| 405285732 | CV3206567 | single nucleotide variant | NM_001024845.3(SLC6A9):c.-7C>T | SLC6A9-related disorder [RCV003981261] | benign | 1 | 44024284 | 44024284 | Human | | name , trait , alternate_id |
| 405265724 | CV3220805 | single nucleotide variant | NM_001024845.3(SLC6A9):c.-4C>T | SLC6A9-related disorder [RCV003968983] | likely benign | 1 | 44024281 | 44024281 | Human | | name , trait , alternate_id |
| 150433396 | CV1230512 | single nucleotide variant | NM_001024845.3(SLC6A9):c.*13G>A | not provided [RCV001643457] | benign | 1 | 43997532 | 43997532 | Human | | name |
| 150430508 | CV1230914 | single nucleotide variant | NM_001024845.3(SLC6A9):c.*47C>T | not provided [RCV001641463] | benign | 1 | 43997498 | 43997498 | Human | | name |
| 156409170 | CV1877652 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-8C>T | Atypical glycine encephalopathy [RCV003071555] | likely benign | 1 | 44010890 | 44010890 | Human | 1 | name |
| 152142470 | CV1554204 | single nucleotide variant | NM_001024845.3(SLC6A9):c.590+7C>G | Atypical glycine encephalopathy [RCV002100965] | likely benign | 1 | 44008346 | 44008346 | Human | 1 | name |
| 152167573 | CV1558121 | single nucleotide variant | NM_001024845.3(SLC6A9):c.590+9C>T | Atypical glycine encephalopathy [RCV002182205] | likely benign | 1 | 44008344 | 44008344 | Human | 1 | name |
| 156386902 | CV1891945 | single nucleotide variant | NM_001024845.3(SLC6A9):c.188-7C>G | Atypical glycine encephalopathy [RCV003067636] | uncertain significance | 1 | 44010103 | 44010103 | Human | 1 | name |
| 156378815 | CV1953770 | single nucleotide variant | NM_001024845.3(SLC6A9):c.859-6C>T | Atypical glycine encephalopathy [RCV002583021] | likely benign | 1 | 44002422 | 44002422 | Human | 1 | name |
| 156218115 | CV2028763 | single nucleotide variant | NM_001024845.3(SLC6A9):c.963-5A>C | Atypical glycine encephalopathy [RCV002712032] | likely benign | 1 | 44001632 | 44001632 | Human | 1 | name |
| 597916341 | CV3779352 | single nucleotide variant | NM_001024845.3(SLC6A9):c.187+9T>G | Atypical glycine encephalopathy [RCV005129493] | likely benign | 1 | 44010717 | 44010717 | Human | 1 | name |
| 597890287 | CV3839723 | single nucleotide variant | NM_001024845.3(SLC6A9):c.590+7C>T | Atypical glycine encephalopathy [RCV005179615] | likely benign | 1 | 44008346 | 44008346 | Human | 1 | name |
| 597916733 | CV3845846 | single nucleotide variant | NM_001024845.3(SLC6A9):c.724-7G>A | Atypical glycine encephalopathy [RCV005183641] | likely benign | 1 | 44002653 | 44002653 | Human | 1 | name |
| 598223831 | CV3892095 | single nucleotide variant | NM_001024845.3(SLC6A9):c.859-3C>A | Atypical glycine encephalopathy [RCV005253435] | uncertain significance | 1 | 44002419 | 44002419 | Human | 1 | name |
| 127243664 | CV1067342 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-700G>A | Atypical glycine encephalopathy [RCV001398431]|SLC6A9-related disorder [RCV003953716] | likely benign | 1 | 44011582 | 44011582 | Human | 1 | name , trait , alternate_id |
| 127271105 | CV1089098 | single nucleotide variant | NM_001024845.3(SLC6A9):c.859-18A>G | Atypical glycine encephalopathy [RCV001441702] | likely benign | 1 | 44002434 | 44002434 | Human | 1 | name |
| 127314774 | CV1110617 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-693C>T | Atypical glycine encephalopathy [RCV001465059] | likely benign | 1 | 44011575 | 44011575 | Human | 1 | name |
| 150514070 | CV1210844 | single nucleotide variant | NM_001024845.3(SLC6A9):c.187+46C>A | not provided [RCV001598885] | benign | 1 | 44010680 | 44010680 | Human | | name |
| 150456584 | CV1219507 | single nucleotide variant | NM_001024845.3(SLC6A9):c.319+51C>T | not provided [RCV001612722] | benign | 1 | 44009914 | 44009914 | Human | | name |
| 150474234 | CV1234415 | single nucleotide variant | NM_001024845.3(SLC6A9):c.859-33C>T | not provided [RCV001651735] | benign | 1 | 44002449 | 44002449 | Human | | name |
| 150465317 | CV1240219 | single nucleotide variant | NM_001024845.3(SLC6A9):c.963-83A>T | not provided [RCV001649980] | benign | 1 | 44001710 | 44001710 | Human | | name |
| 150510815 | CV1242512 | single nucleotide variant | NM_001024845.3(SLC6A9):c.320-41T>C | not provided [RCV001660864] | benign | 1 | 44008664 | 44008664 | Human | | name |
| 150486712 | CV1262619 | single nucleotide variant | NM_001024845.3(SLC6A9):c.723+85G>A | not provided [RCV001687016] | benign | 1 | 44002768 | 44002768 | Human | | name |
| 150511615 | CV1284738 | single nucleotide variant | NM_001024845.3(SLC6A9):c.30+134T>C | not provided [RCV001721607] | benign | 1 | 44024114 | 44024114 | Human | | name |
| 151749917 | CV1360650 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-731A>C | Atypical glycine encephalopathy [RCV001894230] | uncertain significance | 1 | 44011613 | 44011613 | Human | 1 | name |
| 151737233 | CV1364660 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-684G>T | Atypical glycine encephalopathy [RCV002021949] | uncertain significance | 1 | 44011566 | 44011566 | Human | 1 | name |
| 151852822 | CV1406693 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-717C>G | Atypical glycine encephalopathy [RCV002033401] | uncertain significance | 1 | 44011599 | 44011599 | Human | 1 | name |
| 151816763 | CV1482642 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1537-9C>G | Atypical glycine encephalopathy [RCV002049388] | likely benign|uncertain significance | 1 | 43998034 | 43998034 | Human | 1 | name |
| 151816006 | CV1484772 | single nucleotide variant | NM_001024845.3(SLC6A9):c.859-16C>T | Atypical glycine encephalopathy [RCV001975258] | likely benign | 1 | 44002432 | 44002432 | Human | 1 | name |
| 152095003 | CV1533915 | single nucleotide variant | NM_001024845.3(SLC6A9):c.859-10T>C | Atypical glycine encephalopathy [RCV002151087]|SLC6A9-related disorder [RCV003903552] | likely benign | 1 | 44002426 | 44002426 | Human | 1 | name , trait , alternate_id |
| 152163133 | CV1537616 | single nucleotide variant | NM_001024845.3(SLC6A9):c.591-16A>G | Atypical glycine encephalopathy [RCV002160000] | likely benign | 1 | 44003001 | 44003001 | Human | 1 | name |
| 152146464 | CV1600002 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1336-9G>A | Atypical glycine encephalopathy [RCV002138872] | likely benign | 1 | 44001064 | 44001064 | Human | 1 | name |
| 152030516 | CV1632193 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1537-8C>T | Atypical glycine encephalopathy [RCV002124346] | likely benign | 1 | 43998033 | 43998033 | Human | 1 | name |
| 152129053 | CV1639071 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1536+9C>T | Atypical glycine encephalopathy [RCV002155276] | likely benign | 1 | 44000758 | 44000758 | Human | 1 | name |
| 152154705 | CV1657997 | single nucleotide variant | NM_001024845.3(SLC6A9):c.319+14G>A | Atypical glycine encephalopathy [RCV002179972] | likely benign | 1 | 44009951 | 44009951 | Human | 1 | name |
| 156408567 | CV1870146 | single nucleotide variant | NM_001024845.3(SLC6A9):c.723+12T>A | Atypical glycine encephalopathy [RCV003071321] | likely benign | 1 | 44002841 | 44002841 | Human | 1 | name |
| 156383810 | CV1886705 | single nucleotide variant | NM_001024845.3(SLC6A9):c.962+13T>C | Atypical glycine encephalopathy [RCV003093511] | likely benign | 1 | 44002300 | 44002300 | Human | 1 | name |
| 156084576 | CV1898872 | single nucleotide variant | NM_001024845.3(SLC6A9):c.962+19G>T | Atypical glycine encephalopathy [RCV003079991] | likely benign | 1 | 44002294 | 44002294 | Human | 1 | name |
| 156150898 | CV1929265 | single nucleotide variant | NM_001024845.3(SLC6A9):c.723+10C>T | Atypical glycine encephalopathy [RCV002623999] | likely benign | 1 | 44002843 | 44002843 | Human | 1 | name |
| 156386988 | CV1957445 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-825G>A | Atypical glycine encephalopathy [RCV002583559] | uncertain significance | 1 | 44011707 | 44011707 | Human | 1 | name |
| 156338856 | CV1964117 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-821A>G | Atypical glycine encephalopathy [RCV002580395] | uncertain significance | 1 | 44011703 | 44011703 | Human | 1 | name |
| 156397347 | CV1980729 | single nucleotide variant | NM_001024845.3(SLC6A9):c.962+14G>T | Atypical glycine encephalopathy [RCV002605260] | likely benign | 1 | 44002299 | 44002299 | Human | 1 | name |
| 156223237 | CV2005826 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1200+5G>A | Atypical glycine encephalopathy [RCV002667305] | uncertain significance | 1 | 44001385 | 44001385 | Human | 1 | name |
| 156301562 | CV2013488 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-856G>C | Atypical glycine encephalopathy [RCV002716085] | likely benign | 1 | 44011738 | 44011738 | Human | 1 | name |
