| 401914867 | CV2808452 | single nucleotide variant | NM_024419.5(PGS1):c.*11-44C>A | DNAH17-related disorder [RCV003919138]|not provided [RCV003428506] | likely benign | 17 | 78424017 | 78424017 | Human | 1 | name |
| 405276375 | CV3198510 | single nucleotide variant | NM_024419.5(PGS1):c.*11-158G>A | PGS1-related disorder [RCV003903842] | likely benign | 17 | 78423903 | 78423903 | Human | | name , trait , alternate_id |
| 8585550 | CV120137 | single nucleotide variant | NM_024419.4(PGS1):c.1402+3638C>T | Lung cancer [RCV000100657] | uncertain significance | 17 | 78407727 | 78407727 | Human | | name |
| 401772363 | CV2687501 | single nucleotide variant | NM_024419.5(PGS1):c.4G>A (p.Ala2Thr) | not specified [RCV004300736] | uncertain significance | 17 | 78378669 | 78378669 | Human | | name |
| 405748525 | CV3365009 | single nucleotide variant | NM_024419.5(PGS1):c.14C>A (p.Ala5Glu) | not specified [RCV004498785] | uncertain significance | 17 | 78378679 | 78378679 | Human | | name |
| 407529073 | CV3466983 | single nucleotide variant | NM_024419.5(PGS1):c.26C>T (p.Ala9Val) | not specified [RCV004655859] | uncertain significance | 17 | 78378691 | 78378691 | Human | | name |
| 156003776 | CV2396795 | single nucleotide variant | NM_024419.5(PGS1):c.37T>C (p.Phe13Leu) | not specified [RCV004233936] | uncertain significance | 17 | 78378702 | 78378702 | Human | | name |
| 597676129 | CV3572203 | single nucleotide variant | NM_024419.5(PGS1):c.702T>C (p.Gly234=) | not specified [RCV004836891] | likely benign | 17 | 78400677 | 78400677 | Human | | name |
| 401914864 | CV2808449 | single nucleotide variant | NM_024419.5(PGS1):c.1395C>T (p.His465=) | not provided [RCV003428505] | likely benign | 17 | 78404082 | 78404082 | Human | | name |
| 405748502 | CV3365005 | single nucleotide variant | NM_024419.5(PGS1):c.109C>T (p.Arg37Cys) | not specified [RCV004498781] | uncertain significance | 17 | 78378774 | 78378774 | Human | | name |
| 405748507 | CV3365006 | single nucleotide variant | NM_024419.5(PGS1):c.140G>T (p.Arg47Met) | not specified [RCV004498782] | uncertain significance | 17 | 78378805 | 78378805 | Human | | name |
| 598247863 | CV3999955 | single nucleotide variant | NM_024419.5(PGS1):c.179C>T (p.Pro60Leu) | not specified [RCV005384239] | uncertain significance | 17 | 78392511 | 78392511 | Human | | name |
| 156271113 | CV2195215 | single nucleotide variant | NM_024419.5(PGS1):c.911A>G (p.Asn304Ser) | not specified [RCV004080153] | uncertain significance | 17 | 78403598 | 78403598 | Human | | name |
| 155930552 | CV2224762 | single nucleotide variant | NM_024419.5(PGS1):c.743G>A (p.Arg248His) | not specified [RCV004092585] | uncertain significance | 17 | 78400718 | 78400718 | Human | | name |
| 155923690 | CV2347547 | single nucleotide variant | NM_024419.5(PGS1):c.788C>T (p.Thr263Met) | not specified [RCV004200487] | uncertain significance | 17 | 78400763 | 78400763 | Human | | name |
| 156087208 | CV2388104 | single nucleotide variant | NM_024419.5(PGS1):c.512G>C (p.Gly171Ala) | not specified [RCV004241225] | uncertain significance | 17 | 78399348 | 78399348 | Human | | name |
| 401759311 | CV2701484 | single nucleotide variant | NM_024419.5(PGS1):c.590C>A (p.Thr197Lys) | not specified [RCV004312151] | uncertain significance | 17 | 78399426 | 78399426 | Human | | name |
