| 28881974 | CV888431 | single nucleotide variant | NM_031955.6(SPATA16):c.-2C>T | Globozoospermia [RCV001149783] | uncertain significance | 3 | 173117733 | 173117733 | Human | 2 | name |
| 28876729 | CV888418 | single nucleotide variant | NM_031955.6(SPATA16):c.*92A>G | Globozoospermia [RCV001148126] | uncertain significance | 3 | 172889478 | 172889478 | Human | 2 | name |
| 11596332 | CV289553 | single nucleotide variant | NM_031955.6(SPATA16):c.-121G>A | Globozoospermia [RCV000380877] | likely benign|uncertain significance | 3 | 173141205 | 173141205 | Human | 2 | name |
| 11591281 | CV289560 | single nucleotide variant | NM_031955.6(SPATA16):c.-142G>A | Globozoospermia [RCV000327538] | uncertain significance | 3 | 173141226 | 173141226 | Human | 2 | name |
| 11646754 | CV293412 | single nucleotide variant | NM_031955.6(SPATA16):c.-141C>T | Spermatogenic Failure [RCV000272518] | uncertain significance | 3 | 173141225 | 173141225 | Human | 1 | name |
| 11595982 | CV293416 | single nucleotide variant | NM_031955.5(SPATA16):c.-159C>A | Spermatogenic Failure [RCV000376890] | uncertain significance | 3 | 173141243 | 173141243 | Human | 1 | name |
| 28876721 | CV888416 | single nucleotide variant | NM_031955.6(SPATA16):c.*157C>T | Globozoospermia [RCV001148124] | uncertain significance | 3 | 172889413 | 172889413 | Human | 2 | name |
| 28876726 | CV888417 | single nucleotide variant | NM_031955.6(SPATA16):c.*138C>A | Globozoospermia [RCV001148125] | uncertain significance | 3 | 172889432 | 172889432 | Human | 2 | name |
| 401936808 | CV2816047 | single nucleotide variant | NM_138796.4(SPATA17):c.158+3A>G | not provided [RCV003414773] | likely benign | 1 | 217648974 | 217648974 | Human | | name |
| 11596464 | CV289545 | deletion | NM_031955.6(SPATA16):c.848+15del | Spermatogenic Failure [RCV000382509] | uncertain significance | 3 | 173019471 | 173019471 | Human | 1 | name |
| 405283652 | CV3191822 | single nucleotide variant | NM_001166271.3(SPATA13):c.-61C>T | SPATA13-related disorder [RCV003921917] | benign | 13 | 24222869 | 24222869 | Human | | name , trait , alternate_id |
| 14693260 | CV620761 | single nucleotide variant | NM_031955.6(SPATA16):c.1588-2A>G | Globozoospermia [RCV000778690] | uncertain significance | 3 | 172889694 | 172889694 | Human | 1 | name |
| 28874660 | CV891621 | single nucleotide variant | NM_031955.6(SPATA16):c.613-13A>G | Globozoospermia [RCV001147308] | uncertain significance | 3 | 173049107 | 173049107 | Human | 2 | name |
| 28881595 | CV891620 | single nucleotide variant | NM_031955.6(SPATA16):c.1503+15T>C | Globozoospermia [RCV001149675] | uncertain significance | 3 | 172916302 | 172916302 | Human | 2 | name |
| 8578375 | CV112756 | single nucleotide variant | NM_031955.5(SPATA16):c.1082-520C>A | Lung cancer [RCV000093279] | uncertain significance | 3 | 172926012 | 172926012 | Human | | name |
| 150494667 | CV1224939 | single nucleotide variant | NM_031955.6(SPATA16):c.1228+275T>C | not provided [RCV001619417] | benign | 3 | 172925071 | 172925071 | Human | | name |
| 8578374 | CV112755 | single nucleotide variant | NM_031955.5(SPATA16):c.1587+7934G>C | Lung cancer [RCV000093278] | uncertain significance | 3 | 172905727 | 172905727 | Human | | name |
| 405271495 | CV3209458 | single nucleotide variant | NM_001166271.3(SPATA13):c.2668-7T>C | SPATA13-related disorder [RCV003949778] | likely benign | 13 | 24288992 | 24288992 | Human | | name , trait , alternate_id |
| 405257797 | CV3210896 | single nucleotide variant | NM_001166271.3(SPATA13):c.2667+8G>A | SPATA13-related disorder [RCV003941361] | likely benign | 13 | 24286958 | 24286958 | Human | | name , trait , alternate_id |
| 405276591 | CV3193417 | single nucleotide variant | NM_001166271.3(SPATA13):c.2165-13279G>C | SPATA13-related disorder [RCV003974585] | benign | 13 | 24270856 | 24270856 | Human | | name , trait , alternate_id |
| 156051954 | CV2238137 | single nucleotide variant | NM_001166271.3(SPATA13):c.2710G>A (p.Val904Ile) | SPATA13-related disorder [RCV003953986]|not specified [RCV004111148] | likely benign|uncertain significance | 13 | 24289041 | 24289041 | Human | | name , trait , alternate_id |
| 11591717 | CV290314 | single nucleotide variant | NM_031955.6(SPATA16):c.1143A>G (p.Gln381=) | Globozoospermia [RCV000331613]|SPATA16-related disorder [RCV004758004]|not provided [RCV004710940] | likely benign|uncertain significance | 3 | 172925431 | 172925431 | Human | 3 | name , trait , alternate_id |
| 11598512 | CV293866 | single nucleotide variant | NM_031955.6(SPATA16):c.328A>C (p.Met110Leu) | Globozoospermia [RCV000406340]|SPATA16-related disorder [RCV003910351] | likely benign|uncertain significance | 3 | 173117404 | 173117404 | Human | 3 | name , trait , alternate_id |
| 405286280 | CV3192117 | single nucleotide variant | NM_001166271.3(SPATA13):c.1991C>T (p.Thr664Met) | SPATA13-related disorder [RCV003924032] | likely benign | 13 | 24249814 | 24249814 | Human | | name , trait , alternate_id |
| 405292740 | CV3192593 | single nucleotide variant | NM_001166271.3(SPATA13):c.102G>A (p.Ser34=) | SPATA13-related disorder [RCV003929842] | likely benign | 13 | 24223031 | 24223031 | Human | | name , trait , alternate_id |
| 405292413 | CV3196233 | single nucleotide variant | NM_001166271.3(SPATA13):c.1439C>T (p.Pro480Leu) | SPATA13-related disorder [RCV003964495] | benign | 13 | 24224368 | 24224368 | Human | | name , trait , alternate_id |
| 405269044 | CV3199188 | single nucleotide variant | NM_001166271.3(SPATA13):c.266G>C (p.Arg89Pro) | SPATA13-related disorder [RCV003912289] | benign | 13 | 24223195 | 24223195 | Human | | name , trait , alternate_id |
| 405279755 | CV3200103 | single nucleotide variant | NM_001166271.3(SPATA13):c.3299C>T (p.Thr1100Met) | SPATA13-related disorder [RCV003977049] | likely benign | 13 | 24297451 | 24297451 | Human | | name , trait , alternate_id |
| 405288220 | CV3200588 | single nucleotide variant | NM_001166271.3(SPATA13):c.1967T>C (p.Val656Ala) | SPATA13-related disorder [RCV003982301] | benign | 13 | 24249790 | 24249790 | Human | | name , trait , alternate_id |
| 405258340 | CV3203206 | single nucleotide variant | NM_001166271.3(SPATA13):c.497C>T (p.Pro166Leu) | SPATA13-related disorder [RCV003941809] | likely benign | 13 | 24223426 | 24223426 | Human | | name , trait , alternate_id |
| 405294084 | CV3203475 | single nucleotide variant | NM_001166271.3(SPATA13):c.2544C>T (p.Asp848=) | SPATA13-related disorder [RCV003934008] | likely benign | 13 | 24286827 | 24286827 | Human | | name , trait , alternate_id |
| 405294089 | CV3203482 | single nucleotide variant | NM_001166271.3(SPATA13):c.2634G>C (p.Arg878=) | SPATA13-related disorder [RCV003934013] | likely benign | 13 | 24286917 | 24286917 | Human | | name , trait , alternate_id |
| 405286738 | CV3205474 | single nucleotide variant | NM_001166271.3(SPATA13):c.3216G>A (p.Leu1072=) | SPATA13-related disorder [RCV003959636] | likely benign | 13 | 24297368 | 24297368 | Human | | name , trait , alternate_id |
| 405255843 | CV3208353 | single nucleotide variant | NM_001166271.3(SPATA13):c.1154C>T (p.Ala385Val) | SPATA13-related disorder [RCV003939463] | benign | 13 | 24224083 | 24224083 | Human | | name , trait , alternate_id |
| 405274431 | CV3208805 | single nucleotide variant | NM_001166271.3(SPATA13):c.2437C>T (p.Arg813Cys) | SPATA13-related disorder [RCV003951608] | benign | 13 | 24286349 | 24286349 | Human | | name , trait , alternate_id |
| 405274463 | CV3208826 | single nucleotide variant | NM_001166271.3(SPATA13):c.1401C>T (p.Thr467=) | SPATA13-related disorder [RCV003951626] | likely benign | 13 | 24224330 | 24224330 | Human | | name , trait , alternate_id |
| 405271906 | CV3209571 | single nucleotide variant | NM_001166271.3(SPATA13):c.714C>T (p.Leu238=) | SPATA13-related disorder [RCV003949867] | likely benign | 13 | 24223643 | 24223643 | Human | | name , trait , alternate_id |
| 405273086 | CV3210347 | single nucleotide variant | NM_001166271.3(SPATA13):c.174C>T (p.Gly58=) | SPATA13-related disorder [RCV003914573] | likely benign | 13 | 24223103 | 24223103 | Human | | name , trait , alternate_id |
| 405255728 | CV3210777 | single nucleotide variant | NM_001166271.3(SPATA13):c.840C>T (p.Ala280=) | SPATA13-related disorder [RCV003939291] | likely benign | 13 | 24223769 | 24223769 | Human | | name , trait , alternate_id |
| 405258755 | CV3215118 | single nucleotide variant | NM_001166271.3(SPATA13):c.3087C>T (p.Tyr1029=) | SPATA13-related disorder [RCV003942173] | likely benign | 13 | 24294745 | 24294745 | Human | | name , trait , alternate_id |
| 405283433 | CV3217145 | single nucleotide variant | NM_001166271.3(SPATA13):c.1933C>T (p.Arg645Trp) | SPATA13-related disorder [RCV003979256] | benign | 13 | 24249756 | 24249756 | Human | | name , trait , alternate_id |
| 15168521 | CV720304 | single nucleotide variant | NM_031955.6(SPATA16):c.1708T>C (p.Ter570Gln) | SPATA16-related disorder [RCV003910397]|not provided [RCV000881782] | benign | 3 | 172889572 | 172889572 | Human | 1 | name , trait , alternate_id |
| 15162572 | CV720305 | single nucleotide variant | NM_031955.6(SPATA16):c.1707G>C (p.Arg569Ser) | SPATA16-related disorder [RCV003910398]|not provided [RCV000881783] | benign | 3 | 172889573 | 172889573 | Human | 1 | name , trait , alternate_id |
| 11591132 | CV290327 | single nucleotide variant | NM_031955.6(SPATA16):c.25T>C (p.Leu9=) | Globozoospermia [RCV000326199] | uncertain significance | 3 | 173117707 | 173117707 | Human | 2 | name |
| 156105270 | CV2387008 | single nucleotide variant | NM_138796.4(SPATA17):c.5C>T (p.Ala2Val) | not specified [RCV004226760] | uncertain significance | 1 | 217631383 | 217631383 | Human | | name |
| 401904959 | CV2827499 | single nucleotide variant | NM_181727.2(SPATA12):c.36A>G (p.Leu12=) | not provided [RCV003437881] | likely benign | 3 | 57073730 | 57073730 | Human | | name |
| 405788865 | CV3330111 | single nucleotide variant | NM_145263.4(SPATA18):c.5C>T (p.Ala2Val) | not specified [RCV004460138] | uncertain significance | 4 | 52051709 | 52051709 | Human | | name |
