| 15150502 | CV708387 | single nucleotide variant | NM_017750.4(RETSAT):c.45C>T (p.Ala15=) | not provided [RCV000967957] | benign | 2 | 85354463 | 85354463 | Human | | name |
| 405695294 | CV3315962 | single nucleotide variant | NM_017750.4(RETSAT):c.82A>G (p.Ser28Gly) | not specified [RCV004446101] | uncertain significance | 2 | 85354426 | 85354426 | Human | | name |
| 597765447 | CV3593542 | single nucleotide variant | NM_017750.4(RETSAT):c.52T>A (p.Cys18Ser) | not specified [RCV004850040] | uncertain significance | 2 | 85354456 | 85354456 | Human | | name |
| 15100111 | CV719983 | single nucleotide variant | NM_017750.4(RETSAT):c.780C>T (p.Ser260=) | not provided [RCV000892051] | benign | 2 | 85350059 | 85350059 | Human | | name |
| 156375846 | CV2210340 | single nucleotide variant | NM_017750.4(RETSAT):c.170A>G (p.Gln57Arg) | not specified [RCV004089495] | uncertain significance | 2 | 85354338 | 85354338 | Human | | name |
| 156094193 | CV2300284 | single nucleotide variant | NM_017750.4(RETSAT):c.166A>C (p.Lys56Gln) | not specified [RCV004153241] | uncertain significance | 2 | 85354342 | 85354342 | Human | | name |
| 156067168 | CV2356627 | single nucleotide variant | NM_017750.4(RETSAT):c.292C>A (p.Gln98Lys) | not specified [RCV004201990] | uncertain significance | 2 | 85351743 | 85351743 | Human | | name |
| 401777906 | CV2718383 | single nucleotide variant | NM_017750.4(RETSAT):c.266C>T (p.Ala89Val) | not specified [RCV004318211] | uncertain significance | 2 | 85351769 | 85351769 | Human | | name |
| 401878866 | CV2754857 | single nucleotide variant | NM_017750.4(RETSAT):c.211G>A (p.Val71Met) | not specified [RCV004341332] | uncertain significance | 2 | 85351824 | 85351824 | Human | | name |
| 401885398 | CV2762915 | single nucleotide variant | NM_017750.4(RETSAT):c.218T>C (p.Ile73Thr) | not specified [RCV004342666] | uncertain significance | 2 | 85351817 | 85351817 | Human | | name |
| 401912183 | CV2812059 | deletion | NM_017750.4(RETSAT):c.402del (p.Phe134fs) | not provided [RCV003427085] | likely benign | 2 | 85350975 | 85350975 | Human | | name |
| 405695268 | CV3315957 | single nucleotide variant | NM_017750.4(RETSAT):c.200A>C (p.Lys67Thr) | not specified [RCV004446096] | uncertain significance | 2 | 85351835 | 85351835 | Human | | name |
| 597731558 | CV3593537 | single nucleotide variant | NM_017750.4(RETSAT):c.251C>A (p.Ala84Glu) | not specified [RCV004863144] | uncertain significance | 2 | 85351784 | 85351784 | Human | | name |
| 597731590 | CV3593541 | single nucleotide variant | NM_017750.4(RETSAT):c.194C>T (p.Pro65Leu) | not specified [RCV004863147] | uncertain significance | 2 | 85351841 | 85351841 | Human | | name |
| 15175641 | CV697683 | single nucleotide variant | NM_017750.4(RETSAT):c.1810C>A (p.Arg604=) | not provided [RCV000950637] | benign | 2 | 85343265 | 85343265 | Human | | name |
| 15156066 | CV697684 | single nucleotide variant | NM_017750.4(RETSAT):c.1296G>A (p.Ala432=) | not provided [RCV000946621] | benign | 2 | 85344309 | 85344309 | Human | | name |
| 156225461 | CV2203053 | single nucleotide variant | NM_017750.4(RETSAT):c.404T>A (p.Ile135Asn) | not specified [RCV004069304] | uncertain significance | 2 | 85350973 | 85350973 | Human | | name |
