| 11591400 | CV290632 | single nucleotide variant | NM_024513.4(FYCO1):c.*21C>T | Cataract 18 [RCV000328777] | benign|uncertain significance | 3 | 45921744 | 45921744 | Human | 1 | name |
| 28869800 | CV889060 | single nucleotide variant | NM_024513.4(FYCO1):c.*59C>G | Cataract 18 [RCV001145080] | uncertain significance | 3 | 45921706 | 45921706 | Human | 1 | name |
| 11597463 | CV290625 | single nucleotide variant | NM_024513.4(FYCO1):c.*709C>T | Cataract 18 [RCV000394773] | uncertain significance | 3 | 45921056 | 45921056 | Human | 1 | name |
| 11590616 | CV290627 | single nucleotide variant | NM_024513.4(FYCO1):c.*191G>A | Cataract 18 [RCV000320791]|not provided [RCV001709618] | benign|likely benign | 3 | 45921574 | 45921574 | Human | 1 | name |
| 11594428 | CV290628 | single nucleotide variant | NM_024513.4(FYCO1):c.*176C>T | Cataract 18 [RCV000359152]|not provided [RCV004694749] | uncertain significance | 3 | 45921589 | 45921589 | Human | 1 | name |
| 11592962 | CV291517 | single nucleotide variant | NM_024513.4(FYCO1):c.*724C>A | Cataract 18 [RCV000343780] | likely benign|uncertain significance | 3 | 45921041 | 45921041 | Human | 1 | name |
| 11594096 | CV291519 | single nucleotide variant | NM_024513.4(FYCO1):c.*505A>G | Cataract 18 [RCV000355664]|not provided [RCV004708781] | benign | 3 | 45921260 | 45921260 | Human | 1 | name |
| 11598114 | CV291521 | single nucleotide variant | NM_024513.4(FYCO1):c.*466C>T | Cataract 18 [RCV000401581]|not provided [RCV004708782] | benign|likely benign | 3 | 45921299 | 45921299 | Human | 1 | name |
| 11646582 | CV291527 | single nucleotide variant | NM_024513.4(FYCO1):c.*132C>T | Cataract 18 [RCV000271479] | uncertain significance | 3 | 45921633 | 45921633 | Human | 1 | name |
| 11586578 | CV294746 | single nucleotide variant | NM_024513.4(FYCO1):c.*810G>A | Cataract 18 [RCV000288811] | uncertain significance | 3 | 45920955 | 45920955 | Human | 1 | name |
| 11587424 | CV294747 | single nucleotide variant | NM_024513.4(FYCO1):c.*678A>G | Cataract 18 [RCV000294883] | uncertain significance | 3 | 45921087 | 45921087 | Human | 1 | name |
| 11597527 | CV294751 | single nucleotide variant | NM_024513.4(FYCO1):c.*654T>C | Cataract 18 [RCV000394766]|not provided [RCV004708780] | benign | 3 | 45921111 | 45921111 | Human | 1 | name |
| 11587712 | CV294752 | single nucleotide variant | NM_024513.4(FYCO1):c.*455A>G | Cataract 18 [RCV000297356]|not provided [RCV004708783] | benign | 3 | 45921310 | 45921310 | Human | 1 | name |
| 11583604 | CV294753 | single nucleotide variant | NM_024513.4(FYCO1):c.*308A>G | Cataract 18 [RCV000268040]|not provided [RCV004708785] | benign | 3 | 45921457 | 45921457 | Human | 1 | name |
| 11585198 | CV294787 | single nucleotide variant | NM_024513.4(FYCO1):c.-214C>T | Cataract 18 [RCV000279161] | uncertain significance | 3 | 45995823 | 45995823 | Human | 1 | name |
| 11593519 | CV295144 | single nucleotide variant | NM_024513.4(FYCO1):c.*662G>C | Cataract 18 [RCV000349835]|not provided [RCV004709961] | benign | 3 | 45921103 | 45921103 | Human | 1 | name |
| 11651771 | CV295147 | single nucleotide variant | NM_024513.4(FYCO1):c.*620G>A | Cataract 18 [RCV000300740] | uncertain significance | 3 | 45921145 | 45921145 | Human | 1 | name |
| 11594662 | CV295148 | single nucleotide variant | NM_024513.4(FYCO1):c.*315G>A | Cataract 18 [RCV000361483]|not provided [RCV004708784] | benign | 3 | 45921450 | 45921450 | Human | 1 | name |
| 15142521 | CV695204 | single nucleotide variant | NM_024513.4(FYCO1):c.56-4A>G | Cataract 18 [RCV001149811] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45981680 | 45981680 | Human | 1 | name |
| 28873827 | CV889057 | single nucleotide variant | NM_024513.4(FYCO1):c.*988C>A | Cataract 18 [RCV001146934] | uncertain significance | 3 | 45920777 | 45920777 | Human | 1 | name |
| 28880610 | CV889058 | single nucleotide variant | NM_024513.4(FYCO1):c.*431A>G | Cataract 18 [RCV001149375] | uncertain significance | 3 | 45921334 | 45921334 | Human | 1 | name |
| 28880615 | CV889059 | single nucleotide variant | NM_024513.4(FYCO1):c.*342C>T | Cataract 18 [RCV001149376] | uncertain significance | 3 | 45921423 | 45921423 | Human | 1 | name |
| 150459584 | CV1268363 | single nucleotide variant | NM_024513.4(FYCO1):c.55+89C>T | not provided [RCV001693360] | benign | 3 | 45984767 | 45984767 | Human | | name |
| 11585600 | CV290588 | single nucleotide variant | NM_024513.4(FYCO1):c.*3527G>A | Cataract 18 [RCV000282039] | uncertain significance | 3 | 45918238 | 45918238 | Human | 1 | name |
| 11597670 | CV290594 | single nucleotide variant | NM_024513.4(FYCO1):c.*3498A>G | Cataract 18 [RCV000396820]|not provided [RCV004708772] | benign | 3 | 45918267 | 45918267 | Human | 1 | name |
| 11660333 | CV290595 | single nucleotide variant | NM_024513.4(FYCO1):c.*3191G>A | Cataract 18 [RCV000365979] | uncertain significance | 3 | 45918574 | 45918574 | Human | 1 | name |
| 11596790 | CV290602 | single nucleotide variant | NM_024513.4(FYCO1):c.*2757C>A | Cataract 18 [RCV000386700] | uncertain significance | 3 | 45919008 | 45919008 | Human | 1 | name |
| 11588978 | CV290606 | single nucleotide variant | NM_024513.4(FYCO1):c.*2060C>A | Cataract 18 [RCV000307365] | benign|likely benign | 3 | 45919705 | 45919705 | Human | 1 | name |
| 11598181 | CV290608 | single nucleotide variant | NM_024513.4(FYCO1):c.*1748C>T | Cataract 18 [RCV000402282] | likely benign|uncertain significance | 3 | 45920017 | 45920017 | Human | 1 | name |
| 11583030 | CV290612 | single nucleotide variant | NM_024513.4(FYCO1):c.*1445C>T | Cataract 18 [RCV000263707]|not provided [RCV004694748] | uncertain significance | 3 | 45920320 | 45920320 | Human | 1 | name |
| 11582497 | CV290615 | single nucleotide variant | NM_024513.4(FYCO1):c.*1285G>C | Cataract 18 [RCV000260159] | uncertain significance | 3 | 45920480 | 45920480 | Human | 1 | name |
| 11596508 | CV290616 | single nucleotide variant | NM_024513.4(FYCO1):c.*1056C>T | Cataract 18 [RCV000382991] | benign|uncertain significance | 3 | 45920709 | 45920709 | Human | 1 | name |
| 11596708 | CV291470 | single nucleotide variant | NM_024513.4(FYCO1):c.*3725A>G | Cataract 18 [RCV000385809] | likely benign|uncertain significance | 3 | 45918040 | 45918040 | Human | 1 | name |
| 11588793 | CV291471 | single nucleotide variant | NM_024513.4(FYCO1):c.*3439A>T | Cataract 18 [RCV000305643] | benign|likely benign | 3 | 45918326 | 45918326 | Human | 1 | name |
| 11657560 | CV291472 | single nucleotide variant | NM_024513.4(FYCO1):c.*3366T>G | Cataract 18 [RCV000341885] | uncertain significance | 3 | 45918399 | 45918399 | Human | 1 | name |
| 11584086 | CV291474 | single nucleotide variant | NM_024513.4(FYCO1):c.*3178G>T | Cataract 18 [RCV000271398]|not provided [RCV004708773] | benign | 3 | 45918587 | 45918587 | Human | 1 | name |
| 11589022 | CV291476 | single nucleotide variant | NM_024513.4(FYCO1):c.*3057G>A | Cataract 18 [RCV000307740] | uncertain significance | 3 | 45918708 | 45918708 | Human | 1 | name |
| 11659934 | CV291482 | single nucleotide variant | NM_024513.4(FYCO1):c.*2889C>A | Cataract 18 [RCV000362449] | uncertain significance | 3 | 45918876 | 45918876 | Human | 1 | name |
| 11584863 | CV291488 | single nucleotide variant | NM_024513.4(FYCO1):c.*2851C>T | Cataract 18 [RCV000277061] | likely benign|uncertain significance | 3 | 45918914 | 45918914 | Human | 1 | name |
| 11647023 | CV291501 | single nucleotide variant | NM_024513.4(FYCO1):c.*2741G>A | Cataract 18 [RCV000273607] | uncertain significance | 3 | 45919024 | 45919024 | Human | 1 | name |
| 11596308 | CV291503 | deletion | NM_024513.4(FYCO1):c.*2694del | Developmental cataract [RCV000380510] | uncertain significance | 3 | 45919071 | 45919071 | Human | 2 | name |
| 11597494 | CV291505 | single nucleotide variant | NM_024513.4(FYCO1):c.*2406G>A | Cataract 18 [RCV000395051]|not provided [RCV004708778] | benign | 3 | 45919359 | 45919359 | Human | 1 | name |
| 11664043 | CV291508 | single nucleotide variant | NM_024513.4(FYCO1):c.*2286T>C | Cataract 18 [RCV000401859] | uncertain significance | 3 | 45919479 | 45919479 | Human | 1 | name |
| 11653862 | CV291509 | single nucleotide variant | NM_024513.4(FYCO1):c.*1655A>G | Developmental cataract [RCV000313139] | uncertain significance | 3 | 45920110 | 45920110 | Human | 2 | name |
| 11594041 | CV291510 | single nucleotide variant | NM_024513.4(FYCO1):c.*1303C>G | Cataract 18 [RCV000354939] | benign | 3 | 45920462 | 45920462 | Human | 1 | name |
| 11655069 | CV291516 | single nucleotide variant | NM_024513.4(FYCO1):c.*1235C>A | Cataract 18 [RCV000322765] | uncertain significance | 3 | 45920530 | 45920530 | Human | 1 | name |
| 11586168 | CV294727 | single nucleotide variant | NM_024513.4(FYCO1):c.*2611A>G | Cataract 18 [RCV000286134]|not provided [RCV004708776] | benign | 3 | 45919154 | 45919154 | Human | 1 | name |
| 11592649 | CV294728 | single nucleotide variant | NM_024513.4(FYCO1):c.*2557G>A | Cataract 18 [RCV000340956]|not provided [RCV004708777] | benign | 3 | 45919208 | 45919208 | Human | 1 | name |
| 11650320 | CV294729 | single nucleotide variant | NM_024513.4(FYCO1):c.*2307C>G | Cataract 18 [RCV000292099] | uncertain significance | 3 | 45919458 | 45919458 | Human | 1 | name |
| 11595999 | CV294731 | single nucleotide variant | NM_024513.4(FYCO1):c.*1185A>T | Cataract 18 [RCV000377341] | uncertain significance | 3 | 45920580 | 45920580 | Human | 1 | name |
| 11593511 | CV295094 | single nucleotide variant | NM_024513.4(FYCO1):c.*3742T>A | Cataract 18 [RCV000349763]|not provided [RCV004708771] | benign | 3 | 45918023 | 45918023 | Human | 1 | name |
| 11592284 | CV295095 | single nucleotide variant | NM_024513.4(FYCO1):c.*3502A>T | Cataract 18 [RCV000337174] | uncertain significance | 3 | 45918263 | 45918263 | Human | 1 | name |
| 11663709 | CV295099 | single nucleotide variant | NM_024513.4(FYCO1):c.*3283G>A | Cataract 18 [RCV000398376] | uncertain significance | 3 | 45918482 | 45918482 | Human | 1 | name |
| 11588300 | CV295105 | deletion | NM_024513.4(FYCO1):c.*3257del | Developmental cataract [RCV000301968] | benign | 3 | 45918508 | 45918508 | Human | 2 | name |
| 11591740 | CV295106 | single nucleotide variant | NM_024513.4(FYCO1):c.*2837C>G | Cataract 18 [RCV000332081]|not provided [RCV004708774] | benign | 3 | 45918928 | 45918928 | Human | 4 | name |
| 11591740 | CV295106 | single nucleotide variant | NM_024513.4(FYCO1):c.*2837C>G | Cataract 18 [RCV000332081]|not provided [RCV004708774] | benign | 3 | 45918928 | 45918929 | Human | 4 | name |
| 11585193 | CV295113 | single nucleotide variant | NM_024513.4(FYCO1):c.*2695A>T | Cataract 18 [RCV000279401]|not provided [RCV004708775] | benign | 3 | 45919070 | 45919070 | Human | 1 | name |
| 11658174 | CV295114 | single nucleotide variant | NM_024513.4(FYCO1):c.*2301A>G | Cataract 18 [RCV000346934] | uncertain significance | 3 | 45919464 | 45919464 | Human | 1 | name |
| 11660530 | CV295123 | deletion | NM_024513.4(FYCO1):c.*1499del | Developmental cataract [RCV000367777] | uncertain significance | 3 | 45920266 | 45920266 | Human | 2 | name |
| 11590408 | CV295130 | single nucleotide variant | NM_024513.4(FYCO1):c.*1415G>A | Cataract 18 [RCV000318928]|not provided [RCV004708779] | benign | 3 | 45920350 | 45920350 | Human | 1 | name |
| 11585706 | CV295131 | single nucleotide variant | NM_024513.4(FYCO1):c.*1173C>T | Cataract 18 [RCV000282941] | likely benign|uncertain significance | 3 | 45920592 | 45920592 | Human | 1 | name |
| 11655857 | CV295137 | single nucleotide variant | NM_024513.4(FYCO1):c.*1149C>G | Cataract 18 [RCV000328664] | uncertain significance | 3 | 45920616 | 45920616 | Human | 1 | name |
| 28875376 | CV889037 | single nucleotide variant | NM_024513.4(FYCO1):c.*3691A>C | Cataract 18 [RCV001147630] | uncertain significance | 3 | 45918074 | 45918074 | Human | 1 | name |
| 28875380 | CV889038 | single nucleotide variant | NM_024513.4(FYCO1):c.*3583C>T | Cataract 18 [RCV001147631] | uncertain significance | 3 | 45918182 | 45918182 | Human | 1 | name |
| 28885812 | CV889039 | single nucleotide variant | NM_024513.4(FYCO1):c.*3560C>A | Cataract 18 [RCV001150975] | likely benign | 3 | 45918205 | 45918205 | Human | 1 | name |
| 28885816 | CV889040 | single nucleotide variant | NM_024513.4(FYCO1):c.*3512T>A | Cataract 18 [RCV001150976] | uncertain significance | 3 | 45918253 | 45918253 | Human | 1 | name |
| 28885819 | CV889041 | single nucleotide variant | NM_024513.4(FYCO1):c.*3326G>A | Cataract 18 [RCV001150977] | uncertain significance | 3 | 45918439 | 45918439 | Human | 1 | name |
| 28869294 | CV889042 | single nucleotide variant | NM_024513.4(FYCO1):c.*3278G>A | Cataract 18 [RCV001144866] | uncertain significance | 3 | 45918487 | 45918487 | Human | 1 | name |
