| 156164790 | CV2270293 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.7G>T (p.Ala3Ser) | not specified [RCV004135505] | uncertain significance | 16 | 68310920 | 68310920 | Human | | name |
| 156105887 | CV2217718 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.13A>G (p.Arg5Gly) | not specified [RCV004083900] | uncertain significance | 16 | 68310914 | 68310914 | Human | | name |
| 401903361 | CV2817596 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.168C>T (p.His56=) | not provided [RCV003419383] | likely benign | 16 | 68310759 | 68310759 | Human | | name |
| 598260226 | CV3922043 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.16A>G (p.Thr6Ala) | not specified [RCV005279742] | uncertain significance | 16 | 68310911 | 68310911 | Human | | name |
| 156057048 | CV2326712 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.46A>G (p.Ser16Gly) | not specified [RCV004185286] | uncertain significance | 16 | 68310881 | 68310881 | Human | | name |
| 156164391 | CV2389689 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.65C>T (p.Ala22Val) | not specified [RCV004243740] | uncertain significance | 16 | 68310862 | 68310862 | Human | | name |
| 329352293 | CV2476646 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.669A>G (p.Glu223=) | not provided [RCV003222878] | likely benign | 16 | 68304035 | 68304035 | Human | | name |
| 401721025 | CV2673573 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.59C>T (p.Ala20Val) | not specified [RCV004288535] | uncertain significance | 16 | 68310868 | 68310868 | Human | | name |
| 401903358 | CV2817593 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.648C>T (p.Ser216=) | not provided [RCV003419381] | likely benign | 16 | 68304056 | 68304056 | Human | | name |
| 408379816 | CV3500992 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.390C>G (p.Ala130=) | not provided [RCV004722642] | likely benign | 16 | 68310416 | 68310416 | Human | | name |
| 597776740 | CV3606768 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.42G>C (p.Lys14Asn) | not specified [RCV004872873] | uncertain significance | 16 | 68310885 | 68310885 | Human | | name |
| 597758668 | CV3715608 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.41A>T (p.Lys14Met) | Epilepsy, progressive myoclonic, 12 [RCV005017738] | uncertain significance | 16 | 68310886 | 68310886 | Human | 1 | name |
| 598237634 | CV3922041 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.53A>G (p.Glu18Gly) | not specified [RCV005275693] | uncertain significance | 16 | 68310874 | 68310874 | Human | | name |
| 15175274 | CV715026 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.70G>A (p.Val24Met) | not provided [RCV000972905] | benign | 16 | 68310857 | 68310857 | Human | | name |
| 401780560 | CV2674080 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.143G>A (p.Arg48Lys) | not specified [RCV004295486] | uncertain significance | 16 | 68310784 | 68310784 | Human | | name |
| 401718136 | CV2700182 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.211C>G (p.Leu71Val) | not specified [RCV004309046] | uncertain significance | 16 | 68310595 | 68310595 | Human | | name |
| 405770729 | CV3322301 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.208C>T (p.Pro70Ser) | not specified [RCV004456932] | uncertain significance | 16 | 68310598 | 68310598 | Human | | name |
| 407452046 | CV3481123 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.207G>T (p.Gln69His) | not specified [RCV004683869] | uncertain significance | 16 | 68310599 | 68310599 | Human | | name |
| 597776731 | CV3606766 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.272G>T (p.Arg91Leu) | not specified [RCV004872871] | uncertain significance | 16 | 68310534 | 68310534 | Human | | name |
| 598260221 | CV3922042 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.112G>A (p.Ala38Thr) | not specified [RCV005279741] | uncertain significance | 16 | 68310815 | 68310815 | Human | | name |
| 38465168 | CV961746 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) | Epilepsy, progressive myoclonic, 12 [RCV001293363]|Generalized myoclonic seizure [RCV001250043]|not provided [RCV002253788]|not specified [RCV004671301] | pathogenic|likely pathogenic|uncertain significance | 16 | 68310736 | 68310736 | Human | 3 | name |
| 150520244 | CV1289378 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.709T>C (p.Tyr237His) | Epilepsy, progressive myoclonic, 12 [RCV001728129] | uncertain significance | 16 | 68302471 | 68302471 | Human | 1 | name |
| 156181384 | CV2226072 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.352G>T (p.Gly118Cys) | not specified [RCV004105220] | uncertain significance | 16 | 68310454 | 68310454 | Human | | name |