| 156099413 | CV2042113 | single nucleotide variant | NM_001024845.3(SLC6A9):c.962+13T>G | Atypical glycine encephalopathy [RCV002761259] | likely benign | 1 | 44002300 | 44002300 | Human | 1 | name |
| 155946490 | CV2072673 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-676C>G | Atypical glycine encephalopathy [RCV002862098] | uncertain significance | 1 | 44011558 | 44011558 | Human | 1 | name |
| 156358473 | CV2126254 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1708-5T>C | Atypical glycine encephalopathy [RCV002966824] | likely benign | 1 | 43997744 | 43997744 | Human | 1 | name |
| 156215058 | CV2135869 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-683C>G | Atypical glycine encephalopathy [RCV003007145] | uncertain significance | 1 | 44011565 | 44011565 | Human | 1 | name |
| 156141199 | CV2137914 | single nucleotide variant | NM_001024845.3(SLC6A9):c.187+17G>A | Atypical glycine encephalopathy [RCV002982320] | likely benign | 1 | 44010709 | 44010709 | Human | 1 | name |
| 155932268 | CV2156809 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-765G>C | Atypical glycine encephalopathy [RCV003013701] | uncertain significance | 1 | 44011647 | 44011647 | Human | 1 | name |
| 156355251 | CV2165779 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-674G>A | Atypical glycine encephalopathy [RCV003031183] | uncertain significance | 1 | 44011556 | 44011556 | Human | 1 | name |
| 156187529 | CV2395267 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-743A>G | Inborn genetic diseases [RCV002788970] | uncertain significance | 1 | 44011625 | 44011625 | Human | 1 | name |
| 401738564 | CV2738304 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1536+1G>A | Atypical glycine encephalopathy [RCV003317692] | likely pathogenic | 1 | 44000766 | 44000766 | Human | 1 | name |
| 401927670 | CV2812750 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-805G>A | not provided [RCV003406442] | likely benign | 1 | 44011687 | 44011687 | Human | | name |
| 405048446 | CV2861114 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-736C>T | Atypical glycine encephalopathy [RCV003592430] | likely benign | 1 | 44011618 | 44011618 | Human | 1 | name |
| 405049951 | CV2879438 | single nucleotide variant | NM_001024845.3(SLC6A9):c.319+13C>T | Atypical glycine encephalopathy [RCV003592751] | likely benign | 1 | 44009952 | 44009952 | Human | 1 | name |
| 405043255 | CV2926453 | single nucleotide variant | NM_001024845.3(SLC6A9):c.724-16A>G | Atypical glycine encephalopathy [RCV003592134] | likely benign | 1 | 44002662 | 44002662 | Human | 1 | name |
| 405043108 | CV2929145 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-757C>G | Atypical glycine encephalopathy [RCV003592121] | likely benign | 1 | 44011639 | 44011639 | Human | 1 | name |
| 405168453 | CV3039861 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1537-6G>T | Atypical glycine encephalopathy [RCV003757957] | likely benign | 1 | 43998031 | 43998031 | Human | 1 | name |
| 405167935 | CV3040789 | single nucleotide variant | NM_001024845.3(SLC6A9):c.963-17G>A | Atypical glycine encephalopathy [RCV003757908] | likely benign | 1 | 44001644 | 44001644 | Human | 1 | name |
| 405155874 | CV3045533 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-835G>A | Atypical glycine encephalopathy [RCV003756737] | likely benign | 1 | 44011717 | 44011717 | Human | 1 | name |
| 405159685 | CV3070924 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-682C>G | Atypical glycine encephalopathy [RCV003757075] | likely benign | 1 | 44011564 | 44011564 | Human | 1 | name |
| 405731111 | CV3322195 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-807C>A | Inborn genetic diseases [RCV004464347] | uncertain significance | 1 | 44011689 | 44011689 | Human | 1 | name |
| 597874686 | CV3747465 | single nucleotide variant | NM_001024845.3(SLC6A9):c.859-15G>A | Atypical glycine encephalopathy [RCV005069149] | likely benign | 1 | 44002431 | 44002431 | Human | 1 | name |
| 597961688 | CV3812210 | single nucleotide variant | NM_001024845.3(SLC6A9):c.320-19C>A | Atypical glycine encephalopathy [RCV005163863] | likely benign | 1 | 44008642 | 44008642 | Human | 1 | name |
| 597902558 | CV3835913 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-660C>A | Atypical glycine encephalopathy [RCV005181448] | likely benign | 1 | 44011542 | 44011542 | Human | 1 | name |
| 598172521 | CV3890843 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-734A>G | not provided [RCV005251696] | uncertain significance | 1 | 44011616 | 44011616 | Human | | name |
| 13473695 | CV448245 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1537-6G>A | Atypical glycine encephalopathy [RCV000525494] | benign | 1 | 43998031 | 43998031 | Human | 1 | name |
| 15155857 | CV707431 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-697C>G | Atypical glycine encephalopathy [RCV000969001]|not provided [RCV004714164] | benign | 1 | 44011579 | 44011579 | Human | 1 | name |
| 126731537 | CV1019391 | deletion | NM_001024845.3(SLC6A9):c.31-6241del | Atypical glycine encephalopathy [RCV001333745] | uncertain significance | 1 | 44017123 | 44017123 | Human | 1 | name |
| 127308779 | CV1153590 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1435+19G>A | Atypical glycine encephalopathy [RCV001517636] | benign | 1 | 44000937 | 44000937 | Human | 1 | name |
| 127294978 | CV1153591 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1435+18C>T | Atypical glycine encephalopathy [RCV001512000]|not provided [RCV001615183] | benign | 1 | 44000938 | 44000938 | Human | 1 | name |
| 150332652 | CV1168839 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1435+22C>T | not provided [RCV001536987] | benign | 1 | 44000934 | 44000934 | Human | | name |
| 150437255 | CV1220692 | single nucleotide variant | NM_001024845.3(SLC6A9):c.723+102G>A | not provided [RCV001609677] | benign | 1 | 44002751 | 44002751 | Human | | name |
| 150488247 | CV1237450 | duplication | NM_001024845.3(SLC6A9):c.320-100dup | not provided [RCV001654299] | benign | 1 | 44008710 | 44008711 | Human | | name |
| 150474920 | CV1271119 | single nucleotide variant | NM_001024845.3(SLC6A9):c.187+195G>C | not provided [RCV001695942] | benign | 1 | 44010531 | 44010531 | Human | | name |
| 150482861 | CV1280079 | single nucleotide variant | NM_001024845.3(SLC6A9):c.319+229A>G | not provided [RCV001715091] | benign | 1 | 44009736 | 44009736 | Human | | name |
| 150511619 | CV1284739 | single nucleotide variant | NM_001024845.3(SLC6A9):c.188-219A>G | not provided [RCV001721608] | benign | 1 | 44010315 | 44010315 | Human | | name |
| 151750315 | CV1377540 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6226C>T | Atypical glycine encephalopathy [RCV001948075] | uncertain significance | 1 | 44017108 | 44017108 | Human | 1 | name |
| 151801199 | CV1378736 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6217G>A | Atypical glycine encephalopathy [RCV001877388]|Inborn genetic diseases [RCV002552740] | likely benign|uncertain significance | 1 | 44017099 | 44017099 | Human | 2 | name |
| 151825670 | CV1396059 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1335+11C>T | Atypical glycine encephalopathy [RCV001934564] | likely benign | 1 | 44001153 | 44001153 | Human | 1 | name |
| 151768588 | CV1471735 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6191C>T | Atypical glycine encephalopathy [RCV002008627] | uncertain significance | 1 | 44017073 | 44017073 | Human | 1 | name |
| 151734237 | CV1501063 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6164G>C | Atypical glycine encephalopathy [RCV002005098] | likely pathogenic | 1 | 44017046 | 44017046 | Human | 1 | name |
| 152168345 | CV1558640 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6201G>A | Atypical glycine encephalopathy [RCV002142410] | likely benign | 1 | 44017083 | 44017083 | Human | 1 | name |
| 152066016 | CV1565044 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1435+10C>T | Atypical glycine encephalopathy [RCV002090929] | likely benign | 1 | 44000946 | 44000946 | Human | 1 | name |
| 152155709 | CV1572907 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1537-17A>G | Atypical glycine encephalopathy [RCV002180092] | benign | 1 | 43998042 | 43998042 | Human | 1 | name |
| 152121197 | CV1574422 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6222C>T | Atypical glycine encephalopathy [RCV002175602] | likely benign | 1 | 44017104 | 44017104 | Human | 1 | name |
| 152127627 | CV1581152 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6195T>C | Atypical glycine encephalopathy [RCV002099040] | likely benign | 1 | 44017077 | 44017077 | Human | 1 | name |
