| 8568446 | CV39538 | deletion | ATL1, 1-BP DEL, 976G | Hereditary sensory neuropathy type 1D [RCV000023544]|NEUROPATHY, HEREDITARY SENSORY, TYPE ID [RCV000023544] | pathogenic | | | | Human | | name |
| 8558038 | CV19389 | insertion | ATL1, 1-BP INS, 1688A | Hereditary spastic paraplegia 3A [RCV000004598] | pathogenic | | | | Human | | name |
| 401829271 | CV2743716 | single nucleotide variant | NM_015915.5(ATL1):c.*87C>G | not provided [RCV003326892] | likely benign | 14 | 50632426 | 50632426 | Human | | name |
| 126737673 | CV1011124 | single nucleotide variant | NM_015915.5(ATL1):c.35-3C>T | Hereditary spastic paraplegia 3A [RCV001314012] | uncertain significance | 14 | 50587828 | 50587828 | Human | 1 | name |
| 155915603 | CV2063132 | single nucleotide variant | NM_015915.5(ATL1):c.34+3G>C | Hereditary spastic paraplegia 3A [RCV002838036] | uncertain significance | 14 | 50560302 | 50560302 | Human | 1 | name |
| 156164296 | CV2159150 | single nucleotide variant | NM_015915.5(ATL1):c.35-8T>C | Hereditary spastic paraplegia 3A [RCV003023308] | likely benign | 14 | 50587823 | 50587823 | Human | 1 | name |
| 402465092 | CV2854958 | single nucleotide variant | NM_015915.5(ATL1):c.35-1G>A | Hereditary spastic paraplegia 3A [RCV003502917] | likely pathogenic | 14 | 50587830 | 50587830 | Human | 1 | name |
| 405070460 | CV3065114 | single nucleotide variant | NM_015915.5(ATL1):c.34+6T>G | Hereditary spastic paraplegia 3A [RCV003612144] | uncertain significance | 14 | 50560305 | 50560305 | Human | 1 | name |
| 11601831 | CV320671 | single nucleotide variant | NM_015915.5(ATL1):c.*305T>C | Hereditary spastic paraplegia 3A [RCV000285544]|Neuropathy, hereditary sensory, type 1D [RCV002259851]|not provided [RCV001574920] | benign|likely benign | 14 | 50632644 | 50632644 | Human | 2 | name |
| 11661787 | CV329487 | single nucleotide variant | NM_015915.5(ATL1):c.*304C>T | Hereditary spastic paraplegia 3A [RCV000380046] | uncertain significance | 14 | 50632643 | 50632643 | Human | 1 | name |
| 11626112 | CV329489 | single nucleotide variant | NM_015915.5(ATL1):c.*450A>G | Hereditary spastic paraplegia 3A [RCV000406965] | benign|likely benign | 14 | 50632789 | 50632789 | Human | 1 | name |
| 11625828 | CV329491 | single nucleotide variant | NM_015915.5(ATL1):c.*621G>A | Hereditary spastic paraplegia 3A [RCV000403138] | benign|likely benign | 14 | 50632960 | 50632960 | Human | 1 | name |
| 11620641 | CV336054 | single nucleotide variant | NM_015915.5(ATL1):c.*212T>A | Hereditary spastic paraplegia 3A [RCV000339497] | benign|likely benign | 14 | 50632551 | 50632551 | Human | 1 | name |
| 11621175 | CV336055 | single nucleotide variant | NM_015915.5(ATL1):c.*392C>A | Hereditary spastic paraplegia 3A [RCV000345218] | benign|likely benign | 14 | 50632731 | 50632731 | Human | 1 | name |
| 11658082 | CV336058 | single nucleotide variant | NM_015915.5(ATL1):c.*528A>C | Hereditary spastic paraplegia 3A [RCV000345997] | uncertain significance | 14 | 50632867 | 50632867 | Human | 1 | name |
| 11653480 | CV336059 | single nucleotide variant | NM_015915.5(ATL1):c.*653T>C | Hereditary spastic paraplegia 3A [RCV000311056] | uncertain significance | 14 | 50632992 | 50632992 | Human | 1 | name |
| 11618002 | CV337996 | single nucleotide variant | NM_015915.5(ATL1):c.*475G>A | Hereditary spastic paraplegia 3A [RCV000309749] | benign|likely benign | 14 | 50632814 | 50632814 | Human | 1 | name |
| 28870821 | CV871914 | single nucleotide variant | NM_015915.5(ATL1):c.*109A>C | Hereditary spastic paraplegia 3A [RCV001113749] | uncertain significance | 14 | 50632448 | 50632448 | Human | 1 | name |
| 28870824 | CV871915 | single nucleotide variant | NM_015915.5(ATL1):c.*180A>C | Hereditary spastic paraplegia 3A [RCV001113750] | uncertain significance | 14 | 50632519 | 50632519 | Human | 1 | name |
| 28910979 | CV871916 | single nucleotide variant | NM_015915.5(ATL1):c.*327A>G | Hereditary spastic paraplegia 3A [RCV001109729] | uncertain significance | 14 | 50632666 | 50632666 | Human | 1 | name |
| 28910980 | CV871917 | single nucleotide variant | NM_015915.5(ATL1):c.*335C>T | Hereditary spastic paraplegia 3A [RCV001109730] | uncertain significance | 14 | 50632674 | 50632674 | Human | 1 | name |
| 28910981 | CV871918 | single nucleotide variant | NM_015915.5(ATL1):c.*371T>A | Hereditary spastic paraplegia 3A [RCV001109731] | uncertain significance | 14 | 50632710 | 50632710 | Human | 1 | name |
| 28910982 | CV871919 | single nucleotide variant | NM_015915.5(ATL1):c.*464C>T | Hereditary spastic paraplegia 3A [RCV001109732] | uncertain significance | 14 | 50632803 | 50632803 | Human | 1 | name |
| 38490788 | CV960804 | single nucleotide variant | NM_015915.5(ATL1):c.34+4A>G | Hereditary spastic paraplegia 3A [RCV001239043] | uncertain significance | 14 | 50560303 | 50560303 | Human | 1 | name |
| 127306094 | CV1144629 | single nucleotide variant | NM_015915.5(ATL1):c.631-7T>G | Hereditary spastic paraplegia 3A [RCV001500101] | likely benign | 14 | 50613252 | 50613252 | Human | 1 | name |
| 150462864 | CV1253723 | single nucleotide variant | NM_015915.5(ATL1):c.35-74G>C | not provided [RCV001669765] | benign | 14 | 50587757 | 50587757 | Human | | name |
| 8690181 | CV140131 | single nucleotide variant | NM_015915.5(ATL1):c.630+7G>A | ATL1-related disorder [RCV003982898]|Hereditary spastic paraplegia 3A [RCV000860437]|Neuropathy, hereditary sensory, type 1D [RCV002259650]|not provided [RCV004715707]|not specified [RCV000123709] | benign | 14 | 50595639 | 50595639 | Human | 2 | name , trait , alternate_id |
| 152050201 | CV1527734 | single nucleotide variant | NM_015915.5(ATL1):c.35-20G>T | Hereditary spastic paraplegia 3A [RCV002089058] | likely benign | 14 | 50587811 | 50587811 | Human | 1 | name |
| 152047883 | CV1569592 | deletion | NM_015915.5(ATL1):c.991-3del | Hereditary spastic paraplegia 3A [RCV002126864] | benign | 14 | 50621832 | 50621832 | Human | 1 | name |
| 152045161 | CV1588735 | single nucleotide variant | NM_015915.5(ATL1):c.34+10A>G | Hereditary spastic paraplegia 3A [RCV002188750] | likely benign | 14 | 50560309 | 50560309 | Human | 1 | name |
| 152062235 | CV1594462 | single nucleotide variant | NM_015915.5(ATL1):c.35-10T>C | Hereditary spastic paraplegia 3A [RCV002110252] | likely benign | 14 | 50587821 | 50587821 | Human | 1 | name |
| 152031649 | CV1629208 | single nucleotide variant | NM_015915.5(ATL1):c.35-11C>A | Hereditary spastic paraplegia 3A [RCV002106208] | likely benign | 14 | 50587820 | 50587820 | Human | 1 | name |
| 155746952 | CV1800429 | single nucleotide variant | NM_015915.5(ATL1):c.574-3T>C | Inborn genetic diseases [RCV002347801] | uncertain significance | 14 | 50595573 | 50595573 | Human | 1 | name |
| 155746964 | CV1800439 | single nucleotide variant | NM_015915.5(ATL1):c.574-6T>C | Hereditary spastic paraplegia 3A [RCV003103225]|Inborn genetic diseases [RCV002347811] | likely benign | 14 | 50595570 | 50595570 | Human | 2 | name |
| 156162902 | CV1903164 | single nucleotide variant | NM_015915.5(ATL1):c.35-15T>C | Hereditary spastic paraplegia 3A [RCV003082966] | likely benign | 14 | 50587816 | 50587816 | Human | 1 | name |
| 10053064 | CV195727 | single nucleotide variant | NM_015915.5(ATL1):c.631-7T>A | ATL1-related disorder [RCV003947533]|Hereditary spastic paraplegia 3A [RCV001081633]|not provided [RCV000724713] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50613252 | 50613252 | Human | 1 | name , trait , alternate_id |
| 156402792 | CV2010119 | single nucleotide variant | NM_015915.5(ATL1):c.34+16G>C | Hereditary spastic paraplegia 3A [RCV002726156] | likely benign | 14 | 50560315 | 50560315 | Human | 1 | name |
| 156175439 | CV2038179 | single nucleotide variant | NM_015915.5(ATL1):c.630+9G>A | Hereditary spastic paraplegia 3A [RCV002741995] | likely benign | 14 | 50595641 | 50595641 | Human | 1 | name |
| 156086184 | CV2080054 | single nucleotide variant | NM_015915.5(ATL1):c.522+5G>A | Hereditary spastic paraplegia 3A [RCV002847553] | uncertain significance | 14 | 50591644 | 50591644 | Human | 1 | name |
| 156183464 | CV2102560 | deletion | NM_015915.5(ATL1):c.574-5del | Hereditary spastic paraplegia 3A [RCV002917219] | benign | 14 | 50595564 | 50595564 | Human | 1 | name |
| 156176209 | CV2144779 | single nucleotide variant | NM_015915.5(ATL1):c.990+9C>G | Hereditary spastic paraplegia 3A [RCV003005558] | likely benign | 14 | 50620735 | 50620735 | Human | 1 | name |
| 243064098 | CV2410875 | single nucleotide variant | NM_015915.5(ATL1):c.417+1G>T | not provided [RCV003142714] | likely pathogenic | 14 | 50591076 | 50591076 | Human | | name |
| 401859349 | CV2794311 | single nucleotide variant | NM_015915.5(ATL1):c.522+1G>T | Hereditary spastic paraplegia 3A [RCV003384313] | likely pathogenic | 14 | 50591640 | 50591640 | Human | 1 | name |
| 401902005 | CV2810412 | single nucleotide variant | NM_015915.5(ATL1):c.417+4T>A | not provided [RCV003393423] | likely benign | 14 | 50591079 | 50591079 | Human | | name |
| 401902007 | CV2810414 | single nucleotide variant | NM_015915.5(ATL1):c.630+6C>T | not provided [RCV003393425] | uncertain significance | 14 | 50595638 | 50595638 | Human | | name |
| 405066765 | CV2959986 | single nucleotide variant | NM_015915.5(ATL1):c.35-16C>T | Hereditary spastic paraplegia 3A [RCV003611862] | likely benign | 14 | 50587815 | 50587815 | Human | 1 | name |
| 405051146 | CV3081656 | single nucleotide variant | NM_015915.5(ATL1):c.418-8G>T | not provided [RCV003740616] | likely benign | 14 | 50591527 | 50591527 | Human | | name |
| 405201621 | CV3128935 | single nucleotide variant | NM_015915.5(ATL1):c.34+16G>T | Hereditary spastic paraplegia 3A [RCV003821978] | likely benign | 14 | 50560315 | 50560315 | Human | 1 | name |
| 405154966 | CV3159338 | single nucleotide variant | NM_015915.5(ATL1):c.724-9T>G | Hereditary spastic paraplegia 3A [RCV003856603] | uncertain significance | 14 | 50614364 | 50614364 | Human | 1 | name |
| 11611230 | CV320649 | single nucleotide variant | NM_015915.5(ATL1):c.417+3A>G | Hereditary spastic paraplegia 3A [RCV000558085]|Hereditary spastic paraplegia 3A [RCV002487388]|Hereditary spastic paraplegia [RCV001848110]|Neuropathy, hereditary sensory, type 1D [RCV002259846]|not provided [RCV001690040] | benign|likely benign | 14 | 50591078 | 50591078 | Human | 3 | name |
| 11624600 | CV329483 | single nucleotide variant | NM_015915.5(ATL1):c.991-6T>G | Hereditary spastic paraplegia 3A [RCV000388283]|Hereditary spastic paraplegia [RCV001848113]|Inborn genetic diseases [RCV002379192]|Neuropathy, hereditary sensory, type 1D [RCV002259850] | benign|likely benign | 14 | 50621837 | 50621837 | Human | 4 | name |
| 11653075 | CV336042 | single nucleotide variant | NM_015915.5(ATL1):c.630+6C>A | Hereditary spastic paraplegia 3A [RCV000308265] | uncertain significance | 14 | 50595638 | 50595638 | Human | 1 | name |
| 597895253 | CV3744149 | single nucleotide variant | NM_015915.5(ATL1):c.283-8T>C | Hereditary spastic paraplegia 3A [RCV005071619] | likely benign | 14 | 50590933 | 50590933 | Human | 1 | name |
| 597848651 | CV3792987 | single nucleotide variant | NM_015915.5(ATL1):c.863-3T>C | Hereditary spastic paraplegia 3A [RCV005145123] | uncertain significance | 14 | 50620596 | 50620596 | Human | 1 | name |
| 597970187 | CV3822001 | single nucleotide variant | NM_015915.5(ATL1):c.862+3T>G | Hereditary spastic paraplegia 3A [RCV005166464] | uncertain significance | 14 | 50614514 | 50614514 | Human | 1 | name |
| 597900599 | CV3855078 | single nucleotide variant | NM_015915.5(ATL1):c.862+4T>G | Hereditary spastic paraplegia 3A [RCV005201986] | uncertain significance | 14 | 50614515 | 50614515 | Human | 1 | name |
| 12885124 | CV399673 | single nucleotide variant | NM_015915.5(ATL1):c.990+4T>A | Hereditary spastic paraplegia 3A [RCV000464748]|Inborn genetic diseases [RCV002379471]|not specified [RCV000518566] | likely benign|uncertain significance | 14 | 50620730 | 50620730 | Human | 2 | name |
| 12902392 | CV409128 | duplication | NM_015915.5(ATL1):c.991-3dup | Hereditary spastic paraplegia 3A [RCV002063791]|Inborn genetic diseases [RCV002383923]|Neuropathy, hereditary sensory, type 1D [RCV002259965]|not provided [RCV004719084] | benign|likely benign | 14 | 50621831 | 50621832 | Human | 3 | name |
| 13480819 | CV464292 | single nucleotide variant | NM_015915.5(ATL1):c.630+3G>A | Hereditary spastic paraplegia 3A [RCV000551150]|Inborn genetic diseases [RCV002358562] | uncertain significance | 14 | 50595635 | 50595635 | Human | 2 | name |
| 13538391 | CV504793 | single nucleotide variant | NM_015915.5(ATL1):c.34+16G>A | Hereditary spastic paraplegia 3A [RCV003767662]|not specified [RCV000611772] | likely benign | 14 | 50560315 | 50560315 | Human | 1 | name |
| 13538083 | CV504799 | single nucleotide variant | NM_015915.5(ATL1):c.35-14G>A | Hereditary spastic paraplegia 3A [RCV002064372]|Neuropathy, hereditary sensory, type 1D [RCV002260029]|not provided [RCV003736857]|not specified [RCV000611316] | benign | 14 | 50587817 | 50587817 | Human | 2 | name |
| 126726967 | CV995862 | single nucleotide variant | NM_015915.5(ATL1):c.282+4T>C | Hereditary spastic paraplegia 3A [RCV001303043] | uncertain significance | 14 | 50588082 | 50588082 | Human | 1 | name |
| 127275457 | CV1102327 | single nucleotide variant | NM_015915.5(ATL1):c.522+10A>G | Hereditary spastic paraplegia 3A [RCV001443332] | likely benign | 14 | 50591649 | 50591649 | Human | 1 | name |
| 150334139 | CV1164460 | single nucleotide variant | NM_015915.5(ATL1):c.418-19G>T | Hereditary spastic paraplegia 3A [RCV002070360]|Neuropathy, hereditary sensory, type 1D [RCV001553935]|not provided [RCV001692448]|not specified [RCV001529324] | benign | 14 | 50591516 | 50591516 | Human | 2 | name |
| 150409068 | CV1177785 | single nucleotide variant | NM_015915.5(ATL1):c.574-24G>C | not provided [RCV001546118] | likely benign | 14 | 50595552 | 50595552 | Human | | name |
| 150420515 | CV1181171 | deletion | NM_015915.5(ATL1):c.34+109del | not provided [RCV001551582] | likely benign | 14 | 50560408 | 50560408 | Human | | name |
| 150418733 | CV1194841 | single nucleotide variant | NM_015915.5(ATL1):c.283-56G>A | not provided [RCV001569355] | likely benign | 14 | 50590885 | 50590885 | Human | | name |
| 150468804 | CV1257105 | single nucleotide variant | NM_015915.5(ATL1):c.34+110G>C | not provided [RCV001670751] | benign | 14 | 50560409 | 50560409 | Human | | name |
| 151667843 | CV1462783 | single nucleotide variant | NM_015915.5(ATL1):c.522+19T>C | Hereditary spastic paraplegia 3A [RCV001991533] | likely benign | 14 | 50591658 | 50591658 | Human | 1 | name |
| 151715627 | CV1482394 | duplication | NM_015915.5(ATL1):c.1566+2dup | Hereditary spastic paraplegia 3A [RCV002020919] | uncertain significance | 14 | 50630010 | 50630011 | Human | 1 | name |
| 152141247 | CV1520581 | single nucleotide variant | NM_015915.5(ATL1):c.1119+7G>A | Hereditary spastic paraplegia 3A [RCV002178086] | likely benign | 14 | 50623255 | 50623255 | Human | 1 | name |
| 152103472 | CV1569493 | single nucleotide variant | NM_015915.5(ATL1):c.991-12C>G | Hereditary spastic paraplegia 3A [RCV002115649] | likely benign | 14 | 50621831 | 50621831 | Human | 1 | name |
| 152107232 | CV1581850 | single nucleotide variant | NM_015915.5(ATL1):c.630+20T>C | Hereditary spastic paraplegia 3A [RCV002079771] | likely benign | 14 | 50595652 | 50595652 | Human | 1 | name |
| 152107021 | CV1609736 | duplication | NM_015915.5(ATL1):c.991-13dup | Hereditary spastic paraplegia 3A [RCV002116055] | benign | 14 | 50621825 | 50621826 | Human | 1 | name |
| 152140048 | CV1613784 | single nucleotide variant | NM_015915.5(ATL1):c.522+15C>T | Hereditary spastic paraplegia 3A [RCV002084037] | likely benign | 14 | 50591654 | 50591654 | Human | 1 | name |
| 152036353 | CV1617557 | single nucleotide variant | NM_015915.5(ATL1):c.282+15C>G | Hereditary spastic paraplegia 3A [RCV002125392] | likely benign | 14 | 50588093 | 50588093 | Human | 1 | name |
| 152038635 | CV1644261 | single nucleotide variant | NM_015915.5(ATL1):c.522+19T>G | Hereditary spastic paraplegia 3A [RCV002165353] | likely benign | 14 | 50591658 | 50591658 | Human | 1 | name |
| 156270931 | CV1870725 | duplication | NM_015915.5(ATL1):c.573+24dup | Hereditary spastic paraplegia 3A [RCV003060714] | benign | 14 | 50593914 | 50593915 | Human | 1 | name |
| 156408963 | CV1880005 | single nucleotide variant | NM_015915.5(ATL1):c.283-16C>G | Hereditary spastic paraplegia 3A [RCV003071477] | likely benign | 14 | 50590925 | 50590925 | Human | 1 | name |
| 156011075 | CV1880438 | single nucleotide variant | NM_015915.5(ATL1):c.991-19T>A | Hereditary spastic paraplegia 3A [RCV003077092] | likely benign | 14 | 50621824 | 50621824 | Human | 1 | name |
| 156350274 | CV1886122 | single nucleotide variant | NM_015915.5(ATL1):c.418-19G>A | Hereditary spastic paraplegia 3A [RCV003090920] | likely benign | 14 | 50591516 | 50591516 | Human | 1 | name |
| 156192475 | CV1904217 | single nucleotide variant | NM_015915.5(ATL1):c.574-20G>A | Hereditary spastic paraplegia 3A [RCV002574458] | likely benign | 14 | 50595556 | 50595556 | Human | 1 | name |
| 156325904 | CV1972697 | single nucleotide variant | NM_015915.5(ATL1):c.573+14T>C | Hereditary spastic paraplegia 3A [RCV002600524] | likely benign | 14 | 50593910 | 50593910 | Human | 1 | name |