| 11589490 | CV289548 | single nucleotide variant | NM_031955.6(SPATA16):c.105G>A (p.Ala35=) | Globozoospermia [RCV000310920] | uncertain significance | 3 | 173117627 | 173117627 | Human | 2 | name |
| 597757534 | CV3600851 | single nucleotide variant | NM_174927.3(SPATA19):c.11C>T (p.Thr4Met) | not specified [RCV004868648] | uncertain significance | 11 | 133845436 | 133845436 | Human | | name |
| 28881966 | CV888430 | single nucleotide variant | NM_031955.6(SPATA16):c.117C>T (p.Asn39=) | Globozoospermia [RCV001149781] | uncertain significance | 3 | 173117615 | 173117615 | Human | 2 | name |
| 156027492 | CV2195489 | single nucleotide variant | NM_031955.6(SPATA16):c.80C>G (p.Thr27Arg) | not specified [RCV004082712] | uncertain significance | 3 | 173117652 | 173117652 | Human | | name |
| 329383595 | CV2425037 | single nucleotide variant | NM_138796.4(SPATA17):c.74T>C (p.Val25Ala) | not specified [RCV004250693] | uncertain significance | 1 | 217648887 | 217648887 | Human | | name |
| 11585963 | CV289546 | single nucleotide variant | NM_031955.6(SPATA16):c.576C>T (p.Tyr192=) | Globozoospermia [RCV000284357] | uncertain significance | 3 | 173117156 | 173117156 | Human | 2 | name |
| 11586474 | CV293397 | single nucleotide variant | NM_031955.6(SPATA16):c.828G>A (p.Glu276=) | Globozoospermia [RCV000288035] | uncertain significance | 3 | 173019506 | 173019506 | Human | 2 | name |
| 11593335 | CV293398 | single nucleotide variant | NM_031955.6(SPATA16):c.720G>A (p.Arg240=) | Globozoospermia [RCV000347773]|not provided [RCV004716048] | benign|likely benign | 3 | 173048987 | 173048987 | Human | 2 | name |
| 11657216 | CV293400 | single nucleotide variant | NM_031955.6(SPATA16):c.546T>C (p.Asp182=) | Globozoospermia [RCV000339414] | uncertain significance | 3 | 173117186 | 173117186 | Human | 2 | name |
| 11584725 | CV293410 | single nucleotide variant | NM_031955.6(SPATA16):c.91A>T (p.Met31Leu) | Globozoospermia [RCV000275796]|not specified [RCV004021899] | uncertain significance | 3 | 173117641 | 173117641 | Human | 2 | name |
| 11597331 | CV293864 | single nucleotide variant | NM_031955.6(SPATA16):c.675C>T (p.Ser225=) | Globozoospermia [RCV000392766]|not provided [RCV001691982] | benign|likely benign | 3 | 173049032 | 173049032 | Human | 2 | name |
| 405788663 | CV3330063 | single nucleotide variant | NM_181727.2(SPATA12):c.89T>A (p.Val30Asp) | not specified [RCV004460090] | uncertain significance | 3 | 57073783 | 57073783 | Human | | name |
| 405788831 | CV3330102 | single nucleotide variant | NM_138796.4(SPATA17):c.62G>C (p.Arg21Thr) | not specified [RCV004460129] | uncertain significance | 1 | 217631440 | 217631440 | Human | | name |
| 405788907 | CV3330122 | single nucleotide variant | NM_174927.3(SPATA19):c.80A>T (p.Asp27Val) | not specified [RCV004460149] | uncertain significance | 11 | 133845189 | 133845189 | Human | | name |
| 407510605 | CV3481437 | single nucleotide variant | NM_145263.4(SPATA18):c.88A>G (p.Thr30Ala) | not specified [RCV004672792] | uncertain significance | 4 | 52060419 | 52060419 | Human | | name |
| 597757499 | CV3600837 | single nucleotide variant | NM_031955.6(SPATA16):c.37G>A (p.Val13Met) | not specified [RCV004868641] | uncertain significance | 3 | 173117695 | 173117695 | Human | | name |
| 598248959 | CV3922680 | single nucleotide variant | NM_031955.6(SPATA16):c.46A>G (p.Ile16Val) | not specified [RCV005277517] | likely benign | 3 | 173117686 | 173117686 | Human | | name |
| 598249051 | CV3922691 | single nucleotide variant | NM_145263.4(SPATA18):c.95C>T (p.Thr32Met) | not specified [RCV005277528] | uncertain significance | 4 | 52060426 | 52060426 | Human | | name |
| 598249065 | CV3922694 | single nucleotide variant | NM_145263.4(SPATA18):c.47C>A (p.Thr16Lys) | not specified [RCV005277530] | uncertain significance | 4 | 52051751 | 52051751 | Human | | name |
| 15189680 | CV697935 | single nucleotide variant | NM_031955.6(SPATA16):c.53A>G (p.His18Arg) | Globozoospermia [RCV001149782]|not provided [RCV000954251] | benign|uncertain significance | 3 | 173117679 | 173117679 | Human | 2 | name |
| 8630694 | CV85849 | single nucleotide variant | NM_031955.5(SPATA16):c.537C>T (p.Ala179=) | Malignant melanoma [RCV000065932] | not provided | 3 | 173117195 | 173117195 | Human | | name |
| 28870426 | CV888422 | single nucleotide variant | NM_031955.6(SPATA16):c.996G>A (p.Ala332=) | Globozoospermia [RCV001145364] | uncertain significance | 3 | 172956762 | 172956762 | Human | 2 | name |
| 28870430 | CV888423 | single nucleotide variant | NM_031955.6(SPATA16):c.750T>C (p.His250=) | Globozoospermia [RCV001145365] | uncertain significance | 3 | 173048957 | 173048957 | Human | 2 | name |
| 156142716 | CV2296122 | single nucleotide variant | NM_031955.6(SPATA16):c.227A>T (p.Asp76Val) | not specified [RCV004154055] | uncertain significance | 3 | 173117505 | 173117505 | Human | | name |
| 155908161 | CV2302367 | single nucleotide variant | NM_138796.4(SPATA17):c.274A>G (p.Asn92Asp) | not specified [RCV004161119] | uncertain significance | 1 | 217669066 | 217669066 | Human | | name |
| 155963934 | CV2308328 | single nucleotide variant | NM_138796.4(SPATA17):c.156C>G (p.Ile52Met) | not specified [RCV004164814] | uncertain significance | 1 | 217648969 | 217648969 | Human | | name |
| 156210554 | CV2309758 | single nucleotide variant | NM_174927.3(SPATA19):c.120T>A (p.His40Gln) | not specified [RCV004160882] | likely benign | 11 | 133845149 | 133845149 | Human | | name |
| 155971380 | CV2335680 | single nucleotide variant | NM_145263.4(SPATA18):c.200G>A (p.Arg67His) | not specified [RCV004193881] | likely benign | 4 | 52060788 | 52060788 | Human | | name |
| 156276677 | CV2351954 | single nucleotide variant | NM_031955.6(SPATA16):c.280A>G (p.Arg94Gly) | not specified [RCV004198086] | likely benign | 3 | 173117452 | 173117452 | Human | | name |
| 156156963 | CV2359898 | single nucleotide variant | NM_138796.4(SPATA17):c.256A>C (p.Met86Leu) | not specified [RCV004212748] | uncertain significance | 1 | 217669048 | 217669048 | Human | | name |
| 156129157 | CV2364579 | single nucleotide variant | NM_145263.4(SPATA18):c.173T>C (p.Leu58Pro) | not specified [RCV004217432] | uncertain significance | 4 | 52060504 | 52060504 | Human | | name |
| 156225656 | CV2390651 | single nucleotide variant | NM_001166271.3(SPATA13):c.8A>G (p.Gln3Arg) | not specified [RCV004239170] | uncertain significance | 13 | 24222937 | 24222937 | Human | | name |
| 401737124 | CV2689571 | single nucleotide variant | NM_174927.3(SPATA19):c.237T>G (p.His79Gln) | not specified [RCV004308396] | uncertain significance | 11 | 133844539 | 133844539 | Human | | name |
| 11588182 | CV290319 | single nucleotide variant | NM_031955.6(SPATA16):c.232G>A (p.Glu78Lys) | Globozoospermia [RCV000300819]|not provided [RCV001683373] | benign|likely benign | 3 | 173117500 | 173117500 | Human | 2 | name |
| 11594127 | CV290323 | single nucleotide variant | NM_031955.6(SPATA16):c.149A>G (p.Asn50Ser) | Globozoospermia [RCV000355688]|not provided [RCV000946775] | benign|likely benign|uncertain significance | 3 | 173117583 | 173117583 | Human | 2 | name |
| 11584515 | CV290325 | single nucleotide variant | NM_031955.6(SPATA16):c.130T>A (p.Ser44Thr) | Globozoospermia [RCV000274552]|not provided [RCV004716049] | benign|likely benign | 3 | 173117602 | 173117602 | Human | 2 | name |
| 11595454 | CV290326 | single nucleotide variant | NM_031955.6(SPATA16):c.104C>T (p.Ala35Val) | Globozoospermia [RCV000370363]|not provided [RCV004694726] | uncertain significance | 3 | 173117628 | 173117628 | Human | 2 | name |
| 11593887 | CV293394 | single nucleotide variant | NM_031955.6(SPATA16):c.1365G>T (p.Val455=) | Globozoospermia [RCV000353136] | likely benign|uncertain significance | 3 | 172916455 | 172916455 | Human | 2 | name |
| 11582723 | CV293860 | single nucleotide variant | NM_031955.6(SPATA16):c.1513C>T (p.Leu505=) | Globozoospermia [RCV000261704] | uncertain significance | 3 | 172913735 | 172913735 | Human | 2 | name |
| 405788639 | CV3330058 | single nucleotide variant | NM_181727.2(SPATA12):c.187G>A (p.Ala63Thr) | not specified [RCV004460085] | uncertain significance | 3 | 57073881 | 57073881 | Human | | name |
| 405788805 | CV3330095 | single nucleotide variant | NM_031955.6(SPATA16):c.129G>A (p.Met43Ile) | not specified [RCV004460122] | uncertain significance | 3 | 173117603 | 173117603 | Human | | name |
| 405788881 | CV3330115 | single nucleotide variant | NM_174927.3(SPATA19):c.214T>C (p.Ser72Pro) | not specified [RCV004460142] | uncertain significance | 11 | 133844562 | 133844562 | Human | | name |
| 405788888 | CV3330117 | single nucleotide variant | NM_174927.3(SPATA19):c.265G>A (p.Val89Met) | not specified [RCV004460144] | uncertain significance | 11 | 133844511 | 133844511 | Human | | name |
| 407510602 | CV3481434 | single nucleotide variant | NM_031955.6(SPATA16):c.253A>C (p.Lys85Gln) | not specified [RCV004672791] | uncertain significance | 3 | 173117479 | 173117479 | Human | | name |
| 407510616 | CV3481441 | single nucleotide variant | NM_174927.3(SPATA19):c.227C>T (p.Pro76Leu) | not specified [RCV004672796] | uncertain significance | 11 | 133844549 | 133844549 | Human | | name |
| 407510620 | CV3481443 | single nucleotide variant | NM_174927.3(SPATA19):c.212T>C (p.Met71Thr) | not specified [RCV004672797] | uncertain significance | 11 | 133844564 | 133844564 | Human | | name |
| 597688644 | CV3600804 | single nucleotide variant | NM_181727.2(SPATA12):c.144C>A (p.His48Gln) | not specified [RCV004868616] | uncertain significance | 3 | 57073838 | 57073838 | Human | | name |
| 597757494 | CV3600835 | single nucleotide variant | NM_031955.6(SPATA16):c.152G>C (p.Cys51Ser) | not specified [RCV004868640] | uncertain significance | 3 | 173117580 | 173117580 | Human | | name |
| 597742119 | CV3600841 | single nucleotide variant | NM_138796.4(SPATA17):c.146G>A (p.Arg49Gln) | not specified [RCV004865013] | uncertain significance | 1 | 217648959 | 217648959 | Human | | name |
