| 329398675 | CV2471253 | single nucleotide variant | NM_003613.4(CILP):c.8G>A (p.Gly3Glu) | not specified [RCV004280281] | uncertain significance | 15 | 65209748 | 65209748 | Human | | name |
| 401720102 | CV2675775 | single nucleotide variant | NM_003613.4(CILP):c.16G>T (p.Ala6Ser) | not specified [RCV004288017] | uncertain significance | 15 | 65209740 | 65209740 | Human | | name |
| 401904410 | CV2814240 | single nucleotide variant | NM_003613.4(CILP):c.198C>T (p.Gly66=) | not provided [RCV003394938] | likely benign | 15 | 65207008 | 65207008 | Human | | name |
| 405284666 | CV3190456 | single nucleotide variant | NM_003613.4(CILP):c.207C>T (p.Gly69=) | CILP-related disorder [RCV003909266] | likely benign | 15 | 65206999 | 65206999 | Human | | name , trait , alternate_id |
| 156046971 | CV2382385 | single nucleotide variant | NM_003613.4(CILP):c.62G>C (p.Gly21Ala) | not specified [RCV004230724] | uncertain significance | 15 | 65207764 | 65207764 | Human | | name |
| 401904409 | CV2814239 | single nucleotide variant | NM_003613.4(CILP):c.567C>T (p.Ser189=) | not provided [RCV003394937] | likely benign | 15 | 65205324 | 65205324 | Human | | name |
| 598230898 | CV3948091 | single nucleotide variant | NM_003613.4(CILP):c.92G>A (p.Arg31Lys) | not specified [RCV005319475] | uncertain significance | 15 | 65207734 | 65207734 | Human | | name |
| 126912224 | CV1038345 | single nucleotide variant | NM_003613.4(CILP):c.112A>G (p.Lys38Glu) | not provided [RCV001356280] | uncertain significance | 15 | 65207714 | 65207714 | Human | | name |
| 156386769 | CV2364838 | single nucleotide variant | NM_003613.4(CILP):c.263G>A (p.Arg88His) | not specified [RCV004219701] | uncertain significance | 15 | 65206943 | 65206943 | Human | | name |
| 156134574 | CV2379664 | single nucleotide variant | NM_003613.4(CILP):c.142G>A (p.Asp48Asn) | not specified [RCV004219790] | uncertain significance | 15 | 65207684 | 65207684 | Human | | name |
| 401863707 | CV2773199 | single nucleotide variant | NM_003613.4(CILP):c.158C>T (p.Pro53Leu) | not specified [RCV004351922] | uncertain significance | 15 | 65207048 | 65207048 | Human | | name |
| 405284696 | CV3190474 | single nucleotide variant | NM_003613.4(CILP):c.1941C>T (p.Asp647=) | CILP-related disorder [RCV003909283] | likely benign | 15 | 65198345 | 65198345 | Human | | name , trait , alternate_id |
| 405274611 | CV3208962 | single nucleotide variant | NM_003613.4(CILP):c.1458G>A (p.Thr486=) | CILP-related disorder [RCV003951737] | likely benign | 15 | 65198828 | 65198828 | Human | | name , trait , alternate_id |
| 405673723 | CV3293797 | single nucleotide variant | NM_003613.4(CILP):c.217C>T (p.Arg73Trp) | not specified [RCV004441873] | uncertain significance | 15 | 65206989 | 65206989 | Human | | name |
| 405673735 | CV3293801 | single nucleotide variant | NM_003613.4(CILP):c.247G>A (p.Asp83Asn) | not specified [RCV004441877] | uncertain significance | 15 | 65206959 | 65206959 | Human | | name |
| 407456335 | CV3419127 | single nucleotide variant | NM_003613.4(CILP):c.232C>T (p.Arg78Cys) | not specified [RCV004610687] | uncertain significance | 15 | 65206974 | 65206974 | Human | | name |
| 407456352 | CV3419133 | single nucleotide variant | NM_003613.4(CILP):c.251G>A (p.Arg84His) | not specified [RCV004610693] | uncertain significance | 15 | 65206955 | 65206955 | Human | | name |
| 407456354 | CV3419134 | single nucleotide variant | NM_003613.4(CILP):c.210C>A (p.Asp70Glu) | not specified [RCV004610694] | uncertain significance | 15 | 65206996 | 65206996 | Human | | name |
| 407456357 | CV3419135 | single nucleotide variant | NM_003613.4(CILP):c.278A>T (p.Glu93Val) | not specified [RCV004610695] | uncertain significance | 15 | 65206928 | 65206928 | Human | | name |
| 597781533 | CV3650277 | single nucleotide variant | NM_003613.4(CILP):c.199G>A (p.Gly67Arg) | not specified [RCV004899672] | uncertain significance | 15 | 65207007 | 65207007 | Human | | name |
| 597781510 | CV3650282 | single nucleotide variant | NM_003613.4(CILP):c.226G>A (p.Ala76Thr) | not specified [RCV004899677] | uncertain significance | 15 | 65206980 | 65206980 | Human | | name |
| 8627683 | CV82827 | single nucleotide variant | NM_003613.3(CILP):c.1959C>T (p.Pro653=) | Malignant melanoma [RCV000062907] | not provided | 15 | 65198327 | 65198327 | Human | | name |
| 155966414 | CV2216666 | single nucleotide variant | NM_003613.4(CILP):c.302C>G (p.Pro101Arg) | not specified [RCV004083122] | uncertain significance | 15 | 65206904 | 65206904 | Human | | name |
| 156380685 | CV2218893 | single nucleotide variant | NM_003613.4(CILP):c.434G>A (p.Arg145His) | not specified [RCV004085121] | uncertain significance | 15 | 65205457 | 65205457 | Human | | name |
| 156288359 | CV2299181 | single nucleotide variant | NM_003613.4(CILP):c.802T>C (p.Cys268Arg) | not specified [RCV004152522] | uncertain significance | 15 | 65204385 | 65204385 | Human | | name |
| 156197102 | CV2306781 | single nucleotide variant | NM_003613.4(CILP):c.958C>T (p.Arg320Trp) | not specified [RCV004159356] | uncertain significance | 15 | 65203432 | 65203432 | Human | | name |
| 156147480 | CV2311160 | single nucleotide variant | NM_003613.4(CILP):c.694C>T (p.Leu232Phe) | not specified [RCV004165970] | uncertain significance | 15 | 65204493 | 65204493 | Human | | name |
| 155976387 | CV2324700 | single nucleotide variant | NM_003613.4(CILP):c.629G>T (p.Gly210Val) | not specified [RCV004172942] | uncertain significance | 15 | 65204558 | 65204558 | Human | | name |
| 329382537 | CV2424399 | single nucleotide variant | NM_003613.4(CILP):c.749C>T (p.Pro250Leu) | not specified [RCV004252297] | uncertain significance | 15 | 65204438 | 65204438 | Human | | name |
| 329399409 | CV2470085 | single nucleotide variant | NM_003613.4(CILP):c.505G>A (p.Gly169Arg) | not specified [RCV004287347] | uncertain significance | 15 | 65205386 | 65205386 | Human | | name |
| 401771218 | CV2675501 | single nucleotide variant | NM_003613.4(CILP):c.793C>A (p.Pro265Thr) | not specified [RCV004295118] | uncertain significance | 15 | 65204394 | 65204394 | Human | | name |
| 401730658 | CV2677251 | single nucleotide variant | NM_003613.4(CILP):c.340C>T (p.Arg114Cys) | not specified [RCV004295874] | uncertain significance | 15 | 65206866 | 65206866 | Human | | name |
| 401735307 | CV2706745 | single nucleotide variant | NM_003613.4(CILP):c.545T>C (p.Val182Ala) | not specified [RCV004319307] | uncertain significance | 15 | 65205346 | 65205346 | Human | | name |
| 401751209 | CV2716322 | single nucleotide variant | NM_003613.4(CILP):c.403G>C (p.Val135Leu) | not specified [RCV004325320] | uncertain significance | 15 | 65206803 | 65206803 | Human | | name |
| 401867160 | CV2759115 | single nucleotide variant | NM_003613.4(CILP):c.616A>C (p.Thr206Pro) | not specified [RCV004342414] | uncertain significance | 15 | 65204571 | 65204571 | Human | | name |
| 401890168 | CV2763665 | single nucleotide variant | NM_003613.4(CILP):c.428C>T (p.Ser143Phe) | not specified [RCV004343168] | uncertain significance | 15 | 65205463 | 65205463 | Human | | name |
| 401896295 | CV2773823 | single nucleotide variant | NM_003613.4(CILP):c.449G>A (p.Arg150His) | not specified [RCV004358272] | likely benign | 15 | 65205442 | 65205442 | Human | | name |
| 401872480 | CV2779685 | single nucleotide variant | NM_003613.4(CILP):c.439G>A (p.Asp147Asn) | not specified [RCV004351377] | uncertain significance | 15 | 65205452 | 65205452 | Human | | name |
| 401875966 | CV2789249 | single nucleotide variant | NM_003613.4(CILP):c.976G>A (p.Val326Met) | not specified [RCV004365281] | uncertain significance | 15 | 65203414 | 65203414 | Human | | name |
| 405284520 | CV3213737 | single nucleotide variant | NM_003613.4(CILP):c.3234T>C (p.Thr1078=) | CILP-related disorder [RCV003922295] | likely benign | 15 | 65197052 | 65197052 | Human | | name , trait , alternate_id |