| 156201102 | CV2010911 | single nucleotide variant | NM_015915.5(ATL1):c.862+15A>G | Hereditary spastic paraplegia 3A [RCV002700282] | likely benign|uncertain significance | 14 | 50614526 | 50614526 | Human | 1 | name |
| 156214611 | CV2028594 | single nucleotide variant | NM_015915.5(ATL1):c.418-14C>G | Hereditary spastic paraplegia 3A [RCV002711900] | likely benign | 14 | 50591521 | 50591521 | Human | 1 | name |
| 155953627 | CV2043874 | single nucleotide variant | NM_015915.5(ATL1):c.991-16T>C | Hereditary spastic paraplegia 3A [RCV002775905] | likely benign | 14 | 50621827 | 50621827 | Human | 1 | name |
| 155937168 | CV2071481 | single nucleotide variant | NM_015915.5(ATL1):c.574-19T>C | Hereditary spastic paraplegia 3A [RCV002839161] | likely benign | 14 | 50595557 | 50595557 | Human | 1 | name |
| 156233216 | CV2108515 | single nucleotide variant | NM_015915.5(ATL1):c.282+15C>T | Hereditary spastic paraplegia 3A [RCV002919016] | likely benign | 14 | 50588093 | 50588093 | Human | 1 | name |
| 156249650 | CV2129940 | single nucleotide variant | NM_015915.5(ATL1):c.990+14T>C | Hereditary spastic paraplegia 3A [RCV002959162] | likely benign | 14 | 50620740 | 50620740 | Human | 1 | name |
| 156096163 | CV2163385 | single nucleotide variant | NM_015915.5(ATL1):c.990+19G>C | Hereditary spastic paraplegia 3A [RCV003038399] | likely benign | 14 | 50620745 | 50620745 | Human | 1 | name |
| 156365813 | CV2192257 | single nucleotide variant | NM_015915.5(ATL1):c.863-12T>C | Hereditary spastic paraplegia 3A [RCV003065943] | likely benign | 14 | 50620587 | 50620587 | Human | 1 | name |
| 402467376 | CV2862833 | deletion | NM_015915.5(ATL1):c.283-20del | Hereditary spastic paraplegia 3A [RCV003503528] | likely benign | 14 | 50590921 | 50590921 | Human | 1 | name |
| 405064590 | CV2936679 | single nucleotide variant | NM_015915.5(ATL1):c.631-20C>G | Hereditary spastic paraplegia 3A [RCV003611695] | likely benign | 14 | 50613239 | 50613239 | Human | 1 | name |
| 405062393 | CV3048101 | single nucleotide variant | NM_015915.5(ATL1):c.282+18T>G | Hereditary spastic paraplegia 3A [RCV003611447] | likely benign | 14 | 50588096 | 50588096 | Human | 1 | name |
| 404979171 | CV3127765 | single nucleotide variant | NM_015915.5(ATL1):c.630+15A>T | Hereditary spastic paraplegia 3A [RCV003825797] | likely benign | 14 | 50595647 | 50595647 | Human | 1 | name |
| 405245662 | CV3161899 | single nucleotide variant | NM_015915.5(ATL1):c.1047+4T>C | Hereditary spastic paraplegia 3A [RCV003868612] | uncertain significance | 14 | 50621903 | 50621903 | Human | 1 | name |
| 402467362 | CV3174074 | single nucleotide variant | NM_015915.5(ATL1):c.1048-7T>C | Hereditary spastic paraplegia 3A [RCV003873357] | likely benign | 14 | 50623170 | 50623170 | Human | 1 | name |
| 402515181 | CV3178869 | single nucleotide variant | NM_015915.5(ATL1):c.283-20T>C | Hereditary spastic paraplegia 3A [RCV003879302] | likely benign | 14 | 50590921 | 50590921 | Human | 1 | name |
| 11603630 | CV320667 | single nucleotide variant | NM_015915.5(ATL1):c.523-13T>C | Hereditary spastic paraplegia 3A [RCV000301726] | likely benign|uncertain significance | 14 | 50593833 | 50593833 | Human | 1 | name |
| 405700960 | CV3225915 | single nucleotide variant | NM_015915.5(ATL1):c.1566+1G>C | Hereditary spastic paraplegia 3A [RCV003989354] | uncertain significance | 14 | 50630010 | 50630010 | Human | 1 | name |
| 597841790 | CV3752893 | single nucleotide variant | NM_015915.5(ATL1):c.990+20A>G | Hereditary spastic paraplegia 3A [RCV005086622]|not specified [RCV005407385] | likely benign|uncertain significance | 14 | 50620746 | 50620746 | Human | 1 | name |
| 597969819 | CV3791718 | single nucleotide variant | NM_015915.5(ATL1):c.574-14A>G | Hereditary spastic paraplegia 3A [RCV005141535] | likely benign | 14 | 50595562 | 50595562 | Human | 1 | name |
| 14708360 | CV666576 | single nucleotide variant | NM_015915.5(ATL1):c.990+11C>T | Hereditary spastic paraplegia 3A [RCV002538254]|not provided [RCV000827120] | likely benign | 14 | 50620737 | 50620737 | Human | 1 | name |
| 14716215 | CV667665 | single nucleotide variant | NM_015915.5(ATL1):c.863-54A>G | Hereditary spastic paraplegia 3A [RCV001554129]|not provided [RCV000829653] | benign | 14 | 50620545 | 50620545 | Human | 1 | name |
| 15107096 | CV695621 | single nucleotide variant | NM_015915.5(ATL1):c.1551+9A>G | Hereditary spastic paraplegia 3A [RCV002539963] | likely benign | 14 | 50628471 | 50628471 | Human | 1 | name |
| 15098224 | CV776271 | single nucleotide variant | NM_015915.5(ATL1):c.723+10A>C | Hereditary spastic paraplegia 3A [RCV002068689] | likely benign | 14 | 50613361 | 50613361 | Human | 1 | name |
| 127306017 | CV1144632 | single nucleotide variant | NM_015915.5(ATL1):c.1047+10A>G | Hereditary spastic paraplegia 3A [RCV001479901] | likely benign | 14 | 50621909 | 50621909 | Human | 1 | name |
| 150336561 | CV1165064 | single nucleotide variant | NM_015915.5(ATL1):c.631-166G>A | not provided [RCV001530899] | likely benign | 14 | 50613093 | 50613093 | Human | | name |
| 150422101 | CV1194843 | single nucleotide variant | NM_015915.5(ATL1):c.1567-78A>G | not provided [RCV001570844] | likely benign | 14 | 50632151 | 50632151 | Human | | name |
| 150418631 | CV1198543 | single nucleotide variant | NM_015915.5(ATL1):c.990+287T>C | not provided [RCV001576824] | likely benign | 14 | 50621013 | 50621013 | Human | | name |
| 150461031 | CV1205854 | single nucleotide variant | NM_015915.5(ATL1):c.1120-47A>C | not provided [RCV001586811] | likely benign | 14 | 50627984 | 50627984 | Human | | name |
| 150487572 | CV1208125 | deletion | NM_015915.5(ATL1):c.990+281del | not provided [RCV001591985] | likely benign | 14 | 50621007 | 50621007 | Human | | name |
| 150442332 | CV1266212 | deletion | NM_015915.5(ATL1):c.630+264del | not provided [RCV001690648] | benign | 14 | 50595886 | 50595886 | Human | | name |
| 150473178 | CV1281382 | single nucleotide variant | NM_015915.5(ATL1):c.1048-58G>A | not provided [RCV001713487] | benign | 14 | 50623119 | 50623119 | Human | | name |
| 150473184 | CV1281384 | single nucleotide variant | NM_015915.5(ATL1):c.418-175T>C | not provided [RCV001713488] | benign | 14 | 50591360 | 50591360 | Human | | name |
| 151352659 | CV1321766 | single nucleotide variant | NM_015915.5(ATL1):c.1551+41T>C | not provided [RCV001812616] | likely benign | 14 | 50628503 | 50628503 | Human | | name |
| 151787756 | CV1463801 | single nucleotide variant | NM_015915.5(ATL1):c.1047+20C>T | Hereditary spastic paraplegia 3A [RCV001896807] | uncertain significance | 14 | 50621919 | 50621919 | Human | 1 | name |
| 152076448 | CV1542897 | single nucleotide variant | NM_015915.5(ATL1):c.1567-18T>C | Hereditary spastic paraplegia 3A [RCV002130282] | likely benign | 14 | 50632211 | 50632211 | Human | 1 | name |
| 152047705 | CV1569518 | single nucleotide variant | NM_015915.5(ATL1):c.1047+18G>A | Hereditary spastic paraplegia 3A [RCV002126842] | likely benign | 14 | 50621917 | 50621917 | Human | 1 | name |
| 156403096 | CV1885639 | single nucleotide variant | NM_015915.5(ATL1):c.1120-10T>C | Hereditary spastic paraplegia 3A [RCV003069401] | likely benign | 14 | 50628021 | 50628021 | Human | 1 | name |
| 402470143 | CV2892948 | single nucleotide variant | NM_015915.5(ATL1):c.1566+10A>T | Hereditary spastic paraplegia 3A [RCV003504313] | likely benign | 14 | 50630019 | 50630019 | Human | 1 | name |
| 405131872 | CV2903236 | deletion | NM_015915.5(ATL1):c.1567-12del | Hereditary spastic paraplegia 3A [RCV003502225] | likely benign | 14 | 50632217 | 50632217 | Human | 1 | name |
| 405070302 | CV3058336 | duplication | NM_015915.5(ATL1):c.1566+10dup | Hereditary spastic paraplegia 3A [RCV003612132] | likely benign | 14 | 50630016 | 50630017 | Human | 1 | name |
| 405076262 | CV3079904 | single nucleotide variant | NM_015915.5(ATL1):c.1119+19A>G | Hereditary spastic paraplegia 3A [RCV003612423] | likely benign | 14 | 50623267 | 50623267 | Human | 1 | name |
| 405201111 | CV3143516 | single nucleotide variant | NM_015915.5(ATL1):c.1551+10C>T | Hereditary spastic paraplegia 3A [RCV003844502] | likely benign | 14 | 50628472 | 50628472 | Human | 1 | name |
| 11661247 | CV329486 | single nucleotide variant | NM_015915.5(ATL1):c.1567-14T>C | Hereditary spastic paraplegia 3A [RCV000374246] | uncertain significance | 14 | 50632215 | 50632215 | Human | 1 | name |
| 597850392 | CV3746899 | single nucleotide variant | NM_015915.5(ATL1):c.1567-13G>A | Hereditary spastic paraplegia 3A [RCV005060527] | likely benign | 14 | 50632216 | 50632216 | Human | 1 | name |
| 597922409 | CV3812240 | single nucleotide variant | NM_015915.5(ATL1):c.1048-20A>G | Hereditary spastic paraplegia 3A [RCV005155877] | likely benign | 14 | 50623157 | 50623157 | Human | 1 | name |
| 13541005 | CV505081 | single nucleotide variant | NM_015915.5(ATL1):c.1047+12T>C | Hereditary spastic paraplegia 3A [RCV002528608]|not specified [RCV000615533] | likely benign | 14 | 50621911 | 50621911 | Human | 1 | name |
| 14723796 | CV666570 | single nucleotide variant | NM_015915.5(ATL1):c.522+154G>A | not provided [RCV000832696] | benign | 14 | 50591793 | 50591793 | Human | | name |
| 14734606 | CV666571 | single nucleotide variant | NM_015915.5(ATL1):c.862+220C>T | not provided [RCV000837633] | benign | 14 | 50614731 | 50614731 | Human | | name |
| 14710397 | CV666574 | single nucleotide variant | NM_015915.5(ATL1):c.862+286C>T | not provided [RCV000827690] | benign | 14 | 50614797 | 50614797 | Human | | name |
| 14708500 | CV666583 | single nucleotide variant | NM_015915.5(ATL1):c.1551+11C>G | Hereditary spastic paraplegia 3A [RCV002067436]|not provided [RCV000827167] | likely benign | 14 | 50628473 | 50628473 | Human | 1 | name |
| 14734604 | CV667345 | single nucleotide variant | NM_015915.5(ATL1):c.523-112A>G | not provided [RCV000837632] | benign | 14 | 50593734 | 50593734 | Human | | name |
| 14716207 | CV667348 | single nucleotide variant | NM_015915.5(ATL1):c.574-132G>A | not provided [RCV000829651] | benign | 14 | 50595444 | 50595444 | Human | 5 | name |
| 14716211 | CV667481 | single nucleotide variant | NM_015915.5(ATL1):c.630+105G>A | Neuropathy, hereditary sensory, type 1D [RCV001554128]|not provided [RCV000829652] | benign | 14 | 50595737 | 50595737 | Human | 1 | name |
| 14734631 | CV667486 | single nucleotide variant | NM_015915.5(ATL1):c.990+245G>A | not provided [RCV000837644] | benign | 14 | 50620971 | 50620971 | Human | | name |
| 14729144 | CV667671 | single nucleotide variant | NM_015915.5(ATL1):c.1567-77C>A | not provided [RCV000835092] | benign | 14 | 50632152 | 50632152 | Human | | name |
| 28868312 | CV872367 | single nucleotide variant | NM_015915.5(ATL1):c.1120-15C>T | Hereditary spastic paraplegia 3A [RCV001112391] | conflicting interpretations of pathogenicity|uncertain significance | 14 | 50628016 | 50628016 | Human | 1 | name |
| 150423929 | CV1184891 | duplication | NM_015915.5(ATL1):c.1567-195dup | not provided [RCV001555981] | likely benign | 14 | 50632033 | 50632034 | Human | | name |
| 150503865 | CV1212568 | single nucleotide variant | NM_015915.5(ATL1):c.1551+249T>C | not provided [RCV001595443] | benign | 14 | 50628711 | 50628711 | Human | | name |
| 150511796 | CV1212838 | single nucleotide variant | NM_015915.5(ATL1):c.1119+150A>G | not provided [RCV001598070] | benign | 14 | 50623398 | 50623398 | Human | | name |
| 150507988 | CV1213911 | single nucleotide variant | NM_015915.5(ATL1):c.1551+158T>C | not provided [RCV001596432] | likely benign | 14 | 50628620 | 50628620 | Human | | name |
| 150484089 | CV1280361 | single nucleotide variant | NM_015915.5(ATL1):c.1552-176C>T | not provided [RCV001715304] | benign | 14 | 50629819 | 50629819 | Human | | name |
| 14734634 | CV666578 | single nucleotide variant | NM_015915.5(ATL1):c.1048-168G>T | not provided [RCV000837645] | benign | 14 | 50623009 | 50623009 | Human | | name |
| 14732407 | CV666584 | single nucleotide variant | NM_015915.5(ATL1):c.1551+241A>G | not provided [RCV000836569] | likely benign | 14 | 50628703 | 50628703 | Human | | name |
| 14734638 | CV667349 | single nucleotide variant | NM_015915.5(ATL1):c.1119+149T>G | Hereditary spastic paraplegia 3A [RCV001554131]|not provided [RCV000837647] | benign | 14 | 50623397 | 50623397 | Human | 1 | name |
| 150407768 | CV1182455 | microsatellite | NM_015915.5(ATL1):c.574-57TC[11] | Hereditary spastic paraplegia 3A [RCV001554127]|not provided [RCV001685519] | benign | 14 | 50595519 | 50595520 | Human | | name |
| 401797888 | CV2741061 | single nucleotide variant | NM_015915.5(ATL1):c.1120-1086T>C | not provided [RCV003322225] | uncertain significance | 14 | 50626945 | 50626945 | Human | | name |
| 11650854 | CV329462 | single nucleotide variant | NM_001127713.1(ATL1):c.-139-16C>G | Hereditary spastic paraplegia 3A [RCV000295582] | uncertain significance | 14 | 50560111 | 50560111 | Human | 1 | name |
| 14734599 | CV666568 | single nucleotide variant | NM_001127713.1(ATL1):c.-140+55A>T | not provided [RCV000837630] | benign | 14 | 50533422 | 50533422 | Human | | name |
| 14734602 | CV667341 | single nucleotide variant | NM_001127713.1(ATL1):c.-140+60G>A | not provided [RCV000837631] | benign | 14 | 50533427 | 50533427 | Human | | name |
| 8583826 | CV118391 | single nucleotide variant | NM_001127713.1(ATL1):c.34+10843A>C | Lung cancer [RCV000098911] | uncertain significance | 14 | 50571142 | 50571142 | Human | | name |
| 150462839 | CV1253719 | single nucleotide variant | NM_001127713.1(ATL1):c.-140+108C>T | not provided [RCV001669761] | benign | 14 | 50533475 | 50533475 | Human | | name |
| 156191793 | CV2171256 | microsatellite | NM_015915.5(ATL1):c.631-9_631-7del | Hereditary spastic paraplegia 3A [RCV003024155] | likely benign | 14 | 50613245 | 50613247 | Human | | name |
| 151787801 | CV1477051 | deletion | NM_015915.5(ATL1):c.723+3_723+19del | Hereditary spastic paraplegia 3A [RCV001896995]|Hereditary spastic paraplegia 3A [RCV002478323] | uncertain significance | 14 | 50613350 | 50613366 | Human | 1 | name |
| 155908989 | CV2156781 | single nucleotide variant | NM_015915.5(ATL1):c.22A>C (p.Arg8=) | Hereditary spastic paraplegia 3A [RCV003012113] | likely benign | 14 | 50560287 | 50560287 | Human | 1 | name |
| 127302074 | CV1144627 | single nucleotide variant | NM_015915.5(ATL1):c.60A>G (p.Glu20=) | Hereditary spastic paraplegia 3A [RCV001478858] | likely benign | 14 | 50587856 | 50587856 | Human | 1 | name |
| 156391265 | CV1872809 | deletion | NM_015915.5(ATL1):c.991-12_991-11del | Hereditary spastic paraplegia 3A [RCV003051346] | likely benign | 14 | 50621830 | 50621831 | Human | 1 | name |
| 156137501 | CV2048188 | microsatellite | NM_015915.5(ATL1):c.522+25_522+27del | Hereditary spastic paraplegia 3A [RCV002800834] | likely benign | 14 | 50591659 | 50591661 | Human | | name |
| 402467136 | CV3174016 | single nucleotide variant | NM_015915.5(ATL1):c.54A>G (p.Thr18=) | Hereditary spastic paraplegia 3A [RCV003873299] | likely benign | 14 | 50587850 | 50587850 | Human | 1 | name |
| 8601224 | CV34386 | single nucleotide variant | NM_015915.5(ATL1):c.84A>G (p.Pro28=) | Hereditary spastic paraplegia 3A [RCV000020724]|Hereditary spastic paraplegia [RCV001847618]|Neuropathy, hereditary sensory, type 1D [RCV002259567]|not provided [RCV004715648]|not specified [RCV000116421] | benign|likely benign|conflicting interpretations of pathogenicity | 14 | 50587880 | 50587880 | Human | 3 | name |
| 597972073 | CV3794118 | deletion | NM_015915.5(ATL1):c.417+23_417+27del | Hereditary spastic paraplegia 3A [RCV005142484] | likely benign | 14 | 50591094 | 50591098 | Human | 1 | name |
| 13493591 | CV464156 | single nucleotide variant | NM_015915.5(ATL1):c.30T>C (p.Ser10=) | Hereditary spastic paraplegia 3A [RCV000558302]|Inborn genetic diseases [RCV002324019]|Neuropathy, hereditary sensory, type 1D [RCV002260013]|not specified [RCV001662576] | benign|likely benign | 14 | 50560295 | 50560295 | Human | 3 | name |
| 15134370 | CV684496 | single nucleotide variant | NM_015915.5(ATL1):c.45G>A (p.Ser15=) | Hereditary spastic paraplegia 3A [RCV000864125] | likely benign | 14 | 50587841 | 50587841 | Human | 1 | name |
| 15160442 | CV688303 | single nucleotide variant | NM_015915.5(ATL1):c.90A>G (p.Lys30=) | Hereditary spastic paraplegia 3A [RCV000869014] | benign | 14 | 50587886 | 50587886 | Human | 1 | name |
| 127265001 | CV1102326 | single nucleotide variant | NM_015915.5(ATL1):c.135C>T (p.Ser45=) | Hereditary spastic paraplegia 3A [RCV001439774] | likely benign | 14 | 50587931 | 50587931 | Human | 1 | name |
| 150556153 | CV1296693 | single nucleotide variant | NM_015915.5(ATL1):c.19G>A (p.Asp7Asn) | not provided [RCV001773983] | uncertain significance | 14 | 50560284 | 50560284 | Human | | name |
| 152070599 | CV1628436 | single nucleotide variant | NM_015915.5(ATL1):c.177G>C (p.Ser59=) | Hereditary spastic paraplegia 3A [RCV002169238] | likely benign | 14 | 50587973 | 50587973 | Human | 1 | name |
| 156311592 | CV1899974 | deletion | NM_015915.5(ATL1):c.1120-11_1120-8del | Hereditary spastic paraplegia 3A [RCV003088482] | likely benign | 14 | 50628017 | 50628020 | Human | 1 | name |
| 156180553 | CV2068433 | single nucleotide variant | NM_015915.5(ATL1):c.114C>T (p.Leu38=) | Hereditary spastic paraplegia 3A [RCV002851822] | likely benign | 14 | 50587910 | 50587910 | Human | 1 | name |