| 401783292 | CV2716251 | single nucleotide variant | NM_024419.5(PGS1):c.371C>T (p.Ala124Val) | not specified [RCV004323470] | uncertain significance | 17 | 78396345 | 78396345 | Human | | name |
| 401768453 | CV2716620 | single nucleotide variant | NM_024419.5(PGS1):c.803C>T (p.Ala268Val) | not specified [RCV004327687] | uncertain significance | 17 | 78400778 | 78400778 | Human | | name |
| 401770949 | CV2726312 | single nucleotide variant | NM_024419.5(PGS1):c.593C>T (p.Pro198Leu) | not specified [RCV004326754] | uncertain significance | 17 | 78399429 | 78399429 | Human | | name |
| 401895555 | CV2767484 | single nucleotide variant | NM_024419.5(PGS1):c.497C>A (p.Thr166Lys) | not specified [RCV004343648] | uncertain significance | 17 | 78398337 | 78398337 | Human | | name |
| 405748530 | CV3365010 | single nucleotide variant | NM_024419.5(PGS1):c.418T>C (p.Cys140Arg) | not specified [RCV004498786] | uncertain significance | 17 | 78398258 | 78398258 | Human | | name |
| 405748535 | CV3365011 | single nucleotide variant | NM_024419.5(PGS1):c.551G>A (p.Arg184Gln) | not specified [RCV004498787] | likely benign | 17 | 78399387 | 78399387 | Human | | name |
| 405748541 | CV3365012 | single nucleotide variant | NM_024419.5(PGS1):c.614G>A (p.Arg205Gln) | not specified [RCV004498788] | uncertain significance | 17 | 78399450 | 78399450 | Human | | name |
| 405748546 | CV3365013 | single nucleotide variant | NM_024419.5(PGS1):c.886C>T (p.Arg296Trp) | not specified [RCV004498789] | uncertain significance | 17 | 78403573 | 78403573 | Human | | name |
| 407530284 | CV3466984 | single nucleotide variant | NM_024419.5(PGS1):c.902A>G (p.Lys301Arg) | not specified [RCV004656975] | uncertain significance | 17 | 78403589 | 78403589 | Human | | name |
| 407530286 | CV3466985 | single nucleotide variant | NM_024419.5(PGS1):c.991C>A (p.Leu331Ile) | not specified [RCV004656976] | uncertain significance | 17 | 78403678 | 78403678 | Human | | name |
| 597766883 | CV3572205 | single nucleotide variant | NM_024419.5(PGS1):c.328A>G (p.Met110Val) | not specified [RCV004850356] | uncertain significance | 17 | 78392660 | 78392660 | Human | | name |
| 598247836 | CV3999951 | single nucleotide variant | NM_024419.5(PGS1):c.526C>T (p.Arg176Cys) | not specified [RCV005384235] | uncertain significance | 17 | 78399362 | 78399362 | Human | | name |
| 598247842 | CV3999952 | single nucleotide variant | NM_024419.5(PGS1):c.590C>T (p.Thr197Met) | not specified [RCV005384236] | uncertain significance | 17 | 78399426 | 78399426 | Human | | name |
| 598247871 | CV3999956 | single nucleotide variant | NM_024419.5(PGS1):c.527G>T (p.Arg176Leu) | not specified [RCV005384240] | uncertain significance | 17 | 78399363 | 78399363 | Human | | name |
| 155965016 | CV2206304 | single nucleotide variant | NM_024419.5(PGS1):c.1220A>G (p.Gln407Arg) | not specified [RCV004078646] | uncertain significance | 17 | 78403907 | 78403907 | Human | | name |
| 156230360 | CV2235045 | single nucleotide variant | NM_024419.5(PGS1):c.1595C>T (p.Ala532Val) | not specified [RCV004113228] | uncertain significance | 17 | 78419589 | 78419589 | Human | | name |
| 155912485 | CV2245560 | single nucleotide variant | NM_024419.5(PGS1):c.1279G>T (p.Ala427Ser) | not specified [RCV004109643] | uncertain significance | 17 | 78403966 | 78403966 | Human | | name |
