| 156191385 | CV2356853 | single nucleotide variant | NM_001007559.3(SS18):c.86A>G (p.Asn29Ser) | not specified [RCV004204231] | uncertain significance | 18 | 26087561 | 26087561 | Human | | name |
| 401857068 | CV2766146 | single nucleotide variant | NM_001007559.3(SS18):c.56C>T (p.Ala19Val) | not specified [RCV004340596] | uncertain significance | 18 | 26090514 | 26090514 | Human | | name |
| 156170433 | CV2273536 | single nucleotide variant | NM_001007559.3(SS18):c.238A>T (p.Thr80Ser) | not specified [RCV004134067] | uncertain significance | 18 | 26057736 | 26057736 | Human | | name |
| 598174008 | CV3922842 | single nucleotide variant | NM_001007559.3(SS18):c.190A>G (p.Ile64Val) | not specified [RCV005285284] | uncertain significance | 18 | 26078117 | 26078117 | Human | | name |
| 156272080 | CV2247290 | single nucleotide variant | NM_001007559.3(SS18):c.877G>A (p.Asp293Asn) | not specified [RCV004115064] | uncertain significance | 18 | 26038558 | 26038558 | Human | | name |
| 156062476 | CV2277211 | single nucleotide variant | NM_001007559.3(SS18):c.594G>T (p.Met198Ile) | not specified [RCV004142839] | likely benign | 18 | 26052637 | 26052637 | Human | | name |
| 156188494 | CV2292549 | single nucleotide variant | NM_001007559.3(SS18):c.694A>G (p.Met232Val) | not specified [RCV004150321] | uncertain significance | 18 | 26039370 | 26039370 | Human | | name |
| 329349766 | CV2432231 | single nucleotide variant | NM_001007559.3(SS18):c.588G>A (p.Met196Ile) | not specified [RCV004251161] | uncertain significance | 18 | 26052643 | 26052643 | Human | | name |
| 401744073 | CV2680651 | single nucleotide variant | NM_001007559.3(SS18):c.696G>A (p.Met232Ile) | not specified [RCV004291269] | uncertain significance | 18 | 26039368 | 26039368 | Human | | name |
| 401744231 | CV2691879 | single nucleotide variant | NM_001007559.3(SS18):c.847C>T (p.Pro283Ser) | not specified [RCV004299619] | uncertain significance | 18 | 26038588 | 26038588 | Human | | name |
| 401745778 | CV2707543 | single nucleotide variant | NM_001007559.3(SS18):c.649A>G (p.Met217Val) | not specified [RCV004312911] | uncertain significance | 18 | 26039415 | 26039415 | Human | | name |
| 401856803 | CV2760888 | single nucleotide variant | NM_001007559.3(SS18):c.613A>G (p.Met205Val) | not specified [RCV004336523] | uncertain significance | 18 | 26039451 | 26039451 | Human | | name |
| 401858694 | CV2786317 | single nucleotide variant | NM_001007559.3(SS18):c.836G>A (p.Gly279Glu) | not specified [RCV004361927] | uncertain significance | 18 | 26038599 | 26038599 | Human | | name |
| 407516878 | CV3474900 | single nucleotide variant | NM_001007559.3(SS18):c.809A>G (p.Tyr270Cys) | not specified [RCV004675448] | uncertain significance | 18 | 26038626 | 26038626 | Human | | name |
| 407526029 | CV3474901 | single nucleotide variant | NM_001007559.3(SS18):c.559A>G (p.Met187Val) | not specified [RCV004679510] | uncertain significance | 18 | 26052672 | 26052672 | Human | | name |
| 407516881 | CV3474902 | single nucleotide variant | NM_001007559.3(SS18):c.325A>C (p.Met109Leu) | not specified [RCV004675449] | uncertain significance | 18 | 26057649 | 26057649 | Human | | name |
