| 11545720 | CV256107 | single nucleotide variant | NM_005148.4(UNC119):c.*1C>T | Cone-rod dystrophy [RCV000302810]|Idiopathic CD4 lymphocytopenia [RCV000989774]|not provided [RCV004709455]|not specified [RCV000245518] | benign | 17 | 28547296 | 28547296 | Human | 5 | name |
| 28898657 | CV877087 | single nucleotide variant | NM_005148.4(UNC119):c.*7G>A | Cone-rod dystrophy [RCV001123661] | likely benign | 17 | 28547290 | 28547290 | Human | 3 | name |
| 11614587 | CV327866 | single nucleotide variant | NM_005148.4(UNC119):c.*83G>C | Cone-rod dystrophy [RCV000278119] | benign|likely benign | 17 | 28547214 | 28547214 | Human | 3 | name |
| 11620538 | CV327876 | single nucleotide variant | NM_005148.4(UNC119):c.*78C>T | Cone-rod dystrophy [RCV000337894] | uncertain significance | 17 | 28547219 | 28547219 | Human | 3 | name |
| 11657438 | CV327901 | single nucleotide variant | NM_005148.4(UNC119):c.-38C>T | Cone-rod dystrophy [RCV000341198] | uncertain significance | 17 | 28552595 | 28552595 | Human | 3 | name |
| 11661525 | CV337718 | single nucleotide variant | NM_005148.4(UNC119):c.-44A>G | Cone-rod dystrophy [RCV000377185] | uncertain significance | 17 | 28552601 | 28552601 | Human | 3 | name |
| 11614992 | CV343938 | single nucleotide variant | NM_005148.4(UNC119):c.-34G>T | Cone-rod dystrophy [RCV000281461] | uncertain significance | 17 | 28552591 | 28552591 | Human | 3 | name |
| 11632265 | CV345374 | single nucleotide variant | NM_005148.4(UNC119):c.*72C>T | Cone-rod dystrophy [RCV000401579] | benign|likely benign | 17 | 28547225 | 28547225 | Human | 3 | name |
| 11627730 | CV345396 | single nucleotide variant | NM_005148.4(UNC119):c.-66T>G | Cone-rod dystrophy [RCV000287425] | benign|likely benign | 17 | 28552623 | 28552623 | Human | 3 | name |
| 11619970 | CV337702 | single nucleotide variant | NM_005148.4(UNC119):c.*362C>G | Cone-rod dystrophy [RCV000331326] | benign|likely benign | 17 | 28546935 | 28546935 | Human | 3 | name |
| 11624387 | CV337706 | single nucleotide variant | NM_005148.4(UNC119):c.*287T>G | Cone-rod dystrophy [RCV000385591] | uncertain significance | 17 | 28547010 | 28547010 | Human | 3 | name |
| 11651006 | CV337708 | single nucleotide variant | NM_005148.4(UNC119):c.*265G>A | Cone-rod dystrophy [RCV000296186] | uncertain significance | 17 | 28547032 | 28547032 | Human | 3 | name |
| 11615944 | CV343921 | single nucleotide variant | NM_005148.4(UNC119):c.*385T>C | Cone-rod dystrophy [RCV000290311] | likely benign|uncertain significance | 17 | 28546912 | 28546912 | Human | 3 | name |
| 11621677 | CV343930 | single nucleotide variant | NM_005148.4(UNC119):c.*226C>T | Cone-rod dystrophy [RCV000351060] | benign|likely benign | 17 | 28547071 | 28547071 | Human | 3 | name |
| 11632068 | CV345373 | single nucleotide variant | NM_005148.4(UNC119):c.*140A>G | Cone-rod dystrophy [RCV000396488] | benign|likely benign | 17 | 28547157 | 28547157 | Human | 3 | name |
| 28895730 | CV877084 | single nucleotide variant | NM_005148.4(UNC119):c.*378G>A | Cone-rod dystrophy [RCV001122575] | uncertain significance | 17 | 28546919 | 28546919 | Human | 3 | name |
| 28898649 | CV877085 | single nucleotide variant | NM_005148.4(UNC119):c.*181G>A | Cone-rod dystrophy [RCV001123659] | uncertain significance | 17 | 28547116 | 28547116 | Human | 3 | name |
| 28898653 | CV877086 | single nucleotide variant | NM_005148.4(UNC119):c.*115G>A | Cone-rod dystrophy [RCV001123660] | uncertain significance | 17 | 28547182 | 28547182 | Human | 3 | name |
| 126917800 | CV1050109 | single nucleotide variant | NM_005148.4(UNC119):c.610+5G>A | not provided [RCV001361371] | uncertain significance | 17 | 28547672 | 28547672 | Human | | name |
| 127277331 | CV1104613 | single nucleotide variant | NM_005148.4(UNC119):c.611-4G>T | not provided [RCV001444305] | likely benign | 17 | 28547413 | 28547413 | Human | | name |
| 127331819 | CV1126033 | single nucleotide variant | NM_005148.4(UNC119):c.437+8G>A | not provided [RCV001471799] | likely benign | 17 | 28547991 | 28547991 | Human | | name |
| 127291425 | CV1126034 | single nucleotide variant | NM_005148.4(UNC119):c.335-8C>T | not provided [RCV001451487] | likely benign | 17 | 28548109 | 28548109 | Human | | name |
| 151717195 | CV1346338 | single nucleotide variant | NM_005148.4(UNC119):c.437+1G>T | not provided [RCV001965401] | uncertain significance | 17 | 28547998 | 28547998 | Human | | name |
| 152138755 | CV1565224 | single nucleotide variant | NM_005148.4(UNC119):c.610+7G>A | not provided [RCV002083874] | likely benign | 17 | 28547670 | 28547670 | Human | | name |
| 152065350 | CV1576293 | single nucleotide variant | NM_005148.4(UNC119):c.220+7A>G | not provided [RCV002209251] | likely benign | 17 | 28552331 | 28552331 | Human | | name |
| 152124233 | CV1634219 | single nucleotide variant | NM_005148.4(UNC119):c.221-5C>T | not provided [RCV002217183] | likely benign | 17 | 28548710 | 28548710 | Human | | name |
| 156256259 | CV1960835 | single nucleotide variant | NM_005148.4(UNC119):c.610+6C>T | not provided [RCV002576698] | uncertain significance | 17 | 28547671 | 28547671 | Human | | name |
| 156416294 | CV1976514 | single nucleotide variant | NM_005148.4(UNC119):c.335-7A>G | not provided [RCV002589624] | likely benign | 17 | 28548108 | 28548108 | Human | | name |
| 156393354 | CV2019124 | single nucleotide variant | NM_005148.4(UNC119):c.437+8G>T | UNC119-related disorder [RCV003898489]|not provided [RCV002725272] | likely benign | 17 | 28547991 | 28547991 | Human | 1 | name , trait , alternate_id |
| 156283439 | CV2186994 | duplication | NM_005148.4(UNC119):c.334+1dup | not provided [RCV003044856] | uncertain significance | 17 | 28548590 | 28548591 | Human | | name |
| 405235673 | CV3040954 | single nucleotide variant | NM_005148.4(UNC119):c.610+9G>T | not provided [RCV003712314] | uncertain significance | 17 | 28547668 | 28547668 | Human | | name |
| 405185565 | CV3160150 | single nucleotide variant | NM_005148.4(UNC119):c.334+4A>G | not provided [RCV003859205] | uncertain significance | 17 | 28548588 | 28548588 | Human | | name |
| 11617988 | CV327886 | single nucleotide variant | NM_005148.4(UNC119):c.437+7C>T | Cone-rod dystrophy [RCV000309377]|UNC119-related disorder [RCV003922363]|not provided [RCV001402818] | benign|likely benign | 17 | 28547992 | 28547992 | Human | 4 | name , trait , alternate_id |