| 405673759 | CV3293808 | single nucleotide variant | NM_003613.4(CILP):c.344A>C (p.Glu115Ala) | not specified [RCV004441884] | uncertain significance | 15 | 65206862 | 65206862 | Human | | name |
| 405673763 | CV3293809 | single nucleotide variant | NM_003613.4(CILP):c.374G>A (p.Arg125Gln) | not specified [RCV004441885] | uncertain significance | 15 | 65206832 | 65206832 | Human | | name |
| 405673767 | CV3293810 | single nucleotide variant | NM_003613.4(CILP):c.407G>A (p.Arg136His) | not specified [RCV004441886] | uncertain significance | 15 | 65206799 | 65206799 | Human | | name |
| 405673770 | CV3293811 | single nucleotide variant | NM_003613.4(CILP):c.518G>A (p.Arg173His) | not specified [RCV004441887] | uncertain significance | 15 | 65205373 | 65205373 | Human | | name |
| 405673774 | CV3293812 | single nucleotide variant | NM_003613.4(CILP):c.743A>G (p.Lys248Arg) | not specified [RCV004441888] | uncertain significance | 15 | 65204444 | 65204444 | Human | | name |
| 405673776 | CV3293813 | single nucleotide variant | NM_003613.4(CILP):c.772A>G (p.Ser258Gly) | not specified [RCV004441889] | uncertain significance | 15 | 65204415 | 65204415 | Human | | name |
| 405673780 | CV3293814 | single nucleotide variant | NM_003613.4(CILP):c.959G>A (p.Arg320Gln) | not specified [RCV004441890] | uncertain significance | 15 | 65203431 | 65203431 | Human | | name |
| 407456340 | CV3419129 | single nucleotide variant | NM_003613.4(CILP):c.660G>C (p.Met220Ile) | not specified [RCV004610689] | uncertain significance | 15 | 65204527 | 65204527 | Human | | name |
| 407456350 | CV3419132 | single nucleotide variant | NM_003613.4(CILP):c.329A>G (p.His110Arg) | not specified [RCV004610692] | uncertain significance | 15 | 65206877 | 65206877 | Human | | name |
| 597781038 | CV3650267 | single nucleotide variant | NM_003613.4(CILP):c.437G>A (p.Arg146Gln) | not specified [RCV004899663] | uncertain significance | 15 | 65205454 | 65205454 | Human | | name |
| 597781557 | CV3650270 | single nucleotide variant | NM_003613.4(CILP):c.859C>T (p.Leu287Phe) | not specified [RCV004899666] | uncertain significance | 15 | 65204328 | 65204328 | Human | | name |
| 597781545 | CV3650274 | single nucleotide variant | NM_003613.4(CILP):c.934G>T (p.Val312Leu) | not specified [RCV004899669] | uncertain significance | 15 | 65203456 | 65203456 | Human | | name |
| 597781537 | CV3650276 | single nucleotide variant | NM_003613.4(CILP):c.938T>C (p.Met313Thr) | not specified [RCV004899671] | uncertain significance | 15 | 65203452 | 65203452 | Human | | name |
| 597781525 | CV3650279 | single nucleotide variant | NM_003613.4(CILP):c.317G>A (p.Gly106Asp) | not specified [RCV004899674] | uncertain significance | 15 | 65206889 | 65206889 | Human | | name |
| 597781502 | CV3650285 | single nucleotide variant | NM_003613.4(CILP):c.645C>G (p.Asp215Glu) | not specified [RCV004899679] | uncertain significance | 15 | 65204542 | 65204542 | Human | | name |
| 597781494 | CV3650287 | single nucleotide variant | NM_003613.4(CILP):c.860T>A (p.Leu287His) | not specified [RCV004899681] | uncertain significance | 15 | 65204327 | 65204327 | Human | | name |
| 598230806 | CV3948076 | single nucleotide variant | NM_003613.4(CILP):c.403G>A (p.Val135Ile) | not specified [RCV005319460] | uncertain significance | 15 | 65206803 | 65206803 | Human | | name |
| 598230849 | CV3948083 | single nucleotide variant | NM_003613.4(CILP):c.305C>T (p.Ala102Val) | not specified [RCV005319467] | uncertain significance | 15 | 65206901 | 65206901 | Human | | name |
| 598230854 | CV3948084 | single nucleotide variant | NM_003613.4(CILP):c.547T>A (p.Ser183Thr) | not specified [RCV005319468] | uncertain significance | 15 | 65205344 | 65205344 | Human | | name |
| 598230866 | CV3948086 | single nucleotide variant | NM_003613.4(CILP):c.764A>G (p.Gln255Arg) | not specified [RCV005319470] | uncertain significance | 15 | 65204423 | 65204423 | Human | | name |
| 598230891 | CV3948090 | single nucleotide variant | NM_003613.4(CILP):c.805C>T (p.Pro269Ser) | not specified [RCV005319474] | uncertain significance | 15 | 65204382 | 65204382 | Human | | name |
| 15147579 | CV714559 | single nucleotide variant | NM_003613.4(CILP):c.3190C>T (p.Leu1064=) | not provided [RCV000967367] | benign | 15 | 65197096 | 65197096 | Human | | name |
| 38460607 | CV919591 | single nucleotide variant | NM_003613.4(CILP):c.787C>T (p.Arg263Ter) | See cases [RCV001196752] | uncertain significance | 15 | 65204400 | 65204400 | Human | | name |
| 126911675 | CV1038344 | single nucleotide variant | NM_003613.4(CILP):c.2759A>G (p.Asp920Gly) | not provided [RCV001355625] | uncertain significance | 15 | 65197527 | 65197527 | Human | | name |
| 8597089 | CV21351 | single nucleotide variant | NM_003613.4(CILP):c.1184T>C (p.Ile395Thr) | CILP-related disorder [RCV003974801]|Lumbar disc disease, susceptibility to [RCV000006692] | risk factor|benign | 15 | 65201874 | 65201874 | Human | | name , trait , alternate_id |
| 155935082 | CV2225488 | single nucleotide variant | NM_003613.4(CILP):c.1709T>C (p.Met570Thr) | not specified [RCV004100881] | uncertain significance | 15 | 65198577 | 65198577 | Human | | name |
| 156118795 | CV2228756 | single nucleotide variant | NM_003613.4(CILP):c.1700A>C (p.Glu567Ala) | not specified [RCV004093226] | uncertain significance | 15 | 65198586 | 65198586 | Human | | name |
| 155923238 | CV2251892 | single nucleotide variant | NM_003613.4(CILP):c.1234C>T (p.Arg412Trp) | not specified [RCV004119868] | uncertain significance | 15 | 65199052 | 65199052 | Human | | name |
| 156002331 | CV2257948 | single nucleotide variant | NM_003613.4(CILP):c.1034A>G (p.His345Arg) | not specified [RCV004129762] | uncertain significance | 15 | 65202024 | 65202024 | Human | | name |
| 156064060 | CV2287049 | single nucleotide variant | NM_003613.4(CILP):c.1477C>T (p.Arg493Trp) | not specified [RCV004144929] | uncertain significance | 15 | 65198809 | 65198809 | Human | | name |
| 156057140 | CV2320669 | single nucleotide variant | NM_003613.4(CILP):c.2147T>G (p.Phe716Cys) | not specified [RCV004172276] | uncertain significance | 15 | 65198139 | 65198139 | Human | | name |
| 156164161 | CV2323655 | single nucleotide variant | NM_003613.4(CILP):c.2981G>A (p.Arg994Gln) | not specified [RCV004165838] | uncertain significance | 15 | 65197305 | 65197305 | Human | | name |
| 156308604 | CV2341637 | single nucleotide variant | NM_003613.4(CILP):c.1789C>T (p.Pro597Ser) | not specified [RCV004182564] | uncertain significance | 15 | 65198497 | 65198497 | Human | | name |
| 156057773 | CV2343574 | single nucleotide variant | NM_003613.4(CILP):c.1942G>A (p.Glu648Lys) | not specified [RCV004190606] | uncertain significance | 15 | 65198344 | 65198344 | Human | | name |
| 155984994 | CV2344950 | single nucleotide variant | NM_003613.4(CILP):c.1951A>G (p.Thr651Ala) | not specified [RCV004193245] | uncertain significance | 15 | 65198335 | 65198335 | Human | | name |
| 156135088 | CV2347181 | single nucleotide variant | NM_003613.4(CILP):c.1546C>T (p.Arg516Cys) | not specified [RCV004204654] | uncertain significance | 15 | 65198740 | 65198740 | Human | | name |
| 156146633 | CV2357949 | single nucleotide variant | NM_003613.4(CILP):c.2194G>C (p.Gly732Arg) | not specified [RCV004209732] | uncertain significance | 15 | 65198092 | 65198092 | Human | | name |
| 156015234 | CV2360242 | single nucleotide variant | NM_003613.4(CILP):c.2529C>A (p.Asn843Lys) | not specified [RCV004208589] | uncertain significance | 15 | 65197757 | 65197757 | Human | | name |
| 156153746 | CV2369420 | single nucleotide variant | NM_003613.4(CILP):c.1765C>A (p.Leu589Met) | not specified [RCV004210366] | uncertain significance | 15 | 65198521 | 65198521 | Human | | name |
