| 407476746 | CV3476588 | single nucleotide variant | NM_145168.3(SDR42E1):c.23A>C (p.Lys8Thr) | not specified [RCV004663554] | uncertain significance | 16 | 82000836 | 82000836 | Human | | name |
| 156151024 | CV2197826 | single nucleotide variant | NM_145168.3(SDR42E1):c.239C>T (p.Ala80Val) | not specified [RCV004077064] | uncertain significance | 16 | 82000054 | 82000054 | Human | | name |
| 156149107 | CV2265327 | single nucleotide variant | NM_145168.3(SDR42E1):c.250A>G (p.Met84Val) | not specified [RCV004128218] | uncertain significance | 16 | 82000043 | 82000043 | Human | | name |
| 156186360 | CV2324724 | single nucleotide variant | NM_145168.3(SDR42E1):c.231C>G (p.Phe77Leu) | not specified [RCV004172963] | uncertain significance | 16 | 82000062 | 82000062 | Human | | name |
| 156346277 | CV2377980 | single nucleotide variant | NM_145168.3(SDR42E1):c.275G>A (p.Arg92Gln) | not specified [RCV004230541] | uncertain significance | 16 | 82000018 | 82000018 | Human | | name |
| 156168754 | CV2399179 | single nucleotide variant | NM_145168.3(SDR42E1):c.175C>T (p.Arg59Cys) | not specified [RCV004246610] | uncertain significance | 16 | 82000118 | 82000118 | Human | | name |
| 329388769 | CV2447847 | single nucleotide variant | NM_145168.3(SDR42E1):c.176G>A (p.Arg59His) | not specified [RCV004258619] | uncertain significance | 16 | 82000117 | 82000117 | Human | | name |
| 405703388 | CV3310534 | single nucleotide variant | NM_145168.3(SDR42E1):c.190G>A (p.Val64Ile) | not specified [RCV004447422] | likely benign | 16 | 82000103 | 82000103 | Human | | name |
| 405703396 | CV3310535 | single nucleotide variant | NM_145168.3(SDR42E1):c.214G>C (p.Asp72His) | not specified [RCV004447423] | uncertain significance | 16 | 82000079 | 82000079 | Human | | name |
| 597714410 | CV3605312 | single nucleotide variant | NM_145168.3(SDR42E1):c.148G>A (p.Gly50Arg) | not specified [RCV004861362] | uncertain significance | 16 | 82000145 | 82000145 | Human | | name |
| 597714440 | CV3605315 | single nucleotide variant | NM_145168.3(SDR42E1):c.225T>G (p.Cys75Trp) | not specified [RCV004861365] | uncertain significance | 16 | 82000068 | 82000068 | Human | | name |
| 155951126 | CV2238730 | single nucleotide variant | NM_145168.3(SDR42E1):c.652A>G (p.Ser218Gly) | not specified [RCV004107617] | uncertain significance | 16 | 81999641 | 81999641 | Human | | name |
| 156120939 | CV2275965 | single nucleotide variant | NM_145168.3(SDR42E1):c.800G>A (p.Arg267Gln) | not specified [RCV004139608] | uncertain significance | 16 | 81999493 | 81999493 | Human | | name |
| 156270366 | CV2315513 | single nucleotide variant | NM_145168.3(SDR42E1):c.778G>C (p.Val260Leu) | not specified [RCV004169564] | uncertain significance | 16 | 81999515 | 81999515 | Human | | name |
| 401742501 | CV2673799 | single nucleotide variant | NM_145168.3(SDR42E1):c.425A>G (p.Tyr142Cys) | not specified [RCV004293183] | uncertain significance | 16 | 81999868 | 81999868 | Human | | name |
| 401729806 | CV2683803 | single nucleotide variant | NM_145168.3(SDR42E1):c.302G>C (p.Arg101Thr) | not specified [RCV004284533] | uncertain significance | 16 | 81999991 | 81999991 | Human | | name |