| 407526032 | CV3474903 | single nucleotide variant | NM_001007559.3(SS18):c.925G>A (p.Gly309Ser) | not specified [RCV004679511] | uncertain significance | 18 | 26035879 | 26035879 | Human | | name |
| 597681200 | CV3611720 | single nucleotide variant | NM_001007559.3(SS18):c.836G>C (p.Gly279Ala) | not specified [RCV004857506] | uncertain significance | 18 | 26038599 | 26038599 | Human | | name |
| 598174001 | CV3922841 | single nucleotide variant | NM_001007559.3(SS18):c.858G>C (p.Met286Ile) | not specified [RCV005285283] | uncertain significance | 18 | 26038577 | 26038577 | Human | | name |
| 598174023 | CV3922844 | single nucleotide variant | NM_001007559.3(SS18):c.911C>T (p.Ser304Leu) | not specified [RCV005285286] | uncertain significance | 18 | 26035893 | 26035893 | Human | | name |
| 151348132 | CV1322398 | single nucleotide variant | NM_001007559.3(SS18):c.1051C>T (p.Gln351Ter) | not provided [RCV001804203] | uncertain significance | 18 | 26035050 | 26035050 | Human | | name |
| 156000559 | CV2257760 | single nucleotide variant | NM_001007559.3(SS18):c.1097G>C (p.Gly366Ala) | not specified [RCV004127827] | uncertain significance | 18 | 26032532 | 26032532 | Human | | name |
| 329350394 | CV2469453 | single nucleotide variant | NM_001007559.3(SS18):c.1174C>T (p.Pro392Ser) | not specified [RCV004282910] | uncertain significance | 18 | 26032455 | 26032455 | Human | | name |
| 405703370 | CV3326936 | single nucleotide variant | NM_001007559.3(SS18):c.1070G>A (p.Gly357Asp) | not specified [RCV004460718] | uncertain significance | 18 | 26035031 | 26035031 | Human | | name |
| 598174015 | CV3922843 | single nucleotide variant | NM_001007559.3(SS18):c.1094A>G (p.Tyr365Cys) | not specified [RCV005285285] | uncertain significance | 18 | 26035007 | 26035007 | Human | | name |
| 598174030 | CV3922845 | single nucleotide variant | NM_001007559.3(SS18):c.1019C>T (p.Pro340Leu) | not specified [RCV005285287] | uncertain significance | 18 | 26035082 | 26035082 | Human | | name |
| 150335798 | CV1173374 | single nucleotide variant | NM_198935.3(SS18L1):c.70-89A>G | not provided [RCV001540710] | benign | 20 | 62158583 | 62158583 | Human | | name |
| 150465511 | CV1268622 | single nucleotide variant | NM_198935.3(SS18L1):c.70-56C>T | not provided [RCV001694318] | benign | 20 | 62158616 | 62158616 | Human | | name |
| 15202905 | CV778587 | deletion | NM_198935.3(SS18L1):c.824-7del | SS18L1-related disorder [RCV003903318]|not provided [RCV000958101] | benign | 20 | 62165415 | 62165415 | Human | | name , trait , alternate_id |
| 150504018 | CV1212599 | single nucleotide variant | NM_198935.3(SS18L1):c.722-23C>G | not provided [RCV001595474] | benign | 20 | 62164122 | 62164122 | Human | | name |
| 150511784 | CV1212835 | single nucleotide variant | NM_198935.3(SS18L1):c.232-25C>T | not provided [RCV001598067] | benign | 20 | 62161411 | 62161411 | Human | | name |
| 150514441 | CV1228221 | single nucleotide variant | NM_198935.3(SS18L1):c.824-31C>T | not provided [RCV001638499] | benign | 20 | 62165391 | 62165391 | Human | | name |
| 150452150 | CV1231666 | single nucleotide variant | NM_198935.3(SS18L1):c.916+15T>C | not provided [RCV001647972] | benign | 20 | 62165529 | 62165529 | Human | | name |