| 155995443 | CV2375002 | single nucleotide variant | NM_003613.4(CILP):c.1573A>G (p.Thr525Ala) | not specified [RCV004230057] | uncertain significance | 15 | 65198713 | 65198713 | Human | | name |
| 155954791 | CV2389824 | single nucleotide variant | NM_003613.4(CILP):c.2919G>A (p.Met973Ile) | not specified [RCV004236049] | uncertain significance | 15 | 65197367 | 65197367 | Human | | name |
| 329367833 | CV2427582 | single nucleotide variant | NM_003613.4(CILP):c.1450C>T (p.Arg484Trp) | not specified [RCV004250217] | uncertain significance | 15 | 65198836 | 65198836 | Human | | name |
| 329373892 | CV2434650 | single nucleotide variant | NM_003613.4(CILP):c.1525C>A (p.His509Asn) | not specified [RCV004248371] | uncertain significance | 15 | 65198761 | 65198761 | Human | | name |
| 329374024 | CV2434671 | single nucleotide variant | NM_003613.4(CILP):c.2807G>A (p.Ser936Asn) | not specified [RCV004248390] | uncertain significance | 15 | 65197479 | 65197479 | Human | | name |
| 329390885 | CV2437390 | single nucleotide variant | NM_003613.4(CILP):c.1924C>G (p.Leu642Val) | not specified [RCV004256259] | uncertain significance | 15 | 65198362 | 65198362 | Human | | name |
| 329358286 | CV2450251 | single nucleotide variant | NM_003613.4(CILP):c.1043C>T (p.Thr348Ile) | not specified [RCV004271353] | uncertain significance | 15 | 65202015 | 65202015 | Human | | name |
| 329397983 | CV2466507 | single nucleotide variant | NM_003613.4(CILP):c.1393A>G (p.Ile465Val) | not specified [RCV004274051] | uncertain significance | 15 | 65198893 | 65198893 | Human | | name |
| 401732935 | CV2685376 | single nucleotide variant | NM_003613.4(CILP):c.1075A>C (p.Ser359Arg) | not specified [RCV004292370] | uncertain significance | 15 | 65201983 | 65201983 | Human | | name |
| 401728335 | CV2686012 | single nucleotide variant | NM_003613.4(CILP):c.1478G>A (p.Arg493Gln) | not specified [RCV004297028] | uncertain significance | 15 | 65198808 | 65198808 | Human | | name |
| 401781276 | CV2726479 | single nucleotide variant | NM_003613.4(CILP):c.1395C>G (p.Ile465Met) | not specified [RCV004328667] | uncertain significance | 15 | 65198891 | 65198891 | Human | | name |
| 401764668 | CV2728024 | single nucleotide variant | NM_003613.4(CILP):c.1136A>G (p.Gln379Arg) | not specified [RCV004324149] | uncertain significance | 15 | 65201922 | 65201922 | Human | | name |
| 401746820 | CV2731978 | single nucleotide variant | NM_003613.4(CILP):c.1964G>A (p.Arg655Gln) | not specified [RCV004333213] | uncertain significance | 15 | 65198322 | 65198322 | Human | | name |
| 401877205 | CV2769373 | single nucleotide variant | NM_003613.4(CILP):c.1284C>A (p.Asp428Glu) | not specified [RCV004357363] | uncertain significance | 15 | 65199002 | 65199002 | Human | | name |
| 401893997 | CV2770205 | single nucleotide variant | NM_003613.4(CILP):c.1342C>T (p.Arg448Cys) | not specified [RCV004356096] | uncertain significance | 15 | 65198944 | 65198944 | Human | | name |
| 401863590 | CV2770738 | single nucleotide variant | NM_003613.4(CILP):c.1632G>C (p.Arg544Ser) | not specified [RCV004349780] | uncertain significance | 15 | 65198654 | 65198654 | Human | | name |
| 401865790 | CV2779098 | single nucleotide variant | NM_003613.4(CILP):c.1245T>A (p.His415Gln) | not specified [RCV004348728] | uncertain significance | 15 | 65199041 | 65199041 | Human | | name |
| 401891699 | CV2780678 | single nucleotide variant | NM_003613.4(CILP):c.2941G>A (p.Val981Met) | not specified [RCV004352021] | uncertain significance | 15 | 65197345 | 65197345 | Human | | name |
| 401865470 | CV2786062 | single nucleotide variant | NM_003613.4(CILP):c.1081C>G (p.Leu361Val) | not specified [RCV004359883] | uncertain significance | 15 | 65201977 | 65201977 | Human | | name |
| 401884210 | CV2789615 | single nucleotide variant | NM_003613.4(CILP):c.2470G>A (p.Val824Ile) | not specified [RCV004360217] | uncertain significance | 15 | 65197816 | 65197816 | Human | | name |
| 405277384 | CV3195415 | single nucleotide variant | NM_003613.4(CILP):c.1343G>A (p.Arg448His) | CILP-related disorder [RCV003904202] | benign | 15 | 65198943 | 65198943 | Human | | name , trait , alternate_id |
| 405284171 | CV3196620 | single nucleotide variant | NM_003613.4(CILP):c.2936A>G (p.Gln979Arg) | CILP-related disorder [RCV003979533] | benign | 15 | 65197350 | 65197350 | Human | | name , trait , alternate_id |
| 405272716 | CV3210180 | single nucleotide variant | NM_003613.4(CILP):c.1291C>T (p.Arg431Cys) | CILP-related disorder [RCV003914421] | benign | 15 | 65198995 | 65198995 | Human | | name , trait , alternate_id |
| 405287679 | CV3210752 | single nucleotide variant | NM_003613.4(CILP):c.1457C>T (p.Thr486Met) | CILP-related disorder [RCV003924505] | benign | 15 | 65198829 | 65198829 | Human | | name , trait , alternate_id |
| 405673693 | CV3293789 | single nucleotide variant | NM_003613.4(CILP):c.1195G>A (p.Glu399Lys) | not specified [RCV004441865] | uncertain significance | 15 | 65199091 | 65199091 | Human | | name |
| 405673700 | CV3293791 | single nucleotide variant | NM_003613.4(CILP):c.1412C>G (p.Thr471Arg) | not specified [RCV004441867] | uncertain significance | 15 | 65198874 | 65198874 | Human | | name |
| 405673703 | CV3293792 | single nucleotide variant | NM_003613.4(CILP):c.1516C>T (p.Arg506Cys) | not specified [RCV004441868] | uncertain significance | 15 | 65198770 | 65198770 | Human | | name |
| 405673707 | CV3293793 | single nucleotide variant | NM_003613.4(CILP):c.1616T>C (p.Leu539Pro) | not specified [RCV004441869] | uncertain significance | 15 | 65198670 | 65198670 | Human | | name |
| 405673713 | CV3293794 | single nucleotide variant | NM_003613.4(CILP):c.1691T>G (p.Val564Gly) | not specified [RCV004441870] | uncertain significance | 15 | 65198595 | 65198595 | Human | | name |
| 405673716 | CV3293795 | single nucleotide variant | NM_003613.4(CILP):c.1717C>T (p.Arg573Trp) | not specified [RCV004441871] | uncertain significance | 15 | 65198569 | 65198569 | Human | | name |
| 405673719 | CV3293796 | single nucleotide variant | NM_003613.4(CILP):c.1963C>T (p.Arg655Trp) | not specified [RCV004441872] | uncertain significance | 15 | 65198323 | 65198323 | Human | | name |
| 405673726 | CV3293798 | single nucleotide variant | NM_003613.4(CILP):c.2251C>T (p.Arg751Trp) | not specified [RCV004441874] | uncertain significance | 15 | 65198035 | 65198035 | Human | | name |
| 405673728 | CV3293799 | single nucleotide variant | NM_003613.4(CILP):c.2343G>C (p.Glu781Asp) | not specified [RCV004441875] | uncertain significance | 15 | 65197943 | 65197943 | Human | | name |
| 405673732 | CV3293800 | single nucleotide variant | NM_003613.4(CILP):c.2411A>G (p.Asn804Ser) | not specified [RCV004441876] | uncertain significance | 15 | 65197875 | 65197875 | Human | | name |
| 405673737 | CV3293802 | single nucleotide variant | NM_003613.4(CILP):c.2502A>T (p.Gln834His) | not specified [RCV004441878] | uncertain significance | 15 | 65197784 | 65197784 | Human | | name |
| 405673740 | CV3293803 | single nucleotide variant | NM_003613.4(CILP):c.2593G>A (p.Glu865Lys) | not specified [RCV004441879] | uncertain significance | 15 | 65197693 | 65197693 | Human | | name |
| 405673744 | CV3293804 | single nucleotide variant | NM_003613.4(CILP):c.2980C>T (p.Arg994Trp) | not specified [RCV004441880] | uncertain significance | 15 | 65197306 | 65197306 | Human | | name |
| 407456332 | CV3419126 | single nucleotide variant | NM_003613.4(CILP):c.1547G>A (p.Arg516His) | not specified [RCV004610686] | uncertain significance | 15 | 65198739 | 65198739 | Human | | name |
| 407456346 | CV3419131 | single nucleotide variant | NM_003613.4(CILP):c.2183C>A (p.Thr728Asn) | not specified [RCV004610691] | uncertain significance | 15 | 65198103 | 65198103 | Human | | name |