| 597757514 | CV3600842 | single nucleotide variant | NM_138796.4(SPATA17):c.145C>T (p.Arg49Trp) | not specified [RCV004868644] | uncertain significance | 1 | 217648958 | 217648958 | Human | | name |
| 597742133 | CV3600848 | single nucleotide variant | NM_145263.4(SPATA18):c.211G>A (p.Val71Met) | not specified [RCV004865016] | uncertain significance | 4 | 52060799 | 52060799 | Human | | name |
| 598238764 | CV3922657 | single nucleotide variant | NM_181727.2(SPATA12):c.175G>A (p.Val59Ile) | not specified [RCV005275890] | uncertain significance | 3 | 57073869 | 57073869 | Human | | name |
| 598248940 | CV3922678 | single nucleotide variant | NM_031955.6(SPATA16):c.124G>A (p.Glu42Lys) | not specified [RCV005277515] | uncertain significance | 3 | 173117608 | 173117608 | Human | | name |
| 598248978 | CV3922682 | single nucleotide variant | NM_031955.6(SPATA16):c.128T>C (p.Met43Thr) | not specified [RCV005277519] | uncertain significance | 3 | 173117604 | 173117604 | Human | | name |
| 598249044 | CV3922690 | single nucleotide variant | NM_138796.4(SPATA17):c.286G>C (p.Val96Leu) | not specified [RCV005277527] | uncertain significance | 1 | 217669078 | 217669078 | Human | | name |
| 598249058 | CV3922693 | single nucleotide variant | NM_145263.4(SPATA18):c.244C>G (p.Leu82Val) | not specified [RCV005277529] | uncertain significance | 4 | 52060832 | 52060832 | Human | | name |
| 598249080 | CV3922696 | single nucleotide variant | NM_145263.4(SPATA18):c.209G>A (p.Gly70Asp) | not specified [RCV005277532] | uncertain significance | 4 | 52060797 | 52060797 | Human | | name |
| 598249102 | CV3922699 | single nucleotide variant | NM_174927.3(SPATA19):c.232A>C (p.Thr78Pro) | not specified [RCV005277535] | uncertain significance | 11 | 133844544 | 133844544 | Human | | name |
| 598261598 | CV3922701 | single nucleotide variant | NM_174927.3(SPATA19):c.271A>G (p.Lys91Glu) | not specified [RCV005280014] | uncertain significance | 11 | 133844334 | 133844334 | Human | | name |
| 8625809 | CV80933 | single nucleotide variant | NM_145263.3(SPATA18):c.1209C>T (p.Pro403=) | Malignant melanoma [RCV000061010] | not provided | 4 | 52079773 | 52079773 | Human | | name |
| 8630923 | CV86079 | single nucleotide variant | NM_181727.1(SPATA12):c.184G>A (p.Gly62Arg) | Malignant melanoma [RCV000066163] | not provided | 3 | 57073878 | 57073878 | Human | | name |
| 28877065 | CV888428 | single nucleotide variant | NM_031955.6(SPATA16):c.251G>A (p.Arg84Gln) | Globozoospermia [RCV001148233]|not specified [RCV004032758] | uncertain significance | 3 | 173117481 | 173117481 | Human | 2 | name |
| 28877068 | CV888429 | single nucleotide variant | NM_031955.6(SPATA16):c.205A>G (p.Ile69Val) | Globozoospermia [RCV001148234]|not specified [RCV004032759] | uncertain significance | 3 | 173117527 | 173117527 | Human | 2 | name |
| 8595391 | CV16450 | single nucleotide variant | NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln) | Globozoospermia [RCV000001476]|not provided [RCV001476874] | pathogenic|likely benign|uncertain significance | 3 | 173019486 | 173019486 | Human | 2 | name |
| 9687126 | CV171379 | single nucleotide variant | NM_145263.4(SPATA18):c.991G>A (p.Val331Ile) | Prostate cancer [RCV000149345] | uncertain significance | 4 | 52077011 | 52077011 | Human | 2 | name |
| 156152355 | CV2209359 | single nucleotide variant | NM_145263.4(SPATA18):c.314C>T (p.Thr105Met) | not specified [RCV004093534] | uncertain significance | 4 | 52062224 | 52062224 | Human | | name |
| 155967022 | CV2216782 | single nucleotide variant | NM_174927.3(SPATA19):c.337C>G (p.Arg113Gly) | not specified [RCV004083223] | uncertain significance | 11 | 133844268 | 133844268 | Human | | name |
| 156385339 | CV2227888 | single nucleotide variant | NM_145263.4(SPATA18):c.467C>T (p.Ser156Leu) | not specified [RCV004096153] | uncertain significance | 4 | 52069865 | 52069865 | Human | | name |
| 156029496 | CV2238320 | single nucleotide variant | NM_145263.4(SPATA18):c.646C>G (p.Gln216Glu) | not specified [RCV004113396] | uncertain significance | 4 | 52072044 | 52072044 | Human | | name |
| 156025523 | CV2242247 | single nucleotide variant | NM_145263.4(SPATA18):c.868C>A (p.Arg290Ser) | not specified [RCV004111271] | uncertain significance | 4 | 52076888 | 52076888 | Human | | name |
| 155986113 | CV2247940 | single nucleotide variant | NM_031955.6(SPATA16):c.454T>G (p.Cys152Gly) | not specified [RCV004121375] | uncertain significance | 3 | 173117278 | 173117278 | Human | | name |
| 156078479 | CV2248490 | single nucleotide variant | NM_138796.4(SPATA17):c.544T>C (p.Phe182Leu) | not specified [RCV004119620] | uncertain significance | 1 | 217774358 | 217774358 | Human | | name |
| 155966707 | CV2261939 | single nucleotide variant | NM_001166271.3(SPATA13):c.20G>A (p.Arg7Gln) | not specified [RCV004127982] | uncertain significance | 13 | 24222949 | 24222949 | Human | | name |
| 155947789 | CV2262792 | single nucleotide variant | NM_181727.2(SPATA12):c.440T>C (p.Leu147Pro) | not specified [RCV004130960] | uncertain significance | 3 | 57074134 | 57074134 | Human | | name |
| 156239553 | CV2269187 | single nucleotide variant | NM_138796.4(SPATA17):c.445G>A (p.Ala149Thr) | not specified [RCV004130347] | uncertain significance | 1 | 217742024 | 217742024 | Human | | name |
| 156271465 | CV2286385 | single nucleotide variant | NM_138796.4(SPATA17):c.503T>A (p.Leu168His) | not specified [RCV004139911] | uncertain significance | 1 | 217742082 | 217742082 | Human | | name |
| 156176808 | CV2299937 | single nucleotide variant | NM_138796.4(SPATA17):c.585G>T (p.Lys195Asn) | not specified [RCV004149070] | uncertain significance | 1 | 217774399 | 217774399 | Human | | name |
| 156050336 | CV2319369 | single nucleotide variant | NM_174927.3(SPATA19):c.488C>T (p.Ser163Phe) | not specified [RCV004180189] | uncertain significance | 11 | 133842055 | 133842055 | Human | | name |
| 155979325 | CV2339052 | single nucleotide variant | NM_145263.4(SPATA18):c.778C>T (p.Pro260Ser) | not specified [RCV004187099] | uncertain significance | 4 | 52076798 | 52076798 | Human | | name |
| 156067181 | CV2356628 | single nucleotide variant | NM_138796.4(SPATA17):c.998G>C (p.Cys333Ser) | not specified [RCV004201991] | uncertain significance | 1 | 217801843 | 217801843 | Human | | name |
| 156248597 | CV2357152 | single nucleotide variant | NM_145263.4(SPATA18):c.394C>T (p.Arg132Trp) | not specified [RCV004206942] | uncertain significance | 4 | 52062304 | 52062304 | Human | | name |
| 155911292 | CV2362391 | single nucleotide variant | NM_181727.2(SPATA12):c.412G>A (p.Glu138Lys) | not specified [RCV004213019] | uncertain significance | 3 | 57074106 | 57074106 | Human | | name |
| 155994227 | CV2377452 | single nucleotide variant | NM_138796.4(SPATA17):c.898A>G (p.Lys300Glu) | not specified [RCV004225624] | uncertain significance | 1 | 217801743 | 217801743 | Human | | name |
| 156090695 | CV2384525 | single nucleotide variant | NM_138796.4(SPATA17):c.370G>A (p.Val124Ile) | not specified [RCV004232324] | uncertain significance | 1 | 217683336 | 217683336 | Human | | name |
| 329349959 | CV2438563 | single nucleotide variant | NM_181727.2(SPATA12):c.316T>A (p.Ser106Thr) | not specified [RCV004261743] | uncertain significance | 3 | 57074010 | 57074010 | Human | | name |
| 329354382 | CV2448078 | single nucleotide variant | NM_145263.4(SPATA18):c.550C>G (p.Arg184Gly) | not specified [RCV004263304] | uncertain significance | 4 | 52071948 | 52071948 | Human | | name |
| 329395962 | CV2451817 | single nucleotide variant | NM_145263.4(SPATA18):c.815G>A (p.Ser272Asn) | not specified [RCV004276499] | uncertain significance | 4 | 52076835 | 52076835 | Human | | name |
| 329350076 | CV2453567 | single nucleotide variant | NM_181727.2(SPATA12):c.473C>T (p.Thr158Ile) | not specified [RCV004269242] | uncertain significance | 3 | 57074167 | 57074167 | Human | | name |
| 401727803 | CV2678466 | single nucleotide variant | NM_174927.3(SPATA19):c.484C>A (p.Pro162Thr) | not specified [RCV004292484] | uncertain significance | 11 | 133842059 | 133842059 | Human | | name |
| 401766761 | CV2680138 | single nucleotide variant | NM_174927.3(SPATA19):c.368G>A (p.Arg123His) | not specified [RCV004286624] | uncertain significance | 11 | 133842554 | 133842554 | Human | | name |
| 401757961 | CV2685649 | single nucleotide variant | NM_001166271.3(SPATA13):c.16G>A (p.Val6Met) | not specified [RCV004294656] | uncertain significance | 13 | 24222945 | 24222945 | Human | | name |
| 401743675 | CV2688004 | single nucleotide variant | NM_174927.3(SPATA19):c.305A>T (p.Asn102Ile) | not specified [RCV004305079] | uncertain significance | 11 | 133844300 | 133844300 | Human | | name |
| 401737223 | CV2718037 | single nucleotide variant | NM_145263.4(SPATA18):c.395G>A (p.Arg132Gln) | not specified [RCV004315763] | uncertain significance | 4 | 52062305 | 52062305 | Human | | name |
| 401763109 | CV2720198 | single nucleotide variant | NM_031955.6(SPATA16):c.400G>A (p.Gly134Ser) | not specified [RCV004325537] | uncertain significance | 3 | 173117332 | 173117332 | Human | | name |
| 401855831 | CV2757518 | single nucleotide variant | NM_138796.4(SPATA17):c.598A>G (p.Thr200Ala) | not specified [RCV004340897] | uncertain significance | 1 | 217774412 | 217774412 | Human | | name |
| 401881981 | CV2784026 | single nucleotide variant | NM_138796.4(SPATA17):c.706A>G (p.Asn236Asp) | not specified [RCV004362432] | likely benign | 1 | 217774520 | 217774520 | Human | | name |
| 401936776 | CV2816048 | single nucleotide variant | NM_138796.4(SPATA17):c.863A>T (p.Asn288Ile) | not provided [RCV003414774] | likely benign | 1 | 217782313 | 217782313 | Human | | name |
| 401936773 | CV2816049 | single nucleotide variant | NM_138796.4(SPATA17):c.998G>A (p.Cys333Tyr) | not provided [RCV003414775] | likely benign | 1 | 217801843 | 217801843 | Human | | name |
| 11598208 | CV290316 | single nucleotide variant | NM_031955.6(SPATA16):c.440G>A (p.Gly147Glu) | Globozoospermia [RCV000402731]|not provided [RCV001691983] | benign|likely benign | 3 | 173117292 | 173117292 | Human | 2 | name |
