| 15174990 | CV778278 | single nucleotide variant | NM_004703.6(RABEP1):c.2371-4T>C | not provided [RCV000950470] | benign | 17 | 5381385 | 5381385 | Human | | name |
| 156289753 | CV2309745 | single nucleotide variant | NM_004703.6(RABEP1):c.5C>A (p.Ala2Glu) | not specified [RCV004160871] | uncertain significance | 17 | 5282491 | 5282491 | Human | | name |
| 401756746 | CV2696466 | single nucleotide variant | NM_004703.6(RABEP1):c.22T>C (p.Ser8Pro) | not specified [RCV004312542] | likely benign | 17 | 5282508 | 5282508 | Human | | name |
| 156381891 | CV2227096 | single nucleotide variant | NM_004703.6(RABEP1):c.69A>C (p.Lys23Asn) | not specified [RCV004091727] | uncertain significance | 17 | 5308728 | 5308728 | Human | | name |
| 597751864 | CV3589182 | single nucleotide variant | NM_004703.6(RABEP1):c.49C>T (p.Arg17Trp) | not specified [RCV004846750] | uncertain significance | 17 | 5308708 | 5308708 | Human | | name |
| 597751879 | CV3589185 | single nucleotide variant | NM_004703.6(RABEP1):c.38C>G (p.Ser13Cys) | not specified [RCV004846753] | uncertain significance | 17 | 5308697 | 5308697 | Human | | name |
| 401935642 | CV2814772 | single nucleotide variant | NM_004703.6(RABEP1):c.1179G>A (p.Ser393=) | not provided [RCV003413099] | likely benign | 17 | 5361291 | 5361291 | Human | | name |
| 597775470 | CV3589178 | single nucleotide variant | NM_004703.6(RABEP1):c.2272T>C (p.Leu758=) | not specified [RCV004852258] | likely benign | 17 | 5380364 | 5380364 | Human | | name |
| 597751857 | CV3589179 | single nucleotide variant | NM_004703.6(RABEP1):c.2376C>T (p.Thr792=) | not specified [RCV004846748] | likely benign | 17 | 5381394 | 5381394 | Human | | name |
| 15172406 | CV727293 | single nucleotide variant | NM_004703.6(RABEP1):c.1206C>T (p.Leu402=) | not provided [RCV000883835] | likely benign | 17 | 5361318 | 5361318 | Human | | name |
| 156188282 | CV2226754 | single nucleotide variant | NM_004703.6(RABEP1):c.589G>A (p.Ala197Thr) | not specified [RCV004101973] | uncertain significance | 17 | 5338079 | 5338079 | Human | | name |
| 155913895 | CV2242535 | single nucleotide variant | NM_004703.6(RABEP1):c.397C>T (p.His133Tyr) | not specified [RCV004113605] | uncertain significance | 17 | 5335213 | 5335213 | Human | | name |
| 155981951 | CV2244134 | single nucleotide variant | NM_004703.6(RABEP1):c.623A>C (p.Lys208Thr) | not specified [RCV004108592] | uncertain significance | 17 | 5338113 | 5338113 | Human | | name |
| 156212529 | CV2259962 | single nucleotide variant | NM_004703.6(RABEP1):c.569C>T (p.Pro190Leu) | not specified [RCV004118984] | uncertain significance | 17 | 5338059 | 5338059 | Human | | name |
| 155926281 | CV2284846 | single nucleotide variant | NM_004703.6(RABEP1):c.328T>G (p.Trp110Gly) | not specified [RCV004143306] | uncertain significance | 17 | 5332113 | 5332113 | Human | | name |
| 156178881 | CV2327618 | single nucleotide variant | NM_004703.6(RABEP1):c.485C>G (p.Ser162Cys) | not specified [RCV004177202] | uncertain significance | 17 | 5335301 | 5335301 | Human | | name |
| 155927066 | CV2395961 | single nucleotide variant | NM_004703.6(RABEP1):c.448G>A (p.Ala150Thr) | not specified [RCV004237511] | uncertain significance | 17 | 5335264 | 5335264 | Human | | name |