| 407456359 | CV3419136 | single nucleotide variant | NM_003613.4(CILP):c.1889G>A (p.Arg630Gln) | not specified [RCV004610696] | uncertain significance | 15 | 65198397 | 65198397 | Human | | name |
| 597781041 | CV3650268 | single nucleotide variant | NM_003613.4(CILP):c.1235G>A (p.Arg412Gln) | not specified [RCV004899664] | uncertain significance | 15 | 65199051 | 65199051 | Human | | name |
| 597781553 | CV3650271 | single nucleotide variant | NM_003613.4(CILP):c.2162G>A (p.Arg721Lys) | not specified [RCV004899667] | uncertain significance | 15 | 65198124 | 65198124 | Human | | name |
| 597781549 | CV3650272 | single nucleotide variant | NM_003613.4(CILP):c.2879T>C (p.Ile960Thr) | not specified [RCV004899668] | uncertain significance | 15 | 65197407 | 65197407 | Human | | name |
| 597781529 | CV3650278 | single nucleotide variant | NM_003613.4(CILP):c.2005A>C (p.Thr669Pro) | not specified [RCV004899673] | uncertain significance | 15 | 65198281 | 65198281 | Human | | name |
| 597781521 | CV3650280 | single nucleotide variant | NM_003613.4(CILP):c.1878C>A (p.Phe626Leu) | not specified [RCV004899675] | uncertain significance | 15 | 65198408 | 65198408 | Human | | name |
| 597781514 | CV3650281 | single nucleotide variant | NM_003613.4(CILP):c.2171G>C (p.Arg724Thr) | not specified [RCV004899676] | uncertain significance | 15 | 65198115 | 65198115 | Human | | name |
| 597781506 | CV3650283 | single nucleotide variant | NM_003613.4(CILP):c.2095T>G (p.Trp699Gly) | not specified [RCV004899678] | uncertain significance | 15 | 65198191 | 65198191 | Human | | name |
| 597781498 | CV3650286 | single nucleotide variant | NM_003613.4(CILP):c.2695C>T (p.Leu899Phe) | not specified [RCV004899680] | uncertain significance | 15 | 65197591 | 65197591 | Human | | name |
| 598230789 | CV3948074 | single nucleotide variant | NM_003613.4(CILP):c.2632A>G (p.Met878Val) | not specified [RCV005319458] | uncertain significance | 15 | 65197654 | 65197654 | Human | | name |
| 598230798 | CV3948075 | single nucleotide variant | NM_003613.4(CILP):c.1792A>G (p.Met598Val) | not specified [RCV005319459] | likely benign | 15 | 65198494 | 65198494 | Human | | name |
| 598230812 | CV3948077 | single nucleotide variant | NM_003613.4(CILP):c.1919C>G (p.Thr640Ser) | not specified [RCV005319461] | likely benign | 15 | 65198367 | 65198367 | Human | | name |
| 598230833 | CV3948080 | single nucleotide variant | NM_003613.4(CILP):c.1211C>G (p.Pro404Arg) | not specified [RCV005319464] | uncertain significance | 15 | 65199075 | 65199075 | Human | | name |
| 598230871 | CV3948087 | single nucleotide variant | NM_003613.4(CILP):c.1901C>G (p.Thr634Arg) | not specified [RCV005319471] | uncertain significance | 15 | 65198385 | 65198385 | Human | | name |
| 598230877 | CV3948088 | single nucleotide variant | NM_003613.4(CILP):c.1340G>T (p.Cys447Phe) | not specified [RCV005319472] | uncertain significance | 15 | 65198946 | 65198946 | Human | | name |
| 598230883 | CV3948089 | single nucleotide variant | NM_003613.4(CILP):c.1800A>T (p.Glu600Asp) | not specified [RCV005319473] | uncertain significance | 15 | 65198486 | 65198486 | Human | | name |
| 8635537 | CV90758 | single nucleotide variant | NM_003613.4(CILP):c.2698C>T (p.Arg900Trp) | not specified [RCV004250893] | uncertain significance|not provided | 15 | 65197588 | 65197588 | Human | | name |
| 8635538 | CV90759 | single nucleotide variant | NM_003613.3(CILP):c.2587G>A (p.Asp863Asn) | Malignant melanoma [RCV000070857] | not provided | 15 | 65197699 | 65197699 | Human | | name |
| 8635539 | CV90760 | single nucleotide variant | NM_003613.3(CILP):c.1201C>T (p.Pro401Ser) | Malignant melanoma [RCV000070858] | not provided | 15 | 65199085 | 65199085 | Human | | name |
| 126911668 | CV1038343 | single nucleotide variant | NM_003613.4(CILP):c.3338T>C (p.Val1113Ala) | not provided [RCV001355618] | uncertain significance | 15 | 65196948 | 65196948 | Human | | name |
| 156049926 | CV2242001 | single nucleotide variant | NM_003613.4(CILP):c.3341C>G (p.Ala1114Gly) | not specified [RCV004108947] | uncertain significance | 15 | 65196945 | 65196945 | Human | | name |
| 156094801 | CV2252982 | single nucleotide variant | NM_003613.4(CILP):c.3451C>A (p.Pro1151Thr) | not specified [RCV004120791] | uncertain significance | 15 | 65196835 | 65196835 | Human | | name |
| 156351546 | CV2323780 | single nucleotide variant | NM_003613.4(CILP):c.3169G>A (p.Asp1057Asn) | not specified [RCV004176328] | uncertain significance | 15 | 65197117 | 65197117 | Human | | name |
| 156001868 | CV2391986 | single nucleotide variant | NM_003613.4(CILP):c.3055C>T (p.Arg1019Cys) | not specified [RCV004235846] | uncertain significance | 15 | 65197231 | 65197231 | Human | | name |
| 401767784 | CV2677815 | single nucleotide variant | NM_003613.4(CILP):c.3224G>A (p.Gly1075Asp) | not specified [RCV004294313] | uncertain significance | 15 | 65197062 | 65197062 | Human | | name |
| 401776217 | CV2692638 | single nucleotide variant | NM_003613.4(CILP):c.3376C>T (p.Arg1126Cys) | not specified [RCV004312368] | uncertain significance | 15 | 65196910 | 65196910 | Human | | name |
| 401879362 | CV2758232 | single nucleotide variant | NM_003613.4(CILP):c.3101G>A (p.Arg1034His) | not specified [RCV004341596] | likely benign | 15 | 65197185 | 65197185 | Human | | name |
| 401859006 | CV2775041 | single nucleotide variant | NM_003613.4(CILP):c.3008C>A (p.Ala1003Asp) | not specified [RCV004346420] | uncertain significance | 15 | 65197278 | 65197278 | Human | | name |
| 405288258 | CV3200615 | single nucleotide variant | NM_003613.4(CILP):c.3496G>A (p.Gly1166Ser) | CILP-related disorder [RCV003982328] | benign | 15 | 65196790 | 65196790 | Human | | name , trait , alternate_id |
| 405673748 | CV3293805 | single nucleotide variant | NM_003613.4(CILP):c.3055C>G (p.Arg1019Gly) | not specified [RCV004441881] | uncertain significance | 15 | 65197231 | 65197231 | Human | | name |
| 405673753 | CV3293806 | single nucleotide variant | NM_003613.4(CILP):c.3100C>T (p.Arg1034Cys) | not specified [RCV004441882] | uncertain significance | 15 | 65197186 | 65197186 | Human | | name |
| 405673756 | CV3293807 | single nucleotide variant | NM_003613.4(CILP):c.3367C>G (p.Gln1123Glu) | not specified [RCV004441883] | uncertain significance | 15 | 65196919 | 65196919 | Human | | name |
| 407456338 | CV3419128 | single nucleotide variant | NM_003613.4(CILP):c.3035G>A (p.Gly1012Glu) | not specified [RCV004610688] | uncertain significance | 15 | 65197251 | 65197251 | Human | | name |
| 597781564 | CV3650269 | single nucleotide variant | NM_003613.4(CILP):c.3095G>C (p.Ser1032Thr) | not specified [RCV004899665] | uncertain significance | 15 | 65197191 | 65197191 | Human | | name |
| 597781541 | CV3650275 | single nucleotide variant | NM_003613.4(CILP):c.3280C>T (p.Arg1094Trp) | not specified [RCV004899670] | uncertain significance | 15 | 65197006 | 65197006 | Human | | name |
| 597781349 | CV3650288 | single nucleotide variant | NM_003613.4(CILP):c.3285C>G (p.Cys1095Trp) | not specified [RCV004899682] | uncertain significance | 15 | 65197001 | 65197001 | Human | | name |
| 597781236 | CV3650289 | single nucleotide variant | NM_003613.4(CILP):c.3314G>C (p.Arg1105Thr) | not specified [RCV004899683] | uncertain significance | 15 | 65196972 | 65196972 | Human | | name |
| 598230820 | CV3948078 | single nucleotide variant | NM_003613.4(CILP):c.3271G>A (p.Ala1091Thr) | not specified [RCV005319462] | uncertain significance | 15 | 65197015 | 65197015 | Human | | name |
| 598230827 | CV3948079 | single nucleotide variant | NM_003613.4(CILP):c.3490C>T (p.Arg1164Cys) | not specified [RCV005319463] | uncertain significance | 15 | 65196796 | 65196796 | Human | | name |