| 155935359 | CV2225564 | single nucleotide variant | NM_017750.4(RETSAT):c.667G>C (p.Asp223His) | not specified [RCV004100943] | uncertain significance | 2 | 85350172 | 85350172 | Human | | name |
| 155921222 | CV2240495 | single nucleotide variant | NM_017750.4(RETSAT):c.947C>G (p.Thr316Arg) | not specified [RCV004119161] | uncertain significance | 2 | 85349434 | 85349434 | Human | | name |
| 155997875 | CV2260916 | single nucleotide variant | NM_017750.4(RETSAT):c.569T>A (p.Ile190Asn) | not specified [RCV004125805] | uncertain significance | 2 | 85350808 | 85350808 | Human | | name |
| 156177978 | CV2374561 | single nucleotide variant | NM_017750.4(RETSAT):c.320A>G (p.His107Arg) | not specified [RCV004225190] | uncertain significance | 2 | 85351715 | 85351715 | Human | | name |
| 329381619 | CV2467339 | single nucleotide variant | NM_017750.4(RETSAT):c.392T>C (p.Ile131Thr) | not specified [RCV004285131] | uncertain significance | 2 | 85350985 | 85350985 | Human | | name |
| 401724419 | CV2677873 | single nucleotide variant | NM_017750.4(RETSAT):c.937G>A (p.Ala313Thr) | not specified [RCV004294366] | uncertain significance | 2 | 85349444 | 85349444 | Human | | name |
| 401899837 | CV2758937 | single nucleotide variant | NM_017750.4(RETSAT):c.677G>A (p.Gly226Glu) | not specified [RCV004340014] | uncertain significance | 2 | 85350162 | 85350162 | Human | | name |
| 401889124 | CV2761833 | single nucleotide variant | NM_017750.4(RETSAT):c.808C>G (p.Pro270Ala) | not specified [RCV004339476] | uncertain significance | 2 | 85349573 | 85349573 | Human | | name |
| 405695277 | CV3315959 | single nucleotide variant | NM_017750.4(RETSAT):c.368T>C (p.Ile123Thr) | not specified [RCV004446098] | uncertain significance | 2 | 85351009 | 85351009 | Human | | name |
| 405695283 | CV3315960 | single nucleotide variant | NM_017750.4(RETSAT):c.689G>A (p.Arg230His) | not specified [RCV004446099] | uncertain significance | 2 | 85350150 | 85350150 | Human | | name |
| 405695289 | CV3315961 | single nucleotide variant | NM_017750.4(RETSAT):c.803T>A (p.Val268Asp) | not specified [RCV004446100] | uncertain significance | 2 | 85349578 | 85349578 | Human | | name |
| 405695299 | CV3315963 | single nucleotide variant | NM_017750.4(RETSAT):c.932G>A (p.Gly311Glu) | not specified [RCV004446102] | uncertain significance | 2 | 85349449 | 85349449 | Human | | name |
| 407459428 | CV3465496 | single nucleotide variant | NM_017750.4(RETSAT):c.374G>A (p.Arg125His) | not specified [RCV004658222] | uncertain significance | 2 | 85351003 | 85351003 | Human | | name |
| 407459433 | CV3465497 | single nucleotide variant | NM_017750.4(RETSAT):c.507G>A (p.Met169Ile) | not specified [RCV004658223] | uncertain significance | 2 | 85350870 | 85350870 | Human | | name |
| 597765428 | CV3593532 | single nucleotide variant | NM_017750.4(RETSAT):c.898G>A (p.Ala300Thr) | not specified [RCV004850035] | uncertain significance | 2 | 85349483 | 85349483 | Human | | name |
| 597765432 | CV3593534 | single nucleotide variant | NM_017750.4(RETSAT):c.577A>G (p.Lys193Glu) | not specified [RCV004850036] | uncertain significance | 2 | 85350800 | 85350800 | Human | | name |
| 597765440 | CV3593536 | single nucleotide variant | NM_017750.4(RETSAT):c.814C>T (p.His272Tyr) | not specified [RCV004850038] | uncertain significance | 2 | 85349567 | 85349567 | Human | | name |