| 402470112 | CV2882675 | single nucleotide variant | NM_015915.5(ATL1):c.177G>A (p.Ser59=) | Hereditary spastic paraplegia 3A [RCV003504305]|not specified [RCV005407178] | likely benign | 14 | 50587973 | 50587973 | Human | 1 | name |
| 402469721 | CV2885192 | single nucleotide variant | NM_015915.5(ATL1):c.192C>T (p.Asp64=) | Hereditary spastic paraplegia 3A [RCV003504172] | likely benign | 14 | 50587988 | 50587988 | Human | 1 | name |
| 405065857 | CV2948684 | single nucleotide variant | NM_015915.5(ATL1):c.249G>A (p.Leu83=) | Hereditary spastic paraplegia 3A [RCV003611797] | likely benign | 14 | 50588045 | 50588045 | Human | 1 | name |
| 405071702 | CV3065639 | single nucleotide variant | NM_015915.5(ATL1):c.126T>C (p.Asp42=) | Hereditary spastic paraplegia 3A [RCV003612204] | likely benign | 14 | 50587922 | 50587922 | Human | 1 | name |
| 405072256 | CV3066351 | single nucleotide variant | NM_015915.5(ATL1):c.111C>A (p.Val37=) | Hereditary spastic paraplegia 3A [RCV003612242] | likely benign | 14 | 50587907 | 50587907 | Human | 1 | name |
| 405199763 | CV3128853 | single nucleotide variant | NM_015915.5(ATL1):c.26A>G (p.Asn9Ser) | Hereditary spastic paraplegia 3A [RCV003821896] | uncertain significance | 14 | 50560291 | 50560291 | Human | 1 | name |
| 405691581 | CV3227512 | insertion | NM_015915.5(ATL1):c.991-12_991-11insA | Hereditary spastic paraplegia 3A [RCV003991857] | uncertain significance | 14 | 50621831 | 50621832 | Human | 1 | name |
| 597836005 | CV3757603 | single nucleotide variant | NM_015915.5(ATL1):c.210A>G (p.Val70=) | Hereditary spastic paraplegia 3A [RCV005085617] | likely benign | 14 | 50588006 | 50588006 | Human | 1 | name |
| 597942484 | CV3757808 | single nucleotide variant | NM_015915.5(ATL1):c.11A>G (p.Asn4Ser) | Hereditary spastic paraplegia 3A [RCV005077807] | uncertain significance | 14 | 50560276 | 50560276 | Human | 1 | name |
| 597915819 | CV3860916 | single nucleotide variant | NM_015915.5(ATL1):c.282G>A (p.Gln94=) | Hereditary spastic paraplegia 3A [RCV005204279] | uncertain significance | 14 | 50588078 | 50588078 | Human | 1 | name |
| 13620977 | CV528546 | single nucleotide variant | NM_015915.5(ATL1):c.27C>G (p.Asn9Lys) | Hereditary spastic paraplegia 3A [RCV000647933]|Inborn genetic diseases [RCV002440339]|not provided [RCV005231230] | likely benign|uncertain significance | 14 | 50560292 | 50560292 | Human | 2 | name |
| 127244936 | CV1080534 | single nucleotide variant | NM_015915.5(ATL1):c.318A>T (p.Pro106=) | Hereditary spastic paraplegia 3A [RCV001393791] | likely benign | 14 | 50590976 | 50590976 | Human | 1 | name |
| 127319078 | CV1144628 | single nucleotide variant | NM_015915.5(ATL1):c.570C>A (p.Leu190=) | Hereditary spastic paraplegia 3A [RCV001503916] | likely benign | 14 | 50593893 | 50593893 | Human | 1 | name |
| 127306181 | CV1144630 | single nucleotide variant | NM_015915.5(ATL1):c.654C>T (p.Asp218=) | Hereditary spastic paraplegia 3A [RCV001479960] | likely benign | 14 | 50613282 | 50613282 | Human | 1 | name |
| 127319289 | CV1144631 | single nucleotide variant | NM_015915.5(ATL1):c.735C>T (p.Asn245=) | Hereditary spastic paraplegia 3A [RCV001503977] | likely benign | 14 | 50614384 | 50614384 | Human | 1 | name |
| 150419440 | CV1198542 | deletion | NM_015915.5(ATL1):c.723+273_723+277del | not provided [RCV001577182] | likely benign | 14 | 50613624 | 50613628 | Human | | name |
| 150446837 | CV1201785 | deletion | NM_015915.5(ATL1):c.1566+49_1566+51del | not provided [RCV001584653] | likely benign | 14 | 50630056 | 50630058 | Human | | name |
| 150469994 | CV1268189 | deletion | NM_015915.5(ATL1):c.1552-24_1552-20del | Hereditary spastic paraplegia 3A [RCV002260340]|Neuropathy, hereditary sensory, type 1D [RCV002260341]|not provided [RCV001695053] | benign | 14 | 50629967 | 50629971 | Human | 2 | name |
| 150536317 | CV1309565 | single nucleotide variant | NM_015915.5(ATL1):c.38G>A (p.Gly13Glu) | not provided [RCV003238611] | uncertain significance | 14 | 50587834 | 50587834 | Human | | name |
| 151805742 | CV1467766 | single nucleotide variant | NM_015915.5(ATL1):c.44C>T (p.Ser15Leu) | Hereditary spastic paraplegia 3A [RCV001931650]|Inborn genetic diseases [RCV003365579] | likely benign|uncertain significance | 14 | 50587840 | 50587840 | Human | 2 | name |
| 151807663 | CV1480345 | single nucleotide variant | NM_015915.5(ATL1):c.38G>C (p.Gly13Ala) | Hereditary spastic paraplegia 3A [RCV001935161] | uncertain significance | 14 | 50587834 | 50587834 | Human | 1 | name |
| 151807925 | CV1487412 | single nucleotide variant | NM_015915.5(ATL1):c.33G>C (p.Trp11Cys) | Hereditary spastic paraplegia 3A [RCV001935822]|Inborn genetic diseases [RCV002458798] | uncertain significance | 14 | 50560298 | 50560298 | Human | 2 | name |
| 151832061 | CV1508270 | single nucleotide variant | NM_015915.5(ATL1):c.86T>C (p.Val29Ala) | Hereditary spastic paraplegia 3A [RCV001986234] | uncertain significance | 14 | 50587882 | 50587882 | Human | 1 | name |
| 152075552 | CV1523370 | single nucleotide variant | NM_015915.5(ATL1):c.873T>C (p.Asp291=) | Hereditary spastic paraplegia 3A [RCV002169864] | likely benign | 14 | 50620609 | 50620609 | Human | 1 | name |
| 152044898 | CV1588676 | single nucleotide variant | NM_015915.5(ATL1):c.426G>A (p.Val142=) | Hereditary spastic paraplegia 3A [RCV002188720] | likely benign | 14 | 50591543 | 50591543 | Human | 1 | name |
| 152049927 | CV1602663 | single nucleotide variant | NM_015915.5(ATL1):c.927C>T (p.Ser309=) | Hereditary spastic paraplegia 3A [RCV002127115] | likely benign | 14 | 50620663 | 50620663 | Human | 1 | name |
| 152103815 | CV1645360 | single nucleotide variant | NM_015915.5(ATL1):c.699C>T (p.Ala233=) | Hereditary spastic paraplegia 3A [RCV002133597] | likely benign | 14 | 50613327 | 50613327 | Human | 1 | name |
| 155699095 | CV1813344 | single nucleotide variant | NM_015915.5(ATL1):c.75G>C (p.Glu25Asp) | Inborn genetic diseases [RCV002394243] | uncertain significance | 14 | 50587871 | 50587871 | Human | 1 | name |
| 156055802 | CV1892046 | single nucleotide variant | NM_015915.5(ATL1):c.70G>C (p.Glu24Gln) | Hereditary spastic paraplegia 3A [RCV003079042]|Inborn genetic diseases [RCV003079043] | likely benign|uncertain significance | 14 | 50587866 | 50587866 | Human | 2 | name |
| 156411843 | CV1972762 | single nucleotide variant | NM_015915.5(ATL1):c.35G>A (p.Gly12Asp) | Hereditary spastic paraplegia 3A [RCV002587623] | uncertain significance | 14 | 50587831 | 50587831 | Human | 1 | name |
| 156215629 | CV2070641 | single nucleotide variant | NM_015915.5(ATL1):c.55T>A (p.Tyr19Asn) | Hereditary spastic paraplegia 3A [RCV002829483] | uncertain significance | 14 | 50587851 | 50587851 | Human | 1 | name |
| 10408112 | CV213112 | single nucleotide variant | NM_015915.5(ATL1):c.300T>G (p.Val100=) | Hereditary spastic paraplegia 3A [RCV000199958]|Inborn genetic diseases [RCV002433889] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50590958 | 50590958 | Human | 2 | name |
| 156120738 | CV2183290 | single nucleotide variant | NM_015915.5(ATL1):c.576T>G (p.Leu192=) | Hereditary spastic paraplegia 3A [RCV003039304] | likely benign | 14 | 50595578 | 50595578 | Human | 1 | name |
| 401902006 | CV2810413 | single nucleotide variant | NM_015915.5(ATL1):c.486A>G (p.Thr162=) | not provided [RCV003393424] | likely benign | 14 | 50591603 | 50591603 | Human | | name |
| 402470128 | CV2892814 | single nucleotide variant | NM_015915.5(ATL1):c.582T>G (p.Thr194=) | Hereditary spastic paraplegia 3A [RCV003504309] | likely benign | 14 | 50595584 | 50595584 | Human | 1 | name |
| 402470322 | CV2893352 | single nucleotide variant | NM_015915.5(ATL1):c.450C>A (p.Thr150=) | Hereditary spastic paraplegia 3A [RCV003504362] | likely benign | 14 | 50591567 | 50591567 | Human | 1 | name |
| 402465673 | CV2920235 | single nucleotide variant | NM_015915.5(ATL1):c.531C>T (p.Asn177=) | Hereditary spastic paraplegia 3A [RCV003503070] | likely benign | 14 | 50593854 | 50593854 | Human | 1 | name |
| 402469003 | CV2927152 | single nucleotide variant | NM_015915.5(ATL1):c.48A>C (p.Glu16Asp) | Hereditary spastic paraplegia 3A [RCV003503977] | uncertain significance | 14 | 50587844 | 50587844 | Human | 1 | name |
| 405064855 | CV2940381 | single nucleotide variant | NM_015915.5(ATL1):c.552G>A (p.Glu184=) | Hereditary spastic paraplegia 3A [RCV003611715] | likely benign | 14 | 50593875 | 50593875 | Human | 1 | name |
| 405086316 | CV3016445 | single nucleotide variant | NM_015915.5(ATL1):c.634C>T (p.Leu212=) | Hereditary spastic paraplegia 3A [RCV003613360] | likely benign | 14 | 50613262 | 50613262 | Human | 1 | name |
| 405073133 | CV3075736 | single nucleotide variant | NM_015915.5(ATL1):c.348T>C (p.Ser116=) | Hereditary spastic paraplegia 3A [RCV003612306] | likely benign | 14 | 50591006 | 50591006 | Human | 1 | name |
| 405207852 | CV3145614 | single nucleotide variant | NM_015915.5(ATL1):c.996T>C (p.Tyr332=) | Hereditary spastic paraplegia 3A [RCV003845344] | likely benign | 14 | 50621848 | 50621848 | Human | 1 | name |
| 405231905 | CV3157436 | single nucleotide variant | NM_015915.5(ATL1):c.444G>A (p.Gln148=) | Hereditary spastic paraplegia 3A [RCV003865386] | likely benign | 14 | 50591561 | 50591561 | Human | 1 | name |
| 11609482 | CV320668 | single nucleotide variant | NM_015915.5(ATL1):c.705C>T (p.Phe235=) | Hereditary spastic paraplegia 3A [RCV000462387]|Hereditary spastic paraplegia [RCV001848112]|Neuropathy, hereditary sensory, type 1D [RCV002259849]|not provided [RCV001812807]|not specified [RCV000428403] | benign|likely benign | 14 | 50613333 | 50613333 | Human | 3 | name |
| 11614071 | CV329479 | single nucleotide variant | NM_015915.5(ATL1):c.756C>T (p.Asn252=) | Hereditary spastic paraplegia 3A [RCV000871475]|Inborn genetic diseases [RCV002392857]|not specified [RCV004999300] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50614405 | 50614405 | Human | 2 | name |
| 11620201 | CV329480 | single nucleotide variant | NM_015915.5(ATL1):c.969G>C (p.Arg323=) | Hereditary spastic paraplegia 3A [RCV001435351]|Inborn genetic diseases [RCV002374532]|Spastic paraplegia, autosomal dominant [RCV000333856] | likely benign|uncertain significance | 14 | 50620705 | 50620705 | Human | 3 | name |
| 11620431 | CV336024 | single nucleotide variant | NM_015915.5(ATL1):c.408T>C (p.Asp136=) | ATL1-related disorder [RCV003940214]|Hereditary spastic paraplegia 3A [RCV000551365]|Hereditary spastic paraplegia 3A [RCV002502228]|Hereditary spastic paraplegia [RCV001848109]|Neuropathy, hereditary sensory, type 1D [RCV002259845] | benign|likely benign | 14 | 50591066 | 50591066 | Human | 3 | name , trait , alternate_id |
| 11613950 | CV336046 | single nucleotide variant | NM_015915.5(ATL1):c.669C>T (p.Tyr223=) | ATL1-related disorder [RCV003910175]|Hereditary spastic paraplegia 3A [RCV000471358]|Hereditary spastic paraplegia [RCV001848111]|Inborn genetic diseases [RCV002365365]|Neuropathy, hereditary sensory, type 1D [RCV002259847]|not provided [RCV001531188]|not specif ied [RCV000427052] | benign|likely benign|conflicting interpretations of pathogenicity | 14 | 50613297 | 50613297 | Human | 4 | name , trait , alternate_id |
| 11617952 | CV337982 | single nucleotide variant | NM_015915.5(ATL1):c.693T>C (p.Gly231=) | ATL1-related disorder [RCV003910176]|Hereditary spastic paraplegia 3A [RCV001083267]|Inborn genetic diseases [RCV002365366]|Neuropathy, hereditary sensory, type 1D [RCV002259848]|not provided [RCV000713456]|not specified [RCV000419034] | benign|likely benign | 14 | 50613321 | 50613321 | Human | 3 | name , trait , alternate_id |
| 8601220 | CV34382 | single nucleotide variant | NM_015915.5(ATL1):c.351G>A (p.Glu117=) | Hereditary spastic paraplegia 3A [RCV000020720]|Hereditary spastic paraplegia 3A [RCV002496429]|Hereditary spastic paraplegia [RCV001847616]|Neuropathy, hereditary sensory, type 1D [RCV001553934]|not provided [RCV000860187]|not specified [RCV000116420] | benign|likely benign | 14 | 50591009 | 50591009 | Human | 3 | name |
| 8601223 | CV34385 | single nucleotide variant | NM_015915.5(ATL1):c.621G>A (p.Lys207=) | Hereditary spastic paraplegia 3A [RCV000020723]|Hereditary spastic paraplegia [RCV001847617]|Inborn genetic diseases [RCV002362591]|Neuropathy, hereditary sensory, type 1D [RCV002259566]|not provided [RCV004704813]|not specified [RCV000430134] | benign|likely benign | 14 | 50595623 | 50595623 | Human | 4 | name |
| 12833659 | CV374244 | single nucleotide variant | NM_015915.5(ATL1):c.687C>T (p.Ala229=) | Inborn genetic diseases [RCV002365464]|not provided [RCV001712180] | likely benign | 14 | 50613315 | 50613315 | Human | 1 | name |
| 597853983 | CV3762403 | single nucleotide variant | NM_015915.5(ATL1):c.55T>C (p.Tyr19His) | not specified [RCV005088319] | uncertain significance | 14 | 50587851 | 50587851 | Human | | name |
| 597956133 | CV3787280 | single nucleotide variant | NM_015915.5(ATL1):c.354A>G (p.Arg118=) | Hereditary spastic paraplegia 3A [RCV005122165] | likely benign | 14 | 50591012 | 50591012 | Human | 1 | name |
| 597904361 | CV3846034 | single nucleotide variant | NM_015915.5(ATL1):c.633T>C (p.Ser211=) | Hereditary spastic paraplegia 3A [RCV005181656]|not provided [RCV005426430] | likely benign | 14 | 50613261 | 50613261 | Human | 1 | name |
| 13532064 | CV505073 | single nucleotide variant | NM_015915.5(ATL1):c.780T>C (p.Cys260=) | Inborn genetic diseases [RCV002413736]|not specified [RCV000606680] | likely benign | 14 | 50614429 | 50614429 | Human | 1 | name |
| 13620974 | CV528201 | single nucleotide variant | NM_015915.5(ATL1):c.46G>C (p.Glu16Gln) | Hereditary spastic paraplegia 3A [RCV000647930]|not provided [RCV005231229] | uncertain significance | 14 | 50587842 | 50587842 | Human | 1 | name |
| 13620984 | CV528567 | single nucleotide variant | NM_015915.5(ATL1):c.570C>G (p.Leu190=) | Hereditary spastic paraplegia 3A [RCV000647938]|Hereditary spastic paraplegia [RCV001849026]|Neuropathy, hereditary sensory, type 1D [RCV002260038] | benign|likely benign | 14 | 50593893 | 50593893 | Human | 3 | name |
| 15119717 | CV693510 | single nucleotide variant | NM_015915.5(ATL1):c.879C>T (p.Phe293=) | Hereditary spastic paraplegia 3A [RCV001439856] | likely benign | 14 | 50620615 | 50620615 | Human | 1 | name |
| 15194803 | CV725678 | single nucleotide variant | NM_015915.5(ATL1):c.483C>T (p.Ala161=) | Hereditary spastic paraplegia 3A [RCV001482328] | likely benign | 14 | 50591600 | 50591600 | Human | 1 | name |
| 38460103 | CV936632 | single nucleotide variant | NM_015915.5(ATL1):c.61T>C (p.Trp21Arg) | Hereditary spastic paraplegia 3A [RCV001211767] | uncertain significance | 14 | 50587857 | 50587857 | Human | 1 | name |
| 41406415 | CV982887 | single nucleotide variant | NM_015915.5(ATL1):c.921C>T (p.Pro307=) | Hereditary spastic paraplegia 3A [RCV001483701]|Neuropathy, hereditary sensory, type 1D [RCV002260150]|not specified [RCV001288452] | benign|likely benign | 14 | 50620657 | 50620657 | Human | 2 | name |
| 126763704 | CV1031623 | single nucleotide variant | NM_015915.5(ATL1):c.196G>A (p.Glu66Lys) | Hereditary spastic paraplegia 3A [RCV001341383] | uncertain significance | 14 | 50587992 | 50587992 | Human | 1 | name |
| 126924368 | CV1048569 | single nucleotide variant | NM_015915.5(ATL1):c.125A>T (p.Asp42Val) | Hereditary spastic paraplegia 3A [RCV001366952] | uncertain significance | 14 | 50587921 | 50587921 | Human | 1 | name |
| 126922183 | CV1048570 | single nucleotide variant | NM_015915.5(ATL1):c.206C>T (p.Ala69Val) | Hereditary spastic paraplegia 3A [RCV001364369] | uncertain significance | 14 | 50588002 | 50588002 | Human | 1 | name |
| 127243279 | CV1080533 | single nucleotide variant | NM_015915.5(ATL1):c.200T>C (p.Val67Ala) | Hereditary spastic paraplegia 3A [RCV001398337] | likely benign | 14 | 50587996 | 50587996 | Human | 1 | name |
| 127230608 | CV1080535 | single nucleotide variant | NM_015915.5(ATL1):c.1332A>G (p.Ala444=) | Hereditary spastic paraplegia 3A [RCV001412552] | likely benign | 14 | 50628243 | 50628243 | Human | 1 | name |
| 127253680 | CV1080536 | single nucleotide variant | NM_015915.5(ATL1):c.1434T>C (p.Asn478=) | Hereditary spastic paraplegia 3A [RCV001400616] | likely benign | 14 | 50628345 | 50628345 | Human | 1 | name |
| 127241042 | CV1080537 | single nucleotide variant | NM_015915.5(ATL1):c.1452C>T (p.Thr484=) | Hereditary spastic paraplegia 3A [RCV001393042] | likely benign | 14 | 50628363 | 50628363 | Human | 1 | name |
| 127235470 | CV1102328 | single nucleotide variant | NM_015915.5(ATL1):c.1542G>A (p.Leu514=) | ATL1-related disorder [RCV003930921]|Hereditary spastic paraplegia 3A [RCV001433108] | likely benign | 14 | 50628453 | 50628453 | Human | 1 | name , trait , alternate_id |
| 127322922 | CV1144633 | single nucleotide variant | NM_015915.5(ATL1):c.1137A>G (p.Lys379=) | Hereditary spastic paraplegia 3A [RCV001485091] | likely benign | 14 | 50628048 | 50628048 | Human | 1 | name |
| 127313409 | CV1144634 | single nucleotide variant | NM_015915.5(ATL1):c.1158C>T (p.Asp386=) | Hereditary spastic paraplegia 3A [RCV001502153] | likely benign | 14 | 50628069 | 50628069 | Human | 1 | name |
| 127314973 | CV1157265 | single nucleotide variant | NM_015915.5(ATL1):c.1329T>C (p.His443=) | Hereditary spastic paraplegia 3A [RCV001519822] | benign | 14 | 50628240 | 50628240 | Human | 1 | name |