| 11594035 | CV290318 | single nucleotide variant | NM_031955.6(SPATA16):c.397A>G (p.Met133Val) | Globozoospermia [RCV000354596]|not provided [RCV001691984] | benign | 3 | 173117335 | 173117335 | Human | 2 | name |
| 11591802 | CV293395 | single nucleotide variant | NM_031955.6(SPATA16):c.873G>A (p.Met291Ile) | Globozoospermia [RCV000332674] | uncertain significance | 3 | 172977028 | 172977028 | Human | 2 | name |
| 11588615 | CV293409 | single nucleotide variant | NM_031955.6(SPATA16):c.430A>C (p.Met144Leu) | Globozoospermia [RCV000304191] | uncertain significance | 3 | 173117302 | 173117302 | Human | 2 | name |
| 11587615 | CV293862 | single nucleotide variant | NM_031955.6(SPATA16):c.995C>T (p.Ala332Val) | Globozoospermia [RCV000296368] | uncertain significance | 3 | 172956763 | 172956763 | Human | 2 | name |
| 405788653 | CV3330061 | single nucleotide variant | NM_181727.2(SPATA12):c.437G>A (p.Arg146Lys) | not specified [RCV004460088] | uncertain significance | 3 | 57074131 | 57074131 | Human | | name |
| 405788658 | CV3330062 | single nucleotide variant | NM_181727.2(SPATA12):c.490A>G (p.Asn164Asp) | not specified [RCV004460089] | likely benign | 3 | 57074184 | 57074184 | Human | | name |
| 405788819 | CV3330099 | single nucleotide variant | NM_031955.6(SPATA16):c.980T>G (p.Met327Arg) | not specified [RCV004460126] | uncertain significance | 3 | 172956778 | 172956778 | Human | | name |
| 405788823 | CV3330100 | single nucleotide variant | NM_138796.4(SPATA17):c.302G>A (p.Arg101Gln) | not specified [RCV004460127] | uncertain significance | 1 | 217683268 | 217683268 | Human | | name |
| 405788827 | CV3330101 | single nucleotide variant | NM_138796.4(SPATA17):c.424A>G (p.Lys142Glu) | not specified [RCV004460128] | uncertain significance | 1 | 217742003 | 217742003 | Human | | name |
| 405788835 | CV3330103 | single nucleotide variant | NM_138796.4(SPATA17):c.659G>T (p.Cys220Phe) | not specified [RCV004460130] | uncertain significance | 1 | 217774473 | 217774473 | Human | | name |
| 405788838 | CV3330104 | single nucleotide variant | NM_138796.4(SPATA17):c.740T>C (p.Ile247Thr) | not specified [RCV004460131] | uncertain significance | 1 | 217782190 | 217782190 | Human | | name |
| 405788842 | CV3330105 | single nucleotide variant | NM_138796.4(SPATA17):c.924G>T (p.Met308Ile) | not specified [RCV004460132] | uncertain significance | 1 | 217801769 | 217801769 | Human | | name |
| 405788846 | CV3330106 | single nucleotide variant | NM_138796.4(SPATA17):c.971G>A (p.Arg324Gln) | not specified [RCV004460133] | uncertain significance | 1 | 217801816 | 217801816 | Human | | name |
| 405788869 | CV3330112 | single nucleotide variant | NM_145263.4(SPATA18):c.721G>T (p.Ala241Ser) | not specified [RCV004460139] | uncertain significance | 4 | 52072119 | 52072119 | Human | | name |
| 405788873 | CV3330113 | single nucleotide variant | NM_145263.4(SPATA18):c.865A>G (p.Asn289Asp) | not specified [RCV004460140] | uncertain significance | 4 | 52076885 | 52076885 | Human | | name |
| 405788877 | CV3330114 | single nucleotide variant | NM_145263.4(SPATA18):c.968G>A (p.Arg323His) | not specified [RCV004460141] | uncertain significance | 4 | 52076988 | 52076988 | Human | | name |
| 405788892 | CV3330118 | single nucleotide variant | NM_174927.3(SPATA19):c.352A>G (p.Arg118Gly) | not specified [RCV004460145] | uncertain significance | 11 | 133844253 | 133844253 | Human | | name |
| 405788896 | CV3330119 | single nucleotide variant | NM_174927.3(SPATA19):c.407T>C (p.Met136Thr) | not specified [RCV004460146] | uncertain significance | 11 | 133842515 | 133842515 | Human | | name |
| 405788899 | CV3330120 | single nucleotide variant | NM_174927.3(SPATA19):c.446G>A (p.Arg149His) | not specified [RCV004460147] | likely benign | 11 | 133842097 | 133842097 | Human | | name |
| 405788903 | CV3330121 | single nucleotide variant | NM_174927.3(SPATA19):c.482G>A (p.Arg161Lys) | not specified [RCV004460148] | uncertain significance | 11 | 133842061 | 133842061 | Human | | name |
| 407525483 | CV3481436 | single nucleotide variant | NM_031955.6(SPATA16):c.482T>C (p.Leu161Ser) | not specified [RCV004679279] | uncertain significance | 3 | 173117250 | 173117250 | Human | | name |
| 407510610 | CV3481439 | single nucleotide variant | NM_145263.4(SPATA18):c.890C>T (p.Ala297Val) | not specified [RCV004672794] | uncertain significance | 4 | 52076910 | 52076910 | Human | | name |
| 407525486 | CV3481442 | single nucleotide variant | NM_174927.3(SPATA19):c.452C>T (p.Thr151Ile) | not specified [RCV004679280] | uncertain significance | 11 | 133842091 | 133842091 | Human | | name |
| 596925715 | CV3542127 | single nucleotide variant | NM_031955.6(SPATA16):c.787C>T (p.Arg263Trp) | Globozoospermia [RCV004795843] | uncertain significance | 3 | 173019547 | 173019547 | Human | 2 | name |
| 597688634 | CV3600803 | single nucleotide variant | NM_181727.2(SPATA12):c.547A>C (p.Asn183His) | not specified [RCV004868615] | uncertain significance | 3 | 57074241 | 57074241 | Human | | name |
| 597757475 | CV3600831 | single nucleotide variant | NM_031955.6(SPATA16):c.488T>C (p.Val163Ala) | not specified [RCV004868636] | uncertain significance | 3 | 173117244 | 173117244 | Human | | name |
| 597757480 | CV3600832 | single nucleotide variant | NM_031955.6(SPATA16):c.614T>A (p.Leu205His) | not specified [RCV004868637] | uncertain significance | 3 | 173049093 | 173049093 | Human | | name |
| 597757485 | CV3600833 | single nucleotide variant | NM_031955.6(SPATA16):c.941T>C (p.Ile314Thr) | not specified [RCV004868638] | uncertain significance | 3 | 172956817 | 172956817 | Human | | name |
| 597757490 | CV3600834 | single nucleotide variant | NM_031955.6(SPATA16):c.560A>G (p.Tyr187Cys) | not specified [RCV004868639] | uncertain significance | 3 | 173117172 | 173117172 | Human | | name |
| 597757509 | CV3600839 | single nucleotide variant | NM_138796.4(SPATA17):c.788G>A (p.Arg263Gln) | not specified [RCV004868643] | uncertain significance | 1 | 217782238 | 217782238 | Human | | name |
| 597742114 | CV3600840 | single nucleotide variant | NM_138796.4(SPATA17):c.323G>A (p.Arg108Gln) | not specified [RCV004865012] | uncertain significance | 1 | 217683289 | 217683289 | Human | | name |
| 597757519 | CV3600843 | single nucleotide variant | NM_145263.4(SPATA18):c.769A>T (p.Ser257Cys) | not specified [RCV004868645] | uncertain significance | 4 | 52076789 | 52076789 | Human | | name |
| 597757524 | CV3600845 | single nucleotide variant | NM_145263.4(SPATA18):c.541G>A (p.Glu181Lys) | not specified [RCV004868646] | uncertain significance | 4 | 52071939 | 52071939 | Human | | name |
| 597757529 | CV3600846 | single nucleotide variant | NM_145263.4(SPATA18):c.420C>G (p.Asp140Glu) | not specified [RCV004868647] | uncertain significance | 4 | 52062330 | 52062330 | Human | | name |
| 597742142 | CV3600850 | single nucleotide variant | NM_145263.4(SPATA18):c.793C>T (p.Arg265Cys) | not specified [RCV004865018] | uncertain significance | 4 | 52076813 | 52076813 | Human | | name |
| 597757539 | CV3600852 | single nucleotide variant | NM_174927.3(SPATA19):c.428T>C (p.Val143Ala) | not specified [RCV004868649] | uncertain significance | 11 | 133842494 | 133842494 | Human | | name |
| 597757544 | CV3600853 | single nucleotide variant | NM_174927.3(SPATA19):c.482G>C (p.Arg161Thr) | not specified [RCV004868650] | uncertain significance | 11 | 133842061 | 133842061 | Human | | name |
| 597742146 | CV3600854 | single nucleotide variant | NM_174927.3(SPATA19):c.301G>A (p.Ala101Thr) | not specified [RCV004865019] | uncertain significance | 11 | 133844304 | 133844304 | Human | | name |
| 598248950 | CV3922679 | single nucleotide variant | NM_031955.6(SPATA16):c.668T>C (p.Ile223Thr) | not specified [RCV005277516] | uncertain significance | 3 | 173049039 | 173049039 | Human | | name |
| 598248969 | CV3922681 | single nucleotide variant | NM_031955.6(SPATA16):c.436A>G (p.Thr146Ala) | not specified [RCV005277518] | uncertain significance | 3 | 173117296 | 173117296 | Human | | name |
| 598248994 | CV3922684 | single nucleotide variant | NM_138796.4(SPATA17):c.760C>T (p.Arg254Cys) | not specified [RCV005277521] | uncertain significance | 1 | 217782210 | 217782210 | Human | | name |
| 598249002 | CV3922685 | single nucleotide variant | NM_138796.4(SPATA17):c.841G>A (p.Glu281Lys) | not specified [RCV005277522] | uncertain significance | 1 | 217782291 | 217782291 | Human | | name |
| 598249010 | CV3922686 | single nucleotide variant | NM_138796.4(SPATA17):c.725G>A (p.Gly242Glu) | not specified [RCV005277523] | uncertain significance | 1 | 217782175 | 217782175 | Human | | name |
| 598249018 | CV3922687 | single nucleotide variant | NM_138796.4(SPATA17):c.864T>A (p.Asn288Lys) | not specified [RCV005277524] | uncertain significance | 1 | 217782314 | 217782314 | Human | | name |
| 598249026 | CV3922688 | single nucleotide variant | NM_138796.4(SPATA17):c.974G>C (p.Ser325Thr) | not specified [RCV005277525] | uncertain significance | 1 | 217801819 | 217801819 | Human | | name |
| 598249035 | CV3922689 | single nucleotide variant | NM_138796.4(SPATA17):c.807T>A (p.Asp269Glu) | not specified [RCV005277526] | uncertain significance | 1 | 217782257 | 217782257 | Human | | name |
| 598238776 | CV3922692 | single nucleotide variant | NM_145263.4(SPATA18):c.914G>A (p.Arg305Gln) | not specified [RCV005275892] | uncertain significance | 4 | 52076934 | 52076934 | Human | | name |
| 598261593 | CV3922700 | single nucleotide variant | NM_174927.3(SPATA19):c.344A>C (p.Gln115Pro) | not specified [RCV005280013] | uncertain significance | 11 | 133844261 | 133844261 | Human | | name |
| 15177132 | CV708688 | single nucleotide variant | NM_031955.6(SPATA16):c.736C>T (p.Leu246Phe) | Globozoospermia [RCV001145366]|not provided [RCV000973351] | likely benign|uncertain significance | 3 | 173048971 | 173048971 | Human | 2 | name |
| 15165336 | CV709386 | single nucleotide variant | NM_145263.4(SPATA18):c.800G>A (p.Arg267His) | not provided [RCV000970926] | likely benign | 4 | 52076820 | 52076820 | Human | | name |
