| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cone-rod dystrophy 5 |
Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs77580616, rs750932326, rs775491788, rs368515060, rs76024428, rs138671220, rs139119218, rs11654175, rs146899730, rs61755429, rs367702668, rs148451236, rs11654099, rs73346359, rs938288, rs149964592, rs34897053, rs3809835, rs28493751, rs886053274, rs56787229, rs773713375, rs552116533, rs563717612, rs562895550, rs886053292, rs548870374, rs4796329, rs58508424, rs886053295, rs570375031, rs186452214, rs886053297, rs189434615, rs144737056, rs548588951, rs373564103, rs371282530, rs761342538, rs762779113, rs777876563, rs886053302, rs3169862, rs11078630, rs3809839, rs72830303, rs547660659, rs188929777, rs549677933, rs111943449, rs4796331, rs4796500, rs886053298, rs370756871, rs886053299, rs7225547, rs144563288, rs145148072, rs140298487, rs886053301, rs142749216, rs886053275, rs57360986, rs142047814, rs188088185, rs57115440, rs779802158, rs570730657, rs74390995, rs4796499, rs886053296, rs750289060, rs886053300, rs74748737, rs147943969, rs61755430, rs549825421, rs773821376, rs369702538, rs574669515, rs553844137, rs746634506, rs56400419, rs28593105, rs4796330, rs562178969, rs753609983, rs191391858, rs7218551, rs779765367, rs147071422, rs12449488, rs542520491, rs375605801, rs146033772, rs549384558, rs141380388, rs145880642, rs572344237, rs886053303, rs781691392, rs149585484, rs146074870, rs199749069, rs918411536, rs145961702, rs371539500, rs572030994, rs906119341, rs1372700734, rs966895099, rs57271171, rs377452533, rs866089694, rs1913871593, rs1913878110, rs1913879958, rs752958452, rs1006953333, rs192300339, rs1221151054, rs1055891777, rs1913908744, rs1597354935, rs1008761194, rs778011901, rs761623031, rs1913963952, rs1913966100, rs565463582, rs372757907, rs1258478802, rs1913973057, rs141728004, rs961511171, rs951966240, rs1214063181, rs766352141, rs1376828420, rs1383497573, rs141159316, rs754442529, rs186009079, rs758234075, rs1905059038, rs143785279, rs371498505, rs776506570, rs751707041, rs1189044377, rs773305845, rs145362623, rs1905873332, rs768310521, rs1471395517, rs961764718, rs756226356 View all (142 more) |
RCV000348714 RCV001335165 RCV002488278 RCV002471143 RCV000002071 RCV001122614 RCV000297049 RCV000266401 RCV000291683 RCV001128420 RCV000343196 RCV000269181 RCV000383674 RCV000344171 RCV000334970 RCV000405056 RCV000404139 RCV000333183 RCV000375929 RCV000293177 RCV000338826 RCV000370981 RCV000363560 RCV000319719 RCV000360835 RCV000406096 RCV000302775 RCV000272630 RCV000333403 RCV000286999 RCV000397060 RCV000314445 RCV000354021 RCV000380413 RCV000322443 RCV000305194 RCV000326606 RCV000282242 RCV000303535 RCV000365269 RCV000336552 RCV000287398 RCV000397862 RCV000380263 RCV000351796 RCV000404185 RCV000375528 RCV000317404 RCV000283602 RCV000347990 RCV000306384 RCV000366804 RCV000352464 RCV000403462 RCV000355498 RCV000265204 RCV000384582 RCV000387920 RCV000386888 RCV000363448 RCV000274623 RCV000335251 RCV000304660 RCV000397871 RCV000310344 RCV000284457 RCV000396468 RCV000287509 RCV000326869 RCV000309132 RCV000403076 RCV000283783 RCV000393371 RCV000354224 