| 127322161 | CV1157266 | single nucleotide variant | NM_015915.5(ATL1):c.1458C>T (p.Ile486=) | Hereditary spastic paraplegia 3A [RCV001523392] | benign | 14 | 50628369 | 50628369 | Human | 1 | name |
| 150516465 | CV1287371 | single nucleotide variant | NM_015915.5(ATL1):c.1332A>C (p.Ala444=) | Hereditary spastic paraplegia 3A [RCV002538671]|not provided [RCV001723350] | likely benign | 14 | 50628243 | 50628243 | Human | 1 | name |
| 150551707 | CV1295192 | single nucleotide variant | NM_015915.5(ATL1):c.209T>A (p.Val70Glu) | not provided [RCV001754485] | uncertain significance | 14 | 50588005 | 50588005 | Human | | name |
| 150556711 | CV1305638 | deletion | NM_015915.5(ATL1):c.535del (p.Ser179fs) | not provided [RCV001774628] | uncertain significance | 14 | 50593858 | 50593858 | Human | | name |
| 151832395 | CV1349929 | single nucleotide variant | NM_015915.5(ATL1):c.254A>G (p.Asp85Gly) | Hereditary spastic paraplegia 3A [RCV001987055] | uncertain significance | 14 | 50588050 | 50588050 | Human | 1 | name |
| 151709346 | CV1351431 | single nucleotide variant | NM_015915.5(ATL1):c.1650T>A (p.Thr550=) | Hereditary spastic paraplegia 3A [RCV001992996] | likely benign|uncertain significance | 14 | 50632312 | 50632312 | Human | 1 | name |
| 151815059 | CV1358689 | single nucleotide variant | NM_015915.5(ATL1):c.178G>C (p.Glu60Gln) | Hereditary spastic paraplegia 3A [RCV001950632] | uncertain significance | 14 | 50587974 | 50587974 | Human | 1 | name |
| 151790982 | CV1367450 | single nucleotide variant | NM_015915.5(ATL1):c.282G>C (p.Gln94His) | Hereditary spastic paraplegia 3A [RCV001903958] | uncertain significance | 14 | 50588078 | 50588078 | Human | 1 | name |
| 151718149 | CV1382129 | single nucleotide variant | NM_015915.5(ATL1):c.115A>G (p.Ile39Val) | Hereditary spastic paraplegia 3A [RCV002028584] | uncertain significance | 14 | 50587911 | 50587911 | Human | 1 | name |
| 151793567 | CV1399408 | single nucleotide variant | NM_015915.5(ATL1):c.1074A>C (p.Ala358=) | Hereditary spastic paraplegia 3A [RCV001908624] | likely benign | 14 | 50623203 | 50623203 | Human | 1 | name |
| 151722715 | CV1508691 | single nucleotide variant | NM_015915.5(ATL1):c.133T>G (p.Ser45Ala) | Hereditary spastic paraplegia 3A [RCV002043441] | uncertain significance | 14 | 50587929 | 50587929 | Human | 1 | name |
| 152170403 | CV1567594 | single nucleotide variant | NM_015915.5(ATL1):c.1377T>C (p.Tyr459=) | Hereditary spastic paraplegia 3A [RCV002183138] | likely benign | 14 | 50628288 | 50628288 | Human | 1 | name |
| 152171726 | CV1575593 | single nucleotide variant | NM_015915.5(ATL1):c.1341C>T (p.Thr447=) | Hereditary spastic paraplegia 3A [RCV002183597] | likely benign | 14 | 50628252 | 50628252 | Human | 1 | name |
| 152036703 | CV1609889 | single nucleotide variant | NM_015915.5(ATL1):c.1296T>C (p.Tyr432=) | Hereditary spastic paraplegia 3A [RCV002165065] | likely benign | 14 | 50628207 | 50628207 | Human | 1 | name |
| 152045557 | CV1614228 | single nucleotide variant | NM_015915.5(ATL1):c.1428A>G (p.Leu476=) | Hereditary spastic paraplegia 3A [RCV002166235] | likely benign | 14 | 50628339 | 50628339 | Human | 1 | name |
| 152083868 | CV1645563 | single nucleotide variant | NM_015915.5(ATL1):c.1245G>A (p.Arg415=) | Hereditary spastic paraplegia 3A [RCV002170900] | likely benign | 14 | 50628156 | 50628156 | Human | 1 | name |
| 155671371 | CV1829225 | single nucleotide variant | NM_015915.5(ATL1):c.132T>A (p.His44Gln) | Inborn genetic diseases [RCV002385903] | uncertain significance | 14 | 50587928 | 50587928 | Human | 1 | name |
| 156381492 | CV1889868 | single nucleotide variant | NM_015915.5(ATL1):c.1311T>C (p.Asp437=) | Hereditary spastic paraplegia 3A [RCV003093311] | likely benign | 14 | 50628222 | 50628222 | Human | 1 | name |
| 156221894 | CV1899849 | single nucleotide variant | NM_015915.5(ATL1):c.1201C>T (p.Leu401=) | Hereditary spastic paraplegia 3A [RCV003085030] | likely benign | 14 | 50628112 | 50628112 | Human | 1 | name |
| 156184574 | CV1908725 | single nucleotide variant | NM_015915.5(ATL1):c.1347C>T (p.Ala449=) | Hereditary spastic paraplegia 3A [RCV002595172] | likely benign | 14 | 50628258 | 50628258 | Human | 1 | name |
| 10050002 | CV191260 | single nucleotide variant | NM_015915.5(ATL1):c.1200G>A (p.Lys400=) | Hereditary spastic paraplegia 3A [RCV001081632]|Inborn genetic diseases [RCV002345600]|not provided [RCV000724714] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50628111 | 50628111 | Human | 2 | name |
| 156437688 | CV1947699 | single nucleotide variant | NM_015915.5(ATL1):c.1374A>G (p.Thr458=) | Hereditary spastic paraplegia 3A [RCV003107228] | likely benign | 14 | 50628285 | 50628285 | Human | 1 | name |
| 156009919 | CV1989662 | single nucleotide variant | NM_015915.5(ATL1):c.182C>T (p.Ala61Val) | Hereditary spastic paraplegia 3A [RCV002636166]|Inborn genetic diseases [RCV005281206] | uncertain significance | 14 | 50587978 | 50587978 | Human | 2 | name |
| 156398140 | CV1990817 | single nucleotide variant | NM_015915.5(ATL1):c.1077C>T (p.Ala359=) | Hereditary spastic paraplegia 3A [RCV002605340] | likely benign | 14 | 50623206 | 50623206 | Human | 1 | name |
| 156047194 | CV1996643 | single nucleotide variant | NM_015915.5(ATL1):c.268T>C (p.Tyr90His) | Hereditary spastic paraplegia 3A [RCV002659245]|not provided [RCV003151902] | uncertain significance | 14 | 50588064 | 50588064 | Human | 1 | name |
| 155984628 | CV2070305 | single nucleotide variant | NM_015915.5(ATL1):c.271A>C (p.Met91Leu) | Hereditary spastic paraplegia 3A [RCV002842683] | uncertain significance | 14 | 50588067 | 50588067 | Human | 1 | name |
| 156043331 | CV2089759 | single nucleotide variant | NM_015915.5(ATL1):c.1002G>A (p.Lys334=) | Hereditary spastic paraplegia 3A [RCV002867529] | likely benign | 14 | 50621854 | 50621854 | Human | 1 | name |
| 156229152 | CV2093720 | single nucleotide variant | NM_015915.5(ATL1):c.1512A>G (p.Gly504=) | Hereditary spastic paraplegia 3A [RCV002894486] | likely benign | 14 | 50628423 | 50628423 | Human | 1 | name |
| 156155828 | CV2121973 | single nucleotide variant | NM_015915.5(ATL1):c.261G>A (p.Met87Ile) | Hereditary spastic paraplegia 3A [RCV002929060]|Inborn genetic diseases [RCV003274099] | uncertain significance | 14 | 50588057 | 50588057 | Human | 2 | name |
| 10408067 | CV213113 | single nucleotide variant | NM_015915.5(ATL1):c.1641G>A (p.Ser547=) | Hereditary spastic paraplegia 3A [RCV001475871]|Inborn genetic diseases [RCV002390529] | pathogenic|likely pathogenic|likely benign | 14 | 50632303 | 50632303 | Human | 2 | name |
| 156082871 | CV2169127 | single nucleotide variant | NM_015915.5(ATL1):c.1392G>C (p.Val464=) | Hereditary spastic paraplegia 3A [RCV003037944] | likely benign | 14 | 50628303 | 50628303 | Human | 1 | name |
| 156148109 | CV2188522 | single nucleotide variant | NM_015915.5(ATL1):c.179A>C (p.Glu60Ala) | Hereditary spastic paraplegia 3A [RCV003056433] | uncertain significance | 14 | 50587975 | 50587975 | Human | 1 | name |
| 11348534 | CV241848 | single nucleotide variant | NM_015915.5(ATL1):c.1230G>A (p.Gly410=) | Hereditary spastic paraplegia 3A [RCV000227026]|Hereditary spastic paraplegia 3A [RCV002494654]|Hereditary spastic paraplegia [RCV001847999]|Inborn genetic diseases [RCV002365211]|Neuropathy, hereditary sensory, type 1D [RCV002259738]|not provided [RCV001812648]|not specified [RCV000613364] | benign|likely benign | 14 | 50628141 | 50628141 | Human | 4 | name |
| 329395306 | CV2473083 | single nucleotide variant | NM_015915.5(ATL1):c.208G>T (p.Val70Leu) | not provided [RCV003219067] | uncertain significance | 14 | 50588004 | 50588004 | Human | | name |
| 401780003 | CV2725818 | single nucleotide variant | NM_015915.5(ATL1):c.147T>G (p.Asp49Glu) | Inborn genetic diseases [RCV003287791] | uncertain significance | 14 | 50587943 | 50587943 | Human | 1 | name |
| 401909132 | CV2803838 | single nucleotide variant | NM_015915.5(ATL1):c.218C>T (p.Ala73Val) | ATL1-related disorder [RCV003397779] | uncertain significance | 14 | 50588014 | 50588014 | Human | | name , trait , alternate_id |
| 401902008 | CV2810415 | single nucleotide variant | NM_015915.5(ATL1):c.1212G>A (p.Gly404=) | not provided [RCV003393426] | likely benign | 14 | 50628123 | 50628123 | Human | | name |
| 405075790 | CV2952914 | single nucleotide variant | NM_015915.5(ATL1):c.1485G>C (p.Arg495=) | Hereditary spastic paraplegia 3A [RCV003612510] | likely benign | 14 | 50628396 | 50628396 | Human | 1 | name |
| 405058505 | CV3031525 | single nucleotide variant | NM_015915.5(ATL1):c.1203A>T (p.Leu401=) | Hereditary spastic paraplegia 3A [RCV003611148] | likely benign | 14 | 50628114 | 50628114 | Human | 1 | name |
| 405071320 | CV3065474 | single nucleotide variant | NM_015915.5(ATL1):c.1035A>G (p.Lys345=) | Hereditary spastic paraplegia 3A [RCV003612177] | likely benign | 14 | 50621887 | 50621887 | Human | 1 | name |
| 404978844 | CV3127683 | single nucleotide variant | NM_015915.5(ATL1):c.1449G>C (p.Leu483=) | Hereditary spastic paraplegia 3A [RCV003825715] | likely benign | 14 | 50628360 | 50628360 | Human | 1 | name |
| 405181183 | CV3147537 | single nucleotide variant | NM_015915.5(ATL1):c.271A>G (p.Met91Val) | Hereditary spastic paraplegia 3A [RCV003842439] | uncertain significance | 14 | 50588067 | 50588067 | Human | 1 | name |
| 402470425 | CV3171143 | single nucleotide variant | NM_015915.5(ATL1):c.1197G>C (p.Val399=) | Hereditary spastic paraplegia 3A [RCV003874106] | likely benign | 14 | 50628108 | 50628108 | Human | 1 | name |
| 402495206 | CV3183069 | single nucleotide variant | NM_015915.5(ATL1):c.1611G>C (p.Leu537=) | Hereditary spastic paraplegia 3A [RCV003877377] | likely benign | 14 | 50632273 | 50632273 | Human | 1 | name |
| 11601685 | CV320669 | single nucleotide variant | NM_015915.5(ATL1):c.1623T>G (p.Ala541=) | Hereditary spastic paraplegia 3A [RCV000875223]|Inborn genetic diseases [RCV002402025] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50632285 | 50632285 | Human | 2 | name |
| 11612478 | CV337983 | single nucleotide variant | NM_015915.5(ATL1):c.1152A>G (p.Pro384=) | Hereditary spastic paraplegia 3A [RCV000865579]|Inborn genetic diseases [RCV002348051]|not specified [RCV000608836] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50628063 | 50628063 | Human | 2 | name |
| 11618957 | CV337987 | single nucleotide variant | NM_015915.5(ATL1):c.1173C>T (p.His391=) | Hereditary spastic paraplegia 3A [RCV001086937]|Inborn genetic diseases [RCV002328826]|not provided [RCV000487834]|not specified [RCV000518429] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50628084 | 50628084 | Human | 2 | name |
| 8601219 | CV34381 | single nucleotide variant | NM_015915.5(ATL1):c.129C>G (p.Asp43Glu) | Hereditary spastic paraplegia 3A [RCV000020719] | benign|not provided | 14 | 50587925 | 50587925 | Human | 1 | name |
| 597656305 | CV3731562 | single nucleotide variant | NM_015915.5(ATL1):c.273G>A (p.Met91Ile) | not provided [RCV005001743] | uncertain significance | 14 | 50588069 | 50588069 | Human | | name |
| 597847463 | CV3746358 | single nucleotide variant | NM_015915.5(ATL1):c.109G>C (p.Val37Leu) | Hereditary spastic paraplegia 3A [RCV005060176] | uncertain significance | 14 | 50587905 | 50587905 | Human | 1 | name |
| 597871793 | CV3768399 | deletion | NM_015915.5(ATL1):c.521del (p.Gln174fs) | Hereditary spastic paraplegia 3A [RCV005122778] | pathogenic | 14 | 50591638 | 50591638 | Human | 1 | name |
| 597972978 | CV3790859 | single nucleotide variant | NM_015915.5(ATL1):c.1392G>A (p.Val464=) | Hereditary spastic paraplegia 3A [RCV005143074] | likely benign | 14 | 50628303 | 50628303 | Human | 1 | name |
| 597948043 | CV3800858 | single nucleotide variant | NM_015915.5(ATL1):c.1341C>G (p.Thr447=) | Hereditary spastic paraplegia 3A [RCV005135258] | likely benign | 14 | 50628252 | 50628252 | Human | 1 | name |
| 597836351 | CV3828416 | single nucleotide variant | NM_015915.5(ATL1):c.1426C>T (p.Leu476=) | Hereditary spastic paraplegia 3A [RCV005171308] | likely benign | 14 | 50628337 | 50628337 | Human | 1 | name |
| 597935806 | CV3845304 | single nucleotide variant | NM_015915.5(ATL1):c.1518A>C (p.Val506=) | Hereditary spastic paraplegia 3A [RCV005186617] | likely benign | 14 | 50628429 | 50628429 | Human | 1 | name |
| 597846186 | CV3880587 | single nucleotide variant | NM_015915.5(ATL1):c.1410G>A (p.Leu470=) | not provided [RCV005227475] | uncertain significance | 14 | 50628321 | 50628321 | Human | | name |
| 598243236 | CV3914878 | single nucleotide variant | NM_015915.5(ATL1):c.205G>T (p.Ala69Ser) | Inborn genetic diseases [RCV005276669] | uncertain significance | 14 | 50588001 | 50588001 | Human | 1 | name |
| 8602260 | CV39537 | single nucleotide variant | NM_015915.5(ATL1):c.196G>C (p.Glu66Gln) | Hereditary spastic paraplegia 3A [RCV000543629]|Inborn genetic diseases [RCV002415427]|Neuropathy, hereditary sensory, type 1D [RCV000023543]|not provided [RCV000236565] | pathogenic|likely benign|uncertain significance | 14 | 50587992 | 50587992 | Human | 3 | name |
| 13490315 | CV464290 | single nucleotide variant | NM_015915.5(ATL1):c.164G>A (p.Arg55Gln) | Hereditary spastic paraplegia 3A [RCV000533437]|Inborn genetic diseases [RCV004024173]|not provided [RCV001755864] | uncertain significance | 14 | 50587960 | 50587960 | Human | 2 | name |
| 13535239 | CV505477 | single nucleotide variant | NM_015915.5(ATL1):c.1676A>G (p.Ter559=) | Hereditary spastic paraplegia 3A [RCV003502540]|not specified [RCV000607630] | likely benign | 14 | 50632338 | 50632338 | Human | 1 | name |
| 13705586 | CV536873 | single nucleotide variant | NM_015915.5(ATL1):c.127G>A (p.Asp43Asn) | not provided [RCV000658147] | uncertain significance | 14 | 50587923 | 50587923 | Human | | name |
| 13809406 | CV568098 | single nucleotide variant | NM_015915.5(ATL1):c.163C>T (p.Arg55Trp) | Hereditary spastic paraplegia 3A [RCV000702118]|Inborn genetic diseases [RCV004669092]|not provided [RCV003140112] | uncertain significance | 14 | 50587959 | 50587959 | Human | 2 | name |
| 14700069 | CV625307 | deletion | NM_015915.5(ATL1):c.976del (p.Val326fs) | Charcot-Marie-Tooth disease [RCV000789725]|Neuropathy, hereditary sensory, type 1D [RCV000023544] | pathogenic|uncertain significance | 14 | 50620711 | 50620711 | Human | 2 | name |
| 14730256 | CV642484 | single nucleotide variant | NM_015915.5(ATL1):c.176C>T (p.Ser59Leu) | Hereditary spastic paraplegia 3A [RCV000800876]|Inborn genetic diseases [RCV002397615] | uncertain significance | 14 | 50587972 | 50587972 | Human | 2 | name |
| 15144401 | CV769817 | single nucleotide variant | NM_015915.5(ATL1):c.1308T>C (p.Asn436=) | Hereditary spastic paraplegia 3A [RCV001492703] | likely benign | 14 | 50628219 | 50628219 | Human | 1 | name |
| 15136414 | CV784725 | single nucleotide variant | NM_015915.5(ATL1):c.1266G>A (p.Glu422=) | Hereditary spastic paraplegia 3A [RCV001481963] | likely benign | 14 | 50628177 | 50628177 | Human | 1 | name |
| 26893079 | CV841541 | single nucleotide variant | NM_015915.5(ATL1):c.293A>G (p.Asp98Gly) | Hereditary spastic paraplegia 3A [RCV001068936] | uncertain significance | 14 | 50590951 | 50590951 | Human | 1 | name |
| 28870818 | CV871913 | single nucleotide variant | NM_015915.5(ATL1):c.1635A>G (p.Pro545=) | Hereditary spastic paraplegia 3A [RCV001113748]|Neuropathy, hereditary sensory, type 1D [RCV002260140] | benign | 14 | 50632297 | 50632297 | Human | 2 | name |
| 8635226 | CV90448 | single nucleotide variant | NM_001127713.1(ATL1):c.87G>A (p.Val29=) | Malignant melanoma [RCV000070546] | not provided | 14 | 50587883 | 50587883 | Human | | name |
| 38459343 | CV919529 | single nucleotide variant | NM_015915.5(ATL1):c.169C>T (p.Leu57Phe) | Neuropathy, hereditary sensory, type 1D [RCV001195765] | uncertain significance | 14 | 50587965 | 50587965 | Human | 1 | name |
| 38492320 | CV927095 | single nucleotide variant | NM_015915.5(ATL1):c.1119G>A (p.Glu373=) | Hereditary spastic paraplegia 3A [RCV001223499] | likely pathogenic | 14 | 50623248 | 50623248 | Human | 1 | name |
| 127233978 | CV977098 | single nucleotide variant | NM_015915.5(ATL1):c.118G>T (p.Val40Phe) | Hereditary spastic paraplegia 3A [RCV001391389] | pathogenic | 14 | 50587914 | 50587914 | Human | 1 | name |
| 126772505 | CV1011125 | single nucleotide variant | NM_015915.5(ATL1):c.298G>T (p.Val100Phe) | Hereditary spastic paraplegia 3A [RCV001323791] | uncertain significance | 14 | 50590956 | 50590956 | Human | 1 | name |
| 126753571 | CV1011126 | single nucleotide variant | NM_015915.5(ATL1):c.716G>A (p.Arg239His) | Hereditary spastic paraplegia 3A [RCV001316506]|Spastic paraplegia [RCV001731196] | likely pathogenic|uncertain significance | 14 | 50613344 | 50613344 | Human | 3 | name |
| 126915490 | CV1048571 | single nucleotide variant | NM_015915.5(ATL1):c.471G>T (p.Leu157Phe) | Hereditary spastic paraplegia 3A [RCV001360017] | likely pathogenic|uncertain significance | 14 | 50591588 | 50591588 | Human | 1 | name |
| 126924328 | CV1048572 | single nucleotide variant | NM_015915.5(ATL1):c.701A>G (p.Lys234Arg) | Hereditary spastic paraplegia 3A [RCV001366908]|Inborn genetic diseases [RCV002368186] | uncertain significance | 14 | 50613329 | 50613329 | Human | 2 | name |
| 127237367 | CV1053977 | single nucleotide variant | NM_015915.5(ATL1):c.740A>G (p.His247Arg) | Hereditary spastic paraplegia 3A [RCV001376177] | likely pathogenic|conflicting interpretations of pathogenicity | 14 | 50614389 | 50614389 | Human | 1 | name |