| 28869296 | CV889043 | single nucleotide variant | NM_024513.4(FYCO1):c.*3063G>A | Cataract 18 [RCV001144867] | uncertain significance | 3 | 45918702 | 45918702 | Human | 1 | name |
| 28869298 | CV889044 | single nucleotide variant | NM_024513.4(FYCO1):c.*3006G>A | Cataract 18 [RCV001144868] | uncertain significance | 3 | 45918759 | 45918759 | Human | 1 | name |
| 28873636 | CV889045 | single nucleotide variant | NM_024513.4(FYCO1):c.*2771A>G | Cataract 18 [RCV001146846] | uncertain significance | 3 | 45918994 | 45918994 | Human | 1 | name |
| 28875594 | CV889046 | single nucleotide variant | NM_024513.4(FYCO1):c.*2343G>A | Cataract 18 [RCV001147738] | uncertain significance | 3 | 45919422 | 45919422 | Human | 1 | name |
| 28875596 | CV889047 | single nucleotide variant | NM_024513.4(FYCO1):c.*2275G>A | Cataract 18 [RCV001147739] | uncertain significance | 3 | 45919490 | 45919490 | Human | 1 | name |
| 28875598 | CV889048 | single nucleotide variant | NM_024513.4(FYCO1):c.*2238C>A | Cataract 18 [RCV001147740] | likely benign | 3 | 45919527 | 45919527 | Human | 1 | name |
| 28886176 | CV889049 | single nucleotide variant | NM_024513.4(FYCO1):c.*1686A>G | Cataract 18 [RCV001151079] | likely benign | 3 | 45920079 | 45920079 | Human | 1 | name |
| 28886179 | CV889050 | single nucleotide variant | NM_024513.4(FYCO1):c.*1419C>T | Cataract 18 [RCV001151080] | benign | 3 | 45920346 | 45920346 | Human | 1 | name |
| 28886184 | CV889051 | single nucleotide variant | NM_024513.4(FYCO1):c.*1411G>A | Cataract 18 [RCV001151081] | uncertain significance | 3 | 45920354 | 45920354 | Human | 1 | name |
| 28869566 | CV889052 | single nucleotide variant | NM_024513.4(FYCO1):c.*1398G>A | Cataract 18 [RCV001144974] | uncertain significance | 3 | 45920367 | 45920367 | Human | 1 | name |
| 28869569 | CV889053 | single nucleotide variant | NM_024513.4(FYCO1):c.*1349T>C | Cataract 18 [RCV001144975] | uncertain significance | 3 | 45920416 | 45920416 | Human | 1 | name |
| 28869571 | CV889054 | single nucleotide variant | NM_024513.4(FYCO1):c.*1270T>C | Cataract 18 [RCV001144976] | uncertain significance | 3 | 45920495 | 45920495 | Human | 1 | name |
| 28869574 | CV889055 | single nucleotide variant | NM_024513.4(FYCO1):c.*1211C>A | Cataract 18 [RCV001144977] | uncertain significance | 3 | 45920554 | 45920554 | Human | 1 | name |
| 28873824 | CV889056 | single nucleotide variant | NM_024513.4(FYCO1):c.*1074C>T | Cataract 18 [RCV001146933] | uncertain significance | 3 | 45920691 | 45920691 | Human | 1 | name |
| 150338948 | CV1167294 | single nucleotide variant | NM_024513.4(FYCO1):c.539+35A>C | not provided [RCV001533917] | benign | 3 | 45973053 | 45973053 | Human | | name |
| 150429372 | CV1186609 | single nucleotide variant | NM_024513.4(FYCO1):c.289-56C>T | not provided [RCV001563511] | likely benign | 3 | 45975401 | 45975401 | Human | | name |
| 150500359 | CV1212198 | single nucleotide variant | NM_024513.4(FYCO1):c.56-262A>G | not provided [RCV001594552] | likely benign | 3 | 45981938 | 45981938 | Human | | name |
| 150474084 | CV1272277 | deletion | NM_024513.4(FYCO1):c.55+138del | not provided [RCV001695815] | benign | 3 | 45984718 | 45984718 | Human | | name |
| 150461775 | CV1275998 | single nucleotide variant | NM_024513.4(FYCO1):c.630+98G>C | not provided [RCV001709936] | benign | 3 | 45969577 | 45969577 | Human | | name |
| 152046556 | CV1519635 | single nucleotide variant | NM_024513.4(FYCO1):c.3270-6C>T | Cataract 18 [RCV002145148] | likely benign | 3 | 45962398 | 45962398 | Human | 1 | name |
| 153301725 | CV1687913 | single nucleotide variant | NM_024513.4(FYCO1):c.395+44A>G | not provided [RCV002265139] | likely benign | 3 | 45975195 | 45975195 | Human | | name |
| 11548744 | CV251167 | single nucleotide variant | NM_024513.4(FYCO1):c.289-14T>A | Cataract 18 [RCV000294396]|not provided [RCV001668585]|not specified [RCV000249497] | benign | 3 | 45975359 | 45975359 | Human | 1 | name |
| 405265685 | CV3215597 | single nucleotide variant | NM_024513.4(FYCO1):c.3270-2A>C | FYCO1-related disorder [RCV003946784] | pathogenic | 3 | 45962394 | 45962394 | Human | | name , trait , alternate_id |
| 597924449 | CV3808645 | single nucleotide variant | NM_024513.4(FYCO1):c.3269+1G>C | Cataract 18 [RCV005156159] | likely pathogenic | 3 | 45964335 | 45964335 | Human | 1 | name |
| 13520896 | CV495199 | single nucleotide variant | NM_024513.4(FYCO1):c.3150+1G>T | Cataract 18 [RCV001613393]|not provided [RCV000599010] | pathogenic|likely pathogenic | 3 | 45965032 | 45965032 | Human | 1 | name |
| 28874689 | CV891653 | single nucleotide variant | NM_024513.4(FYCO1):c.630+15G>T | Cataract 18 [RCV001147320] | benign | 3 | 45969660 | 45969660 | Human | 1 | name |
| 41408218 | CV980777 | single nucleotide variant | NM_024513.4(FYCO1):c.4362-2A>G | Cataract 18 [RCV001318249]|not provided [RCV001281631] | pathogenic|uncertain significance | 3 | 45921842 | 45921842 | Human | 1 | name |
| 150332717 | CV1168995 | single nucleotide variant | NM_024513.4(FYCO1):c.3438-29C>T | Cataract 18 [RCV001702917]|not provided [RCV001537006] | benign | 3 | 45959571 | 45959571 | Human | 1 | name |
| 150423473 | CV1183356 | single nucleotide variant | NM_024513.4(FYCO1):c.3269+61G>A | not provided [RCV001555368] | likely benign | 3 | 45964275 | 45964275 | Human | | name |
| 150415039 | CV1190056 | single nucleotide variant | NM_024513.4(FYCO1):c.630+144G>A | not provided [RCV001567807] | likely benign | 3 | 45969531 | 45969531 | Human | | name |
| 150513953 | CV1210784 | single nucleotide variant | NM_024513.4(FYCO1):c.163-130A>C | not provided [RCV001598825] | benign | 3 | 45979960 | 45979960 | Human | | name |
| 150503576 | CV1212510 | single nucleotide variant | NM_024513.4(FYCO1):c.3057+67A>G | not provided [RCV001595385] | benign | 3 | 45966210 | 45966210 | Human | | name |
| 150457021 | CV1235283 | single nucleotide variant | NM_024513.4(FYCO1):c.4040+41A>G | not provided [RCV001648699] | benign | 3 | 45936407 | 45936407 | Human | | name |
| 150437060 | CV1235515 | single nucleotide variant | NM_024513.4(FYCO1):c.396-320A>G | not provided [RCV001644301] | benign | 3 | 45973551 | 45973551 | Human | | name |
| 150432279 | CV1236707 | single nucleotide variant | NM_024513.4(FYCO1):c.162+229C>T | not provided [RCV001642112] | benign | 3 | 45981341 | 45981341 | Human | | name |
| 150470635 | CV1248034 | single nucleotide variant | NM_024513.4(FYCO1):c.162+298C>T | not provided [RCV001671070] | benign | 3 | 45981272 | 45981272 | Human | | name |
| 150442813 | CV1249180 | single nucleotide variant | NM_024513.4(FYCO1):c.289-107G>A | not provided [RCV001666612] | benign | 3 | 45975452 | 45975452 | Human | | name |
| 150437340 | CV1249853 | single nucleotide variant | NM_024513.4(FYCO1):c.4040+74G>A | not provided [RCV001665767] | benign | 3 | 45936374 | 45936374 | Human | | name |
| 150468321 | CV1257037 | single nucleotide variant | NM_024513.4(FYCO1):c.540-179T>C | not provided [RCV001670683] | benign | 3 | 45969944 | 45969944 | Human | | name |
| 150448573 | CV1260707 | single nucleotide variant | NM_024513.4(FYCO1):c.395+132A>C | not provided [RCV001680375] | benign | 3 | 45975107 | 45975107 | Human | | name |
| 150438352 | CV1264811 | single nucleotide variant | NM_024513.4(FYCO1):c.163-237A>C | not provided [RCV001678804] | benign | 3 | 45980067 | 45980067 | Human | | name |
| 150440054 | CV1266859 | single nucleotide variant | NM_024513.4(FYCO1):c.395+267C>T | not provided [RCV001690295] | benign | 3 | 45974972 | 45974972 | Human | | name |
| 150499462 | CV1270826 | single nucleotide variant | NM_024513.4(FYCO1):c.4251+71G>A | not provided [RCV001689376] | benign | 3 | 45931000 | 45931000 | Human | | name |
| 152125825 | CV1532395 | single nucleotide variant | NM_024513.4(FYCO1):c.3944+18C>G | Cataract 18 [RCV002118439] | benign | 3 | 45955231 | 45955231 | Human | 1 | name |
| 156040353 | CV2089611 | single nucleotide variant | NM_024513.4(FYCO1):c.3799+12G>A | Cataract 18 [RCV002867417] | likely benign | 3 | 45958396 | 45958396 | Human | 1 | name |
| 11543327 | CV251151 | single nucleotide variant | NM_024513.4(FYCO1):c.3587+15C>T | Cataract 18 [RCV000398342]|not provided [RCV001668586]|not specified [RCV000242312] | benign | 3 | 45959378 | 45959378 | Human | 1 | name |
| 28869803 | CV891650 | single nucleotide variant | NM_024513.4(FYCO1):c.4251+11G>A | Cataract 18 [RCV001145081] | uncertain significance | 3 | 45931060 | 45931060 | Human | 1 | name |
| 28870024 | CV891651 | single nucleotide variant | NM_024513.4(FYCO1):c.3269+10A>T | Cataract 18 [RCV001145184] | uncertain significance | 3 | 45964326 | 45964326 | Human | 1 | name |
| 28870031 | CV891652 | single nucleotide variant | NM_024513.4(FYCO1):c.3151-12G>A | Cataract 18 [RCV001145186] | uncertain significance | 3 | 45964466 | 45964466 | Human | 1 | name |
| 150334169 | CV1171123 | single nucleotide variant | NM_024513.4(FYCO1):c.3269+255G>C | not provided [RCV001539839] | likely benign | 3 | 45964081 | 45964081 | Human | | name |
| 150425222 | CV1183354 | single nucleotide variant | NM_024513.4(FYCO1):c.3945-259G>T | not provided [RCV001557724] | likely benign | 3 | 45936802 | 45936802 | Human | | name |
| 150426757 | CV1186608 | single nucleotide variant | NM_024513.4(FYCO1):c.3270-123T>C | not provided [RCV001559982] | likely benign | 3 | 45962515 | 45962515 | Human | | name |
| 150415469 | CV1197100 | single nucleotide variant | NM_024513.4(FYCO1):c.3944+302C>T | not provided [RCV001575413] | likely benign | 3 | 45954947 | 45954947 | Human | | name |
| 150501574 | CV1213391 | single nucleotide variant | NM_024513.4(FYCO1):c.3150+286T>C | not provided [RCV001594803] | benign | 3 | 45964747 | 45964747 | Human | | name |
| 150513761 | CV1213874 | deletion | NM_024513.4(FYCO1):c.4251+231del | not provided [RCV001598610] | likely benign | 3 | 45930840 | 45930840 | Human | | name |
| 150433215 | CV1216836 | single nucleotide variant | NM_024513.4(FYCO1):c.4362-165C>A | not provided [RCV001608738] | benign | 3 | 45922005 | 45922005 | Human | | name |
| 150469315 | CV1219053 | single nucleotide variant | NM_024513.4(FYCO1):c.3437+180C>T | not provided [RCV001614805] | benign | 3 | 45962045 | 45962045 | Human | | name |
| 150483313 | CV1223569 | single nucleotide variant | NM_024513.4(FYCO1):c.3944+152G>A | not provided [RCV001617283] | benign | 3 | 45955097 | 45955097 | Human | | name |
| 150435298 | CV1233825 | single nucleotide variant | NM_024513.4(FYCO1):c.3945-108C>A | not provided [RCV001643952] | benign | 3 | 45936651 | 45936651 | Human | | name |
| 150459355 | CV1236084 | single nucleotide variant | NM_024513.4(FYCO1):c.3944+258C>T | not provided [RCV001649055] | benign | 3 | 45954991 | 45954991 | Human | | name |
| 150492698 | CV1238529 | single nucleotide variant | NM_024513.4(FYCO1):c.3057+281C>T | not provided [RCV001655073] | benign | 3 | 45965996 | 45965996 | Human | | name |
| 150491685 | CV1239319 | single nucleotide variant | NM_024513.4(FYCO1):c.3151-212T>C | not provided [RCV001654887] | benign | 3 | 45964666 | 45964666 | Human | | name |
| 150464914 | CV1241401 | single nucleotide variant | NM_024513.4(FYCO1):c.3944+240T>C | not provided [RCV001649912] | benign | 3 | 45955009 | 45955009 | Human | | name |
| 150434374 | CV1243935 | single nucleotide variant | NM_024513.4(FYCO1):c.3944+158C>T | not provided [RCV001665142] | benign | 3 | 45955091 | 45955091 | Human | | name |
| 150470425 | CV1247989 | single nucleotide variant | NM_024513.4(FYCO1):c.3150+184G>C | not provided [RCV001671025] | benign | 3 | 45964849 | 45964849 | Human | | name |
| 150450676 | CV1254141 | single nucleotide variant | NM_024513.4(FYCO1):c.3944+222A>C | not provided [RCV001667779] | benign | 3 | 45955027 | 45955027 | Human | | name |
| 150466794 | CV1255798 | single nucleotide variant | NM_024513.4(FYCO1):c.3437+221A>G | not provided [RCV001670432] | benign | 3 | 45962004 | 45962004 | Human | | name |
| 150493722 | CV1257613 | single nucleotide variant | NM_024513.4(FYCO1):c.3150+256G>A | not provided [RCV001675286] | benign | 3 | 45964777 | 45964777 | Human | | name |
| 150470145 | CV1259776 | single nucleotide variant | NM_024513.4(FYCO1):c.3587+157A>C | not provided [RCV001684078] | benign | 3 | 45959236 | 45959236 | Human | | name |
| 150477469 | CV1262506 | single nucleotide variant | NM_024513.4(FYCO1):c.4361+189G>A | not provided [RCV001685319] | benign | 3 | 45923467 | 45923467 | Human | | name |
| 150486341 | CV1274037 | single nucleotide variant | NM_024513.4(FYCO1):c.-112-185G>T | not provided [RCV001698916] | benign | 3 | 45985207 | 45985207 | Human | | name |
