 151883481 | CV1476590 | single nucleotide variant | NM_002900.3(RBP3):c.1828G>A (p.Gly610Arg) | not provided [RCV001886949] | uncertain significance | 10 | 47350312 | 47350312 | Human | | name |
| 151787502 | CV1479101 | single nucleotide variant | NM_002900.3(RBP3):c.2189T>C (p.Ile730Thr) | not provided [RCV002046771] | uncertain significance | 10 | 47350673 | 47350673 | Human | | name |
| 151860249 | CV1482928 | single nucleotide variant | NM_002900.3(RBP3):c.1838C>G (p.Pro613Arg) | not provided [RCV001883829] | uncertain significance | 10 | 47350322 | 47350322 | Human | | name |
| 151876061 | CV1483336 | single nucleotide variant | NM_002900.3(RBP3):c.1758A>C (p.Glu586Asp) | not provided [RCV001907077] | uncertain significance | 10 | 47350242 | 47350242 | Human | | name |
| 151754947 | CV1483827 | single nucleotide variant | NM_002900.3(RBP3):c.2974C>A (p.Leu992Ile) | not provided [RCV001927888] | uncertain significance | 10 | 47351458 | 47351458 | Human | | name |
| 151806141 | CV1486949 | single nucleotide variant | NM_002900.3(RBP3):c.2317G>A (p.Val773Met) | not provided [RCV001918160] | uncertain significance | 10 | 47350801 | 47350801 | Human | | name |
| 151739036 | CV1490340 | single nucleotide variant | NM_002900.3(RBP3):c.1694T>C (p.Val565Ala) | not provided [RCV001985058] | uncertain significance | 10 | 47350178 | 47350178 | Human | | name |
| 151720263 | CV1491491 | single nucleotide variant | NM_002900.3(RBP3):c.1424T>C (p.Ile475Thr) | not provided [RCV002003559] | uncertain significance | 10 | 47349908 | 47349908 | Human | | name |
| 151892569 | CV1493665 | single nucleotide variant | NM_002900.3(RBP3):c.2789T>A (p.Ile930Lys) | not provided [RCV001944249] | uncertain significance | 10 | 47351273 | 47351273 | Human | | name |
| 151887121 | CV1496094 | single nucleotide variant | NM_002900.3(RBP3):c.1619T>C (p.Leu540Pro) | not provided [RCV001887701] | uncertain significance | 10 | 47350103 | 47350103 | Human | | name |
| 151864007 | CV1498658 | single nucleotide variant | NM_002900.3(RBP3):c.2488G>A (p.Ala830Thr) | Retinal dystrophy [RCV003888974]|not provided [RCV001980496] | uncertain significance | 10 | 47350972 | 47350972 | Human | 2 | name |
| 151710741 | CV1500709 | single nucleotide variant | NM_002900.3(RBP3):c.2780C>T (p.Ala927Val) | not provided [RCV002001909] | uncertain significance | 10 | 47351264 | 47351264 | Human | | name |
| 151744786 | CV1501538 | single nucleotide variant | NM_002900.3(RBP3):c.2113C>T (p.Pro705Ser) | not provided [RCV002042612] | uncertain significance | 10 | 47350597 | 47350597 | Human | | name |
| 151773167 | CV1502238 | single nucleotide variant | NM_002900.3(RBP3):c.1807G>A (p.Gly603Ser) | Retinal dystrophy [RCV003888357]|not provided [RCV001929728] | uncertain significance | 10 | 47350291 | 47350291 | Human | 2 | name |
| 151769952 | CV1504122 | single nucleotide variant | NM_002900.3(RBP3):c.2788A>T (p.Ile930Leu) | not provided [RCV002045149] | uncertain significance | 10 | 47351272 | 47351272 | Human | | name |
| 151770221 | CV1504224 | single nucleotide variant | NM_002900.3(RBP3):c.2413C>T (p.Pro805Ser) | not provided [RCV002045175] | uncertain significance | 10 | 47350897 | 47350897 | Human | | name |
| 151786676 | CV1504536 | single nucleotide variant | NM_002900.3(RBP3):c.2759T>A (p.Met920Lys) | not provided [RCV001951621] | uncertain significance | 10 | 47351243 | 47351243 | Human | | name |
| 151879826 | CV1506364 | single nucleotide variant | NM_002900.3(RBP3):c.2552C>T (p.Ala851Val) | Inborn genetic diseases [RCV004656703]|not provided [RCV001886309] | uncertain significance | 10 | 47351036 | 47351036 | Human | 1 | name |
| 151734992 | CV1508769 | single nucleotide variant | NM_002900.3(RBP3):c.1570A>G (p.Met524Val) | not provided [RCV002021701] | uncertain significance | 10 | 47350054 | 47350054 | Human | | name |
| 151718375 | CV1509593 | single nucleotide variant | NM_002900.3(RBP3):c.1777G>T (p.Val593Leu) | not provided [RCV001890692] | uncertain significance | 10 | 47350261 | 47350261 | Human | | name |
| 151873594 | CV1511296 | single nucleotide variant | NM_002900.3(RBP3):c.2416C>G (p.Arg806Gly) | not provided [RCV001960763] | uncertain significance | 10 | 47350900 | 47350900 | Human | | name |
| 151848777 | CV1511786 | single nucleotide variant | NM_002900.3(RBP3):c.2195C>T (p.Ala732Val) | not provided [RCV001978648] | uncertain significance | 10 | 47350679 | 47350679 | Human | | name |
| 151853478 | CV1514647 | single nucleotide variant | NM_002900.3(RBP3):c.2923G>C (p.Val975Leu) | not provided [RCV001979246] | uncertain significance | 10 | 47351407 | 47351407 | Human | | name |
| 151728986 | CV1515788 | single nucleotide variant | NM_002900.3(RBP3):c.1955C>T (p.Ala652Val) | not provided [RCV001983996] | uncertain significance | 10 | 47350439 | 47350439 | Human | | name |
| 151869663 | CV1516805 | single nucleotide variant | NM_002900.3(RBP3):c.2816C>T (p.Thr939Met) | not provided [RCV001981134] | uncertain significance | 10 | 47351300 | 47351300 | Human | | name |
| 155669147 | CV1770892 | single nucleotide variant | NM_002900.3(RBP3):c.1363G>C (p.Val455Leu) | not provided [RCV002297236] | uncertain significance | 10 | 47349847 | 47349847 | Human | | name |
| 9693267 | CV177130 | single nucleotide variant | NM_002900.3(RBP3):c.2743G>A (p.Asp915Asn) | not provided [RCV000153814] | uncertain significance | 10 | 47351227 | 47351227 | Human | | name |
| 9693268 | CV177261 | single nucleotide variant | NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) | Retinitis pigmentosa 66 [RCV000206960]|Retinitis pigmentosa [RCV001105648]|Retinitis pigmentosa [RCV005394521]|not provided [RCV000153815] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 47350324 | 47350324 | Human | 3 | name |
| 155671629 | CV1776080 | single nucleotide variant | NM_002900.3(RBP3):c.2830G>A (p.Ala944Thr) | not provided [RCV002297470] | uncertain significance | 10 | 47351314 | 47351314 | Human | | name |
| 155971682 | CV1889551 | single nucleotide variant | NM_002900.3(RBP3):c.2341G>A (p.Asp781Asn) | Retinal dystrophy [RCV003889230]|not provided [RCV003075210] | uncertain significance | 10 | 47350825 | 47350825 | Human | 2 | name |
| 10049422 | CV190403 | single nucleotide variant | NM_002900.3(RBP3):c.2650G>A (p.Val884Met) | Retinal dystrophy [RCV003888613]|Retinitis pigmentosa [RCV001106685]|Retinitis pigmentosa [RCV002500453]|not provided [RCV000891521]|not specified [RCV000173286] | benign|likely benign | 10 | 47351134 | 47351134 | Human | 4 | name |
| 10049425 | CV190406 | single nucleotide variant | NM_002900.3(RBP3):c.1514A>T (p.His505Leu) | Retinitis pigmentosa 66 [RCV000206920]|Retinitis pigmentosa [RCV001107413]|Retinitis pigmentosa [RCV005396518]|not provided [RCV000173289] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 47349998 | 47349998 | Human | 3 | name |
| 10049426 | CV190407 | single nucleotide variant | NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys) | Inborn genetic diseases [RCV005259994]|Retinal dystrophy [RCV003888615]|not provided [RCV000173290] | likely benign|uncertain significance | 10 | 47349577 | 47349577 | Human | 3 | name |
| 10049427 | CV190408 | single nucleotide variant | NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) | RBP3-related disorder [RCV003927582]|Retinitis pigmentosa 66 [RCV000206940]|Retinitis pigmentosa [RCV001103698]|not provided [RCV000966383]|not specified [RCV000173291] | benign|likely benign|uncertain significance | 10 | 47350652 | 47350652 | Human | 3 | name , alternate_id |
| 156413730 | CV1905409 | single nucleotide variant | NM_002900.3(RBP3):c.2557G>A (p.Glu853Lys) | Retinal dystrophy [RCV003889234]|not provided [RCV003073418] | uncertain significance | 10 | 47351041 | 47351041 | Human | 2 | name |
| 155940512 | CV1913703 | single nucleotide variant | NM_002900.3(RBP3):c.1327C>T (p.Arg443Cys) | Inborn genetic diseases [RCV002615602]|not provided [RCV002627825] | uncertain significance | 10 | 47349811 | 47349811 | Human | 1 | name |
| 156406168 | CV1921482 | single nucleotide variant | NM_002900.3(RBP3):c.1268A>C (p.Gln423Pro) | Inborn genetic diseases [RCV004961114]|not provided [RCV002606510] | uncertain significance | 10 | 47349752 | 47349752 | Human | 1 | name |
| 156444797 | CV1948524 | single nucleotide variant | NM_002900.3(RBP3):c.1478T>C (p.Leu493Pro) | not provided [RCV003115726] | likely benign | 10 | 47349962 | 47349962 | Human | | name |
| 156444866 | CV1948913 | single nucleotide variant | NM_002900.3(RBP3):c.1199C>T (p.Ala400Val) | not provided [RCV003115796] | uncertain significance | 10 | 47349683 | 47349683 | Human | | name |
| 156241819 | CV1953031 | single nucleotide variant | NM_002900.3(RBP3):c.2464G>A (p.Glu822Lys) | not provided [RCV002576245] | uncertain significance | 10 | 47350948 | 47350948 | Human | | name |
| 156159228 | CV1954728 | single nucleotide variant | NM_002900.3(RBP3):c.2353A>G (p.Asn785Asp) | Inborn genetic diseases [RCV003250520]|not provided [RCV002573163] | uncertain significance | 10 | 47350837 | 47350837 | Human | 1 | name |
| 156189933 | CV1961635 | single nucleotide variant | NM_002900.3(RBP3):c.1777G>A (p.Val593Met) | Retinal dystrophy [RCV003889119]|not provided [RCV002574377] | uncertain significance | 10 | 47350261 | 47350261 | Human | 2 | name |