| 150473477 | CV1234286 | single nucleotide variant | NM_198935.3(SS18L1):c.232-43G>A | not provided [RCV001651605] | benign | 20 | 62161393 | 62161393 | Human | | name |
| 150473309 | CV1252386 | single nucleotide variant | NM_198935.3(SS18L1):c.556+83C>T | not provided [RCV001671588] | benign | 20 | 62163014 | 62163014 | Human | | name |
| 150464587 | CV1252720 | single nucleotide variant | NM_198935.3(SS18L1):c.147-35G>A | not provided [RCV001670044] | benign | 20 | 62159842 | 62159842 | Human | | name |
| 150501629 | CV1256347 | single nucleotide variant | NM_198935.3(SS18L1):c.916+61C>T | not provided [RCV001676971] | benign | 20 | 62165575 | 62165575 | Human | | name |
| 150463585 | CV1263827 | single nucleotide variant | NM_198935.3(SS18L1):c.556+91C>T | not provided [RCV001682528] | benign | 20 | 62163022 | 62163022 | Human | | name |
| 150488252 | CV1265219 | single nucleotide variant | NM_198935.3(SS18L1):c.231+81T>C | not provided [RCV001687255] | benign | 20 | 62160042 | 62160042 | Human | | name |
| 150454718 | CV1266059 | single nucleotide variant | NM_198935.3(SS18L1):c.146+62C>A | not provided [RCV001692636] | benign | 20 | 62158810 | 62158810 | Human | | name |
| 405294118 | CV3203467 | single nucleotide variant | NM_198935.3(SS18L1):c.721+10G>A | SS18L1-related disorder [RCV003934000] | likely benign | 20 | 62163632 | 62163632 | Human | | name , trait , alternate_id |
| 150339852 | CV1168449 | single nucleotide variant | NM_198935.3(SS18L1):c.1036+98T>C | not provided [RCV001534668] | benign | 20 | 62172899 | 62172899 | Human | | name |
| 150514377 | CV1211977 | single nucleotide variant | NM_198935.3(SS18L1):c.557-175C>A | not provided [RCV001599046] | benign | 20 | 62163283 | 62163283 | Human | | name |
| 150503377 | CV1212470 | single nucleotide variant | NM_198935.3(SS18L1):c.376+175C>A | not provided [RCV001595345] | benign | 20 | 62161755 | 62161755 | Human | | name |
| 150512554 | CV1213003 | single nucleotide variant | NM_198935.3(SS18L1):c.917-301C>T | not provided [RCV001598235] | benign | 20 | 62172381 | 62172381 | Human | | name |
| 150506374 | CV1213764 | single nucleotide variant | NM_198935.3(SS18L1):c.722-122G>A | not provided [RCV001596021] | benign | 20 | 62164023 | 62164023 | Human | | name |
| 150479046 | CV1221440 | single nucleotide variant | NM_198935.3(SS18L1):c.147-180A>G | not provided [RCV001616519] | benign | 20 | 62159697 | 62159697 | Human | | name |
| 150516950 | CV1227389 | single nucleotide variant | NM_198935.3(SS18L1):c.147-183C>G | not provided [RCV001639490] | benign | 20 | 62159694 | 62159694 | Human | | name |
| 150500922 | CV1238278 | single nucleotide variant | NM_198935.3(SS18L1):c.232-192C>A | not provided [RCV001656708] | benign | 20 | 62161244 | 62161244 | Human | | name |
| 150476948 | CV1239959 | single nucleotide variant | NM_198935.3(SS18L1):c.556+156G>A | not provided [RCV001652137] | benign | 20 | 62163087 | 62163087 | Human | | name |
| 150466978 | CV1240500 | single nucleotide variant | NM_198935.3(SS18L1):c.722-228C>T | not provided [RCV001650261] | benign | 20 | 62163917 | 62163917 | Human | | name |
| 150506599 | CV1242254 | single nucleotide variant | NM_198935.3(SS18L1):c.917-241G>A | not provided [RCV001658608] | benign | 20 | 62172441 | 62172441 | Human | | name |