| 38495169 | CV960194 | single nucleotide variant | NM_005148.4(UNC119):c.437+1G>A | not provided [RCV001225545] | uncertain significance | 17 | 28547998 | 28547998 | Human | | name |
| 127321777 | CV1146934 | single nucleotide variant | NM_005148.4(UNC119):c.611-12C>T | not provided [RCV001504852] | likely benign | 17 | 28547421 | 28547421 | Human | | name |
| 127290364 | CV1157923 | deletion | NM_005148.4(UNC119):c.335-19del | not provided [RCV001509803] | benign | 17 | 28548120 | 28548120 | Human | | name |
| 156170093 | CV1956220 | single nucleotide variant | NM_005148.4(UNC119):c.611-18G>A | not provided [RCV002573785] | likely benign|uncertain significance | 17 | 28547427 | 28547427 | Human | | name |
| 156396529 | CV1980546 | single nucleotide variant | NM_005148.4(UNC119):c.220+17G>A | not provided [RCV002605172] | likely benign | 17 | 28552321 | 28552321 | Human | | name |
| 156355101 | CV2005107 | single nucleotide variant | NM_005148.4(UNC119):c.611-18G>T | not provided [RCV002675864] | likely benign | 17 | 28547427 | 28547427 | Human | | name |
| 156094391 | CV2012726 | single nucleotide variant | NM_005148.4(UNC119):c.437+20G>T | not provided [RCV002706430] | likely benign | 17 | 28547979 | 28547979 | Human | | name |
| 156221322 | CV2084035 | single nucleotide variant | NM_005148.4(UNC119):c.334+17G>T | not provided [RCV002875880] | likely benign | 17 | 28548575 | 28548575 | Human | | name |
| 156040364 | CV2146741 | single nucleotide variant | NM_005148.4(UNC119):c.611-13G>T | not provided [RCV003019033] | likely benign | 17 | 28547422 | 28547422 | Human | | name |
| 405044163 | CV2859662 | single nucleotide variant | NM_005148.4(UNC119):c.335-11G>C | not provided [RCV003579285] | likely benign | 17 | 28548112 | 28548112 | Human | | name |
| 405029721 | CV2926058 | single nucleotide variant | NM_005148.4(UNC119):c.335-12G>A | not provided [RCV003578269] | likely benign | 17 | 28548113 | 28548113 | Human | | name |
| 402483414 | CV2937595 | single nucleotide variant | NM_005148.4(UNC119):c.220+12C>T | not provided [RCV003659853] | likely benign | 17 | 28552326 | 28552326 | Human | | name |
| 405134537 | CV2955627 | single nucleotide variant | NM_005148.4(UNC119):c.610+18T>C | not provided [RCV003668674] | likely benign | 17 | 28547659 | 28547659 | Human | | name |
| 405041845 | CV3007579 | single nucleotide variant | NM_005148.4(UNC119):c.610+17T>C | not provided [RCV003696384] | likely benign | 17 | 28547660 | 28547660 | Human | | name |
| 405235422 | CV3166277 | single nucleotide variant | NM_005148.4(UNC119):c.610+14G>T | not provided [RCV003853726] | uncertain significance | 17 | 28547663 | 28547663 | Human | | name |
| 11626319 | CV345387 | single nucleotide variant | NM_005148.4(UNC119):c.220+15G>C | Cone-rod dystrophy [RCV000261090]|not provided [RCV001512311] | benign|likely benign | 17 | 28552323 | 28552323 | Human | 3 | name |
| 597872949 | CV3747265 | single nucleotide variant | NM_005148.4(UNC119):c.438-11T>C | not provided [RCV005068949] | likely benign | 17 | 28547860 | 28547860 | Human | | name |
| 405088304 | CV2943404 | single nucleotide variant | NM_005148.4(UNC119):c.6G>A (p.Lys2=) | not provided [RCV003665107] | likely benign | 17 | 28552552 | 28552552 | Human | | name |
| 127330294 | CV1126037 | single nucleotide variant | NM_005148.4(UNC119):c.18C>T (p.Gly6=) | not provided [RCV001470790] | likely benign | 17 | 28552540 | 28552540 | Human | | name |
| 126767983 | CV1033123 | single nucleotide variant | NM_005148.4(UNC119):c.7G>C (p.Val3Leu) | not provided [RCV001343073] | uncertain significance | 17 | 28552551 | 28552551 | Human | | name |
| 127315413 | CV1126036 | single nucleotide variant | NM_005148.4(UNC119):c.54G>A (p.Pro18=) | not provided [RCV001465205] | likely benign | 17 | 28552504 | 28552504 | Human | | name |
| 127333750 | CV1146937 | single nucleotide variant | NM_005148.4(UNC119):c.63G>C (p.Ser21=) | not provided [RCV001490362] | likely benign | 17 | 28552495 | 28552495 | Human | | name |
| 151811183 | CV1350419 | single nucleotide variant | NM_005148.4(UNC119):c.1A>G (p.Met1Val) | not provided [RCV002048869] | uncertain significance | 17 | 28552557 | 28552557 | Human | | name |
| 151874466 | CV1470410 | single nucleotide variant | NM_005148.4(UNC119):c.63G>A (p.Ser21=) | not provided [RCV001885681] | likely benign|uncertain significance | 17 | 28552495 | 28552495 | Human | | name |
| 152129387 | CV1549265 | single nucleotide variant | NM_005148.4(UNC119):c.57G>A (p.Gly19=) | not provided [RCV002099278] | likely benign | 17 | 28552501 | 28552501 | Human | | name |
| 597973633 | CV3820620 | single nucleotide variant | NM_005148.4(UNC119):c.75G>A (p.Val25=) | not provided [RCV005168137] | likely benign | 17 | 28552483 | 28552483 | Human | | name |
| 28895981 | CV877091 | single nucleotide variant | NM_005148.4(UNC119):c.39G>A (p.Ala13=) | Cone-rod dystrophy [RCV001122666]|not provided [RCV002070003] | likely benign|uncertain significance | 17 | 28552519 | 28552519 | Human | 3 | name |
| 127274331 | CV1082817 | single nucleotide variant | NM_005148.4(UNC119):c.264T>C (p.Phe88=) | not provided [RCV001406286] | likely benign | 17 | 28548662 | 28548662 | Human | | name |
| 127281742 | CV1082818 | single nucleotide variant | NM_005148.4(UNC119):c.228C>G (p.Leu76=) | not provided [RCV001410667] | likely benign | 17 | 28548698 | 28548698 | Human | | name |
| 127233399 | CV1082819 | single nucleotide variant | NM_005148.4(UNC119):c.117C>G (p.Ser39=) | not provided [RCV001396098] | likely benign | 17 | 28552441 | 28552441 | Human | | name |
| 151854156 | CV1485374 | single nucleotide variant | NM_005148.4(UNC119):c.22G>A (p.Gly8Ser) | not provided [RCV002033561] | uncertain significance | 17 | 28552536 | 28552536 | Human | | name |
| 152108640 | CV1530001 | single nucleotide variant | NM_005148.4(UNC119):c.195G>A (p.Val65=) | not provided [RCV002196482] | likely benign | 17 | 28552363 | 28552363 | Human | | name |
| 152126902 | CV1544887 | single nucleotide variant | NM_005148.4(UNC119):c.231C>T (p.Cys77=) | See cases [RCV002252761]|not provided [RCV002154997] | likely benign|uncertain significance | 17 | 28548695 | 28548695 | Human | | name |