| 15184537 | CV720991 | single nucleotide variant | NM_145263.4(SPATA18):c.701G>A (p.Arg234Gln) | not provided [RCV000886472] | likely benign | 4 | 52072099 | 52072099 | Human | | name |
| 15163548 | CV720992 | single nucleotide variant | NM_145263.4(SPATA18):c.875A>G (p.Lys292Arg) | not provided [RCV000881994] | benign | 4 | 52076895 | 52076895 | Human | | name |
| 8625570 | CV80694 | single nucleotide variant | NM_031955.5(SPATA16):c.811G>A (p.Val271Met) | Malignant melanoma [RCV000060771] | not provided | 3 | 173019523 | 173019523 | Human | | name |
| 8625808 | CV80932 | single nucleotide variant | NM_145263.3(SPATA18):c.779C>T (p.Pro260Leu) | Malignant melanoma [RCV000061009] | not provided | 4 | 52076799 | 52076799 | Human | | name |
| 28870434 | CV888424 | single nucleotide variant | NM_031955.6(SPATA16):c.719G>A (p.Arg240Gln) | Globozoospermia [RCV001145367] | uncertain significance | 3 | 173048988 | 173048988 | Human | 2 | name |
| 28874664 | CV888425 | single nucleotide variant | NM_031955.6(SPATA16):c.490C>T (p.His164Tyr) | Globozoospermia [RCV001147309] | uncertain significance | 3 | 173117242 | 173117242 | Human | 2 | name |
| 28874666 | CV888426 | single nucleotide variant | NM_031955.6(SPATA16):c.430A>G (p.Met144Val) | Globozoospermia [RCV001147310] | uncertain significance | 3 | 173117302 | 173117302 | Human | 2 | name |
| 28877061 | CV888427 | single nucleotide variant | NM_031955.6(SPATA16):c.406C>T (p.Arg136Cys) | Globozoospermia [RCV001148232] | uncertain significance | 3 | 173117326 | 173117326 | Human | 2 | name |
| 156267664 | CV2198839 | single nucleotide variant | NM_031955.6(SPATA16):c.1457C>T (p.Ala486Val) | not specified [RCV004077878] | uncertain significance | 3 | 172916363 | 172916363 | Human | | name |
| 156179512 | CV2201663 | single nucleotide variant | NM_031955.6(SPATA16):c.1295G>A (p.Arg432Gln) | not specified [RCV004082119] | uncertain significance | 3 | 172924251 | 172924251 | Human | | name |
| 155971202 | CV2237374 | single nucleotide variant | NM_031955.6(SPATA16):c.1010C>T (p.Ala337Val) | not specified [RCV004104563] | uncertain significance | 3 | 172956748 | 172956748 | Human | | name |
| 155985108 | CV2241193 | single nucleotide variant | NM_001166271.3(SPATA13):c.86C>T (p.Ala29Val) | not specified [RCV004104214] | uncertain significance | 13 | 24223015 | 24223015 | Human | | name |
| 156277593 | CV2252017 | single nucleotide variant | NM_145263.4(SPATA18):c.1571G>A (p.Arg524Gln) | not specified [RCV004122056] | uncertain significance | 4 | 52094534 | 52094534 | Human | | name |
| 156369457 | CV2263339 | single nucleotide variant | NM_145263.4(SPATA18):c.1535G>A (p.Cys512Tyr) | not specified [RCV004133611] | uncertain significance | 4 | 52084971 | 52084971 | Human | | name |
| 156030373 | CV2278713 | single nucleotide variant | NM_031955.6(SPATA16):c.1451A>C (p.Glu484Ala) | not specified [RCV004134907] | uncertain significance | 3 | 172916369 | 172916369 | Human | | name |
| 156254892 | CV2280930 | single nucleotide variant | NM_001166271.3(SPATA13):c.44A>G (p.Asn15Ser) | not specified [RCV004145172] | uncertain significance | 13 | 24222973 | 24222973 | Human | | name |
| 155906112 | CV2283356 | single nucleotide variant | NM_031955.6(SPATA16):c.1687C>A (p.Leu563Ile) | not specified [RCV004146010] | uncertain significance | 3 | 172889593 | 172889593 | Human | | name |
| 156175552 | CV2317243 | single nucleotide variant | NM_001166271.3(SPATA13):c.70G>A (p.Gly24Arg) | not specified [RCV004178740] | uncertain significance | 13 | 24222999 | 24222999 | Human | | name |
| 156117009 | CV2349430 | single nucleotide variant | NM_145263.4(SPATA18):c.1352G>C (p.Cys451Ser) | not specified [RCV004199357] | uncertain significance | 4 | 52079916 | 52079916 | Human | | name |
| 156067114 | CV2356607 | single nucleotide variant | NM_145263.4(SPATA18):c.1376C>T (p.Ser459Leu) | not specified [RCV004201973] | uncertain significance | 4 | 52082407 | 52082407 | Human | | name |
| 156249423 | CV2358882 | single nucleotide variant | NM_145263.4(SPATA18):c.1541G>A (p.Arg514His) | not specified [RCV004212224] | uncertain significance | 4 | 52084977 | 52084977 | Human | | name |
| 156080934 | CV2384699 | single nucleotide variant | NM_031955.6(SPATA16):c.1076A>G (p.Tyr359Cys) | not specified [RCV004232472] | uncertain significance | 3 | 172956682 | 172956682 | Human | | name |
| 156103680 | CV2386918 | single nucleotide variant | NM_145263.4(SPATA18):c.1000A>G (p.Ile334Val) | not specified [RCV004233549] | uncertain significance | 4 | 52077020 | 52077020 | Human | | name |
| 156228104 | CV2392879 | single nucleotide variant | NM_031955.6(SPATA16):c.1600G>A (p.Glu534Lys) | not specified [RCV004247231] | uncertain significance | 3 | 172889680 | 172889680 | Human | | name |
| 329380556 | CV2444449 | single nucleotide variant | NM_031955.6(SPATA16):c.1012G>C (p.Asp338His) | not specified [RCV004263184] | uncertain significance | 3 | 172956746 | 172956746 | Human | | name |
| 329352339 | CV2452888 | single nucleotide variant | NM_031955.6(SPATA16):c.1319T>C (p.Ile440Thr) | not specified [RCV004277532] | uncertain significance | 3 | 172924227 | 172924227 | Human | | name |
| 401745389 | CV2681255 | single nucleotide variant | NM_031955.6(SPATA16):c.1613A>G (p.Tyr538Cys) | not specified [RCV004289389] | uncertain significance | 3 | 172889667 | 172889667 | Human | | name |
| 401755331 | CV2682453 | single nucleotide variant | NM_031955.6(SPATA16):c.1320T>G (p.Ile440Met) | not specified [RCV004290479] | uncertain significance | 3 | 172924226 | 172924226 | Human | | name |
| 401769901 | CV2693131 | single nucleotide variant | NM_145263.4(SPATA18):c.1024G>C (p.Ala342Pro) | not specified [RCV004308662] | uncertain significance | 4 | 52078738 | 52078738 | Human | | name |
| 401761100 | CV2706215 | single nucleotide variant | NM_145263.4(SPATA18):c.1184T>C (p.Val395Ala) | not specified [RCV004314888] | uncertain significance | 4 | 52079748 | 52079748 | Human | | name |
| 401727144 | CV2714823 | single nucleotide variant | NM_145263.4(SPATA18):c.1199A>G (p.Asn400Ser) | not specified [RCV004320382] | uncertain significance | 4 | 52079763 | 52079763 | Human | | name |
| 401764024 | CV2717200 | single nucleotide variant | NM_001166271.3(SPATA13):c.44A>T (p.Asn15Ile) | not specified [RCV004324055] | uncertain significance | 13 | 24222973 | 24222973 | Human | | name |
| 401781657 | CV2722208 | single nucleotide variant | NM_031955.6(SPATA16):c.1246G>T (p.Gly416Cys) | not specified [RCV004328773] | uncertain significance | 3 | 172924300 | 172924300 | Human | | name |
| 401856360 | CV2754638 | single nucleotide variant | NM_145263.4(SPATA18):c.1251T>G (p.Ser417Arg) | not specified [RCV004339311] | uncertain significance | 4 | 52079815 | 52079815 | Human | | name |
| 11594393 | CV289538 | single nucleotide variant | NM_031955.6(SPATA16):c.1526C>T (p.Ala509Val) | Globozoospermia [RCV000358764]|not provided [RCV004710939] | likely benign|uncertain significance | 3 | 172913722 | 172913722 | Human | 2 | name |
| 11596763 | CV289543 | single nucleotide variant | NM_031955.6(SPATA16):c.1117G>A (p.Asp373Asn) | Globozoospermia [RCV000386087] | uncertain significance | 3 | 172925457 | 172925457 | Human | 2 | name |
| 11590444 | CV290312 | single nucleotide variant | NM_031955.6(SPATA16):c.1401G>T (p.Gln467His) | Globozoospermia [RCV000319274] | uncertain significance | 3 | 172916419 | 172916419 | Human | 2 | name |
| 11644918 | CV293861 | single nucleotide variant | NM_031955.6(SPATA16):c.1324A>G (p.Ser442Gly) | Globozoospermia [RCV000262456] | uncertain significance | 3 | 172924222 | 172924222 | Human | 2 | name |
| 405788802 | CV3330094 | single nucleotide variant | NM_031955.6(SPATA16):c.1268T>C (p.Val423Ala) | not specified [RCV004460121] | uncertain significance | 3 | 172924278 | 172924278 | Human | | name |
| 405788808 | CV3330096 | single nucleotide variant | NM_031955.6(SPATA16):c.1307T>C (p.Ile436Thr) | not specified [RCV004460123] | uncertain significance | 3 | 172924239 | 172924239 | Human | | name |
| 405788812 | CV3330097 | single nucleotide variant | NM_031955.6(SPATA16):c.1491G>C (p.Gln497His) | not specified [RCV004460124] | uncertain significance | 3 | 172916329 | 172916329 | Human | | name |
| 405788815 | CV3330098 | single nucleotide variant | NM_031955.6(SPATA16):c.1691A>G (p.Gln564Arg) | not specified [RCV004460125] | uncertain significance | 3 | 172889589 | 172889589 | Human | | name |
| 405788850 | CV3330107 | single nucleotide variant | NM_145263.4(SPATA18):c.1012G>A (p.Ala338Thr) | not specified [RCV004460134] | uncertain significance | 4 | 52077032 | 52077032 | Human | | name |
| 405788853 | CV3330108 | single nucleotide variant | NM_145263.4(SPATA18):c.1103C>T (p.Ser368Leu) | not specified [RCV004460135] | uncertain significance | 4 | 52078817 | 52078817 | Human | | name |
| 405788857 | CV3330109 | single nucleotide variant | NM_145263.4(SPATA18):c.1330G>A (p.Asp444Asn) | not specified [RCV004460136] | uncertain significance | 4 | 52079894 | 52079894 | Human | | name |
| 405788861 | CV3330110 | single nucleotide variant | NM_145263.4(SPATA18):c.1493G>A (p.Arg498Gln) | not specified [RCV004460137] | uncertain significance | 4 | 52084929 | 52084929 | Human | | name |
| 407525481 | CV3481435 | single nucleotide variant | NM_031955.6(SPATA16):c.1610T>C (p.Leu537Pro) | not specified [RCV004679278] | uncertain significance | 3 | 172889670 | 172889670 | Human | | name |
| 407510608 | CV3481438 | single nucleotide variant | NM_145263.4(SPATA18):c.1337A>C (p.Glu446Ala) | not specified [RCV004672793] | uncertain significance | 4 | 52079901 | 52079901 | Human | | name |
| 407510613 | CV3481440 | single nucleotide variant | NM_145263.4(SPATA18):c.1205A>G (p.Asn402Ser) | not specified [RCV004672795] | uncertain significance | 4 | 52079769 | 52079769 | Human | | name |
| 597742111 | CV3600836 | single nucleotide variant | NM_031955.6(SPATA16):c.1442C>T (p.Ala481Val) | not specified [RCV004865011] | uncertain significance | 3 | 172916378 | 172916378 | Human | | name |