| 156406175 | CV1963505 | single nucleotide variant | NM_002900.3(RBP3):c.2515G>A (p.Asp839Asn) | not provided [RCV002585816] | uncertain significance | 10 | 47350999 | 47350999 | Human | | name |
| 156417451 | CV1966960 | single nucleotide variant | NM_002900.3(RBP3):c.1733C>T (p.Thr578Met) | not provided [RCV002590197] | uncertain significance | 10 | 47350217 | 47350217 | Human | | name |
| 156417653 | CV1967092 | single nucleotide variant | NM_002900.3(RBP3):c.1177A>G (p.Thr393Ala) | not provided [RCV002590299] | uncertain significance | 10 | 47349661 | 47349661 | Human | | name |
| 156419798 | CV1970665 | single nucleotide variant | NM_002900.3(RBP3):c.1729C>G (p.Arg577Gly) | not provided [RCV002613041] | uncertain significance | 10 | 47350213 | 47350213 | Human | | name |
| 155982686 | CV1972516 | single nucleotide variant | NM_002900.3(RBP3):c.1889T>C (p.Leu630Pro) | not provided [RCV002617673] | uncertain significance | 10 | 47350373 | 47350373 | Human | | name |
| 156054190 | CV1974495 | single nucleotide variant | NM_002900.3(RBP3):c.2185C>A (p.Leu729Ile) | Inborn genetic diseases [RCV004065671]|not provided [RCV002590758] | uncertain significance | 10 | 47350669 | 47350669 | Human | 1 | name |
| 156354075 | CV1974891 | single nucleotide variant | NM_002900.3(RBP3):c.2669A>G (p.Tyr890Cys) | not provided [RCV002602035] | uncertain significance | 10 | 47351153 | 47351153 | Human | | name |
| 156323311 | CV1975224 | single nucleotide variant | NM_002900.3(RBP3):c.1993C>T (p.Arg665Trp) | not provided [RCV002630492] | uncertain significance | 10 | 47350477 | 47350477 | Human | | name |
| 156351521 | CV1978448 | single nucleotide variant | NM_002900.3(RBP3):c.1071G>T (p.Met357Ile) | not provided [RCV002601861] | uncertain significance | 10 | 47349555 | 47349555 | Human | | name |
| 156256123 | CV1981879 | single nucleotide variant | NM_002900.3(RBP3):c.1115T>A (p.Leu372His) | not provided [RCV002646057] | uncertain significance | 10 | 47349599 | 47349599 | Human | | name |
| 156342382 | CV1985004 | single nucleotide variant | NM_002900.3(RBP3):c.1818G>T (p.Trp606Cys) | not provided [RCV002631492] | uncertain significance | 10 | 47350302 | 47350302 | Human | | name |
| 155999473 | CV1987085 | single nucleotide variant | NM_002900.3(RBP3):c.2006C>G (p.Ala669Gly) | not provided [RCV002618378] | uncertain significance | 10 | 47350490 | 47350490 | Human | | name |
| 156002103 | CV1987879 | single nucleotide variant | NM_002900.3(RBP3):c.1565G>A (p.Ser522Asn) | not provided [RCV002618500] | uncertain significance | 10 | 47350049 | 47350049 | Human | | name |
| 156012381 | CV1988260 | single nucleotide variant | NM_002900.3(RBP3):c.1637C>T (p.Ala546Val) | Retinal dystrophy [RCV004817075]|not provided [RCV002618971] | uncertain significance | 10 | 47350121 | 47350121 | Human | 2 | name |
| 156330560 | CV1988951 | single nucleotide variant | NM_002900.3(RBP3):c.1220A>T (p.Asp407Val) | not provided [RCV002649794] | uncertain significance | 10 | 47349704 | 47349704 | Human | | name |
| 156398359 | CV1990858 | single nucleotide variant | NM_002900.3(RBP3):c.2650G>C (p.Val884Leu) | not provided [RCV002605362] | uncertain significance | 10 | 47351134 | 47351134 | Human | | name |
| 156228280 | CV1991675 | single nucleotide variant | NM_002900.3(RBP3):c.2911C>T (p.Arg971Cys) | not provided [RCV002626698] | uncertain significance | 10 | 47351395 | 47351395 | Human | | name |
| 156259896 | CV2000437 | single nucleotide variant | NM_002900.3(RBP3):c.2800C>T (p.Arg934Cys) | Inborn genetic diseases [RCV004958669]|not provided [RCV002627730] | uncertain significance | 10 | 47351284 | 47351284 | Human | 1 | name |
| 156207744 | CV2000742 | single nucleotide variant | NM_002900.3(RBP3):c.1957C>T (p.Arg653Trp) | Inborn genetic diseases [RCV002666729]|not provided [RCV002649930] | uncertain significance | 10 | 47350441 | 47350441 | Human | 1 | name |
| 156368705 | CV2007535 | single nucleotide variant | NM_002900.3(RBP3):c.2101G>C (p.Val701Leu) | not provided [RCV002676745] | uncertain significance | 10 | 47350585 | 47350585 | Human | | name |
| 156060841 | CV2008252 | single nucleotide variant | NM_002900.3(RBP3):c.1553A>C (p.Gln518Pro) | not provided [RCV002705380] | uncertain significance | 10 | 47350037 | 47350037 | Human | | name |
| 156120117 | CV2013702 | single nucleotide variant | NM_002900.3(RBP3):c.2705C>G (p.Thr902Ser) | Inborn genetic diseases [RCV005264258]|not provided [RCV002740164] | likely benign|uncertain significance | 10 | 47351189 | 47351189 | Human | 1 | name |
| 156228751 | CV2019572 | single nucleotide variant | NM_002900.3(RBP3):c.2014G>A (p.Ala672Thr) | not provided [RCV002701278] | uncertain significance | 10 | 47350498 | 47350498 | Human | | name |
| 156256390 | CV2025952 | single nucleotide variant | NM_002900.3(RBP3):c.1504G>C (p.Gly502Arg) | not provided [RCV002746161] | uncertain significance | 10 | 47349988 | 47349988 | Human | | name |
| 156214485 | CV2028589 | single nucleotide variant | NM_002900.3(RBP3):c.1360G>A (p.Gly454Ser) | not provided [RCV002711895] | uncertain significance | 10 | 47349844 | 47349844 | Human | | name |
| 156095103 | CV2030869 | single nucleotide variant | NM_002900.3(RBP3):c.2776A>G (p.Ile926Val) | not provided [RCV002761094] | uncertain significance | 10 | 47351260 | 47351260 | Human | | name |
| 155944956 | CV2032636 | single nucleotide variant | NM_002900.3(RBP3):c.2540C>A (p.Thr847Asn) | not provided [RCV002730348] | uncertain significance | 10 | 47351024 | 47351024 | Human | | name |
| 155916048 | CV2033537 | single nucleotide variant | NM_002900.3(RBP3):c.2697G>A (p.Met899Ile) | not provided [RCV002750472] | uncertain significance | 10 | 47351181 | 47351181 | Human | | name |
| 156032821 | CV2037051 | single nucleotide variant | NM_002900.3(RBP3):c.1283C>T (p.Ser428Phe) | not provided [RCV002781181] | uncertain significance | 10 | 47349767 | 47349767 | Human | | name |
| 10768796 | CV204543 | single nucleotide variant | NM_002900.3(RBP3):c.1037G>A (p.Arg346His) | Retinitis pigmentosa 66 [RCV000206981]|Retinitis pigmentosa [RCV001103798]|not provided [RCV000947248]|not specified [RCV001723760] | benign|uncertain significance | 10 | 47349521 | 47349521 | Human | 3 | name |
| 10768742 | CV204544 | single nucleotide variant | NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr) | Retinitis pigmentosa 66 [RCV000206905]|Retinitis pigmentosa [RCV000288845]|not provided [RCV001852525] | uncertain significance | 10 | 47349619 | 47349619 | Human | 3 | name |
| 10768772 | CV204545 | single nucleotide variant | NM_002900.3(RBP3):c.1298C>T (p.Ser433Leu) | Retinitis pigmentosa 66 [RCV000206945]|not provided [RCV001321092] | uncertain significance | 10 | 47349782 | 47349782 | Human | 1 | name |
| 10768807 | CV204546 | single nucleotide variant | NM_002900.3(RBP3):c.1327C>A (p.Arg443Ser) | Retinitis pigmentosa 66 [RCV000206995] | uncertain significance | 10 | 47349811 | 47349811 | Human | 1 | name |
| 10768787 | CV204547 | single nucleotide variant | NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg) | Retinitis pigmentosa 66 [RCV000206967]|not provided [RCV001053424] | uncertain significance | 10 | 47350037 | 47350037 | Human | 1 | name |
| 10768804 | CV204548 | single nucleotide variant | NM_002900.3(RBP3):c.1569C>G (p.His523Gln) | RBP3-related disorder [RCV003937674]|Retinitis pigmentosa 66 [RCV000206990]|not provided [RCV001439041] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 47350053 | 47350053 | Human | 1 | name , alternate_id |
| 10768751 | CV204549 | single nucleotide variant | NM_002900.3(RBP3):c.1603C>T (p.Arg535Cys) | Retinal dystrophy [RCV003888640]|Retinitis pigmentosa 66 [RCV000206916]|not provided [RCV001341968] | uncertain significance | 10 | 47350087 | 47350087 | Human | 3 | name |
| 10768823 | CV204550 | single nucleotide variant | NM_002900.3(RBP3):c.1778T>C (p.Val593Ala) | Retinitis pigmentosa 66 [RCV000207015] | uncertain significance | 10 | 47350262 | 47350262 | Human | 1 | name |
| 10768758 | CV204551 | single nucleotide variant | NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) | RBP3-related disorder [RCV003917725]|Retinal dystrophy [RCV004816319]|Retinitis pigmentosa 66 [RCV000206927]|Retinitis pigmentosa [RCV001105649]|Retinitis pigmentosa [RCV005396567]|not provided [RCV000371593] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 47350279 | 47350279 | Human | 5 | name , alternate_id |
| 10768819 | CV204552 | single nucleotide variant | NM_002900.3(RBP3):c.1844C>T (p.Ala615Val) | Retinitis pigmentosa 66 [RCV000207011] | uncertain significance | 10 | 47350328 | 47350328 | Human | 1 | name |
| 10768766 | CV204553 | single nucleotide variant | NM_002900.3(RBP3):c.2024C>T (p.Thr675Ile) | Retinitis pigmentosa 66 [RCV000206937] | uncertain significance | 10 | 47350508 | 47350508 | Human | 1 | name |
| 10768790 | CV204554 | single nucleotide variant | NM_002900.3(RBP3):c.2063C>T (p.Ala688Val) | Retinitis pigmentosa 66 [RCV000206971]|Retinitis pigmentosa [RCV001103700]|Retinitis pigmentosa [RCV005396568]|not provided [RCV001172034] | uncertain significance | 10 | 47350547 | 47350547 | Human | 3 | name |