| 597765443 | CV3593539 | single nucleotide variant | NM_017750.4(RETSAT):c.572T>C (p.Ile191Thr) | not specified [RCV004850039] | uncertain significance | 2 | 85350805 | 85350805 | Human | | name |
| 597731578 | CV3593540 | single nucleotide variant | NM_017750.4(RETSAT):c.491G>A (p.Arg164Gln) | not specified [RCV004863146] | uncertain significance | 2 | 85350886 | 85350886 | Human | | name |
| 597765458 | CV3593547 | single nucleotide variant | NM_017750.4(RETSAT):c.431T>G (p.Leu144Arg) | not specified [RCV004850043] | uncertain significance | 2 | 85350946 | 85350946 | Human | | name |
| 597765462 | CV3593548 | single nucleotide variant | NM_017750.4(RETSAT):c.715A>C (p.Thr239Pro) | not specified [RCV004850044] | uncertain significance | 2 | 85350124 | 85350124 | Human | | name |
| 597731635 | CV3593553 | single nucleotide variant | NM_017750.4(RETSAT):c.884G>A (p.Gly295Asp) | not specified [RCV004863151] | uncertain significance | 2 | 85349497 | 85349497 | Human | | name |
| 597731644 | CV3593554 | single nucleotide variant | NM_017750.4(RETSAT):c.385G>C (p.Gly129Arg) | not specified [RCV004863152] | uncertain significance | 2 | 85350992 | 85350992 | Human | | name |
| 598216092 | CV3905632 | single nucleotide variant | NM_017750.4(RETSAT):c.311G>T (p.Gly104Val) | not specified [RCV005271805] | uncertain significance | 2 | 85351724 | 85351724 | Human | | name |
| 8630474 | CV85629 | single nucleotide variant | NM_017750.3(RETSAT):c.512G>A (p.Ser171Asn) | Malignant melanoma [RCV000065712] | not provided | 2 | 85350865 | 85350865 | Human | | name |
| 155925360 | CV2211818 | single nucleotide variant | NM_017750.4(RETSAT):c.1343C>T (p.Pro448Leu) | not specified [RCV004086645] | uncertain significance | 2 | 85344262 | 85344262 | Human | | name |
| 155977058 | CV2231771 | single nucleotide variant | NM_017750.4(RETSAT):c.1187G>A (p.Gly396Asp) | not specified [RCV004098585] | uncertain significance | 2 | 85344663 | 85344663 | Human | | name |
| 156245501 | CV2267498 | single nucleotide variant | NM_017750.4(RETSAT):c.1037A>G (p.Tyr346Cys) | not specified [RCV004135922] | uncertain significance | 2 | 85346055 | 85346055 | Human | | name |
| 156249822 | CV2314191 | single nucleotide variant | NM_017750.4(RETSAT):c.1817A>C (p.Gln606Pro) | not specified [RCV004166266] | uncertain significance | 2 | 85343258 | 85343258 | Human | | name |
| 156335514 | CV2333538 | single nucleotide variant | NM_017750.4(RETSAT):c.1768C>T (p.Arg590Trp) | not specified [RCV004190225] | uncertain significance | 2 | 85343307 | 85343307 | Human | | name |
| 156286144 | CV2334909 | single nucleotide variant | NM_017750.4(RETSAT):c.1658G>A (p.Arg553Lys) | not specified [RCV004182015] | uncertain significance | 2 | 85343674 | 85343674 | Human | | name |
| 156286155 | CV2334910 | single nucleotide variant | NM_017750.4(RETSAT):c.1675C>A (p.Pro559Thr) | not specified [RCV004182016] | uncertain significance | 2 | 85343657 | 85343657 | Human | | name |
| 156275871 | CV2351877 | single nucleotide variant | NM_017750.4(RETSAT):c.1562T>C (p.Leu521Pro) | not specified [RCV004198020] | uncertain significance | 2 | 85343770 | 85343770 | Human | | name |
| 156068645 | CV2355687 | single nucleotide variant | NM_017750.4(RETSAT):c.1148C>A (p.Pro383His) | not specified [RCV004199049] | uncertain significance | 2 | 85344702 | 85344702 | Human | | name |