| 150466793 | CV1277463 | single nucleotide variant | NM_024513.4(FYCO1):c.3438-193C>T | not provided [RCV001710758] | benign | 3 | 45959735 | 45959735 | Human | | name |
| 150446600 | CV1278338 | single nucleotide variant | NM_024513.4(FYCO1):c.-112-127C>A | not provided [RCV001707481] | benign | 3 | 45985149 | 45985149 | Human | | name |
| 150455669 | CV1278387 | single nucleotide variant | NM_024513.4(FYCO1):c.4252-129C>T | not provided [RCV001709002] | benign | 3 | 45923894 | 45923894 | Human | | name |
| 150482145 | CV1279922 | single nucleotide variant | NM_024513.4(FYCO1):c.3150+240G>A | not provided [RCV001714976] | benign | 3 | 45964793 | 45964793 | Human | | name |
| 11595449 | CV290607 | microsatellite | NM_024513.4(FYCO1):c.*1806ATC[1] | Developmental cataract [RCV000370828] | uncertain significance | 3 | 45919954 | 45919956 | Human | | name |
| 11635321 | CV294724 | duplication | NM_024513.4(FYCO1):c.*2693_*2694dup | Developmental cataract [RCV000334412] | benign | 3 | 45919070 | 45919071 | Human | 2 | name |
| 11635228 | CV290603 | insertion | NM_024513.4(FYCO1):c.*2695_*2696insT | Developmental cataract [RCV000319077] | uncertain significance | 3 | 45919069 | 45919070 | Human | 2 | name |
| 127269848 | CV1092508 | deletion | NM_024513.4(FYCO1):c.3438-9_3438-8del | Cataract 18 [RCV001441217]|FYCO1-related disorder [RCV003946153] | likely benign | 3 | 45959550 | 45959551 | Human | 1 | name , trait , alternate_id |
| 11595722 | CV291502 | insertion | NM_024513.4(FYCO1):c.*2695_*2696insTT | Developmental cataract [RCV000373775]|not provided [RCV004694747] | uncertain significance | 3 | 45919069 | 45919070 | Human | 2 | name |
| 11551062 | CV251168 | single nucleotide variant | NM_024513.4(FYCO1):c.267C>A (p.Arg89=) | Cataract 18 [RCV000337740]|not provided [RCV000836671]|not specified [RCV000252557] | benign | 3 | 45979726 | 45979726 | Human | 1 | name |
| 11664367 | CV294785 | single nucleotide variant | NM_024513.4(FYCO1):c.150G>A (p.Glu50=) | Cataract 18 [RCV000405125] | uncertain significance | 3 | 45981582 | 45981582 | Human | 1 | name |
| 15115127 | CV691424 | single nucleotide variant | NM_024513.4(FYCO1):c.186C>T (p.Thr62=) | Cataract 18 [RCV001149809]|FYCO1-related disorder [RCV003938325] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45979807 | 45979807 | Human | 1 | name , trait , alternate_id |
| 15176531 | CV708872 | single nucleotide variant | NM_024513.4(FYCO1):c.108G>A (p.Thr36=) | Cataract 18 [RCV001480465] | likely benign | 3 | 45981624 | 45981624 | Human | 1 | name |
| 28877131 | CV889094 | single nucleotide variant | NM_024513.4(FYCO1):c.297A>T (p.Thr99=) | Cataract 18 [RCV001148254] | uncertain significance | 3 | 45975337 | 45975337 | Human | 1 | name |
| 150467625 | CV1240910 | deletion | NM_024513.4(FYCO1):c.395+164_395+167del | not provided [RCV001650368] | benign | 3 | 45975072 | 45975075 | Human | | name |
| 152160205 | CV1642402 | single nucleotide variant | NM_024513.4(FYCO1):c.816G>A (p.Glu272=) | Cataract 18 [RCV002103654] | likely benign | 3 | 45968518 | 45968518 | Human | 1 | name |
| 156121192 | CV2039871 | single nucleotide variant | NM_024513.4(FYCO1):c.44G>C (p.Arg15Pro) | Cataract 18 [RCV002785798] | uncertain significance | 3 | 45984867 | 45984867 | Human | 1 | name |
| 11550290 | CV251165 | single nucleotide variant | NM_024513.4(FYCO1):c.819A>G (p.Gln273=) | Cataract 18 [RCV000365307]|not provided [RCV000836724]|not specified [RCV000251552] | benign | 3 | 45968515 | 45968515 | Human | 1 | name |
| 401782933 | CV2716050 | single nucleotide variant | NM_024513.4(FYCO1):c.80A>T (p.Glu27Val) | Inborn genetic diseases [RCV003309234] | uncertain significance | 3 | 45981652 | 45981652 | Human | 1 | name |
| 404997517 | CV2868175 | single nucleotide variant | NM_024513.4(FYCO1):c.396T>C (p.Ser132=) | Cataract 18 [RCV003525801] | uncertain significance | 3 | 45973231 | 45973231 | Human | 1 | name |
| 405199345 | CV3049160 | single nucleotide variant | NM_024513.4(FYCO1):c.417C>T (p.Ser139=) | Cataract 18 [RCV003641964] | likely benign | 3 | 45973210 | 45973210 | Human | 1 | name |
| 402523527 | CV3175843 | single nucleotide variant | NM_024513.4(FYCO1):c.990G>A (p.Glu330=) | Cataract 18 [RCV003879943] | likely benign | 3 | 45968344 | 45968344 | Human | 1 | name |
| 405730608 | CV3257774 | single nucleotide variant | NM_024513.4(FYCO1):c.84T>A (p.Phe28Leu) | Inborn genetic diseases [RCV004389947] | uncertain significance | 3 | 45981648 | 45981648 | Human | 1 | name |
| 597670548 | CV3676879 | single nucleotide variant | NM_024513.4(FYCO1):c.44G>A (p.Arg15Gln) | Inborn genetic diseases [RCV004980264] | uncertain significance | 3 | 45984867 | 45984867 | Human | 1 | name |
| 597682757 | CV3676890 | single nucleotide variant | NM_024513.4(FYCO1):c.56A>G (p.Asp19Gly) | Inborn genetic diseases [RCV004983601] | uncertain significance | 3 | 45981676 | 45981676 | Human | 1 | name |
| 15114641 | CV734078 | single nucleotide variant | NM_024513.4(FYCO1):c.333C>T (p.Ser111=) | not provided [RCV000894890] | likely benign | 3 | 45975301 | 45975301 | Human | | name |
| 28881650 | CV889085 | single nucleotide variant | NM_024513.4(FYCO1):c.933T>C (p.Thr311=) | Cataract 18 [RCV001149694] | uncertain significance | 3 | 45968401 | 45968401 | Human | 1 | name |
| 28874683 | CV889088 | single nucleotide variant | NM_024513.4(FYCO1):c.708A>G (p.Arg236=) | Cataract 18 [RCV001147318] | uncertain significance | 3 | 45968626 | 45968626 | Human | 1 | name |
| 28874685 | CV889089 | single nucleotide variant | NM_024513.4(FYCO1):c.678C>T (p.Asn226=) | Cataract 18 [RCV001147319]|FYCO1-related disorder [RCV004743301] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45968656 | 45968656 | Human | 1 | name , trait , alternate_id |
| 28874691 | CV889090 | single nucleotide variant | NM_024513.4(FYCO1):c.546G>A (p.Thr182=) | Cataract 18 [RCV001147321]|Inborn genetic diseases [RCV004619525] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45969759 | 45969759 | Human | 2 | name |
| 127235690 | CV1092509 | single nucleotide variant | NM_024513.4(FYCO1):c.2199C>T (p.Leu733=) | Cataract 18 [RCV001433166] | likely benign | 3 | 45967135 | 45967135 | Human | 1 | name |
| 151849320 | CV1368308 | single nucleotide variant | NM_024513.4(FYCO1):c.217T>C (p.Tyr73His) | Cataract 18 [RCV001978712] | uncertain significance | 3 | 45979776 | 45979776 | Human | 1 | name |
| 152138348 | CV1565000 | single nucleotide variant | NM_024513.4(FYCO1):c.2622G>A (p.Gln874=) | Cataract 18 [RCV002083821] | benign | 3 | 45966712 | 45966712 | Human | 1 | name |
| 152086997 | CV1578253 | single nucleotide variant | NM_024513.4(FYCO1):c.1425G>A (p.Glu475=) | Cataract 18 [RCV002171305] | likely benign | 3 | 45967909 | 45967909 | Human | 1 | name |
| 152102206 | CV1590687 | single nucleotide variant | NM_024513.4(FYCO1):c.1677G>A (p.Pro559=) | Cataract 18 [RCV002115491] | likely benign | 3 | 45967657 | 45967657 | Human | 1 | name |
| 152058702 | CV1597259 | single nucleotide variant | NM_024513.4(FYCO1):c.2334G>A (p.Leu778=) | Cataract 18 [RCV002128088] | likely benign | 3 | 45967000 | 45967000 | Human | 1 | name |
| 156150956 | CV2197821 | single nucleotide variant | NM_024513.4(FYCO1):c.260G>A (p.Gly87Glu) | Inborn genetic diseases [RCV002641857] | uncertain significance | 3 | 45979733 | 45979733 | Human | 1 | name |
| 329354653 | CV2444630 | single nucleotide variant | NM_024513.4(FYCO1):c.293G>A (p.Arg98Gln) | Inborn genetic diseases [RCV003202426] | uncertain significance | 3 | 45975341 | 45975341 | Human | 1 | name |
| 11545159 | CV251158 | single nucleotide variant | NM_024513.4(FYCO1):c.2739C>T (p.Cys913=) | Cataract 18 [RCV000280102]|not provided [RCV000836727]|not specified [RCV000244760] | benign | 3 | 45966595 | 45966595 | Human | 1 | name |
| 11546450 | CV251162 | single nucleotide variant | NM_024513.4(FYCO1):c.1335G>A (p.Leu445=) | Cataract 18 [RCV000328833]|not provided [RCV000836725]|not specified [RCV000246478] | benign | 3 | 45967999 | 45967999 | Human | 1 | name |
| 11544095 | CV251163 | single nucleotide variant | NM_024513.4(FYCO1):c.1206G>A (p.Glu402=) | Cataract 18 [RCV000538035]|not provided [RCV000836839]|not specified [RCV000243330] | benign | 3 | 45968128 | 45968128 | Human | 1 | name |
| 401743055 | CV2694044 | single nucleotide variant | NM_024513.4(FYCO1):c.263T>C (p.Ile88Thr) | Inborn genetic diseases [RCV003274988] | uncertain significance | 3 | 45979730 | 45979730 | Human | 1 | name |
| 401922210 | CV2827320 | single nucleotide variant | NM_024513.4(FYCO1):c.2142G>A (p.Glu714=) | not provided [RCV003433544] | likely benign | 3 | 45967192 | 45967192 | Human | | name |
| 405010620 | CV2889599 | single nucleotide variant | NM_024513.4(FYCO1):c.2328G>A (p.Ala776=) | Cataract 18 [RCV003527004] | likely benign | 3 | 45967006 | 45967006 | Human | 1 | name |
| 11661553 | CV290653 | single nucleotide variant | NM_024513.4(FYCO1):c.1464A>T (p.Ala488=) | Cataract 18 [RCV000377733] | uncertain significance | 3 | 45967870 | 45967870 | Human | 1 | name |
| 11589648 | CV291565 | single nucleotide variant | NM_024513.4(FYCO1):c.1887C>T (p.Val629=) | Cataract 18 [RCV000312403] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45967447 | 45967447 | Human | 1 | name |
| 11597468 | CV291592 | single nucleotide variant | NM_024513.4(FYCO1):c.1098C>T (p.Ala366=) | Cataract 18 [RCV000394795]|FYCO1-related disorder [RCV003912455] | likely benign|uncertain significance | 3 | 45968236 | 45968236 | Human | 1 | name , trait , alternate_id |
| 11592755 | CV294767 | single nucleotide variant | NM_024513.4(FYCO1):c.2718T>C (p.Ala906=) | Cataract 18 [RCV000870594]|FYCO1-related disorder [RCV003910357]|not provided [RCV001597110] | benign|likely benign|uncertain significance | 3 | 45966616 | 45966616 | Human | 1 | name , trait , alternate_id |
| 11586561 | CV294777 | single nucleotide variant | NM_024513.4(FYCO1):c.1248G>A (p.Lys416=) | Cataract 18 [RCV000288925] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45968086 | 45968086 | Human | 1 | name |
| 11589285 | CV295170 | single nucleotide variant | NM_024513.4(FYCO1):c.2109G>A (p.Gln703=) | Cataract 18 [RCV000309760] | benign|likely benign|uncertain significance | 3 | 45967225 | 45967225 | Human | 1 | name |
| 11592927 | CV295177 | single nucleotide variant | NM_024513.4(FYCO1):c.2037G>A (p.Ala679=) | Cataract 18 [RCV000343859] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 45967297 | 45967297 | Human | 1 | name |
| 405259301 | CV3194711 | single nucleotide variant | NM_024513.4(FYCO1):c.2766G>A (p.Val922=) | FYCO1-related disorder [RCV003894103] | likely benign | 3 | 45966568 | 45966568 | Human | | name , trait , alternate_id |
| 405259592 | CV3194877 | single nucleotide variant | NM_024513.4(FYCO1):c.2673C>T (p.His891=) | FYCO1-related disorder [RCV003894263] | likely benign | 3 | 45966661 | 45966661 | Human | | name , trait , alternate_id |
| 405261882 | CV3216591 | single nucleotide variant | NM_024513.4(FYCO1):c.1602G>A (p.Glu534=) | FYCO1-related disorder [RCV003944662] | likely benign | 3 | 45967732 | 45967732 | Human | | name , trait , alternate_id |
| 405287670 | CV3217856 | single nucleotide variant | NM_024513.4(FYCO1):c.2761C>A (p.Arg921=) | FYCO1-related disorder [RCV003981979] | likely benign | 3 | 45966573 | 45966573 | Human | | name , trait , alternate_id |
| 405731447 | CV3257762 | single nucleotide variant | NM_024513.4(FYCO1):c.136T>C (p.Ser46Pro) | Inborn genetic diseases [RCV004389935] | uncertain significance | 3 | 45981596 | 45981596 | Human | 1 | name |
| 597682742 | CV3676887 | single nucleotide variant | NM_024513.4(FYCO1):c.209A>T (p.Tyr70Phe) | Inborn genetic diseases [RCV004983599] | uncertain significance | 3 | 45979784 | 45979784 | Human | 1 | name |
| 597976240 | CV3829260 | single nucleotide variant | NM_024513.4(FYCO1):c.1815G>T (p.Val605=) | Cataract 18 [RCV005169709] | likely benign | 3 | 45967519 | 45967519 | Human | 1 | name |
| 597964606 | CV3830555 | single nucleotide variant | NM_024513.4(FYCO1):c.2937G>A (p.Gln979=) | Cataract 18 [RCV005164695] | likely benign | 3 | 45966397 | 45966397 | Human | 1 | name |
| 597944259 | CV3847841 | single nucleotide variant | NM_024513.4(FYCO1):c.104T>C (p.Ile35Thr) | Cataract 18 [RCV005188570] | uncertain significance | 3 | 45981628 | 45981628 | Human | 1 | name |
| 12905923 | CV413629 | single nucleotide variant | NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys) | FYCO1-related disorder [RCV003403126]|not provided [RCV000488185] | likely pathogenic|uncertain significance | 3 | 45979728 | 45979728 | Human | 1 | name , trait , alternate_id |