| 150465721 | CV1255080 | single nucleotide variant | NM_198935.3(SS18L1):c.823+140T>C | not provided [RCV001670253] | benign | 20 | 62164386 | 62164386 | Human | | name |
| 150454873 | CV1261054 | single nucleotide variant | NM_198935.3(SS18L1):c.377-163C>T | not provided [RCV001681251] | benign | 20 | 62162589 | 62162589 | Human | | name |
| 150439630 | CV1266800 | single nucleotide variant | NM_198935.3(SS18L1):c.917-165G>C | not provided [RCV001690235] | benign | 20 | 62172517 | 62172517 | Human | | name |
| 150468369 | CV1267926 | single nucleotide variant | NM_198935.3(SS18L1):c.557-170C>T | not provided [RCV001694789] | benign | 20 | 62163288 | 62163288 | Human | | name |
| 150492563 | CV1268269 | single nucleotide variant | NM_198935.3(SS18L1):c.1037-73A>T | not provided [RCV001688000] | benign | 20 | 62174444 | 62174444 | Human | | name |
| 150465652 | CV1268645 | single nucleotide variant | NM_198935.3(SS18L1):c.824-116G>A | not provided [RCV001694341] | benign | 20 | 62165306 | 62165306 | Human | | name |
| 150497879 | CV1271415 | single nucleotide variant | NM_198935.3(SS18L1):c.557-161A>G | not provided [RCV001689105] | benign | 20 | 62163297 | 62163297 | Human | | name |
| 150461573 | CV1272899 | single nucleotide variant | NM_198935.3(SS18L1):c.557-165G>T | not provided [RCV001693654] | benign | 20 | 62163293 | 62163293 | Human | | name |
| 150475419 | CV1279053 | single nucleotide variant | NM_198935.3(SS18L1):c.722-109C>T | not provided [RCV001713838] | benign | 20 | 62164036 | 62164036 | Human | | name |
| 150436116 | CV1249643 | single nucleotide variant | NM_198935.3(SS18L1):c.1165-225G>A | not provided [RCV001665557] | benign | 20 | 62178957 | 62178957 | Human | | name |
| 150462768 | CV1253708 | deletion | NM_198935.3(SS18L1):c.1037-164del | not provided [RCV001669750] | benign | 20 | 62174352 | 62174352 | Human | | name |
| 150454937 | CV1266101 | single nucleotide variant | NM_198935.3(SS18L1):c.1036+146C>T | not provided [RCV001692678] | benign | 20 | 62172947 | 62172947 | Human | | name |
| 150473737 | CV1252456 | deletion | NM_198935.3(SS18L1):c.916+19_916+31del | not provided [RCV001671658] | benign | 20 | 62165532 | 62165544 | Human | | name |
| 150463509 | CV1263816 | deletion | NM_198935.3(SS18L1):c.916+15_916+16del | not provided [RCV001682517] | benign | 20 | 62165529 | 62165530 | Human | | name |
| 150517244 | CV1226692 | single nucleotide variant | NM_198935.3(SS18L1):c.609C>T (p.Gly203=) | SS18L1-related disorder [RCV003968413]|not provided [RCV001639786] | benign | 20 | 62163510 | 62163510 | Human | | name , trait , alternate_id |
| 150508896 | CV1229757 | single nucleotide variant | NM_198935.3(SS18L1):c.663C>T (p.Ser221=) | SS18L1-related disorder [RCV003910937]|not provided [RCV001636336] | benign | 20 | 62163564 | 62163564 | Human | | name , trait , alternate_id |
| 150489386 | CV1236356 | single nucleotide variant | NM_198935.3(SS18L1):c.477G>A (p.Ser159=) | SS18L1-related disorder [RCV003975777]|not provided [RCV001654497] | benign | 20 | 62162852 | 62162852 | Human | | name , trait , alternate_id |
| 405277259 | CV3195425 | single nucleotide variant | NM_198935.3(SS18L1):c.144G>A (p.Thr48=) | SS18L1-related disorder [RCV003904211] | likely benign | 20 | 62158746 | 62158746 | Human | | name , trait , alternate_id |