| 152111675 | CV1550370 | single nucleotide variant | NM_005148.4(UNC119):c.234C>G (p.Ser78=) | not provided [RCV002153134] | likely benign | 17 | 28548692 | 28548692 | Human | | name |
| 152162382 | CV1606307 | single nucleotide variant | NM_005148.4(UNC119):c.159G>A (p.Pro53=) | not provided [RCV002181151] | likely benign | 17 | 28552399 | 28552399 | Human | | name |
| 156229443 | CV2093729 | single nucleotide variant | NM_005148.4(UNC119):c.105C>G (p.Ser35=) | not provided [RCV002894495] | likely benign | 17 | 28552453 | 28552453 | Human | | name |
| 405233257 | CV2965472 | single nucleotide variant | NM_005148.4(UNC119):c.186G>C (p.Pro62=) | not provided [RCV003682605] | likely benign | 17 | 28552372 | 28552372 | Human | | name |
| 405017159 | CV3124881 | single nucleotide variant | NM_005148.4(UNC119):c.195G>C (p.Val65=) | not provided [RCV003829506] | likely benign | 17 | 28552363 | 28552363 | Human | | name |
| 405291853 | CV3207693 | single nucleotide variant | NM_005148.4(UNC119):c.258C>T (p.Ile86=) | UNC119-related disorder [RCV003929387] | likely benign | 17 | 28548668 | 28548668 | Human | | name , trait , alternate_id |
| 11614052 | CV337712 | single nucleotide variant | NM_005148.4(UNC119):c.267C>G (p.Val89=) | Cone-rod dystrophy [RCV000274107]|not provided [RCV000959376]|not specified [RCV001699313] | benign|likely benign | 17 | 28548659 | 28548659 | Human | 3 | name |
| 11631771 | CV345385 | single nucleotide variant | NM_005148.4(UNC119):c.234C>T (p.Ser78=) | Cone-rod dystrophy [RCV000388299]|not provided [RCV000914279] | benign|likely benign | 17 | 28548692 | 28548692 | Human | 3 | name |
| 8642175 | CV101159 | single nucleotide variant | NM_005148.4(UNC119):c.600C>T (p.Ser200=) | not provided [RCV000081273] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 28547687 | 28547687 | Human | | name |
| 127265235 | CV1082816 | single nucleotide variant | NM_005148.4(UNC119):c.450A>G (p.Thr150=) | not provided [RCV001403521] | likely benign | 17 | 28547837 | 28547837 | Human | | name |
| 127239560 | CV1104614 | single nucleotide variant | NM_005148.4(UNC119):c.582C>T (p.Tyr194=) | not provided [RCV001423144] | likely benign | 17 | 28547705 | 28547705 | Human | | name |
| 127337502 | CV1126032 | single nucleotide variant | NM_005148.4(UNC119):c.504C>T (p.Arg168=) | not provided [RCV001475709] | likely benign | 17 | 28547783 | 28547783 | Human | | name |
| 127309394 | CV1126035 | single nucleotide variant | NM_005148.4(UNC119):c.315C>T (p.Ile105=) | not provided [RCV001456289] | likely benign | 17 | 28548611 | 28548611 | Human | | name |
| 127316680 | CV1146935 | single nucleotide variant | NM_005148.4(UNC119):c.402G>A (p.Thr134=) | not provided [RCV001503083] | likely benign | 17 | 28548034 | 28548034 | Human | | name |
| 127321385 | CV1146936 | single nucleotide variant | NM_005148.4(UNC119):c.340T>C (p.Leu114=) | not provided [RCV001504741]|not specified [RCV004681214] | likely benign | 17 | 28548096 | 28548096 | Human | | name |
| 151794846 | CV1338422 | single nucleotide variant | NM_005148.4(UNC119):c.28G>T (p.Ala10Ser) | not provided [RCV001898521]|not specified [RCV004681297] | uncertain significance | 17 | 28552530 | 28552530 | Human | | name |
| 151737111 | CV1361929 | single nucleotide variant | NM_005148.4(UNC119):c.615C>T (p.Ser205=) | not provided [RCV001967752] | likely benign|uncertain significance | 17 | 28547405 | 28547405 | Human | | name |
| 151843729 | CV1499881 | single nucleotide variant | NM_005148.4(UNC119):c.80C>T (p.Pro27Leu) | not provided [RCV001921847] | uncertain significance | 17 | 28552478 | 28552478 | Human | | name |
| 152162190 | CV1534972 | single nucleotide variant | NM_005148.4(UNC119):c.711C>T (p.Ser237=) | not provided [RCV002141109] | likely benign | 17 | 28547309 | 28547309 | Human | | name |
| 152066758 | CV1578971 | single nucleotide variant | NM_005148.4(UNC119):c.549C>T (p.Ile183=) | not provided [RCV002074555] | likely benign | 17 | 28547738 | 28547738 | Human | | name |
| 152079236 | CV1620529 | single nucleotide variant | NM_005148.4(UNC119):c.306C>T (p.Leu102=) | not provided [RCV002112524] | likely benign | 17 | 28548620 | 28548620 | Human | | name |
| 152034470 | CV1621584 | single nucleotide variant | NM_005148.4(UNC119):c.525C>T (p.Phe175=) | not provided [RCV002205353] | likely benign | 17 | 28547762 | 28547762 | Human | | name |
| 152069308 | CV1640154 | single nucleotide variant | NM_005148.4(UNC119):c.633G>A (p.Pro211=) | not provided [RCV002147857] | likely benign | 17 | 28547387 | 28547387 | Human | | name |
| 156373129 | CV1953453 | single nucleotide variant | NM_005148.4(UNC119):c.79C>T (p.Pro27Ser) | not provided [RCV002582584] | uncertain significance | 17 | 28552479 | 28552479 | Human | | name |
| 156356036 | CV2001468 | single nucleotide variant | NM_005148.4(UNC119):c.675G>T (p.Arg225=) | not provided [RCV002675929] | likely benign | 17 | 28547345 | 28547345 | Human | | name |
| 156393732 | CV2002527 | single nucleotide variant | NM_005148.4(UNC119):c.486C>T (p.Ile162=) | not provided [RCV002681023] | likely benign | 17 | 28547801 | 28547801 | Human | | name |
| 155954719 | CV2014222 | single nucleotide variant | NM_005148.4(UNC119):c.588C>T (p.Phe196=) | not provided [RCV002686204] | likely benign | 17 | 28547699 | 28547699 | Human | | name |
| 156244759 | CV2053272 | single nucleotide variant | NM_005148.4(UNC119):c.363G>A (p.Leu121=) | not provided [RCV002791480] | likely benign | 17 | 28548073 | 28548073 | Human | | name |
| 155934041 | CV2064277 | single nucleotide variant | NM_005148.4(UNC119):c.516C>T (p.Leu172=) | not provided [RCV002861309] | likely benign | 17 | 28547771 | 28547771 | Human | | name |
| 155942484 | CV2068341 | single nucleotide variant | NM_005148.4(UNC119):c.418C>T (p.Leu140=) | not provided [RCV002839506] | likely benign | 17 | 28548018 | 28548018 | Human | | name |
| 156026806 | CV2100444 | single nucleotide variant | NM_005148.4(UNC119):c.414C>T (p.Leu138=) | not provided [RCV002885217] | likely benign | 17 | 28548022 | 28548022 | Human | | name |
| 155926259 | CV2145103 | single nucleotide variant | NM_005148.4(UNC119):c.591C>A (p.Pro197=) | not provided [RCV003013420] | likely benign | 17 | 28547696 | 28547696 | Human | | name |
| 156227105 | CV2164760 | single nucleotide variant | NM_005148.4(UNC119):c.576C>T (p.His192=) | not provided [RCV003042945] | likely benign | 17 | 28547711 | 28547711 | Human | | name |
