| 150531014 | CV1311402 | single nucleotide variant | NM_001128918.3(MARK3):c.413-4A>G | MARK3-related disorder [RCV003976170]|Visual impairment and progressive phthisis bulbi [RCV001775510]|not provided [RCV004716801] | benign | 14 | 103457138 | 103457138 | Human | 1 | name , trait , alternate_id |
| 405258026 | CV3208092 | single nucleotide variant | NM_001128918.3(MARK3):c.412+4A>T | MARK3-related disorder [RCV003941544] | likely benign | 14 | 103451987 | 103451987 | Human | | name , trait , alternate_id |
| 405290342 | CV3207477 | single nucleotide variant | NM_001128918.3(MARK3):c.1586+4G>C | MARK3-related disorder [RCV003927058] | likely benign | 14 | 103480494 | 103480494 | Human | | name , trait , alternate_id |
| 151728611 | CV1335219 | single nucleotide variant | NM_001128918.3(MARK3):c.1917-11A>G | not specified [RCV001844537] | uncertain significance | 14 | 103502871 | 103502871 | Human | | name |
| 405286418 | CV3192122 | single nucleotide variant | NM_001128918.3(MARK3):c.150A>G (p.Gln50=) | MARK3-related disorder [RCV003924037] | likely benign | 14 | 103405174 | 103405174 | Human | | name , trait , alternate_id |
| 407494849 | CV3456896 | single nucleotide variant | NM_001128918.3(MARK3):c.26C>T (p.Thr9Met) | not specified [RCV004643084] | uncertain significance | 14 | 103386055 | 103386055 | Human | | name |
| 405658452 | CV3281656 | single nucleotide variant | NM_001128918.3(MARK3):c.43A>G (p.Thr15Ala) | not specified [RCV004416477] | uncertain significance | 14 | 103386072 | 103386072 | Human | | name |
| 8635109 | CV90331 | single nucleotide variant | NM_001128918.2(MARK3):c.339C>T (p.Pro113=) | Malignant melanoma [RCV000070429] | not provided | 14 | 103448960 | 103448960 | Human | | name |
| 126912752 | CV1038270 | single nucleotide variant | NM_001128918.3(MARK3):c.125C>T (p.Ser42Phe) | not provided [RCV001356766] | uncertain significance | 14 | 103405149 | 103405149 | Human | | name |
| 155997499 | CV2398722 | single nucleotide variant | NM_001128918.3(MARK3):c.113G>A (p.Arg38Gln) | not specified [RCV004240062] | uncertain significance | 14 | 103405137 | 103405137 | Human | | name |
| 401727871 | CV2678536 | single nucleotide variant | NM_001128918.3(MARK3):c.296A>G (p.Lys99Arg) | not specified [RCV004292548] | uncertain significance | 14 | 103428439 | 103428439 | Human | | name |
| 405284706 | CV3190527 | single nucleotide variant | NM_001128918.3(MARK3):c.1293G>A (p.Ala431=) | MARK3-related disorder [RCV003909334] | benign | 14 | 103475021 | 103475021 | Human | | name , trait , alternate_id |
| 405275132 | CV3204654 | single nucleotide variant | NM_001128918.3(MARK3):c.1896C>T (p.Asn632=) | MARK3-related disorder [RCV003952057] | likely benign | 14 | 103500180 | 103500180 | Human | | name , trait , alternate_id |
| 405255904 | CV3208427 | single nucleotide variant | NM_001128918.3(MARK3):c.1389G>A (p.Lys463=) | MARK3-related disorder [RCV003939525] | benign | 14 | 103475117 | 103475117 | Human | | name , trait , alternate_id |
| 405294306 | CV3214822 | single nucleotide variant | NM_001128918.3(MARK3):c.1875T>C (p.Leu625=) | MARK3-related disorder [RCV003934236] | likely benign | 14 | 103500159 | 103500159 | Human | | name , trait , alternate_id |
| 405272464 | CV3221873 | single nucleotide variant | NM_001128918.3(MARK3):c.1314C>A (p.Thr438=) | MARK3-related disorder [RCV003972191] | benign | 14 | 103475042 | 103475042 | Human | | name , trait , alternate_id |