| 10768741 | CV204555 | single nucleotide variant | NM_002900.3(RBP3):c.2077G>A (p.Val693Met) | Retinitis pigmentosa 66 [RCV000206904]|Retinitis pigmentosa [RCV001103699]|not provided [RCV000973192] | benign|uncertain significance | 10 | 47350561 | 47350561 | Human | 3 | name |
| 10768794 | CV204556 | single nucleotide variant | NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser) | Retinitis pigmentosa 66 [RCV000206977]|Retinitis pigmentosa [RCV000394626]|not provided [RCV001852526] | uncertain significance | 10 | 47350705 | 47350705 | Human | 3 | name |
| 10768737 | CV204557 | single nucleotide variant | NM_002900.3(RBP3):c.2239C>T (p.Arg747Cys) | Retinitis pigmentosa 66 [RCV000206898] | uncertain significance | 10 | 47350723 | 47350723 | Human | 1 | name |
| 10768777 | CV204558 | single nucleotide variant | NM_002900.3(RBP3):c.2355C>A (p.Asn785Lys) | Retinitis pigmentosa 66 [RCV000206953] | uncertain significance | 10 | 47350839 | 47350839 | Human | 1 | name |
| 10768811 | CV204559 | single nucleotide variant | NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys) | RBP3-related disorder [RCV004752787]|Retinal dystrophy [RCV004816320]|Retinitis pigmentosa 66 [RCV000207000]|not provided [RCV001226061] | likely benign|uncertain significance | 10 | 47350981 | 47350981 | Human | 3 | name , alternate_id |
| 10768733 | CV204560 | single nucleotide variant | NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser) | Retinitis pigmentosa 66 [RCV000206893]|Retinitis pigmentosa [RCV001106686]|not provided [RCV001046800] | uncertain significance | 10 | 47350987 | 47350987 | Human | 3 | name |
| 10768775 | CV204561 | single nucleotide variant | NM_002900.3(RBP3):c.2708C>G (p.Thr903Arg) | Retinitis pigmentosa 66 [RCV000206948] | uncertain significance | 10 | 47351192 | 47351192 | Human | 1 | name |
| 10768809 | CV204562 | single nucleotide variant | NM_002900.3(RBP3):c.2763C>A (p.Ser921Arg) | Retinitis pigmentosa 66 [RCV000206998]|not provided [RCV001307856] | uncertain significance | 10 | 47351247 | 47351247 | Human | 1 | name |
| 10768754 | CV204563 | single nucleotide variant | NM_002900.3(RBP3):c.2866G>A (p.Glu956Lys) | Retinitis pigmentosa 66 [RCV000206922]|not provided [RCV001366870] | uncertain significance | 10 | 47351350 | 47351350 | Human | 1 | name |
| 10768770 | CV204564 | single nucleotide variant | NM_002900.3(RBP3):c.2888C>T (p.Thr963Ile) | Retinitis pigmentosa 66 [RCV000206943] | uncertain significance | 10 | 47351372 | 47351372 | Human | 1 | name |
| 156348416 | CV2052072 | single nucleotide variant | NM_002900.3(RBP3):c.1157T>A (p.Leu386Gln) | not provided [RCV002811600] | uncertain significance | 10 | 47349641 | 47349641 | Human | | name |
| 156271209 | CV2055980 | single nucleotide variant | NM_002900.3(RBP3):c.1577T>C (p.Leu526Pro) | not provided [RCV002806667] | uncertain significance | 10 | 47350061 | 47350061 | Human | | name |
| 156334137 | CV2057671 | single nucleotide variant | NM_002900.3(RBP3):c.2352C>A (p.Tyr784Ter) | not provided [RCV002810842] | pathogenic | 10 | 47350836 | 47350836 | Human | | name |
| 155993692 | CV2059864 | single nucleotide variant | NM_002900.3(RBP3):c.2898C>A (p.Ser966Arg) | Inborn genetic diseases [RCV003308292]|not provided [RCV002819323] | uncertain significance | 10 | 47351382 | 47351382 | Human | 1 | name |
| 156306607 | CV2066966 | single nucleotide variant | NM_002900.3(RBP3):c.2502C>A (p.Tyr834Ter) | not provided [RCV002833887] | pathogenic | 10 | 47350986 | 47350986 | Human | | name |
| 156306935 | CV2066984 | single nucleotide variant | NM_002900.3(RBP3):c.2818G>A (p.Val940Met) | not provided [RCV002833903] | uncertain significance | 10 | 47351302 | 47351302 | Human | | name |
| 156267704 | CV2092315 | single nucleotide variant | NM_002900.3(RBP3):c.1036C>T (p.Arg346Cys) | Retinal dystrophy [RCV003889178]|not provided [RCV002895818] | uncertain significance | 10 | 47349520 | 47349520 | Human | 2 | name |
| 155994742 | CV2095681 | single nucleotide variant | NM_002900.3(RBP3):c.2866G>T (p.Glu956Ter) | not provided [RCV002908327] | pathogenic | 10 | 47351350 | 47351350 | Human | | name |
| 156321573 | CV2101053 | single nucleotide variant | NM_002900.3(RBP3):c.1943A>G (p.Glu648Gly) | not provided [RCV002899330] | uncertain significance | 10 | 47350427 | 47350427 | Human | | name |
| 156107114 | CV2108053 | single nucleotide variant | NM_002900.3(RBP3):c.2675C>T (p.Ser892Phe) | not provided [RCV002927269] | uncertain significance | 10 | 47351159 | 47351159 | Human | | name |
| 156308379 | CV2123254 | single nucleotide variant | NM_002900.3(RBP3):c.1858G>A (p.Glu620Lys) | not provided [RCV002962478] | uncertain significance | 10 | 47350342 | 47350342 | Human | | name |
| 155952119 | CV2123577 | single nucleotide variant | NM_002900.3(RBP3):c.1618C>T (p.Leu540Phe) | Inborn genetic diseases [RCV002944068]|Retinal dystrophy [RCV004817151]|not provided [RCV002971924] | uncertain significance | 10 | 47350102 | 47350102 | Human | 3 | name |
| 156358805 | CV2126280 | single nucleotide variant | NM_002900.3(RBP3):c.2203A>G (p.Lys735Glu) | not provided [RCV002966843] | uncertain significance | 10 | 47350687 | 47350687 | Human | | name |
| 156214754 | CV2127930 | single nucleotide variant | NM_002900.3(RBP3):c.1040T>G (p.Val347Gly) | not provided [RCV002957897] | uncertain significance | 10 | 47349524 | 47349524 | Human | | name |
| 155945930 | CV2130226 | single nucleotide variant | NM_002900.3(RBP3):c.2626G>A (p.Ala876Thr) | not provided [RCV002971579] | uncertain significance | 10 | 47351110 | 47351110 | Human | | name |
| 156166101 | CV2133373 | single nucleotide variant | NM_002900.3(RBP3):c.1171G>C (p.Gly391Arg) | not provided [RCV003005240] | uncertain significance | 10 | 47349655 | 47349655 | Human | | name |
| 156057441 | CV2133947 | single nucleotide variant | NM_002900.3(RBP3):c.2422C>A (p.His808Asn) | not provided [RCV003000082] | uncertain significance | 10 | 47350906 | 47350906 | Human | | name |
| 155904278 | CV2137572 | single nucleotide variant | NM_002900.3(RBP3):c.1571T>A (p.Met524Lys) | not provided [RCV003011824] | uncertain significance | 10 | 47350055 | 47350055 | Human | | name |
| 155970270 | CV2139690 | single nucleotide variant | NM_002900.3(RBP3):c.1073A>G (p.Asp358Gly) | not provided [RCV002995590] | uncertain significance | 10 | 47349557 | 47349557 | Human | | name |
| 156106079 | CV2139903 | single nucleotide variant | NM_002900.3(RBP3):c.1603C>G (p.Arg535Gly) | not provided [RCV003002398] | uncertain significance | 10 | 47350087 | 47350087 | Human | | name |
| 155962929 | CV2140775 | single nucleotide variant | NM_002900.3(RBP3):c.1718T>C (p.Leu573Pro) | not provided [RCV003015560] | uncertain significance | 10 | 47350202 | 47350202 | Human | | name |
| 155910786 | CV2141591 | single nucleotide variant | NM_002900.3(RBP3):c.1994G>A (p.Arg665Gln) | not provided [RCV002968034] | uncertain significance | 10 | 47350478 | 47350478 | Human | | name |
| 156033693 | CV2142319 | single nucleotide variant | NM_002900.3(RBP3):c.2924T>C (p.Val975Ala) | not provided [RCV002976714] | uncertain significance | 10 | 47351408 | 47351408 | Human | | name |
| 156261835 | CV2143330 | single nucleotide variant | NM_002900.3(RBP3):c.1487T>A (p.Phe496Tyr) | not provided [RCV003008951] | uncertain significance | 10 | 47349971 | 47349971 | Human | | name |
| 156017307 | CV2155215 | single nucleotide variant | NM_002900.3(RBP3):c.1683G>A (p.Trp561Ter) | not provided [RCV003018057] | pathogenic | 10 | 47350167 | 47350167 | Human | | name |
| 156293013 | CV2156533 | deletion | NM_002900.3(RBP3):c.3444del (p.Gly1149fs) | not provided [RCV003010043] | uncertain significance | 10 | 47357156 | 47357156 | Human | | name |
| 156366054 | CV2163462 | single nucleotide variant | NM_002900.3(RBP3):c.2042C>T (p.Ser681Phe) | not provided [RCV003031889] | uncertain significance | 10 | 47350526 | 47350526 | Human | | name |
| 156304803 | CV2167430 | single nucleotide variant | NM_002900.3(RBP3):c.2202C>G (p.Phe734Leu) | not provided [RCV003045727] | uncertain significance | 10 | 47350686 | 47350686 | Human | | name |
| 156397744 | CV2174708 | single nucleotide variant | NM_002900.3(RBP3):c.2855A>C (p.Tyr952Ser) | not provided [RCV003052027] | uncertain significance | 10 | 47351339 | 47351339 | Human | | name |
| 156120777 | CV2174892 | single nucleotide variant | NM_002900.3(RBP3):c.2164T>C (p.Ser722Pro) | not provided [RCV003055457] | uncertain significance | 10 | 47350648 | 47350648 | Human | | name |
| 156196246 | CV2175537 | single nucleotide variant | NM_002900.3(RBP3):c.1328G>C (p.Arg443Pro) | not provided [RCV003058003] | uncertain significance | 10 | 47349812 | 47349812 | Human | | name |
| 155960232 | CV2183404 | single nucleotide variant | NM_002900.3(RBP3):c.2423A>G (p.His808Arg) | not provided [RCV003032902] | uncertain significance | 10 | 47350907 | 47350907 | Human | | name |
| 156174309 | CV2188381 | single nucleotide variant | NM_002900.3(RBP3):c.1631G>T (p.Arg544Leu) | not provided [RCV003041130] | uncertain significance | 10 | 47350115 | 47350115 | Human | | name |
