| 405293131 | CV3207224 | single nucleotide variant | NM_003486.7(SLC7A5):c.*9C>G | SLC7A5-related disorder [RCV003931623] | likely benign | 16 | 87832961 | 87832961 | Human | | name , trait , alternate_id |
| 405266295 | CV3211803 | single nucleotide variant | NM_003486.7(SLC7A5):c.-1C>T | SLC7A5-related disorder [RCV003947092] | likely benign | 16 | 87869423 | 87869423 | Human | | name , trait , alternate_id |
| 405272192 | CV3203093 | single nucleotide variant | NM_003486.7(SLC7A5):c.1290+6C>A | SLC7A5-related disorder [RCV003914140] | likely benign | 16 | 87836492 | 87836492 | Human | | name , trait , alternate_id |
| 405278010 | CV3205269 | single nucleotide variant | NM_003486.7(SLC7A5):c.1141-4C>A | SLC7A5-related disorder [RCV003954310] | likely benign | 16 | 87836651 | 87836651 | Human | | name , trait , alternate_id |
| 15118794 | CV779787 | single nucleotide variant | NM_003486.7(SLC7A5):c.1043+6C>T | not provided [RCV000962439] | benign | 16 | 87838708 | 87838708 | Human | | name |
| 598260212 | CV3922039 | single nucleotide variant | NM_003486.7(SLC7A5):c.5C>T (p.Ala2Val) | not specified [RCV005279739] | uncertain significance | 16 | 87869418 | 87869418 | Human | | name |
| 401911920 | CV2817907 | single nucleotide variant | NM_003486.7(SLC7A5):c.132G>C (p.Val44=) | not provided [RCV003426886] | likely benign | 16 | 87869291 | 87869291 | Human | | name |
| 405256016 | CV3208565 | single nucleotide variant | NM_003486.7(SLC7A5):c.17C>T (p.Pro6Leu) | SLC7A5-related disorder [RCV003939642] | benign | 16 | 87869406 | 87869406 | Human | | name , trait , alternate_id |
| 598260192 | CV3922034 | single nucleotide variant | NM_003486.7(SLC7A5):c.23G>T (p.Arg8Leu) | not specified [RCV005279735] | uncertain significance | 16 | 87869400 | 87869400 | Human | | name |
| 598237629 | CV3922035 | single nucleotide variant | NM_003486.7(SLC7A5):c.17C>G (p.Pro6Arg) | not specified [RCV005275692] | uncertain significance | 16 | 87869406 | 87869406 | Human | | name |
| 156237698 | CV2265238 | single nucleotide variant | NM_003486.7(SLC7A5):c.76A>T (p.Met26Leu) | not specified [RCV004126348] | uncertain significance | 16 | 87869347 | 87869347 | Human | | name |
| 401730468 | CV2711332 | single nucleotide variant | NM_003486.7(SLC7A5):c.46G>A (p.Ala16Thr) | not specified [RCV004313102] | uncertain significance | 16 | 87869377 | 87869377 | Human | | name |
| 401723545 | CV2724941 | single nucleotide variant | NM_003486.7(SLC7A5):c.31C>G (p.Leu11Val) | not specified [RCV004319705] | uncertain significance | 16 | 87869392 | 87869392 | Human | | name |
| 401873297 | CV2776472 | single nucleotide variant | NM_003486.7(SLC7A5):c.68G>C (p.Arg23Pro) | not specified [RCV004355580] | uncertain significance | 16 | 87869355 | 87869355 | Human | | name |
| 405284551 | CV3196865 | single nucleotide variant | NM_003486.7(SLC7A5):c.552C>G (p.Ala184=) | SLC7A5-related disorder [RCV003979729] | likely benign | 16 | 87851836 | 87851836 | Human | | name , trait , alternate_id |
| 405276193 | CV3199632 | single nucleotide variant | NM_003486.7(SLC7A5):c.459C>T (p.Ala153=) | SLC7A5-related disorder [RCV003917020] | likely benign | 16 | 87868964 | 87868964 | Human | | name , trait , alternate_id |
| 405284774 | CV3201828 | single nucleotide variant | NM_003486.7(SLC7A5):c.990C>T (p.Phe330=) | SLC7A5-related disorder [RCV003909350] | likely benign | 16 | 87838767 | 87838767 | Human | | name , trait , alternate_id |
| 405283121 | CV3216942 | single nucleotide variant | NM_003486.7(SLC7A5):c.345C>A (p.Gly115=) | SLC7A5-related disorder [RCV003979102] | benign | 16 | 87869078 | 87869078 | Human | | name , trait , alternate_id |
| 405770689 | CV3322294 | single nucleotide variant | NM_003486.7(SLC7A5):c.94G>T (p.Ala32Ser) | not specified [RCV004456925] | uncertain significance | 16 | 87869329 | 87869329 | Human | | name |