| 598230840 | CV3948081 | single nucleotide variant | NM_003613.4(CILP):c.3427G>A (p.Ala1143Thr) | not specified [RCV005319465] | uncertain significance | 15 | 65196859 | 65196859 | Human | | name |
| 598230860 | CV3948085 | single nucleotide variant | NM_003613.4(CILP):c.3157G>A (p.Ala1053Thr) | not specified [RCV005319469] | uncertain significance | 15 | 65197129 | 65197129 | Human | | name |
| 401881732 | CV2767848 | single nucleotide variant | NM_153221.2(CILP2):c.66C>A (p.Asp22Glu) | not specified [RCV004345963] | uncertain significance | 19 | 19539680 | 19539680 | Human | | name |
| 156171379 | CV2247442 | single nucleotide variant | NM_153221.2(CILP2):c.192C>A (p.Asn64Lys) | not specified [RCV004108770] | uncertain significance | 19 | 19540232 | 19540232 | Human | | name |
| 156171394 | CV2247443 | single nucleotide variant | NM_153221.2(CILP2):c.241C>A (p.Arg81Ser) | not specified [RCV004108771] | uncertain significance | 19 | 19540281 | 19540281 | Human | | name |
| 156044078 | CV2342365 | single nucleotide variant | NM_153221.2(CILP2):c.209G>A (p.Gly70Asp) | not specified [RCV004191931] | uncertain significance | 19 | 19540249 | 19540249 | Human | | name |
| 329386994 | CV2452767 | single nucleotide variant | NM_153221.2(CILP2):c.166G>A (p.Ala56Thr) | not specified [RCV004275308] | uncertain significance | 19 | 19540206 | 19540206 | Human | | name |
| 401897465 | CV2787070 | single nucleotide variant | NM_153221.2(CILP2):c.172G>C (p.Glu58Gln) | not specified [RCV004366181] | uncertain significance | 19 | 19540212 | 19540212 | Human | | name |
| 405683615 | CV3293836 | single nucleotide variant | NM_153221.2(CILP2):c.262C>T (p.Arg88Cys) | not specified [RCV004443896] | uncertain significance | 19 | 19540302 | 19540302 | Human | | name |
| 407456395 | CV3419149 | single nucleotide variant | NM_153221.2(CILP2):c.220T>A (p.Phe74Ile) | not specified [RCV004610709] | uncertain significance | 19 | 19540260 | 19540260 | Human | | name |
| 598230904 | CV3948092 | single nucleotide variant | NM_153221.2(CILP2):c.158G>C (p.Trp53Ser) | not specified [RCV005319476] | uncertain significance | 19 | 19539772 | 19539772 | Human | | name |
| 156104408 | CV2207429 | single nucleotide variant | NM_153221.2(CILP2):c.721G>A (p.Asp241Asn) | not specified [RCV004088125] | uncertain significance | 19 | 19542503 | 19542503 | Human | | name |
| 156067066 | CV2317895 | single nucleotide variant | NM_153221.2(CILP2):c.944C>T (p.Ala315Val) | not specified [RCV004175123] | uncertain significance | 19 | 19542939 | 19542939 | Human | | name |
| 329376915 | CV2435741 | single nucleotide variant | NM_153221.2(CILP2):c.715A>G (p.Thr239Ala) | not specified [RCV004253370] | uncertain significance | 19 | 19542497 | 19542497 | Human | | name |
| 329388869 | CV2469521 | single nucleotide variant | NM_153221.2(CILP2):c.902G>C (p.Arg301Pro) | not specified [RCV004282968] | uncertain significance | 19 | 19542897 | 19542897 | Human | | name |
| 401772277 | CV2687471 | single nucleotide variant | NM_153221.2(CILP2):c.547G>T (p.Gly183Trp) | not specified [RCV004300713] | uncertain significance | 19 | 19541201 | 19541201 | Human | | name |
| 401767111 | CV2721554 | single nucleotide variant | NM_153221.2(CILP2):c.815A>C (p.Gln272Pro) | not specified [RCV004316069] | uncertain significance | 19 | 19542597 | 19542597 | Human | | name |
| 401771122 | CV2726371 | single nucleotide variant | NM_153221.2(CILP2):c.891C>A (p.His297Gln) | not specified [RCV004326803] | uncertain significance | 19 | 19542886 | 19542886 | Human | | name |
| 401894629 | CV2785038 | single nucleotide variant | NM_153221.2(CILP2):c.424C>G (p.Arg142Gly) | not specified [RCV004355056] | uncertain significance | 19 | 19540464 | 19540464 | Human | | name |
| 401879212 | CV2787948 | single nucleotide variant | NM_153221.2(CILP2):c.563C>A (p.Ala188Glu) | not specified [RCV004358607] | uncertain significance | 19 | 19541217 | 19541217 | Human | | name |
| 405683635 | CV3293841 | single nucleotide variant | NM_153221.2(CILP2):c.325G>A (p.Val109Ile) | not specified [RCV004443901] | uncertain significance | 19 | 19540365 | 19540365 | Human | | name |
| 405683653 | CV3293846 | single nucleotide variant | NM_153221.2(CILP2):c.521C>T (p.Pro174Leu) | not specified [RCV004443906] | uncertain significance | 19 | 19541175 | 19541175 | Human | | name |
| 405683657 | CV3293847 | single nucleotide variant | NM_153221.2(CILP2):c.740G>A (p.Arg247Gln) | not specified [RCV004443907] | likely benign | 19 | 19542522 | 19542522 | Human | | name |
| 405683660 | CV3293848 | single nucleotide variant | NM_153221.2(CILP2):c.766C>T (p.Arg256Cys) | not specified [RCV004443908] | uncertain significance | 19 | 19542548 | 19542548 | Human | | name |
| 405683665 | CV3293849 | single nucleotide variant | NM_153221.2(CILP2):c.767G>A (p.Arg256His) | not specified [RCV004443909] | likely benign | 19 | 19542549 | 19542549 | Human | | name |
| 405683670 | CV3293850 | single nucleotide variant | NM_153221.2(CILP2):c.811G>A (p.Ala271Thr) | not specified [RCV004443910] | uncertain significance | 19 | 19542593 | 19542593 | Human | | name |
| 407456363 | CV3419137 | single nucleotide variant | NM_153221.2(CILP2):c.913G>T (p.Ala305Ser) | not specified [RCV004610697] | uncertain significance | 19 | 19542908 | 19542908 | Human | | name |
| 407456389 | CV3419147 | single nucleotide variant | NM_153221.2(CILP2):c.829G>A (p.Gly277Arg) | not specified [RCV004610707] | uncertain significance | 19 | 19542611 | 19542611 | Human | | name |
| 597781118 | CV3650293 | single nucleotide variant | NM_153221.2(CILP2):c.814C>A (p.Gln272Lys) | not specified [RCV004899687] | uncertain significance | 19 | 19542596 | 19542596 | Human | | name |
| 597781045 | CV3650296 | single nucleotide variant | NM_153221.2(CILP2):c.550C>A (p.Arg184Ser) | not specified [RCV004899689] | uncertain significance | 19 | 19541204 | 19541204 | Human | | name |
| 597781053 | CV3650298 | single nucleotide variant | NM_153221.2(CILP2):c.739C>T (p.Arg247Trp) | not specified [RCV004899691] | uncertain significance | 19 | 19542521 | 19542521 | Human | | name |
| 597781060 | CV3650300 | single nucleotide variant | NM_153221.2(CILP2):c.850A>T (p.Ile284Phe) | not specified [RCV004899693] | uncertain significance | 19 | 19542632 | 19542632 | Human | | name |
| 597781071 | CV3650303 | single nucleotide variant | NM_153221.2(CILP2):c.476C>T (p.Ser159Leu) | not specified [RCV004899696] | uncertain significance | 19 | 19541130 | 19541130 | Human | | name |
| 597781079 | CV3650305 | single nucleotide variant | NM_153221.2(CILP2):c.791A>G (p.Asp264Gly) | not specified [RCV004899698] | uncertain significance | 19 | 19542573 | 19542573 | Human | | name |
| 597781095 | CV3650309 | single nucleotide variant | NM_153221.2(CILP2):c.494G>A (p.Gly165Asp) | not specified [RCV004899702] | uncertain significance | 19 | 19541148 | 19541148 | Human | | name |
| 597781099 | CV3650310 | single nucleotide variant | NM_153221.2(CILP2):c.350C>T (p.Pro117Leu) | not specified [RCV004899703] | uncertain significance | 19 | 19540390 | 19540390 | Human | | name |
| 597781122 | CV3650317 | single nucleotide variant | NM_153221.2(CILP2):c.550C>T (p.Arg184Cys) | not specified [RCV004899709] | uncertain significance | 19 | 19541204 | 19541204 | Human | | name |
| 598230917 | CV3948094 | single nucleotide variant | NM_153221.2(CILP2):c.640T>A (p.Ser214Thr) | not specified [RCV005319478] | uncertain significance | 19 | 19542422 | 19542422 | Human | | name |
| 598230991 | CV3948103 | single nucleotide variant | NM_153221.2(CILP2):c.883G>A (p.Val295Met) | not specified [RCV005319487] | uncertain significance | 19 | 19542878 | 19542878 | Human | | name |