| 329400101 | CV2440577 | single nucleotide variant | NM_004703.6(RABEP1):c.655G>A (p.Glu219Lys) | not specified [RCV004256490] | uncertain significance | 17 | 5346796 | 5346796 | Human | | name |
| 401746004 | CV2695481 | single nucleotide variant | NM_004703.6(RABEP1):c.664C>A (p.His222Asn) | not specified [RCV004305667] | uncertain significance | 17 | 5346805 | 5346805 | Human | | name |
| 401744054 | CV2696926 | single nucleotide variant | NM_004703.6(RABEP1):c.485C>A (p.Ser162Tyr) | not specified [RCV004292926] | uncertain significance | 17 | 5335301 | 5335301 | Human | | name |
| 401878909 | CV2773782 | single nucleotide variant | NM_004703.6(RABEP1):c.633G>C (p.Glu211Asp) | not specified [RCV004358237] | uncertain significance | 17 | 5338123 | 5338123 | Human | | name |
| 401890769 | CV2778939 | single nucleotide variant | NM_004703.6(RABEP1):c.920C>T (p.Ser307Leu) | not specified [RCV004348602] | uncertain significance | 17 | 5350586 | 5350586 | Human | | name |
| 405680748 | CV3318806 | single nucleotide variant | NM_004703.6(RABEP1):c.473G>C (p.Arg158Thr) | not specified [RCV004443265] | uncertain significance | 17 | 5335289 | 5335289 | Human | | name |
| 597751874 | CV3589184 | single nucleotide variant | NM_004703.6(RABEP1):c.473G>A (p.Arg158Lys) | not specified [RCV004846752] | uncertain significance | 17 | 5335289 | 5335289 | Human | | name |
| 598164771 | CV3908609 | single nucleotide variant | NM_004703.6(RABEP1):c.766C>T (p.Arg256Trp) | not specified [RCV005261766] | uncertain significance | 17 | 5346907 | 5346907 | Human | | name |
| 598164798 | CV3908613 | single nucleotide variant | NM_004703.6(RABEP1):c.650T>A (p.Val217Asp) | not specified [RCV005261770] | uncertain significance | 17 | 5346791 | 5346791 | Human | | name |
| 156174816 | CV2194466 | single nucleotide variant | NM_004703.6(RABEP1):c.1798G>A (p.Val600Ile) | not specified [RCV004079560] | uncertain significance | 17 | 5368382 | 5368382 | Human | | name |
| 156069320 | CV2320613 | single nucleotide variant | NM_004703.6(RABEP1):c.1361C>T (p.Thr454Ile) | not specified [RCV004172230] | uncertain significance | 17 | 5361473 | 5361473 | Human | | name |
| 156334012 | CV2333325 | single nucleotide variant | NM_004703.6(RABEP1):c.1979T>G (p.Val660Gly) | not specified [RCV004197066] | uncertain significance | 17 | 5373408 | 5373408 | Human | | name |
| 156226480 | CV2352748 | single nucleotide variant | NM_004703.6(RABEP1):c.2020A>G (p.Thr674Ala) | not specified [RCV004198770] | uncertain significance | 17 | 5373449 | 5373449 | Human | | name |
| 156342374 | CV2368539 | single nucleotide variant | NM_004703.6(RABEP1):c.2092G>A (p.Val698Ile) | not specified [RCV004221330] | uncertain significance | 17 | 5377182 | 5377182 | Human | | name |
| 329387404 | CV2436441 | single nucleotide variant | NM_004703.6(RABEP1):c.2534G>A (p.Arg845Gln) | not specified [RCV004251824] | uncertain significance | 17 | 5383168 | 5383168 | Human | | name |
| 329354968 | CV2473340 | single nucleotide variant | NM_004703.6(RABEP1):c.1768G>A (p.Glu590Lys) | Teratoma [RCV003221383] | uncertain significance | 17 | 5365221 | 5365221 | Human | 2 | name |
| 401749413 | CV2693124 | single nucleotide variant | NM_004703.6(RABEP1):c.1782C>A (p.His594Gln) | not specified [RCV004308657] | uncertain significance | 17 | 5365235 | 5365235 | Human | | name |