| 13501385 | CV452432 | single nucleotide variant | NM_024513.4(FYCO1):c.2844G>A (p.Glu948=) | Cataract 18 [RCV001418794] | likely benign | 3 | 45966490 | 45966490 | Human | 1 | name |
| 13480141 | CV452436 | single nucleotide variant | NM_024513.4(FYCO1):c.280A>G (p.Ile94Val) | Cataract 18 [RCV000528394] | uncertain significance | 3 | 45979713 | 45979713 | Human | 1 | name |
| 13492570 | CV452662 | single nucleotide variant | NM_024513.4(FYCO1):c.241G>A (p.Val81Met) | Cataract 18 [RCV000535057] | uncertain significance | 3 | 45979752 | 45979752 | Human | 1 | name |
| 13616543 | CV519310 | single nucleotide variant | NM_024513.4(FYCO1):c.1659C>T (p.Leu553=) | Cataract 18 [RCV000644760] | likely benign | 3 | 45967675 | 45967675 | Human | 1 | name |
| 15117533 | CV691423 | single nucleotide variant | NM_024513.4(FYCO1):c.2814G>A (p.Glu938=) | Cataract 18 [RCV000873517]|not provided [RCV001796292] | benign|likely benign | 3 | 45966520 | 45966520 | Human | 1 | name |
| 15157806 | CV748282 | single nucleotide variant | NM_024513.4(FYCO1):c.2865G>A (p.Gln955=) | Cataract 18 [RCV001409528] | likely benign | 3 | 45966469 | 45966469 | Human | 1 | name |
| 15098971 | CV748283 | single nucleotide variant | NM_024513.4(FYCO1):c.1119C>A (p.Ala373=) | not provided [RCV000914368] | likely benign | 3 | 45968215 | 45968215 | Human | | name |
| 15122589 | CV781683 | single nucleotide variant | NM_024513.4(FYCO1):c.2475C>T (p.Thr825=) | not provided [RCV000979673] | likely benign | 3 | 45966859 | 45966859 | Human | | name |
| 28881318 | CV889081 | single nucleotide variant | NM_024513.4(FYCO1):c.2121C>T (p.Gly707=) | Cataract 18 [RCV001149589] | uncertain significance | 3 | 45967213 | 45967213 | Human | 1 | name |
| 28882038 | CV889095 | single nucleotide variant | NM_024513.4(FYCO1):c.107C>T (p.Thr36Met) | Cataract 18 [RCV001149810]|Inborn genetic diseases [RCV004032774] | uncertain significance | 3 | 45981625 | 45981625 | Human | 2 | name |
| 40814743 | CV970769 | duplication | NM_024513.4(FYCO1):c.793dup (p.Ala265fs) | Cataract 18 [RCV001262245] | likely pathogenic | 3 | 45968540 | 45968541 | Human | 1 | name |
| 150498960 | CV1209006 | microsatellite | NM_024513.4(FYCO1):c.3800-239_3800-238del | not provided [RCV001594223] | likely benign | 3 | 45955631 | 45955632 | Human | | name |
| 150463785 | CV1252572 | deletion | NM_024513.4(FYCO1):c.4040+127_4040+129del | not provided [RCV001669895] | benign | 3 | 45936319 | 45936321 | Human | | name |
| 150544276 | CV1313240 | single nucleotide variant | NM_024513.4(FYCO1):c.823C>T (p.Gln275Ter) | Cataract 18 [RCV001783319] | pathogenic | 3 | 45968511 | 45968511 | Human | | name |
| 150544278 | CV1313241 | single nucleotide variant | NM_024513.4(FYCO1):c.524G>A (p.Trp175Ter) | Cataract 18 [RCV001783320] | pathogenic | 3 | 45973103 | 45973103 | Human | 1 | name |
| 150540581 | CV1314706 | deletion | NM_024513.4(FYCO1):c.1561del (p.Gln521fs) | Cataract 18 [RCV001781139] | likely pathogenic | 3 | 45967773 | 45967773 | Human | | name |
| 151829505 | CV1384256 | single nucleotide variant | NM_024513.4(FYCO1):c.575G>A (p.Trp192Ter) | Cataract 18 [RCV001955541] | pathogenic | 3 | 45969730 | 45969730 | Human | 1 | name |
| 151883119 | CV1475033 | single nucleotide variant | NM_024513.4(FYCO1):c.364C>G (p.Gln122Glu) | Cataract 18 [RCV001941439]|not provided [RCV002264434] | uncertain significance | 3 | 45975270 | 45975270 | Human | 1 | name |
| 156407236 | CV1875056 | single nucleotide variant | NM_024513.4(FYCO1):c.590G>T (p.Arg197Leu) | Cataract 18 [RCV003070783] | uncertain significance | 3 | 45969715 | 45969715 | Human | 1 | name |
| 156162502 | CV1925567 | deletion | NM_024513.4(FYCO1):c.2345del (p.Gln782fs) | Cataract 18 [RCV002664304] | pathogenic | 3 | 45966989 | 45966989 | Human | 1 | name |
| 156352514 | CV2118740 | single nucleotide variant | NM_024513.4(FYCO1):c.425T>C (p.Leu142Pro) | Cataract 18 [RCV002966404]|FYCO1-related disorder [RCV003418669] | uncertain significance | 3 | 45973202 | 45973202 | Human | 1 | name , trait , alternate_id |
| 155951399 | CV2238771 | single nucleotide variant | NM_024513.4(FYCO1):c.920C>T (p.Ala307Val) | Inborn genetic diseases [RCV002753085] | uncertain significance | 3 | 45968414 | 45968414 | Human | 1 | name |
| 155995464 | CV2259079 | single nucleotide variant | NM_024513.4(FYCO1):c.803G>T (p.Ser268Ile) | Inborn genetic diseases [RCV002778920] | uncertain significance | 3 | 45968531 | 45968531 | Human | 1 | name |
| 156212272 | CV2259940 | single nucleotide variant | NM_024513.4(FYCO1):c.889G>A (p.Glu297Lys) | Inborn genetic diseases [RCV002804155] | uncertain significance | 3 | 45968445 | 45968445 | Human | 1 | name |
| 11542779 | CV251148 | single nucleotide variant | NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=) | Cataract 18 [RCV001087165]|not provided [RCV000826993]|not specified [RCV000241595] | benign|likely benign | 3 | 45931236 | 45931236 | Human | 1 | name |
| 11549005 | CV251149 | single nucleotide variant | NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=) | Cataract 18 [RCV000334516]|not provided [RCV000836675]|not specified [RCV000249848] | benign | 3 | 45955269 | 45955269 | Human | 1 | name |
| 11545701 | CV251150 | single nucleotide variant | NM_024513.4(FYCO1):c.3705C>A (p.Gly1235=) | Cataract 18 [RCV000339886]|FYCO1-related disorder [RCV003891970] | benign|likely benign|uncertain significance | 3 | 45958502 | 45958502 | Human | 1 | name , trait , alternate_id |
| 11545607 | CV251153 | single nucleotide variant | NM_024513.4(FYCO1):c.3330C>T (p.Cys1110=) | not specified [RCV000245370] | likely benign | 3 | 45962332 | 45962332 | Human | | name |
| 11543788 | CV251164 | single nucleotide variant | NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala) | Cataract 18 [RCV000352891]|not provided [RCV000836673]|not specified [RCV000242928] | benign | 3 | 45968372 | 45968372 | Human | 1 | name |
| 11546699 | CV251166 | single nucleotide variant | NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln) | Cataract 18 [RCV000325885]|not provided [RCV000836672]|not specified [RCV000246802] | benign | 3 | 45968585 | 45968585 | Human | 1 | name |
| 401758898 | CV2705231 | single nucleotide variant | NM_024513.4(FYCO1):c.875C>T (p.Thr292Ile) | Inborn genetic diseases [RCV003256650] | uncertain significance | 3 | 45968459 | 45968459 | Human | 1 | name |
| 401773242 | CV2709204 | single nucleotide variant | NM_024513.4(FYCO1):c.566C>A (p.Ala189Asp) | Inborn genetic diseases [RCV003262132] | uncertain significance | 3 | 45969739 | 45969739 | Human | 1 | name |
| 401861371 | CV2759536 | single nucleotide variant | NM_024513.4(FYCO1):c.559T>C (p.Ser187Pro) | Inborn genetic diseases [RCV003342591] | uncertain significance | 3 | 45969746 | 45969746 | Human | 1 | name |
| 11662444 | CV290675 | single nucleotide variant | NM_024513.4(FYCO1):c.325C>T (p.Arg109Cys) | Cataract 18 [RCV000385855] | uncertain significance | 3 | 45975309 | 45975309 | Human | 1 | name |
| 11588600 | CV291548 | single nucleotide variant | NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=) | Cataract 18 [RCV000529328]|not provided [RCV001618615] | benign|likely benign | 3 | 45958418 | 45958418 | Human | 1 | name |
| 11588609 | CV291606 | single nucleotide variant | NM_024513.4(FYCO1):c.868C>T (p.Arg290Cys) | Cataract 18 [RCV000304151] | uncertain significance | 3 | 45968466 | 45968466 | Human | 1 | name |
| 11584333 | CV291607 | single nucleotide variant | NM_024513.4(FYCO1):c.753G>T (p.Glu251Asp) | Cataract 18 [RCV000273152] | likely benign|uncertain significance | 3 | 45968581 | 45968581 | Human | 1 | name |
| 11591919 | CV291608 | single nucleotide variant | NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe) | Cataract 18 [RCV000333739]|FYCO1-related disorder [RCV003912456]|not provided [RCV000877578] | benign|likely benign|uncertain significance | 3 | 45968687 | 45968687 | Human | 1 | name , trait , alternate_id |
| 11595737 | CV294763 | single nucleotide variant | NM_024513.4(FYCO1):c.3993C>T (p.Pro1331=) | Cataract 18 [RCV000374013]|not provided [RCV003430881] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45936495 | 45936495 | Human | 1 | name |
| 11583089 | CV294781 | single nucleotide variant | NM_024513.4(FYCO1):c.844C>T (p.Arg282Cys) | Cataract 18 [RCV000264158]|Inborn genetic diseases [RCV002523259] | uncertain significance | 3 | 45968490 | 45968490 | Human | 2 | name |
| 11587426 | CV294782 | single nucleotide variant | NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala) | Cataract 18 [RCV000544784]|FYCO1-related disorder [RCV003910358] | benign|uncertain significance | 3 | 45968621 | 45968621 | Human | 1 | name , trait , alternate_id |
| 11597591 | CV295166 | single nucleotide variant | NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) | Cataract 18 [RCV000644759] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45955368 | 45955368 | Human | 1 | name |
| 11598082 | CV295181 | single nucleotide variant | NM_024513.4(FYCO1):c.869G>A (p.Arg290His) | Cataract 18 [RCV000401368]|FYCO1-related disorder [RCV003922512]|Inborn genetic diseases [RCV002520126]|not provided [RCV003430882] | likely benign|uncertain significance | 3 | 45968465 | 45968465 | Human | 2 | name , trait , alternate_id |
| 11594595 | CV295183 | single nucleotide variant | NM_024513.4(FYCO1):c.845G>A (p.Arg282His) | Cataract 18 [RCV000537766]|not provided [RCV001691989] | benign|likely benign | 3 | 45968489 | 45968489 | Human | 1 | name |
| 11590753 | CV295189 | single nucleotide variant | NM_024513.4(FYCO1):c.833G>A (p.Arg278Lys) | Cataract 18 [RCV000322311] | uncertain significance | 3 | 45968501 | 45968501 | Human | 1 | name |
| 11596496 | CV295190 | single nucleotide variant | NM_024513.4(FYCO1):c.748C>T (p.Arg250Trp) | Cataract 18 [RCV000382861]|Inborn genetic diseases [RCV002520127] | uncertain significance | 3 | 45968586 | 45968586 | Human | 2 | name |
| 405189867 | CV3034707 | single nucleotide variant | NM_024513.4(FYCO1):c.3645C>T (p.His1215=) | Cataract 18 [RCV003640687] | likely benign | 3 | 45958562 | 45958562 | Human | 1 | name |
| 405265831 | CV3215682 | single nucleotide variant | NM_024513.4(FYCO1):c.4218G>A (p.Gln1406=) | FYCO1-related disorder [RCV003946856] | likely benign | 3 | 45931104 | 45931104 | Human | | name , trait , alternate_id |
| 405730600 | CV3257773 | single nucleotide variant | NM_024513.4(FYCO1):c.754C>T (p.Arg252Cys) | Inborn genetic diseases [RCV004389946] | uncertain significance | 3 | 45968580 | 45968580 | Human | 1 | name |
| 405730615 | CV3257775 | single nucleotide variant | NM_024513.4(FYCO1):c.994G>A (p.Asp332Asn) | Inborn genetic diseases [RCV004389948] | uncertain significance | 3 | 45968340 | 45968340 | Human | 1 | name |
| 407456062 | CV3415701 | deletion | NM_024513.4(FYCO1):c.1924del (p.Leu642fs) | Susceptibility to severe COVID-19 [RCV004598578] | likely pathogenic | 3 | 45967410 | 45967410 | Human | | name |
| 407485425 | CV3439446 | single nucleotide variant | NM_024513.4(FYCO1):c.689A>G (p.Glu230Gly) | Inborn genetic diseases [RCV004618915] | uncertain significance | 3 | 45968645 | 45968645 | Human | 1 | name |
| 407485442 | CV3439450 | single nucleotide variant | NM_024513.4(FYCO1):c.513G>T (p.Leu171Phe) | Inborn genetic diseases [RCV004618919] | uncertain significance | 3 | 45973114 | 45973114 | Human | 1 | name |
| 408379739 | CV3505955 | duplication | NM_024513.4(FYCO1):c.2147dup (p.Glu717fs) | FYCO1-related disorder [RCV004728639] | likely pathogenic | 3 | 45967186 | 45967187 | Human | | name , trait , alternate_id |
| 597670556 | CV3676881 | single nucleotide variant | NM_024513.4(FYCO1):c.464A>G (p.Tyr155Cys) | Inborn genetic diseases [RCV004980265] | uncertain significance | 3 | 45973163 | 45973163 | Human | 1 | name |
| 597670626 | CV3676898 | single nucleotide variant | NM_024513.4(FYCO1):c.377T>G (p.Met126Arg) | Inborn genetic diseases [RCV004980276] | uncertain significance | 3 | 45975257 | 45975257 | Human | 1 | name |
| 597902878 | CV3851539 | deletion | NM_024513.4(FYCO1):c.2308del (p.Gln770fs) | Cataract 18 [RCV005202316] | pathogenic | 3 | 45967026 | 45967026 | Human | 1 | name |
| 598228870 | CV3894778 | single nucleotide variant | NM_024513.4(FYCO1):c.402G>A (p.Trp134Ter) | Cataract 18 [RCV005257984] | pathogenic | 3 | 45973225 | 45973225 | Human | 1 | name |
| 598243894 | CV3966847 | single nucleotide variant | NM_024513.4(FYCO1):c.550A>G (p.Thr184Ala) | Inborn genetic diseases [RCV005344781] | likely benign | 3 | 45969755 | 45969755 | Human | 1 | name |
| 598243910 | CV3977197 | single nucleotide variant | NM_024513.4(FYCO1):c.589C>T (p.Arg197Cys) | Inborn genetic diseases [RCV005344784] | uncertain significance | 3 | 45969716 | 45969716 | Human | 1 | name |