| 405270436 | CV3211385 | single nucleotide variant | NM_198935.3(SS18L1):c.945C>T (p.Ala315=) | SS18L1-related disorder [RCV003949283] | likely benign | 20 | 62172710 | 62172710 | Human | | name , trait , alternate_id |
| 405293536 | CV3214264 | single nucleotide variant | NM_198935.3(SS18L1):c.792G>A (p.Ala264=) | SS18L1-related disorder [RCV003931966] | likely benign | 20 | 62164215 | 62164215 | Human | | name , trait , alternate_id |
| 15112460 | CV728763 | single nucleotide variant | NM_198935.3(SS18L1):c.24C>T (p.Ala8=) | SS18L1-related disorder [RCV003920820]|not provided [RCV000894473] | benign | 20 | 62143844 | 62143844 | Human | | name , trait , alternate_id |
| 15153609 | CV728764 | single nucleotide variant | NM_198935.3(SS18L1):c.1056G>A (p.Pro352=) | SS18L1-related disorder [RCV003920497]|not provided [RCV000880043] | benign | 20 | 62174536 | 62174536 | Human | | name , trait , alternate_id |
| 40818065 | CV969106 | single nucleotide variant | NM_198935.3(SS18L1):c.961G>A (p.Ala321Thr) | Amyotrophic lateral sclerosis [RCV001260222]|SS18L1-related disorder [RCV003963161]|not provided [RCV001673040] | benign|uncertain significance | 20 | 62172726 | 62172726 | Human | 2 | name , trait , alternate_id |
| 156338537 | CV2224953 | single nucleotide variant | NM_198935.3(SS18L1):c.7G>A (p.Val3Met) | not specified [RCV004094803] | uncertain significance | 20 | 62143827 | 62143827 | Human | | name |
| 597779440 | CV3611723 | single nucleotide variant | NM_198935.3(SS18L1):c.25C>T (p.Arg9Trp) | not specified [RCV004873563] | uncertain significance | 20 | 62143845 | 62143845 | Human | | name |
| 405703392 | CV3326939 | single nucleotide variant | NM_198935.3(SS18L1):c.57A>C (p.Gln19His) | not specified [RCV004460721] | uncertain significance | 20 | 62143877 | 62143877 | Human | | name |
| 15113111 | CV757640 | single nucleotide variant | NM_198935.3(SS18L1):c.510C>T (p.Ile170=) | not provided [RCV000917034] | likely benign | 20 | 62162885 | 62162885 | Human | | name |
| 15137945 | CV757641 | single nucleotide variant | NM_198935.3(SS18L1):c.786C>A (p.Gly262=) | not provided [RCV000921253] | likely benign | 20 | 62164209 | 62164209 | Human | | name |
| 329356932 | CV2431197 | single nucleotide variant | NM_198935.3(SS18L1):c.233C>T (p.Pro78Leu) | not specified [RCV004250544] | uncertain significance | 20 | 62161437 | 62161437 | Human | | name |
| 401919851 | CV2824553 | single nucleotide variant | NM_198935.3(SS18L1):c.1128G>A (p.Pro376=) | not provided [RCV003431393] | likely benign | 20 | 62174608 | 62174608 | Human | | name |
| 597779436 | CV3611721 | single nucleotide variant | NM_198935.3(SS18L1):c.247A>T (p.Met83Leu) | not specified [RCV004873562] | uncertain significance | 20 | 62161451 | 62161451 | Human | | name |
| 597681216 | CV3611724 | single nucleotide variant | NM_198935.3(SS18L1):c.131C>T (p.Thr44Met) | not specified [RCV004857508] | uncertain significance | 20 | 62158733 | 62158733 | Human | | name |
| 597681223 | CV3611725 | single nucleotide variant | NM_198935.3(SS18L1):c.229G>A (p.Ala77Thr) | not specified [RCV004857509] | uncertain significance | 20 | 62159959 | 62159959 | Human | | name |