| 156345278 | CV2176314 | single nucleotide variant | NM_005148.4(UNC119):c.624C>T (p.Ile208=) | not provided [RCV003030524] | likely benign | 17 | 28547396 | 28547396 | Human | | name |
| 405157307 | CV2960983 | single nucleotide variant | NM_005148.4(UNC119):c.372T>C (p.Asn124=) | not provided [RCV003670478] | likely benign | 17 | 28548064 | 28548064 | Human | | name |
| 405141114 | CV3125870 | single nucleotide variant | NM_005148.4(UNC119):c.49G>A (p.Ala17Thr) | not provided [RCV003816785] | uncertain significance | 17 | 28552509 | 28552509 | Human | | name |
| 405244172 | CV3161212 | single nucleotide variant | NM_005148.4(UNC119):c.53C>T (p.Pro18Leu) | not provided [RCV003868121] | uncertain significance | 17 | 28552505 | 28552505 | Human | | name |
| 11620617 | CV327883 | single nucleotide variant | NM_005148.4(UNC119):c.663C>T (p.Phe221=) | Cone-rod dystrophy [RCV000339147]|not provided [RCV000890164] | benign|likely benign | 17 | 28547357 | 28547357 | Human | 3 | name |
| 11623105 | CV327889 | single nucleotide variant | NM_005148.4(UNC119):c.321G>A (p.Lys107=) | Cone-rod dystrophy [RCV000368696]|not provided [RCV003765873] | likely benign|uncertain significance | 17 | 28548605 | 28548605 | Human | 3 | name |
| 11631358 | CV345392 | single nucleotide variant | NM_005148.4(UNC119):c.47C>T (p.Ser16Phe) | Cone-rod dystrophy [RCV000375940]|not provided [RCV001303184] | uncertain significance | 17 | 28552511 | 28552511 | Human | 3 | name |
| 597832427 | CV3830981 | single nucleotide variant | NM_005148.4(UNC119):c.76G>A (p.Ala26Thr) | not provided [RCV005170378] | uncertain significance | 17 | 28552482 | 28552482 | Human | | name |
| 598274499 | CV3925524 | single nucleotide variant | NM_005148.4(UNC119):c.77C>G (p.Ala26Gly) | not specified [RCV005303961] | uncertain significance | 17 | 28552481 | 28552481 | Human | | name |
| 15162487 | CV755722 | single nucleotide variant | NM_005148.4(UNC119):c.714G>A (p.Gly238=) | not provided [RCV000925900] | likely benign | 17 | 28547306 | 28547306 | Human | | name |
| 15161336 | CV755723 | single nucleotide variant | NM_005148.4(UNC119):c.645G>A (p.Gln215=) | not provided [RCV000925664] | likely benign | 17 | 28547375 | 28547375 | Human | | name |
| 15099283 | CV755724 | single nucleotide variant | NM_005148.4(UNC119):c.573G>A (p.Glu191=) | not provided [RCV000914428] | likely benign | 17 | 28547714 | 28547714 | Human | | name |
| 26919598 | CV844834 | deletion | NM_005148.4(UNC119):c.242del (p.Glu81fs) | not provided [RCV001045945] | uncertain significance | 17 | 28548684 | 28548684 | Human | | name |
| 26912805 | CV844836 | single nucleotide variant | NM_005148.4(UNC119):c.95C>A (p.Pro32His) | not provided [RCV001034757] | uncertain significance | 17 | 28552463 | 28552463 | Human | | name |
| 8573642 | CV94314 | single nucleotide variant | NM_005148.4(UNC119):c.65G>T (p.Gly22Val) | Cone-rod dystrophy [RCV000316267]|Idiopathic CD4 lymphocytopenia [RCV000074396]|not provided [RCV001512299]|not specified [RCV000250269] | pathogenic|benign|likely benign|conflicting interpretations of pathogenicity | 17 | 28552493 | 28552493 | Human | 5 | name |
| 126766770 | CV997392 | single nucleotide variant | NM_005148.4(UNC119):c.38C>T (p.Ala13Val) | not provided [RCV001302024] | uncertain significance | 17 | 28552520 | 28552520 | Human | | name |
| 126922081 | CV1050113 | single nucleotide variant | NM_005148.4(UNC119):c.243G>T (p.Glu81Asp) | not provided [RCV001364247] | uncertain significance | 17 | 28548683 | 28548683 | Human | | name |
| 151872861 | CV1351800 | single nucleotide variant | NM_005148.4(UNC119):c.199G>T (p.Gly67Trp) | not provided [RCV001998575] | uncertain significance | 17 | 28552359 | 28552359 | Human | | name |
| 151812947 | CV1355560 | single nucleotide variant | NM_005148.4(UNC119):c.281G>C (p.Arg94Pro) | not provided [RCV002012623] | uncertain significance | 17 | 28548645 | 28548645 | Human | | name |
| 151876277 | CV1360192 | single nucleotide variant | NM_005148.4(UNC119):c.167G>A (p.Arg56Lys) | not provided [RCV001907103] | uncertain significance | 17 | 28552391 | 28552391 | Human | | name |
| 151890284 | CV1394796 | single nucleotide variant | NM_005148.4(UNC119):c.230G>A (p.Cys77Tyr) | not provided [RCV001888374] | uncertain significance | 17 | 28548696 | 28548696 | Human | | name |
| 151711278 | CV1395002 | single nucleotide variant | NM_005148.4(UNC119):c.179T>C (p.Ile60Thr) | not provided [RCV001964348] | uncertain significance | 17 | 28552379 | 28552379 | Human | | name |
| 151874113 | CV1470345 | single nucleotide variant | NM_005148.4(UNC119):c.226C>T (p.Leu76Phe) | not provided [RCV001885644] | uncertain significance | 17 | 28548700 | 28548700 | Human | | name |
| 151760112 | CV1497112 | single nucleotide variant | NM_005148.4(UNC119):c.281G>T (p.Arg94Leu) | not provided [RCV001987161] | uncertain significance | 17 | 28548645 | 28548645 | Human | | name |
| 151870529 | CV1515632 | single nucleotide variant | NM_005148.4(UNC119):c.126G>C (p.Glu42Asp) | UNC119-related disorder [RCV003978453]|not provided [RCV001981239] | uncertain significance | 17 | 28552432 | 28552432 | Human | 1 | name , trait , alternate_id |
| 155718527 | CV1775524 | single nucleotide variant | NM_005148.4(UNC119):c.293C>T (p.Ser98Leu) | not provided [RCV002301183] | uncertain significance | 17 | 28548633 | 28548633 | Human | | name |
| 156127398 | CV2031350 | single nucleotide variant | NM_005148.4(UNC119):c.104C>A (p.Ser35Tyr) | not provided [RCV002740434] | uncertain significance | 17 | 28552454 | 28552454 | Human | | name |
| 8558992 | CV20921 | single nucleotide variant | NM_005148.4(UNC119):c.169A>T (p.Lys57Ter) | Cone-rod dystrophy 24 [RCV003223390]|not provided [RCV001241145] | pathogenic|uncertain significance | 17 | 28552389 | 28552389 | Human | 1 | name |
| 156177999 | CV2144901 | single nucleotide variant | NM_005148.4(UNC119):c.254A>C (p.Lys85Thr) | not provided [RCV003005616] | uncertain significance | 17 | 28548672 | 28548672 | Human | | name |
| 156308360 | CV2163797 | single nucleotide variant | NM_005148.4(UNC119):c.106G>A (p.Glu36Lys) | not provided [RCV003045893] | uncertain significance | 17 | 28552452 | 28552452 | Human | | name |