| 405658433 | CV3281649 | single nucleotide variant | NM_001128918.3(MARK3):c.146A>C (p.Glu49Ala) | not specified [RCV004416470] | uncertain significance | 14 | 103405170 | 103405170 | Human | | name |
| 405658436 | CV3281650 | single nucleotide variant | NM_001128918.3(MARK3):c.151C>T (p.Pro51Ser) | not specified [RCV004416471] | uncertain significance | 14 | 103405175 | 103405175 | Human | | name |
| 598176966 | CV3985511 | single nucleotide variant | NM_001128918.3(MARK3):c.222A>C (p.Arg74Ser) | not specified [RCV005371512] | uncertain significance | 14 | 103405246 | 103405246 | Human | | name |
| 405292029 | CV3207851 | single nucleotide variant | NM_001128918.3(MARK3):c.886G>C (p.Gly296Arg) | MARK3-related disorder [RCV003929527] | likely benign | 14 | 103466080 | 103466080 | Human | | name , trait , alternate_id |
| 405658455 | CV3281657 | single nucleotide variant | NM_001128918.3(MARK3):c.785G>A (p.Arg262Lys) | not specified [RCV004416478] | uncertain significance | 14 | 103465979 | 103465979 | Human | | name |
| 405658458 | CV3281658 | single nucleotide variant | NM_001128918.3(MARK3):c.886G>A (p.Gly296Ser) | not specified [RCV004416479] | uncertain significance | 14 | 103466080 | 103466080 | Human | | name |
| 405658461 | CV3281659 | single nucleotide variant | NM_001128918.3(MARK3):c.914G>A (p.Arg305Lys) | not specified [RCV004416480] | uncertain significance | 14 | 103466359 | 103466359 | Human | | name |
| 405658464 | CV3281660 | single nucleotide variant | NM_001128918.3(MARK3):c.968A>G (p.Glu323Gly) | not specified [RCV004416481] | uncertain significance | 14 | 103466413 | 103466413 | Human | | name |
| 407469256 | CV3456898 | single nucleotide variant | NM_001128918.3(MARK3):c.623A>G (p.Lys208Arg) | not specified [RCV004636563] | uncertain significance | 14 | 103465639 | 103465639 | Human | | name |
| 598198954 | CV3985512 | single nucleotide variant | NM_001128918.3(MARK3):c.364A>T (p.Ile122Phe) | not specified [RCV005375626] | uncertain significance | 14 | 103451935 | 103451935 | Human | | name |
| 598176985 | CV3985516 | single nucleotide variant | NM_001128918.3(MARK3):c.758T>C (p.Phe253Ser) | not specified [RCV005371516] | uncertain significance | 14 | 103465774 | 103465774 | Human | | name |
| 156175232 | CV2205231 | single nucleotide variant | NM_001128918.3(MARK3):c.1922A>G (p.Asn641Ser) | not specified [RCV004079860] | uncertain significance | 14 | 103502887 | 103502887 | Human | | name |
| 156149349 | CV2234765 | single nucleotide variant | NM_001128918.3(MARK3):c.2037C>G (p.Ile679Met) | not specified [RCV004111210] | uncertain significance | 14 | 103503002 | 103503002 | Human | | name |
| 156037168 | CV2250143 | single nucleotide variant | NM_001128918.3(MARK3):c.2216C>T (p.Ala739Val) | not specified [RCV004116951] | uncertain significance | 14 | 103503181 | 103503181 | Human | | name |
| 156180955 | CV2298498 | single nucleotide variant | NM_001128918.3(MARK3):c.1715G>A (p.Arg572Gln) | not specified [RCV004162162] | uncertain significance | 14 | 103491905 | 103491905 | Human | | name |
| 156251768 | CV2311321 | single nucleotide variant | NM_001128918.3(MARK3):c.2065G>T (p.Asp689Tyr) | not specified [RCV004166392] | uncertain significance | 14 | 103503030 | 103503030 | Human | | name |
| 156052615 | CV2320317 | single nucleotide variant | NM_001128918.3(MARK3):c.2029C>T (p.Arg677Trp) | not specified [RCV004178479] | uncertain significance | 14 | 103502994 | 103502994 | Human | | name |