| 598243916 | CV3977198 | single nucleotide variant | NM_024513.4(FYCO1):c.305G>A (p.Gly102Glu) | Inborn genetic diseases [RCV005344785] | uncertain significance | 3 | 45975329 | 45975329 | Human | 1 | name |
| 598243932 | CV3977202 | single nucleotide variant | NM_024513.4(FYCO1):c.961G>T (p.Gly321Cys) | Inborn genetic diseases [RCV005344789] | uncertain significance | 3 | 45968373 | 45968373 | Human | 1 | name |
| 13487341 | CV452427 | single nucleotide variant | NM_024513.4(FYCO1):c.4146C>T (p.Ala1382=) | Cataract 18 [RCV000554235]|not provided [RCV001556800] | benign|likely benign | 3 | 45931176 | 45931176 | Human | 1 | name |
| 13484267 | CV452983 | single nucleotide variant | NM_024513.4(FYCO1):c.4254C>A (p.Val1418=) | Cataract 18 [RCV000530260] | likely benign | 3 | 45923763 | 45923763 | Human | 1 | name |
| 13488363 | CV452987 | single nucleotide variant | NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile) | Cataract 18 [RCV000532319]|Inborn genetic diseases [RCV005328309] | uncertain significance | 3 | 45968702 | 45968702 | Human | 2 | name |
| 14711312 | CV631454 | deletion | NM_024513.4(FYCO1):c.2505del (p.Ala836fs) | Cataract 18 [RCV000817362] | pathogenic | 3 | 45966829 | 45966829 | Human | 1 | name |
| 14734005 | CV631456 | single nucleotide variant | NM_024513.4(FYCO1):c.854C>T (p.Ala285Val) | Cataract 18 [RCV000818937] | uncertain significance | 3 | 45968480 | 45968480 | Human | 1 | name |
| 14736920 | CV631457 | single nucleotide variant | NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu) | Cataract 18 [RCV000803817] | uncertain significance | 3 | 45973170 | 45973170 | Human | 1 | name |
| 15133554 | CV691422 | single nucleotide variant | NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=) | Cataract 18 [RCV001147927] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45955290 | 45955290 | Human | 1 | name |
| 15177066 | CV698115 | single nucleotide variant | NM_024513.4(FYCO1):c.4161C>A (p.Thr1387=) | Cataract 18 [RCV002066274] | likely benign | 3 | 45931161 | 45931161 | Human | 1 | name |
| 28877117 | CV859272 | single nucleotide variant | NM_024513.4(FYCO1):c.443C>T (p.Ser148Leu) | Cataract 18 [RCV001148251]|not provided [RCV001093067] | uncertain significance | 3 | 45973184 | 45973184 | Human | 1 | name |
| 28874069 | CV889063 | single nucleotide variant | NM_024513.4(FYCO1):c.3999G>T (p.Gly1333=) | Cataract 18 [RCV001147039] | uncertain significance | 3 | 45936489 | 45936489 | Human | 1 | name |
| 28876113 | CV889066 | single nucleotide variant | NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=) | Cataract 18 [RCV001147928] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 45955362 | 45955362 | Human | 1 | name |
| 28870464 | CV889086 | single nucleotide variant | NM_024513.4(FYCO1):c.844C>G (p.Arg282Gly) | Cataract 18 [RCV001145381] | uncertain significance | 3 | 45968490 | 45968490 | Human | 1 | name |
| 28870466 | CV889087 | single nucleotide variant | NM_024513.4(FYCO1):c.793G>A (p.Ala265Thr) | Cataract 18 [RCV001145382]|Inborn genetic diseases [RCV003293901] | uncertain significance | 3 | 45968541 | 45968541 | Human | 2 | name |
| 28877111 | CV889091 | single nucleotide variant | NM_024513.4(FYCO1):c.452T>C (p.Val151Ala) | Cataract 18 [RCV001148250]|not provided [RCV004694922] | uncertain significance | 3 | 45973175 | 45973175 | Human | 1 | name |
| 28877121 | CV889092 | single nucleotide variant | NM_024513.4(FYCO1):c.368A>C (p.Gln123Pro) | Cataract 18 [RCV001148252] | uncertain significance | 3 | 45975266 | 45975266 | Human | 1 | name |
| 28877126 | CV889093 | single nucleotide variant | NM_024513.4(FYCO1):c.337G>A (p.Val113Met) | Cataract 18 [RCV001148253]|Inborn genetic diseases [RCV003246728] | uncertain significance | 3 | 45975297 | 45975297 | Human | 2 | name |
| 151865546 | CV1357768 | deletion | NM_024513.4(FYCO1):c.3861del (p.Glu1287fs) | Cataract 18 [RCV001905836] | pathogenic | 3 | 45955332 | 45955332 | Human | 1 | name |
| 151725844 | CV1433362 | single nucleotide variant | NM_024513.4(FYCO1):c.1051C>G (p.Leu351Val) | Cataract 18 [RCV001983668] | uncertain significance | 3 | 45968283 | 45968283 | Human | 1 | name |
| 151804952 | CV1503520 | deletion | NM_024513.4(FYCO1):c.3161del (p.Ala1054fs) | Cataract 18 [RCV002011903] | pathogenic | 3 | 45964444 | 45964444 | Human | 1 | name |
| 151729743 | CV1515546 | single nucleotide variant | NM_024513.4(FYCO1):c.1171C>T (p.Pro391Ser) | Cataract 18 [RCV002041071] | uncertain significance | 3 | 45968163 | 45968163 | Human | 1 | name |
| 152033593 | CV1542733 | single nucleotide variant | NM_024513.4(FYCO1):c.1502A>G (p.Lys501Arg) | Cataract 18 [RCV002106604] | likely benign | 3 | 45967832 | 45967832 | Human | 1 | name |
| 156361278 | CV1874252 | single nucleotide variant | NM_024513.4(FYCO1):c.1535C>G (p.Thr512Ser) | Cataract 18 [RCV003071689]|Inborn genetic diseases [RCV003065633] | uncertain significance | 3 | 45967799 | 45967799 | Human | 2 | name |
| 156215610 | CV2015218 | single nucleotide variant | NM_024513.4(FYCO1):c.1675C>T (p.Pro559Ser) | Cataract 18 [RCV002700801] | benign | 3 | 45967659 | 45967659 | Human | 1 | name |
| 156024511 | CV2020020 | single nucleotide variant | NM_024513.4(FYCO1):c.1213G>C (p.Glu405Gln) | Cataract 18 [RCV002691160] | uncertain significance | 3 | 45968121 | 45968121 | Human | 1 | name |
| 156195504 | CV2223434 | single nucleotide variant | NM_024513.4(FYCO1):c.2360G>A (p.Arg787Gln) | Inborn genetic diseases [RCV002743110] | uncertain significance | 3 | 45966974 | 45966974 | Human | 1 | name |
| 156235960 | CV2224086 | single nucleotide variant | NM_024513.4(FYCO1):c.2885A>G (p.Gln962Arg) | Inborn genetic diseases [RCV002713068] | uncertain significance | 3 | 45966449 | 45966449 | Human | 1 | name |
| 155947174 | CV2234778 | single nucleotide variant | NM_024513.4(FYCO1):c.1471A>G (p.Arg491Gly) | Inborn genetic diseases [RCV002752633] | uncertain significance | 3 | 45967863 | 45967863 | Human | 1 | name |
| 156265083 | CV2275370 | single nucleotide variant | NM_024513.4(FYCO1):c.1372G>A (p.Glu458Lys) | Inborn genetic diseases [RCV002831957] | uncertain significance | 3 | 45967962 | 45967962 | Human | 1 | name |
| 156297739 | CV2297710 | single nucleotide variant | NM_024513.4(FYCO1):c.1885G>T (p.Val629Phe) | Inborn genetic diseases [RCV002879384] | uncertain significance | 3 | 45967449 | 45967449 | Human | 1 | name |
| 156241679 | CV2346933 | single nucleotide variant | NM_024513.4(FYCO1):c.2235G>C (p.Glu745Asp) | Inborn genetic diseases [RCV002987415] | uncertain significance | 3 | 45967099 | 45967099 | Human | 1 | name |
| 156110704 | CV2387682 | single nucleotide variant | NM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg) | Cataract 18 [RCV003526229]|Inborn genetic diseases [RCV002739692] | uncertain significance | 3 | 45966470 | 45966470 | Human | 2 | name |
| 155963894 | CV2395776 | single nucleotide variant | NM_024513.4(FYCO1):c.2125T>C (p.Cys709Arg) | Inborn genetic diseases [RCV002754266] | uncertain significance | 3 | 45967209 | 45967209 | Human | 1 | name |
| 329359632 | CV2446360 | single nucleotide variant | NM_024513.4(FYCO1):c.1993G>C (p.Ala665Pro) | Inborn genetic diseases [RCV003179521] | uncertain significance | 3 | 45967341 | 45967341 | Human | 1 | name |
| 329357527 | CV2453641 | single nucleotide variant | NM_024513.4(FYCO1):c.2072T>G (p.Met691Arg) | Inborn genetic diseases [RCV003203732] | uncertain significance | 3 | 45967262 | 45967262 | Human | 1 | name |
| 329394408 | CV2469855 | single nucleotide variant | NM_024513.4(FYCO1):c.1963G>A (p.Ala655Thr) | Inborn genetic diseases [RCV003218778] | uncertain significance | 3 | 45967371 | 45967371 | Human | 1 | name |
| 401867182 | CV2472817 | single nucleotide variant | NM_024513.4(FYCO1):c.1493A>C (p.Gln498Pro) | not provided [RCV003331514] | uncertain significance | 3 | 45967841 | 45967841 | Human | | name |
| 12911266 | CV247351 | single nucleotide variant | NM_024513.4(FYCO1):c.1538G>A (p.Arg513Gln) | Developmental cataract [RCV000490782] | benign | 3 | 45967796 | 45967796 | Human | 2 | name |
| 11552051 | CV251157 | single nucleotide variant | NM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys) | Cataract 18 [RCV000528598]|not provided [RCV001651251]|not specified [RCV000253867] | benign|likely benign | 3 | 45966354 | 45966354 | Human | 1 | name |
| 11548678 | CV251159 | single nucleotide variant | NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val) | Cataract 18 [RCV000390352]|not provided [RCV000836674]|not specified [RCV000249400] | benign | 3 | 45967298 | 45967298 | Human | 1 | name |
| 11544181 | CV251160 | single nucleotide variant | NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp) | Cataract 18 [RCV000533702]|not provided [RCV001573059]|not specified [RCV000243439] | benign|likely benign | 3 | 45967491 | 45967491 | Human | 1 | name |
| 11550337 | CV251161 | single nucleotide variant | NM_024513.4(FYCO1):c.1339C>T (p.Arg447Cys) | Cataract 18 [RCV000290339]|not provided [RCV000836726]|not specified [RCV000251621] | benign | 3 | 45967995 | 45967995 | Human | 1 | name |
| 401727345 | CV2684591 | single nucleotide variant | NM_024513.4(FYCO1):c.2653G>A (p.Glu885Lys) | Inborn genetic diseases [RCV003269995] | uncertain significance | 3 | 45966681 | 45966681 | Human | 1 | name |
| 401717802 | CV2704023 | single nucleotide variant | NM_024513.4(FYCO1):c.2974C>T (p.Leu992Phe) | Inborn genetic diseases [RCV003266264] | uncertain significance | 3 | 45966360 | 45966360 | Human | 1 | name |
| 401762434 | CV2714138 | single nucleotide variant | NM_024513.4(FYCO1):c.1657C>T (p.Leu553Phe) | Inborn genetic diseases [RCV003257883] | uncertain significance | 3 | 45967677 | 45967677 | Human | 1 | name |
| 401754286 | CV2717327 | single nucleotide variant | NM_024513.4(FYCO1):c.1915C>G (p.Leu639Val) | Inborn genetic diseases [RCV003296478] | uncertain significance | 3 | 45967419 | 45967419 | Human | 1 | name |
| 401754290 | CV2717328 | single nucleotide variant | NM_024513.4(FYCO1):c.1916T>G (p.Leu639Arg) | Inborn genetic diseases [RCV003296479] | uncertain significance | 3 | 45967418 | 45967418 | Human | 1 | name |
| 401752344 | CV2723203 | single nucleotide variant | NM_024513.4(FYCO1):c.1808C>A (p.Thr603Asn) | Inborn genetic diseases [RCV003295804] | uncertain significance | 3 | 45967526 | 45967526 | Human | 1 | name |
| 401857267 | CV2762537 | single nucleotide variant | NM_024513.4(FYCO1):c.1340G>A (p.Arg447His) | Inborn genetic diseases [RCV003341277] | likely benign | 3 | 45967994 | 45967994 | Human | 1 | name |
| 401907328 | CV2800194 | single nucleotide variant | NM_024513.4(FYCO1):c.1950G>C (p.Gln650His) | FYCO1-related disorder [RCV003397329]|Inborn genetic diseases [RCV004978833] | uncertain significance | 3 | 45967384 | 45967384 | Human | 2 | name , trait , alternate_id |
| 11585697 | CV290641 | single nucleotide variant | NM_024513.4(FYCO1):c.2399G>A (p.Arg800Gln) | Cataract 18 [RCV000282900] | uncertain significance | 3 | 45966935 | 45966935 | Human | 1 | name |
| 11597490 | CV290644 | single nucleotide variant | NM_024513.4(FYCO1):c.2179C>A (p.His727Asn) | Cataract 18 [RCV000550874]|not provided [RCV001691988] | benign|likely benign | 3 | 45967155 | 45967155 | Human | 1 | name |
| 11644993 | CV290645 | single nucleotide variant | NM_024513.4(FYCO1):c.1765G>A (p.Glu589Lys) | Cataract 18 [RCV000263160] | uncertain significance | 3 | 45967569 | 45967569 | Human | 1 | name |
| 11596330 | CV290663 | single nucleotide variant | NM_024513.4(FYCO1):c.1325G>A (p.Arg442Gln) | Cataract 18 [RCV000381154]|not provided [RCV004708786] | benign|uncertain significance | 3 | 45968009 | 45968009 | Human | 1 | name |
| 11587111 | CV290666 | single nucleotide variant | NM_024513.4(FYCO1):c.1142C>T (p.Thr381Met) | Cataract 18 [RCV000872353]|not provided [RCV002469136] | benign|likely benign|uncertain significance | 3 | 45968192 | 45968192 | Human | 1 | name |
| 11593489 | CV290670 | single nucleotide variant | NM_024513.4(FYCO1):c.1121T>C (p.Met374Thr) | Cataract 18 [RCV000349568] | uncertain significance | 3 | 45968213 | 45968213 | Human | 1 | name |
| 11644900 | CV291554 | single nucleotide variant | NM_024513.4(FYCO1):c.2932C>G (p.Leu978Val) | Cataract 18 [RCV000262622] | uncertain significance | 3 | 45966402 | 45966402 | Human | 1 | name |
| 11596264 | CV291555 | single nucleotide variant | NM_024513.4(FYCO1):c.2552G>A (p.Arg851His) | Cataract 18 [RCV000380432] | uncertain significance | 3 | 45966782 | 45966782 | Human | 1 | name |
| 11595415 | CV291564 | single nucleotide variant | NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe) | Cataract 18 [RCV000870596]|FYCO1-related disorder [RCV003932396]|not provided [RCV001573107]|not specified [RCV001727697] | benign|likely benign|uncertain significance | 3 | 45967349 | 45967349 | Human | 1 | name , trait , alternate_id |