| 127250670 | CV1063108 | single nucleotide variant | NM_015915.5(ATL1):c.565C>G (p.His189Asp) | Hereditary spastic paraplegia 3A [RCV001385343] | pathogenic | 14 | 50593888 | 50593888 | Human | 1 | name |
| 150334799 | CV1166103 | single nucleotide variant | NM_015915.5(ATL1):c.944T>G (p.Ile315Ser) | not provided [RCV001531189] | likely pathogenic | 14 | 50620680 | 50620680 | Human | | name |
| 150419241 | CV1194842 | single nucleotide variant | NM_015915.5(ATL1):c.766C>G (p.His256Asp) | Hereditary spastic paraplegia 3A [RCV001866014]|not provided [RCV001569594] | likely pathogenic|uncertain significance | 14 | 50614415 | 50614415 | Human | 1 | name |
| 150412136 | CV1196116 | single nucleotide variant | NM_015915.5(ATL1):c.508A>G (p.Ile170Val) | not provided [RCV001573980] | uncertain significance | 14 | 50591625 | 50591625 | Human | | name |
| 150432158 | CV1246196 | single nucleotide variant | NM_015915.5(ATL1):c.754A>T (p.Asn252Tyr) | not provided [RCV001663609] | uncertain significance | 14 | 50614403 | 50614403 | Human | | name |
| 150528682 | CV1288442 | single nucleotide variant | NM_015915.5(ATL1):c.991G>T (p.Ala331Ser) | not provided [RCV001726910] | uncertain significance | 14 | 50621843 | 50621843 | Human | | name |
| 150528104 | CV1301628 | single nucleotide variant | NM_015915.5(ATL1):c.533T>G (p.Leu178Ter) | not provided [RCV001755000] | uncertain significance | 14 | 50593856 | 50593856 | Human | | name |
| 151754487 | CV1335943 | single nucleotide variant | NM_015915.5(ATL1):c.670G>A (p.Glu224Lys) | Hereditary spastic paraplegia [RCV001848343] | uncertain significance | 14 | 50613298 | 50613298 | Human | 1 | name |
| 151793108 | CV1365528 | single nucleotide variant | NM_015915.5(ATL1):c.754A>C (p.Asn252His) | Hereditary spastic paraplegia 3A [RCV001907906] | uncertain significance | 14 | 50614403 | 50614403 | Human | 1 | name |
| 151786430 | CV1365741 | single nucleotide variant | NM_015915.5(ATL1):c.544G>A (p.Val182Ile) | Hereditary spastic paraplegia 3A [RCV001893789] | uncertain significance | 14 | 50593867 | 50593867 | Human | 1 | name |
| 151818355 | CV1385077 | single nucleotide variant | NM_015915.5(ATL1):c.997A>G (p.Ile333Val) | Hereditary spastic paraplegia 3A [RCV001958165]|Inborn genetic diseases [RCV004681349] | likely benign|uncertain significance | 14 | 50621849 | 50621849 | Human | 2 | name |
| 151807013 | CV1441106 | single nucleotide variant | NM_015915.5(ATL1):c.391C>T (p.Leu131Phe) | Hereditary spastic paraplegia 3A [RCV001933778] | uncertain significance | 14 | 50591049 | 50591049 | Human | 1 | name |
| 151823900 | CV1458085 | single nucleotide variant | NM_015915.5(ATL1):c.773A>T (p.His258Leu) | Hereditary spastic paraplegia 3A [RCV001970209] | pathogenic | 14 | 50614422 | 50614422 | Human | 1 | name |
| 151718589 | CV1468563 | single nucleotide variant | NM_015915.5(ATL1):c.482C>T (p.Ala161Val) | Hereditary spastic paraplegia 3A [RCV002030577] | likely pathogenic | 14 | 50591599 | 50591599 | Human | 1 | name |
| 151724274 | CV1482589 | single nucleotide variant | NM_015915.5(ATL1):c.568C>T (p.Leu190Phe) | Hereditary spastic paraplegia 3A [RCV002047311]|not provided [RCV002285507] | uncertain significance | 14 | 50593891 | 50593891 | Human | 1 | name |
| 151712253 | CV1485294 | single nucleotide variant | NM_015915.5(ATL1):c.341G>T (p.Gly114Val) | Hereditary spastic paraplegia 3A [RCV002006429] | uncertain significance | 14 | 50590999 | 50590999 | Human | 1 | name |
| 151808949 | CV1506728 | single nucleotide variant | NM_015915.5(ATL1):c.409G>T (p.Gly137Cys) | Hereditary spastic paraplegia 3A [RCV001937898]|Inborn genetic diseases [RCV002324316] | uncertain significance | 14 | 50591067 | 50591067 | Human | 2 | name |
| 9681764 | CV167412 | single nucleotide variant | NM_015915.5(ATL1):c.353G>A (p.Arg118Gln) | Hereditary spastic paraplegia 3A [RCV002514782]|not provided [RCV000144894] | pathogenic|likely pathogenic|uncertain significance | 14 | 50591011 | 50591011 | Human | 1 | name |
| 152982326 | CV1677268 | single nucleotide variant | NM_015915.5(ATL1):c.466A>C (p.Thr156Pro) | Hereditary spastic paraplegia 3A [RCV002248974] | pathogenic|likely pathogenic | 14 | 50591583 | 50591583 | Human | 1 | name |
| 153001184 | CV1679933 | single nucleotide variant | NM_015915.5(ATL1):c.740A>C (p.His247Pro) | not provided [RCV002251612] | likely pathogenic | 14 | 50614389 | 50614389 | Human | | name |
| 153303948 | CV1686533 | single nucleotide variant | NM_015915.5(ATL1):c.299T>C (p.Val100Ala) | not provided [RCV002261967] | uncertain significance | 14 | 50590957 | 50590957 | Human | | name |
| 153301804 | CV1687937 | single nucleotide variant | NM_015915.5(ATL1):c.628C>A (p.Gln210Lys) | not provided [RCV002265163] | uncertain significance | 14 | 50595630 | 50595630 | Human | | name |
| 155697866 | CV1778712 | single nucleotide variant | NM_015915.5(ATL1):c.412A>G (p.Lys138Glu) | Hereditary spastic paraplegia 3A [RCV002299752] | uncertain significance | 14 | 50591070 | 50591070 | Human | 1 | name |
| 155715298 | CV1784907 | single nucleotide variant | NM_015915.5(ATL1):c.308A>G (p.Tyr103Cys) | Hereditary spastic paraplegia 3A [RCV003102304]|Inborn genetic diseases [RCV002325767] | uncertain significance | 14 | 50590966 | 50590966 | Human | 2 | name |
| 155740475 | CV1809415 | single nucleotide variant | NM_015915.5(ATL1):c.499A>G (p.Ser167Gly) | Inborn genetic diseases [RCV002342985] | uncertain significance | 14 | 50591616 | 50591616 | Human | 1 | name |
| 155747115 | CV1816645 | single nucleotide variant | NM_015915.5(ATL1):c.788A>G (p.Asn263Ser) | Hereditary spastic paraplegia 3A [RCV003099774]|Inborn genetic diseases [RCV002416573] | uncertain significance | 14 | 50614437 | 50614437 | Human | 2 | name |
| 155701778 | CV1818446 | single nucleotide variant | NM_015915.5(ATL1):c.968G>A (p.Arg323Gln) | Inborn genetic diseases [RCV002376578] | uncertain significance | 14 | 50620704 | 50620704 | Human | 1 | name |
| 155702702 | CV1825381 | single nucleotide variant | NM_015915.5(ATL1):c.970G>T (p.Gly324Cys) | Inborn genetic diseases [RCV002376695] | uncertain significance | 14 | 50620706 | 50620706 | Human | 1 | name |
| 155797592 | CV1863392 | single nucleotide variant | NM_015915.5(ATL1):c.458G>C (p.Ser153Thr) | Hereditary spastic paraplegia 3A [RCV002470667] | likely pathogenic | 14 | 50591575 | 50591575 | Human | 1 | name |
| 156176586 | CV1874703 | single nucleotide variant | NM_015915.5(ATL1):c.916A>G (p.Ser306Gly) | Hereditary spastic paraplegia 3A [RCV003041206] | uncertain significance | 14 | 50620652 | 50620652 | Human | 1 | name |
| 10045100 | CV188852 | single nucleotide variant | NM_015915.5(ATL1):c.988A>T (p.Lys330Ter) | Hereditary spastic paraplegia 3A [RCV003987402]|not provided [RCV000171222] | pathogenic|likely pathogenic|no classifications from unflagged records | 14 | 50620724 | 50620724 | Human | 1 | name |
| 156416825 | CV1898238 | single nucleotide variant | NM_015915.5(ATL1):c.884A>G (p.Lys295Arg) | Hereditary spastic paraplegia 3A [RCV002610381]|Inborn genetic diseases [RCV004673805] | uncertain significance | 14 | 50620620 | 50620620 | Human | 2 | name |
| 155953580 | CV1918246 | single nucleotide variant | NM_015915.5(ATL1):c.947A>G (p.Asn316Ser) | Hereditary spastic paraplegia 3A [RCV002616355] | uncertain significance | 14 | 50620683 | 50620683 | Human | 1 | name |
| 156039094 | CV1929478 | single nucleotide variant | NM_015915.5(ATL1):c.375A>G (p.Ile125Met) | Hereditary spastic paraplegia 3A [RCV002637502] | uncertain significance | 14 | 50591033 | 50591033 | Human | 1 | name |
| 8596380 | CV19385 | single nucleotide variant | NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) | Hereditary spastic paraplegia 3A [RCV000004594]|Hereditary spastic paraplegia 3A [RCV000850530]|Hereditary spastic paraplegia [RCV001847579]|Spastic paraplegia [RCV001003978]|not provided [RCV000215830] | pathogenic|likely pathogenic | 14 | 50613343 | 50613343 | Human | 4 | name |
| 8596381 | CV19386 | single nucleotide variant | NM_015915.5(ATL1):c.776C>A (p.Ser259Tyr) | Hereditary spastic paraplegia 3A [RCV000004595] | pathogenic | 14 | 50614425 | 50614425 | Human | 1 | name |
| 8596382 | CV19387 | single nucleotide variant | NM_015915.5(ATL1):c.773A>G (p.His258Arg) | Hereditary spastic paraplegia 3A [RCV000004596] | pathogenic | 14 | 50614422 | 50614422 | Human | 1 | name |
| 8596383 | CV19388 | single nucleotide variant | NM_015915.5(ATL1):c.650G>A (p.Arg217Gln) | Hereditary spastic paraplegia 3A [RCV000004597]|not provided [RCV001725929] | pathogenic|likely pathogenic | 14 | 50613278 | 50613278 | Human | 1 | name |
| 8596386 | CV19392 | single nucleotide variant | NM_015915.5(ATL1):c.470T>G (p.Leu157Trp) | Hereditary spastic paraplegia 3A [RCV000004601] | pathogenic | 14 | 50591587 | 50591587 | Human | 1 | name |
| 156244079 | CV1956857 | single nucleotide variant | NM_015915.5(ATL1):c.864A>C (p.Glu288Asp) | Hereditary spastic paraplegia 3A [RCV002576320] | uncertain significance | 14 | 50620600 | 50620600 | Human | 1 | name |
| 156290788 | CV1998021 | single nucleotide variant | NM_015915.5(ATL1):c.875A>G (p.Glu292Gly) | Hereditary spastic paraplegia 3A [RCV002670757] | uncertain significance | 14 | 50620611 | 50620611 | Human | 1 | name |
| 156222381 | CV2009236 | single nucleotide variant | NM_015915.5(ATL1):c.898C>A (p.Leu300Met) | Hereditary spastic paraplegia 3A [RCV002701054]|not provided [RCV003443071] | uncertain significance | 14 | 50620634 | 50620634 | Human | 1 | name |
| 156202127 | CV2034782 | single nucleotide variant | NM_015915.5(ATL1):c.741T>G (p.His247Gln) | Hereditary spastic paraplegia 3A [RCV002766278] | uncertain significance | 14 | 50614390 | 50614390 | Human | 1 | name |
| 156285502 | CV2050153 | single nucleotide variant | NM_015915.5(ATL1):c.584A>C (p.Glu195Ala) | Hereditary spastic paraplegia 3A [RCV002807138] | pathogenic | 14 | 50595586 | 50595586 | Human | 1 | name |
| 10401322 | CV205019 | single nucleotide variant | NM_015915.5(ATL1):c.596T>A (p.Leu199Gln) | Hereditary spastic paraplegia 3A [RCV000190502] | pathogenic | 14 | 50595598 | 50595598 | Human | 1 | name |
| 156111131 | CV2121164 | single nucleotide variant | NM_015915.5(ATL1):c.710A>G (p.Glu237Gly) | Hereditary spastic paraplegia 3A [RCV002953119] | uncertain significance | 14 | 50613338 | 50613338 | Human | 1 | name |
| 156055136 | CV2192659 | single nucleotide variant | NM_015915.5(ATL1):c.412A>T (p.Lys138Ter) | not provided [RCV003037049] | uncertain significance | 14 | 50591070 | 50591070 | Human | | name |
| 10768241 | CV222372 | single nucleotide variant | NM_015915.5(ATL1):c.757G>A (p.Val253Ile) | Hereditary spastic paraplegia 3A [RCV000206078]|Hereditary spastic paraplegia [RCV001847933]|not provided [RCV000235294] | pathogenic|likely pathogenic | 14 | 50614406 | 50614406 | Human | 2 | name |
| 155993226 | CV2252198 | single nucleotide variant | NM_015915.5(ATL1):c.304G>C (p.Asp102His) | Inborn genetic diseases [RCV002778730] | uncertain significance | 14 | 50590962 | 50590962 | Human | 1 | name |
| 243063645 | CV2411922 | single nucleotide variant | NM_015915.5(ATL1):c.713A>G (p.Lys238Arg) | not provided [RCV003141646] | uncertain significance | 14 | 50613341 | 50613341 | Human | | name |
| 11523390 | CV244919 | single nucleotide variant | NM_015915.5(ATL1):c.416A>G (p.Lys139Arg) | not provided [RCV000235824] | uncertain significance | 14 | 50591074 | 50591074 | Human | | name |
| 11633172 | CV264598 | single nucleotide variant | NM_015915.5(ATL1):c.478T>C (p.Ser160Pro) | Hereditary spastic paraplegia 3A [RCV000705284]|not provided [RCV000316265] | pathogenic|uncertain significance | 14 | 50591595 | 50591595 | Human | 1 | name |
| 329848354 | CV2668001 | single nucleotide variant | NM_015915.5(ATL1):c.656G>A (p.Trp219Ter) | Hereditary spastic paraplegia [RCV003229541] | likely pathogenic | 14 | 50613284 | 50613284 | Human | 1 | name |
| 329953886 | CV2669225 | single nucleotide variant | NM_015915.5(ATL1):c.757G>T (p.Val253Phe) | Hereditary spastic paraplegia 3A [RCV003502715]|not provided [RCV003231729] | likely pathogenic|uncertain significance | 14 | 50614406 | 50614406 | Human | 1 | name |
| 401724115 | CV2672222 | single nucleotide variant | NM_015915.5(ATL1):c.845T>G (p.Phe282Cys) | not provided [RCV003239123] | uncertain significance | 14 | 50614494 | 50614494 | Human | | name |
| 401727681 | CV2736469 | duplication | NM_015915.5(ATL1):c.1474dup (p.Ala492fs) | Hereditary spastic paraplegia 3A [RCV003312917] | uncertain significance | 14 | 50628382 | 50628383 | Human | 1 | name |
| 401727682 | CV2736470 | duplication | NM_015915.5(ATL1):c.1504dup (p.Glu502fs) | Hereditary spastic paraplegia 3A [RCV003312918] | uncertain significance | 14 | 50628414 | 50628415 | Human | 1 | name |
| 401727684 | CV2736471 | single nucleotide variant | NM_015915.5(ATL1):c.452T>C (p.Phe151Ser) | Hereditary spastic paraplegia 3A [RCV003312919] | uncertain significance | 14 | 50591569 | 50591569 | Human | 1 | name |
| 401727685 | CV2736472 | single nucleotide variant | NM_015915.5(ATL1):c.460C>G (p.Gln154Glu) | Hereditary spastic paraplegia 3A [RCV003312920] | uncertain significance | 14 | 50591577 | 50591577 | Human | 1 | name |
| 401828694 | CV2743029 | single nucleotide variant | NM_015915.5(ATL1):c.404C>T (p.Pro135Leu) | not provided [RCV003325737] | uncertain significance | 14 | 50591062 | 50591062 | Human | | name |
| 401829269 | CV2743715 | single nucleotide variant | NM_015915.5(ATL1):c.439A>T (p.Thr147Ser) | not provided [RCV003326891] | uncertain significance | 14 | 50591556 | 50591556 | Human | | name |
| 401940518 | CV2839497 | single nucleotide variant | NM_015915.5(ATL1):c.709G>A (p.Glu237Lys) | Hereditary spastic paraplegia 3A [RCV003455853] | uncertain significance | 14 | 50613337 | 50613337 | Human | 1 | name |
| 404988773 | CV2849662 | single nucleotide variant | NM_015915.5(ATL1):c.602T>C (p.Met201Thr) | not provided [RCV003490489] | uncertain significance | 14 | 50595604 | 50595604 | Human | | name |
| 405065509 | CV2938179 | single nucleotide variant | NM_015915.5(ATL1):c.421G>T (p.Ala141Ser) | Hereditary spastic paraplegia 3A [RCV003611768] | uncertain significance | 14 | 50591538 | 50591538 | Human | 1 | name |
| 405077937 | CV2965328 | single nucleotide variant | NM_015915.5(ATL1):c.763A>G (p.Lys255Glu) | Hereditary spastic paraplegia 3A [RCV003612648] | uncertain significance | 14 | 50614412 | 50614412 | Human | 1 | name |
| 405078250 | CV2976125 | single nucleotide variant | NM_015915.5(ATL1):c.583G>A (p.Glu195Lys) | Hereditary spastic paraplegia 3A [RCV003612676] | uncertain significance | 14 | 50595585 | 50595585 | Human | 1 | name |
| 405078792 | CV2984025 | single nucleotide variant | NM_015915.5(ATL1):c.574C>G (p.Leu192Val) | Hereditary spastic paraplegia 3A [RCV003612723]|not provided [RCV004823177] | pathogenic|uncertain significance | 14 | 50595576 | 50595576 | Human | 1 | name |
| 405081571 | CV2998075 | single nucleotide variant | NM_015915.5(ATL1):c.317C>G (p.Pro106Arg) | Hereditary spastic paraplegia 3A [RCV003612969] | uncertain significance | 14 | 50590975 | 50590975 | Human | 1 | name |
| 405084249 | CV3000846 | single nucleotide variant | NM_015915.5(ATL1):c.574C>A (p.Leu192Ile) | Hereditary spastic paraplegia 3A [RCV003613197] | uncertain significance | 14 | 50595576 | 50595576 | Human | 1 | name |
| 405057445 | CV3022978 | single nucleotide variant | NM_015915.5(ATL1):c.463T>C (p.Ser155Pro) | Hereditary spastic paraplegia 3A [RCV003611027] | uncertain significance | 14 | 50591580 | 50591580 | Human | 1 | name |
| 405088224 | CV3028890 | single nucleotide variant | NM_015915.5(ATL1):c.336G>A (p.Trp112Ter) | Hereditary spastic paraplegia 3A [RCV003613515] | pathogenic | 14 | 50590994 | 50590994 | Human | 1 | name |
| 405291092 | CV3222199 | single nucleotide variant | NM_015915.5(ATL1):c.749T>G (p.Leu250Arg) | Hereditary spastic paraplegia 3A [RCV003985013] | not provided | 14 | 50614398 | 50614398 | Human | | name |
| 405701213 | CV3279957 | single nucleotide variant | NM_015915.5(ATL1):c.509T>C (p.Ile170Thr) | Inborn genetic diseases [RCV004425439] | uncertain significance | 14 | 50591626 | 50591626 | Human | 1 | name |
| 11626057 | CV329463 | single nucleotide variant | NM_015915.5(ATL1):c.622C>T (p.Pro208Ser) | ATL1-related disorder [RCV003409489]|Hereditary spastic paraplegia 3A [RCV000406065]|Inborn genetic diseases [RCV002365364]|not provided [RCV000428652] | conflicting interpretations of pathogenicity|uncertain significance | 14 | 50595624 | 50595624 | Human | 2 | name , trait , alternate_id |
| 407429098 | CV3413485 | single nucleotide variant | NM_015915.5(ATL1):c.701A>T (p.Lys234Ile) | Hereditary spastic paraplegia 3A [RCV004594893] | uncertain significance | 14 | 50613329 | 50613329 | Human | 1 | name |
| 8566970 | CV34380 | duplication | NM_015915.5(ATL1):c.1519dup (p.Ile507fs) | Hereditary spastic paraplegia 3A [RCV000020718] | pathogenic|conflicting interpretations of pathogenicity | 14 | 50628428 | 50628429 | Human | 1 | name |
| 8601221 | CV34383 | single nucleotide variant | NM_015915.5(ATL1):c.467C>T (p.Thr156Ile) | Hereditary spastic paraplegia 3A [RCV000020721]|not provided [RCV000713455] | pathogenic | 14 | 50591584 | 50591584 | Human | 1 | name |