| 156362460 | CV2330201 | single nucleotide variant | NM_001128918.3(MARK3):c.1298C>T (p.Pro433Leu) | not specified [RCV004187663] | uncertain significance | 14 | 103475026 | 103475026 | Human | | name |
| 156186169 | CV2346582 | single nucleotide variant | NM_001128918.3(MARK3):c.2035A>G (p.Ile679Val) | not specified [RCV004206494] | uncertain significance | 14 | 103503000 | 103503000 | Human | | name |
| 155906353 | CV2357307 | single nucleotide variant | NM_001128918.3(MARK3):c.1142A>G (p.Asn381Ser) | not specified [RCV004200199] | uncertain significance | 14 | 103468064 | 103468064 | Human | | name |
| 156012224 | CV2358869 | single nucleotide variant | NM_001128918.3(MARK3):c.1168A>C (p.Ser390Arg) | not specified [RCV004212212] | uncertain significance | 14 | 103468090 | 103468090 | Human | | name |
| 156402668 | CV2371377 | single nucleotide variant | NM_001128918.3(MARK3):c.1117G>T (p.Ala373Ser) | not specified [RCV004223378] | uncertain significance | 14 | 103468039 | 103468039 | Human | | name |
| 155933658 | CV2372317 | single nucleotide variant | NM_001128918.3(MARK3):c.1708C>T (p.Arg570Trp) | not specified [RCV004217090] | uncertain significance | 14 | 103491898 | 103491898 | Human | | name |
| 156265907 | CV2389111 | single nucleotide variant | NM_001128918.3(MARK3):c.1661G>A (p.Arg554His) | not specified [RCV004235445] | uncertain significance | 14 | 103491851 | 103491851 | Human | | name |
| 401737644 | CV2679933 | single nucleotide variant | NM_001128918.3(MARK3):c.1901G>C (p.Arg634Thr) | not specified [RCV004284214] | uncertain significance | 14 | 103500185 | 103500185 | Human | | name |
| 401868702 | CV2767315 | single nucleotide variant | NM_001128918.3(MARK3):c.1297C>G (p.Pro433Ala) | not specified [RCV004349482] | uncertain significance | 14 | 103475025 | 103475025 | Human | | name |
| 401891562 | CV2769047 | single nucleotide variant | NM_001128918.3(MARK3):c.1385G>A (p.Gly462Glu) | not specified [RCV004348915] | uncertain significance | 14 | 103475113 | 103475113 | Human | | name |
| 405292447 | CV3196329 | single nucleotide variant | NM_001128918.3(MARK3):c.2201C>T (p.Ser734Leu) | MARK3-related disorder [RCV003964515] | likely benign | 14 | 103503166 | 103503166 | Human | | name , trait , alternate_id |
| 405282959 | CV3216927 | single nucleotide variant | NM_001128918.3(MARK3):c.1327A>G (p.Ser443Gly) | MARK3-related disorder [RCV003979088] | benign | 14 | 103475055 | 103475055 | Human | | name , trait , alternate_id |
| 405658430 | CV3281648 | single nucleotide variant | NM_001128918.3(MARK3):c.1003A>G (p.Met335Val) | not specified [RCV004416469] | uncertain significance | 14 | 103467084 | 103467084 | Human | | name |
| 405658437 | CV3281651 | single nucleotide variant | NM_001128918.3(MARK3):c.1636A>G (p.Ser546Gly) | not specified [RCV004416472] | uncertain significance | 14 | 103491826 | 103491826 | Human | | name |
| 405658440 | CV3281652 | single nucleotide variant | NM_001128918.3(MARK3):c.1699G>C (p.Gly567Arg) | not specified [RCV004416473] | uncertain significance | 14 | 103491889 | 103491889 | Human | | name |
| 405658443 | CV3281653 | single nucleotide variant | NM_001128918.3(MARK3):c.2097C>G (p.Phe699Leu) | not specified [RCV004416474] | uncertain significance | 14 | 103503062 | 103503062 | Human | | name |
| 405658444 | CV3281654 | single nucleotide variant | NM_001128918.3(MARK3):c.2199A>G (p.Ile733Met) | not specified [RCV004416475] | uncertain significance | 14 | 103503164 | 103503164 | Human | | name |