| 11583455 | CV291572 | single nucleotide variant | NM_024513.4(FYCO1):c.1549T>A (p.Phe517Ile) | Cataract 18 [RCV000266931] | uncertain significance | 3 | 45967785 | 45967785 | Human | 1 | name |
| 11590979 | CV291589 | single nucleotide variant | NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp) | Cataract 18 [RCV001085929]|FYCO1-related disorder [RCV003922511]|not provided [RCV000828433] | benign|likely benign|uncertain significance | 3 | 45967860 | 45967860 | Human | 1 | name , trait , alternate_id |
| 11588124 | CV291603 | single nucleotide variant | NM_024513.4(FYCO1):c.1015C>G (p.Arg339Gly) | Developmental cataract [RCV000300427] | uncertain significance | 3 | 45968319 | 45968319 | Human | 2 | name |
| 11590549 | CV294766 | single nucleotide variant | NM_024513.4(FYCO1):c.2815G>C (p.Ala939Pro) | Cataract 18 [RCV000320113]|Inborn genetic diseases [RCV002523258]|not provided [RCV004694750] | uncertain significance | 3 | 45966519 | 45966519 | Human | 2 | name |
| 11592581 | CV294770 | single nucleotide variant | NM_024513.4(FYCO1):c.2200G>C (p.Glu734Gln) | Cataract 18 [RCV000340283] | uncertain significance | 3 | 45967134 | 45967134 | Human | 1 | name |
| 11589771 | CV294772 | single nucleotide variant | NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn) | Cataract 18 [RCV000870595]|not provided [RCV001573912]|not specified [RCV001727696] | benign|likely benign|uncertain significance | 3 | 45967328 | 45967328 | Human | 1 | name |
| 11584394 | CV294775 | single nucleotide variant | NM_024513.4(FYCO1):c.1933G>A (p.Asp645Asn) | Cataract 18 [RCV000273673]|Inborn genetic diseases [RCV003168523] | uncertain significance | 3 | 45967401 | 45967401 | Human | 2 | name |
| 11590120 | CV294776 | single nucleotide variant | NM_024513.4(FYCO1):c.1676C>T (p.Pro559Leu) | Cataract 18 [RCV000316052]|Inborn genetic diseases [RCV004021916] | uncertain significance | 3 | 45967658 | 45967658 | Human | 2 | name |
| 11663311 | CV294780 | single nucleotide variant | NM_024513.4(FYCO1):c.1144G>A (p.Ala382Thr) | Cataract 18 [RCV000394803] | uncertain significance | 3 | 45968190 | 45968190 | Human | 1 | name |
| 11595616 | CV295168 | single nucleotide variant | NM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr) | Cataract 18 [RCV000372365]|FYCO1-related disorder [RCV003912454]|not provided [RCV000877577] | benign|likely benign|uncertain significance | 3 | 45966528 | 45966528 | Human | 1 | name , trait , alternate_id |
| 405279331 | CV3219648 | single nucleotide variant | NM_024513.4(FYCO1):c.1990G>T (p.Glu664Ter) | FYCO1-related disorder [RCV003954892] | likely pathogenic | 3 | 45967344 | 45967344 | Human | | name , trait , alternate_id |
| 405731463 | CV3257760 | single nucleotide variant | NM_024513.4(FYCO1):c.1061C>T (p.Thr354Ile) | Inborn genetic diseases [RCV004389933] | uncertain significance | 3 | 45968273 | 45968273 | Human | 1 | name |
| 405731440 | CV3257763 | single nucleotide variant | NM_024513.4(FYCO1):c.1621C>A (p.Gln541Lys) | Inborn genetic diseases [RCV004389936] | uncertain significance | 3 | 45967713 | 45967713 | Human | 1 | name |
| 405731436 | CV3257764 | single nucleotide variant | NM_024513.4(FYCO1):c.2455G>A (p.Val819Ile) | Inborn genetic diseases [RCV004389937] | uncertain significance | 3 | 45966879 | 45966879 | Human | 1 | name |
| 405731427 | CV3257765 | single nucleotide variant | NM_024513.4(FYCO1):c.2581G>A (p.Asp861Asn) | Inborn genetic diseases [RCV004389938] | uncertain significance | 3 | 45966753 | 45966753 | Human | 1 | name |
| 405731419 | CV3257766 | single nucleotide variant | NM_024513.4(FYCO1):c.2699G>A (p.Arg900Gln) | Inborn genetic diseases [RCV004389939] | uncertain significance | 3 | 45966635 | 45966635 | Human | 1 | name |
| 407455658 | CV3415686 | deletion | NM_024513.4(FYCO1):c.3536del (p.Cys1179fs) | Susceptibility to severe COVID-19 [RCV004598563] | likely pathogenic | 3 | 45959444 | 45959444 | Human | | name |
| 407485391 | CV3439439 | single nucleotide variant | NM_024513.4(FYCO1):c.1012C>T (p.Arg338Trp) | Inborn genetic diseases [RCV004618908] | uncertain significance | 3 | 45968322 | 45968322 | Human | 1 | name |
| 407485396 | CV3439440 | single nucleotide variant | NM_024513.4(FYCO1):c.1060A>G (p.Thr354Ala) | Inborn genetic diseases [RCV004618909] | likely benign | 3 | 45968274 | 45968274 | Human | 1 | name |
| 407485401 | CV3439441 | single nucleotide variant | NM_024513.4(FYCO1):c.2177G>A (p.Arg726Gln) | Inborn genetic diseases [RCV004618910] | uncertain significance | 3 | 45967157 | 45967157 | Human | 1 | name |
| 407485412 | CV3439443 | single nucleotide variant | NM_024513.4(FYCO1):c.1163G>A (p.Arg388Gln) | Inborn genetic diseases [RCV004618912] | likely benign | 3 | 45968171 | 45968171 | Human | 1 | name |
| 407485422 | CV3439445 | single nucleotide variant | NM_024513.4(FYCO1):c.1988T>C (p.Leu663Pro) | Inborn genetic diseases [RCV004618914] | uncertain significance | 3 | 45967346 | 45967346 | Human | 1 | name |
| 407485428 | CV3439447 | single nucleotide variant | NM_024513.4(FYCO1):c.2264G>C (p.Gly755Ala) | Inborn genetic diseases [RCV004618916] | uncertain significance | 3 | 45967070 | 45967070 | Human | 1 | name |
| 407485433 | CV3439448 | single nucleotide variant | NM_024513.4(FYCO1):c.2401G>C (p.Ala801Pro) | Inborn genetic diseases [RCV004618917] | uncertain significance | 3 | 45966933 | 45966933 | Human | 1 | name |
| 408383451 | CV3518297 | single nucleotide variant | NM_024513.4(FYCO1):c.2386C>T (p.Gln796Ter) | Cataract 18 [RCV004759620] | pathogenic | 3 | 45966948 | 45966948 | Human | 1 | name |
| 597670538 | CV3676877 | single nucleotide variant | NM_024513.4(FYCO1):c.2176C>T (p.Arg726Trp) | Inborn genetic diseases [RCV004980262] | uncertain significance | 3 | 45967158 | 45967158 | Human | 1 | name |
| 597670561 | CV3676882 | single nucleotide variant | NM_024513.4(FYCO1):c.1337A>G (p.Glu446Gly) | Inborn genetic diseases [RCV004980266] | uncertain significance | 3 | 45967997 | 45967997 | Human | 1 | name |
| 597670568 | CV3676883 | single nucleotide variant | NM_024513.4(FYCO1):c.2164C>G (p.Leu722Val) | Inborn genetic diseases [RCV004980267] | uncertain significance | 3 | 45967170 | 45967170 | Human | 1 | name |
| 597670574 | CV3676884 | single nucleotide variant | NM_024513.4(FYCO1):c.2173G>A (p.Ala725Thr) | Inborn genetic diseases [RCV004980268] | uncertain significance | 3 | 45967161 | 45967161 | Human | 1 | name |
| 597670581 | CV3676885 | single nucleotide variant | NM_024513.4(FYCO1):c.2122G>A (p.Glu708Lys) | Inborn genetic diseases [RCV004980269] | uncertain significance | 3 | 45967212 | 45967212 | Human | 1 | name |
| 597670586 | CV3676886 | single nucleotide variant | NM_024513.4(FYCO1):c.2276C>T (p.Pro759Leu) | Inborn genetic diseases [RCV004980270] | uncertain significance | 3 | 45967058 | 45967058 | Human | 1 | name |
| 597682748 | CV3676888 | single nucleotide variant | NM_024513.4(FYCO1):c.1609A>C (p.Lys537Gln) | Inborn genetic diseases [RCV004983600] | uncertain significance | 3 | 45967725 | 45967725 | Human | 1 | name |
| 597670592 | CV3676889 | single nucleotide variant | NM_024513.4(FYCO1):c.2546C>T (p.Ser849Leu) | Inborn genetic diseases [RCV004980271] | uncertain significance | 3 | 45966788 | 45966788 | Human | 1 | name |
| 597682765 | CV3676893 | single nucleotide variant | NM_024513.4(FYCO1):c.1766A>G (p.Glu589Gly) | Inborn genetic diseases [RCV004983602] | uncertain significance | 3 | 45967568 | 45967568 | Human | 1 | name |
| 597670613 | CV3676896 | single nucleotide variant | NM_024513.4(FYCO1):c.2314G>A (p.Ala772Thr) | Inborn genetic diseases [RCV004980274] | uncertain significance | 3 | 45967020 | 45967020 | Human | 1 | name |
| 597670620 | CV3676897 | single nucleotide variant | NM_024513.4(FYCO1):c.2639C>G (p.Ala880Gly) | Inborn genetic diseases [RCV004980275] | uncertain significance | 3 | 45966695 | 45966695 | Human | 1 | name |
| 597670645 | CV3676901 | single nucleotide variant | NM_024513.4(FYCO1):c.1077C>G (p.Asp359Glu) | Inborn genetic diseases [RCV004980279] | uncertain significance | 3 | 45968257 | 45968257 | Human | 1 | name |
| 597670658 | CV3676904 | single nucleotide variant | NM_024513.4(FYCO1):c.2599G>C (p.Glu867Gln) | Inborn genetic diseases [RCV004980281] | uncertain significance | 3 | 45966735 | 45966735 | Human | 1 | name |
| 597670664 | CV3676905 | single nucleotide variant | NM_024513.4(FYCO1):c.2789T>C (p.Val930Ala) | Inborn genetic diseases [RCV004980282] | uncertain significance | 3 | 45966545 | 45966545 | Human | 1 | name |
| 597838936 | CV3824865 | single nucleotide variant | NM_024513.4(FYCO1):c.1410G>A (p.Trp470Ter) | Cataract 18 [RCV005171729] | pathogenic | 3 | 45967924 | 45967924 | Human | 1 | name |
| 597940522 | CV3836710 | single nucleotide variant | NM_024513.4(FYCO1):c.2947G>A (p.Ala983Thr) | Cataract 18 [RCV005187730] | uncertain significance | 3 | 45966387 | 45966387 | Human | 1 | name |
| 597923054 | CV3839898 | single nucleotide variant | NM_024513.4(FYCO1):c.2762G>A (p.Arg921Gln) | Cataract 18 [RCV005184637] | uncertain significance | 3 | 45966572 | 45966572 | Human | 1 | name |
| 8602286 | CV39602 | single nucleotide variant | NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) | Cataract 18 [RCV000023620] | pathogenic | 3 | 45968289 | 45968289 | Human | 1 | name |
| 8602287 | CV39603 | single nucleotide variant | NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter) | Cataract 18 [RCV000023621] | pathogenic | 3 | 45967128 | 45967128 | Human | 1 | name |
| 8602289 | CV39607 | single nucleotide variant | NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter) | Cataract 18 [RCV000023625] | pathogenic | 3 | 45967788 | 45967788 | Human | 1 | name |
| 598243879 | CV3966844 | single nucleotide variant | NM_024513.4(FYCO1):c.2302G>T (p.Ala768Ser) | Inborn genetic diseases [RCV005344778] | uncertain significance | 3 | 45967032 | 45967032 | Human | 1 | name |
| 598243890 | CV3966846 | single nucleotide variant | NM_024513.4(FYCO1):c.1864G>A (p.Glu622Lys) | Inborn genetic diseases [RCV005344780] | uncertain significance | 3 | 45967470 | 45967470 | Human | 1 | name |
| 598243899 | CV3966848 | single nucleotide variant | NM_024513.4(FYCO1):c.2285A>G (p.Asn762Ser) | Inborn genetic diseases [RCV005344782] | uncertain significance | 3 | 45967049 | 45967049 | Human | 1 | name |
| 598243904 | CV3966849 | single nucleotide variant | NM_024513.4(FYCO1):c.1414C>T (p.Arg472Trp) | Inborn genetic diseases [RCV005344783] | uncertain significance | 3 | 45967920 | 45967920 | Human | 1 | name |
| 598243918 | CV3977199 | single nucleotide variant | NM_024513.4(FYCO1):c.1889G>A (p.Gly630Glu) | Inborn genetic diseases [RCV005344786] | likely benign | 3 | 45967445 | 45967445 | Human | 1 | name |
| 13470391 | CV452434 | single nucleotide variant | NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met) | Cataract 18 [RCV001147244]|FYCO1-related disorder [RCV003942816]|not provided [RCV000828289] | benign|likely benign | 3 | 45967895 | 45967895 | Human | 1 | name , trait , alternate_id |
| 13503859 | CV452656 | single nucleotide variant | NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg) | Cataract 18 [RCV000547674]|Inborn genetic diseases [RCV004619327] | uncertain significance | 3 | 45966644 | 45966644 | Human | 2 | name |
| 13477141 | CV452660 | single nucleotide variant | NM_024513.4(FYCO1):c.2294G>A (p.Arg765His) | Cataract 18 [RCV000527004]|FYCO1-related disorder [RCV003962536]|not provided [RCV001591244] | benign|likely benign | 3 | 45967040 | 45967040 | Human | 1 | name , trait , alternate_id |
| 13492237 | CV452742 | single nucleotide variant | NM_024513.4(FYCO1):c.1063C>T (p.Arg355Trp) | Cataract 18 [RCV000557289]|not provided [RCV001539061] | benign|likely benign | 3 | 45968271 | 45968271 | Human | 1 | name |
| 13483815 | CV452985 | single nucleotide variant | NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) | Cataract 18 [RCV000552469] | uncertain significance | 3 | 45966477 | 45966477 | Human | 1 | name |
| 13616540 | CV519353 | single nucleotide variant | NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp) | Cataract 18 [RCV000644758] | uncertain significance | 3 | 45967482 | 45967482 | Human | 1 | name |
| 13616538 | CV519554 | single nucleotide variant | NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys) | Cataract 18 [RCV000644757]|Inborn genetic diseases [RCV002528911] | uncertain significance | 3 | 45968082 | 45968082 | Human | 2 | name |