| 156196636 | CV2171586 | single nucleotide variant | NM_005148.4(UNC119):c.232T>C (p.Ser78Pro) | not provided [RCV003024310] | uncertain significance | 17 | 28548694 | 28548694 | Human | | name |
| 156046419 | CV2304269 | single nucleotide variant | NM_005148.4(UNC119):c.208C>T (p.Arg70Trp) | not provided [RCV003777934]|not specified [RCV004164393] | uncertain significance | 17 | 28552350 | 28552350 | Human | | name |
| 11656485 | CV343935 | single nucleotide variant | NM_005148.4(UNC119):c.262T>C (p.Phe88Leu) | Cone-rod dystrophy [RCV000333782] | uncertain significance | 17 | 28548664 | 28548664 | Human | 3 | name |
| 597930736 | CV3827003 | single nucleotide variant | NM_005148.4(UNC119):c.286A>G (p.Met96Val) | not provided [RCV005157016] | uncertain significance | 17 | 28548640 | 28548640 | Human | | name |
| 597971318 | CV3832983 | single nucleotide variant | NM_005148.4(UNC119):c.187G>T (p.Glu63Ter) | not provided [RCV005166880] | uncertain significance | 17 | 28552371 | 28552371 | Human | | name |
| 598274497 | CV3925523 | single nucleotide variant | NM_005148.4(UNC119):c.233C>A (p.Ser78Tyr) | not specified [RCV005303960] | uncertain significance | 17 | 28548693 | 28548693 | Human | | name |
| 26921818 | CV844835 | single nucleotide variant | NM_005148.4(UNC119):c.115T>G (p.Ser39Ala) | not provided [RCV001050804] | uncertain significance | 17 | 28552443 | 28552443 | Human | | name |
| 28908832 | CV877090 | single nucleotide variant | NM_005148.4(UNC119):c.281G>A (p.Arg94Gln) | Cone-rod dystrophy [RCV001128387]|UNC119-related disorder [RCV004746249]|not provided [RCV001309225]|not specified [RCV004032277] | benign|likely benign|uncertain significance | 17 | 28548645 | 28548645 | Human | 4 | name , trait , alternate_id |
| 38483627 | CV949750 | single nucleotide variant | NM_005148.4(UNC119):c.164A>G (p.Gln55Arg) | not provided [RCV001236000] | uncertain significance | 17 | 28552394 | 28552394 | Human | | name |
| 38492635 | CV958014 | single nucleotide variant | NM_005148.4(UNC119):c.280C>T (p.Arg94Trp) | not provided [RCV001240196]|not specified [RCV004034641] | uncertain significance | 17 | 28548646 | 28548646 | Human | | name |
| 38491640 | CV958015 | single nucleotide variant | NM_005148.4(UNC119):c.259G>A (p.Asp87Asn) | not provided [RCV001239577] | uncertain significance | 17 | 28548667 | 28548667 | Human | | name |
| 38499620 | CV958016 | single nucleotide variant | NM_005148.4(UNC119):c.217G>A (p.Gly73Ser) | not provided [RCV001244868]|not specified [RCV004034804] | uncertain significance | 17 | 28552341 | 28552341 | Human | | name |
| 126775058 | CV1033118 | single nucleotide variant | NM_005148.4(UNC119):c.712G>A (p.Gly238Arg) | not provided [RCV001347943] | uncertain significance | 17 | 28547308 | 28547308 | Human | | name |
| 126769169 | CV1033119 | single nucleotide variant | NM_005148.4(UNC119):c.586T>A (p.Phe196Ile) | not provided [RCV001343778] | uncertain significance | 17 | 28547701 | 28547701 | Human | | name |
| 126766970 | CV1033120 | single nucleotide variant | NM_005148.4(UNC119):c.486C>G (p.Ile162Met) | not provided [RCV001342633] | uncertain significance | 17 | 28547801 | 28547801 | Human | | name |
| 126758581 | CV1033121 | single nucleotide variant | NM_005148.4(UNC119):c.415C>A (p.Arg139Ser) | not provided [RCV001339888] | uncertain significance | 17 | 28548021 | 28548021 | Human | | name |
| 126772493 | CV1033122 | single nucleotide variant | NM_005148.4(UNC119):c.401C>T (p.Thr134Met) | not provided [RCV001345646]|not specified [RCV004036464] | uncertain significance | 17 | 28548035 | 28548035 | Human | | name |
| 126908580 | CV1050110 | single nucleotide variant | NM_005148.4(UNC119):c.506A>G (p.Asn169Ser) | not provided [RCV001368016]|not specified [RCV004037030] | uncertain significance | 17 | 28547781 | 28547781 | Human | | name |
| 126923913 | CV1050111 | single nucleotide variant | NM_005148.4(UNC119):c.358G>T (p.Asp120Tyr) | not provided [RCV001366401] | uncertain significance | 17 | 28548078 | 28548078 | Human | | name |
| 126917794 | CV1050112 | single nucleotide variant | NM_005148.4(UNC119):c.352C>T (p.Arg118Trp) | not provided [RCV001361368] | uncertain significance | 17 | 28548084 | 28548084 | Human | | name |
| 151881350 | CV1339586 | single nucleotide variant | NM_005148.4(UNC119):c.592C>T (p.Pro198Ser) | not provided [RCV001999623] | uncertain significance | 17 | 28547695 | 28547695 | Human | | name |
| 151857128 | CV1347975 | single nucleotide variant | NM_005148.4(UNC119):c.479G>A (p.Arg160His) | not provided [RCV001979664] | uncertain significance | 17 | 28547808 | 28547808 | Human | | name |
| 151889875 | CV1350364 | single nucleotide variant | NM_005148.4(UNC119):c.459C>A (p.Asp153Glu) | not provided [RCV002038689] | uncertain significance | 17 | 28547828 | 28547828 | Human | | name |
| 151766294 | CV1359097 | single nucleotide variant | NM_005148.4(UNC119):c.415C>T (p.Arg139Cys) | not provided [RCV001970731] | uncertain significance | 17 | 28548021 | 28548021 | Human | | name |
| 151804446 | CV1362874 | single nucleotide variant | NM_005148.4(UNC119):c.601G>A (p.Glu201Lys) | not provided [RCV002028394] | uncertain significance | 17 | 28547686 | 28547686 | Human | | name |
| 151859726 | CV1373943 | single nucleotide variant | NM_005148.4(UNC119):c.571G>C (p.Glu191Gln) | not provided [RCV001938385] | uncertain significance | 17 | 28547716 | 28547716 | Human | | name |
| 151864675 | CV1374711 | single nucleotide variant | NM_005148.4(UNC119):c.469A>C (p.Asn157His) | not provided [RCV001884389] | uncertain significance | 17 | 28547818 | 28547818 | Human | | name |
| 151846106 | CV1390188 | single nucleotide variant | NM_005148.4(UNC119):c.592C>G (p.Pro198Ala) | not provided [RCV001881958] | uncertain significance | 17 | 28547695 | 28547695 | Human | | name |
| 151767588 | CV1393993 | single nucleotide variant | NM_005148.4(UNC119):c.452T>C (p.Val151Ala) | not provided [RCV002008534] | uncertain significance | 17 | 28547835 | 28547835 | Human | | name |
| 151834907 | CV1394312 | single nucleotide variant | NM_005148.4(UNC119):c.409T>C (p.Phe137Leu) | not provided [RCV002051100] | uncertain significance | 17 | 28548027 | 28548027 | Human | | name |
| 151822404 | CV1418823 | single nucleotide variant | NM_005148.4(UNC119):c.437C>T (p.Thr146Met) | not provided [RCV001954889] | uncertain significance | 17 | 28547999 | 28547999 | Human | | name |