| 156253429 | CV2212552 | single nucleotide variant | NM_002900.3(RBP3):c.2137G>T (p.Ala713Ser) | Inborn genetic diseases [RCV002702584] | uncertain significance | 10 | 47350621 | 47350621 | Human | 1 | name |
| 156384133 | CV2220289 | single nucleotide variant | NM_002900.3(RBP3):c.2336T>A (p.Val779Glu) | Inborn genetic diseases [RCV002723151] | uncertain significance | 10 | 47350820 | 47350820 | Human | 1 | name |
| 156299949 | CV2244827 | single nucleotide variant | NM_002900.3(RBP3):c.1330T>G (p.Phe444Val) | Inborn genetic diseases [RCV002748455] | uncertain significance | 10 | 47349814 | 47349814 | Human | 1 | name |
| 156100488 | CV2260260 | single nucleotide variant | NM_002900.3(RBP3):c.1709C>T (p.Ala570Val) | Inborn genetic diseases [RCV002799093]|Retinal dystrophy [RCV003889270] | uncertain significance | 10 | 47350193 | 47350193 | Human | 3 | name |
| 11050315 | CV226530 | single nucleotide variant | NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser) | Retinal dystrophy [RCV000210290]|not provided [RCV001038992] | likely pathogenic|uncertain significance | 10 | 47349721 | 47349721 | Human | 2 | name |
| 156275179 | CV2287575 | single nucleotide variant | NM_002900.3(RBP3):c.1781C>T (p.Pro594Leu) | Inborn genetic diseases [RCV002877839] | uncertain significance | 10 | 47350265 | 47350265 | Human | 1 | name |
| 155930786 | CV2297068 | single nucleotide variant | NM_002900.3(RBP3):c.2749A>T (p.Thr917Ser) | Inborn genetic diseases [RCV002860941] | uncertain significance | 10 | 47351233 | 47351233 | Human | 1 | name |
| 156300734 | CV2306992 | single nucleotide variant | NM_002900.3(RBP3):c.1630C>T (p.Arg544Cys) | Inborn genetic diseases [RCV002897923] | uncertain significance | 10 | 47350114 | 47350114 | Human | 1 | name |
| 243051553 | CV2413703 | single nucleotide variant | NM_002900.3(RBP3):c.1412C>A (p.Thr471Lys) | Retinitis pigmentosa 66 [RCV003130393] | uncertain significance | 10 | 47349896 | 47349896 | Human | 1 | name |
| 329401177 | CV2446232 | single nucleotide variant | NM_002900.3(RBP3):c.2752G>A (p.Val918Met) | Inborn genetic diseases [RCV003198182] | uncertain significance | 10 | 47351236 | 47351236 | Human | 1 | name |
| 329378150 | CV2459164 | single nucleotide variant | NM_002900.3(RBP3):c.2084G>A (p.Gly695Glu) | Inborn genetic diseases [RCV003212105] | uncertain significance | 10 | 47350568 | 47350568 | Human | 1 | name |
| 11643962 | CV269269 | single nucleotide variant | NM_002900.3(RBP3):c.1928C>T (p.Thr643Ile) | not provided [RCV000402776] | uncertain significance | 10 | 47350412 | 47350412 | Human | | name |
| 401739529 | CV2718652 | single nucleotide variant | NM_002900.3(RBP3):c.2846C>T (p.Ala949Val) | Inborn genetic diseases [RCV003273973] | uncertain significance | 10 | 47351330 | 47351330 | Human | 1 | name |
| 401931500 | CV2798089 | duplication | NM_002900.3(RBP3):c.3354dup (p.Val1119fs) | RBP3-related disorder [RCV003391342] | likely pathogenic | 10 | 47355483 | 47355484 | Human | | name , trait , alternate_id |
| 11608093 | CV310349 | single nucleotide variant | NM_002900.3(RBP3):c.1123G>A (p.Gly375Ser) | Inborn genetic diseases [RCV004955405]|Retinitis pigmentosa [RCV000350740]|not provided [RCV002520591] | uncertain significance | 10 | 47349607 | 47349607 | Human | 3 | name |
| 11610259 | CV310351 | single nucleotide variant | NM_002900.3(RBP3):c.1399C>T (p.Pro467Ser) | Retinitis pigmentosa [RCV000379039]|not provided [RCV001040424] | uncertain significance | 10 | 47349883 | 47349883 | Human | 2 | name |
| 11653332 | CV310353 | single nucleotide variant | NM_002900.3(RBP3):c.2012G>A (p.Gly671Asp) | Retinitis pigmentosa [RCV000310196] | uncertain significance | 10 | 47350496 | 47350496 | Human | 2 | name |
| 11605419 | CV310362 | single nucleotide variant | NM_002900.3(RBP3):c.2416C>T (p.Arg806Cys) | Retinitis pigmentosa [RCV000319334]|not provided [RCV000968658] | benign|uncertain significance | 10 | 47350900 | 47350900 | Human | 2 | name |
| 11609300 | CV310370 | single nucleotide variant | NM_002900.3(RBP3):c.2899G>A (p.Gly967Ser) | Retinitis pigmentosa [RCV000366232]|not provided [RCV001067450] | uncertain significance | 10 | 47351383 | 47351383 | Human | 2 | name |
| 405154451 | CV3135184 | single nucleotide variant | NM_002900.3(RBP3):c.2905C>T (p.Gln969Ter) | not provided [RCV003840296] | pathogenic | 10 | 47351389 | 47351389 | Human | | name |
| 11609436 | CV315430 | single nucleotide variant | NM_002900.3(RBP3):c.1007T>C (p.Val336Ala) | Retinitis pigmentosa [RCV000367941]|not provided [RCV001207901] | uncertain significance | 10 | 47349491 | 47349491 | Human | 2 | name |
| 11610183 | CV315439 | single nucleotide variant | NM_002900.3(RBP3):c.1207G>A (p.Ala403Thr) | Retinitis pigmentosa [RCV000378014]|not provided [RCV001350649] | uncertain significance | 10 | 47349691 | 47349691 | Human | 2 | name |
| 11601999 | CV315447 | single nucleotide variant | NM_002900.3(RBP3):c.1384C>T (p.Arg462Cys) | Retinitis pigmentosa [RCV000286960]|not provided [RCV001240016] | uncertain significance | 10 | 47349868 | 47349868 | Human | 2 | name |
| 11606360 | CV315477 | single nucleotide variant | NM_002900.3(RBP3):c.2591G>A (p.Arg864Gln) | Retinitis pigmentosa [RCV000330377]|not provided [RCV001373324] | uncertain significance | 10 | 47351075 | 47351075 | Human | 2 | name |
| 405262990 | CV3188465 | single nucleotide variant | NM_002900.3(RBP3):c.2647C>G (p.Gln883Glu) | Retinal dystrophy [RCV003889529] | uncertain significance | 10 | 47351131 | 47351131 | Human | 2 | name |
| 405262992 | CV3188466 | single nucleotide variant | NM_002900.3(RBP3):c.2417G>A (p.Arg806His) | Retinal dystrophy [RCV003889530] | uncertain significance | 10 | 47350901 | 47350901 | Human | 2 | name |
| 405262996 | CV3188467 | single nucleotide variant | NM_002900.3(RBP3):c.2372C>T (p.Thr791Met) | Retinal dystrophy [RCV003889531] | uncertain significance | 10 | 47350856 | 47350856 | Human | 2 | name |
| 405262997 | CV3188469 | single nucleotide variant | NM_002900.3(RBP3):c.1902A>C (p.Gln634His) | Retinal dystrophy [RCV003889533] | uncertain significance | 10 | 47350386 | 47350386 | Human | 2 | name |
| 405263001 | CV3188470 | single nucleotide variant | NM_002900.3(RBP3):c.1753C>T (p.Pro585Ser) | Retinal dystrophy [RCV003889534] | likely benign | 10 | 47350237 | 47350237 | Human | 2 | name |
| 405263003 | CV3188473 | single nucleotide variant | NM_002900.3(RBP3):c.1589G>A (p.Arg530His) | Retinal dystrophy [RCV003889537] | uncertain significance | 10 | 47350073 | 47350073 | Human | 2 | name |
| 405263013 | CV3188474 | single nucleotide variant | NM_002900.3(RBP3):c.1588C>A (p.Arg530Ser) | Retinal dystrophy [RCV003889538] | uncertain significance | 10 | 47350072 | 47350072 | Human | 2 | name |
| 405263015 | CV3188475 | single nucleotide variant | NM_002900.3(RBP3):c.1525A>G (p.Thr509Ala) | Retinal dystrophy [RCV003889539] | uncertain significance | 10 | 47350009 | 47350009 | Human | 2 | name |
| 405263017 | CV3188476 | single nucleotide variant | NM_002900.3(RBP3):c.1502C>A (p.Ala501Asp) | Retinal dystrophy [RCV003889540] | uncertain significance | 10 | 47349986 | 47349986 | Human | 2 | name |
| 405263035 | CV3188477 | single nucleotide variant | NM_002900.3(RBP3):c.1354G>T (p.Val452Phe) | Retinal dystrophy [RCV003889541] | uncertain significance | 10 | 47349838 | 47349838 | Human | 2 | name |
| 11612177 | CV321425 | single nucleotide variant | NM_002900.3(RBP3):c.1141G>C (p.Glu381Gln) | Inborn genetic diseases [RCV002522158]|Retinal dystrophy [RCV004816530]|Retinitis pigmentosa [RCV000404738]|not provided [RCV000519611] | uncertain significance | 10 | 47349625 | 47349625 | Human | 5 | name |
| 11608492 | CV321426 | single nucleotide variant | NM_002900.3(RBP3):c.1754C>A (p.Pro585His) | Inborn genetic diseases [RCV002520589]|Retinitis pigmentosa [RCV000355676]|not provided [RCV001859783] | uncertain significance | 10 | 47350238 | 47350238 | Human | 3 | name |
| 11662918 | CV321448 | single nucleotide variant | NM_002900.3(RBP3):c.1919T>C (p.Val640Ala) | Retinitis pigmentosa [RCV000390320] | uncertain significance | 10 | 47350403 | 47350403 | Human | 2 | name |
| 11609010 | CV321462 | single nucleotide variant | NM_002900.3(RBP3):c.1933C>T (p.His645Tyr) | Retinitis pigmentosa [RCV000362609]|not provided [RCV000900247] | benign|uncertain significance | 10 | 47350417 | 47350417 | Human | 2 | name |
| 11645608 | CV321469 | single nucleotide variant | NM_002900.3(RBP3):c.2949G>C (p.Glu983Asp) | Retinitis pigmentosa [RCV000266187] | uncertain significance | 10 | 47351433 | 47351433 | Human | 2 | name |
| 11607776 | CV322179 | single nucleotide variant | NM_002900.3(RBP3):c.1146T>G (p.Asp382Glu) | Retinitis pigmentosa [RCV000347360]|not provided [RCV001327203] | uncertain significance | 10 | 47349630 | 47349630 | Human | 2 | name |
| 11644420 | CV322182 | single nucleotide variant | NM_002900.3(RBP3):c.1742T>A (p.Leu581Gln) | Retinitis pigmentosa [RCV000259849] | uncertain significance | 10 | 47350226 | 47350226 | Human | 2 | name |
| 11653871 | CV322194 | single nucleotide variant | NM_002900.3(RBP3):c.1813G>C (p.Ala605Pro) | Retinitis pigmentosa [RCV000313513] | uncertain significance | 10 | 47350297 | 47350297 | Human | 2 | name |