| 401746704 | CV2691965 | single nucleotide variant | NM_145168.3(SDR42E1):c.611T>C (p.Ile204Thr) | not specified [RCV004301695] | uncertain significance | 16 | 81999682 | 81999682 | Human | | name |
| 401774765 | CV2713629 | single nucleotide variant | NM_145168.3(SDR42E1):c.787T>A (p.Phe263Ile) | not specified [RCV004321002] | uncertain significance | 16 | 81999506 | 81999506 | Human | | name |
| 401774768 | CV2713630 | single nucleotide variant | NM_145168.3(SDR42E1):c.788T>C (p.Phe263Ser) | not specified [RCV004321003] | uncertain significance | 16 | 81999505 | 81999505 | Human | | name |
| 401771580 | CV2722878 | single nucleotide variant | NM_145168.3(SDR42E1):c.643G>T (p.Asp215Tyr) | not specified [RCV004327073] | uncertain significance | 16 | 81999650 | 81999650 | Human | | name |
| 401858077 | CV2759564 | single nucleotide variant | NM_145168.3(SDR42E1):c.353T>C (p.Leu118Ser) | not specified [RCV004338543] | uncertain significance | 16 | 81999940 | 81999940 | Human | | name |
| 401894723 | CV2785130 | single nucleotide variant | NM_145168.3(SDR42E1):c.733C>T (p.His245Tyr) | not specified [RCV004355134] | uncertain significance | 16 | 81999560 | 81999560 | Human | | name |
| 405703402 | CV3310536 | single nucleotide variant | NM_145168.3(SDR42E1):c.436C>A (p.His146Asn) | not specified [RCV004447424] | uncertain significance | 16 | 81999857 | 81999857 | Human | | name |
| 405703412 | CV3310537 | single nucleotide variant | NM_145168.3(SDR42E1):c.501T>G (p.Asn167Lys) | not specified [RCV004447425] | uncertain significance | 16 | 81999792 | 81999792 | Human | | name |
| 405703421 | CV3310538 | single nucleotide variant | NM_145168.3(SDR42E1):c.634G>A (p.Val212Ile) | not specified [RCV004447426] | uncertain significance | 16 | 81999659 | 81999659 | Human | | name |
| 405703430 | CV3310539 | single nucleotide variant | NM_145168.3(SDR42E1):c.745G>A (p.Gly249Arg) | not specified [RCV004447427] | uncertain significance | 16 | 81999548 | 81999548 | Human | | name |
| 405703438 | CV3310540 | single nucleotide variant | NM_145168.3(SDR42E1):c.875T>C (p.Phe292Ser) | not specified [RCV004447428] | uncertain significance | 16 | 81999418 | 81999418 | Human | | name |
| 407476733 | CV3476585 | single nucleotide variant | NM_145168.3(SDR42E1):c.914A>G (p.Tyr305Cys) | not specified [RCV004663551] | uncertain significance | 16 | 81999379 | 81999379 | Human | | name |
| 407476737 | CV3476586 | single nucleotide variant | NM_145168.3(SDR42E1):c.727A>G (p.Lys243Glu) | not specified [RCV004663552] | uncertain significance | 16 | 81999566 | 81999566 | Human | | name |
| 407476741 | CV3476587 | single nucleotide variant | NM_145168.3(SDR42E1):c.649A>G (p.Arg217Gly) | not specified [RCV004663553] | uncertain significance | 16 | 81999644 | 81999644 | Human | | name |
| 597714391 | CV3605310 | single nucleotide variant | NM_145168.3(SDR42E1):c.398T>C (p.Ile133Thr) | not specified [RCV004861360] | uncertain significance | 16 | 81999895 | 81999895 | Human | | name |
| 597714401 | CV3605311 | single nucleotide variant | NM_145168.3(SDR42E1):c.799C>T (p.Arg267Trp) | not specified [RCV004861361] | uncertain significance | 16 | 81999494 | 81999494 | Human | | name |
| 597714421 | CV3605313 | single nucleotide variant | NM_145168.3(SDR42E1):c.598A>G (p.Ile200Val) | not specified [RCV004861363] | uncertain significance | 16 | 81999695 | 81999695 | Human | | name |