| 151800681 | CV1439041 | single nucleotide variant | NM_005148.4(UNC119):c.487G>T (p.Glu163Ter) | not provided [RCV001990922] | uncertain significance | 17 | 28547800 | 28547800 | Human | | name |
| 151852419 | CV1458988 | single nucleotide variant | NM_005148.4(UNC119):c.370A>G (p.Asn124Asp) | not provided [RCV002016768] | uncertain significance | 17 | 28548066 | 28548066 | Human | | name |
| 151796256 | CV1471234 | single nucleotide variant | NM_005148.4(UNC119):c.711C>G (p.Ser237Arg) | not provided [RCV001952506] | uncertain significance | 17 | 28547309 | 28547309 | Human | | name |
| 151835718 | CV1472710 | single nucleotide variant | NM_005148.4(UNC119):c.481A>G (p.Met161Val) | not provided [RCV002051181] | uncertain significance | 17 | 28547806 | 28547806 | Human | | name |
| 151861806 | CV1474091 | single nucleotide variant | NM_005148.4(UNC119):c.503G>T (p.Arg168Leu) | not provided [RCV001884013] | uncertain significance | 17 | 28547784 | 28547784 | Human | | name |
| 151855103 | CV1478606 | single nucleotide variant | NM_005148.4(UNC119):c.632C>T (p.Pro211Leu) | not provided [RCV002017077]|not specified [RCV004046740] | uncertain significance | 17 | 28547388 | 28547388 | Human | | name |
| 151745338 | CV1485048 | single nucleotide variant | NM_005148.4(UNC119):c.439G>C (p.Val147Leu) | not provided [RCV002006247] | uncertain significance | 17 | 28547848 | 28547848 | Human | | name |
| 151721504 | CV1489498 | single nucleotide variant | NM_005148.4(UNC119):c.571G>A (p.Glu191Lys) | not provided [RCV001891174] | uncertain significance | 17 | 28547716 | 28547716 | Human | | name |
| 151811161 | CV1506671 | single nucleotide variant | NM_005148.4(UNC119):c.680T>G (p.Val227Gly) | not provided [RCV001918624] | uncertain significance | 17 | 28547340 | 28547340 | Human | | name |
| 151843927 | CV1511019 | single nucleotide variant | NM_005148.4(UNC119):c.386T>C (p.Val129Ala) | not provided [RCV001957093] | uncertain significance | 17 | 28548050 | 28548050 | Human | | name |
| 152043787 | CV1669001 | single nucleotide variant | NM_005148.4(UNC119):c.601G>T (p.Glu201Ter) | Cone-rod dystrophy 24 [RCV003223752]|Macular dystrophy [RCV002223344] | pathogenic|likely pathogenic | 17 | 28547686 | 28547686 | Human | 3 | name |
| 155677265 | CV1771853 | single nucleotide variant | NM_005148.4(UNC119):c.479G>T (p.Arg160Leu) | not provided [RCV002297870] | uncertain significance | 17 | 28547808 | 28547808 | Human | | name |
| 156409567 | CV1961849 | single nucleotide variant | NM_005148.4(UNC119):c.439G>A (p.Val147Met) | not provided [RCV002586860] | uncertain significance | 17 | 28547848 | 28547848 | Human | | name |
| 156403037 | CV1988893 | single nucleotide variant | NM_005148.4(UNC119):c.564C>G (p.Asn188Lys) | not provided [RCV002605822] | uncertain significance | 17 | 28547723 | 28547723 | Human | | name |
| 156237637 | CV1999660 | single nucleotide variant | NM_005148.4(UNC119):c.694G>A (p.Ala232Thr) | not provided [RCV002667815] | uncertain significance | 17 | 28547326 | 28547326 | Human | | name |
| 156287986 | CV2001847 | single nucleotide variant | NM_005148.4(UNC119):c.718C>T (p.Pro240Ser) | not provided [RCV002647082] | uncertain significance | 17 | 28547302 | 28547302 | Human | | name |
| 156089684 | CV2017523 | single nucleotide variant | NM_005148.4(UNC119):c.616G>A (p.Glu206Lys) | not provided [RCV002694898]|not specified [RCV004681531] | uncertain significance | 17 | 28547404 | 28547404 | Human | | name |
| 155936492 | CV2058045 | single nucleotide variant | NM_005148.4(UNC119):c.325C>T (p.Pro109Ser) | not provided [RCV002815408] | uncertain significance | 17 | 28548601 | 28548601 | Human | | name |
| 156152918 | CV2070507 | single nucleotide variant | NM_005148.4(UNC119):c.551C>A (p.Pro184His) | not provided [RCV002850930] | uncertain significance | 17 | 28547736 | 28547736 | Human | | name |
| 156300277 | CV2075867 | duplication | NM_005148.4(UNC119):c.89_92dup (p.Pro32fs) | not provided [RCV002857135] | uncertain significance | 17 | 28552465 | 28552466 | Human | | name |
| 156257755 | CV2142286 | single nucleotide variant | NM_005148.4(UNC119):c.631C>A (p.Pro211Thr) | not provided [RCV002988361] | uncertain significance | 17 | 28547389 | 28547389 | Human | | name |
| 156185650 | CV2239479 | single nucleotide variant | NM_005148.4(UNC119):c.589C>G (p.Pro197Ala) | not specified [RCV004114193] | uncertain significance | 17 | 28547698 | 28547698 | Human | | name |
| 156051384 | CV2323342 | single nucleotide variant | NM_005148.4(UNC119):c.593C>A (p.Pro198His) | not specified [RCV004171750] | uncertain significance | 17 | 28547694 | 28547694 | Human | | name |
| 11643282 | CV271009 | single nucleotide variant | NM_005148.4(UNC119):c.379C>T (p.Arg127Cys) | not provided [RCV000391018] | uncertain significance | 17 | 28548057 | 28548057 | Human | | name |
| 401892239 | CV2777353 | single nucleotide variant | NM_005148.4(UNC119):c.673C>T (p.Arg225Trp) | not provided [RCV003443210]|not specified [RCV004354364] | uncertain significance | 17 | 28547347 | 28547347 | Human | | name |
| 405096269 | CV2944122 | single nucleotide variant | NM_005148.4(UNC119):c.559A>G (p.Lys187Glu) | not provided [RCV003665672] | uncertain significance | 17 | 28547728 | 28547728 | Human | | name |
| 405155459 | CV2950825 | single nucleotide variant | NM_005148.4(UNC119):c.713G>A (p.Gly238Glu) | not provided [RCV003670341] | uncertain significance | 17 | 28547307 | 28547307 | Human | | name |
| 402495368 | CV3005697 | single nucleotide variant | NM_005148.4(UNC119):c.384T>A (p.Phe128Leu) | not provided [RCV003687959] | uncertain significance | 17 | 28548052 | 28548052 | Human | | name |
| 405217139 | CV3124804 | single nucleotide variant | NM_005148.4(UNC119):c.695C>T (p.Ala232Val) | not provided [RCV003824167] | uncertain significance | 17 | 28547325 | 28547325 | Human | | name |
| 402521080 | CV3126852 | single nucleotide variant | NM_005148.4(UNC119):c.338G>A (p.Arg113Gln) | not provided [RCV003824770] | uncertain significance | 17 | 28548098 | 28548098 | Human | | name |
| 404979942 | CV3127895 | single nucleotide variant | NM_005148.4(UNC119):c.584A>T (p.Asp195Val) | not provided [RCV003825927] | uncertain significance | 17 | 28547703 | 28547703 | Human | | name |