| 8601222 | CV34384 | single nucleotide variant | NM_015915.5(ATL1):c.578T>G (p.Phe193Cys) | Hereditary spastic paraplegia 3A [RCV000020722] | benign|not provided | 14 | 50595580 | 50595580 | Human | 1 | name |
| 407504787 | CV3485158 | single nucleotide variant | NM_015915.5(ATL1):c.311A>T (p.Asn104Ile) | Inborn genetic diseases [RCV004670649] | uncertain significance | 14 | 50590969 | 50590969 | Human | 1 | name |
| 407505065 | CV3485169 | single nucleotide variant | NM_015915.5(ATL1):c.955A>C (p.Lys319Gln) | Inborn genetic diseases [RCV004670658] | uncertain significance | 14 | 50620691 | 50620691 | Human | 1 | name |
| 407505010 | CV3485200 | single nucleotide variant | NM_015915.5(ATL1):c.959T>C (p.Ile320Thr) | Inborn genetic diseases [RCV004670678] | uncertain significance | 14 | 50620695 | 50620695 | Human | 1 | name |
| 408391144 | CV3527905 | single nucleotide variant | NM_015915.5(ATL1):c.680A>G (p.Tyr227Cys) | not provided [RCV004775176]|not specified [RCV005061403] | uncertain significance | 14 | 50613308 | 50613308 | Human | | name |
| 597626988 | CV3599908 | single nucleotide variant | NM_015915.5(ATL1):c.843C>G (p.Asn281Lys) | Inborn genetic diseases [RCV004966302] | uncertain significance | 14 | 50614492 | 50614492 | Human | 1 | name |
| 597676193 | CV3710805 | single nucleotide variant | NM_015915.5(ATL1):c.940G>T (p.Glu314Ter) | Hereditary spastic paraplegia 3A [RCV005005637] | likely pathogenic | 14 | 50620676 | 50620676 | Human | 1 | name |
| 12843167 | CV373858 | single nucleotide variant | NM_015915.5(ATL1):c.322A>G (p.Thr108Ala) | Hereditary spastic paraplegia 3A [RCV000647937]|Inborn genetic diseases [RCV002446648]|not provided [RCV001702364] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50590980 | 50590980 | Human | 2 | name |
| 597932599 | CV3742653 | single nucleotide variant | NM_015915.5(ATL1):c.349G>C (p.Glu117Gln) | Hereditary spastic paraplegia 3A [RCV005076092] | uncertain significance | 14 | 50591007 | 50591007 | Human | 1 | name |
| 597936727 | CV3774564 | single nucleotide variant | NM_015915.5(ATL1):c.924G>C (p.Glu308Asp) | Hereditary spastic paraplegia 3A [RCV005117597] | uncertain significance | 14 | 50620660 | 50620660 | Human | 1 | name |
| 597944527 | CV3793747 | single nucleotide variant | NM_015915.5(ATL1):c.757G>C (p.Val253Leu) | Hereditary spastic paraplegia 3A [RCV005134387] | uncertain significance | 14 | 50614406 | 50614406 | Human | 1 | name |
| 597958745 | CV3797334 | single nucleotide variant | NM_015915.5(ATL1):c.417G>T (p.Lys139Asn) | Hereditary spastic paraplegia 3A [RCV005138021] | uncertain significance | 14 | 50591075 | 50591075 | Human | 1 | name |
| 597944092 | CV3812454 | single nucleotide variant | NM_015915.5(ATL1):c.995A>C (p.Tyr332Ser) | Hereditary spastic paraplegia 3A [RCV005159664] | uncertain significance | 14 | 50621847 | 50621847 | Human | 1 | name |
| 597959665 | CV3843424 | single nucleotide variant | NM_015915.5(ATL1):c.935T>C (p.Ile312Thr) | Hereditary spastic paraplegia 3A [RCV005192459] | uncertain significance | 14 | 50620671 | 50620671 | Human | 1 | name |
| 597906474 | CV3853460 | single nucleotide variant | NM_015915.5(ATL1):c.773A>C (p.His258Pro) | Hereditary spastic paraplegia 3A [RCV005202938] | uncertain significance | 14 | 50614422 | 50614422 | Human | 1 | name |
| 598218188 | CV3891630 | single nucleotide variant | NM_015915.5(ATL1):c.766C>A (p.His256Asn) | Hereditary spastic paraplegia 3A [RCV005252472]|not provided [RCV005410051] | uncertain significance | 14 | 50614415 | 50614415 | Human | 1 | name |
| 598243197 | CV3914870 | single nucleotide variant | NM_015915.5(ATL1):c.907T>C (p.Trp303Arg) | Inborn genetic diseases [RCV005276661] | uncertain significance | 14 | 50620643 | 50620643 | Human | 1 | name |
| 598243270 | CV3914886 | single nucleotide variant | NM_015915.5(ATL1):c.965G>C (p.Cys322Ser) | Inborn genetic diseases [RCV005276676] | uncertain significance | 14 | 50620701 | 50620701 | Human | 1 | name |
| 12887904 | CV399833 | single nucleotide variant | NM_015915.5(ATL1):c.461A>G (p.Gln154Arg) | Abnormal pyramidal sign [RCV001526629]|Hereditary spastic paraplegia 3A [RCV000469923] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50591578 | 50591578 | Human | 2 | name |
| 12906011 | CV413376 | single nucleotide variant | NM_015915.5(ATL1):c.922G>A (p.Glu308Lys) | Hereditary spastic paraplegia 3A [RCV001856884]|Neuropathy, hereditary sensory, type 1D [RCV001334885]|not provided [RCV000488307] | likely benign|uncertain significance | 14 | 50620658 | 50620658 | Human | 2 | name |
| 13446400 | CV437968 | single nucleotide variant | NM_015915.5(ATL1):c.688G>A (p.Asp230Asn) | Hereditary spastic paraplegia 3A [RCV001346950]|Inborn genetic diseases [RCV002367703]|Neuropathy, hereditary sensory, type 1D [RCV001706655]|not provided [RCV000513662] | uncertain significance | 14 | 50613316 | 50613316 | Human | 3 | name |
| 13481549 | CV441647 | single nucleotide variant | NM_015915.5(ATL1):c.481G>T (p.Ala161Ser) | Hereditary spastic paraplegia 3A [RCV000802695]|not specified [RCV000517609] | likely pathogenic|uncertain significance | 14 | 50591598 | 50591598 | Human | 1 | name |
| 13471157 | CV441648 | single nucleotide variant | NM_015915.5(ATL1):c.563A>G (p.Gln188Arg) | not provided [RCV000518489] | likely pathogenic | 14 | 50593886 | 50593886 | Human | | name |
| 13485984 | CV445234 | single nucleotide variant | NM_015915.5(ATL1):c.311A>G (p.Asn104Ser) | Hereditary spastic paraplegia 3A [RCV000536617]|not provided [RCV000522762] | conflicting interpretations of pathogenicity|uncertain significance | 14 | 50590969 | 50590969 | Human | 1 | name |
| 13477682 | CV445235 | single nucleotide variant | NM_015915.5(ATL1):c.587A>G (p.Tyr196Cys) | Hereditary spastic paraplegia 3A [RCV001320969]|not provided [RCV000520465] | pathogenic|likely pathogenic|uncertain significance | 14 | 50595589 | 50595589 | Human | 1 | name |
| 13494406 | CV463801 | single nucleotide variant | NM_015915.5(ATL1):c.594A>C (p.Arg198Ser) | Hereditary spastic paraplegia 3A [RCV000536383] | likely pathogenic|uncertain significance | 14 | 50595596 | 50595596 | Human | 1 | name |
| 13472402 | CV464298 | single nucleotide variant | NM_015915.5(ATL1):c.874G>A (p.Glu292Lys) | Hereditary spastic paraplegia 3A [RCV000524891] | uncertain significance | 14 | 50620610 | 50620610 | Human | 1 | name |
| 13499027 | CV464300 | single nucleotide variant | NM_015915.5(ATL1):c.953A>T (p.Asn318Ile) | Hereditary spastic paraplegia 3A [RCV000539569]|Inborn genetic diseases [RCV002530064]|not provided [RCV003235284] | uncertain significance | 14 | 50620689 | 50620689 | Human | 2 | name |
| 13620972 | CV528195 | single nucleotide variant | NM_015915.5(ATL1):c.769A>G (p.Ile257Val) | Hereditary spastic paraplegia 3A [RCV000647929] | uncertain significance | 14 | 50614418 | 50614418 | Human | 1 | name |
| 13620985 | CV528559 | single nucleotide variant | NM_015915.5(ATL1):c.306C>A (p.Asp102Glu) | Hereditary spastic paraplegia 3A [RCV000647939]|Inborn genetic diseases [RCV002449065]|Neuropathy, hereditary sensory, type 1D [RCV002260039]|not provided [RCV001653968] | benign|likely benign | 14 | 50590964 | 50590964 | Human | 3 | name |
| 13620978 | CV528565 | single nucleotide variant | NM_015915.5(ATL1):c.536C>A (p.Ser179Tyr) | Hereditary spastic paraplegia 3A [RCV000647934]|not provided [RCV003480737] | likely pathogenic|uncertain significance | 14 | 50593859 | 50593859 | Human | 1 | name |
| 13802608 | CV566492 | single nucleotide variant | NM_015915.5(ATL1):c.572A>G (p.Gln191Arg) | Hereditary spastic paraplegia 3A [RCV000698465] | pathogenic|likely pathogenic|uncertain significance | 14 | 50593895 | 50593895 | Human | 1 | name |
| 13807099 | CV568101 | single nucleotide variant | NM_015915.5(ATL1):c.373A>G (p.Ile125Val) | Hereditary spastic paraplegia 3A [RCV000700886] | uncertain significance | 14 | 50591031 | 50591031 | Human | 1 | name |
| 14396325 | CV612099 | deletion | NM_015915.5(ATL1):c.1511del (p.Gly504fs) | Hereditary spastic paraplegia 3A [RCV000761255] | likely pathogenic | 14 | 50628420 | 50628420 | Human | 1 | name |
| 14396816 | CV612987 | single nucleotide variant | NM_015915.5(ATL1):c.547C>G (p.Gln183Glu) | not provided [RCV000761873] | uncertain significance | 14 | 50593870 | 50593870 | Human | | name |
| 14704300 | CV626229 | duplication | NM_015915.5(ATL1):c.1111dup (p.Met371fs) | Neuropathy, hereditary sensory, type 1D [RCV000791019] | likely pathogenic | 14 | 50623233 | 50623234 | Human | 1 | name |
| 14707244 | CV642485 | single nucleotide variant | NM_015915.5(ATL1):c.388T>C (p.Phe130Leu) | Hereditary spastic paraplegia 3A [RCV000792266]|Inborn genetic diseases [RCV002352309] | uncertain significance | 14 | 50591046 | 50591046 | Human | 2 | name |
| 14724244 | CV642486 | single nucleotide variant | NM_015915.5(ATL1):c.540A>C (p.Gln180His) | Hereditary spastic paraplegia 3A [RCV000798317] | uncertain significance | 14 | 50593863 | 50593863 | Human | 1 | name |
| 14734121 | CV642487 | single nucleotide variant | NM_015915.5(ATL1):c.756C>A (p.Asn252Lys) | Hereditary spastic paraplegia 3A [RCV000818981] | uncertain significance | 14 | 50614405 | 50614405 | Human | 1 | name |
| 21072587 | CV791410 | single nucleotide variant | NM_015915.5(ATL1):c.488T>C (p.Val163Ala) | Hereditary spastic paraplegia 3A [RCV000989218]|not provided [RCV001580004] | pathogenic|likely pathogenic | 14 | 50591605 | 50591605 | Human | 1 | name |
| 26885717 | CV841542 | single nucleotide variant | NM_015915.5(ATL1):c.716G>T (p.Arg239Leu) | Hereditary spastic paraplegia 3A [RCV001065616] | pathogenic|likely pathogenic | 14 | 50613344 | 50613344 | Human | 1 | name |
| 26903382 | CV841543 | single nucleotide variant | NM_015915.5(ATL1):c.860A>G (p.Lys287Arg) | Hereditary spastic paraplegia 3A [RCV001050443] | uncertain significance | 14 | 50614509 | 50614509 | Human | 1 | name |
| 26896949 | CV841544 | single nucleotide variant | NM_015915.5(ATL1):c.918T>G (p.Ser306Arg) | Hereditary spastic paraplegia 3A [RCV001048303] | uncertain significance | 14 | 50620654 | 50620654 | Human | 1 | name |
| 28877905 | CV860107 | single nucleotide variant | NM_015915.5(ATL1):c.543T>A (p.Asn181Lys) | not provided [RCV001090530] | uncertain significance | 14 | 50593866 | 50593866 | Human | | name |
| 38462275 | CV919530 | single nucleotide variant | NM_015915.5(ATL1):c.833C>T (p.Thr278Ile) | Neuropathy, hereditary sensory, type 1D [RCV001198355] | uncertain significance | 14 | 50614482 | 50614482 | Human | 1 | name |
| 38468350 | CV920874 | single nucleotide variant | NM_015915.5(ATL1):c.564G>T (p.Gln188His) | not provided [RCV001200590] | uncertain significance | 14 | 50593887 | 50593887 | Human | | name |
| 38484569 | CV927093 | single nucleotide variant | NM_015915.5(ATL1):c.686C>G (p.Ala229Gly) | Hereditary spastic paraplegia 3A [RCV001219488]|Inborn genetic diseases [RCV002365992]|not provided [RCV001288451] | uncertain significance | 14 | 50613314 | 50613314 | Human | 2 | name |
| 38489015 | CV927094 | single nucleotide variant | NM_015915.5(ATL1):c.776C>T (p.Ser259Phe) | Hereditary spastic paraplegia 3A [RCV001221487]|not provided [RCV001268896] | pathogenic|conflicting interpretations of pathogenicity | 14 | 50614425 | 50614425 | Human | 1 | name |
| 38476577 | CV936633 | single nucleotide variant | NM_015915.5(ATL1):c.473G>T (p.Arg158Ile) | Hereditary spastic paraplegia 3A [RCV001204748] | uncertain significance | 14 | 50591590 | 50591590 | Human | 1 | name |
| 38458564 | CV936634 | single nucleotide variant | NM_015915.5(ATL1):c.971G>A (p.Gly324Asp) | Hereditary spastic paraplegia 3A [RCV001211444] | uncertain significance | 14 | 50620707 | 50620707 | Human | 1 | name |
| 38494201 | CV957231 | single nucleotide variant | NM_015915.5(ATL1):c.598G>A (p.Ala200Thr) | Hereditary spastic paraplegia 3A [RCV001240910] | uncertain significance | 14 | 50595600 | 50595600 | Human | 1 | name |
| 38598089 | CV963167 | single nucleotide variant | NM_015915.5(ATL1):c.574C>T (p.Leu192Phe) | Hereditary spastic paraplegia 3A [RCV001251114] | likely pathogenic | 14 | 50595576 | 50595576 | Human | 1 | name |
| 40889894 | CV975391 | single nucleotide variant | NM_015915.5(ATL1):c.352C>T (p.Arg118Ter) | not provided [RCV001268399] | pathogenic | 14 | 50591010 | 50591010 | Human | | name |
| 127233981 | CV977099 | single nucleotide variant | NM_015915.5(ATL1):c.470T>C (p.Leu157Ser) | Hereditary spastic paraplegia 3A [RCV001391390] | pathogenic | 14 | 50591587 | 50591587 | Human | 1 | name |
| 127233986 | CV977100 | single nucleotide variant | NM_015915.5(ATL1):c.575T>A (p.Leu192His) | Hereditary spastic paraplegia 3A [RCV001391391] | pathogenic | 14 | 50595577 | 50595577 | Human | 1 | name |
| 127233987 | CV977101 | single nucleotide variant | NM_015915.5(ATL1):c.749T>C (p.Leu250Pro) | Hereditary spastic paraplegia 3A [RCV001391392] | pathogenic | 14 | 50614398 | 50614398 | Human | 1 | name |
| 127233991 | CV977102 | single nucleotide variant | NM_015915.5(ATL1):c.751C>A (p.Gln251Lys) | Hereditary spastic paraplegia 3A [RCV001391393] | pathogenic|conflicting interpretations of pathogenicity | 14 | 50614400 | 50614400 | Human | 1 | name |
| 127233995 | CV977104 | deletion | NM_015915.5(ATL1):c.1207del (p.Arg403fs) | Hereditary spastic paraplegia 3A [RCV001391395] | pathogenic | 14 | 50628117 | 50628117 | Human | 1 | name |
| 126731193 | CV995863 | single nucleotide variant | NM_015915.5(ATL1):c.731G>T (p.Gly244Val) | Hereditary spastic paraplegia 3A [RCV001294337] | uncertain significance | 14 | 50614380 | 50614380 | Human | 1 | name |
| 126751799 | CV1011127 | single nucleotide variant | NM_015915.5(ATL1):c.1360G>C (p.Val454Leu) | Hereditary spastic paraplegia 3A [RCV001316182]|Inborn genetic diseases [RCV002384399]|not provided [RCV001751606] | uncertain significance | 14 | 50628271 | 50628271 | Human | 2 | name |
| 126765463 | CV1031624 | single nucleotide variant | NM_015915.5(ATL1):c.1511G>A (p.Gly504Glu) | Hereditary spastic paraplegia 3A [RCV001342040] | uncertain significance | 14 | 50628422 | 50628422 | Human | 1 | name |
| 126763930 | CV1031625 | single nucleotide variant | NM_015915.5(ATL1):c.1638G>C (p.Lys546Asn) | Hereditary spastic paraplegia 3A [RCV001341468] | uncertain significance | 14 | 50632300 | 50632300 | Human | 1 | name |
| 127258561 | CV1056171 | single nucleotide variant | NM_015915.5(ATL1):c.1048G>T (p.Ala350Ser) | Hereditary spastic paraplegia 3A [RCV001379963] | likely pathogenic | 14 | 50623177 | 50623177 | Human | 1 | name |
| 127257122 | CV1056172 | single nucleotide variant | NM_015915.5(ATL1):c.1216A>C (p.Lys406Gln) | Accessory ectopic thyroid tissue [RCV001849513]|Hereditary spastic paraplegia 3A [RCV001379692] | likely pathogenic|uncertain significance | 14 | 50628127 | 50628127 | Human | 2 | name |
| 151349261 | CV1170287 | single nucleotide variant | NM_015915.5(ATL1):c.1225G>A (p.Gly409Ser) | Abnormality of the nervous system [RCV001814486] | likely pathogenic | 14 | 50628136 | 50628136 | Human | 2 | name |
| 150405263 | CV1191585 | single nucleotide variant | NM_015915.5(ATL1):c.1051A>G (p.Thr351Ala) | Hereditary spastic paraplegia 3A [RCV002568431]|not provided [RCV001564203] | likely pathogenic|uncertain significance | 14 | 50623180 | 50623180 | Human | 1 | name |
| 150481938 | CV1265700 | single nucleotide variant | NM_015915.5(ATL1):c.1501C>T (p.Arg501Ter) | ATL1-related spastic paraplegia, recessive [RCV005253870]|not provided [RCV001682696] | pathogenic | 14 | 50628412 | 50628412 | Human | | name , trait |
| 150495554 | CV1282983 | insertion | NM_015915.5(ATL1):c.1552-68_1552-67insATA | Hereditary spastic paraplegia 3A [RCV002260389]|Neuropathy, hereditary sensory, type 1D [RCV002260390]|not provided [RCV001717405] | benign | 14 | 50629926 | 50629927 | Human | 2 | name |
| 150551432 | CV1292708 | single nucleotide variant | NM_015915.5(ATL1):c.1346C>A (p.Ala449Asp) | not provided [RCV001754316] | likely pathogenic|uncertain significance | 14 | 50628257 | 50628257 | Human | | name |
| 151351791 | CV1323635 | single nucleotide variant | NM_015915.5(ATL1):c.1061C>T (p.Ala354Val) | See cases [RCV004584447] | uncertain significance | 14 | 50623190 | 50623190 | Human | | name |
| 151353173 | CV1326118 | single nucleotide variant | NM_015915.5(ATL1):c.1242C>G (p.Ser414Arg) | not provided [RCV001816138] | likely pathogenic | 14 | 50628153 | 50628153 | Human | | name |
| 151733532 | CV1336579 | single nucleotide variant | NM_015915.5(ATL1):c.1049C>T (p.Ala350Val) | Lingual thyroid [RCV001849809] | uncertain significance | 14 | 50623178 | 50623178 | Human | 2 | name |
| 151710228 | CV1338846 | single nucleotide variant | NM_015915.5(ATL1):c.1574A>G (p.Tyr525Cys) | Hereditary spastic paraplegia 3A [RCV001997381]|Inborn genetic diseases [RCV004043903] | uncertain significance | 14 | 50632236 | 50632236 | Human | 2 | name |
| 151724839 | CV1350614 | single nucleotide variant | NM_015915.5(ATL1):c.1460C>T (p.Thr487Ile) | Hereditary spastic paraplegia 3A [RCV002048916] | uncertain significance | 14 | 50628371 | 50628371 | Human | 1 | name |
| 151715139 | CV1351593 | single nucleotide variant | NM_015915.5(ATL1):c.1502G>A (p.Arg501Gln) | Hereditary spastic paraplegia 3A [RCV002018912] | uncertain significance | 14 | 50628413 | 50628413 | Human | 1 | name |
| 151812481 | CV1361565 | single nucleotide variant | NM_015915.5(ATL1):c.1256A>T (p.Gln419Leu) | Hereditary spastic paraplegia 3A [RCV001945080] | uncertain significance | 14 | 50628167 | 50628167 | Human | 1 | name |