| 598231040 | CV3948110 | single nucleotide variant | NM_153221.2(CILP2):c.844G>T (p.Val282Phe) | not specified [RCV005319494] | uncertain significance | 19 | 19542626 | 19542626 | Human | | name |
| 598231064 | CV3948113 | single nucleotide variant | NM_153221.2(CILP2):c.874C>G (p.Pro292Ala) | not specified [RCV005319497] | uncertain significance | 19 | 19542869 | 19542869 | Human | | name |
| 598231071 | CV3948115 | single nucleotide variant | NM_153221.2(CILP2):c.356G>A (p.Arg119His) | not specified [RCV005319498] | uncertain significance | 19 | 19540396 | 19540396 | Human | | name |
| 598231085 | CV3948117 | single nucleotide variant | NM_153221.2(CILP2):c.410A>G (p.Tyr137Cys) | not specified [RCV005319500] | uncertain significance | 19 | 19540450 | 19540450 | Human | | name |
| 156134483 | CV2196029 | single nucleotide variant | NM_153221.2(CILP2):c.2872G>A (p.Ala958Thr) | not specified [RCV004072272] | uncertain significance | 19 | 19545417 | 19545417 | Human | | name |
| 155921037 | CV2212092 | single nucleotide variant | NM_153221.2(CILP2):c.2065G>A (p.Gly689Ser) | not specified [RCV004089000] | uncertain significance | 19 | 19544610 | 19544610 | Human | | name |
| 156400876 | CV2217342 | single nucleotide variant | NM_153221.2(CILP2):c.1160C>G (p.Pro387Arg) | not specified [RCV004087779] | uncertain significance | 19 | 19543705 | 19543705 | Human | | name |
| 156021705 | CV2226837 | single nucleotide variant | NM_153221.2(CILP2):c.1121G>A (p.Arg374Gln) | not specified [RCV004103823] | uncertain significance | 19 | 19543391 | 19543391 | Human | | name |
| 156116856 | CV2231723 | single nucleotide variant | NM_153221.2(CILP2):c.2838G>C (p.Gln946His) | not specified [RCV004098545] | uncertain significance | 19 | 19545383 | 19545383 | Human | | name |
| 156070668 | CV2232479 | single nucleotide variant | NM_153221.2(CILP2):c.2394C>A (p.Asp798Glu) | not specified [RCV004099090] | uncertain significance | 19 | 19544939 | 19544939 | Human | | name |
| 156294218 | CV2233621 | single nucleotide variant | NM_153221.2(CILP2):c.2398G>A (p.Asp800Asn) | not specified [RCV004100084] | uncertain significance | 19 | 19544943 | 19544943 | Human | | name |
| 156267288 | CV2243946 | single nucleotide variant | NM_153221.2(CILP2):c.2384C>T (p.Ala795Val) | not specified [RCV004108451] | uncertain significance | 19 | 19544929 | 19544929 | Human | | name |
| 155999254 | CV2261069 | single nucleotide variant | NM_153221.2(CILP2):c.2666G>A (p.Gly889Glu) | not specified [RCV004127717] | likely benign | 19 | 19545211 | 19545211 | Human | | name |
| 156243914 | CV2267304 | single nucleotide variant | NM_153221.2(CILP2):c.1285C>G (p.Arg429Gly) | not specified [RCV004133977] | uncertain significance | 19 | 19543830 | 19543830 | Human | | name |
| 155904277 | CV2298776 | single nucleotide variant | NM_153221.2(CILP2):c.1414C>T (p.Arg472Trp) | not specified [RCV004156334] | uncertain significance | 19 | 19543959 | 19543959 | Human | | name |
| 156197121 | CV2306782 | single nucleotide variant | NM_153221.2(CILP2):c.1172A>G (p.Glu391Gly) | not specified [RCV004159357] | uncertain significance | 19 | 19543717 | 19543717 | Human | | name |
| 156299642 | CV2306869 | single nucleotide variant | NM_153221.2(CILP2):c.2203C>T (p.Arg735Cys) | not specified [RCV004157399] | uncertain significance | 19 | 19544748 | 19544748 | Human | | name |
| 156261137 | CV2314693 | single nucleotide variant | NM_153221.2(CILP2):c.2495T>G (p.Val832Gly) | not specified [RCV004170843] | uncertain significance | 19 | 19545040 | 19545040 | Human | | name |
| 155983076 | CV2344269 | single nucleotide variant | NM_153221.2(CILP2):c.2366A>G (p.Asn789Ser) | not specified [RCV004195037] | uncertain significance | 19 | 19544911 | 19544911 | Human | | name |
| 155986966 | CV2354829 | single nucleotide variant | NM_153221.2(CILP2):c.1127C>T (p.Thr376Ile) | not specified [RCV004191327] | uncertain significance | 19 | 19543397 | 19543397 | Human | | name |
| 155929674 | CV2356984 | single nucleotide variant | NM_153221.2(CILP2):c.1541C>T (p.Pro514Leu) | not specified [RCV004204349] | uncertain significance | 19 | 19544086 | 19544086 | Human | | name |
| 156335909 | CV2360593 | single nucleotide variant | NM_153221.2(CILP2):c.2057C>G (p.Pro686Arg) | not specified [RCV004211350] | uncertain significance | 19 | 19544602 | 19544602 | Human | | name |
| 155916545 | CV2366690 | single nucleotide variant | NM_153221.2(CILP2):c.1816C>T (p.Arg606Trp) | not specified [RCV004210693] | uncertain significance | 19 | 19544361 | 19544361 | Human | | name |
| 156048972 | CV2378156 | single nucleotide variant | NM_153221.2(CILP2):c.2494G>T (p.Val832Leu) | not specified [RCV004233073] | uncertain significance | 19 | 19545039 | 19545039 | Human | | name |
| 155966161 | CV2396034 | single nucleotide variant | NM_153221.2(CILP2):c.2225G>A (p.Arg742His) | not specified [RCV004237576] | uncertain significance | 19 | 19544770 | 19544770 | Human | | name |
| 156255365 | CV2397640 | single nucleotide variant | NM_153221.2(CILP2):c.1786G>A (p.Gly596Ser) | not specified [RCV004237092] | uncertain significance | 19 | 19544331 | 19544331 | Human | | name |
| 329384996 | CV2435143 | single nucleotide variant | NM_153221.2(CILP2):c.1120C>T (p.Arg374Trp) | not specified [RCV004252784] | likely benign | 19 | 19543390 | 19543390 | Human | | name |
| 329392495 | CV2439025 | single nucleotide variant | NM_153221.2(CILP2):c.2270G>C (p.Gly757Ala) | not specified [RCV004264532] | uncertain significance | 19 | 19544815 | 19544815 | Human | | name |
| 329389596 | CV2445225 | single nucleotide variant | NM_153221.2(CILP2):c.1735G>A (p.Ala579Thr) | not specified [RCV004263858] | uncertain significance | 19 | 19544280 | 19544280 | Human | | name |
| 329380784 | CV2464359 | single nucleotide variant | NM_153221.2(CILP2):c.2135G>T (p.Arg712Leu) | not specified [RCV004276305] | uncertain significance | 19 | 19544680 | 19544680 | Human | | name |
| 329380051 | CV2466394 | single nucleotide variant | NM_153221.2(CILP2):c.1324C>T (p.Arg442Cys) | not specified [RCV004273957] | uncertain significance | 19 | 19543869 | 19543869 | Human | | name |
| 401781936 | CV2690010 | single nucleotide variant | NM_153221.2(CILP2):c.1159C>T (p.Pro387Ser) | not specified [RCV004299888] | uncertain significance | 19 | 19543704 | 19543704 | Human | | name |
| 401763819 | CV2700194 | single nucleotide variant | NM_153221.2(CILP2):c.2183A>G (p.Asn728Ser) | not specified [RCV004309053] | uncertain significance | 19 | 19544728 | 19544728 | Human | | name |
| 401772000 | CV2723017 | single nucleotide variant | NM_153221.2(CILP2):c.2940C>A (p.Asp980Glu) | not specified [RCV004327187] | uncertain significance | 19 | 19545485 | 19545485 | Human | | name |
| 401888611 | CV2757872 | single nucleotide variant | NM_153221.2(CILP2):c.2233G>C (p.Ala745Pro) | not specified [RCV004337013] | uncertain significance | 19 | 19544778 | 19544778 | Human | | name |
| 401882139 | CV2774712 | single nucleotide variant | NM_153221.2(CILP2):c.1472C>G (p.Ala491Gly) | not specified [RCV004343817] | uncertain significance | 19 | 19544017 | 19544017 | Human | | name |
| 401882142 | CV2774713 | single nucleotide variant | NM_153221.2(CILP2):c.1499T>C (p.Ile500Thr) | not specified [RCV004343818] | uncertain significance | 19 | 19544044 | 19544044 | Human | | name |
| 401876564 | CV2782964 | single nucleotide variant | NM_153221.2(CILP2):c.1704C>G (p.Asn568Lys) | not specified [RCV004361758] | uncertain significance | 19 | 19544249 | 19544249 | Human | | name |
| 405673784 | CV3293815 | single nucleotide variant | NM_153221.2(CILP2):c.1102G>A (p.Val368Met) | not specified [RCV004441891] | uncertain significance | 19 | 19543372 | 19543372 | Human | | name |
| 405673788 | CV3293816 | single nucleotide variant | NM_153221.2(CILP2):c.1156G>A (p.Asp386Asn) | not specified [RCV004441892] | uncertain significance | 19 | 19543701 | 19543701 | Human | | name |