| 152068968 | CV1613839 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1200+17G>A | Atypical glycine encephalopathy [RCV002074835] | likely benign | 1 | 44001373 | 44001373 | Human | 1 | name |
| 152149802 | CV1625601 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6225G>A | Atypical glycine encephalopathy [RCV002139344] | likely benign | 1 | 44017107 | 44017107 | Human | 1 | name |
| 152115173 | CV1637140 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1336-12G>A | Atypical glycine encephalopathy [RCV002216033] | likely benign | 1 | 44001067 | 44001067 | Human | 1 | name |
| 152074214 | CV1638148 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6225G>T | Atypical glycine encephalopathy [RCV002192199] | likely benign | 1 | 44017107 | 44017107 | Human | 1 | name |
| 156386483 | CV1875015 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1435+19G>T | Atypical glycine encephalopathy [RCV003050902] | likely benign | 1 | 44000937 | 44000937 | Human | 1 | name |
| 156241057 | CV1882452 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6245G>A | Atypical glycine encephalopathy [RCV003085744] | likely benign | 1 | 44017127 | 44017127 | Human | 1 | name |
| 156328062 | CV1887456 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6212A>G | Atypical glycine encephalopathy [RCV003089618] | uncertain significance | 1 | 44017094 | 44017094 | Human | 1 | name |
| 156405320 | CV1893757 | duplication | NM_001024845.3(SLC6A9):c.1436-11dup | Atypical glycine encephalopathy [RCV003069984] | benign | 1 | 44000877 | 44000878 | Human | 1 | name |
| 156417098 | CV1919401 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1200+16C>T | Atypical glycine encephalopathy [RCV002610530] | likely benign | 1 | 44001374 | 44001374 | Human | 1 | name |
| 156370286 | CV1923473 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6234G>A | Atypical glycine encephalopathy [RCV002633330] | likely benign | 1 | 44017116 | 44017116 | Human | 1 | name |
| 156293523 | CV1926209 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1537-16C>T | Atypical glycine encephalopathy [RCV002647300] | likely benign | 1 | 43998041 | 43998041 | Human | 1 | name |
| 156393911 | CV1934191 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1335+12G>A | Atypical glycine encephalopathy [RCV002654678] | likely benign | 1 | 44001152 | 44001152 | Human | 1 | name |
| 156442371 | CV1938597 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6221G>A | Atypical glycine encephalopathy [RCV003112712] | uncertain significance | 1 | 44017103 | 44017103 | Human | 1 | name |
| 156167592 | CV1971588 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1335+16G>A | Atypical glycine encephalopathy [RCV002594672] | likely benign | 1 | 44001148 | 44001148 | Human | 1 | name |
| 156130492 | CV1977013 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6218C>T | Atypical glycine encephalopathy [RCV002593477] | uncertain significance | 1 | 44017100 | 44017100 | Human | 1 | name |
| 156019932 | CV2118528 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6243C>T | Atypical glycine encephalopathy [RCV002948723] | likely benign | 1 | 44017125 | 44017125 | Human | 1 | name |
| 156103179 | CV2164495 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6206G>A | Atypical glycine encephalopathy [RCV003038660] | uncertain significance | 1 | 44017088 | 44017088 | Human | 1 | name |
| 401875094 | CV2791079 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6224A>G | Inborn genetic diseases [RCV003362555] | uncertain significance | 1 | 44017106 | 44017106 | Human | 1 | name |
| 405161585 | CV2944401 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6157A>G | Atypical glycine encephalopathy [RCV003757322] | likely benign | 1 | 44017039 | 44017039 | Human | 1 | name |
| 405165279 | CV3003475 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1537-14C>T | Atypical glycine encephalopathy [RCV003757652] | likely benign | 1 | 43998039 | 43998039 | Human | 1 | name |
| 405093506 | CV3164154 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1200+17G>T | Atypical glycine encephalopathy [RCV003852469] | likely benign | 1 | 44001373 | 44001373 | Human | 1 | name |
| 597627452 | CV3606684 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6232G>A | Inborn genetic diseases [RCV004966488] | uncertain significance | 1 | 44017114 | 44017114 | Human | 1 | name |
| 597627455 | CV3606685 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6233C>T | Inborn genetic diseases [RCV004966489] | uncertain significance | 1 | 44017115 | 44017115 | Human | 1 | name |
| 598259941 | CV3921983 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6178C>T | Inborn genetic diseases [RCV005279686] | uncertain significance | 1 | 44017060 | 44017060 | Human | 1 | name |
| 126729890 | CV985922 | single nucleotide variant | NM_001024845.3(SLC6A9):c.31-6251A>G | Atypical glycine encephalopathy [RCV002922823] | pathogenic|uncertain significance | 1 | 44017133 | 44017133 | Human | 1 | name |
| 150491630 | CV1239310 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1537-191A>G | not provided [RCV001654878] | benign | 1 | 43998216 | 43998216 | Human | | name |
| 150503361 | CV1212467 | microsatellite | NM_001024845.3(SLC6A9):c.31-6526GT[18] | not provided [RCV001595342] | benign | 1 | 44017369 | 44017372 | Human | | name |
| 150514403 | CV1228202 | microsatellite | NM_001024845.3(SLC6A9):c.31-6526GT[16] | not provided [RCV001638480] | benign | 1 | 44017369 | 44017376 | Human | | name |
| 150510636 | CV1229202 | microsatellite | NM_001024845.3(SLC6A9):c.31-6526GT[17] | not provided [RCV001637129] | benign | 1 | 44017369 | 44017374 | Human | | name |
| 150430661 | CV1243418 | microsatellite | NM_001024845.3(SLC6A9):c.31-6526GT[15] | not provided [RCV001663036] | benign | 1 | 44017369 | 44017378 | Human | | name |
| 150470869 | CV1258682 | microsatellite | NM_001024845.3(SLC6A9):c.31-6526GT[19] | not provided [RCV001684228] | benign | 1 | 44017369 | 44017370 | Human | | name |
| 408368453 | CV3500647 | duplication | NM_001024845.3(SLC6A9):c.1537-1_1538dup | Atypical glycine encephalopathy [RCV004723724] | uncertain significance | 1 | 43998023 | 43998024 | Human | 1 | name |
| 150501883 | CV1241065 | deletion | NM_001024845.3(SLC6A9):c.320-83_320-65del | not provided [RCV001656961] | benign | 1 | 44008688 | 44008706 | Human | | name |
| 401867353 | CV2748885 | microsatellite | NM_001024845.3(SLC6A9):c.31-764_31-763del | Atypical glycine encephalopathy [RCV003331707] | pathogenic | 1 | 44011645 | 44011646 | Human | | name |
| 597868437 | CV3787358 | single nucleotide variant | NM_001024845.3(SLC6A9):c.54C>G (p.Ala18=) | Atypical glycine encephalopathy [RCV005122243] | likely benign | 1 | 44010859 | 44010859 | Human | 1 | name |
| 597945478 | CV3807346 | single nucleotide variant | NM_001024845.3(SLC6A9):c.84C>A (p.Gly28=) | Atypical glycine encephalopathy [RCV005159981] | likely benign | 1 | 44010829 | 44010829 | Human | 1 | name |
| 151760718 | CV1358037 | single nucleotide variant | NM_001024845.3(SLC6A9):c.189C>T (p.Gly63=) | Atypical glycine encephalopathy [RCV001928479] | likely benign|uncertain significance | 1 | 44010095 | 44010095 | Human | 1 | name |
| 152041940 | CV1603328 | single nucleotide variant | NM_001024845.3(SLC6A9):c.219C>T (p.Leu73=) | Atypical glycine encephalopathy [RCV002071135] | likely benign | 1 | 44010065 | 44010065 | Human | 1 | name |
| 156317615 | CV1879758 | single nucleotide variant | NM_001024845.3(SLC6A9):c.132C>T (p.Ala44=) | Atypical glycine encephalopathy [RCV003062851] | likely benign | 1 | 44010781 | 44010781 | Human | 1 | name |
| 156364851 | CV1897266 | single nucleotide variant | NM_001024845.3(SLC6A9):c.261C>T (p.Phe87=) | Atypical glycine encephalopathy [RCV002581989] | likely benign | 1 | 44010023 | 44010023 | Human | 1 | name |
| 156296596 | CV2065350 | single nucleotide variant | NM_001024845.3(SLC6A9):c.144C>G (p.Gly48=) | Atypical glycine encephalopathy [RCV002856969] | likely benign | 1 | 44010769 | 44010769 | Human | 1 | name |
| 597834948 | CV3760869 | single nucleotide variant | NM_001024845.3(SLC6A9):c.207C>T (p.Tyr69=) | Atypical glycine encephalopathy [RCV005085420] | likely benign | 1 | 44010077 | 44010077 | Human | 1 | name |
| 15178104 | CV718982 | single nucleotide variant | NM_001024845.3(SLC6A9):c.120C>T (p.Ser40=) | Atypical glycine encephalopathy [RCV000884982] | likely benign | 1 | 44010793 | 44010793 | Human | 1 | name |
| 15193814 | CV746514 | single nucleotide variant | NM_001024845.3(SLC6A9):c.273A>T (p.Ala91=) | Atypical glycine encephalopathy [RCV002065800] | likely benign | 1 | 44010011 | 44010011 | Human | 1 | name |
| 15178069 | CV761961 | single nucleotide variant | NM_001024845.3(SLC6A9):c.228C>T (p.Cys76=) | not provided [RCV000929306] | likely benign | 1 | 44010056 | 44010056 | Human | | name |