| 151821544 | CV1379637 | single nucleotide variant | NM_015915.5(ATL1):c.1514C>G (p.Ala505Gly) | Hereditary spastic paraplegia 3A [RCV001964851] | uncertain significance | 14 | 50628425 | 50628425 | Human | 1 | name |
| 151777049 | CV1430839 | single nucleotide variant | NM_015915.5(ATL1):c.1501C>G (p.Arg501Gly) | Hereditary spastic paraplegia 3A [RCV001877330] | uncertain significance | 14 | 50628412 | 50628412 | Human | 1 | name |
| 151720182 | CV1437155 | single nucleotide variant | NM_015915.5(ATL1):c.1263G>C (p.Leu421Phe) | Hereditary spastic paraplegia 3A [RCV002035784] | uncertain significance | 14 | 50628174 | 50628174 | Human | 1 | name |
| 151808254 | CV1457636 | single nucleotide variant | NM_015915.5(ATL1):c.1631C>T (p.Thr544Ile) | Hereditary spastic paraplegia 3A [RCV001936422] | uncertain significance | 14 | 50632293 | 50632293 | Human | 1 | name |
| 151711107 | CV1472029 | single nucleotide variant | NM_015915.5(ATL1):c.1640C>T (p.Ser547Leu) | Hereditary spastic paraplegia 3A [RCV002000917] | uncertain significance | 14 | 50632302 | 50632302 | Human | 1 | name |
| 151790766 | CV1483958 | single nucleotide variant | NM_015915.5(ATL1):c.1663A>G (p.Lys555Glu) | Hereditary spastic paraplegia 3A [RCV001903600] | uncertain significance | 14 | 50632325 | 50632325 | Human | 1 | name |
| 151807764 | CV1493424 | single nucleotide variant | NM_015915.5(ATL1):c.1191A>C (p.Glu397Asp) | Hereditary spastic paraplegia 3A [RCV001935360] | uncertain significance | 14 | 50628102 | 50628102 | Human | 1 | name |
| 151717650 | CV1495586 | single nucleotide variant | NM_015915.5(ATL1):c.1323C>G (p.Ile441Met) | Hereditary spastic paraplegia 3A [RCV002026877] | uncertain significance | 14 | 50628234 | 50628234 | Human | 1 | name |
| 151770602 | CV1512828 | single nucleotide variant | NM_015915.5(ATL1):c.1519A>G (p.Ile507Val) | Hereditary spastic paraplegia 3A [RCV001866802]|Inborn genetic diseases [RCV003375376]|not provided [RCV005001242] | uncertain significance | 14 | 50628430 | 50628430 | Human | 2 | name |
| 152980657 | CV1676042 | single nucleotide variant | NM_015915.5(ATL1):c.1288A>C (p.Ile430Leu) | Hereditary spastic paraplegia 3A [RCV003101322]|not provided [RCV002245111] | uncertain significance | 14 | 50628199 | 50628199 | Human | 1 | name |
| 152999470 | CV1679825 | single nucleotide variant | NM_015915.5(ATL1):c.1027C>G (p.His343Asp) | Hereditary spastic paraplegia 3A [RCV002251214] | uncertain significance | 14 | 50621879 | 50621879 | Human | 1 | name |
| 153304589 | CV1687151 | single nucleotide variant | NM_015915.5(ATL1):c.1556G>C (p.Ser519Thr) | not provided [RCV002262439] | uncertain significance | 14 | 50629999 | 50629999 | Human | | name |
| 153348427 | CV1692464 | single nucleotide variant | NM_015915.5(ATL1):c.1018G>A (p.Glu340Lys) | Neurodevelopmental delay [RCV002274317] | likely pathogenic | 14 | 50621870 | 50621870 | Human | 1 | name |
| 153348428 | CV1692465 | single nucleotide variant | NM_015915.5(ATL1):c.1031C>A (p.Pro344His) | Neurodevelopmental delay [RCV002274318] | likely pathogenic | 14 | 50621883 | 50621883 | Human | 1 | name |
| 155266733 | CV1699291 | single nucleotide variant | NM_015915.5(ATL1):c.1508T>C (p.Leu503Pro) | not provided [RCV002283086] | uncertain significance | 14 | 50628419 | 50628419 | Human | | name |
| 155643482 | CV1707867 | single nucleotide variant | NM_015915.5(ATL1):c.1358T>C (p.Val453Ala) | Hereditary spastic paraplegia 3A [RCV002289328] | uncertain significance | 14 | 50628269 | 50628269 | Human | 1 | name |
| 155666570 | CV1773384 | single nucleotide variant | NM_015915.5(ATL1):c.1070T>C (p.Leu357Ser) | ATL1-related disorder [RCV003403782]|Hereditary spastic paraplegia 3A [RCV002297096] | uncertain significance | 14 | 50623199 | 50623199 | Human | 1 | name , trait , alternate_id |
| 155672082 | CV1773978 | single nucleotide variant | NM_015915.5(ATL1):c.1674G>A (p.Met558Ile) | Hereditary spastic paraplegia 3A [RCV002297548] | uncertain significance | 14 | 50632336 | 50632336 | Human | 1 | name |
| 155742997 | CV1777459 | single nucleotide variant | NM_015915.5(ATL1):c.1673T>G (p.Met558Arg) | Hereditary spastic paraplegia 3A [RCV002302960] | uncertain significance | 14 | 50632335 | 50632335 | Human | 1 | name |
| 155714510 | CV1815311 | single nucleotide variant | NM_015915.5(ATL1):c.1232A>C (p.Glu411Ala) | Inborn genetic diseases [RCV002362133] | uncertain significance | 14 | 50628143 | 50628143 | Human | 1 | name |
| 155720361 | CV1830730 | single nucleotide variant | NM_015915.5(ATL1):c.1572G>C (p.Leu524Phe) | Hereditary spastic paraplegia 3A [RCV003774391]|Inborn genetic diseases [RCV002405673] | uncertain significance | 14 | 50632234 | 50632234 | Human | 2 | name |
| 155702577 | CV1837659 | single nucleotide variant | NM_015915.5(ATL1):c.1612T>A (p.Tyr538Asn) | Hereditary spastic paraplegia 3A [RCV003611608]|Inborn genetic diseases [RCV002394847] | uncertain significance | 14 | 50632274 | 50632274 | Human | 2 | name |
| 155671849 | CV1852230 | single nucleotide variant | NM_015915.5(ATL1):c.1109A>G (p.Lys370Arg) | Inborn genetic diseases [RCV002437275] | uncertain significance | 14 | 50623238 | 50623238 | Human | 1 | name |
| 155795447 | CV1861305 | single nucleotide variant | NM_015915.5(ATL1):c.1445G>T (p.Gly482Val) | not provided [RCV002469587] | uncertain significance | 14 | 50628356 | 50628356 | Human | | name |
| 156330142 | CV1884302 | single nucleotide variant | NM_015915.5(ATL1):c.1309G>A (p.Asp437Asn) | Hereditary spastic paraplegia 3A [RCV003089743] | uncertain significance | 14 | 50628220 | 50628220 | Human | 1 | name |
| 156412005 | CV1890263 | single nucleotide variant | NM_015915.5(ATL1):c.1336C>T (p.Arg446Cys) | Hereditary spastic paraplegia 3A [RCV003072717] | uncertain significance | 14 | 50628247 | 50628247 | Human | 1 | name |
| 156204931 | CV1913103 | single nucleotide variant | NM_015915.5(ATL1):c.1267A>G (p.Ser423Gly) | Hereditary spastic paraplegia 3A [RCV002595845] | uncertain significance | 14 | 50628178 | 50628178 | Human | 1 | name |
| 156304435 | CV1916326 | single nucleotide variant | NM_015915.5(ATL1):c.1484G>A (p.Arg495Gln) | Hereditary spastic paraplegia 3A [RCV002599329]|not provided [RCV005098907] | likely pathogenic|uncertain significance | 14 | 50628395 | 50628395 | Human | 1 | name |
| 8596384 | CV19390 | single nucleotide variant | NM_015915.5(ATL1):c.1222A>G (p.Met408Val) | Hereditary spastic paraplegia 3A [RCV000004599] | pathogenic|likely pathogenic | 14 | 50628133 | 50628133 | Human | 1 | name |
| 8596385 | CV19391 | single nucleotide variant | NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) | Hereditary spastic paraplegia 3A [RCV000004600]|Inborn genetic diseases [RCV000190652]|not provided [RCV001090532] | pathogenic|likely pathogenic | 14 | 50628154 | 50628154 | Human | 2 | name |
| 156285006 | CV1964546 | single nucleotide variant | NM_015915.5(ATL1):c.1639T>G (p.Ser547Ala) | Hereditary spastic paraplegia 3A [RCV002577605] | uncertain significance | 14 | 50632301 | 50632301 | Human | 1 | name |
| 156417448 | CV1966958 | single nucleotide variant | NM_015915.5(ATL1):c.1337G>A (p.Arg446His) | Hereditary spastic paraplegia 3A [RCV002590195] | uncertain significance | 14 | 50628248 | 50628248 | Human | 1 | name |
| 156013796 | CV2038463 | single nucleotide variant | NM_015915.5(ATL1):c.1208G>A (p.Arg403Gln) | Hereditary spastic paraplegia 3A [RCV002780286] | uncertain significance | 14 | 50628119 | 50628119 | Human | 1 | name |
| 155956819 | CV2087036 | single nucleotide variant | NM_015915.5(ATL1):c.1214T>G (p.Val405Gly) | Hereditary spastic paraplegia 3A [RCV002862650] | likely pathogenic | 14 | 50628125 | 50628125 | Human | 1 | name |
| 155986963 | CV2097920 | single nucleotide variant | NM_015915.5(ATL1):c.1101C>A (p.Tyr367Ter) | Hereditary spastic paraplegia 3A [RCV002882206] | pathogenic | 14 | 50623230 | 50623230 | Human | 1 | name |
| 156335574 | CV2099427 | single nucleotide variant | NM_015915.5(ATL1):c.1415T>G (p.Ile472Ser) | Hereditary spastic paraplegia 3A [RCV002900182] | uncertain significance | 14 | 50628326 | 50628326 | Human | 1 | name |
| 156302548 | CV2146381 | single nucleotide variant | NM_015915.5(ATL1):c.1665G>T (p.Lys555Asn) | Hereditary spastic paraplegia 3A [RCV003028164] | uncertain significance | 14 | 50632327 | 50632327 | Human | 1 | name |
| 156107231 | CV2149498 | single nucleotide variant | NM_015915.5(ATL1):c.1369A>G (p.Ile457Val) | Hereditary spastic paraplegia 3A [RCV003021263] | uncertain significance | 14 | 50628280 | 50628280 | Human | 1 | name |
| 156065615 | CV2170707 | single nucleotide variant | NM_015915.5(ATL1):c.1173C>A (p.His391Gln) | Hereditary spastic paraplegia 3A [RCV003019879] | uncertain significance | 14 | 50628084 | 50628084 | Human | 1 | name |
| 156264762 | CV2189126 | single nucleotide variant | NM_015915.5(ATL1):c.1134C>G (p.Asp378Glu) | Hereditary spastic paraplegia 3A [RCV003044245] | uncertain significance | 14 | 50628045 | 50628045 | Human | 1 | name |
| 10766960 | CV222373 | single nucleotide variant | NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr) | Hereditary spastic paraplegia 3A [RCV000203941] | likely pathogenic | 14 | 50628104 | 50628104 | Human | 1 | name |
| 10766828 | CV222374 | single nucleotide variant | NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) | Hereditary spastic paraplegia 3A [RCV000203724]|Hereditary spastic paraplegia [RCV001847927]|Inborn genetic diseases [RCV000624103]|not provided [RCV000390284] | pathogenic|likely pathogenic | 14 | 50628394 | 50628394 | Human | 3 | name |
| 243063644 | CV2411923 | single nucleotide variant | NM_015915.5(ATL1):c.1602C>A (p.His534Gln) | Hereditary spastic paraplegia 3A [RCV003502696]|not provided [RCV003141647] | uncertain significance | 14 | 50632264 | 50632264 | Human | 1 | name |
| 243063643 | CV2411924 | single nucleotide variant | NM_015915.5(ATL1):c.1229G>C (p.Gly410Ala) | not provided [RCV003141648] | uncertain significance | 14 | 50628140 | 50628140 | Human | | name |
| 243052981 | CV2418065 | single nucleotide variant | NM_015915.5(ATL1):c.1041G>T (p.Met347Ile) | Hereditary spastic paraplegia 3A [RCV003153130] | likely pathogenic | 14 | 50621893 | 50621893 | Human | 1 | name |
| 401798521 | CV2669603 | single nucleotide variant | NM_015915.5(ATL1):c.1208G>C (p.Arg403Pro) | Hereditary spastic paraplegia 3A [RCV003320400] | likely pathogenic | 14 | 50628119 | 50628119 | Human | 1 | name |
| 401727668 | CV2736460 | single nucleotide variant | NM_015915.5(ATL1):c.1024C>T (p.Pro342Ser) | Hereditary spastic paraplegia 3A [RCV003312908] | uncertain significance | 14 | 50621876 | 50621876 | Human | 1 | name |
| 401727670 | CV2736461 | single nucleotide variant | NM_015915.5(ATL1):c.1025C>A (p.Pro342Gln) | Hereditary spastic paraplegia 3A [RCV003312909] | uncertain significance | 14 | 50621877 | 50621877 | Human | 1 | name |
| 401727671 | CV2736462 | single nucleotide variant | NM_015915.5(ATL1):c.1030C>T (p.Pro344Ser) | Hereditary spastic paraplegia 3A [RCV003312910] | uncertain significance | 14 | 50621882 | 50621882 | Human | 1 | name |
| 401727672 | CV2736463 | single nucleotide variant | NM_015915.5(ATL1):c.1193C>T (p.Ser398Phe) | Hereditary spastic paraplegia 3A [RCV003312911]|not provided [RCV004719318] | pathogenic|uncertain significance | 14 | 50628104 | 50628104 | Human | 1 | name |
| 401727675 | CV2736465 | single nucleotide variant | NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu) | Hereditary spastic paraplegia 3A [RCV003312913] | likely pathogenic|uncertain significance | 14 | 50628148 | 50628148 | Human | 1 | name |
| 401727677 | CV2736466 | single nucleotide variant | NM_015915.5(ATL1):c.1237T>G (p.Phe413Val) | Hereditary spastic paraplegia 3A [RCV003312914] | uncertain significance | 14 | 50628148 | 50628148 | Human | 1 | name |
| 401727678 | CV2736467 | single nucleotide variant | NM_015915.5(ATL1):c.1319A>C (p.Asn440Thr) | Hereditary spastic paraplegia 3A [RCV003312915] | pathogenic|uncertain significance | 14 | 50628230 | 50628230 | Human | 1 | name |
| 401830751 | CV2748324 | single nucleotide variant | NM_015915.5(ATL1):c.1430G>C (p.Cys477Ser) | Hereditary spastic paraplegia 3A [RCV005061277]|not provided [RCV003329933] | uncertain significance | 14 | 50628341 | 50628341 | Human | 1 | name |
| 401902009 | CV2810416 | single nucleotide variant | NM_015915.5(ATL1):c.1269T>G (p.Ser423Arg) | not provided [RCV003393427] | uncertain significance | 14 | 50628180 | 50628180 | Human | | name |
| 402469879 | CV2882212 | single nucleotide variant | NM_015915.5(ATL1):c.1037C>T (p.Ser346Phe) | Hereditary spastic paraplegia 3A [RCV003504241] | uncertain significance | 14 | 50621889 | 50621889 | Human | 1 | name |
| 402471277 | CV2894803 | single nucleotide variant | NM_015915.5(ATL1):c.1221G>C (p.Lys407Asn) | Hereditary spastic paraplegia 3A [RCV003504578] | uncertain significance | 14 | 50628132 | 50628132 | Human | 1 | name |
| 402471273 | CV2894804 | single nucleotide variant | NM_015915.5(ATL1):c.1376A>G (p.Tyr459Cys) | Hereditary spastic paraplegia 3A [RCV003504579] | likely pathogenic | 14 | 50628287 | 50628287 | Human | 1 | name |
| 405131796 | CV2906793 | single nucleotide variant | NM_015915.5(ATL1):c.1079T>G (p.Val360Gly) | Hereditary spastic paraplegia 3A [RCV003502217] | uncertain significance | 14 | 50623208 | 50623208 | Human | 1 | name |
| 405134240 | CV2915655 | single nucleotide variant | NM_015915.5(ATL1):c.1129G>A (p.Gly377Ser) | Hereditary spastic paraplegia 3A [RCV003502473] | uncertain significance | 14 | 50628040 | 50628040 | Human | 1 | name |
| 405079732 | CV2988517 | single nucleotide variant | NM_015915.5(ATL1):c.1144C>G (p.Leu382Val) | Hereditary spastic paraplegia 3A [RCV003612809] | uncertain significance | 14 | 50628055 | 50628055 | Human | 1 | name |
| 405062636 | CV3052042 | single nucleotide variant | NM_015915.5(ATL1):c.1423A>G (p.Ser475Gly) | Hereditary spastic paraplegia 3A [RCV003611467] | uncertain significance | 14 | 50628334 | 50628334 | Human | 1 | name |
| 405081930 | CV3072401 | single nucleotide variant | NM_015915.5(ATL1):c.1097C>T (p.Thr366Ile) | Hereditary spastic paraplegia 3A [RCV003612999] | uncertain significance | 14 | 50623226 | 50623226 | Human | 1 | name |
| 405072602 | CV3072825 | single nucleotide variant | NM_015915.5(ATL1):c.1259A>C (p.Gln420Pro) | Hereditary spastic paraplegia 3A [RCV003612268] | uncertain significance | 14 | 50628170 | 50628170 | Human | 1 | name |
| 405186383 | CV3156388 | single nucleotide variant | NM_015915.5(ATL1):c.1552G>A (p.Gly518Arg) | Hereditary spastic paraplegia 3A [RCV003859266] | uncertain significance | 14 | 50629995 | 50629995 | Human | 1 | name |
| 405854085 | CV3393762 | single nucleotide variant | NM_015915.5(ATL1):c.1370T>C (p.Ile457Thr) | not provided [RCV004546988] | uncertain significance | 14 | 50628281 | 50628281 | Human | | name |
| 407525396 | CV3485137 | single nucleotide variant | NM_015915.5(ATL1):c.1616A>C (p.His539Pro) | Inborn genetic diseases [RCV004679224] | uncertain significance | 14 | 50632278 | 50632278 | Human | 1 | name |
| 407505026 | CV3485190 | single nucleotide variant | NM_015915.5(ATL1):c.1553G>C (p.Gly518Ala) | Inborn genetic diseases [RCV004670673] | uncertain significance | 14 | 50629996 | 50629996 | Human | 1 | name |
| 408389583 | CV3524626 | single nucleotide variant | NM_015915.5(ATL1):c.1237T>A (p.Phe413Ile) | not provided [RCV004769521] | uncertain significance | 14 | 50628148 | 50628148 | Human | | name |
| 596932740 | CV3539367 | single nucleotide variant | NM_015915.5(ATL1):c.1469C>T (p.Thr490Ile) | not provided [RCV004793991] | uncertain significance | 14 | 50628380 | 50628380 | Human | | name |
| 596926596 | CV3542215 | single nucleotide variant | NM_015915.5(ATL1):c.1006T>C (p.Tyr336His) | Hereditary spastic paraplegia 3A [RCV004796429] | uncertain significance | 14 | 50621858 | 50621858 | Human | 1 | name |
| 12841017 | CV373862 | single nucleotide variant | NM_015915.5(ATL1):c.1651G>T (p.Glu551Ter) | not provided [RCV000431827] | uncertain significance | 14 | 50632313 | 50632313 | Human | | name |
| 12838554 | CV374245 | single nucleotide variant | NM_015915.5(ATL1):c.1078G>A (p.Val360Met) | Hereditary spastic paraplegia 3A [RCV000647932]|Inborn genetic diseases [RCV002418324]|not provided [RCV001721415] | likely pathogenic|likely benign|uncertain significance | 14 | 50623207 | 50623207 | Human | 2 | name |
| 12836874 | CV374247 | single nucleotide variant | NM_015915.5(ATL1):c.1173C>G (p.His391Gln) | Hereditary spastic paraplegia 3A [RCV002526338]|not provided [RCV000424185] | uncertain significance | 14 | 50628084 | 50628084 | Human | 1 | name |
| 12845994 | CV376079 | single nucleotide variant | NM_015915.5(ATL1):c.1105A>C (p.Lys369Gln) | Inborn genetic diseases [RCV002429452]|not provided [RCV000440807] | uncertain significance | 14 | 50623234 | 50623234 | Human | 1 | name |
| 597925081 | CV3778137 | single nucleotide variant | NM_015915.5(ATL1):c.1435A>T (p.Met479Leu) | Hereditary spastic paraplegia 3A [RCV005130861] | uncertain significance | 14 | 50628346 | 50628346 | Human | 1 | name |
| 597962794 | CV3819452 | single nucleotide variant | NM_015915.5(ATL1):c.1605A>C (p.Arg535Ser) | Hereditary spastic paraplegia 3A [RCV005164168] | uncertain significance | 14 | 50632267 | 50632267 | Human | 1 | name |