| 405673792 | CV3293817 | single nucleotide variant | NM_153221.2(CILP2):c.1173G>C (p.Glu391Asp) | not specified [RCV004441893] | uncertain significance | 19 | 19543718 | 19543718 | Human | | name |
| 405673794 | CV3293818 | single nucleotide variant | NM_153221.2(CILP2):c.1255C>G (p.Arg419Gly) | not specified [RCV004441894] | uncertain significance | 19 | 19543800 | 19543800 | Human | | name |
| 405673799 | CV3293819 | single nucleotide variant | NM_153221.2(CILP2):c.1256G>A (p.Arg419His) | not specified [RCV004441895] | likely benign | 19 | 19543801 | 19543801 | Human | | name |
| 405673810 | CV3293822 | single nucleotide variant | NM_153221.2(CILP2):c.1456G>A (p.Glu486Lys) | not specified [RCV004441898] | uncertain significance | 19 | 19544001 | 19544001 | Human | | name |
| 405673813 | CV3293823 | single nucleotide variant | NM_153221.2(CILP2):c.1522G>A (p.Asp508Asn) | not specified [RCV004441899] | uncertain significance | 19 | 19544067 | 19544067 | Human | | name |
| 405673817 | CV3293824 | single nucleotide variant | NM_153221.2(CILP2):c.1532T>C (p.Ile511Thr) | not specified [RCV004441900] | uncertain significance | 19 | 19544077 | 19544077 | Human | | name |
| 405673822 | CV3293825 | single nucleotide variant | NM_153221.2(CILP2):c.1554G>T (p.Gln518His) | not specified [RCV004441901] | uncertain significance | 19 | 19544099 | 19544099 | Human | | name |
| 405673826 | CV3293826 | single nucleotide variant | NM_153221.2(CILP2):c.1590G>C (p.Glu530Asp) | not specified [RCV004441902] | uncertain significance | 19 | 19544135 | 19544135 | Human | | name |
| 405674064 | CV3293827 | single nucleotide variant | NM_153221.2(CILP2):c.1738C>T (p.Pro580Ser) | not specified [RCV004441903] | uncertain significance | 19 | 19544283 | 19544283 | Human | | name |
| 405674059 | CV3293828 | single nucleotide variant | NM_153221.2(CILP2):c.1862C>T (p.Ala621Val) | not specified [RCV004441904] | uncertain significance | 19 | 19544407 | 19544407 | Human | | name |
| 405674055 | CV3293829 | single nucleotide variant | NM_153221.2(CILP2):c.1915A>T (p.Thr639Ser) | not specified [RCV004441905] | uncertain significance | 19 | 19544460 | 19544460 | Human | | name |
| 405674048 | CV3293831 | single nucleotide variant | NM_153221.2(CILP2):c.1988T>G (p.Val663Gly) | not specified [RCV004441907] | uncertain significance | 19 | 19544533 | 19544533 | Human | | name |
| 405683599 | CV3293832 | single nucleotide variant | NM_153221.2(CILP2):c.2264T>C (p.Val755Ala) | not specified [RCV004443892] | uncertain significance | 19 | 19544809 | 19544809 | Human | | name |
| 405683602 | CV3293833 | single nucleotide variant | NM_153221.2(CILP2):c.2326C>T (p.Arg776Cys) | not specified [RCV004443893] | uncertain significance | 19 | 19544871 | 19544871 | Human | | name |
| 405683607 | CV3293834 | single nucleotide variant | NM_153221.2(CILP2):c.2339G>T (p.Arg780Leu) | not specified [RCV004443894] | uncertain significance | 19 | 19544884 | 19544884 | Human | | name |
| 405683611 | CV3293835 | single nucleotide variant | NM_153221.2(CILP2):c.2566C>A (p.Arg856Ser) | not specified [RCV004443895] | uncertain significance | 19 | 19545111 | 19545111 | Human | | name |
| 407456366 | CV3419138 | single nucleotide variant | NM_153221.2(CILP2):c.1504T>A (p.Phe502Ile) | not specified [RCV004610698] | uncertain significance | 19 | 19544049 | 19544049 | Human | | name |
| 407456371 | CV3419140 | single nucleotide variant | NM_153221.2(CILP2):c.2228C>T (p.Ala743Val) | not specified [RCV004610700] | uncertain significance | 19 | 19544773 | 19544773 | Human | | name |
| 407456374 | CV3419141 | single nucleotide variant | NM_153221.2(CILP2):c.1109C>T (p.Ser370Leu) | not specified [RCV004610701] | uncertain significance | 19 | 19543379 | 19543379 | Human | | name |
| 407456376 | CV3419142 | single nucleotide variant | NM_153221.2(CILP2):c.1754T>G (p.Val585Gly) | not specified [RCV004610702] | uncertain significance | 19 | 19544299 | 19544299 | Human | | name |
| 407456379 | CV3419143 | single nucleotide variant | NM_153221.2(CILP2):c.1444G>T (p.Ala482Ser) | not specified [RCV004610703] | uncertain significance | 19 | 19543989 | 19543989 | Human | | name |
| 407456382 | CV3419144 | single nucleotide variant | NM_153221.2(CILP2):c.2345A>G (p.Asp782Gly) | not specified [RCV004610704] | uncertain significance | 19 | 19544890 | 19544890 | Human | | name |
| 407456383 | CV3419145 | single nucleotide variant | NM_153221.2(CILP2):c.2693G>A (p.Arg898His) | not specified [RCV004610705] | uncertain significance | 19 | 19545238 | 19545238 | Human | | name |
| 407456387 | CV3419146 | single nucleotide variant | NM_153221.2(CILP2):c.1991G>A (p.Arg664Gln) | not specified [RCV004610706] | uncertain significance | 19 | 19544536 | 19544536 | Human | | name |
| 407456399 | CV3419151 | single nucleotide variant | NM_153221.2(CILP2):c.1720G>A (p.Glu574Lys) | not specified [RCV004610711] | uncertain significance | 19 | 19544265 | 19544265 | Human | | name |
| 407456403 | CV3419152 | single nucleotide variant | NM_153221.2(CILP2):c.1675C>T (p.Pro559Ser) | not specified [RCV004610712] | uncertain significance | 19 | 19544220 | 19544220 | Human | | name |
| 597781232 | CV3650290 | single nucleotide variant | NM_153221.2(CILP2):c.2033C>A (p.Ala678Asp) | not specified [RCV004899684] | uncertain significance | 19 | 19544578 | 19544578 | Human | | name |
| 597781225 | CV3650291 | single nucleotide variant | NM_153221.2(CILP2):c.2032G>A (p.Ala678Thr) | not specified [RCV004899685] | uncertain significance | 19 | 19544577 | 19544577 | Human | | name |
| 597781221 | CV3650292 | single nucleotide variant | NM_153221.2(CILP2):c.2960C>G (p.Ser987Trp) | not specified [RCV004899686] | uncertain significance | 19 | 19545505 | 19545505 | Human | | name |
| 597781056 | CV3650299 | single nucleotide variant | NM_153221.2(CILP2):c.2724G>C (p.Glu908Asp) | not specified [RCV004899692] | uncertain significance | 19 | 19545269 | 19545269 | Human | | name |
| 597781064 | CV3650301 | single nucleotide variant | NM_153221.2(CILP2):c.1250A>G (p.Asp417Gly) | not specified [RCV004899694] | uncertain significance | 19 | 19543795 | 19543795 | Human | | name |
| 597781068 | CV3650302 | single nucleotide variant | NM_153221.2(CILP2):c.2063C>G (p.Thr688Ser) | not specified [RCV004899695] | uncertain significance | 19 | 19544608 | 19544608 | Human | | name |
| 597781083 | CV3650306 | single nucleotide variant | NM_153221.2(CILP2):c.1012C>T (p.His338Tyr) | not specified [RCV004899699] | uncertain significance | 19 | 19543282 | 19543282 | Human | | name |
| 597781087 | CV3650307 | single nucleotide variant | NM_153221.2(CILP2):c.1535A>C (p.Glu512Ala) | not specified [RCV004899700] | uncertain significance | 19 | 19544080 | 19544080 | Human | | name |
| 597781091 | CV3650308 | single nucleotide variant | NM_153221.2(CILP2):c.2504C>T (p.Thr835Ile) | not specified [RCV004899701] | uncertain significance | 19 | 19545049 | 19545049 | Human | | name |
| 597781103 | CV3650311 | single nucleotide variant | NM_153221.2(CILP2):c.1768G>A (p.Ala590Thr) | not specified [RCV004899704] | uncertain significance | 19 | 19544313 | 19544313 | Human | | name |
| 597781107 | CV3650312 | single nucleotide variant | NM_153221.2(CILP2):c.1168C>G (p.Arg390Gly) | not specified [RCV004899705] | uncertain significance | 19 | 19543713 | 19543713 | Human | | name |
| 597781111 | CV3650313 | single nucleotide variant | NM_153221.2(CILP2):c.2649C>A (p.Ser883Arg) | not specified [RCV004899706] | uncertain significance | 19 | 19545194 | 19545194 | Human | | name |
| 597781568 | CV3650314 | single nucleotide variant | NM_153221.2(CILP2):c.2375G>A (p.Cys792Tyr) | not specified [RCV004899707] | uncertain significance | 19 | 19544920 | 19544920 | Human | | name |