| 597757504 | CV3600838 | single nucleotide variant | NM_031955.6(SPATA16):c.1394T>A (p.Leu465His) | not specified [RCV004868642] | uncertain significance | 3 | 172916426 | 172916426 | Human | | name |
| 597742124 | CV3600844 | single nucleotide variant | NM_145263.4(SPATA18):c.1408G>A (p.Val470Met) | not specified [RCV004865014] | uncertain significance | 4 | 52082439 | 52082439 | Human | | name |
| 597742128 | CV3600847 | single nucleotide variant | NM_145263.4(SPATA18):c.1357T>C (p.Tyr453His) | not specified [RCV004865015] | uncertain significance | 4 | 52082388 | 52082388 | Human | | name |
| 597742137 | CV3600849 | single nucleotide variant | NM_145263.4(SPATA18):c.1573A>T (p.Ser525Cys) | not specified [RCV004865017] | uncertain significance | 4 | 52094536 | 52094536 | Human | | name |
| 598248931 | CV3922677 | single nucleotide variant | NM_031955.6(SPATA16):c.1589T>C (p.Val530Ala) | not specified [RCV005277514] | uncertain significance | 3 | 172889691 | 172889691 | Human | | name |
| 598248985 | CV3922683 | single nucleotide variant | NM_031955.6(SPATA16):c.1423T>A (p.Ser475Thr) | not specified [RCV005277520] | uncertain significance | 3 | 172916397 | 172916397 | Human | | name |
| 598249073 | CV3922695 | single nucleotide variant | NM_145263.4(SPATA18):c.1084A>G (p.Thr362Ala) | not specified [RCV005277531] | uncertain significance | 4 | 52078798 | 52078798 | Human | | name |
| 598249088 | CV3922697 | single nucleotide variant | NM_145263.4(SPATA18):c.1178A>G (p.Asn393Ser) | not specified [RCV005277533] | uncertain significance | 4 | 52078892 | 52078892 | Human | | name |
| 598249095 | CV3922698 | single nucleotide variant | NM_145263.4(SPATA18):c.1423A>G (p.Met475Val) | not specified [RCV005277534] | uncertain significance | 4 | 52082454 | 52082454 | Human | | name |
| 28876734 | CV888419 | single nucleotide variant | NM_031955.6(SPATA16):c.1577T>C (p.Met526Thr) | Globozoospermia [RCV001148127]|not provided [RCV004711547] | likely benign | 3 | 172913671 | 172913671 | Human | 2 | name |
| 28881598 | CV888420 | single nucleotide variant | NM_031955.6(SPATA16):c.1389C>A (p.Ser463Arg) | Globozoospermia [RCV001149676] | uncertain significance | 3 | 172916431 | 172916431 | Human | 2 | name |
| 28881605 | CV888421 | single nucleotide variant | NM_031955.6(SPATA16):c.1361G>A (p.Gly454Asp) | Globozoospermia [RCV001149677] | uncertain significance | 3 | 172916459 | 172916459 | Human | 2 | name |
| 155977784 | CV2226468 | single nucleotide variant | NM_001166271.3(SPATA13):c.124G>A (p.Val42Met) | not specified [RCV004099671] | uncertain significance | 13 | 24223053 | 24223053 | Human | | name |
| 155947707 | CV2245758 | single nucleotide variant | NM_001166271.3(SPATA13):c.133C>T (p.Leu45Phe) | not specified [RCV004111619] | uncertain significance | 13 | 24223062 | 24223062 | Human | | name |
| 156286236 | CV2292063 | single nucleotide variant | NM_001166271.3(SPATA13):c.218T>C (p.Val73Ala) | not specified [RCV004160336] | uncertain significance | 13 | 24223147 | 24223147 | Human | | name |
| 155998585 | CV2373312 | single nucleotide variant | NM_001166271.3(SPATA13):c.191A>T (p.Glu64Val) | not specified [RCV004220022] | uncertain significance | 13 | 24223120 | 24223120 | Human | | name |
| 401752249 | CV2723172 | single nucleotide variant | NM_001166271.3(SPATA13):c.151G>A (p.Val51Ile) | not specified [RCV004329416] | uncertain significance | 13 | 24223080 | 24223080 | Human | | name |
| 597742087 | CV3600811 | single nucleotide variant | NM_001166271.3(SPATA13):c.221G>A (p.Arg74His) | not specified [RCV004865006] | uncertain significance | 13 | 24223150 | 24223150 | Human | | name |
| 597757429 | CV3600819 | single nucleotide variant | NM_001166271.3(SPATA13):c.175G>C (p.Asp59His) | not specified [RCV004868626] | uncertain significance | 13 | 24223104 | 24223104 | Human | | name |
| 598248850 | CV3922665 | single nucleotide variant | NM_001166271.3(SPATA13):c.223C>A (p.Leu75Ile) | not specified [RCV005277503] | uncertain significance | 13 | 24223152 | 24223152 | Human | | name |
| 598248915 | CV3922675 | single nucleotide variant | NM_001166271.3(SPATA13):c.233C>T (p.Thr78Ile) | not specified [RCV005277512] | uncertain significance | 13 | 24223162 | 24223162 | Human | | name |
| 156399525 | CV2205172 | single nucleotide variant | NM_001166271.3(SPATA13):c.418T>G (p.Ser140Ala) | not specified [RCV004077767] | uncertain significance | 13 | 24223347 | 24223347 | Human | | name |
| 156329105 | CV2213764 | single nucleotide variant | NM_001166271.3(SPATA13):c.419C>T (p.Ser140Leu) | not specified [RCV004089829] | likely benign | 13 | 24223348 | 24223348 | Human | | name |
| 156025500 | CV2242245 | single nucleotide variant | NM_001166271.3(SPATA13):c.523C>T (p.Pro175Ser) | not specified [RCV004111270] | uncertain significance | 13 | 24223452 | 24223452 | Human | | name |
| 156116794 | CV2283013 | single nucleotide variant | NM_001166271.3(SPATA13):c.496C>G (p.Pro166Ala) | not specified [RCV004143636] | uncertain significance | 13 | 24223425 | 24223425 | Human | | name |
| 156287638 | CV2301260 | single nucleotide variant | NM_001166271.3(SPATA13):c.395A>T (p.Asn132Ile) | not specified [RCV004160441] | uncertain significance | 13 | 24223324 | 24223324 | Human | | name |
| 156092241 | CV2302494 | single nucleotide variant | NM_001166271.3(SPATA13):c.835A>G (p.Thr279Ala) | not specified [RCV004161219] | uncertain significance | 13 | 24223764 | 24223764 | Human | | name |
| 156198039 | CV2306843 | single nucleotide variant | NM_001166271.3(SPATA13):c.768C>G (p.Asp256Glu) | not specified [RCV004159409] | uncertain significance | 13 | 24223697 | 24223697 | Human | | name |
| 329381263 | CV2464604 | single nucleotide variant | NM_001166271.3(SPATA13):c.579C>A (p.Phe193Leu) | not specified [RCV004278294] | uncertain significance | 13 | 24223508 | 24223508 | Human | | name |
| 401730100 | CV2700429 | single nucleotide variant | NM_001166271.3(SPATA13):c.884C>T (p.Thr295Ile) | not specified [RCV004311073] | uncertain significance | 13 | 24223813 | 24223813 | Human | | name |
| 401896809 | CV2788806 | single nucleotide variant | NM_001166271.3(SPATA13):c.790A>G (p.Ser264Gly) | not specified [RCV004361265] | uncertain significance | 13 | 24223719 | 24223719 | Human | | name |
| 401934103 | CV2813769 | single nucleotide variant | NM_001166271.3(SPATA13):c.3741C>T (p.Val1247=) | not provided [RCV003410986] | likely benign | 13 | 24302680 | 24302680 | Human | | name |
| 405788778 | CV3330088 | single nucleotide variant | NM_001166271.3(SPATA13):c.383G>A (p.Arg128Gln) | not specified [RCV004460115] | uncertain significance | 13 | 24223312 | 24223312 | Human | | name |
| 405788783 | CV3330089 | single nucleotide variant | NM_001166271.3(SPATA13):c.500G>T (p.Gly167Val) | not specified [RCV004460116] | uncertain significance | 13 | 24223429 | 24223429 | Human | | name |
| 405788786 | CV3330090 | single nucleotide variant | NM_001166271.3(SPATA13):c.610C>T (p.Arg204Cys) | not specified [RCV004460117] | uncertain significance | 13 | 24223539 | 24223539 | Human | | name |
| 405788790 | CV3330091 | single nucleotide variant | NM_001166271.3(SPATA13):c.611G>A (p.Arg204His) | not specified [RCV004460118] | uncertain significance | 13 | 24223540 | 24223540 | Human | | name |
| 405788794 | CV3330092 | single nucleotide variant | NM_001166271.3(SPATA13):c.707A>G (p.Glu236Gly) | not specified [RCV004460119] | uncertain significance | 13 | 24223636 | 24223636 | Human | | name |
| 405788797 | CV3330093 | single nucleotide variant | NM_001166271.3(SPATA13):c.829C>T (p.Leu277Phe) | not specified [RCV004460120] | uncertain significance | 13 | 24223758 | 24223758 | Human | | name |
| 407525477 | CV3481426 | single nucleotide variant | NM_001166271.3(SPATA13):c.398C>T (p.Ala133Val) | not specified [RCV004679276] | uncertain significance | 13 | 24223327 | 24223327 | Human | | name |
| 597742097 | CV3600815 | single nucleotide variant | NM_001166271.3(SPATA13):c.836C>T (p.Thr279Met) | not specified [RCV004865008] | uncertain significance | 13 | 24223765 | 24223765 | Human | | name |
| 597757425 | CV3600818 | single nucleotide variant | NM_001166271.3(SPATA13):c.566C>T (p.Thr189Met) | not specified [RCV004868625] | uncertain significance | 13 | 24223495 | 24223495 | Human | | name |
| 598238770 | CV3922674 | single nucleotide variant | NM_001166271.3(SPATA13):c.635T>G (p.Ile212Ser) | not specified [RCV005275891] | uncertain significance | 13 | 24223564 | 24223564 | Human | | name |
| 598248923 | CV3922676 | single nucleotide variant | NM_001166271.3(SPATA13):c.851G>A (p.Arg284Gln) | not specified [RCV005277513] | likely benign | 13 | 24223780 | 24223780 | Human | | name |
| 156366985 | CV2203439 | single nucleotide variant | NM_001166271.3(SPATA13):c.2603A>G (p.Asn868Ser) | not specified [RCV004072654] | uncertain significance | 13 | 24286886 | 24286886 | Human | | name |
| 156260229 | CV2204799 | single nucleotide variant | NM_001166271.3(SPATA13):c.1192T>C (p.Ser398Pro) | not specified [RCV004075054] | uncertain significance | 13 | 24224121 | 24224121 | Human | | name |
| 156326383 | CV2205731 | single nucleotide variant | NM_001166271.3(SPATA13):c.1787T>C (p.Leu596Pro) | not specified [RCV004075786] | uncertain significance | 13 | 24249610 | 24249610 | Human | | name |
| 156381042 | CV2219105 | single nucleotide variant | NM_001166271.3(SPATA13):c.1750C>T (p.Arg584Trp) | not specified [RCV004087264] | uncertain significance | 13 | 24249573 | 24249573 | Human | | name |
| 156328119 | CV2220010 | single nucleotide variant | NM_001166271.3(SPATA13):c.2129G>A (p.Arg710His) | not specified [RCV004095601] | uncertain significance | 13 | 24251827 | 24251827 | Human | | name |
| 155924599 | CV2220349 | single nucleotide variant | NM_001166271.3(SPATA13):c.2000T>C (p.Leu667Pro) | not specified [RCV004095765] | uncertain significance | 13 | 24249823 | 24249823 | Human | | name |