| 127318146 | CV1153592 | single nucleotide variant | NM_001024845.3(SLC6A9):c.807C>T (p.Asp269=) | Atypical glycine encephalopathy [RCV001521524]|SLC6A9-related disorder [RCV003980606]|not provided [RCV001536255] | benign | 1 | 44002563 | 44002563 | Human | 1 | name , trait , alternate_id |
| 152158127 | CV1541928 | single nucleotide variant | NM_001024845.3(SLC6A9):c.915C>T (p.Gly305=) | Atypical glycine encephalopathy [RCV002103267] | likely benign | 1 | 44002360 | 44002360 | Human | 1 | name |
| 152031590 | CV1548767 | single nucleotide variant | NM_001024845.3(SLC6A9):c.357C>T (p.Ile119=) | Atypical glycine encephalopathy [RCV002086403] | likely benign | 1 | 44008586 | 44008586 | Human | 1 | name |
| 152150749 | CV1559540 | single nucleotide variant | NM_001024845.3(SLC6A9):c.753C>T (p.Tyr251=) | Atypical glycine encephalopathy [RCV002220775] | likely benign | 1 | 44002617 | 44002617 | Human | 1 | name |
| 152106242 | CV1609608 | deletion | NM_001024845.3(SLC6A9):c.1536+11_1536+30del | Atypical glycine encephalopathy [RCV002115968] | benign | 1 | 44000737 | 44000756 | Human | 1 | name |
| 152155289 | CV1620341 | single nucleotide variant | NM_001024845.3(SLC6A9):c.918C>T (p.Leu306=) | Atypical glycine encephalopathy [RCV002122335]|not provided [RCV003408124] | likely benign | 1 | 44002357 | 44002357 | Human | 1 | name |
| 152095904 | CV1627818 | single nucleotide variant | NM_001024845.3(SLC6A9):c.762G>C (p.Leu254=) | Atypical glycine encephalopathy [RCV002194914] | likely benign | 1 | 44002608 | 44002608 | Human | 1 | name |
| 152078609 | CV1632126 | single nucleotide variant | NM_001024845.3(SLC6A9):c.828C>T (p.Thr276=) | Atypical glycine encephalopathy [RCV002130551] | likely benign | 1 | 44002542 | 44002542 | Human | 1 | name |
| 152073179 | CV1637959 | single nucleotide variant | NM_001024845.3(SLC6A9):c.501T>C (p.Asn167=) | Atypical glycine encephalopathy [RCV002192064]|not provided [RCV004711752] | likely benign | 1 | 44008442 | 44008442 | Human | 1 | name |
| 152134373 | CV1645941 | single nucleotide variant | NM_001024845.3(SLC6A9):c.645G>A (p.Leu215=) | Atypical glycine encephalopathy [RCV002177227] | likely benign | 1 | 44002931 | 44002931 | Human | 1 | name |
| 155958313 | CV1903880 | single nucleotide variant | NM_001024845.3(SLC6A9):c.780C>T (p.Arg260=) | Atypical glycine encephalopathy [RCV003095708] | likely benign | 1 | 44002590 | 44002590 | Human | 1 | name |
| 156413742 | CV1905422 | single nucleotide variant | NM_001024845.3(SLC6A9):c.990C>T (p.Asn330=) | Atypical glycine encephalopathy [RCV003073423] | likely benign | 1 | 44001600 | 44001600 | Human | 1 | name |
| 156248792 | CV2097943 | single nucleotide variant | NM_001024845.3(SLC6A9):c.690C>T (p.Leu230=) | Atypical glycine encephalopathy [RCV002895187] | likely benign | 1 | 44002886 | 44002886 | Human | 1 | name |
| 156339680 | CV2106827 | single nucleotide variant | NM_001024845.3(SLC6A9):c.408G>A (p.Ser136=) | Atypical glycine encephalopathy [RCV002938828] | likely benign | 1 | 44008535 | 44008535 | Human | 1 | name |
| 156205983 | CV2131251 | single nucleotide variant | NM_001024845.3(SLC6A9):c.744G>A (p.Thr248=) | Atypical glycine encephalopathy [RCV002985399] | likely benign | 1 | 44002626 | 44002626 | Human | 1 | name |
| 155952153 | CV2133301 | single nucleotide variant | NM_001024845.3(SLC6A9):c.573C>T (p.Pro191=) | Atypical glycine encephalopathy [RCV002994694] | likely benign | 1 | 44008370 | 44008370 | Human | 1 | name |
| 401927667 | CV2812749 | single nucleotide variant | NM_001024845.3(SLC6A9):c.483C>T (p.Asp161=) | not provided [RCV003406441] | likely benign | 1 | 44008460 | 44008460 | Human | | name |
| 405050192 | CV2872662 | single nucleotide variant | NM_001024845.3(SLC6A9):c.903C>T (p.Cys301=) | Atypical glycine encephalopathy [RCV003592774] | likely benign | 1 | 44002372 | 44002372 | Human | 1 | name |
| 405167832 | CV3040384 | single nucleotide variant | NM_001024845.3(SLC6A9):c.450C>G (p.Pro150=) | Atypical glycine encephalopathy [RCV003757899] | likely benign | 1 | 44008493 | 44008493 | Human | 1 | name |
| 405169282 | CV3046892 | single nucleotide variant | NM_001024845.3(SLC6A9):c.49G>A (p.Glu17Lys) | Atypical glycine encephalopathy [RCV003758037] | uncertain significance | 1 | 44010864 | 44010864 | Human | 1 | name |
| 405259407 | CV3194776 | single nucleotide variant | NM_001024845.3(SLC6A9):c.516C>T (p.Ala172=) | Atypical glycine encephalopathy [RCV005101550]|SLC6A9-related disorder [RCV003894165] | likely benign | 1 | 44008427 | 44008427 | Human | 1 | name , trait , alternate_id |
| 405267934 | CV3198788 | single nucleotide variant | NM_001024845.3(SLC6A9):c.417G>A (p.Thr139=) | SLC6A9-related disorder [RCV003911911] | likely benign | 1 | 44008526 | 44008526 | Human | | name , trait , alternate_id |
| 596926922 | CV3532450 | deletion | NM_001024845.3(SLC6A9):c.31-6253_31-6249del | not provided [RCV004778547] | uncertain significance | 1 | 44017131 | 44017135 | Human | | name |
| 597873246 | CV3747304 | single nucleotide variant | NM_001024845.3(SLC6A9):c.387C>T (p.Ile129=) | Atypical glycine encephalopathy [RCV005068988] | likely benign | 1 | 44008556 | 44008556 | Human | 1 | name |
| 597945144 | CV3755308 | single nucleotide variant | NM_001024845.3(SLC6A9):c.417G>T (p.Thr139=) | Atypical glycine encephalopathy [RCV005078317] | likely benign | 1 | 44008526 | 44008526 | Human | 1 | name |
| 597939111 | CV3775267 | single nucleotide variant | NM_001024845.3(SLC6A9):c.700C>A (p.Arg234=) | Atypical glycine encephalopathy [RCV005118093] | likely benign | 1 | 44002876 | 44002876 | Human | 1 | name |
| 597968404 | CV3794997 | single nucleotide variant | NM_001024845.3(SLC6A9):c.705G>A (p.Gly235=) | Atypical glycine encephalopathy [RCV005140965] | likely benign | 1 | 44002871 | 44002871 | Human | 1 | name |
| 13476569 | CV447915 | single nucleotide variant | NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=) | Atypical glycine encephalopathy [RCV000549225]|not provided [RCV004714080] | benign | 1 | 44002315 | 44002315 | Human | 1 | name |
| 15182823 | CV707425 | single nucleotide variant | NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=) | Atypical glycine encephalopathy [RCV000974729] | benign | 1 | 44002871 | 44002871 | Human | 1 | name |
| 15143916 | CV707426 | single nucleotide variant | NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=) | Atypical glycine encephalopathy [RCV000966750] | benign | 1 | 44002922 | 44002922 | Human | 1 | name |
| 15141937 | CV707427 | single nucleotide variant | NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=) | Atypical glycine encephalopathy [RCV000966392]|SLC6A9-related disorder [RCV003936016]|not provided [RCV001815464]|not specified [RCV005418933] | likely benign | 1 | 44008415 | 44008415 | Human | 1 | name , trait , alternate_id |
| 15164239 | CV707429 | single nucleotide variant | NM_001024845.3(SLC6A9):c.489C>G (p.Ser163=) | Atypical glycine encephalopathy [RCV002066420] | likely benign | 1 | 44008454 | 44008454 | Human | 1 | name |
| 15186609 | CV732486 | single nucleotide variant | NM_001024845.3(SLC6A9):c.468C>T (p.Cys156=) | Atypical glycine encephalopathy [RCV000908854] | likely benign | 1 | 44008475 | 44008475 | Human | 1 | name |
| 15170732 | CV746512 | single nucleotide variant | NM_001024845.3(SLC6A9):c.930T>C (p.Ala310=) | Atypical glycine encephalopathy [RCV002544401] | likely benign | 1 | 44002345 | 44002345 | Human | 1 | name |
| 15198704 | CV746513 | single nucleotide variant | NM_001024845.3(SLC6A9):c.729G>A (p.Val243=) | Atypical glycine encephalopathy [RCV002542124] | likely benign | 1 | 44002641 | 44002641 | Human | 1 | name |
| 26918506 | CV824138 | single nucleotide variant | NM_001024845.3(SLC6A9):c.64G>A (p.Asp22Asn) | Atypical glycine encephalopathy [RCV001057997] | uncertain significance | 1 | 44010849 | 44010849 | Human | 1 | name |
| 127242746 | CV1089097 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1017C>T (p.Phe339=) | Atypical glycine encephalopathy [RCV001423805]|not provided [RCV004711616] | likely benign | 1 | 44001573 | 44001573 | Human | 1 | name |
| 150458266 | CV1226196 | single nucleotide variant | NM_001024845.3(SLC6A9):c.235C>T (p.Pro79Ser) | Atypical glycine encephalopathy [RCV001638193] | likely pathogenic | 1 | 44010049 | 44010049 | Human | 1 | name |
| 151890813 | CV1353810 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1119G>A (p.Glu373=) | Atypical glycine encephalopathy [RCV001963749] | likely benign|uncertain significance | 1 | 44001471 | 44001471 | Human | 1 | name |
| 151822568 | CV1466126 | single nucleotide variant | NM_001024845.3(SLC6A9):c.229G>A (p.Gly77Arg) | Atypical glycine encephalopathy [RCV001879356]|not provided [RCV005369994] | uncertain significance | 1 | 44010055 | 44010055 | Human | 1 | name |