| 597781572 | CV3650316 | single nucleotide variant | NM_153221.2(CILP2):c.2360G>A (p.Gly787Asp) | not specified [RCV004899708] | uncertain significance | 19 | 19544905 | 19544905 | Human | | name |
| 598230924 | CV3948095 | single nucleotide variant | NM_153221.2(CILP2):c.2272G>A (p.Val758Met) | not specified [RCV005319479] | uncertain significance | 19 | 19544817 | 19544817 | Human | | name |
| 598230933 | CV3948096 | single nucleotide variant | NM_153221.2(CILP2):c.1049G>A (p.Arg350His) | not specified [RCV005319480] | likely benign | 19 | 19543319 | 19543319 | Human | | name |
| 598230943 | CV3948097 | single nucleotide variant | NM_153221.2(CILP2):c.2003G>C (p.Ser668Thr) | not specified [RCV005319481] | uncertain significance | 19 | 19544548 | 19544548 | Human | | name |
| 598230950 | CV3948098 | single nucleotide variant | NM_153221.2(CILP2):c.1048C>T (p.Arg350Cys) | not specified [RCV005319482] | uncertain significance | 19 | 19543318 | 19543318 | Human | | name |
| 598230958 | CV3948099 | single nucleotide variant | NM_153221.2(CILP2):c.1306C>T (p.Arg436Cys) | not specified [RCV005319483] | uncertain significance | 19 | 19543851 | 19543851 | Human | | name |
| 598230966 | CV3948100 | single nucleotide variant | NM_153221.2(CILP2):c.2282C>T (p.Thr761Met) | not specified [RCV005319484] | uncertain significance | 19 | 19544827 | 19544827 | Human | | name |
| 598230975 | CV3948101 | single nucleotide variant | NM_153221.2(CILP2):c.1253C>G (p.Thr418Ser) | not specified [RCV005319485] | uncertain significance | 19 | 19543798 | 19543798 | Human | | name |
| 598230982 | CV3948102 | single nucleotide variant | NM_153221.2(CILP2):c.2578C>G (p.Arg860Gly) | not specified [RCV005319486] | uncertain significance | 19 | 19545123 | 19545123 | Human | | name |
| 598231005 | CV3948105 | single nucleotide variant | NM_153221.2(CILP2):c.1984G>A (p.Ala662Thr) | not specified [RCV005319489] | likely benign | 19 | 19544529 | 19544529 | Human | | name |
| 598231012 | CV3948106 | single nucleotide variant | NM_153221.2(CILP2):c.1153T>G (p.Cys385Gly) | not specified [RCV005319490] | uncertain significance | 19 | 19543698 | 19543698 | Human | | name |
| 598231021 | CV3948107 | single nucleotide variant | NM_153221.2(CILP2):c.2327G>T (p.Arg776Leu) | not specified [RCV005319491] | uncertain significance | 19 | 19544872 | 19544872 | Human | | name |
| 598231028 | CV3948108 | single nucleotide variant | NM_153221.2(CILP2):c.2348G>A (p.Ser783Asn) | not specified [RCV005319492] | uncertain significance | 19 | 19544893 | 19544893 | Human | | name |
| 598231048 | CV3948111 | single nucleotide variant | NM_153221.2(CILP2):c.2200C>A (p.Arg734Ser) | not specified [RCV005319495] | uncertain significance | 19 | 19544745 | 19544745 | Human | | name |
| 598231055 | CV3948112 | single nucleotide variant | NM_153221.2(CILP2):c.2774A>G (p.Asp925Gly) | not specified [RCV005319496] | uncertain significance | 19 | 19545319 | 19545319 | Human | | name |
| 598231077 | CV3948116 | single nucleotide variant | NM_153221.2(CILP2):c.1823C>A (p.Thr608Lys) | not specified [RCV005319499] | uncertain significance | 19 | 19544368 | 19544368 | Human | | name |
| 156129455 | CV2209798 | single nucleotide variant | NM_153221.2(CILP2):c.3389G>A (p.Arg1130His) | not specified [RCV004076268] | uncertain significance | 19 | 19545934 | 19545934 | Human | | name |
| 156329838 | CV2213913 | single nucleotide variant | NM_153221.2(CILP2):c.3395A>C (p.Glu1132Ala) | not specified [RCV004083644] | uncertain significance | 19 | 19545940 | 19545940 | Human | | name |
| 156026263 | CV2242335 | single nucleotide variant | NM_153221.2(CILP2):c.3065C>T (p.Ala1022Val) | not specified [RCV004111346] | uncertain significance | 19 | 19545610 | 19545610 | Human | | name |
| 156071708 | CV2251437 | single nucleotide variant | NM_153221.2(CILP2):c.3463C>G (p.Arg1155Gly) | not specified [RCV004117418] | uncertain significance | 19 | 19546008 | 19546008 | Human | | name |
| 155906091 | CV2357257 | single nucleotide variant | NM_153221.2(CILP2):c.3451C>T (p.Arg1151Trp) | not specified [RCV004200156] | uncertain significance | 19 | 19545996 | 19545996 | Human | | name |
| 156137523 | CV2375770 | single nucleotide variant | NM_153221.2(CILP2):c.3046G>A (p.Gly1016Ser) | not specified [RCV004224357] | uncertain significance | 19 | 19545591 | 19545591 | Human | | name |
| 401777021 | CV2707659 | single nucleotide variant | NM_153221.2(CILP2):c.3115C>A (p.Pro1039Thr) | not specified [RCV004306921] | uncertain significance | 19 | 19545660 | 19545660 | Human | | name |
| 401759283 | CV2708561 | single nucleotide variant | NM_153221.2(CILP2):c.3110C>A (p.Pro1037Gln) | not specified [RCV004307555] | uncertain significance | 19 | 19545655 | 19545655 | Human | | name |
| 401873008 | CV2761342 | single nucleotide variant | NM_153221.2(CILP2):c.3452G>A (p.Arg1151Gln) | not specified [RCV004341208] | uncertain significance | 19 | 19545997 | 19545997 | Human | | name |
| 401857900 | CV2774097 | single nucleotide variant | NM_153221.2(CILP2):c.3134C>T (p.Ala1045Val) | not specified [RCV004345693] | uncertain significance | 19 | 19545679 | 19545679 | Human | | name |
| 405683619 | CV3293837 | single nucleotide variant | NM_153221.2(CILP2):c.3028G>A (p.Val1010Met) | not specified [RCV004443897] | uncertain significance | 19 | 19545573 | 19545573 | Human | | name |
| 405683622 | CV3293838 | single nucleotide variant | NM_153221.2(CILP2):c.3107C>G (p.Pro1036Arg) | not specified [RCV004443898] | uncertain significance | 19 | 19545652 | 19545652 | Human | | name |
| 405683626 | CV3293839 | single nucleotide variant | NM_153221.2(CILP2):c.3236G>A (p.Arg1079His) | not specified [RCV004443899] | uncertain significance | 19 | 19545781 | 19545781 | Human | | name |
| 405683630 | CV3293840 | single nucleotide variant | NM_153221.2(CILP2):c.3259G>A (p.Gly1087Ser) | not specified [RCV004443900] | uncertain significance | 19 | 19545804 | 19545804 | Human | | name |
| 405683639 | CV3293842 | single nucleotide variant | NM_153221.2(CILP2):c.3293C>T (p.Thr1098Ile) | not specified [RCV004443902] | uncertain significance | 19 | 19545838 | 19545838 | Human | | name |
| 405683643 | CV3293843 | single nucleotide variant | NM_153221.2(CILP2):c.3328G>A (p.Gly1110Arg) | not specified [RCV004443903] | uncertain significance | 19 | 19545873 | 19545873 | Human | | name |
| 405683645 | CV3293844 | single nucleotide variant | NM_153221.2(CILP2):c.3332G>A (p.Arg1111Gln) | not specified [RCV004443904] | uncertain significance | 19 | 19545877 | 19545877 | Human | | name |
| 405683651 | CV3293845 | single nucleotide variant | NM_153221.2(CILP2):c.3339C>A (p.Ser1113Arg) | not specified [RCV004443905] | uncertain significance | 19 | 19545884 | 19545884 | Human | | name |
| 407456392 | CV3419148 | single nucleotide variant | NM_153221.2(CILP2):c.3284A>T (p.Asp1095Val) | not specified [RCV004610708] | uncertain significance | 19 | 19545829 | 19545829 | Human | | name |
| 597781114 | CV3650295 | single nucleotide variant | NM_153221.2(CILP2):c.3059G>T (p.Arg1020Leu) | not specified [RCV004899688] | uncertain significance | 19 | 19545604 | 19545604 | Human | | name |
| 597781049 | CV3650297 | single nucleotide variant | NM_153221.2(CILP2):c.3442C>T (p.Arg1148Cys) | not specified [RCV004899690] | uncertain significance | 19 | 19545987 | 19545987 | Human | | name |
| 597781075 | CV3650304 | single nucleotide variant | NM_153221.2(CILP2):c.3403G>A (p.Glu1135Lys) | not specified [RCV004899697] | uncertain significance | 19 | 19545948 | 19545948 | Human | | name |
| 598231034 | CV3948109 | single nucleotide variant | NM_153221.2(CILP2):c.3058C>G (p.Arg1020Gly) | not specified [RCV005319493] | uncertain significance | 19 | 19545603 | 19545603 | Human | | name |