| 11601518 | CV322207 | single nucleotide variant | NM_002900.3(RBP3):c.2125G>T (p.Val709Leu) | Inborn genetic diseases [RCV002520588]|Retinitis pigmentosa [RCV000282751]|not provided [RCV001321364] | uncertain significance | 10 | 47350609 | 47350609 | Human | 3 | name |
| 11601064 | CV322209 | single nucleotide variant | NM_002900.3(RBP3):c.2270T>G (p.Val757Gly) | Retinitis pigmentosa [RCV000279369]|not provided [RCV001361430] | uncertain significance | 10 | 47350754 | 47350754 | Human | 2 | name |
| 11609695 | CV322243 | single nucleotide variant | NM_002900.3(RBP3):c.2407G>A (p.Ala803Thr) | Inborn genetic diseases [RCV002520587]|Retinal dystrophy [RCV003888711]|Retinitis pigmentosa [RCV000371632]|not provided [RCV001850585] | uncertain significance | 10 | 47350891 | 47350891 | Human | 5 | name |
| 11606056 | CV322252 | single nucleotide variant | NM_002900.3(RBP3):c.2626G>T (p.Ala876Ser) | Inborn genetic diseases [RCV002522157]|Retinitis pigmentosa [RCV000326768]|not provided [RCV001511061] | benign|uncertain significance | 10 | 47351110 | 47351110 | Human | 3 | name |
| 11604474 | CV322270 | single nucleotide variant | NM_002900.3(RBP3):c.2921G>A (p.Arg974Lys) | Inborn genetic diseases [RCV003165812]|Retinitis pigmentosa [RCV000309650]|not provided [RCV001297642] | uncertain significance | 10 | 47351405 | 47351405 | Human | 3 | name |
| 405681900 | CV3319231 | single nucleotide variant | NM_002900.3(RBP3):c.1322A>C (p.Tyr441Ser) | Inborn genetic diseases [RCV004443499] | uncertain significance | 10 | 47349806 | 47349806 | Human | 1 | name |
| 405681906 | CV3319232 | single nucleotide variant | NM_002900.3(RBP3):c.1444C>G (p.Pro482Ala) | Inborn genetic diseases [RCV004443500] | uncertain significance | 10 | 47349928 | 47349928 | Human | 1 | name |
| 405681913 | CV3319233 | single nucleotide variant | NM_002900.3(RBP3):c.1558C>A (p.His520Asn) | Inborn genetic diseases [RCV004443501] | uncertain significance | 10 | 47350042 | 47350042 | Human | 1 | name |
| 405681919 | CV3319234 | single nucleotide variant | NM_002900.3(RBP3):c.1573G>C (p.Glu525Gln) | Inborn genetic diseases [RCV004443502] | uncertain significance | 10 | 47350057 | 47350057 | Human | 1 | name |
| 405681923 | CV3319235 | single nucleotide variant | NM_002900.3(RBP3):c.1666A>G (p.Met556Val) | Inborn genetic diseases [RCV004443503] | uncertain significance | 10 | 47350150 | 47350150 | Human | 1 | name |
| 405681928 | CV3319236 | single nucleotide variant | NM_002900.3(RBP3):c.2532G>A (p.Met844Ile) | Inborn genetic diseases [RCV004443504] | uncertain significance | 10 | 47351016 | 47351016 | Human | 1 | name |
| 405681934 | CV3319237 | single nucleotide variant | NM_002900.3(RBP3):c.2666T>C (p.Leu889Ser) | Inborn genetic diseases [RCV004443505] | uncertain significance | 10 | 47351150 | 47351150 | Human | 1 | name |
| 405681939 | CV3319238 | single nucleotide variant | NM_002900.3(RBP3):c.2687A>G (p.Gln896Arg) | Inborn genetic diseases [RCV004443506] | uncertain significance | 10 | 47351171 | 47351171 | Human | 1 | name |
| 405681945 | CV3319239 | single nucleotide variant | NM_002900.3(RBP3):c.2732G>A (p.Gly911Asp) | Inborn genetic diseases [RCV004443507] | uncertain significance | 10 | 47351216 | 47351216 | Human | 1 | name |
| 596945697 | CV3407575 | single nucleotide variant | NM_002900.3(RBP3):c.1113G>C (p.Lys371Asn) | Retinal dystrophy [RCV004818668] | uncertain significance | 10 | 47349597 | 47349597 | Human | 2 | name |
| 596945713 | CV3407583 | single nucleotide variant | NM_002900.3(RBP3):c.1343C>T (p.Ala448Val) | Retinal dystrophy [RCV004818676] | uncertain significance | 10 | 47349827 | 47349827 | Human | 2 | name |
| 596939092 | CV3407615 | single nucleotide variant | NM_002900.3(RBP3):c.2348G>A (p.Arg783His) | Retinal dystrophy [RCV004814075] | uncertain significance | 10 | 47350832 | 47350832 | Human | 2 | name |
| 596945972 | CV3409156 | single nucleotide variant | NM_002900.3(RBP3):c.1366T>A (p.Leu456Met) | Retinal dystrophy [RCV004818790] | uncertain significance | 10 | 47349850 | 47349850 | Human | 2 | name |
| 407467880 | CV3465099 | single nucleotide variant | NM_002900.3(RBP3):c.1258G>T (p.Ala420Ser) | Inborn genetic diseases [RCV004660916] | uncertain significance | 10 | 47349742 | 47349742 | Human | 1 | name |
| 407507479 | CV3465100 | single nucleotide variant | NM_002900.3(RBP3):c.1259C>A (p.Ala420Asp) | Inborn genetic diseases [RCV004671739] | uncertain significance | 10 | 47349743 | 47349743 | Human | 1 | name |
| 407507482 | CV3465102 | single nucleotide variant | NM_002900.3(RBP3):c.1777G>C (p.Val593Leu) | Inborn genetic diseases [RCV004671740] | uncertain significance | 10 | 47350261 | 47350261 | Human | 1 | name |
| 407467890 | CV3465105 | single nucleotide variant | NM_002900.3(RBP3):c.2297G>A (p.Arg766Gln) | Inborn genetic diseases [RCV004660920] | likely benign | 10 | 47350781 | 47350781 | Human | 1 | name |
| 597708848 | CV3586224 | single nucleotide variant | NM_002900.3(RBP3):c.1657G>A (p.Ala553Thr) | Inborn genetic diseases [RCV004957669] | uncertain significance | 10 | 47350141 | 47350141 | Human | 1 | name |
| 597708842 | CV3586226 | single nucleotide variant | NM_002900.3(RBP3):c.2554G>C (p.Ala852Pro) | Inborn genetic diseases [RCV004957670] | uncertain significance | 10 | 47351038 | 47351038 | Human | 1 | name |
| 597708817 | CV3586230 | single nucleotide variant | NM_002900.3(RBP3):c.1468C>A (p.Pro490Thr) | Inborn genetic diseases [RCV004957674] | uncertain significance | 10 | 47349952 | 47349952 | Human | 1 | name |
| 597931585 | CV3742548 | single nucleotide variant | NM_002900.3(RBP3):c.2267C>G (p.Thr756Arg) | not provided [RCV005075986] | uncertain significance | 10 | 47350751 | 47350751 | Human | | name |
| 597891427 | CV3803818 | single nucleotide variant | NM_002900.3(RBP3):c.2646C>G (p.Tyr882Ter) | not provided [RCV005151379] | pathogenic | 10 | 47351130 | 47351130 | Human | | name |
| 598254922 | CV3898933 | single nucleotide variant | NM_002900.3(RBP3):c.2281G>C (p.Gly761Arg) | Inborn genetic diseases [RCV005259805] | uncertain significance | 10 | 47350765 | 47350765 | Human | 1 | name |
| 598254931 | CV3898935 | single nucleotide variant | NM_002900.3(RBP3):c.2048C>T (p.Ala683Val) | Inborn genetic diseases [RCV005259807] | uncertain significance | 10 | 47350532 | 47350532 | Human | 1 | name |
| 598176578 | CV4008153 | single nucleotide variant | NM_002900.3(RBP3):c.2644T>C (p.Tyr882His) | Retinitis pigmentosa [RCV005393669] | uncertain significance | 10 | 47351128 | 47351128 | Human | 2 | name |
| 13520126 | CV489328 | single nucleotide variant | NM_002900.3(RBP3):c.1534C>T (p.Arg512Cys) | not provided [RCV000598398] | uncertain significance | 10 | 47350018 | 47350018 | Human | | name |
| 15116705 | CV767750 | single nucleotide variant | NM_002900.3(RBP3):c.1333G>C (p.Asp445His) | Retinal dystrophy [RCV003890093]|not provided [RCV000939710] | likely benign | 10 | 47349817 | 47349817 | Human | 2 | name |
| 21072997 | CV796403 | single nucleotide variant | NM_002900.3(RBP3):c.2133G>C (p.Glu711Asp) | not provided [RCV000994385] | uncertain significance | 10 | 47350617 | 47350617 | Human | | name |
| 21073148 | CV796404 | single nucleotide variant | NM_002900.3(RBP3):c.2362A>G (p.Ser788Gly) | Inborn genetic diseases [RCV003346250]|not provided [RCV000994384] | uncertain significance | 10 | 47350846 | 47350846 | Human | 1 | name |
| 21073153 | CV796405 | single nucleotide variant | NM_002900.3(RBP3):c.2402T>C (p.Phe801Ser) | not provided [RCV000994383] | uncertain significance | 10 | 47350886 | 47350886 | Human | | name |
| 26901192 | CV836880 | single nucleotide variant | NM_002900.3(RBP3):c.1013A>G (p.Lys338Arg) | not provided [RCV001068379] | uncertain significance | 10 | 47349497 | 47349497 | Human | | name |
| 26919895 | CV836881 | single nucleotide variant | NM_002900.3(RBP3):c.1068C>G (p.Ser356Arg) | Retinal dystrophy [RCV004813598]|not provided [RCV001046612] | uncertain significance | 10 | 47349552 | 47349552 | Human | 2 | name |
| 26919369 | CV836882 | single nucleotide variant | NM_002900.3(RBP3):c.1271C>T (p.Ala424Val) | Inborn genetic diseases [RCV002553121]|not provided [RCV001045402] | uncertain significance | 10 | 47349755 | 47349755 | Human | 1 | name |
| 26920242 | CV836883 | single nucleotide variant | NM_002900.3(RBP3):c.1394G>A (p.Trp465Ter) | not provided [RCV001047198] | pathogenic | 10 | 47349878 | 47349878 | Human | | name |
| 26915796 | CV836884 | single nucleotide variant | NM_002900.3(RBP3):c.1427T>C (p.Met476Thr) | not provided [RCV001039461] | uncertain significance | 10 | 47349911 | 47349911 | Human | | name |
| 26920261 | CV836885 | single nucleotide variant | NM_002900.3(RBP3):c.1490A>G (p.Gln497Arg) | Inborn genetic diseases [RCV004031464]|not provided [RCV001047243] | likely benign|uncertain significance | 10 | 47349974 | 47349974 | Human | 1 | name |
| 26889337 | CV836886 | single nucleotide variant | NM_002900.3(RBP3):c.1733C>A (p.Thr578Lys) | Inborn genetic diseases [RCV004031837]|not provided [RCV001058126] | uncertain significance | 10 | 47350217 | 47350217 | Human | 1 | name |
| 26917342 | CV836887 | single nucleotide variant | NM_002900.3(RBP3):c.1781C>G (p.Pro594Arg) | not provided [RCV001041743] | uncertain significance | 10 | 47350265 | 47350265 | Human | | name |