| 405658449 | CV3281655 | single nucleotide variant | NM_001128918.3(MARK3):c.2206A>G (p.Thr736Ala) | not specified [RCV004416476] | uncertain significance | 14 | 103503171 | 103503171 | Human | | name |
| 407469253 | CV3456893 | single nucleotide variant | NM_001128918.3(MARK3):c.2084G>A (p.Arg695His) | not specified [RCV004636562] | uncertain significance | 14 | 103503049 | 103503049 | Human | | name |
| 407494840 | CV3456894 | single nucleotide variant | NM_001128918.3(MARK3):c.1381G>A (p.Gly461Arg) | not specified [RCV004643082] | uncertain significance | 14 | 103475109 | 103475109 | Human | | name |
| 407494844 | CV3456895 | single nucleotide variant | NM_001128918.3(MARK3):c.1490C>T (p.Thr497Ile) | not specified [RCV004643083] | uncertain significance | 14 | 103480394 | 103480394 | Human | | name |
| 407494854 | CV3456897 | single nucleotide variant | NM_001128918.3(MARK3):c.1214T>C (p.Val405Ala) | not specified [RCV004643085] | uncertain significance | 14 | 103468136 | 103468136 | Human | | name |
| 597636597 | CV3697616 | single nucleotide variant | NM_001128918.3(MARK3):c.1268G>A (p.Gly423Glu) | not specified [RCV004940813] | uncertain significance | 14 | 103474996 | 103474996 | Human | | name |
| 597636602 | CV3697617 | single nucleotide variant | NM_001128918.3(MARK3):c.1130G>C (p.Ser377Thr) | not specified [RCV004940814] | uncertain significance | 14 | 103468052 | 103468052 | Human | | name |
| 597636608 | CV3697618 | single nucleotide variant | NM_001128918.3(MARK3):c.2008A>G (p.Met670Val) | not specified [RCV004940815] | uncertain significance | 14 | 103502973 | 103502973 | Human | | name |
| 597636612 | CV3697619 | single nucleotide variant | NM_001128918.3(MARK3):c.1718G>T (p.Arg573Leu) | not specified [RCV004940816] | uncertain significance | 14 | 103491908 | 103491908 | Human | | name |
| 597636617 | CV3697620 | single nucleotide variant | NM_001128918.3(MARK3):c.1864A>C (p.Ile622Leu) | not specified [RCV004940817] | uncertain significance | 14 | 103498521 | 103498521 | Human | | name |
| 597636622 | CV3697621 | single nucleotide variant | NM_001128918.3(MARK3):c.1649C>T (p.Pro550Leu) | not specified [RCV004940818] | uncertain significance | 14 | 103491839 | 103491839 | Human | | name |
| 597636627 | CV3697622 | single nucleotide variant | NM_001128918.3(MARK3):c.2246A>G (p.Asn749Ser) | not specified [RCV004940819] | uncertain significance | 14 | 103503211 | 103503211 | Human | | name |
| 598176970 | CV3985513 | single nucleotide variant | NM_001128918.3(MARK3):c.2105A>G (p.His702Arg) | not specified [RCV005371513] | uncertain significance | 14 | 103503070 | 103503070 | Human | | name |
| 598176974 | CV3985514 | single nucleotide variant | NM_001128918.3(MARK3):c.1006G>A (p.Val336Met) | not specified [RCV005371514] | uncertain significance | 14 | 103467087 | 103467087 | Human | | name |
| 598176979 | CV3985515 | single nucleotide variant | NM_001128918.3(MARK3):c.1762C>T (p.His588Tyr) | not specified [RCV005371515] | uncertain significance | 14 | 103491952 | 103491952 | Human | | name |
| 598198963 | CV3985517 | single nucleotide variant | NM_001128918.3(MARK3):c.1116T>G (p.Asp372Glu) | not specified [RCV005375627] | uncertain significance | 14 | 103468038 | 103468038 | Human | | name |
| 14349859 | CV590746 | single nucleotide variant | NM_001128918.3(MARK3):c.1708C>G (p.Arg570Gly) | Visual impairment and progressive phthisis bulbi [RCV000736034] | pathogenic | 14 | 103491898 | 103491898 | Human | 1 | name |