| 14740301 | CV631455 | single nucleotide variant | NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) | Cataract 18 [RCV000805309]|Inborn genetic diseases [RCV004028214] | uncertain significance | 3 | 45967797 | 45967797 | Human | 2 | name |
| 15017051 | CV681803 | single nucleotide variant | NM_024513.4(FYCO1):c.1621C>T (p.Gln541Ter) | Cataract 18 [RCV000855400] | likely pathogenic | 3 | 45967713 | 45967713 | Human | 1 | name |
| 15103067 | CV698119 | single nucleotide variant | NM_024513.4(FYCO1):c.2749G>A (p.Val917Met) | Inborn genetic diseases [RCV002547268]|not provided [RCV000959405] | benign|likely benign | 3 | 45966585 | 45966585 | Human | 1 | name |
| 15121793 | CV748281 | single nucleotide variant | NM_024513.4(FYCO1):c.2917G>A (p.Gly973Ser) | not provided [RCV000918541] | likely benign | 3 | 45966417 | 45966417 | Human | | name |
| 26898133 | CV828188 | single nucleotide variant | NM_024513.4(FYCO1):c.2966C>T (p.Ala989Val) | Cataract 18 [RCV001035620]|Inborn genetic diseases [RCV005328466] | uncertain significance | 3 | 45966368 | 45966368 | Human | 2 | name |
| 28876444 | CV889074 | single nucleotide variant | NM_024513.4(FYCO1):c.2780C>T (p.Ala927Val) | Cataract 18 [RCV001148035] | uncertain significance | 3 | 45966554 | 45966554 | Human | 1 | name |
| 28876448 | CV889075 | single nucleotide variant | NM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln) | Cataract 18 [RCV001148036]|FYCO1-related disorder [RCV003928748]|Inborn genetic diseases [RCV002557171] | benign|likely benign | 3 | 45966722 | 45966722 | Human | 2 | name , trait , alternate_id |
| 28876453 | CV889076 | single nucleotide variant | NM_024513.4(FYCO1):c.2507C>A (p.Ala836Asp) | Cataract 18 [RCV001148037] | uncertain significance | 3 | 45966827 | 45966827 | Human | 1 | name |
| 28876458 | CV889077 | single nucleotide variant | NM_024513.4(FYCO1):c.2455G>T (p.Val819Phe) | Cataract 18 [RCV001148038] | uncertain significance | 3 | 45966879 | 45966879 | Human | 1 | name |
| 28881307 | CV889078 | single nucleotide variant | NM_024513.4(FYCO1):c.2433C>G (p.Ser811Arg) | Cataract 18 [RCV001149586] | uncertain significance | 3 | 45966901 | 45966901 | Human | 1 | name |
| 28881310 | CV889079 | single nucleotide variant | NM_024513.4(FYCO1):c.2389G>A (p.Ala797Thr) | Cataract 18 [RCV001149587] | uncertain significance | 3 | 45966945 | 45966945 | Human | 1 | name |
| 28881314 | CV889080 | single nucleotide variant | NM_024513.4(FYCO1):c.2359C>T (p.Arg787Trp) | Cataract 18 [RCV001149588] | uncertain significance | 3 | 45966975 | 45966975 | Human | 1 | name |
| 28874499 | CV889082 | single nucleotide variant | NM_024513.4(FYCO1):c.1826G>T (p.Ser609Ile) | Cataract 18 [RCV001147242] | uncertain significance | 3 | 45967508 | 45967508 | Human | 1 | name |
| 28874502 | CV889083 | single nucleotide variant | NM_024513.4(FYCO1):c.1651G>T (p.Gly551Cys) | Cataract 18 [RCV001147243] | uncertain significance | 3 | 45967683 | 45967683 | Human | 1 | name |
| 28881646 | CV889084 | single nucleotide variant | NM_024513.4(FYCO1):c.1016G>A (p.Arg339Gln) | Cataract 18 [RCV001149693]|not provided [RCV004709036] | benign | 3 | 45968318 | 45968318 | Human | 1 | name |
| 38478913 | CV943571 | single nucleotide variant | NM_024513.4(FYCO1):c.1357G>A (p.Ala453Thr) | Cataract 18 [RCV001234089] | uncertain significance | 3 | 45967977 | 45967977 | Human | 1 | name |
| 40815106 | CV970768 | single nucleotide variant | NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter) | Cataract 18 [RCV001262442] | pathogenic | 3 | 45967923 | 45967923 | Human | 1 | name |
| 126729905 | CV1004785 | single nucleotide variant | NM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu) | Cataract 18 [RCV001312773]|Inborn genetic diseases [RCV002545050] | uncertain significance | 3 | 45955369 | 45955369 | Human | 2 | name |
| 126733235 | CV1025315 | single nucleotide variant | NM_024513.4(FYCO1):c.4219G>A (p.Glu1407Lys) | Cataract 18 [RCV001349743] | uncertain significance | 3 | 45931103 | 45931103 | Human | 1 | name |
| 127315804 | CV1114029 | single nucleotide variant | NM_024513.4(FYCO1):c.3215C>T (p.Ala1072Val) | Cataract 18 [RCV001465325] | likely benign | 3 | 45964390 | 45964390 | Human | 1 | name |
| 151349108 | CV1170190 | single nucleotide variant | NM_024513.4(FYCO1):c.3330C>A (p.Cys1110Ter) | Abnormality of the eye [RCV001814428]|Cataract 18 [RCV005094751] | pathogenic|likely pathogenic | 3 | 45962332 | 45962332 | Human | 3 | name |
| 150424011 | CV1183355 | single nucleotide variant | NM_024513.4(FYCO1):c.3307C>T (p.Gln1103Ter) | not provided [RCV001556091] | pathogenic | 3 | 45962355 | 45962355 | Human | | name |
| 151738852 | CV1379262 | single nucleotide variant | NM_024513.4(FYCO1):c.3574C>T (p.Arg1192Trp) | Cataract 18 [RCV001911726] | uncertain significance | 3 | 45959406 | 45959406 | Human | 1 | name |
| 151769215 | CV1411253 | single nucleotide variant | NM_024513.4(FYCO1):c.4280C>T (p.Ser1427Phe) | Cataract 18 [RCV002045079] | uncertain significance | 3 | 45923737 | 45923737 | Human | 1 | name |
| 151822848 | CV1448323 | single nucleotide variant | NM_024513.4(FYCO1):c.4104T>G (p.Phe1368Leu) | Cataract 18 [RCV001934312]|Inborn genetic diseases [RCV002562156] | uncertain significance | 3 | 45931218 | 45931218 | Human | 2 | name |
| 151809299 | CV1477979 | single nucleotide variant | NM_024513.4(FYCO1):c.3322A>T (p.Lys1108Ter) | Cataract 18 [RCV001953655] | pathogenic | 3 | 45962340 | 45962340 | Human | 1 | name |
| 155940152 | CV2037921 | single nucleotide variant | NM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr) | Cataract 18 [RCV002775135]|FYCO1-related disorder [RCV003903770]|Inborn genetic diseases [RCV004973594] | likely benign|uncertain significance | 3 | 45962237 | 45962237 | Human | 2 | name , trait , alternate_id |
| 156213322 | CV2080216 | single nucleotide variant | NM_024513.4(FYCO1):c.3286G>A (p.Glu1096Lys) | Cataract 18 [RCV002875568] | uncertain significance | 3 | 45962376 | 45962376 | Human | 1 | name |
| 156281525 | CV2220567 | single nucleotide variant | NM_024513.4(FYCO1):c.3925G>A (p.Asp1309Asn) | Inborn genetic diseases [RCV002747131] | uncertain significance | 3 | 45955268 | 45955268 | Human | 1 | name |
| 156076688 | CV2230231 | single nucleotide variant | NM_024513.4(FYCO1):c.4171G>T (p.Val1391Phe) | Inborn genetic diseases [RCV002737676] | uncertain significance | 3 | 45931151 | 45931151 | Human | 1 | name |
| 156126440 | CV2234368 | single nucleotide variant | NM_024513.4(FYCO1):c.3292G>T (p.Ala1098Ser) | Inborn genetic diseases [RCV002762643] | uncertain significance | 3 | 45962370 | 45962370 | Human | 1 | name |
| 156072986 | CV2299130 | single nucleotide variant | NM_024513.4(FYCO1):c.3908C>T (p.Thr1303Ile) | Inborn genetic diseases [RCV002886988] | uncertain significance | 3 | 45955285 | 45955285 | Human | 1 | name |
| 155905334 | CV2303086 | single nucleotide variant | NM_024513.4(FYCO1):c.3820C>A (p.Pro1274Thr) | Inborn genetic diseases [RCV002901700] | uncertain significance | 3 | 45955373 | 45955373 | Human | 1 | name |
| 156361207 | CV2326425 | single nucleotide variant | NM_024513.4(FYCO1):c.4076G>C (p.Ser1359Thr) | Inborn genetic diseases [RCV002941371] | uncertain significance | 3 | 45931246 | 45931246 | Human | 1 | name |
| 156052812 | CV2385375 | single nucleotide variant | NM_024513.4(FYCO1):c.3908C>G (p.Thr1303Ser) | Inborn genetic diseases [RCV002705052] | uncertain significance | 3 | 45955285 | 45955285 | Human | 1 | name |
| 156253994 | CV2397496 | single nucleotide variant | NM_024513.4(FYCO1):c.3292G>A (p.Ala1098Thr) | Inborn genetic diseases [RCV002769042] | uncertain significance | 3 | 45962370 | 45962370 | Human | 1 | name |
| 156004708 | CV2401013 | single nucleotide variant | NM_024513.4(FYCO1):c.3836T>A (p.Val1279Glu) | Inborn genetic diseases [RCV002779697] | uncertain significance | 3 | 45955357 | 45955357 | Human | 1 | name |
| 329401667 | CV2457291 | single nucleotide variant | NM_024513.4(FYCO1):c.4345G>A (p.Asp1449Asn) | Inborn genetic diseases [RCV003198704] | uncertain significance | 3 | 45923672 | 45923672 | Human | 1 | name |
| 329360571 | CV2458847 | single nucleotide variant | NM_024513.4(FYCO1):c.3036G>T (p.Met1012Ile) | Inborn genetic diseases [RCV003205074] | uncertain significance | 3 | 45966298 | 45966298 | Human | 1 | name |
| 11549214 | CV251152 | single nucleotide variant | NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) | Cataract 18 [RCV000541190]|not provided [RCV001572887]|not specified [RCV000250120] | benign|likely benign | 3 | 45962243 | 45962243 | Human | 6 | name |
| 11549214 | CV251152 | single nucleotide variant | NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) | Cataract 18 [RCV000541190]|not provided [RCV001572887]|not specified [RCV000250120] | benign|likely benign | 3 | 45962243 | 45962244 | Human | 6 | name |
| 11552128 | CV251154 | single nucleotide variant | NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys) | Cataract 18 [RCV000370197]|not provided [RCV000836729]|not specified [RCV000253960] | benign | 3 | 45966331 | 45966331 | Human | 3 | name |
| 11552128 | CV251154 | single nucleotide variant | NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys) | Cataract 18 [RCV000370197]|not provided [RCV000836729]|not specified [RCV000253960] | benign | 3 | 45966331 | 45966332 | Human | 3 | name |
| 11548509 | CV251156 | single nucleotide variant | NM_024513.4(FYCO1):c.3001A>G (p.Asn1001Asp) | Cataract 18 [RCV000330739]|not provided [RCV000836728]|not specified [RCV000249183] | benign | 3 | 45966333 | 45966333 | Human | 1 | name |
| 329846562 | CV2523786 | single nucleotide variant | NM_024513.4(FYCO1):c.3456G>A (p.Trp1152Ter) | Cataract 18 [RCV003226076]|not provided [RCV003435999] | likely pathogenic | 3 | 45959524 | 45959524 | Human | 1 | name |
| 401744559 | CV2697026 | single nucleotide variant | NM_024513.4(FYCO1):c.3494G>A (p.Ser1165Asn) | Inborn genetic diseases [RCV003241610] | uncertain significance | 3 | 45959486 | 45959486 | Human | 1 | name |
| 401860840 | CV2758656 | single nucleotide variant | NM_024513.4(FYCO1):c.3347G>A (p.Arg1116His) | Inborn genetic diseases [RCV003342361]|not specified [RCV003988111] | uncertain significance | 3 | 45962315 | 45962315 | Human | 1 | name |
| 401877416 | CV2769447 | single nucleotide variant | NM_024513.4(FYCO1):c.3832G>A (p.Ala1278Thr) | Inborn genetic diseases [RCV003348414] | uncertain significance | 3 | 45955361 | 45955361 | Human | 1 | name |
| 401894868 | CV2781959 | single nucleotide variant | NM_024513.4(FYCO1):c.3283C>G (p.Leu1095Val) | Inborn genetic diseases [RCV003371954] | uncertain significance | 3 | 45962379 | 45962379 | Human | 1 | name |
| 401894800 | CV2785295 | single nucleotide variant | NM_024513.4(FYCO1):c.4154G>A (p.Gly1385Asp) | Inborn genetic diseases [RCV003371862] | uncertain significance | 3 | 45931168 | 45931168 | Human | 1 | name |
| 401921190 | CV2797915 | single nucleotide variant | NM_024513.4(FYCO1):c.3670C>T (p.Arg1224Ter) | FYCO1-related disorder [RCV003402847] | pathogenic | 3 | 45958537 | 45958537 | Human | | name , trait , alternate_id |
| 401922209 | CV2827319 | single nucleotide variant | NM_024513.4(FYCO1):c.4007C>T (p.Ser1336Leu) | not provided [RCV003433543] | uncertain significance | 3 | 45936481 | 45936481 | Human | | name |
| 404997057 | CV2870865 | single nucleotide variant | NM_024513.4(FYCO1):c.3367A>G (p.Met1123Val) | Cataract 18 [RCV003525727] | uncertain significance | 3 | 45962295 | 45962295 | Human | 1 | name |
| 405005592 | CV2873701 | single nucleotide variant | NM_024513.4(FYCO1):c.4324G>A (p.Gly1442Ser) | Cataract 18 [RCV003526755] | uncertain significance | 3 | 45923693 | 45923693 | Human | 1 | name |
| 11591798 | CV290635 | single nucleotide variant | NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile) | Cataract 18 [RCV000332284]|Inborn genetic diseases [RCV002520125]|not provided [RCV000842474] | benign|likely benign|uncertain significance | 3 | 45923698 | 45923698 | Human | 2 | name |
| 11650317 | CV290636 | single nucleotide variant | NM_024513.4(FYCO1):c.4078T>C (p.Phe1360Leu) | Cataract 18 [RCV000292312] | uncertain significance | 3 | 45931244 | 45931244 | Human | 1 | name |
| 11660367 | CV290638 | single nucleotide variant | NM_024513.4(FYCO1):c.3413A>G (p.Glu1138Gly) | Cataract 18 [RCV000366522] | uncertain significance | 3 | 45962249 | 45962249 | Human | 1 | name |
| 11589165 | CV290640 | single nucleotide variant | NM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu) | Cataract 18 [RCV000872717] | benign|uncertain significance | 3 | 45964371 | 45964371 | Human | 1 | name |
| 11596326 | CV291543 | single nucleotide variant | NM_024513.4(FYCO1):c.4394C>T (p.Thr1465Met) | Cataract 18 [RCV000381096]|not provided [RCV001566264] | uncertain significance | 3 | 45921808 | 45921808 | Human | 1 | name |