| 156064834 | CV2287214 | single nucleotide variant | NM_001166271.3(SPATA13):c.2399A>T (p.Gln800Leu) | not specified [RCV004146863] | uncertain significance | 13 | 24286311 | 24286311 | Human | | name |
| 156287626 | CV2301259 | single nucleotide variant | NM_001166271.3(SPATA13):c.1066C>T (p.Arg356Trp) | not specified [RCV004160440] | uncertain significance | 13 | 24223995 | 24223995 | Human | | name |
| 156294367 | CV2306406 | single nucleotide variant | NM_001166271.3(SPATA13):c.1172C>G (p.Pro391Arg) | not specified [RCV004156754] | uncertain significance | 13 | 24224101 | 24224101 | Human | | name |
| 156288256 | CV2327395 | single nucleotide variant | NM_001166271.3(SPATA13):c.1661C>G (p.Pro554Arg) | not specified [RCV004174820] | uncertain significance | 13 | 24249484 | 24249484 | Human | | name |
| 156044970 | CV2340145 | single nucleotide variant | NM_001166271.3(SPATA13):c.1871C>A (p.Ala624Glu) | not specified [RCV004192382] | uncertain significance | 13 | 24249694 | 24249694 | Human | | name |
| 155905314 | CV2349734 | single nucleotide variant | NM_001166271.3(SPATA13):c.1565T>C (p.Leu522Pro) | not specified [RCV004204148] | uncertain significance | 13 | 24224494 | 24224494 | Human | | name |
| 155997864 | CV2373223 | single nucleotide variant | NM_001166271.3(SPATA13):c.1657G>A (p.Val553Ile) | not specified [RCV004217895] | uncertain significance | 13 | 24249480 | 24249480 | Human | | name |
| 156347929 | CV2383009 | single nucleotide variant | NM_001166271.3(SPATA13):c.2138G>A (p.Arg713His) | not specified [RCV004217594] | uncertain significance | 13 | 24251836 | 24251836 | Human | | name |
| 156094105 | CV2398793 | single nucleotide variant | NM_001166271.3(SPATA13):c.2261G>A (p.Arg754Gln) | not specified [RCV004245119] | uncertain significance | 13 | 24284231 | 24284231 | Human | | name |
| 155933773 | CV2399385 | single nucleotide variant | NM_001166271.3(SPATA13):c.1633G>A (p.Glu545Lys) | not specified [RCV004242667] | uncertain significance | 13 | 24224562 | 24224562 | Human | | name |
| 329354057 | CV2436875 | single nucleotide variant | NM_001166271.3(SPATA13):c.2389G>T (p.Asp797Tyr) | not specified [RCV004260263] | uncertain significance | 13 | 24286301 | 24286301 | Human | | name |
| 329400826 | CV2449733 | single nucleotide variant | NM_001166271.3(SPATA13):c.1925A>G (p.Lys642Arg) | not specified [RCV004268630] | likely benign | 13 | 24249748 | 24249748 | Human | | name |
| 329373978 | CV2452749 | single nucleotide variant | NM_001166271.3(SPATA13):c.2143C>T (p.Arg715Trp) | not specified [RCV004275294] | uncertain significance | 13 | 24251841 | 24251841 | Human | | name |
| 329369698 | CV2461188 | single nucleotide variant | NM_001166271.3(SPATA13):c.1072C>T (p.His358Tyr) | not specified [RCV004267387] | uncertain significance | 13 | 24224001 | 24224001 | Human | | name |
| 329393123 | CV2469338 | single nucleotide variant | NM_001166271.3(SPATA13):c.2180G>T (p.Gly727Val) | not specified [RCV004280669] | uncertain significance | 13 | 24284150 | 24284150 | Human | | name |
| 401751923 | CV2672622 | single nucleotide variant | NM_001166271.3(SPATA13):c.1770C>A (p.Phe590Leu) | not specified [RCV004287648] | likely benign | 13 | 24249593 | 24249593 | Human | | name |
| 401741884 | CV2677459 | single nucleotide variant | NM_001166271.3(SPATA13):c.1124G>A (p.Arg375Gln) | not specified [RCV004289528] | uncertain significance | 13 | 24224053 | 24224053 | Human | | name |
| 401772076 | CV2687406 | single nucleotide variant | NM_001166271.3(SPATA13):c.2949T>A (p.Phe983Leu) | not specified [RCV004300655] | uncertain significance | 13 | 24290753 | 24290753 | Human | | name |
| 401761307 | CV2706295 | single nucleotide variant | NM_001166271.3(SPATA13):c.2234A>G (p.Tyr745Cys) | not specified [RCV004314956] | uncertain significance | 13 | 24284204 | 24284204 | Human | | name |
| 401752448 | CV2723239 | single nucleotide variant | NM_001166271.3(SPATA13):c.1670C>T (p.Pro557Leu) | not specified [RCV004329474] | uncertain significance | 13 | 24249493 | 24249493 | Human | | name |
| 401889771 | CV2763382 | single nucleotide variant | NM_001166271.3(SPATA13):c.2021C>T (p.Pro674Leu) | not specified [RCV004349272] | uncertain significance | 13 | 24251719 | 24251719 | Human | | name |
| 401860177 | CV2765488 | single nucleotide variant | NM_001166271.3(SPATA13):c.2141G>A (p.Arg714Gln) | not specified [RCV004341800] | uncertain significance | 13 | 24251839 | 24251839 | Human | | name |
| 401897095 | CV2789815 | single nucleotide variant | NM_001166271.3(SPATA13):c.1397C>T (p.Pro466Leu) | not specified [RCV004362209] | uncertain significance | 13 | 24224326 | 24224326 | Human | | name |
| 405788668 | CV3330064 | single nucleotide variant | NM_001166271.3(SPATA13):c.1013G>A (p.Arg338Lys) | not specified [RCV004460091] | likely benign | 13 | 24223942 | 24223942 | Human | | name |
| 405788673 | CV3330065 | single nucleotide variant | NM_001166271.3(SPATA13):c.1081T>C (p.Tyr361His) | not specified [RCV004460092] | uncertain significance | 13 | 24224010 | 24224010 | Human | | name |
| 405788677 | CV3330066 | single nucleotide variant | NM_001166271.3(SPATA13):c.1165G>A (p.Val389Met) | not specified [RCV004460093] | uncertain significance | 13 | 24224094 | 24224094 | Human | | name |
| 405788681 | CV3330067 | single nucleotide variant | NM_001166271.3(SPATA13):c.1367A>G (p.Asp456Gly) | not specified [RCV004460094] | uncertain significance | 13 | 24224296 | 24224296 | Human | | name |
| 405788685 | CV3330068 | single nucleotide variant | NM_001166271.3(SPATA13):c.1441G>A (p.Gly481Arg) | not specified [RCV004460095] | uncertain significance | 13 | 24224370 | 24224370 | Human | | name |
| 405788689 | CV3330069 | single nucleotide variant | NM_001166271.3(SPATA13):c.1778A>G (p.Tyr593Cys) | not specified [RCV004460096] | uncertain significance | 13 | 24249601 | 24249601 | Human | | name |
| 405788695 | CV3330070 | single nucleotide variant | NM_001166271.3(SPATA13):c.1849C>T (p.Arg617Cys) | not specified [RCV004460097] | uncertain significance | 13 | 24249672 | 24249672 | Human | | name |
| 405788700 | CV3330071 | single nucleotide variant | NM_001166271.3(SPATA13):c.1931C>A (p.Ala644Asp) | not specified [RCV004460098] | uncertain significance | 13 | 24249754 | 24249754 | Human | | name |
| 405788705 | CV3330072 | single nucleotide variant | NM_001166271.3(SPATA13):c.1942C>T (p.Arg648Cys) | not specified [RCV004460099] | uncertain significance | 13 | 24249765 | 24249765 | Human | | name |
| 405788710 | CV3330073 | single nucleotide variant | NM_001166271.3(SPATA13):c.2137C>T (p.Arg713Cys) | not specified [RCV004460100] | uncertain significance | 13 | 24251835 | 24251835 | Human | | name |
| 405788714 | CV3330074 | single nucleotide variant | NM_001166271.3(SPATA13):c.2315G>T (p.Gly772Val) | not specified [RCV004460101] | uncertain significance | 13 | 24286227 | 24286227 | Human | | name |
| 405788719 | CV3330075 | single nucleotide variant | NM_001166271.3(SPATA13):c.2593A>T (p.Met865Leu) | not specified [RCV004460102] | uncertain significance | 13 | 24286876 | 24286876 | Human | | name |
| 405788724 | CV3330076 | single nucleotide variant | NM_001166271.3(SPATA13):c.2714C>T (p.Ala905Val) | not specified [RCV004460103] | uncertain significance | 13 | 24289045 | 24289045 | Human | | name |
| 405788727 | CV3330077 | single nucleotide variant | NM_001166271.3(SPATA13):c.2896G>A (p.Ala966Thr) | not specified [RCV004460104] | uncertain significance | 13 | 24290700 | 24290700 | Human | | name |
| 407510579 | CV3481423 | single nucleotide variant | NM_001166271.3(SPATA13):c.1301C>T (p.Pro434Leu) | not specified [RCV004672783] | uncertain significance | 13 | 24224230 | 24224230 | Human | | name |
| 407510582 | CV3481424 | single nucleotide variant | NM_001166271.3(SPATA13):c.2452G>A (p.Glu818Lys) | not specified [RCV004672784] | uncertain significance | 13 | 24286364 | 24286364 | Human | | name |
| 407525474 | CV3481425 | single nucleotide variant | NM_001166271.3(SPATA13):c.1243A>G (p.Lys415Glu) | not specified [RCV004679275] | uncertain significance | 13 | 24224172 | 24224172 | Human | | name |
| 407510587 | CV3481428 | single nucleotide variant | NM_001166271.3(SPATA13):c.1009C>T (p.Pro337Ser) | not specified [RCV004672786] | uncertain significance | 13 | 24223938 | 24223938 | Human | | name |
| 407510590 | CV3481429 | single nucleotide variant | NM_001166271.3(SPATA13):c.2545G>A (p.Glu849Lys) | not specified [RCV004672787] | uncertain significance | 13 | 24286828 | 24286828 | Human | | name |
| 407510593 | CV3481430 | single nucleotide variant | NM_001166271.3(SPATA13):c.2728A>G (p.Ile910Val) | not specified [RCV004672788] | uncertain significance | 13 | 24289059 | 24289059 | Human | | name |
| 407510596 | CV3481431 | single nucleotide variant | NM_001166271.3(SPATA13):c.1627G>A (p.Gly543Ser) | not specified [RCV004672789] | likely benign | 13 | 24224556 | 24224556 | Human | | name |
| 407525479 | CV3481433 | single nucleotide variant | NM_001166271.3(SPATA13):c.1303A>C (p.Ile435Leu) | not specified [RCV004679277] | uncertain significance | 13 | 24224232 | 24224232 | Human | | name |
| 597742079 | CV3600806 | single nucleotide variant | NM_001166271.3(SPATA13):c.1558G>T (p.Asp520Tyr) | not specified [RCV004865004] | uncertain significance | 13 | 24224487 | 24224487 | Human | | name |
| 597757396 | CV3600808 | single nucleotide variant | NM_001166271.3(SPATA13):c.2456C>G (p.Ala819Gly) | not specified [RCV004868619] | uncertain significance | 13 | 24286368 | 24286368 | Human | | name |
| 597742083 | CV3600809 | single nucleotide variant | NM_001166271.3(SPATA13):c.2476G>A (p.Val826Ile) | not specified [RCV004865005] | uncertain significance | 13 | 24286388 | 24286388 | Human | | name |
| 597757402 | CV3600810 | single nucleotide variant | NM_001166271.3(SPATA13):c.2438G>A (p.Arg813His) | not specified [RCV004868620] | uncertain significance | 13 | 24286350 | 24286350 | Human | | name |
| 597757407 | CV3600813 | single nucleotide variant | NM_001166271.3(SPATA13):c.1403C>T (p.Thr468Ile) | not specified [RCV004868621] | uncertain significance | 13 | 24224332 | 24224332 | Human | | name |