| 151710989 | CV1500922 | single nucleotide variant | NM_001024845.3(SLC6A9):c.116C>T (p.Thr39Met) | Atypical glycine encephalopathy [RCV002001961] | uncertain significance | 1 | 44010797 | 44010797 | Human | 1 | name |
| 152073350 | CV1551825 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1572G>A (p.Pro524=) | Atypical glycine encephalopathy [RCV002075399] | likely benign | 1 | 43997990 | 43997990 | Human | 1 | name |
| 152128755 | CV1554458 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1035C>T (p.Leu345=) | Atypical glycine encephalopathy [RCV002176511] | likely benign | 1 | 44001555 | 44001555 | Human | 1 | name |
| 152122305 | CV1554866 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1815C>T (p.Phe605=) | Atypical glycine encephalopathy [RCV002198221] | likely benign | 1 | 43997632 | 43997632 | Human | 1 | name |
| 152161364 | CV1555369 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1290C>T (p.Gly430=) | Atypical glycine encephalopathy [RCV002103859]|not provided [RCV003408121]|not specified [RCV005419352] | likely benign | 1 | 44001209 | 44001209 | Human | 1 | name |
| 152104411 | CV1570172 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1086C>T (p.His362=) | Atypical glycine encephalopathy [RCV002195961] | likely benign | 1 | 44001504 | 44001504 | Human | 1 | name |
| 152107026 | CV1577781 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1096C>T (p.Leu366=) | Atypical glycine encephalopathy [RCV002096314] | likely benign | 1 | 44001494 | 44001494 | Human | 1 | name |
| 152061200 | CV1585122 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1104C>T (p.Phe368=) | Atypical glycine encephalopathy [RCV002073698]|SLC6A9-related disorder [RCV003911319] | likely benign | 1 | 44001486 | 44001486 | Human | 1 | name , trait , alternate_id |
| 152046702 | CV1591284 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1218G>A (p.Thr406=) | Atypical glycine encephalopathy [RCV002188907] | likely benign | 1 | 44001281 | 44001281 | Human | 1 | name |
| 152045571 | CV1600157 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1311G>C (p.Leu437=) | Atypical glycine encephalopathy [RCV002088511] | likely benign | 1 | 44001188 | 44001188 | Human | 1 | name |
| 152162043 | CV1608736 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1845G>A (p.Ala615=) | Atypical glycine encephalopathy [RCV002103983] | likely benign | 1 | 43997602 | 43997602 | Human | 1 | name |
| 152083173 | CV1655065 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1245G>A (p.Val415=) | Atypical glycine encephalopathy [RCV002113034] | likely benign | 1 | 44001254 | 44001254 | Human | 1 | name |
| 155798898 | CV1684049 | single nucleotide variant | NM_001024845.3(SLC6A9):c.250G>A (p.Glu84Lys) | Atypical glycine encephalopathy [RCV002464549] | uncertain significance | 1 | 44010034 | 44010034 | Human | 1 | name |
| 155948224 | CV1869113 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1656C>T (p.Pro552=) | Atypical glycine encephalopathy [RCV003073987] | likely benign | 1 | 43997906 | 43997906 | Human | 1 | name |
| 156156043 | CV1875463 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1875C>T (p.Ser625=) | Atypical glycine encephalopathy [RCV003056716] | benign | 1 | 43997572 | 43997572 | Human | 1 | name |
| 156055043 | CV1924093 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1809C>T (p.Asp603=) | Atypical glycine encephalopathy [RCV002638077] | likely benign | 1 | 43997638 | 43997638 | Human | 1 | name |
| 156396991 | CV1959123 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1860G>T (p.Val620=) | Atypical glycine encephalopathy [RCV002584460] | likely benign | 1 | 43997587 | 43997587 | Human | 1 | name |
| 156116115 | CV2016929 | single nucleotide variant | NM_001024845.3(SLC6A9):c.220A>G (p.Ile74Val) | Atypical glycine encephalopathy [RCV002740019] | uncertain significance | 1 | 44010064 | 44010064 | Human | 1 | name |
| 156149931 | CV2023006 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1182G>A (p.Leu394=) | Atypical glycine encephalopathy [RCV002741190] | likely benign | 1 | 44001408 | 44001408 | Human | 1 | name |
| 156211426 | CV2103319 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1176T>C (p.Leu392=) | Atypical glycine encephalopathy [RCV002918177] | likely benign | 1 | 44001414 | 44001414 | Human | 1 | name |
| 156328446 | CV2116244 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1002C>T (p.Ser334=) | Atypical glycine encephalopathy [RCV002938225] | likely benign | 1 | 44001588 | 44001588 | Human | 1 | name |
| 156019903 | CV2118527 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1524C>T (p.Pro508=) | Atypical glycine encephalopathy [RCV002948722] | likely benign | 1 | 44000779 | 44000779 | Human | 1 | name |
| 155939510 | CV2119718 | single nucleotide variant | NM_001024845.3(SLC6A9):c.133G>A (p.Val45Met) | Atypical glycine encephalopathy [RCV002971185] | uncertain significance | 1 | 44010780 | 44010780 | Human | 1 | name |
| 156012164 | CV2124673 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1227A>G (p.Thr409=) | Atypical glycine encephalopathy [RCV002948330] | likely benign | 1 | 44001272 | 44001272 | Human | 1 | name |
| 155934329 | CV2129397 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1434C>T (p.Tyr478=) | Atypical glycine encephalopathy [RCV002970824] | uncertain significance | 1 | 44000957 | 44000957 | Human | 1 | name |
| 156076859 | CV2251410 | single nucleotide variant | NM_001024845.3(SLC6A9):c.262G>A (p.Gly88Ser) | Inborn genetic diseases [RCV002797717] | uncertain significance | 1 | 44010022 | 44010022 | Human | 1 | name |
| 401761413 | CV2699300 | single nucleotide variant | NM_001024845.3(SLC6A9):c.249G>A (p.Met83Ile) | Inborn genetic diseases [RCV003280862] | uncertain significance | 1 | 44010035 | 44010035 | Human | 1 | name |
| 405161989 | CV2949249 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1887G>A (p.Gln629=) | Atypical glycine encephalopathy [RCV003757356] | likely benign | 1 | 43997560 | 43997560 | Human | 1 | name |
| 405163113 | CV2968100 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1785C>T (p.Pro595=) | Atypical glycine encephalopathy [RCV003757453] | likely benign | 1 | 43997662 | 43997662 | Human | 1 | name |
| 405163554 | CV2970148 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1053C>T (p.His351=) | Atypical glycine encephalopathy [RCV003757492] | likely benign | 1 | 44001537 | 44001537 | Human | 1 | name |
| 405159173 | CV3066545 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1437G>C (p.Gly479=) | Atypical glycine encephalopathy [RCV003757033] | likely benign | 1 | 44000866 | 44000866 | Human | 1 | name |
| 402506430 | CV3181662 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1380C>T (p.Ser460=) | Atypical glycine encephalopathy [RCV003878496] | likely benign | 1 | 44001011 | 44001011 | Human | 1 | name |
| 405731151 | CV3322200 | single nucleotide variant | NM_001024845.3(SLC6A9):c.181G>A (p.Gly61Arg) | Inborn genetic diseases [RCV004464352] | uncertain significance | 1 | 44010732 | 44010732 | Human | 1 | name |
| 407427859 | CV3412157 | single nucleotide variant | NM_001024845.3(SLC6A9):c.292G>T (p.Val98Phe) | not provided [RCV004592328] | uncertain significance | 1 | 44009992 | 44009992 | Human | | name |
| 596926221 | CV3536166 | single nucleotide variant | NM_001024845.3(SLC6A9):c.154C>T (p.Arg52Cys) | Atypical glycine encephalopathy [RCV004788596] | uncertain significance | 1 | 44010759 | 44010759 | Human | 1 | name |
| 596947795 | CV3547378 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1869T>C (p.Asn623=) | Atypical glycine encephalopathy [RCV005105226]|not provided [RCV004811682] | likely benign | 1 | 43997578 | 43997578 | Human | 1 | name |
| 597627462 | CV3606688 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1515C>T (p.Phe505=) | Inborn genetic diseases [RCV004966492] | likely benign | 1 | 44000788 | 44000788 | Human | 1 | name |
| 597972599 | CV3790407 | duplication | NM_001024845.3(SLC6A9):c.941dup (p.Phe315fs) | Atypical glycine encephalopathy [RCV005142830] | pathogenic | 1 | 44002333 | 44002334 | Human | 1 | name |
| 597919399 | CV3811643 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1137C>T (p.Pro379=) | Atypical glycine encephalopathy [RCV005155474] | likely benign | 1 | 44001453 | 44001453 | Human | 1 | name |
| 597964626 | CV3837747 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1836G>A (p.Pro612=) | Atypical glycine encephalopathy [RCV005193729] | likely benign | 1 | 43997611 | 43997611 | Human | 1 | name |