| 155956480 | CV2304040 | single nucleotide variant | NM_024419.5(PGS1):c.1388C>T (p.Thr463Met) | not specified [RCV004170090] | uncertain significance | 17 | 78404075 | 78404075 | Human | | name |
| 156395909 | CV2325992 | single nucleotide variant | NM_024419.5(PGS1):c.1186A>G (p.Met396Val) | not specified [RCV004176204] | uncertain significance | 17 | 78403873 | 78403873 | Human | | name |
| 156063553 | CV2389388 | single nucleotide variant | NM_024419.5(PGS1):c.1610C>T (p.Pro537Leu) | not specified [RCV004238124] | uncertain significance | 17 | 78419604 | 78419604 | Human | | name |
| 401721406 | CV2709948 | single nucleotide variant | NM_024419.5(PGS1):c.1372T>C (p.Trp458Arg) | not specified [RCV004315019] | uncertain significance | 17 | 78404059 | 78404059 | Human | | name |
| 401890216 | CV2763706 | single nucleotide variant | NM_024419.5(PGS1):c.1106C>T (p.Thr369Ile) | not specified [RCV004343203] | uncertain significance | 17 | 78403793 | 78403793 | Human | | name |
| 405748485 | CV3365002 | single nucleotide variant | NM_024419.5(PGS1):c.1004A>G (p.Glu335Gly) | not specified [RCV004498778] | uncertain significance | 17 | 78403691 | 78403691 | Human | | name |
| 405748491 | CV3365003 | single nucleotide variant | NM_024419.5(PGS1):c.1010C>G (p.Ala337Gly) | not specified [RCV004498779] | uncertain significance | 17 | 78403697 | 78403697 | Human | | name |
| 405748497 | CV3365004 | single nucleotide variant | NM_024419.5(PGS1):c.1037C>A (p.Ala346Asp) | not specified [RCV004498780] | uncertain significance | 17 | 78403724 | 78403724 | Human | | name |
| 405748514 | CV3365007 | single nucleotide variant | NM_024419.5(PGS1):c.1432C>G (p.Leu478Val) | not specified [RCV004498783] | uncertain significance | 17 | 78414908 | 78414908 | Human | | name |
| 405748519 | CV3365008 | single nucleotide variant | NM_024419.5(PGS1):c.1485C>G (p.His495Gln) | not specified [RCV004498784] | uncertain significance | 17 | 78414961 | 78414961 | Human | | name |
| 407464416 | CV3466982 | single nucleotide variant | NM_024419.5(PGS1):c.1351C>T (p.Arg451Trp) | not specified [RCV004659947] | uncertain significance | 17 | 78404038 | 78404038 | Human | | name |
| 407530288 | CV3466986 | single nucleotide variant | NM_024419.5(PGS1):c.1298T>G (p.Val433Gly) | not specified [RCV004656977] | uncertain significance | 17 | 78403985 | 78403985 | Human | | name |
| 597676139 | CV3572204 | single nucleotide variant | NM_024419.5(PGS1):c.1078T>G (p.Phe360Val) | not specified [RCV004836892] | uncertain significance | 17 | 78403765 | 78403765 | Human | | name |
| 597766888 | CV3572206 | single nucleotide variant | NM_024419.5(PGS1):c.1276G>A (p.Gly426Ser) | not specified [RCV004850357] | uncertain significance | 17 | 78403963 | 78403963 | Human | | name |
| 598247849 | CV3999953 | single nucleotide variant | NM_024419.5(PGS1):c.1132C>T (p.Arg378Cys) | not specified [RCV005384237] | uncertain significance | 17 | 78403819 | 78403819 | Human | | name |
| 598247856 | CV3999954 | single nucleotide variant | NM_024419.5(PGS1):c.1546C>T (p.His516Tyr) | not specified [RCV005384238] | uncertain significance | 17 | 78415022 | 78415022 | Human | | name |
| 14696163 | CV612415 | single nucleotide variant | NM_024419.5(PGS1):c.1513G>A (p.Val505Met) | High myopia [RCV000785710]|not specified [RCV004027184] | uncertain significance | 17 | 78414989 | 78414989 | Human | 2 | name |