| 597757411 | CV3600814 | single nucleotide variant | NM_001166271.3(SPATA13):c.2564G>A (p.Arg855His) | not specified [RCV004868622] | uncertain significance | 13 | 24286847 | 24286847 | Human | | name |
| 597757417 | CV3600816 | single nucleotide variant | NM_001166271.3(SPATA13):c.1345G>A (p.Ala449Thr) | not specified [RCV004868623] | uncertain significance | 13 | 24224274 | 24224274 | Human | | name |
| 597757700 | CV3600817 | single nucleotide variant | NM_001166271.3(SPATA13):c.2320G>A (p.Val774Met) | not specified [RCV004868624] | uncertain significance | 13 | 24286232 | 24286232 | Human | | name |
| 597757433 | CV3600820 | single nucleotide variant | NM_001166271.3(SPATA13):c.2710G>T (p.Val904Phe) | not specified [RCV004868627] | uncertain significance | 13 | 24289041 | 24289041 | Human | | name |
| 597757438 | CV3600821 | single nucleotide variant | NM_001166271.3(SPATA13):c.1530G>C (p.Gln510His) | not specified [RCV004868628] | uncertain significance | 13 | 24224459 | 24224459 | Human | | name |
| 597757443 | CV3600822 | single nucleotide variant | NM_001166271.3(SPATA13):c.2174A>G (p.Asp725Gly) | not specified [RCV004868629] | uncertain significance | 13 | 24284144 | 24284144 | Human | | name |
| 597757451 | CV3600824 | single nucleotide variant | NM_001166271.3(SPATA13):c.2116A>G (p.Ile706Val) | not specified [RCV004868631] | uncertain significance | 13 | 24251814 | 24251814 | Human | | name |
| 597742101 | CV3600825 | single nucleotide variant | NM_001166271.3(SPATA13):c.2804A>G (p.Glu935Gly) | not specified [RCV004865009] | uncertain significance | 13 | 24289135 | 24289135 | Human | | name |
| 597757456 | CV3600826 | single nucleotide variant | NM_001166271.3(SPATA13):c.2096C>T (p.Thr699Ile) | not specified [RCV004868632] | uncertain significance | 13 | 24251794 | 24251794 | Human | | name |
| 597757460 | CV3600827 | single nucleotide variant | NM_001166271.3(SPATA13):c.2620A>C (p.Met874Leu) | not specified [RCV004868633] | uncertain significance | 13 | 24286903 | 24286903 | Human | | name |
| 597757465 | CV3600828 | single nucleotide variant | NM_001166271.3(SPATA13):c.1225G>A (p.Val409Ile) | not specified [RCV004868634] | uncertain significance | 13 | 24224154 | 24224154 | Human | | name |
| 597757470 | CV3600830 | single nucleotide variant | NM_001166271.3(SPATA13):c.2165T>C (p.Val722Ala) | not specified [RCV004868635] | uncertain significance | 13 | 24284135 | 24284135 | Human | | name |
| 598248808 | CV3922659 | single nucleotide variant | NM_001166271.3(SPATA13):c.2563C>T (p.Arg855Cys) | not specified [RCV005277497] | uncertain significance | 13 | 24286846 | 24286846 | Human | | name |
| 598248814 | CV3922660 | single nucleotide variant | NM_001166271.3(SPATA13):c.1976A>G (p.Tyr659Cys) | not specified [RCV005277498] | uncertain significance | 13 | 24249799 | 24249799 | Human | | name |
| 598248821 | CV3922661 | single nucleotide variant | NM_001166271.3(SPATA13):c.1902G>C (p.Gln634His) | not specified [RCV005277499] | uncertain significance | 13 | 24249725 | 24249725 | Human | | name |
| 598248843 | CV3922664 | single nucleotide variant | NM_001166271.3(SPATA13):c.1679G>A (p.Arg560Gln) | not specified [RCV005277502] | uncertain significance | 13 | 24249502 | 24249502 | Human | | name |
| 598248857 | CV3922666 | single nucleotide variant | NM_001166271.3(SPATA13):c.1934G>A (p.Arg645Gln) | not specified [RCV005277504] | uncertain significance | 13 | 24249757 | 24249757 | Human | | name |
| 598248871 | CV3922668 | single nucleotide variant | NM_001166271.3(SPATA13):c.1614T>G (p.Ile538Met) | not specified [RCV005277506] | uncertain significance | 13 | 24224543 | 24224543 | Human | | name |
| 598248886 | CV3922670 | single nucleotide variant | NM_001166271.3(SPATA13):c.2608A>C (p.Ile870Leu) | not specified [RCV005277508] | uncertain significance | 13 | 24286891 | 24286891 | Human | | name |
| 598248894 | CV3922671 | single nucleotide variant | NM_001166271.3(SPATA13):c.2419A>G (p.Lys807Glu) | not specified [RCV005277509] | uncertain significance | 13 | 24286331 | 24286331 | Human | | name |
| 598248907 | CV3922673 | single nucleotide variant | NM_001166271.3(SPATA13):c.2532T>A (p.Ser844Arg) | not specified [RCV005277511] | uncertain significance | 13 | 24286815 | 24286815 | Human | | name |
| 8635000 | CV90222 | single nucleotide variant | NM_001166271.2(SPATA13):c.2432G>A (p.Trp811Ter) | Malignant melanoma [RCV000070320] | not provided | 13 | 24286344 | 24286344 | Human | | name |
| 156332720 | CV2220729 | single nucleotide variant | NM_001166271.3(SPATA13):c.3358A>G (p.Met1120Val) | not specified [RCV004097897] | likely benign | 13 | 24297510 | 24297510 | Human | | name |
| 156076391 | CV2281583 | single nucleotide variant | NM_001166271.3(SPATA13):c.3173A>G (p.Lys1058Arg) | not specified [RCV004153881] | uncertain significance | 13 | 24294831 | 24294831 | Human | | name |
| 156046076 | CV2308130 | single nucleotide variant | NM_001166271.3(SPATA13):c.3215T>C (p.Leu1072Pro) | not specified [RCV004170541] | uncertain significance | 13 | 24297367 | 24297367 | Human | | name |
| 401875747 | CV2789152 | single nucleotide variant | NM_001166271.3(SPATA13):c.3821C>T (p.Pro1274Leu) | not specified [RCV004365202] | uncertain significance | 13 | 24302760 | 24302760 | Human | | name |
| 405788732 | CV3330078 | single nucleotide variant | NM_001166271.3(SPATA13):c.3111G>T (p.Glu1037Asp) | not specified [RCV004460105] | uncertain significance | 13 | 24294769 | 24294769 | Human | | name |
| 405788736 | CV3330079 | single nucleotide variant | NM_001166271.3(SPATA13):c.3182G>T (p.Arg1061Leu) | not specified [RCV004460106] | uncertain significance | 13 | 24294840 | 24294840 | Human | | name |
| 405788742 | CV3330080 | single nucleotide variant | NM_001166271.3(SPATA13):c.3291G>T (p.Gln1097His) | not specified [RCV004460107] | uncertain significance | 13 | 24297443 | 24297443 | Human | | name |
| 405788746 | CV3330081 | single nucleotide variant | NM_001166271.3(SPATA13):c.3295C>T (p.Arg1099Trp) | not specified [RCV004460108] | uncertain significance | 13 | 24297447 | 24297447 | Human | | name |
| 405788751 | CV3330082 | single nucleotide variant | NM_001166271.3(SPATA13):c.3316C>T (p.His1106Tyr) | not specified [RCV004460109] | uncertain significance | 13 | 24297468 | 24297468 | Human | | name |
| 405788756 | CV3330083 | single nucleotide variant | NM_001166271.3(SPATA13):c.3350G>A (p.Arg1117His) | not specified [RCV004460110] | uncertain significance | 13 | 24297502 | 24297502 | Human | | name |
| 405788761 | CV3330084 | single nucleotide variant | NM_001166271.3(SPATA13):c.3401T>C (p.Leu1134Pro) | not specified [RCV004460111] | uncertain significance | 13 | 24297553 | 24297553 | Human | | name |
| 405788765 | CV3330085 | single nucleotide variant | NM_001166271.3(SPATA13):c.3445G>A (p.Val1149Met) | not specified [RCV004460112] | uncertain significance | 13 | 24297597 | 24297597 | Human | | name |
| 405788770 | CV3330086 | single nucleotide variant | NM_001166271.3(SPATA13):c.3716G>A (p.Arg1239His) | not specified [RCV004460113] | uncertain significance | 13 | 24302655 | 24302655 | Human | | name |
| 405788775 | CV3330087 | single nucleotide variant | NM_001166271.3(SPATA13):c.3739G>A (p.Val1247Ile) | not specified [RCV004460114] | likely benign | 13 | 24302678 | 24302678 | Human | | name |
| 407510584 | CV3481427 | single nucleotide variant | NM_001166271.3(SPATA13):c.3202G>T (p.Gly1068Cys) | not specified [RCV004672785] | uncertain significance | 13 | 24294860 | 24294860 | Human | | name |
| 407510599 | CV3481432 | single nucleotide variant | NM_001166271.3(SPATA13):c.3319C>G (p.Gln1107Glu) | not specified [RCV004672790] | uncertain significance | 13 | 24297471 | 24297471 | Human | | name |
| 597757387 | CV3600805 | single nucleotide variant | NM_001166271.3(SPATA13):c.3575A>G (p.Lys1192Arg) | not specified [RCV004868617] | likely benign | 13 | 24297727 | 24297727 | Human | | name |
| 597757392 | CV3600807 | single nucleotide variant | NM_001166271.3(SPATA13):c.3079G>A (p.Gly1027Ser) | not specified [RCV004868618] | likely benign | 13 | 24290883 | 24290883 | Human | | name |
| 597742092 | CV3600812 | single nucleotide variant | NM_001166271.3(SPATA13):c.3199G>A (p.Val1067Met) | not specified [RCV004865007] | uncertain significance | 13 | 24294857 | 24294857 | Human | | name |
| 597757447 | CV3600823 | single nucleotide variant | NM_001166271.3(SPATA13):c.3035C>T (p.Pro1012Leu) | not specified [RCV004868630] | uncertain significance | 13 | 24290839 | 24290839 | Human | | name |
| 597742106 | CV3600829 | single nucleotide variant | NM_001166271.3(SPATA13):c.3049G>A (p.Glu1017Lys) | not specified [RCV004865010] | uncertain significance | 13 | 24290853 | 24290853 | Human | | name |
| 598248799 | CV3922658 | single nucleotide variant | NM_001166271.3(SPATA13):c.3827G>A (p.Arg1276Gln) | not specified [RCV005277496] | uncertain significance | 13 | 24302766 | 24302766 | Human | | name |
| 598248828 | CV3922662 | single nucleotide variant | NM_001166271.3(SPATA13):c.3466G>A (p.Val1156Ile) | not specified [RCV005277500] | uncertain significance | 13 | 24297618 | 24297618 | Human | | name |
| 598248835 | CV3922663 | single nucleotide variant | NM_001166271.3(SPATA13):c.3329C>G (p.Ser1110Cys) | not specified [RCV005277501] | uncertain significance | 13 | 24297481 | 24297481 | Human | | name |
| 598248863 | CV3922667 | single nucleotide variant | NM_001166271.3(SPATA13):c.3169G>A (p.Asp1057Asn) | not specified [RCV005277505] | uncertain significance | 13 | 24294827 | 24294827 | Human | | name |
| 598248879 | CV3922669 | single nucleotide variant | NM_001166271.3(SPATA13):c.3403G>A (p.Val1135Met) | not specified [RCV005277507] | uncertain significance | 13 | 24297555 | 24297555 | Human | | name |
| 598248900 | CV3922672 | single nucleotide variant | NM_001166271.3(SPATA13):c.3190G>A (p.Val1064Met) | not specified [RCV005277510] | uncertain significance | 13 | 24294848 | 24294848 | Human | | name |