| 597953769 | CV3844260 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1756C>T (p.Leu586=) | Atypical glycine encephalopathy [RCV005190932] | likely benign | 1 | 43997691 | 43997691 | Human | 1 | name |
| 597893008 | CV3856810 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1506C>T (p.Cys502=) | Atypical glycine encephalopathy [RCV005200879] | likely benign | 1 | 44000797 | 44000797 | Human | 1 | name |
| 597931253 | CV3863194 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1392G>T (p.Val464=) | Atypical glycine encephalopathy [RCV005206720] | likely benign | 1 | 44000999 | 44000999 | Human | 1 | name |
| 598172513 | CV3890842 | single nucleotide variant | NM_001024845.3(SLC6A9):c.222C>G (p.Ile74Met) | not provided [RCV005251695] | uncertain significance | 1 | 44010062 | 44010062 | Human | | name |
| 13462685 | CV439366 | single nucleotide variant | NM_001024845.3(SLC6A9):c.290G>A (p.Gly97Glu) | not provided [RCV000514614] | likely pathogenic | 1 | 44009994 | 44009994 | Human | | name |
| 15189063 | CV696764 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=) | Atypical glycine encephalopathy [RCV000954065]|not provided [RCV003311924] | benign | 1 | 44001444 | 44001444 | Human | 1 | name |
| 15164420 | CV707424 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1641C>T (p.Ser547=) | Atypical glycine encephalopathy [RCV001519026] | benign | 1 | 43997921 | 43997921 | Human | 1 | name |
| 15193260 | CV718980 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1866T>C (p.Ser622=) | Atypical glycine encephalopathy [RCV002065547] | benign | 1 | 43997581 | 43997581 | Human | 1 | name |
| 15193019 | CV732485 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=) | Atypical glycine encephalopathy [RCV000910718]|SLC6A9-related disorder [RCV003923143]|not provided [RCV002510999] | likely benign | 1 | 43997909 | 43997909 | Human | 1 | name , trait , alternate_id |
| 15197480 | CV746508 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1662C>T (p.Tyr554=) | Atypical glycine encephalopathy [RCV002065817] | likely benign | 1 | 43997900 | 43997900 | Human | 1 | name |
| 15132436 | CV746509 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1620C>G (p.Gly540=) | Atypical glycine encephalopathy [RCV002544943] | likely benign | 1 | 43997942 | 43997942 | Human | 1 | name |
| 15128459 | CV746510 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1543C>T (p.Leu515=) | Atypical glycine encephalopathy [RCV003591802] | likely benign | 1 | 43998019 | 43998019 | Human | 1 | name |
| 15111213 | CV746511 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1374G>A (p.Ala458=) | Atypical glycine encephalopathy [RCV002065893] | likely benign | 1 | 44001017 | 44001017 | Human | 1 | name |
| 15112215 | CV761959 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1116C>T (p.Pro372=) | Atypical glycine encephalopathy [RCV002066174] | likely benign | 1 | 44001474 | 44001474 | Human | 1 | name |
| 15136518 | CV761960 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1038C>T (p.Gly346=) | not provided [RCV000943090] | likely benign | 1 | 44001552 | 44001552 | Human | | name |
| 126735297 | CV987615 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1602C>T (p.Gly534=) | Atypical glycine encephalopathy [RCV001304578] | uncertain significance | 1 | 43997960 | 43997960 | Human | 1 | name |
| 126731533 | CV1019389 | single nucleotide variant | NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln) | Atypical glycine encephalopathy [RCV001333744] | uncertain significance | 1 | 44002313 | 44002313 | Human | 1 | name |
| 126731539 | CV1019390 | single nucleotide variant | NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu) | Atypical glycine encephalopathy [RCV001333746]|Inborn genetic diseases [RCV004968047] | uncertain significance | 1 | 44008536 | 44008536 | Human | 2 | name |
| 127336592 | CV1131498 | single nucleotide variant | NM_001024845.3(SLC6A9):c.398A>T (p.Tyr133Phe) | Atypical glycine encephalopathy [RCV001492274] | likely benign | 1 | 44008545 | 44008545 | Human | 1 | name |
| 151757743 | CV1361488 | single nucleotide variant | NM_001024845.3(SLC6A9):c.641G>T (p.Arg214Leu) | Atypical glycine encephalopathy [RCV001928157] | uncertain significance | 1 | 44002935 | 44002935 | Human | 1 | name |
| 151878644 | CV1409907 | single nucleotide variant | NM_001024845.3(SLC6A9):c.774T>A (p.Phe258Leu) | Atypical glycine encephalopathy [RCV001940714] | uncertain significance | 1 | 44002596 | 44002596 | Human | 1 | name |
| 151774886 | CV1420058 | single nucleotide variant | NM_001024845.3(SLC6A9):c.484G>T (p.Ala162Ser) | Atypical glycine encephalopathy [RCV002009196] | uncertain significance | 1 | 44008459 | 44008459 | Human | 1 | name |
| 151848744 | CV1431004 | single nucleotide variant | NM_001024845.3(SLC6A9):c.793G>A (p.Glu265Lys) | Atypical glycine encephalopathy [RCV001922485] | uncertain significance | 1 | 44002577 | 44002577 | Human | 1 | name |
| 151743063 | CV1466719 | single nucleotide variant | NM_001024845.3(SLC6A9):c.508C>G (p.Arg170Gly) | Atypical glycine encephalopathy [RCV001871208] | uncertain significance | 1 | 44008435 | 44008435 | Human | 1 | name |
| 151719522 | CV1505877 | single nucleotide variant | NM_001024845.3(SLC6A9):c.490A>C (p.Asn164His) | Atypical glycine encephalopathy [RCV002039863]|Inborn genetic diseases [RCV002545737] | uncertain significance | 1 | 44008453 | 44008453 | Human | 2 | name |
| 9687174 | CV171326 | single nucleotide variant | NM_001024845.3(SLC6A9):c.577G>A (p.Glu193Lys) | Atypical glycine encephalopathy [RCV002516004]|Prostate cancer [RCV000149393] | pathogenic|uncertain significance | 1 | 44008366 | 44008366 | Human | 3 | name |
| 156289943 | CV1881745 | single nucleotide variant | NM_001024845.3(SLC6A9):c.329A>G (p.Tyr110Cys) | Atypical glycine encephalopathy [RCV003061411] | uncertain significance | 1 | 44008614 | 44008614 | Human | 1 | name |
| 156359030 | CV1891437 | single nucleotide variant | NM_001024845.3(SLC6A9):c.492C>A (p.Asn164Lys) | Atypical glycine encephalopathy [RCV003091572] | uncertain significance | 1 | 44008451 | 44008451 | Human | 1 | name |
| 156354131 | CV1894592 | single nucleotide variant | NM_001024845.3(SLC6A9):c.579G>C (p.Glu193Asp) | Atypical glycine encephalopathy [RCV003091207] | uncertain significance | 1 | 44008364 | 44008364 | Human | 1 | name |
| 156373523 | CV1932912 | single nucleotide variant | NM_001024845.3(SLC6A9):c.361A>G (p.Ile121Val) | Atypical glycine encephalopathy [RCV002633621] | uncertain significance | 1 | 44008582 | 44008582 | Human | 1 | name |
| 156413198 | CV1968984 | single nucleotide variant | NM_001024845.3(SLC6A9):c.779G>A (p.Arg260His) | Atypical glycine encephalopathy [RCV002608770] | uncertain significance | 1 | 44002591 | 44002591 | Human | 1 | name |
| 156115885 | CV2015686 | single nucleotide variant | NM_001024845.3(SLC6A9):c.629T>C (p.Phe210Ser) | Atypical glycine encephalopathy [RCV002695849] | uncertain significance | 1 | 44002947 | 44002947 | Human | 1 | name |
| 156257245 | CV2025985 | single nucleotide variant | NM_001024845.3(SLC6A9):c.458C>T (p.Thr153Met) | Atypical glycine encephalopathy [RCV002746186] | uncertain significance | 1 | 44008485 | 44008485 | Human | 1 | name |
| 156149109 | CV2131118 | single nucleotide variant | NM_001024845.3(SLC6A9):c.622G>A (p.Gly208Arg) | Atypical glycine encephalopathy [RCV002982588] | uncertain significance | 1 | 44002954 | 44002954 | Human | 1 | name |
| 156000161 | CV2159390 | single nucleotide variant | NM_001024845.3(SLC6A9):c.449C>T (p.Pro150Leu) | Atypical glycine encephalopathy [RCV003017235] | uncertain significance | 1 | 44008494 | 44008494 | Human | 1 | name |
| 156070830 | CV2200199 | single nucleotide variant | NM_001024845.3(SLC6A9):c.784G>A (p.Val262Met) | Inborn genetic diseases [RCV002660230] | uncertain significance | 1 | 44002586 | 44002586 | Human | 1 | name |
| 155975432 | CV2235870 | single nucleotide variant | NM_001024845.3(SLC6A9):c.964G>A (p.Asp322Asn) | Inborn genetic diseases [RCV002777226] | uncertain significance | 1 | 44001626 | 44001626 | Human | 1 | name |
| 156310426 | CV2260039 | single nucleotide variant | NM_001024845.3(SLC6A9):c.388G>A (p.Ala130Thr) | Inborn genetic diseases [RCV002808942] | uncertain significance | 1 | 44008555 | 44008555 | Human | 1 | name |
| 156245328 | CV2347227 | single nucleotide variant | NM_001024845.3(SLC6A9):c.701G>A (p.Arg234Gln) | Inborn genetic diseases [RCV002987637] | uncertain significance | 1 | 44002875 | 44002875 | Human | 1 | name |
| 156181609 | CV2384091 | single nucleotide variant | NM_001024845.3(SLC6A9):c.472G>C (p.Gly158Arg) | Inborn genetic diseases [RCV002699413] | uncertain significance | 1 | 44008471 | 44008471 | Human | 1 | name |