| 11658504 | CV291545 | single nucleotide variant | NM_024513.4(FYCO1):c.4042A>G (p.Ile1348Val) | Cataract 18 [RCV000349623] | uncertain significance | 3 | 45931280 | 45931280 | Human | 1 | name |
| 11583951 | CV295160 | single nucleotide variant | NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr) | Cataract 18 [RCV000270247]|not provided [RCV001723944] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 45923696 | 45923696 | Human | 1 | name |
| 11585536 | CV295162 | single nucleotide variant | NM_024513.4(FYCO1):c.3935C>T (p.Ala1312Val) | Cataract 18 [RCV000281854] | uncertain significance | 3 | 45955258 | 45955258 | Human | 1 | name |
| 11583838 | CV295167 | single nucleotide variant | NM_024513.4(FYCO1):c.3322A>G (p.Lys1108Glu) | Cataract 18 [RCV000870643]|not provided [RCV004710950] | likely benign|uncertain significance | 3 | 45962340 | 45962340 | Human | 1 | name |
| 405200478 | CV3061548 | single nucleotide variant | NM_024513.4(FYCO1):c.3968C>T (p.Thr1323Met) | Cataract 18 [RCV003642103] | likely benign | 3 | 45936520 | 45936520 | Human | 1 | name |
| 405262016 | CV3194354 | single nucleotide variant | NM_024513.4(FYCO1):c.4270C>T (p.Arg1424Ter) | FYCO1-related disorder [RCV003896386]|Inborn genetic diseases [RCV004981135] | pathogenic | 3 | 45923747 | 45923747 | Human | 2 | name , trait , alternate_id |
| 405731403 | CV3257768 | single nucleotide variant | NM_024513.4(FYCO1):c.3016C>A (p.Gln1006Lys) | Inborn genetic diseases [RCV004389941] | uncertain significance | 3 | 45966318 | 45966318 | Human | 1 | name |
| 405731395 | CV3257769 | single nucleotide variant | NM_024513.4(FYCO1):c.3426A>G (p.Ile1142Met) | Inborn genetic diseases [RCV004389942] | uncertain significance | 3 | 45962236 | 45962236 | Human | 1 | name |
| 405731145 | CV3257770 | single nucleotide variant | NM_024513.4(FYCO1):c.3958A>G (p.Thr1320Ala) | Inborn genetic diseases [RCV004389943] | uncertain significance | 3 | 45936530 | 45936530 | Human | 1 | name |
| 405730751 | CV3257772 | single nucleotide variant | NM_024513.4(FYCO1):c.4301G>A (p.Gly1434Asp) | Inborn genetic diseases [RCV004389945] | uncertain significance | 3 | 45923716 | 45923716 | Human | 1 | name |
| 407485408 | CV3439442 | single nucleotide variant | NM_024513.4(FYCO1):c.3994G>A (p.Val1332Met) | Inborn genetic diseases [RCV004618911] | uncertain significance | 3 | 45936494 | 45936494 | Human | 1 | name |
| 407485437 | CV3439449 | single nucleotide variant | NM_024513.4(FYCO1):c.4296C>G (p.Ile1432Met) | Inborn genetic diseases [RCV004618918] | uncertain significance | 3 | 45923721 | 45923721 | Human | 1 | name |
| 597670544 | CV3676878 | single nucleotide variant | NM_024513.4(FYCO1):c.3551G>A (p.Arg1184Gln) | Inborn genetic diseases [RCV004980263] | uncertain significance | 3 | 45959429 | 45959429 | Human | 1 | name |
| 597670599 | CV3676894 | single nucleotide variant | NM_024513.4(FYCO1):c.4111T>C (p.Ser1371Pro) | Inborn genetic diseases [RCV004980272] | uncertain significance | 3 | 45931211 | 45931211 | Human | 1 | name |
| 597670606 | CV3676895 | single nucleotide variant | NM_024513.4(FYCO1):c.4121A>T (p.Tyr1374Phe) | Inborn genetic diseases [RCV004980273] | uncertain significance | 3 | 45931201 | 45931201 | Human | 1 | name |
| 597670634 | CV3676899 | single nucleotide variant | NM_024513.4(FYCO1):c.3103C>G (p.Gln1035Glu) | Inborn genetic diseases [RCV004980277] | uncertain significance | 3 | 45965080 | 45965080 | Human | 1 | name |
| 597670641 | CV3676900 | single nucleotide variant | NM_024513.4(FYCO1):c.3579C>G (p.His1193Gln) | Inborn genetic diseases [RCV004980278] | uncertain significance | 3 | 45959401 | 45959401 | Human | 1 | name |
| 597670651 | CV3676903 | single nucleotide variant | NM_024513.4(FYCO1):c.4172T>C (p.Val1391Ala) | Inborn genetic diseases [RCV004980280] | uncertain significance | 3 | 45931150 | 45931150 | Human | 1 | name |
| 597670669 | CV3676906 | single nucleotide variant | NM_024513.4(FYCO1):c.3614A>G (p.Tyr1205Cys) | Inborn genetic diseases [RCV004980283] | uncertain significance | 3 | 45958593 | 45958593 | Human | 1 | name |
| 597682773 | CV3676907 | single nucleotide variant | NM_024513.4(FYCO1):c.3610T>G (p.Tyr1204Asp) | Inborn genetic diseases [RCV004983603] | uncertain significance | 3 | 45958597 | 45958597 | Human | 1 | name |
| 597866221 | CV3834431 | single nucleotide variant | NM_024513.4(FYCO1):c.4339A>T (p.Ile1447Phe) | Cataract 18 [RCV005175798] | uncertain significance | 3 | 45923678 | 45923678 | Human | 1 | name |
| 597933332 | CV3844670 | single nucleotide variant | NM_024513.4(FYCO1):c.3631G>A (p.Val1211Ile) | Cataract 18 [RCV005186176] | likely benign | 3 | 45958576 | 45958576 | Human | 1 | name |
| 597964604 | CV3848101 | single nucleotide variant | NM_024513.4(FYCO1):c.3164A>G (p.Asp1055Gly) | Cataract 18 [RCV005193980] | uncertain significance | 3 | 45964441 | 45964441 | Human | 1 | name |
| 8602288 | CV39606 | single nucleotide variant | NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) | Cataract 18 [RCV000023624] | pathogenic | 3 | 45931195 | 45931195 | Human | 1 | name |
| 598243924 | CV3977200 | single nucleotide variant | NM_024513.4(FYCO1):c.4417G>A (p.Asp1473Asn) | Inborn genetic diseases [RCV005344787] | uncertain significance | 3 | 45921785 | 45921785 | Human | 1 | name |
| 598243931 | CV3977201 | single nucleotide variant | NM_024513.4(FYCO1):c.3640A>C (p.Lys1214Gln) | Inborn genetic diseases [RCV005344788] | uncertain significance | 3 | 45958567 | 45958567 | Human | 1 | name |
| 13208194 | CV424503 | single nucleotide variant | NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) | Cataract 18 [RCV000496073] | pathogenic|conflicting interpretations of pathogenicity | 3 | 45923746 | 45923746 | Human | 1 | name |
| 13467275 | CV452648 | single nucleotide variant | NM_024513.4(FYCO1):c.4265C>T (p.Thr1422Met) | Cataract 18 [RCV000543854]|not provided [RCV004546517] | benign | 3 | 45923752 | 45923752 | Human | 1 | name |
| 13486577 | CV452741 | single nucleotide variant | NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg) | Cataract 18 [RCV001149465]|FYCO1-related disorder [RCV003935469]|not provided [RCV000828290] | benign|likely benign | 3 | 45958428 | 45958428 | Human | 1 | name , trait , alternate_id |
| 14716597 | CV631453 | single nucleotide variant | NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) | Cataract 18 [RCV000811625] | uncertain significance | 3 | 45923725 | 45923725 | Human | 1 | name |
| 15103162 | CV686429 | single nucleotide variant | NM_024513.4(FYCO1):c.4147G>A (p.Glu1383Lys) | Cataract 18 [RCV000870616] | benign | 3 | 45931175 | 45931175 | Human | 1 | name |
| 15149520 | CV698117 | single nucleotide variant | NM_024513.4(FYCO1):c.3323A>G (p.Lys1108Arg) | Cataract 18 [RCV003640942]|FYCO1-related disorder [RCV004743220] | likely benign | 3 | 45962339 | 45962339 | Human | 1 | name , trait , alternate_id |
| 15189949 | CV698118 | single nucleotide variant | NM_024513.4(FYCO1):c.3072G>C (p.Glu1024Asp) | not provided [RCV000954330] | benign | 3 | 45965111 | 45965111 | Human | 1 | name |
| 15189949 | CV698118 | single nucleotide variant | NM_024513.4(FYCO1):c.3072G>C (p.Glu1024Asp) | not provided [RCV000954330] | benign | 3 | 45965111 | 45965112 | Human | 1 | name |
| 26898230 | CV828187 | single nucleotide variant | NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe) | Cataract 18 [RCV001036073] | uncertain significance | 3 | 45955303 | 45955303 | Human | 1 | name |
| 28874064 | CV889061 | single nucleotide variant | NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) | Cataract 18 [RCV001147037] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 45931171 | 45931171 | Human | 1 | name |
| 28874066 | CV889062 | single nucleotide variant | NM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg) | Cataract 18 [RCV001147038]|Inborn genetic diseases [RCV002559415] | uncertain significance | 3 | 45931241 | 45931241 | Human | 2 | name |
| 28876106 | CV889064 | single nucleotide variant | NM_024513.4(FYCO1):c.3959C>A (p.Thr1320Asn) | Cataract 18 [RCV001147925] | uncertain significance | 3 | 45936529 | 45936529 | Human | 1 | name |
| 28876109 | CV889065 | single nucleotide variant | NM_024513.4(FYCO1):c.3920C>A (p.Ser1307Tyr) | Cataract 18 [RCV001147926] | uncertain significance | 3 | 45955273 | 45955273 | Human | 1 | name |
| 28880938 | CV889067 | single nucleotide variant | NM_024513.4(FYCO1):c.3809C>T (p.Thr1270Ile) | Cataract 18 [RCV001149464] | uncertain significance | 3 | 45955384 | 45955384 | Human | 1 | name |
| 28880944 | CV889068 | single nucleotide variant | NM_024513.4(FYCO1):c.3587G>C (p.Arg1196Thr) | Cataract 18 [RCV001149466] | uncertain significance | 3 | 45959393 | 45959393 | Human | 1 | name |
| 28880949 | CV889069 | single nucleotide variant | NM_024513.4(FYCO1):c.3566T>C (p.Met1189Thr) | Cataract 18 [RCV001149467] | uncertain significance | 3 | 45959414 | 45959414 | Human | 1 | name |
| 28880956 | CV889070 | single nucleotide variant | NM_024513.4(FYCO1):c.3433C>G (p.Leu1145Val) | Cataract 18 [RCV001149468] | uncertain significance | 3 | 45962229 | 45962229 | Human | 1 | name |
| 28870027 | CV889071 | single nucleotide variant | NM_024513.4(FYCO1):c.3212A>G (p.Gln1071Arg) | Cataract 18 [RCV001145185]|not provided [RCV004709035] | benign | 3 | 45964393 | 45964393 | Human | 1 | name |
| 28870032 | CV889072 | single nucleotide variant | NM_024513.4(FYCO1):c.3047G>A (p.Ser1016Asn) | Cataract 18 [RCV001145187] | uncertain significance | 3 | 45966287 | 45966287 | Human | 1 | name |
| 28874296 | CV889073 | single nucleotide variant | NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg) | Cataract 18 [RCV001147144]|FYCO1-related disorder [RCV003963086] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 45966310 | 45966310 | Human | 1 | name , trait , alternate_id |
| 38493856 | CV923218 | single nucleotide variant | NM_024513.4(FYCO1):c.3572G>A (p.Arg1191Gln) | Cataract 18 [RCV001224559]|Inborn genetic diseases [RCV002563657] | uncertain significance | 3 | 45959408 | 45959408 | Human | 2 | name |
| 38480567 | CV931962 | single nucleotide variant | NM_024513.4(FYCO1):c.4418A>G (p.Asp1473Gly) | Cataract 18 [RCV001206445]|Inborn genetic diseases [RCV005340667] | uncertain significance | 3 | 45921784 | 45921784 | Human | 2 | name |
| 38483740 | CV931963 | single nucleotide variant | NM_024513.4(FYCO1):c.3662G>A (p.Arg1221His) | Cataract 18 [RCV001207761] | uncertain significance | 3 | 45958545 | 45958545 | Human | 1 | name |
| 126755396 | CV989605 | single nucleotide variant | NM_024513.4(FYCO1):c.3599G>A (p.Arg1200His) | Cataract 18 [RCV001307851] | uncertain significance | 3 | 45958608 | 45958608 | Human | 1 | name |
| 25318373 | CV805351 | microsatellite | NM_024513.4(FYCO1):c.830_833del (p.Glu277fs) | not provided [RCV001008577] | pathogenic | 3 | 45968501 | 45968504 | Human | | name |
| 11593999 | CV290652 | deletion | NM_024513.4(FYCO1):c.1628_1629del (p.Lys543fs) | Cataract 18 [RCV000354541] | uncertain significance | 3 | 45967705 | 45967706 | Human | | name |
| 405187704 | CV3013236 | microsatellite | NM_024513.4(FYCO1):c.4176CTC[1] (p.Ser1394del) | Cataract 18 [RCV003640430] | uncertain significance | 3 | 45931141 | 45931143 | Human | | name |
| 407457324 | CV3416106 | deletion | NM_024513.4(FYCO1):c.2710_2713del (p.Asp904fs) | not provided [RCV004598984] | pathogenic | 3 | 45966621 | 45966624 | Human | | name |
| 597953404 | CV3795533 | duplication | NM_024513.4(FYCO1):c.2483_2487dup (p.Leu830fs) | Cataract 18 [RCV005136543] | pathogenic | 3 | 45966846 | 45966847 | Human | 1 | name |
| 8568485 | CV39605 | duplication | NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs) | Cataract 18 [RCV000023623] | pathogenic | 3 | 45955330 | 45955331 | Human | 1 | name |
| 13208146 | CV424504 | microsatellite | NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs) | Cataract 18 [RCV000496018]|not provided [RCV003222003] | pathogenic | 3 | 45962334 | 45962335 | Human | | name |
| 155642975 | CV1707616 | indel | NM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter) | Cataract 18 [RCV002289077]|not provided [RCV004812441] | pathogenic | 3 | 45979726 | 45979728 | Human | | name |
| 151734450 | CV1393125 | insertion | NM_024513.4(FYCO1):c.528_529insGGCAAAGT (p.Thr177fs) | Cataract 18 [RCV001967448] | pathogenic | 3 | 45973098 | 45973099 | Human | 1 | name |
| 11545840 | CV251155 | indel | NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu) | Cataract 18 [RCV003243032]|Developmental cataract [RCV000277445]|not specified [RCV000245683] | benign|likely benign|uncertain significance | 3 | 45966331 | 45966333 | Human | | name |