| 26887932 | CV836888 | single nucleotide variant | NM_002900.3(RBP3):c.1848C>G (p.Ile616Met) | not provided [RCV001056944] | uncertain significance | 10 | 47350332 | 47350332 | Human | | name |
| 26893303 | CV836889 | single nucleotide variant | NM_002900.3(RBP3):c.1864G>T (p.Ala622Ser) | not provided [RCV001062592] | uncertain significance | 10 | 47350348 | 47350348 | Human | | name |
| 26885346 | CV836890 | single nucleotide variant | NM_002900.3(RBP3):c.1958G>A (p.Arg653Gln) | Inborn genetic diseases [RCV004031683]|not provided [RCV001053364] | uncertain significance | 10 | 47350442 | 47350442 | Human | 1 | name |
| 26921074 | CV836891 | single nucleotide variant | NM_002900.3(RBP3):c.2023A>G (p.Thr675Ala) | Inborn genetic diseases [RCV004671193]|not provided [RCV001049175] | uncertain significance | 10 | 47350507 | 47350507 | Human | 1 | name |
| 26920812 | CV836892 | single nucleotide variant | NM_002900.3(RBP3):c.2129T>C (p.Val710Ala) | not provided [RCV001048592] | uncertain significance | 10 | 47350613 | 47350613 | Human | | name |
| 26905066 | CV836893 | single nucleotide variant | NM_002900.3(RBP3):c.2156C>T (p.Ala719Val) | Retinal dystrophy [RCV001074925]|not provided [RCV001057281] | uncertain significance | 10 | 47350640 | 47350640 | Human | 2 | name |
| 26894283 | CV836894 | single nucleotide variant | NM_002900.3(RBP3):c.2194G>A (p.Ala732Thr) | not provided [RCV001063356] | uncertain significance | 10 | 47350678 | 47350678 | Human | | name |
| 26921267 | CV836895 | single nucleotide variant | NM_002900.3(RBP3):c.2544T>A (p.Ser848Arg) | not provided [RCV001049553] | uncertain significance | 10 | 47351028 | 47351028 | Human | | name |
| 26916024 | CV836896 | single nucleotide variant | NM_002900.3(RBP3):c.2597C>T (p.Thr866Met) | Inborn genetic diseases [RCV004031118]|Retinal dystrophy [RCV003890171]|not provided [RCV001039779] | uncertain significance | 10 | 47351081 | 47351081 | Human | 3 | name |
| 26891703 | CV836897 | single nucleotide variant | NM_002900.3(RBP3):c.2762G>A (p.Ser921Asn) | not provided [RCV001060786] | uncertain significance | 10 | 47351246 | 47351246 | Human | | name |
| 26901978 | CV836898 | single nucleotide variant | NM_002900.3(RBP3):c.2900G>T (p.Gly967Val) | Inborn genetic diseases [RCV002554557]|not provided [RCV001069007] | uncertain significance | 10 | 47351384 | 47351384 | Human | 1 | name |
| 26893932 | CV836899 | single nucleotide variant | NM_002900.3(RBP3):c.2991C>A (p.His997Gln) | Inborn genetic diseases [RCV002554452]|not provided [RCV001063058] | uncertain significance | 10 | 47351475 | 47351475 | Human | 1 | name |
| 26909552 | CV856664 | single nucleotide variant | NM_002900.3(RBP3):c.2523C>G (p.Tyr841Ter) | Retinal dystrophy [RCV001073631]|not provided [RCV001241759] | pathogenic|likely pathogenic | 10 | 47351007 | 47351007 | Human | 2 | name |
| 26910316 | CV856665 | single nucleotide variant | NM_002900.3(RBP3):c.2570A>C (p.His857Pro) | Retinal dystrophy [RCV001074743] | uncertain significance | 10 | 47351054 | 47351054 | Human | 2 | name |
| 28907786 | CV865890 | single nucleotide variant | NM_002900.3(RBP3):c.1264C>T (p.Arg422Trp) | Retinitis pigmentosa [RCV001107416] | uncertain significance | 10 | 47349748 | 47349748 | Human | 2 | name |
| 28907783 | CV865891 | single nucleotide variant | NM_002900.3(RBP3):c.1294G>C (p.Val432Leu) | Retinitis pigmentosa [RCV001107415] | uncertain significance | 10 | 47349778 | 47349778 | Human | 2 | name |
| 28906654 | CV865892 | single nucleotide variant | NM_002900.3(RBP3):c.1588C>T (p.Arg530Cys) | Inborn genetic diseases [RCV004032121]|Retinal dystrophy [RCV003890249]|Retinitis pigmentosa [RCV001106783]|not provided [RCV001856430] | uncertain significance | 10 | 47350072 | 47350072 | Human | 5 | name |
| 28910057 | CV865896 | single nucleotide variant | NM_002900.3(RBP3):c.2327C>A (p.Ala776Asp) | Retinitis pigmentosa [RCV001108852] | uncertain significance | 10 | 47350811 | 47350811 | Human | 2 | name |
| 28906492 | CV865897 | single nucleotide variant | NM_002900.3(RBP3):c.2497C>A (p.Arg833Ser) | Inborn genetic diseases [RCV005262250]|Retinitis pigmentosa [RCV001106687] | uncertain significance | 10 | 47350981 | 47350981 | Human | 3 | name |
| 38461825 | CV919270 | single nucleotide variant | NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr) | Retinitis pigmentosa [RCV001197952]|not provided [RCV005094059] | uncertain significance | 10 | 47351273 | 47351273 | Human | 2 | name |
| 38476426 | CV935048 | single nucleotide variant | NM_002900.3(RBP3):c.1504G>A (p.Gly502Ser) | not provided [RCV001204651] | uncertain significance | 10 | 47349988 | 47349988 | Human | | name |
| 38477112 | CV935050 | single nucleotide variant | NM_002900.3(RBP3):c.1645G>A (p.Ala549Thr) | not provided [RCV001204943] | uncertain significance | 10 | 47350129 | 47350129 | Human | | name |
| 38472231 | CV935052 | single nucleotide variant | NM_002900.3(RBP3):c.2320G>A (p.Asp774Asn) | Inborn genetic diseases [RCV002561835]|not provided [RCV001214010] | uncertain significance | 10 | 47350804 | 47350804 | Human | 1 | name |
| 38482261 | CV935053 | single nucleotide variant | NM_002900.3(RBP3):c.2341G>C (p.Asp781His) | Retinitis pigmentosa [RCV005419033]|not provided [RCV001207193] | pathogenic|uncertain significance | 10 | 47350825 | 47350825 | Human | 2 | name |
| 38486055 | CV935054 | single nucleotide variant | NM_002900.3(RBP3):c.2360G>A (p.Gly787Asp) | not provided [RCV001208730] | uncertain significance | 10 | 47350844 | 47350844 | Human | | name |
| 38475283 | CV935055 | single nucleotide variant | NM_002900.3(RBP3):c.2575A>G (p.Met859Val) | not provided [RCV001204211] | uncertain significance | 10 | 47351059 | 47351059 | Human | | name |
| 38482523 | CV946908 | single nucleotide variant | NM_002900.3(RBP3):c.1084G>T (p.Val362Leu) | not provided [RCV001235558] | uncertain significance | 10 | 47349568 | 47349568 | Human | | name |
| 38475387 | CV946909 | single nucleotide variant | NM_002900.3(RBP3):c.1216G>A (p.Glu406Lys) | Retinal dystrophy [RCV003887932]|not provided [RCV001232613] | likely benign|uncertain significance | 10 | 47349700 | 47349700 | Human | 2 | name |
| 38488847 | CV946910 | single nucleotide variant | NM_002900.3(RBP3):c.1400C>T (p.Pro467Leu) | Inborn genetic diseases [RCV002563908]|not provided [RCV001238175] | uncertain significance | 10 | 47349884 | 47349884 | Human | 1 | name |
| 38496831 | CV946911 | single nucleotide variant | NM_002900.3(RBP3):c.1538G>A (p.Arg513His) | not provided [RCV001226658] | uncertain significance | 10 | 47350022 | 47350022 | Human | | name |
| 38473684 | CV946912 | single nucleotide variant | NM_002900.3(RBP3):c.1756G>A (p.Glu586Lys) | Inborn genetic diseases [RCV002563212]|Retinitis pigmentosa 66 [RCV003132313]|not provided [RCV001231898] | uncertain significance | 10 | 47350240 | 47350240 | Human | 2 | name |
| 38484410 | CV946913 | single nucleotide variant | NM_002900.3(RBP3):c.1969G>A (p.Val657Met) | Retinal dystrophy [RCV003887940]|not provided [RCV001236326] | uncertain significance | 10 | 47350453 | 47350453 | Human | 2 | name |
| 38459445 | CV946914 | single nucleotide variant | NM_002900.3(RBP3):c.2137G>C (p.Ala713Pro) | not provided [RCV001229141] | uncertain significance | 10 | 47350621 | 47350621 | Human | | name |
| 38480632 | CV946915 | single nucleotide variant | NM_002900.3(RBP3):c.2296C>T (p.Arg766Trp) | not provided [RCV001234789] | uncertain significance | 10 | 47350780 | 47350780 | Human | | name |
| 38489378 | CV946916 | single nucleotide variant | NM_002900.3(RBP3):c.2330C>T (p.Ala777Val) | Inborn genetic diseases [RCV004034576]|not provided [RCV001238392] | uncertain significance | 10 | 47350814 | 47350814 | Human | 1 | name |
| 38470565 | CV946917 | single nucleotide variant | NM_002900.3(RBP3):c.2428T>C (p.Tyr810His) | Inborn genetic diseases [RCV003294102]|not provided [RCV001231008] | uncertain significance | 10 | 47350912 | 47350912 | Human | 1 | name |
| 38465530 | CV946918 | single nucleotide variant | NM_002900.3(RBP3):c.2816C>G (p.Thr939Arg) | not provided [RCV001230163] | uncertain significance | 10 | 47351300 | 47351300 | Human | | name |
| 38499300 | CV956064 | single nucleotide variant | NM_002900.3(RBP3):c.1077C>A (p.Phe359Leu) | not provided [RCV001244449] | uncertain significance | 10 | 47349561 | 47349561 | Human | | name |
| 38493382 | CV956065 | single nucleotide variant | NM_002900.3(RBP3):c.1258G>A (p.Ala420Thr) | Inborn genetic diseases [RCV005262334]|not provided [RCV001240649] | uncertain significance | 10 | 47349742 | 47349742 | Human | 1 | name |
| 38491858 | CV956067 | single nucleotide variant | NM_002900.3(RBP3):c.1442A>C (p.Asn481Thr) | Inborn genetic diseases [RCV005262332]|not provided [RCV001239714] | uncertain significance | 10 | 47349926 | 47349926 | Human | 1 | name |
| 38465106 | CV956068 | single nucleotide variant | NM_002900.3(RBP3):c.1870G>A (p.Asp624Asn) | not provided [RCV001247502] | uncertain significance | 10 | 47350354 | 47350354 | Human | | name |
| 38499094 | CV956069 | single nucleotide variant | NM_002900.3(RBP3):c.1923G>T (p.Glu641Asp) | not provided [RCV001244229] | uncertain significance | 10 | 47350407 | 47350407 | Human | | name |