| 329368076 | CV2427682 | single nucleotide variant | NM_017750.4(RETSAT):c.1445G>A (p.Arg482Gln) | not specified [RCV004250304] | uncertain significance | 2 | 85344087 | 85344087 | Human | | name |
| 329390938 | CV2437451 | single nucleotide variant | NM_017750.4(RETSAT):c.1628G>A (p.Arg543His) | not specified [RCV004256316] | uncertain significance | 2 | 85343704 | 85343704 | Human | | name |
| 329396154 | CV2451924 | single nucleotide variant | NM_017750.4(RETSAT):c.1699G>T (p.Asp567Tyr) | not specified [RCV004276594] | uncertain significance | 2 | 85343376 | 85343376 | Human | | name |
| 329386740 | CV2452478 | single nucleotide variant | NM_017750.4(RETSAT):c.1362C>A (p.Phe454Leu) | not specified [RCV004273080] | uncertain significance | 2 | 85344243 | 85344243 | Human | | name |
| 401754028 | CV2685139 | single nucleotide variant | NM_017750.4(RETSAT):c.1003A>G (p.Ser335Gly) | not specified [RCV004289705] | uncertain significance | 2 | 85346089 | 85346089 | Human | | name |
| 401721336 | CV2709920 | single nucleotide variant | NM_017750.4(RETSAT):c.1720G>C (p.Val574Leu) | not specified [RCV004314995] | uncertain significance | 2 | 85343355 | 85343355 | Human | | name |
| 401732064 | CV2712278 | single nucleotide variant | NM_017750.4(RETSAT):c.1700A>G (p.Asp567Gly) | not specified [RCV004313774] | uncertain significance | 2 | 85343375 | 85343375 | Human | | name |
| 401759234 | CV2712489 | single nucleotide variant | NM_017750.4(RETSAT):c.1810C>T (p.Arg604Trp) | not specified [RCV004313949] | uncertain significance | 2 | 85343265 | 85343265 | Human | | name |
| 401753637 | CV2722535 | single nucleotide variant | NM_017750.4(RETSAT):c.1633C>T (p.His545Tyr) | not specified [RCV004322917] | uncertain significance | 2 | 85343699 | 85343699 | Human | | name |
| 405695227 | CV3315949 | single nucleotide variant | NM_017750.4(RETSAT):c.1060G>A (p.Ala354Thr) | not specified [RCV004446088] | uncertain significance | 2 | 85346032 | 85346032 | Human | | name |
| 405695232 | CV3315950 | single nucleotide variant | NM_017750.4(RETSAT):c.1101C>G (p.Asn367Lys) | not specified [RCV004446089] | uncertain significance | 2 | 85345991 | 85345991 | Human | | name |
| 405695238 | CV3315951 | single nucleotide variant | NM_017750.4(RETSAT):c.1139C>T (p.Thr380Met) | not specified [RCV004446090] | likely benign | 2 | 85344711 | 85344711 | Human | | name |
| 405695241 | CV3315952 | single nucleotide variant | NM_017750.4(RETSAT):c.1184G>A (p.Arg395Gln) | not specified [RCV004446091] | likely benign | 2 | 85344666 | 85344666 | Human | | name |
| 405695247 | CV3315953 | single nucleotide variant | NM_017750.4(RETSAT):c.1324T>C (p.Phe442Leu) | not specified [RCV004446092] | uncertain significance | 2 | 85344281 | 85344281 | Human | | name |
| 405695253 | CV3315954 | single nucleotide variant | NM_017750.4(RETSAT):c.1414G>C (p.Glu472Gln) | not specified [RCV004446093] | uncertain significance | 2 | 85344118 | 85344118 | Human | | name |
| 405695259 | CV3315955 | single nucleotide variant | NM_017750.4(RETSAT):c.1490C>T (p.Ser497Phe) | not specified [RCV004446094] | uncertain significance | 2 | 85344042 | 85344042 | Human | | name |