| 405178068 | CV3151057 | single nucleotide variant | NM_005148.4(UNC119):c.655T>G (p.Phe219Val) | not provided [RCV003842141]|not specified [RCV004366965] | uncertain significance | 17 | 28547365 | 28547365 | Human | | name |
| 405691922 | CV3227611 | single nucleotide variant | NM_005148.4(UNC119):c.721T>C (p.Ter241Arg) | Cone-rod dystrophy 24 [RCV003991957] | uncertain significance | 17 | 28547299 | 28547299 | Human | 1 | name |
| 405805700 | CV3348322 | single nucleotide variant | NM_005148.4(UNC119):c.483G>T (p.Met161Ile) | not specified [RCV004479843] | uncertain significance | 17 | 28547804 | 28547804 | Human | | name |
| 405805704 | CV3348324 | single nucleotide variant | NM_005148.4(UNC119):c.596T>A (p.Leu199His) | not specified [RCV004479845] | uncertain significance | 17 | 28547691 | 28547691 | Human | | name |
| 11617391 | CV337710 | single nucleotide variant | NM_005148.4(UNC119):c.526G>A (p.Asp176Asn) | Cone-rod dystrophy [RCV000304132]|not provided [RCV005090483]|not specified [RCV004021695] | uncertain significance | 17 | 28547761 | 28547761 | Human | 3 | name |
| 407488286 | CV3415098 | single nucleotide variant | NM_005148.4(UNC119):c.395A>C (p.Gln132Pro) | not specified [RCV004597434] | uncertain significance | 17 | 28548041 | 28548041 | Human | | name |
| 11622725 | CV343934 | single nucleotide variant | NM_005148.4(UNC119):c.509A>G (p.Gln170Arg) | Cone-rod dystrophy [RCV000363510]|not provided [RCV001368215]|not specified [RCV004021696] | likely benign|uncertain significance | 17 | 28547778 | 28547778 | Human | 3 | name |
| 11632462 | CV345375 | single nucleotide variant | NM_005148.4(UNC119):c.626G>A (p.Arg209His) | Cone-rod dystrophy [RCV000407872]|UNC119-related disorder [RCV003897735]|not provided [RCV001244220] | uncertain significance | 17 | 28547394 | 28547394 | Human | 4 | name , trait , alternate_id |
| 11626942 | CV345378 | single nucleotide variant | NM_005148.4(UNC119):c.502C>T (p.Arg168Cys) | Cone-rod dystrophy [RCV000273021]|Idiopathic CD4 lymphocytopenia [RCV000768362]|UNC119-related disorder [RCV003401338]|not provided [RCV001070880] | benign|likely benign|uncertain significance | 17 | 28547785 | 28547785 | Human | 5 | name , trait , alternate_id |
| 597790295 | CV3632724 | single nucleotide variant | NM_005148.4(UNC119):c.572A>C (p.Glu191Ala) | not specified [RCV004876313] | uncertain significance | 17 | 28547715 | 28547715 | Human | | name |
| 597920535 | CV3738091 | single nucleotide variant | NM_005148.4(UNC119):c.521G>C (p.Ser174Thr) | not provided [RCV005074690] | uncertain significance | 17 | 28547766 | 28547766 | Human | | name |
| 597914449 | CV3851108 | single nucleotide variant | NM_005148.4(UNC119):c.716C>T (p.Thr239Ile) | not provided [RCV005204076] | uncertain significance | 17 | 28547304 | 28547304 | Human | | name |
| 597898684 | CV3854578 | single nucleotide variant | NM_005148.4(UNC119):c.574C>G (p.His192Asp) | not provided [RCV005201685] | uncertain significance | 17 | 28547713 | 28547713 | Human | | name |
| 598274500 | CV3925525 | single nucleotide variant | NM_005148.4(UNC119):c.659A>C (p.Tyr220Ser) | not specified [RCV005303962] | uncertain significance | 17 | 28547361 | 28547361 | Human | | name |
| 14699064 | CV624621 | single nucleotide variant | NM_005148.4(UNC119):c.388C>T (p.Arg130Cys) | UNC119-related disorder [RCV003413583]|not provided [RCV000788263] | uncertain significance | 17 | 28548048 | 28548048 | Human | 1 | name , trait , alternate_id |
| 26884672 | CV844830 | single nucleotide variant | NM_005148.4(UNC119):c.419T>G (p.Leu140Arg) | Cone-rod dystrophy [RCV001128385]|not provided [RCV001052351]|not specified [RCV004031638] | uncertain significance | 17 | 28548017 | 28548017 | Human | 3 | name |
| 26887200 | CV844831 | single nucleotide variant | NM_005148.4(UNC119):c.416G>A (p.Arg139His) | not provided [RCV001055976] | uncertain significance | 17 | 28548020 | 28548020 | Human | | name |
| 26901932 | CV844832 | single nucleotide variant | NM_005148.4(UNC119):c.371A>G (p.Asn124Ser) | not provided [RCV001068948]|not specified [RCV004030692] | uncertain significance | 17 | 28548065 | 28548065 | Human | | name |
| 26916855 | CV844833 | single nucleotide variant | NM_005148.4(UNC119):c.356G>A (p.Arg119Gln) | Cone-rod dystrophy [RCV001128386]|not provided [RCV001041000] | benign|likely benign|uncertain significance | 17 | 28548080 | 28548080 | Human | 3 | name |
| 28905078 | CV877088 | single nucleotide variant | NM_005148.4(UNC119):c.689A>G (p.Asn230Ser) | Cone-rod dystrophy [RCV001126341] | uncertain significance | 17 | 28547331 | 28547331 | Human | 3 | name |
| 28905081 | CV877089 | single nucleotide variant | NM_005148.4(UNC119):c.586T>C (p.Phe196Leu) | Cone-rod dystrophy [RCV001126342]|not provided [RCV001315674] | likely benign|uncertain significance | 17 | 28547701 | 28547701 | Human | 3 | name |
| 38487144 | CV937755 | single nucleotide variant | NM_005148.4(UNC119):c.355C>T (p.Arg119Trp) | not provided [RCV001209191]|not specified [RCV004033761] | uncertain significance | 17 | 28548081 | 28548081 | Human | | name |
| 38486129 | CV937756 | single nucleotide variant | NM_005148.4(UNC119):c.337C>T (p.Arg113Trp) | not provided [RCV001208759]|not specified [RCV005298724] | uncertain significance | 17 | 28548099 | 28548099 | Human | | name |
| 38477288 | CV937757 | microsatellite | NM_005148.4(UNC119):c.10AAG[1] (p.Lys5del) | not provided [RCV001205022] | uncertain significance | 17 | 28552543 | 28552545 | Human | | name |
| 38461240 | CV949748 | single nucleotide variant | NM_005148.4(UNC119):c.478C>T (p.Arg160Cys) | not provided [RCV001229499] | uncertain significance | 17 | 28547809 | 28547809 | Human | | name |
| 38489545 | CV949749 | single nucleotide variant | NM_005148.4(UNC119):c.362T>C (p.Leu121Pro) | not provided [RCV001238460] | uncertain significance | 17 | 28548074 | 28548074 | Human | | name |
| 38496300 | CV958012 | single nucleotide variant | NM_005148.4(UNC119):c.674G>A (p.Arg225Gln) | not provided [RCV001242471] | uncertain significance | 17 | 28547346 | 28547346 | Human | | name |
| 38460683 | CV958013 | single nucleotide variant | NM_005148.4(UNC119):c.625C>T (p.Arg209Cys) | not provided [RCV001246789] | uncertain significance | 17 | 28547395 | 28547395 | Human | | name |