| 38498491 | CV956070 | single nucleotide variant | NM_002900.3(RBP3):c.2092C>G (p.Arg698Gly) | not provided [RCV001243862] | uncertain significance | 10 | 47350576 | 47350576 | Human | | name |
| 38497038 | CV956072 | single nucleotide variant | NM_002900.3(RBP3):c.2623G>A (p.Gly875Ser) | not provided [RCV001242936] | uncertain significance | 10 | 47351107 | 47351107 | Human | | name |
| 38492128 | CV956074 | single nucleotide variant | NM_002900.3(RBP3):c.2936T>A (p.Val979Glu) | not provided [RCV001239917] | uncertain significance | 10 | 47351420 | 47351420 | Human | | name |
| 40815994 | CV967091 | single nucleotide variant | NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter) | Autosomal recessive retinitis pigmentosa [RCV001257783]|Retinitis pigmentosa 66 [RCV001376320]|not provided [RCV003558771] | pathogenic|conflicting interpretations of pathogenicity | 10 | 47349646 | 47349646 | Human | 2 | name |
| 126766510 | CV993840 | single nucleotide variant | NM_002900.3(RBP3):c.1282T>C (p.Ser428Pro) | not provided [RCV001301907] | uncertain significance | 10 | 47349766 | 47349766 | Human | | name |
| 126732041 | CV993841 | single nucleotide variant | NM_002900.3(RBP3):c.1333G>A (p.Asp445Asn) | Inborn genetic diseases [RCV005262351]|not provided [RCV001294492] | uncertain significance | 10 | 47349817 | 47349817 | Human | 1 | name |
| 126740006 | CV993842 | single nucleotide variant | NM_002900.3(RBP3):c.1450G>A (p.Gly484Arg) | not provided [RCV001295699] | uncertain significance | 10 | 47349934 | 47349934 | Human | | name |
| 126754043 | CV993843 | single nucleotide variant | NM_002900.3(RBP3):c.1613A>G (p.Tyr538Cys) | not provided [RCV001307536] | uncertain significance | 10 | 47350097 | 47350097 | Human | | name |
| 126754692 | CV993844 | single nucleotide variant | NM_002900.3(RBP3):c.1636G>A (p.Ala546Thr) | not provided [RCV001307688] | uncertain significance | 10 | 47350120 | 47350120 | Human | | name |
| 126756303 | CV993845 | single nucleotide variant | NM_002900.3(RBP3):c.1919T>G (p.Val640Gly) | not provided [RCV001298543] | uncertain significance | 10 | 47350403 | 47350403 | Human | | name |
| 126732113 | CV993846 | single nucleotide variant | NM_002900.3(RBP3):c.2021G>A (p.Arg674His) | Retinal dystrophy [RCV004815306]|not provided [RCV001304028] | uncertain significance | 10 | 47350505 | 47350505 | Human | 2 | name |
| 126743462 | CV993847 | single nucleotide variant | NM_002900.3(RBP3):c.2158G>T (p.Val720Phe) | Inborn genetic diseases [RCV002543045]|not provided [RCV001296193] | uncertain significance | 10 | 47350642 | 47350642 | Human | 1 | name |
| 126747752 | CV993848 | single nucleotide variant | NM_002900.3(RBP3):c.2206A>G (p.Thr736Ala) | not provided [RCV001296791] | uncertain significance | 10 | 47350690 | 47350690 | Human | | name |
| 126736600 | CV993849 | single nucleotide variant | NM_002900.3(RBP3):c.2240G>A (p.Arg747His) | Inborn genetic diseases [RCV002543110]|Retinitis pigmentosa 66 [RCV003135941]|not provided [RCV001304765] | uncertain significance | 10 | 47350724 | 47350724 | Human | 2 | name |
| 126750455 | CV993850 | single nucleotide variant | NM_002900.3(RBP3):c.2257G>A (p.Glu753Lys) | not provided [RCV001297323] | uncertain significance | 10 | 47350741 | 47350741 | Human | | name |
| 126752253 | CV993851 | single nucleotide variant | NM_002900.3(RBP3):c.2273A>G (p.Lys758Arg) | not provided [RCV001307193] | uncertain significance | 10 | 47350757 | 47350757 | Human | | name |
| 126764951 | CV993852 | single nucleotide variant | NM_002900.3(RBP3):c.2580G>T (p.Gln860His) | not provided [RCV001301295] | uncertain significance | 10 | 47351064 | 47351064 | Human | | name |
| 126762060 | CV993853 | single nucleotide variant | NM_002900.3(RBP3):c.2617G>A (p.Ala873Thr) | not provided [RCV001309780] | uncertain significance | 10 | 47351101 | 47351101 | Human | | name |
| 126758146 | CV993854 | single nucleotide variant | NM_002900.3(RBP3):c.2672C>T (p.Ala891Val) | not provided [RCV001308629] | uncertain significance | 10 | 47351156 | 47351156 | Human | | name |
| 126746178 | CV993855 | single nucleotide variant | NM_002900.3(RBP3):c.2888C>A (p.Thr963Asn) | not provided [RCV001296542] | uncertain significance | 10 | 47351372 | 47351372 | Human | | name |
| 126746782 | CV993856 | single nucleotide variant | NM_002900.3(RBP3):c.2974C>T (p.Leu992Phe) | Inborn genetic diseases [RCV003373098]|not provided [RCV001296631] | uncertain significance | 10 | 47351458 | 47351458 | Human | 1 | name |
| 8641004 | CV99989 | single nucleotide variant | NM_002900.3(RBP3):c.1631G>A (p.Arg544His) | RBP3-related disorder [RCV003974966]|Retinitis pigmentosa 66 [RCV000206963]|Retinitis pigmentosa [RCV001106782]|not provided [RCV000966384]|not specified [RCV000080036] | benign|likely benign|uncertain significance | 10 | 47350115 | 47350115 | Human | 3 | name , alternate_id |
| 151792600 | CV1341494 | single nucleotide variant | NM_002900.3(RBP3):c.3611G>A (p.Ser1204Asn) | not provided [RCV001866383] | uncertain significance | 10 | 47357324 | 47357324 | Human | | name |
| 151822398 | CV1352015 | single nucleotide variant | NM_002900.3(RBP3):c.3265A>G (p.Thr1089Ala) | not provided [RCV002013514] | uncertain significance | 10 | 47355395 | 47355395 | Human | | name |
| 151831678 | CV1354490 | single nucleotide variant | NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln) | Retinal dystrophy [RCV004815666]|Retinitis pigmentosa 66 [RCV002468646]|not provided [RCV001880369] | likely pathogenic|uncertain significance | 10 | 47355471 | 47355471 | Human | 3 | name |
| 151816803 | CV1433229 | single nucleotide variant | NM_002900.3(RBP3):c.3590C>T (p.Ser1197Phe) | not provided [RCV001954362] | uncertain significance | 10 | 47357303 | 47357303 | Human | | name |
| 151785437 | CV1435341 | single nucleotide variant | NM_002900.3(RBP3):c.3625G>C (p.Val1209Leu) | not provided [RCV001916269] | uncertain significance | 10 | 47357338 | 47357338 | Human | | name |
| 151833686 | CV1446674 | single nucleotide variant | NM_002900.3(RBP3):c.3487C>T (p.Arg1163Trp) | not provided [RCV002031052] | uncertain significance | 10 | 47357200 | 47357200 | Human | | name |
| 151768839 | CV1450864 | single nucleotide variant | NM_002900.3(RBP3):c.3008T>A (p.Ile1003Asn) | not provided [RCV001929319] | uncertain significance | 10 | 47351492 | 47351492 | Human | | name |
| 151819697 | CV1488390 | single nucleotide variant | NM_002900.3(RBP3):c.3631G>T (p.Val1211Leu) | not provided [RCV001975608] | uncertain significance | 10 | 47357344 | 47357344 | Human | | name |
| 151838389 | CV1492635 | single nucleotide variant | NM_002900.3(RBP3):c.3109G>A (p.Val1037Met) | not provided [RCV002051467] | uncertain significance | 10 | 47353379 | 47353379 | Human | | name |
| 151839021 | CV1492821 | single nucleotide variant | NM_002900.3(RBP3):c.3656C>A (p.Ala1219Glu) | not provided [RCV001881116] | uncertain significance | 10 | 47357369 | 47357369 | Human | | name |
| 151785730 | CV1495335 | single nucleotide variant | NM_002900.3(RBP3):c.3496G>T (p.Val1166Phe) | not provided [RCV002026693] | uncertain significance | 10 | 47357209 | 47357209 | Human | | name |
| 151834395 | CV1505031 | single nucleotide variant | NM_002900.3(RBP3):c.3389G>C (p.Gly1130Ala) | not provided [RCV001976977] | uncertain significance | 10 | 47357102 | 47357102 | Human | | name |
| 151890053 | CV1514525 | single nucleotide variant | NM_002900.3(RBP3):c.3059C>T (p.Pro1020Leu) | not provided [RCV001963553] | uncertain significance | 10 | 47353329 | 47353329 | Human | | name |
| 155744372 | CV1773058 | single nucleotide variant | NM_002900.3(RBP3):c.3215T>C (p.Met1072Thr) | not provided [RCV002303112] | uncertain significance | 10 | 47353485 | 47353485 | Human | | name |
| 156097904 | CV2007487 | single nucleotide variant | NM_002900.3(RBP3):c.3140T>C (p.Phe1047Ser) | not provided [RCV002695192] | uncertain significance | 10 | 47353410 | 47353410 | Human | | name |
| 156123171 | CV2020988 | single nucleotide variant | NM_002900.3(RBP3):c.3417G>A (p.Met1139Ile) | not provided [RCV002740278] | uncertain significance | 10 | 47357130 | 47357130 | Human | | name |
| 156019588 | CV2029187 | single nucleotide variant | NM_002900.3(RBP3):c.3631G>A (p.Val1211Met) | not provided [RCV002735311] | uncertain significance | 10 | 47357344 | 47357344 | Human | | name |
| 155927903 | CV2095831 | single nucleotide variant | NM_002900.3(RBP3):c.3577C>T (p.Pro1193Ser) | not provided [RCV002903667] | uncertain significance | 10 | 47357290 | 47357290 | Human | | name |
| 155974241 | CV2148921 | single nucleotide variant | NM_002900.3(RBP3):c.3194A>T (p.Glu1065Val) | not provided [RCV003016081] | uncertain significance | 10 | 47353464 | 47353464 | Human | | name |
| 155967562 | CV2152277 | single nucleotide variant | NM_002900.3(RBP3):c.3473T>C (p.Met1158Thr) | not provided [RCV003015777] | uncertain significance | 10 | 47357186 | 47357186 | Human | | name |
| 401776724 | CV2703334 | single nucleotide variant | NM_002900.3(RBP3):c.3699C>G (p.Asn1233Lys) | Inborn genetic diseases [RCV003263316] | uncertain significance | 10 | 47357412 | 47357412 | Human | 1 | name |