| 243060714 | CV2408692 | single nucleotide variant | NM_001024845.3(SLC6A9):c.737C>T (p.Thr246Met) | Atypical glycine encephalopathy [RCV003136822] | uncertain significance | 1 | 44002633 | 44002633 | Human | 1 | name |
| 401758309 | CV2704417 | single nucleotide variant | NM_001024845.3(SLC6A9):c.484G>A (p.Ala162Thr) | Inborn genetic diseases [RCV003256352] | uncertain significance | 1 | 44008459 | 44008459 | Human | 1 | name |
| 407451931 | CV3481068 | single nucleotide variant | NM_001024845.3(SLC6A9):c.706G>C (p.Val236Leu) | Inborn genetic diseases [RCV004683852] | uncertain significance | 1 | 44002870 | 44002870 | Human | 1 | name |
| 596930144 | CV3531386 | single nucleotide variant | NM_001024845.3(SLC6A9):c.800C>A (p.Ala267Asp) | not provided [RCV004779960] | uncertain significance | 1 | 44002570 | 44002570 | Human | | name |
| 596926607 | CV3542335 | single nucleotide variant | NM_001024845.3(SLC6A9):c.743C>T (p.Thr248Met) | Atypical glycine encephalopathy [RCV004796550]|Inborn genetic diseases [RCV004968665] | uncertain significance | 1 | 44002627 | 44002627 | Human | 2 | name |
| 597627457 | CV3606686 | single nucleotide variant | NM_001024845.3(SLC6A9):c.412A>G (p.Met138Val) | Inborn genetic diseases [RCV004966490] | uncertain significance | 1 | 44008531 | 44008531 | Human | 1 | name |
| 597627469 | CV3606690 | single nucleotide variant | NM_001024845.3(SLC6A9):c.860T>C (p.Val287Ala) | Inborn genetic diseases [RCV004966494] | uncertain significance | 1 | 44002415 | 44002415 | Human | 1 | name |
| 597943467 | CV3758008 | single nucleotide variant | NM_001024845.3(SLC6A9):c.598G>T (p.Val200Leu) | Atypical glycine encephalopathy [RCV005078007] | uncertain significance | 1 | 44002978 | 44002978 | Human | 1 | name |
| 597878965 | CV3786813 | single nucleotide variant | NM_001024845.3(SLC6A9):c.658T>G (p.Cys220Gly) | Atypical glycine encephalopathy [RCV005123889] | uncertain significance | 1 | 44002918 | 44002918 | Human | 1 | name |
| 597972600 | CV3790408 | single nucleotide variant | NM_001024845.3(SLC6A9):c.939C>A (p.Asn313Lys) | Atypical glycine encephalopathy [RCV005142831] | uncertain significance | 1 | 44002336 | 44002336 | Human | 1 | name |
| 598259936 | CV3921980 | single nucleotide variant | NM_001024845.3(SLC6A9):c.656G>T (p.Gly219Val) | Inborn genetic diseases [RCV005279685] | uncertain significance | 1 | 44002920 | 44002920 | Human | 1 | name |
| 598259942 | CV3921984 | single nucleotide variant | NM_001024845.3(SLC6A9):c.469G>A (p.Ala157Thr) | Inborn genetic diseases [RCV005279687] | uncertain significance | 1 | 44008474 | 44008474 | Human | 1 | name |
| 13810900 | CV557286 | single nucleotide variant | NM_001024845.3(SLC6A9):c.832C>T (p.Gln278Ter) | Atypical glycine encephalopathy [RCV000688466] | pathogenic|likely pathogenic | 1 | 44002538 | 44002538 | Human | 1 | name |
| 14702397 | CV628031 | single nucleotide variant | NM_001024845.3(SLC6A9):c.664G>A (p.Gly222Ser) | Atypical glycine encephalopathy [RCV000806945] | uncertain significance | 1 | 44002912 | 44002912 | Human | 1 | name |
| 14730019 | CV628032 | single nucleotide variant | NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro) | Atypical glycine encephalopathy [RCV000817199]|Inborn genetic diseases [RCV002535444]|not provided [RCV004691313] | uncertain significance | 1 | 44008408 | 44008408 | Human | 2 | name |
| 15163738 | CV707428 | single nucleotide variant | NM_001024845.3(SLC6A9):c.517G>A (p.Ala173Thr) | Atypical glycine encephalopathy [RCV000970552] | likely benign | 1 | 44008426 | 44008426 | Human | 1 | name |
| 15182828 | CV707430 | single nucleotide variant | NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser) | Atypical glycine encephalopathy [RCV000974730]|Inborn genetic diseases [RCV002550530]|not provided [RCV004714167] | benign|likely benign | 1 | 44008471 | 44008471 | Human | 2 | name |
| 26908357 | CV824137 | single nucleotide variant | NM_001024845.3(SLC6A9):c.461A>G (p.His154Arg) | Atypical glycine encephalopathy [RCV001052537]|Inborn genetic diseases [RCV002553284] | likely benign|uncertain significance | 1 | 44008482 | 44008482 | Human | 2 | name |
| 38500003 | CV952442 | single nucleotide variant | NM_001024845.3(SLC6A9):c.754G>A (p.Val252Met) | Atypical glycine encephalopathy [RCV001245400] | uncertain significance | 1 | 44002616 | 44002616 | Human | 1 | name |
| 126742935 | CV1002861 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1381T>G (p.Phe461Val) | Atypical glycine encephalopathy [RCV001314728] | uncertain significance | 1 | 44001010 | 44001010 | Human | 1 | name |
| 151802355 | CV1351997 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1144C>T (p.Pro382Ser) | Atypical glycine encephalopathy [RCV002048098] | uncertain significance | 1 | 44001446 | 44001446 | Human | 1 | name |
| 151878719 | CV1370146 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1702C>T (p.Leu568Phe) | Atypical glycine encephalopathy [RCV001961366] | uncertain significance | 1 | 43997860 | 43997860 | Human | 1 | name |
| 151750781 | CV1370528 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1835C>T (p.Pro612Leu) | Atypical glycine encephalopathy [RCV001872233]|Inborn genetic diseases [RCV002547972] | uncertain significance | 1 | 43997612 | 43997612 | Human | 2 | name |
| 151876103 | CV1376442 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1613C>T (p.Ala538Val) | Atypical glycine encephalopathy [RCV002019555]|Inborn genetic diseases [RCV004045906]|not provided [RCV004691484] | uncertain significance | 1 | 43997949 | 43997949 | Human | 2 | name |
| 151750287 | CV1377526 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1442G>A (p.Arg481Gln) | Atypical glycine encephalopathy [RCV001948072] | uncertain significance | 1 | 44000861 | 44000861 | Human | 1 | name |
| 151860712 | CV1400331 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1811G>T (p.Gly604Val) | Atypical glycine encephalopathy [RCV001997099] | uncertain significance | 1 | 43997636 | 43997636 | Human | 1 | name |
| 151773506 | CV1414515 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1441C>T (p.Arg481Trp) | Atypical glycine encephalopathy [RCV001874674] | uncertain significance | 1 | 44000862 | 44000862 | Human | 1 | name |
| 151810722 | CV1417380 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1709G>A (p.Arg570His) | Atypical glycine encephalopathy [RCV002028945]|Inborn genetic diseases [RCV004046125] | uncertain significance | 1 | 43997738 | 43997738 | Human | 2 | name |
| 151808109 | CV1417825 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1780G>A (p.Ala594Thr) | Atypical glycine encephalopathy [RCV001867743] | uncertain significance | 1 | 43997667 | 43997667 | Human | 1 | name |
| 151842446 | CV1418246 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1697C>A (p.Thr566Asn) | Atypical glycine encephalopathy [RCV001903010] | uncertain significance | 1 | 43997865 | 43997865 | Human | 1 | name |
| 151727673 | CV1423554 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1511G>A (p.Arg504His) | Atypical glycine encephalopathy [RCV002004457] | uncertain significance | 1 | 44000792 | 44000792 | Human | 1 | name |
| 151835270 | CV1474731 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1844C>T (p.Ala615Val) | Atypical glycine encephalopathy [RCV001920905] | uncertain significance | 1 | 43997603 | 43997603 | Human | 1 | name |
| 151828885 | CV1480053 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1685C>T (p.Thr562Ile) | Atypical glycine encephalopathy [RCV001901604] | uncertain significance | 1 | 43997877 | 43997877 | Human | 1 | name |
| 151886625 | CV1499547 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1424T>C (p.Met475Thr) | Atypical glycine encephalopathy [RCV001887605] | uncertain significance | 1 | 44000967 | 44000967 | Human | 1 | name |
| 156373828 | CV1874962 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1244T>C (p.Val415Ala) | Atypical glycine encephalopathy [RCV003066526] | uncertain significance | 1 | 44001255 | 44001255 | Human | 1 | name |
| 156050178 | CV1884360 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1060G>A (p.Val354Met) | Atypical glycine encephalopathy [RCV003078842]|Inborn genetic diseases [RCV003089770] | uncertain significance | 1 | 44001530 | 44001530 | Human | 2 | name |
| 156248018 | CV1890643 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1862G>A (p.Gly621Asp) | Atypical glycine encephalopathy [RCV003085999]|Inborn genetic diseases [RCV003072923] | uncertain significance | 1 | 43997585 | 43997585 | Human | 2 | name |
| 155957980 | CV1903824 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1894C>T (p.Arg632Trp) | Atypical glycine encephalopathy [RCV003095690] | uncertain significance | 1 | 43997553 | 43997553 | Human | 1 | name |