| 598174045 | CV3922847 | single nucleotide variant | NM_198935.3(SS18L1):c.101G>A (p.Cys34Tyr) | not specified [RCV005285289] | uncertain significance | 20 | 62158703 | 62158703 | Human | | name |
| 8637421 | CV92647 | single nucleotide variant | NM_198935.2(SS18L1):c.1089C>T (p.Gly363=) | Malignant melanoma [RCV000072745] | not provided | 20 | 62174569 | 62174569 | Human | | name |
| 9481090 | CV153740 | single nucleotide variant | NM_198935.3(SS18L1):c.369T>G (p.Ile123Met) | not provided [RCV000133518] | uncertain significance | 20 | 62161573 | 62161573 | Human | | name |
| 156312355 | CV2196352 | single nucleotide variant | NM_198935.3(SS18L1):c.838G>A (p.Ala280Thr) | not specified [RCV004072527] | uncertain significance | 20 | 62165436 | 62165436 | Human | | name |
| 156389975 | CV2222905 | single nucleotide variant | NM_198935.3(SS18L1):c.472G>A (p.Ala158Thr) | not specified [RCV004101721] | uncertain significance | 20 | 62162847 | 62162847 | Human | | name |
| 155932095 | CV2293883 | single nucleotide variant | NM_198935.3(SS18L1):c.965C>T (p.Ala322Val) | not specified [RCV004155140] | uncertain significance | 20 | 62172730 | 62172730 | Human | | name |
| 155906048 | CV2303235 | single nucleotide variant | NM_198935.3(SS18L1):c.335G>T (p.Gly112Val) | not specified [RCV004156988] | uncertain significance | 20 | 62161539 | 62161539 | Human | | name |
| 155973258 | CV2335896 | single nucleotide variant | NM_198935.3(SS18L1):c.614G>C (p.Ser205Thr) | not specified [RCV004196115] | uncertain significance | 20 | 62163515 | 62163515 | Human | | name |
| 156092665 | CV2381921 | single nucleotide variant | NM_198935.3(SS18L1):c.610G>A (p.Gly204Ser) | not specified [RCV004225859] | uncertain significance | 20 | 62163511 | 62163511 | Human | | name |
| 329377456 | CV2453312 | single nucleotide variant | NM_198935.3(SS18L1):c.678G>A (p.Met226Ile) | not specified [RCV004266942] | uncertain significance | 20 | 62163579 | 62163579 | Human | | name |
| 401745849 | CV2693362 | single nucleotide variant | NM_198935.3(SS18L1):c.578C>T (p.Ala193Val) | not specified [RCV004295323] | uncertain significance | 20 | 62163479 | 62163479 | Human | | name |
| 401887116 | CV2775619 | single nucleotide variant | NM_198935.3(SS18L1):c.763G>A (p.Glu255Lys) | not specified [RCV004350770] | uncertain significance | 20 | 62164186 | 62164186 | Human | | name |
| 405703386 | CV3326938 | single nucleotide variant | NM_198935.3(SS18L1):c.388G>A (p.Val130Met) | not specified [RCV004460720] | uncertain significance | 20 | 62162763 | 62162763 | Human | | name |
| 405703399 | CV3326940 | single nucleotide variant | NM_198935.3(SS18L1):c.681G>A (p.Met227Ile) | not specified [RCV004460722] | uncertain significance | 20 | 62163582 | 62163582 | Human | | name |
| 407526034 | CV3474905 | single nucleotide variant | NM_198935.3(SS18L1):c.946G>A (p.Gly316Arg) | not specified [RCV004679512] | uncertain significance | 20 | 62172711 | 62172711 | Human | | name |
| 597681207 | CV3611722 | single nucleotide variant | NM_198935.3(SS18L1):c.912G>T (p.Glu304Asp) | not specified [RCV004857507] | uncertain significance | 20 | 62165510 | 62165510 | Human | | name |