| 156207033 | CV2250002 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.418G>C (p.Asp140His) | not specified [RCV004122966] | uncertain significance | 16 | 68310388 | 68310388 | Human | | name |
| 156098685 | CV2306484 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.407T>A (p.Phe136Tyr) | not specified [RCV004157103] | uncertain significance | 16 | 68310399 | 68310399 | Human | | name |
| 155988018 | CV2363917 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.590T>C (p.Val197Ala) | not specified [RCV004218888] | uncertain significance | 16 | 68304114 | 68304114 | Human | | name |
| 156019885 | CV2367024 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.614C>T (p.Thr205Met) | not specified [RCV004215475] | likely benign | 16 | 68304090 | 68304090 | Human | | name |
| 401719131 | CV2704968 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.670T>C (p.Trp224Arg) | not specified [RCV004307534] | uncertain significance | 16 | 68304034 | 68304034 | Human | | name |
| 401721764 | CV2710150 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.919G>T (p.Asp307Tyr) | not specified [RCV004315199] | uncertain significance | 16 | 68301286 | 68301286 | Human | | name |
| 401763879 | CV2725342 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.316C>T (p.Leu106Phe) | not specified [RCV004319998] | uncertain significance | 16 | 68310490 | 68310490 | Human | | name |
| 401868722 | CV2767322 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.654G>T (p.Gln218His) | not specified [RCV004349488] | uncertain significance | 16 | 68304050 | 68304050 | Human | | name |
| 401919168 | CV2794783 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.759C>G (p.Tyr253Ter) | not specified [RCV003388458] | uncertain significance | 16 | 68302421 | 68302421 | Human | | name |
| 401911738 | CV2817594 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.380A>G (p.Asn127Ser) | not provided [RCV003426750] | likely benign | 16 | 68310426 | 68310426 | Human | | name |
| 401903359 | CV2817595 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.358G>A (p.Glu120Lys) | not provided [RCV003419382] | uncertain significance | 16 | 68310448 | 68310448 | Human | | name |
| 405770740 | CV3322303 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.467G>T (p.Cys156Phe) | not specified [RCV004456934] | uncertain significance | 16 | 68310339 | 68310339 | Human | | name |
| 405770745 | CV3322304 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.743A>G (p.Asn248Ser) | not specified [RCV004456935] | uncertain significance | 16 | 68302437 | 68302437 | Human | | name |
| 405770751 | CV3322305 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.775A>G (p.Ser259Gly) | not specified [RCV004456936] | uncertain significance | 16 | 68302405 | 68302405 | Human | | name |
| 407452040 | CV3481117 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.332C>A (p.Ser111Tyr) | not specified [RCV004683866] | uncertain significance | 16 | 68310474 | 68310474 | Human | | name |
| 407487415 | CV3481118 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.864C>G (p.Ser288Arg) | not specified [RCV004675028] | uncertain significance | 16 | 68301341 | 68301341 | Human | | name |
| 407488755 | CV3481119 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.835A>G (p.Arg279Gly) | not specified [RCV004683867] | uncertain significance | 16 | 68301370 | 68301370 | Human | | name |
| 407452042 | CV3481120 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.752A>G (p.Asn251Ser) | not specified [RCV004683868] | uncertain significance | 16 | 68302428 | 68302428 | Human | | name |
| 407515719 | CV3481121 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.622C>G (p.Pro208Ala) | not specified [RCV004675029] | uncertain significance | 16 | 68304082 | 68304082 | Human | | name |
| 407515723 | CV3481122 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.311G>A (p.Arg104Gln) | not specified [RCV004675030] | uncertain significance | 16 | 68310495 | 68310495 | Human | | name |
| 597776736 | CV3606767 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.712G>A (p.Asp238Asn) | not specified [RCV004872872] | uncertain significance | 16 | 68302468 | 68302468 | Human | | name |
| 597725136 | CV3606769 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.605A>G (p.Tyr202Cys) | not specified [RCV004862394] | uncertain significance | 16 | 68304099 | 68304099 | Human | | name |
| 15186745 | CV726746 | single nucleotide variant | NM_032178.3(SLC7A6OS):c.649G>A (p.Val217Met) | not provided [RCV000887059] | likely benign | 16 | 68304055 | 68304055 | Human | | name |