RCV000357545 RCV000304564 RCV000272448 RCV000275881 RCV000279103 RCV000406584 RCV000280101 RCV000314827 RCV000336964 RCV000405770 RCV000387994 RCV000274946 RCV000330277 RCV000281007 RCV000372221 RCV000342094 RCV000262665 RCV000320094 RCV000261536 RCV000391440 RCV000327733 RCV000296173 RCV000306475 RCV000385407 RCV000379494 RCV000340023 RCV001125305 RCV001125306 RCV002482099 RCV001128419 RCV001125843 RCV001125844 RCV001125845 RCV001125846 RCV001127957 RCV001127958 RCV001127959 RCV001122198 RCV001122199 RCV001122200 RCV001122201 RCV001122202 RCV001124978 RCV001128056 RCV001128057 RCV001122294 RCV001125085 RCV001125086 RCV001125087 RCV001126059 RCV001126060 RCV001126061 RCV001126062 RCV001128149 RCV001122414 RCV001122415 RCV001122416 RCV001122417 RCV001122418 RCV001125194 RCV001125195 RCV001125196 RCV001126174 RCV001126175 RCV001128248 RCV001122516 RCV001122517 RCV001122518 RCV001125307 RCV001126279 RCV001126280 RCV001128326 RCV001128327 RCV001128328 RCV001128329 RCV001122615 RCV001123700 RCV001123701 RCV001123702 RCV001123703 RCV001126369 RCV001126370 RCV001122714 RCV001122715 RCV001199221 |
| Cone-Rod Dystrophy, Dominant |
Uncertain significance; Likely benign; Benign |
rs1555549891, rs879195140, rs886053279, rs1555549918, rs112833778, rs886053291, rs552929922, rs886053277, rs753516251, rs553650590, rs796340486, rs570855209, rs560454526, rs57661669, rs61555153, rs750929247, rs200905881, rs796279837, rs144836655, rs147582461, rs886053294, rs748647107, rs200809389, rs886053278, rs55984944, rs886053289, rs760233482, rs553739885 View all (13 more) |
RCV000325627 RCV000385677 RCV000339370 RCV000402622 RCV000296515 RCV000281899 RCV000363791 RCV000331078 RCV000282006 RCV000278104 RCV000265837 RCV000384762 RCV000381518 RCV000268959 RCV000403937 RCV000363378 RCV000359426 RCV000270701 RCV000365241 RCV000276041 RCV000318367 RCV000271638 RCV000342467 RCV000358036 RCV000323487 RCV000317996 RCV000342390 RCV000308906 RCV000320912 RCV000351364 RCV000385613 RCV000296953 RCV000295274 |
| PITPNM3-related disorder |
Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs766116886, rs111643862, rs199586869, rs771991481, rs142145870, rs76024428, rs138671220, rs139901820, rs61755429, rs148451236, rs2543962672, rs771598616, rs74878323, rs74748737, rs146033772, rs141380388, rs181321395, rs760013043, rs781691392, rs148983036 View all (5 more) |
RCV003938754 RCV003953788 RCV003938746 RCV003921182 RCV003958607 RCV003934792 RCV003945210 RCV003937592 RCV003907598 RCV003937645 RCV003418951 RCV003410911 RCV003962015 RCV003940285 RCV003910238 RCV003912347 RCV003975562 RCV003958173 RCV003906151 RCV003963129 |
| Retinal dystrophy |
Uncertain significance; Conflicting classifications of pathogenicity |
rs148826628, rs76024428, rs2150711588, rs759141007, rs1914044665, rs143807935, rs974807683, rs949951182, rs766391410, rs757430953 |
RCV004815396 RCV004814793 RCV004818397 RCV004813687 RCV001075574 RCV001075133 RCV001073866 RCV001075639 RCV001075050 RCV004815310 |
| Retinitis pigmentosa |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs76024428, rs139119218, rs61755430 |
RCV000787861 RCV000787862 RCV000989687 |
|