| 597681231 | CV3611726 | single nucleotide variant | NM_198935.3(SS18L1):c.466G>C (p.Gly156Arg) | not specified [RCV004857510] | uncertain significance | 20 | 62162841 | 62162841 | Human | | name |
| 597687559 | CV3611727 | single nucleotide variant | NM_001370300.1(SS18L2):c.24C>A (p.Asp8Glu) | not specified [RCV004857511] | uncertain significance | 3 | 42590921 | 42590921 | Human | | name |
| 597688982 | CV3611728 | single nucleotide variant | NM_001370300.1(SS18L2):c.20C>T (p.Pro7Leu) | not specified [RCV004873564] | uncertain significance | 3 | 42590917 | 42590917 | Human | | name |
| 598174038 | CV3922846 | single nucleotide variant | NM_198935.3(SS18L1):c.433A>G (p.Met145Val) | not specified [RCV005285288] | uncertain significance | 20 | 62162808 | 62162808 | Human | | name |
| 598174051 | CV3922848 | single nucleotide variant | NM_198935.3(SS18L1):c.428C>T (p.Thr143Ile) | not specified [RCV005285290] | uncertain significance | 20 | 62162803 | 62162803 | Human | | name |
| 598213012 | CV3922849 | single nucleotide variant | NM_198935.3(SS18L1):c.665A>C (p.Gln222Pro) | not specified [RCV005271048] | uncertain significance | 20 | 62163566 | 62163566 | Human | | name |
| 598174063 | CV3922851 | single nucleotide variant | NM_001370300.1(SS18L2):c.14T>A (p.Phe5Tyr) | not specified [RCV005285292] | uncertain significance | 3 | 42590911 | 42590911 | Human | | name |
| 15182243 | CV742494 | single nucleotide variant | NM_198935.3(SS18L1):c.463G>A (p.Ala155Thr) | not provided [RCV000907776] | likely benign | 20 | 62162838 | 62162838 | Human | | name |
| 9481089 | CV153739 | single nucleotide variant | NM_198935.3(SS18L1):c.1162C>T (p.Gln388Ter) | not provided [RCV000133517] | uncertain significance | 20 | 62174642 | 62174642 | Human | | name |
| 155948538 | CV2273504 | single nucleotide variant | NM_198935.3(SS18L1):c.1129T>G (p.Ser377Ala) | not specified [RCV004132248] | uncertain significance | 20 | 62174609 | 62174609 | Human | | name |
| 155963272 | CV2282723 | single nucleotide variant | NM_001370300.1(SS18L2):c.90G>T (p.Gln30His) | not specified [RCV004141585] | uncertain significance | 3 | 42591545 | 42591545 | Human | | name |
| 405703417 | CV3326942 | single nucleotide variant | NM_001370300.1(SS18L2):c.35G>C (p.Gly12Ala) | not specified [RCV004460724] | uncertain significance | 3 | 42590932 | 42590932 | Human | | name |
| 407516884 | CV3474904 | single nucleotide variant | NM_198935.3(SS18L1):c.1069G>A (p.Gly357Ser) | not specified [RCV004675450] | likely benign | 20 | 62174549 | 62174549 | Human | | name |
| 598174059 | CV3922850 | single nucleotide variant | NM_001370300.1(SS18L2):c.86A>G (p.Asp29Gly) | not specified [RCV005285291] | uncertain significance | 3 | 42591541 | 42591541 | Human | | name |
| 156007178 | CV2394328 | single nucleotide variant | NM_001370300.1(SS18L2):c.109G>A (p.Glu37Lys) | not specified [RCV004238549] | uncertain significance | 3 | 42591564 | 42591564 | Human | | name |
| 401749129 | CV2734247 | single nucleotide variant | NM_001370300.1(SS18L2):c.142G>A (p.Val48Met) | not specified [RCV004332518] | uncertain significance | 3 | 42591597 | 42591597 | Human | | name |
| 9481091 | CV153741 | deletion | NM_198935.3(SS18L1):c.660_668del (p.219QGS[1]) | not provided [RCV000133519] | uncertain significance | 20 | 62163556 | 62163564 | Human | | name |