| 597714432 | CV3605314 | single nucleotide variant | NM_145168.3(SDR42E1):c.760A>G (p.Ile254Val) | not specified [RCV004861364] | uncertain significance | 16 | 81999533 | 81999533 | Human | | name |
| 597714452 | CV3605316 | single nucleotide variant | NM_145168.3(SDR42E1):c.449A>G (p.Asp150Gly) | not specified [RCV004861366] | uncertain significance | 16 | 81999844 | 81999844 | Human | | name |
| 597714460 | CV3605317 | single nucleotide variant | NM_145168.3(SDR42E1):c.553C>A (p.Pro185Thr) | not specified [RCV004861367] | uncertain significance | 16 | 81999740 | 81999740 | Human | | name |
| 598209880 | CV3907036 | single nucleotide variant | NM_145168.3(SDR42E1):c.490C>G (p.Leu164Val) | not specified [RCV005270587] | uncertain significance | 16 | 81999803 | 81999803 | Human | | name |
| 598209888 | CV3907037 | single nucleotide variant | NM_145168.3(SDR42E1):c.713C>T (p.Ala238Val) | not specified [RCV005270588] | uncertain significance | 16 | 81999580 | 81999580 | Human | | name |
| 598209895 | CV3907038 | single nucleotide variant | NM_145168.3(SDR42E1):c.949T>G (p.Tyr317Asp) | not specified [RCV005270589] | uncertain significance | 16 | 81999344 | 81999344 | Human | | name |
| 598209903 | CV3907039 | single nucleotide variant | NM_145168.3(SDR42E1):c.409G>C (p.Asp137His) | not specified [RCV005270590] | uncertain significance | 16 | 81999884 | 81999884 | Human | | name |
| 8635928 | CV91151 | single nucleotide variant | NM_145168.2(SDR42E1):c.568G>A (p.Gly190Arg) | Malignant melanoma [RCV000071249] | not provided | 16 | 81999725 | 81999725 | Human | | name |
| 156313709 | CV2257052 | single nucleotide variant | NM_145168.3(SDR42E1):c.1172T>C (p.Leu391Pro) | not specified [RCV004123021] | uncertain significance | 16 | 81999121 | 81999121 | Human | | name |
| 156161860 | CV2323486 | single nucleotide variant | NM_145168.3(SDR42E1):c.1091C>T (p.Ser364Leu) | not specified [RCV004165694] | uncertain significance | 16 | 81999202 | 81999202 | Human | | name |
| 156188622 | CV2342256 | single nucleotide variant | NM_145168.3(SDR42E1):c.1000C>A (p.Leu334Ile) | not specified [RCV004191829] | uncertain significance | 16 | 81999293 | 81999293 | Human | | name |
| 156002765 | CV2347719 | single nucleotide variant | NM_145168.3(SDR42E1):c.1064A>G (p.His355Arg) | not specified [RCV004200642] | uncertain significance | 16 | 81999229 | 81999229 | Human | | name |
| 156386731 | CV2364829 | single nucleotide variant | NM_145168.3(SDR42E1):c.1153C>A (p.Leu385Met) | not specified [RCV004219692] | uncertain significance | 16 | 81999140 | 81999140 | Human | | name |
| 401772037 | CV2712048 | single nucleotide variant | NM_145168.3(SDR42E1):c.1111G>C (p.Gly371Arg) | not specified [RCV004311467] | uncertain significance | 16 | 81999182 | 81999182 | Human | | name |
| 405703384 | CV3310533 | single nucleotide variant | NM_145168.3(SDR42E1):c.1163C>T (p.Ser388Phe) | not specified [RCV004447421] | uncertain significance | 16 | 81999130 | 81999130 | Human | | name |
| 598210875 | CV4008075 | insertion | NM_145168.3(SDR42E1):c.*1075_*1076insCAAAAATAACCTAACTAGTGATAAAGTGTATATACTTTAAGAGC | Acromesomelic dysplasia 4 [RCV005400389] | uncertain significance | 16 | 81998035 | 81998036 | Human | 1 | name |