| 405695264 | CV3315956 | single nucleotide variant | NM_017750.4(RETSAT):c.1813G>A (p.Ala605Thr) | not specified [RCV004446095] | uncertain significance | 2 | 85343262 | 85343262 | Human | | name |
| 407459436 | CV3465498 | single nucleotide variant | NM_017750.4(RETSAT):c.1106G>A (p.Arg369His) | not specified [RCV004658224] | uncertain significance | 2 | 85345986 | 85345986 | Human | | name |
| 407459439 | CV3465499 | single nucleotide variant | NM_017750.4(RETSAT):c.1732C>A (p.Gln578Lys) | not specified [RCV004658225] | uncertain significance | 2 | 85343343 | 85343343 | Human | | name |
| 597765436 | CV3593535 | single nucleotide variant | NM_017750.4(RETSAT):c.1358G>A (p.Arg453Gln) | not specified [RCV004850037] | uncertain significance | 2 | 85344247 | 85344247 | Human | | name |
| 597731568 | CV3593538 | single nucleotide variant | NM_017750.4(RETSAT):c.1811G>A (p.Arg604Gln) | not specified [RCV004863145] | likely benign | 2 | 85343264 | 85343264 | Human | | name |
| 597765451 | CV3593543 | single nucleotide variant | NM_017750.4(RETSAT):c.1669C>T (p.Pro557Ser) | not specified [RCV004850041] | uncertain significance | 2 | 85343663 | 85343663 | Human | | name |
| 597731612 | CV3593546 | single nucleotide variant | NM_017750.4(RETSAT):c.1498G>A (p.Val500Met) | not specified [RCV004863149] | uncertain significance | 2 | 85344034 | 85344034 | Human | | name |
| 597765466 | CV3593549 | single nucleotide variant | NM_017750.4(RETSAT):c.1438G>A (p.Gly480Arg) | not specified [RCV004850045] | uncertain significance | 2 | 85344094 | 85344094 | Human | | name |
| 597765470 | CV3593550 | single nucleotide variant | NM_017750.4(RETSAT):c.1100A>C (p.Asn367Thr) | not specified [RCV004850046] | uncertain significance | 2 | 85345992 | 85345992 | Human | | name |
| 597765473 | CV3593551 | single nucleotide variant | NM_017750.4(RETSAT):c.1759A>G (p.Ile587Val) | not specified [RCV004850047] | uncertain significance | 2 | 85343316 | 85343316 | Human | | name |
| 597731623 | CV3593552 | single nucleotide variant | NM_017750.4(RETSAT):c.1539G>C (p.Glu513Asp) | not specified [RCV004863150] | likely benign | 2 | 85343793 | 85343793 | Human | | name |
| 598216054 | CV3905627 | single nucleotide variant | NM_017750.4(RETSAT):c.1150G>A (p.Gly384Ser) | not specified [RCV005271800] | likely benign | 2 | 85344700 | 85344700 | Human | | name |
| 598216069 | CV3905629 | single nucleotide variant | NM_017750.4(RETSAT):c.1760T>C (p.Ile587Thr) | not specified [RCV005271802] | uncertain significance | 2 | 85343315 | 85343315 | Human | | name |
| 598216076 | CV3905630 | single nucleotide variant | NM_017750.4(RETSAT):c.1787T>G (p.Leu596Arg) | not specified [RCV005271803] | uncertain significance | 2 | 85343288 | 85343288 | Human | | name |
| 598216083 | CV3905631 | single nucleotide variant | NM_017750.4(RETSAT):c.1147C>G (p.Pro383Ala) | not specified [RCV005271804] | uncertain significance | 2 | 85344703 | 85344703 | Human | | name |
| 15175646 | CV697685 | single nucleotide variant | NM_017750.4(RETSAT):c.1295C>T (p.Ala432Val) | not provided [RCV000950638] | benign | 2 | 85344310 | 85344310 | Human | | name |
| 15150495 | CV708386 | deletion | NM_017750.4(RETSAT):c.1458_1459del (p.Tyr486_Glu487delinsTer) | not provided [RCV000967956] | benign | 2 | 85344073 | 85344074 | Human | | name |