| 401883688 | CV2785736 | single nucleotide variant | NM_002900.3(RBP3):c.3521G>A (p.Gly1174Asp) | Inborn genetic diseases [RCV003386241] | uncertain significance | 10 | 47357234 | 47357234 | Human | 1 | name |
| 405148406 | CV2962918 | single nucleotide variant | NM_002900.3(RBP3):c.3395G>A (p.Arg1132His) | not provided [RCV003673823] | uncertain significance | 10 | 47357108 | 47357108 | Human | | name |
| 405262967 | CV3188457 | single nucleotide variant | NM_002900.3(RBP3):c.3709G>A (p.Val1237Met) | Inborn genetic diseases [RCV004661812]|Retinal dystrophy [RCV003889521] | uncertain significance | 10 | 47357422 | 47357422 | Human | 3 | name |
| 405262971 | CV3188459 | single nucleotide variant | NM_002900.3(RBP3):c.3459G>C (p.Glu1153Asp) | Retinal dystrophy [RCV003889523] | likely pathogenic | 10 | 47357172 | 47357172 | Human | 2 | name |
| 405262972 | CV3188460 | single nucleotide variant | NM_002900.3(RBP3):c.3307G>A (p.Gly1103Ser) | Retinal dystrophy [RCV003889524] | uncertain significance | 10 | 47355437 | 47355437 | Human | 2 | name |
| 405262974 | CV3188462 | single nucleotide variant | NM_002900.3(RBP3):c.3085A>C (p.Ile1029Leu) | Retinal dystrophy [RCV003889526] | uncertain significance | 10 | 47353355 | 47353355 | Human | 2 | name |
| 405681955 | CV3319241 | single nucleotide variant | NM_002900.3(RBP3):c.3166C>T (p.Leu1056Phe) | Inborn genetic diseases [RCV004443509] | uncertain significance | 10 | 47353436 | 47353436 | Human | 1 | name |
| 405681958 | CV3319242 | single nucleotide variant | NM_002900.3(RBP3):c.3221C>T (p.Thr1074Met) | Inborn genetic diseases [RCV004443510]|Retinal dystrophy [RCV004818452] | uncertain significance | 10 | 47353491 | 47353491 | Human | 3 | name |
| 405681962 | CV3319243 | single nucleotide variant | NM_002900.3(RBP3):c.3356T>C (p.Val1119Ala) | Inborn genetic diseases [RCV004443511] | uncertain significance | 10 | 47355486 | 47355486 | Human | 1 | name |
| 405681967 | CV3319244 | single nucleotide variant | NM_002900.3(RBP3):c.3440C>G (p.Thr1147Arg) | Inborn genetic diseases [RCV004443512] | uncertain significance | 10 | 47357153 | 47357153 | Human | 1 | name |
| 596941766 | CV3408264 | single nucleotide variant | NM_002900.3(RBP3):c.3432C>A (p.Ser1144Arg) | Retinal dystrophy [RCV004815935] | uncertain significance | 10 | 47357145 | 47357145 | Human | 2 | name |
| 596941770 | CV3408265 | single nucleotide variant | NM_002900.3(RBP3):c.3681G>C (p.Lys1227Asn) | Retinal dystrophy [RCV004815936] | uncertain significance | 10 | 47357394 | 47357394 | Human | 2 | name |
| 596942548 | CV3408507 | single nucleotide variant | NM_002900.3(RBP3):c.3253A>G (p.Ile1085Val) | Retinal dystrophy [RCV004816178] | uncertain significance | 10 | 47355383 | 47355383 | Human | 2 | name |
| 407467886 | CV3465103 | single nucleotide variant | NM_002900.3(RBP3):c.3520G>A (p.Gly1174Ser) | Inborn genetic diseases [RCV004660918] | uncertain significance | 10 | 47357233 | 47357233 | Human | 1 | name |
| 597708837 | CV3586227 | single nucleotide variant | NM_002900.3(RBP3):c.3583G>A (p.Ala1195Thr) | Inborn genetic diseases [RCV004957671] | uncertain significance | 10 | 47357296 | 47357296 | Human | 1 | name |
| 597860077 | CV3817229 | single nucleotide variant | NM_002900.3(RBP3):c.3399T>G (p.Tyr1133Ter) | not provided [RCV005146609] | uncertain significance | 10 | 47357112 | 47357112 | Human | | name |
| 8611935 | CV59491 | single nucleotide variant | NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn) | Retinitis pigmentosa 66 [RCV000043517]|not provided [RCV001852909] | pathogenic | 10 | 47353508 | 47353508 | Human | 1 | name |
| 21073158 | CV796406 | single nucleotide variant | NM_002900.3(RBP3):c.3622G>A (p.Gly1208Arg) | not provided [RCV000994382] | uncertain significance | 10 | 47357335 | 47357335 | Human | | name |
| 21405139 | CV800554 | single nucleotide variant | NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter) | Cone-rod dystrophy [RCV002267760] | pathogenic | 10 | 47355509 | 47355509 | Human | 3 | name |
| 38464622 | CV801421 | single nucleotide variant | NM_002900.3(RBP3):c.3050T>A (p.Met1017Lys) | Retinitis pigmentosa [RCV001199530] | pathogenic | 10 | 47351534 | 47351534 | Human | 2 | name |
| 26913850 | CV836900 | single nucleotide variant | NM_002900.3(RBP3):c.3005A>T (p.His1002Leu) | not provided [RCV001036587] | uncertain significance | 10 | 47351489 | 47351489 | Human | | name |
| 26916717 | CV836901 | single nucleotide variant | NM_002900.3(RBP3):c.3029G>A (p.Arg1010His) | not provided [RCV001040834] | uncertain significance | 10 | 47351513 | 47351513 | Human | | name |
| 26901743 | CV836902 | single nucleotide variant | NM_002900.3(RBP3):c.3157G>A (p.Gly1053Ser) | Inborn genetic diseases [RCV002555873]|not provided [RCV001068846] | uncertain significance | 10 | 47353427 | 47353427 | Human | 1 | name |
| 26885002 | CV836903 | single nucleotide variant | NM_002900.3(RBP3):c.3376G>A (p.Ala1126Thr) | Retinitis pigmentosa [RCV005394685]|not provided [RCV001052927] | uncertain significance | 10 | 47355506 | 47355506 | Human | 2 | name |
| 26912887 | CV836904 | single nucleotide variant | NM_002900.3(RBP3):c.3377C>T (p.Ala1126Val) | not provided [RCV001034888] | uncertain significance | 10 | 47355507 | 47355507 | Human | | name |
| 26891829 | CV836905 | single nucleotide variant | NM_002900.3(RBP3):c.3451G>A (p.Ala1151Thr) | not provided [RCV001060955] | uncertain significance | 10 | 47357164 | 47357164 | Human | | name |
| 26888417 | CV836906 | single nucleotide variant | NM_002900.3(RBP3):c.3587G>A (p.Arg1196His) | Inborn genetic diseases [RCV004031811]|not provided [RCV001057426] | uncertain significance | 10 | 47357300 | 47357300 | Human | 1 | name |
| 26921967 | CV836907 | single nucleotide variant | NM_002900.3(RBP3):c.3602C>T (p.Ser1201Leu) | not provided [RCV001051143] | uncertain significance | 10 | 47357315 | 47357315 | Human | | name |
| 26915425 | CV836908 | single nucleotide variant | NM_002900.3(RBP3):c.3667C>T (p.Leu1223Phe) | Retinitis pigmentosa [RCV001103600]|not provided [RCV001038996] | uncertain significance | 10 | 47357380 | 47357380 | Human | 2 | name |
| 26884694 | CV836909 | single nucleotide variant | NM_002900.3(RBP3):c.3719G>T (p.Ser1240Ile) | not provided [RCV001052379] | uncertain significance | 10 | 47357432 | 47357432 | Human | | name |
| 26910315 | CV856666 | single nucleotide variant | NM_002900.3(RBP3):c.3452C>T (p.Ala1151Val) | Retinal dystrophy [RCV001074742] | uncertain significance | 10 | 47357165 | 47357165 | Human | 2 | name |
| 26909553 | CV856667 | single nucleotide variant | NM_002900.3(RBP3):c.3637C>T (p.Pro1213Ser) | Retinal dystrophy [RCV001073632]|not provided [RCV001228185] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 47357350 | 47357350 | Human | 2 | name |
| 28899982 | CV865900 | single nucleotide variant | NM_002900.3(RBP3):c.3382G>A (p.Val1128Ile) | Retinitis pigmentosa [RCV001103603] | uncertain significance | 10 | 47355512 | 47355512 | Human | 2 | name |
| 8633636 | CV88851 | single nucleotide variant | NM_002900.2(RBP3):c.3586C>T (p.Arg1196Cys) | Malignant melanoma [RCV000068946] | not provided | 10 | 47357299 | 47357299 | Human | | name |
| 38472091 | CV935056 | single nucleotide variant | NM_002900.3(RBP3):c.3670G>T (p.Ala1224Ser) | Inborn genetic diseases [RCV004960524]|not provided [RCV001203028] | uncertain significance | 10 | 47357383 | 47357383 | Human | 1 | name |
| 38476448 | CV935057 | single nucleotide variant | NM_002900.3(RBP3):c.3715C>T (p.Arg1239Trp) | not provided [RCV001204659] | uncertain significance | 10 | 47357428 | 47357428 | Human | | name |
| 38459078 | CV946919 | single nucleotide variant | NM_002900.3(RBP3):c.3091T>C (p.Phe1031Leu) | not provided [RCV001229070] | uncertain significance | 10 | 47353361 | 47353361 | Human | | name |
| 38473872 | CV946920 | single nucleotide variant | NM_002900.3(RBP3):c.3340C>T (p.Arg1114Trp) | not provided [RCV001231983] | uncertain significance | 10 | 47355470 | 47355470 | Human | | name |
| 38465395 | CV946921 | single nucleotide variant | NM_002900.3(RBP3):c.3511A>T (p.Thr1171Ser) | not provided [RCV001230136] | uncertain significance | 10 | 47357224 | 47357224 | Human | | name |
| 38497262 | CV956075 | single nucleotide variant | NM_002900.3(RBP3):c.3374A>G (p.His1125Arg) | not provided [RCV001243064] | uncertain significance | 10 | 47355504 | 47355504 | Human | | name |
| 38499294 | CV956076 | single nucleotide variant | NM_002900.3(RBP3):c.3716G>A (p.Arg1239Gln) | not provided [RCV001244441] | uncertain significance | 10 | 47357429 | 47357429 | Human | | name |
| 10050712 | CV192345 | single nucleotide variant | NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) | RBP3-related disorder [RCV003947489]|Retinitis pigmentosa 66 [RCV000206994]|not provided [RCV000175739] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 47353332 | 47353332 | Human | 1 | alternate_id |
| 151737187 | CV1469384 | single nucleotide variant | NM_002900.3(RBP3):c.3637C>A (p.Pro1213Thr) | not provided [RCV002041846] | uncertain significance | 10 | 47357350 | 47357350 | Human | | name |
| 156367836 | CV2160126 | single nucleotide variant | NM_002900.3(RBP3):c.3224A>G (p.Asp1075Gly) | not provided [RCV003032007] | uncertain significance | 10 | 47353494 | 47353494 | Human | | name |