| 156078813 | CV2011910 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1820T>G (p.Val607Gly) | Atypical glycine encephalopathy [RCV002705922] | uncertain significance | 1 | 43997627 | 43997627 | Human | 1 | name |
| 155959632 | CV2040377 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1891T>G (p.Ser631Ala) | Atypical glycine encephalopathy [RCV002776201] | uncertain significance | 1 | 43997556 | 43997556 | Human | 1 | name |
| 156284368 | CV2043038 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1682G>A (p.Arg561His) | Atypical glycine encephalopathy [RCV002770503] | uncertain significance | 1 | 43997880 | 43997880 | Human | 1 | name |
| 156136439 | CV2113357 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1007A>G (p.Tyr336Cys) | Atypical glycine encephalopathy [RCV002928397] | uncertain significance | 1 | 44001583 | 44001583 | Human | 1 | name |
| 156364661 | CV2130516 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1820T>A (p.Val607Asp) | Atypical glycine encephalopathy [RCV002967212] | uncertain significance | 1 | 43997627 | 43997627 | Human | 1 | name |
| 155987924 | CV2137088 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1865G>T (p.Ser622Ile) | Atypical glycine encephalopathy [RCV002996424] | uncertain significance | 1 | 43997582 | 43997582 | Human | 1 | name |
| 156024033 | CV2139049 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1028C>T (p.Ser343Phe) | Atypical glycine encephalopathy [RCV002998821] | uncertain significance | 1 | 44001562 | 44001562 | Human | 1 | name |
| 155986560 | CV2159745 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1787C>T (p.Thr596Ile) | Atypical glycine encephalopathy [RCV003034125] | uncertain significance | 1 | 43997660 | 43997660 | Human | 1 | name |
| 156266927 | CV2198782 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1064A>T (p.Asp355Val) | Inborn genetic diseases [RCV002669304] | uncertain significance | 1 | 44001526 | 44001526 | Human | 1 | name |
| 156072833 | CV2240575 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1735A>G (p.Arg579Gly) | Inborn genetic diseases [RCV002797499] | uncertain significance | 1 | 43997712 | 43997712 | Human | 1 | name |
| 155989050 | CV2371894 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1609G>A (p.Val537Met) | Inborn genetic diseases [RCV002689048] | uncertain significance | 1 | 43997953 | 43997953 | Human | 1 | name |
| 156094093 | CV2398792 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1880G>A (p.Arg627His) | Atypical glycine encephalopathy [RCV005099212]|Inborn genetic diseases [RCV002784494] | uncertain significance | 1 | 43997567 | 43997567 | Human | 2 | name |
| 401874537 | CV2774021 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1489C>T (p.Leu497Phe) | Inborn genetic diseases [RCV003362292] | uncertain significance | 1 | 44000814 | 44000814 | Human | 1 | name |
| 401888067 | CV2791208 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1824G>C (p.Gln608His) | Inborn genetic diseases [RCV003367474] | uncertain significance | 1 | 43997623 | 43997623 | Human | 1 | name |
| 401932197 | CV2797215 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1403G>C (p.Cys468Ser) | SLC6A9-related disorder [RCV003408633] | uncertain significance | 1 | 44000988 | 44000988 | Human | | name , trait , alternate_id |
| 401933697 | CV2799529 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1833C>A (p.His611Gln) | SLC6A9-related disorder [RCV003410571] | uncertain significance | 1 | 43997614 | 43997614 | Human | | name , trait , alternate_id |
| 405731117 | CV3322196 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1055T>C (p.Leu352Pro) | Inborn genetic diseases [RCV004464348] | uncertain significance | 1 | 44001535 | 44001535 | Human | 1 | name |
| 405731125 | CV3322197 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1642G>A (p.Val548Ile) | Inborn genetic diseases [RCV004464349] | uncertain significance | 1 | 43997920 | 43997920 | Human | 1 | name |
| 405731133 | CV3322198 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1673G>A (p.Arg558Gln) | Inborn genetic diseases [RCV004464350] | likely benign | 1 | 43997889 | 43997889 | Human | 1 | name |
| 407515603 | CV3481065 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1774C>T (p.Arg592Cys) | Inborn genetic diseases [RCV004674990] | uncertain significance | 1 | 43997673 | 43997673 | Human | 1 | name |
| 408368448 | CV3500646 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1274C>A (p.Thr425Asn) | Atypical glycine encephalopathy [RCV004723723] | uncertain significance | 1 | 44001225 | 44001225 | Human | 1 | name |
| 596922444 | CV3537221 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1856T>A (p.Ile619Asn) | not provided [RCV004786217] | uncertain significance | 1 | 43997591 | 43997591 | Human | | name |
| 596922445 | CV3537222 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1571C>T (p.Pro524Leu) | not provided [RCV004786218] | uncertain significance | 1 | 43997991 | 43997991 | Human | | name |
| 597627459 | CV3606687 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1843G>T (p.Ala615Ser) | Inborn genetic diseases [RCV004966491] | uncertain significance | 1 | 43997604 | 43997604 | Human | 1 | name |
| 597627465 | CV3606689 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1138A>G (p.Ile380Val) | Inborn genetic diseases [RCV004966493] | uncertain significance | 1 | 44001452 | 44001452 | Human | 1 | name |
| 597627472 | CV3606691 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1879C>T (p.Arg627Cys) | Inborn genetic diseases [RCV004966495] | uncertain significance | 1 | 43997568 | 43997568 | Human | 1 | name |
| 12742906 | CV361894 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly) | Atypical glycine encephalopathy [RCV000415674] | pathogenic | 1 | 44001590 | 44001590 | Human | 1 | name |
| 12742908 | CV361895 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter) | Atypical glycine encephalopathy [RCV000415706] | pathogenic | 1 | 44000805 | 44000805 | Human | 1 | name |
| 597863141 | CV3745276 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1516G>A (p.Val506Ile) | Atypical glycine encephalopathy [RCV005067632] | uncertain significance | 1 | 44000787 | 44000787 | Human | 1 | name |
| 597859042 | CV3817102 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1639T>C (p.Ser547Pro) | Atypical glycine encephalopathy [RCV005146483] | uncertain significance | 1 | 43997923 | 43997923 | Human | 1 | name |
| 598237610 | CV3921981 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1621T>C (p.Phe541Leu) | Inborn genetic diseases [RCV005275688] | uncertain significance | 1 | 43997941 | 43997941 | Human | 1 | name |
| 598237614 | CV3921982 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1775G>T (p.Arg592Leu) | Inborn genetic diseases [RCV005275689] | uncertain significance | 1 | 43997672 | 43997672 | Human | 1 | name |
| 13838490 | CV589796 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1003G>A (p.Val335Ile) | Atypical glycine encephalopathy [RCV001238545]|not provided [RCV000735197] | uncertain significance | 1 | 44001587 | 44001587 | Human | 1 | name |
| 15100427 | CV718981 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser) | Atypical glycine encephalopathy [RCV000892105]|not provided [RCV004711375] | likely benign | 1 | 43997637 | 43997637 | Human | 1 | name |
| 15184437 | CV732484 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1721C>T (p.Ala574Val) | Atypical glycine encephalopathy [RCV002068663] | likely benign|conflicting interpretations of pathogenicity | 1 | 43997726 | 43997726 | Human | 1 | name |
| 126761792 | CV987616 | single nucleotide variant | NM_001024845.3(SLC6A9):c.1435G>A (p.Gly479Arg) | Atypical glycine encephalopathy [RCV001309701] | uncertain significance | 1 | 44000956 | 44000956 | Human | 1 | name |
| 12742902 | CV361896 | deletion | NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs) | Atypical glycine encephalopathy [RCV000415630] | pathogenic | 1 | 44002863 | 44002867 | Human | 1 | name |
| 153346482 | CV1691760 | deletion | NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs) | Atypical glycine encephalopathy [RCV002273243] | uncertain significance | 1 | 44000777 | 44000778 | Human | 1 | name |
| 156155906 | CV2150796 | deletion | NM_001024845.3(SLC6A9):c.1871_1877del (p.Gly624fs) | Atypical glycine encephalopathy [RCV003023016] | uncertain significance | 1 | 43997570 | 43997576 | Human | 1 | name |
| 13462123 | CV439365 | deletion | NM_001024845.3(SLC6A9):c.1492_1493del (p.Phe498fs) | not provided [RCV000513763] | likely pathogenic | 1 | 44000810 | 44000811 | Human | | name |
| 152062405 | CV1558532 | insertion | NM_001024845.3(SLC6A9):c.187+15_187+16insGCACGGGGGAGGTACCCAGTGA | Atypical glycine encephalopathy [RCV002128497] | likely benign | 1 | 44010710 | 44010711 | Human | 1 | name |