| 401759072 | CV2694412 | single nucleotide variant | NM_004703.6(RABEP1):c.2080G>A (p.Ala694Thr) | not specified [RCV004304592] | uncertain significance | 17 | 5377170 | 5377170 | Human | | name |
| 401735499 | CV2702790 | single nucleotide variant | NM_004703.6(RABEP1):c.1748A>G (p.Asp583Gly) | not specified [RCV004319357] | uncertain significance | 17 | 5365201 | 5365201 | Human | | name |
| 401762550 | CV2719970 | single nucleotide variant | NM_004703.6(RABEP1):c.1605G>A (p.Met535Ile) | not specified [RCV004323556] | uncertain significance | 17 | 5362953 | 5362953 | Human | | name |
| 405680712 | CV3318798 | single nucleotide variant | NM_004703.6(RABEP1):c.1102T>G (p.Leu368Val) | not specified [RCV004443257] | uncertain significance | 17 | 5361214 | 5361214 | Human | | name |
| 405680717 | CV3318799 | single nucleotide variant | NM_004703.6(RABEP1):c.1399A>T (p.Met467Leu) | not specified [RCV004443258] | uncertain significance | 17 | 5361511 | 5361511 | Human | | name |
| 405680727 | CV3318801 | single nucleotide variant | NM_004703.6(RABEP1):c.1790C>G (p.Ser597Cys) | not specified [RCV004443260] | uncertain significance | 17 | 5368374 | 5368374 | Human | | name |
| 405680732 | CV3318802 | single nucleotide variant | NM_004703.6(RABEP1):c.1793C>T (p.Ala598Val) | not specified [RCV004443261] | uncertain significance | 17 | 5368377 | 5368377 | Human | | name |
| 405680737 | CV3318803 | single nucleotide variant | NM_004703.6(RABEP1):c.1871T>C (p.Val624Ala) | not specified [RCV004443262] | uncertain significance | 17 | 5368455 | 5368455 | Human | | name |
| 405680745 | CV3318805 | single nucleotide variant | NM_004703.6(RABEP1):c.2309A>T (p.Glu770Val) | not specified [RCV004443264] | uncertain significance | 17 | 5380401 | 5380401 | Human | | name |
| 407484207 | CV3461756 | single nucleotide variant | NM_004703.6(RABEP1):c.2146G>A (p.Glu716Lys) | not specified [RCV004665073] | uncertain significance | 17 | 5377236 | 5377236 | Human | | name |
| 597775466 | CV3589177 | single nucleotide variant | NM_004703.6(RABEP1):c.2075G>A (p.Arg692Gln) | not specified [RCV004852257] | uncertain significance | 17 | 5377165 | 5377165 | Human | | name |
| 597751860 | CV3589181 | single nucleotide variant | NM_004703.6(RABEP1):c.1592G>C (p.Arg531Thr) | not specified [RCV004846749] | uncertain significance | 17 | 5362940 | 5362940 | Human | | name |
| 597751869 | CV3589183 | single nucleotide variant | NM_004703.6(RABEP1):c.2465T>G (p.Val822Gly) | not specified [RCV004846751] | uncertain significance | 17 | 5381483 | 5381483 | Human | | name |
| 598164780 | CV3908610 | single nucleotide variant | NM_004703.6(RABEP1):c.1056A>T (p.Leu352Phe) | not specified [RCV005261767] | uncertain significance | 17 | 5354451 | 5354451 | Human | | name |
| 598164786 | CV3908611 | single nucleotide variant | NM_004703.6(RABEP1):c.1178C>T (p.Ser393Leu) | not specified [RCV005261768] | uncertain significance | 17 | 5361290 | 5361290 | Human | | name |
| 598164792 | CV3908612 | single nucleotide variant | NM_004703.6(RABEP1):c.1103T>C (p.Leu368Ser) | not specified [RCV005261769] | uncertain significance | 17 | 5361215 | 5361215 | Human | | name |
| 598164805 | CV3908614 | single nucleotide variant | NM_004703.6(RABEP1):c.1580A>G (p.Asn527Ser) | not specified [RCV005261771] | uncertain significance | 17 | 5362928 | 5362928 | Human | | name |