| 597832505 | CV3831263 | single nucleotide variant | NM_015915.5(ATL1):c.1637A>G (p.Lys546Arg) | Hereditary spastic paraplegia 3A [RCV005170466] | uncertain significance | 14 | 50632299 | 50632299 | Human | 1 | name |
| 597959668 | CV3843425 | single nucleotide variant | NM_015915.5(ATL1):c.1064A>C (p.Asn355Thr) | Hereditary spastic paraplegia 3A [RCV005192460] | uncertain significance | 14 | 50623193 | 50623193 | Human | 1 | name |
| 597950262 | CV3846750 | single nucleotide variant | NM_015915.5(ATL1):c.1523A>C (p.Asp508Ala) | Hereditary spastic paraplegia 3A [RCV005189921] | uncertain significance | 14 | 50628434 | 50628434 | Human | 1 | name |
| 597967954 | CV3853316 | single nucleotide variant | NM_015915.5(ATL1):c.1138C>A (p.Pro380Thr) | Hereditary spastic paraplegia 3A [RCV005194958] | uncertain significance | 14 | 50628049 | 50628049 | Human | 1 | name |
| 597935922 | CV3858932 | single nucleotide variant | NM_015915.5(ATL1):c.1008T>G (p.Tyr336Ter) | Hereditary spastic paraplegia 3A [RCV005207653] | pathogenic | 14 | 50621860 | 50621860 | Human | 1 | name |
| 597931893 | CV3863296 | single nucleotide variant | NM_015915.5(ATL1):c.1013G>A (p.Gly338Asp) | Hereditary spastic paraplegia 3A [RCV005206822] | uncertain significance | 14 | 50621865 | 50621865 | Human | 1 | name |
| 8568445 | CV39536 | single nucleotide variant | NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys) | Charcot-Marie-Tooth disease [RCV000789726]|Neuropathy, hereditary sensory, type 1D [RCV000023542]|Penetrating foot ulcers [RCV000626932] | pathogenic|uncertain significance | 14 | 50623194 | 50623194 | Human | 6 | name |
| 8602261 | CV39539 | single nucleotide variant | NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys) | Hereditary spastic paraplegia 3A [RCV000023545]|Hereditary spastic paraplegia [RCV001847621]|Inborn genetic diseases [RCV002513195]|Neuropathy, hereditary sensory, type 1D [RCV004767019]|not provided [RCV002285257] | pathogenic|likely pathogenic | 14 | 50628157 | 50628157 | Human | 4 | name |
| 616939538 | CV4014033 | single nucleotide variant | NM_015915.5(ATL1):c.1249T>A (p.Tyr417Asn) | not provided [RCV005413525] | uncertain significance | 14 | 50628160 | 50628160 | Human | | name |
| 616939840 | CV4014443 | single nucleotide variant | NM_015915.5(ATL1):c.1378G>A (p.Val460Met) | not provided [RCV005413937] | uncertain significance | 14 | 50628289 | 50628289 | Human | | name |
| 616935525 | CV4016089 | single nucleotide variant | NM_015915.5(ATL1):c.1390G>A (p.Val464Met) | not provided [RCV005414955] | uncertain significance | 14 | 50628301 | 50628301 | Human | | name |
| 12893677 | CV409129 | single nucleotide variant | NM_015915.5(ATL1):c.1225G>T (p.Gly409Cys) | Hereditary spastic paraplegia 3A [RCV002526601]|not provided [RCV000479836] | pathogenic|likely pathogenic | 14 | 50628136 | 50628136 | Human | 1 | name |
| 13469973 | CV441649 | single nucleotide variant | NM_015915.5(ATL1):c.1228G>A (p.Gly410Arg) | Hereditary spastic paraplegia 3A [RCV002527456]|not provided [RCV000516661] | pathogenic|likely pathogenic | 14 | 50628139 | 50628139 | Human | 1 | name |
| 13478885 | CV445236 | single nucleotide variant | NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu) | Hereditary spastic paraplegia 3A [RCV002248755]|not provided [RCV000520804] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 14 | 50628115 | 50628115 | Human | 1 | name |
| 13490840 | CV463293 | single nucleotide variant | NM_015915.5(ATL1):c.1057G>A (p.Glu353Lys) | Hereditary spastic paraplegia 3A [RCV000556273] | likely pathogenic|uncertain significance | 14 | 50623186 | 50623186 | Human | 1 | name |
| 13467534 | CV463302 | single nucleotide variant | NM_015915.5(ATL1):c.1275A>G (p.Ile425Met) | Hereditary spastic paraplegia 3A [RCV000543969] | uncertain significance | 14 | 50628186 | 50628186 | Human | 1 | name |
| 13484163 | CV463803 | single nucleotide variant | NM_015915.5(ATL1):c.1213G>A (p.Val405Met) | Hereditary spastic paraplegia 3A [RCV000530204]|not provided [RCV004767372] | uncertain significance | 14 | 50628124 | 50628124 | Human | 1 | name |
| 13494267 | CV463808 | single nucleotide variant | NM_015915.5(ATL1):c.1379T>A (p.Val460Glu) | Hereditary spastic paraplegia 3A [RCV000558776] | uncertain significance | 14 | 50628290 | 50628290 | Human | 1 | name |
| 13612517 | CV514044 | single nucleotide variant | NM_015915.4(ATL1):c.1065C>A (p.Asn355Lys) | Penetrating foot ulcers [RCV000626932] | pathogenic | 14 | 50623194 | 50623194 | Human | 1 | name |
| 13620983 | CV528207 | single nucleotide variant | NM_015915.5(ATL1):c.1041G>A (p.Met347Ile) | Hereditary spastic paraplegia 3A [RCV000647936]|not provided [RCV003483702] | likely pathogenic|uncertain significance | 14 | 50621893 | 50621893 | Human | 1 | name |
| 13620971 | CV528210 | single nucleotide variant | NM_015915.5(ATL1):c.1189G>C (p.Glu397Gln) | Hereditary spastic paraplegia 3A [RCV000647928] | uncertain significance | 14 | 50628100 | 50628100 | Human | 1 | name |
| 13620980 | CV528213 | single nucleotide variant | NM_015915.5(ATL1):c.1556G>A (p.Ser519Asn) | Hereditary spastic paraplegia 3A [RCV000647935]|Hereditary spastic paraplegia 3A [RCV003483701] | uncertain significance|not provided | 14 | 50629999 | 50629999 | Human | 1 | name |
| 13620975 | CV528569 | single nucleotide variant | NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala) | Hereditary spastic paraplegia 3A [RCV000647931] | conflicting interpretations of pathogenicity|uncertain significance | 14 | 50621876 | 50621876 | Human | 1 | name |
| 13794491 | CV552176 | single nucleotide variant | NM_015915.5(ATL1):c.1206C>A (p.Phe402Leu) | Hereditary spastic paraplegia 3A [RCV000679930] | uncertain significance | 14 | 50628117 | 50628117 | Human | 1 | name |
| 13794492 | CV552177 | single nucleotide variant | NM_015915.5(ATL1):c.1222A>T (p.Met408Leu) | Hereditary spastic paraplegia 3A [RCV000679931] | uncertain significance | 14 | 50628133 | 50628133 | Human | 1 | name |
| 13821840 | CV568939 | single nucleotide variant | NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn) | Hereditary spastic paraplegia 3A [RCV000696450]|not provided [RCV000755830] | uncertain significance | 14 | 50628457 | 50628457 | Human | 1 | name |
| 14396817 | CV612988 | single nucleotide variant | NM_015915.5(ATL1):c.1308T>A (p.Asn436Lys) | not provided [RCV000761874] | likely pathogenic | 14 | 50628219 | 50628219 | Human | | name |
| 14711685 | CV642488 | single nucleotide variant | NM_015915.5(ATL1):c.1048G>A (p.Ala350Thr) | Hereditary spastic paraplegia 3A [RCV000810038] | pathogenic|uncertain significance | 14 | 50623177 | 50623177 | Human | 1 | name |
| 14712476 | CV642489 | single nucleotide variant | NM_015915.5(ATL1):c.1068T>A (p.Asn356Lys) | Hereditary spastic paraplegia 3A [RCV000793809] | likely pathogenic | 14 | 50623197 | 50623197 | Human | 1 | name |
| 14727433 | CV642490 | single nucleotide variant | NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser) | Hereditary spastic paraplegia 3A [RCV000816079]|not provided [RCV001547425] | pathogenic|likely pathogenic|uncertain significance | 14 | 50628071 | 50628071 | Human | 1 | name |
| 14703449 | CV642491 | single nucleotide variant | NM_015915.5(ATL1):c.1259A>G (p.Gln420Arg) | Hereditary spastic paraplegia 3A [RCV000807382] | uncertain significance | 14 | 50628170 | 50628170 | Human | 1 | name |
| 14728661 | CV642492 | single nucleotide variant | NM_015915.5(ATL1):c.1334C>T (p.Ala445Val) | Hereditary spastic paraplegia 3A [RCV000800152] | uncertain significance | 14 | 50628245 | 50628245 | Human | 1 | name |
| 14711697 | CV642493 | single nucleotide variant | NM_015915.5(ATL1):c.1414A>G (p.Ile472Val) | Hereditary spastic paraplegia 3A [RCV000810041] | uncertain significance | 14 | 50628325 | 50628325 | Human | 1 | name |
| 14712976 | CV642494 | single nucleotide variant | NM_015915.5(ATL1):c.1488C>A (p.Tyr496Ter) | Hereditary spastic paraplegia 3A [RCV000793973] | pathogenic|uncertain significance | 14 | 50628399 | 50628399 | Human | 1 | name |
| 14743537 | CV642495 | single nucleotide variant | NM_015915.5(ATL1):c.1502G>C (p.Arg501Pro) | Hereditary spastic paraplegia 3A [RCV000823500] | uncertain significance | 14 | 50628413 | 50628413 | Human | 1 | name |
| 14732815 | CV642496 | single nucleotide variant | NM_015915.5(ATL1):c.1573T>C (p.Tyr525His) | Hereditary spastic paraplegia 3A [RCV000802025] | uncertain significance | 14 | 50632235 | 50632235 | Human | 1 | name |
| 8617538 | CV71462 | single nucleotide variant | NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln) | Hereditary spastic paraplegia 3A [RCV000050231]|not provided [RCV000480817] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50628155 | 50628155 | Human | 1 | name |
| 21072588 | CV791411 | single nucleotide variant | NM_015915.5(ATL1):c.1223T>C (p.Met408Thr) | Hereditary spastic paraplegia 3A [RCV000989219]|not provided [RCV001585898] | pathogenic | 14 | 50628134 | 50628134 | Human | 1 | name |
| 21068026 | CV793502 | single nucleotide variant | NM_015915.5(ATL1):c.1040T>C (p.Met347Thr) | Hereditary spastic paraplegia 3A [RCV003311931]|not provided [RCV000993058] | pathogenic|uncertain significance | 14 | 50621892 | 50621892 | Human | 1 | name |
| 21074481 | CV797035 | single nucleotide variant | NM_015915.5(ATL1):c.1055C>A (p.Ala352Glu) | not provided [RCV000995174] | likely pathogenic | 14 | 50623184 | 50623184 | Human | | name |
| 25327659 | CV816001 | single nucleotide variant | NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu) | Hereditary spastic paraplegia 3A [RCV001027705] | likely pathogenic | 14 | 50628127 | 50628127 | Human | 1 | name |
| 26892624 | CV841545 | single nucleotide variant | NM_015915.5(ATL1):c.1030C>A (p.Pro344Thr) | Hereditary spastic paraplegia 3A [RCV001068765] | uncertain significance | 14 | 50621882 | 50621882 | Human | 1 | name |
| 26923528 | CV841546 | single nucleotide variant | NM_015915.5(ATL1):c.1247G>A (p.Arg416His) | Hereditary spastic paraplegia 3A [RCV001064153]|Inborn genetic diseases [RCV002393313]|not provided [RCV001593242] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50628158 | 50628158 | Human | 2 | name |
| 26923087 | CV841547 | single nucleotide variant | NM_015915.5(ATL1):c.1355T>C (p.Phe452Ser) | Hereditary spastic paraplegia 3A [RCV001063282]|Hereditary spastic paraplegia 3A [RCV005012515]|not provided [RCV002462308] | uncertain significance | 14 | 50628266 | 50628266 | Human | 1 | name |
| 26902005 | CV841548 | single nucleotide variant | NM_015915.5(ATL1):c.1673T>C (p.Met558Thr) | Hereditary spastic paraplegia 3A [RCV001071748] | uncertain significance | 14 | 50632335 | 50632335 | Human | 1 | name |
| 28877911 | CV860108 | single nucleotide variant | NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp) | Hereditary spastic paraplegia 3A [RCV003502587]|Hereditary spastic paraplegia [RCV001847151]|not provided [RCV001090531] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50628137 | 50628137 | Human | 2 | name |
| 38458147 | CV948579 | single nucleotide variant | NM_015915.5(ATL1):c.1142T>A (p.Phe381Tyr) | Hereditary spastic paraplegia 3A [RCV001228830] | uncertain significance | 14 | 50628053 | 50628053 | Human | 1 | name |
| 38469489 | CV948580 | single nucleotide variant | NM_015915.5(ATL1):c.1295A>G (p.Tyr432Cys) | Hereditary spastic paraplegia 3A [RCV001230783] | uncertain significance | 14 | 50628206 | 50628206 | Human | 1 | name |
| 38489407 | CV948581 | single nucleotide variant | NM_015915.5(ATL1):c.1322T>G (p.Ile441Ser) | Hereditary spastic paraplegia 3A [RCV001238403]|not provided [RCV001288450] | uncertain significance | 14 | 50628233 | 50628233 | Human | 1 | name |
| 38476017 | CV948582 | single nucleotide variant | NM_015915.5(ATL1):c.1330G>T (p.Ala444Ser) | Hereditary spastic paraplegia 3A [RCV001232886]|not provided [RCV001760239] | uncertain significance | 14 | 50628241 | 50628241 | Human | 1 | name |
| 38470229 | CV948583 | single nucleotide variant | NM_015915.5(ATL1):c.1673T>A (p.Met558Lys) | Hereditary spastic paraplegia 3A [RCV001230923]|not provided [RCV003227012] | uncertain significance | 14 | 50632335 | 50632335 | Human | 1 | name |
| 38468322 | CV957232 | single nucleotide variant | NM_015915.5(ATL1):c.1314C>G (p.Ser438Arg) | Hereditary spastic paraplegia 3A [RCV001248013]|not provided [RCV004769967] | uncertain significance | 14 | 50628225 | 50628225 | Human | 1 | name |
| 38598227 | CV964416 | single nucleotide variant | NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu) | Neuropathy, hereditary sensory, type 1D [RCV001253483] | uncertain significance | 14 | 50632296 | 50632296 | Human | 1 | name |
| 40814803 | CV970144 | single nucleotide variant | NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter) | Hereditary spastic paraplegia 3A [RCV001261529] | pathogenic | 14 | 50628383 | 50628383 | Human | 1 | name |
| 40887947 | CV973926 | single nucleotide variant | NM_015915.5(ATL1):c.1220A>T (p.Lys407Met) | Hereditary spastic paraplegia 3A [RCV001391396]|Inborn genetic diseases [RCV001267476] | pathogenic|likely pathogenic | 14 | 50628131 | 50628131 | Human | 2 | name |
| 127233992 | CV977103 | single nucleotide variant | NM_015915.5(ATL1):c.1065C>G (p.Asn355Lys) | Hereditary spastic paraplegia 3A [RCV001391394] | pathogenic | 14 | 50623194 | 50623194 | Human | 1 | name |
| 127234100 | CV977105 | single nucleotide variant | NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp) | Hereditary spastic paraplegia 3A [RCV001391448] | pathogenic|conflicting interpretations of pathogenicity | 14 | 50628217 | 50628217 | Human | 1 | name |
| 127234103 | CV977106 | single nucleotide variant | NM_015915.5(ATL1):c.1543T>C (p.Trp515Arg) | Hereditary spastic paraplegia 3A [RCV001391449] | pathogenic | 14 | 50628454 | 50628454 | Human | 1 | name |
| 126727757 | CV995864 | single nucleotide variant | NM_015915.5(ATL1):c.1157A>G (p.Asp386Gly) | Hereditary spastic paraplegia 3A [RCV001303229] | uncertain significance | 14 | 50628068 | 50628068 | Human | 1 | name |
| 126758924 | CV995865 | single nucleotide variant | NM_015915.5(ATL1):c.1274T>C (p.Ile425Thr) | Hereditary spastic paraplegia 3A [RCV001299340]|not provided [RCV004720840] | uncertain significance | 14 | 50628185 | 50628185 | Human | 1 | name |
| 14734637 | CV667670 | insertion | NM_015915.5(ATL1):c.1119+136_1119+137insAT | Neuropathy, hereditary sensory, type 1D [RCV001554130]|not provided [RCV000837646] | benign | 14 | 50623384 | 50623385 | Human | 1 | name |
| 8627529 | CV82673 | single nucleotide variant | NM_001127713.1(ATL1):c.794C>T (p.Ser265Phe) | Malignant melanoma [RCV000062753] | not provided | 14 | 50614443 | 50614443 | Human | | name |
| 405701198 | CV3279955 | microsatellite | NM_015915.5(ATL1):c.1614TCA[1] (p.His539del) | Inborn genetic diseases [RCV004425437] | uncertain significance | 14 | 50632275 | 50632277 | Human | | name |
| 13520340 | CV495758 | insertion | NM_015915.5(ATL1):c.781_782insA (p.Phe261fs) | Hereditary spastic paraplegia 3A [RCV000810980]|not provided [RCV000598554] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 14 | 50614430 | 50614431 | Human | 1 | name |
| 21074912 | CV798676 | microsatellite | NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) | Hereditary spastic paraplegia 3A [RCV000995703]|Hereditary spastic paraplegia [RCV001847131]|not provided [RCV002307651] | pathogenic|likely pathogenic | 14 | 50628126 | 50628128 | Human | | name |
| 8627530 | CV82674 | single nucleotide variant | NM_001127713.1(ATL1):c.1189G>A (p.Glu397Lys) | Malignant melanoma [RCV000062754] | not provided | 14 | 50628100 | 50628100 | Human | | name |
| 151713990 | CV1442995 | microsatellite | NM_015915.5(ATL1):c.1505_1506del (p.Glu502fs) | Hereditary spastic paraplegia 3A [RCV002013922] | uncertain significance | 14 | 50628413 | 50628414 | Human | | name |
| 401727680 | CV2736468 | microsatellite | NM_015915.5(ATL1):c.1465_1466dup (p.Thr490fs) | Hereditary spastic paraplegia 3A [RCV003312916] | uncertain significance | 14 | 50628373 | 50628374 | Human | | name |
| 405080598 | CV2989782 | deletion | NM_015915.5(ATL1):c.1030_1040del (p.Pro344fs) | Hereditary spastic paraplegia 3A [RCV003612879] | pathogenic | 14 | 50621879 | 50621889 | Human | 1 | name |
| 14716218 | CV667356 | insertion | NM_015915.5(ATL1):c.1552-103_1552-102insTTCTT | not provided [RCV000829654] | benign | 14 | 50629892 | 50629893 | Human | | name |
| 8558039 | CV19393 | deletion | NM_015915.5(ATL1):c.1306_1308del (p.Asn436del) | Hereditary spastic paraplegia 3A [RCV000004602]|Hereditary spastic paraplegia [RCV001847580] | pathogenic|likely pathogenic | 14 | 50628217 | 50628219 | Human | 2 | name |
| 156247662 | CV2168749 | deletion | NM_015915.5(ATL1):c.1021_1023del (p.Leu341del) | Hereditary spastic paraplegia 3A [RCV003026230] | likely pathogenic | 14 | 50621872 | 50621874 | Human | 1 | name |
| 597830930 | CV3743663 | microsatellite | NM_015915.5(ATL1):c.56_57del (p.Thr18_Tyr19insTer) | Hereditary spastic paraplegia 3A [RCV005062480] | pathogenic | 14 | 50587850 | 50587851 | Human | | name |
| 150529615 | CV1292895 | deletion | NM_015915.5(ATL1):c.1516del (p.Ala505_Val506insTer) | Hereditary spastic paraplegia 3A [RCV005094925]|not provided [RCV001756288] | pathogenic|uncertain significance | 14 | 50628427 | 50628427 | Human | 1 | name |