| 126741515 | CV997389 | single nucleotide variant | NM_005148.4(UNC119):c.503G>A (p.Arg168His) | not provided [RCV001295914] | uncertain significance | 17 | 28547784 | 28547784 | Human | | name |
| 126752792 | CV997390 | single nucleotide variant | NM_005148.4(UNC119):c.380G>A (p.Arg127His) | not provided [RCV001297792]|not specified [RCV004887672] | uncertain significance | 17 | 28548056 | 28548056 | Human | | name |
| 126766051 | CV997391 | single nucleotide variant | NM_005148.4(UNC119):c.353G>A (p.Arg118Gln) | Idiopathic CD4 lymphocytopenia [RCV002486160]|not provided [RCV001301732] | uncertain significance | 17 | 28548083 | 28548083 | Human | 2 | name |
| 405049241 | CV3025424 | duplication | NM_005148.4(UNC119):c.423_433dup (p.Ala145fs) | not provided [RCV003696887] | uncertain significance | 17 | 28548002 | 28548003 | Human | | name |
| 156093755 | CV2014221 | insertion | NM_005148.4(UNC119):c.593_594insG (p.Leu199fs) | not provided [RCV002695038] | uncertain significance | 17 | 28547693 | 28547694 | Human | | name |
| 38464394 | CV937758 | deletion | NM_005148.4(UNC119):c.7del (p.Lys2_Val3insTer) | UNC119-related disorder [RCV004746264]|not provided [RCV001201564] | uncertain significance | 17 | 28552551 | 28552551 | Human | 1 | name , trait , alternate_id |
| 405237984 | CV3166992 | duplication | NM_005148.4(UNC119):c.147_152dup (p.Pro51_Gly52insArgPro) | not provided [RCV003854247] | uncertain significance | 17 | 28552405 | 28552406 | Human | | name |
| 407454506 | CV3489251 | single nucleotide variant | NM_001080533.3(UNC119B):c.7G>A (p.Gly3Arg) | not specified [RCV004685113] | uncertain significance | 12 | 120710481 | 120710481 | Human | | name |
| 407454512 | CV3489253 | single nucleotide variant | NM_001080533.3(UNC119B):c.7G>T (p.Gly3Trp) | not specified [RCV004685115] | uncertain significance | 12 | 120710481 | 120710481 | Human | | name |
| 156262354 | CV2287598 | single nucleotide variant | NM_001080533.3(UNC119B):c.56G>A (p.Gly19Glu) | not specified [RCV004141038] | uncertain significance | 12 | 120710530 | 120710530 | Human | | name |
| 401752104 | CV2714125 | single nucleotide variant | NM_001080533.3(UNC119B):c.52G>A (p.Gly18Arg) | not specified [RCV004317379] | uncertain significance | 12 | 120710526 | 120710526 | Human | | name |
| 405805708 | CV3348326 | single nucleotide variant | NM_001080533.3(UNC119B):c.52G>C (p.Gly18Arg) | not specified [RCV004479847] | uncertain significance | 12 | 120710526 | 120710526 | Human | | name |
| 156154980 | CV2242420 | single nucleotide variant | NM_001080533.3(UNC119B):c.173C>T (p.Thr58Met) | not specified [RCV004111420] | uncertain significance | 12 | 120710647 | 120710647 | Human | | name |
| 329382026 | CV2441699 | single nucleotide variant | NM_001080533.3(UNC119B):c.109C>A (p.Arg37Ser) | not specified [RCV004259512] | uncertain significance | 12 | 120710583 | 120710583 | Human | | name |
| 401881523 | CV2759445 | single nucleotide variant | NM_001080533.3(UNC119B):c.196G>C (p.Asp66His) | not specified [RCV004338441] | uncertain significance | 12 | 120710670 | 120710670 | Human | | name |
| 405805706 | CV3348325 | single nucleotide variant | NM_001080533.3(UNC119B):c.205C>T (p.Arg69Trp) | not specified [RCV004479846] | uncertain significance | 12 | 120710679 | 120710679 | Human | | name |
| 407454503 | CV3489250 | single nucleotide variant | NM_001080533.3(UNC119B):c.206G>A (p.Arg69Gln) | not specified [RCV004685112] | uncertain significance | 12 | 120710680 | 120710680 | Human | | name |
| 407454509 | CV3489252 | single nucleotide variant | NM_001080533.3(UNC119B):c.115A>G (p.Lys39Glu) | not specified [RCV004685114] | uncertain significance | 12 | 120710589 | 120710589 | Human | | name |
| 597720720 | CV3632727 | single nucleotide variant | NM_001080533.3(UNC119B):c.251T>C (p.Leu84Ser) | not specified [RCV004887853] | uncertain significance | 12 | 120713280 | 120713280 | Human | | name |
| 155920006 | CV2279524 | single nucleotide variant | NM_001080533.3(UNC119B):c.701A>G (p.Asp234Gly) | not specified [RCV004142040] | uncertain significance | 12 | 120719977 | 120719977 | Human | | name |
| 156125682 | CV2283650 | single nucleotide variant | NM_001080533.3(UNC119B):c.668A>T (p.Tyr223Phe) | not specified [RCV004142191] | uncertain significance | 12 | 120719944 | 120719944 | Human | | name |
| 156205608 | CV2311425 | single nucleotide variant | NM_001080533.3(UNC119B):c.412C>T (p.Arg138Cys) | not specified [RCV004168272] | uncertain significance | 12 | 120716681 | 120716681 | Human | | name |
| 155975417 | CV2327779 | single nucleotide variant | NM_001080533.3(UNC119B):c.659A>G (p.Glu220Gly) | not specified [RCV004179125] | uncertain significance | 12 | 120719935 | 120719935 | Human | | name |
| 155963410 | CV2388393 | single nucleotide variant | NM_001080533.3(UNC119B):c.437C>T (p.Pro146Leu) | not specified [RCV004234841] | uncertain significance | 12 | 120716706 | 120716706 | Human | | name |
| 401861679 | CV2756408 | single nucleotide variant | NM_001080533.3(UNC119B):c.325G>A (p.Val109Ile) | not specified [RCV004342949] | uncertain significance | 12 | 120713354 | 120713354 | Human | | name |
| 405805711 | CV3348327 | single nucleotide variant | NM_001080533.3(UNC119B):c.541C>T (p.His181Tyr) | not specified [RCV004479848] | uncertain significance | 12 | 120716940 | 120716940 | Human | | name |
| 407454515 | CV3489254 | single nucleotide variant | NM_001080533.3(UNC119B):c.461T>C (p.Val154Ala) | not specified [RCV004685116] | uncertain significance | 12 | 120716730 | 120716730 | Human | | name |
| 597790299 | CV3632726 | single nucleotide variant | NM_001080533.3(UNC119B):c.425A>G (p.Tyr142Cys) | not specified [RCV004876314] | uncertain significance | 12 | 120716694 | 120716694 | Human | | name |
| 597720729 | CV3632728 | single nucleotide variant | NM_001080533.3(UNC119B):c.482C>T (p.Thr161Ile) | not specified [RCV004887854] | uncertain significance | 12 | 120716881 | 120716881 | Human | | name |
| 598190962 | CV3925526 | single nucleotide variant | NM_001080533.3(UNC119B):c.610A>T (p.Ile204Phe) | not specified [RCV005288283] | uncertain significance | 12 | 120717009 | 120717009 | Human | | name |
| 8634536 | CV89756 | single nucleotide variant | NM_001080533.2(UNC119B):c.664C>T (p.Pro222Ser) | Malignant melanoma [RCV000069853] | not provided | 12 | 120719940 | 120719940 | Human | | name |