| 15168235 | CV740436 | single nucleotide variant | NM_003486.7(SLC7A5):c.597C>T (p.Ala199=) | SLC7A5-related disorder [RCV003910809]|not provided [RCV000904811] | benign | 16 | 87851791 | 87851791 | Human | | name , trait , alternate_id |
| 15174695 | CV740437 | single nucleotide variant | NM_003486.7(SLC7A5):c.387C>T (p.Ala129=) | SLC7A5-related disorder [RCV003950658]|not provided [RCV000906029] | benign | 16 | 87869036 | 87869036 | Human | | name , trait , alternate_id |
| 401766530 | CV2676201 | single nucleotide variant | NM_003486.7(SLC7A5):c.151A>G (p.Thr51Ala) | not specified [RCV004286248] | uncertain significance | 16 | 87869272 | 87869272 | Human | | name |
| 405280588 | CV3195578 | single nucleotide variant | NM_003486.7(SLC7A5):c.122G>A (p.Gly41Asp) | SLC7A5-related disorder [RCV003906822] | likely benign | 16 | 87869301 | 87869301 | Human | | name , trait , alternate_id |
| 405295139 | CV3211082 | single nucleotide variant | NM_003486.7(SLC7A5):c.1347C>G (p.Val449=) | SLC7A5-related disorder [RCV003937079] | benign | 16 | 87834535 | 87834535 | Human | | name , trait , alternate_id |
| 597776693 | CV3606752 | single nucleotide variant | NM_003486.7(SLC7A5):c.104C>T (p.Ser35Leu) | not specified [RCV004872862] | uncertain significance | 16 | 87869319 | 87869319 | Human | | name |
| 598260197 | CV3922036 | single nucleotide variant | NM_003486.7(SLC7A5):c.167T>G (p.Val56Gly) | not specified [RCV005279736] | uncertain significance | 16 | 87869256 | 87869256 | Human | | name |
| 598260202 | CV3922037 | single nucleotide variant | NM_003486.7(SLC7A5):c.231G>C (p.Lys77Asn) | not specified [RCV005279737] | uncertain significance | 16 | 87869192 | 87869192 | Human | | name |
| 15154399 | CV715157 | single nucleotide variant | NM_003486.7(SLC7A5):c.1131C>T (p.Leu377=) | SLC7A5-related disorder [RCV003916262]|not provided [RCV000968730] | benign | 16 | 87837854 | 87837854 | Human | | name , trait , alternate_id |
| 15112768 | CV715158 | single nucleotide variant | NM_003486.7(SLC7A5):c.1008C>T (p.Phe336=) | not provided [RCV000961363] | benign | 16 | 87838749 | 87838749 | Human | | name |
| 151732555 | CV1336382 | single nucleotide variant | NM_003486.7(SLC7A5):c.737C>T (p.Ala246Val) | Autism spectrum disorder [RCV001849610] | uncertain significance | 16 | 87841083 | 87841083 | Human | 2 | name |
| 156398751 | CV2194766 | single nucleotide variant | NM_003486.7(SLC7A5):c.964G>A (p.Val322Ile) | not specified [RCV004075314] | uncertain significance | 16 | 87838793 | 87838793 | Human | | name |
| 329356163 | CV2442485 | single nucleotide variant | NM_003486.7(SLC7A5):c.612G>T (p.Lys204Asn) | not specified [RCV004266726] | uncertain significance | 16 | 87851776 | 87851776 | Human | | name |
| 401737676 | CV2699880 | single nucleotide variant | NM_003486.7(SLC7A5):c.920C>T (p.Ser307Leu) | not specified [RCV004308518] | uncertain significance | 16 | 87839721 | 87839721 | Human | | name |
| 401935747 | CV2817906 | single nucleotide variant | NM_003486.7(SLC7A5):c.607G>A (p.Ala203Thr) | not provided [RCV003413023] | likely benign | 16 | 87851781 | 87851781 | Human | | name |
| 405770650 | CV3322287 | single nucleotide variant | NM_003486.7(SLC7A5):c.343G>A (p.Gly115Ser) | not specified [RCV004456918] | uncertain significance | 16 | 87869080 | 87869080 | Human | | name |
| 405770657 | CV3322288 | single nucleotide variant | NM_003486.7(SLC7A5):c.422G>A (p.Arg141Gln) | not specified [RCV004456919] | uncertain significance | 16 | 87869001 | 87869001 | Human | | name |
| 405770662 | CV3322289 | single nucleotide variant | NM_003486.7(SLC7A5):c.494C>T (p.Pro165Leu) | not specified [RCV004456920] | uncertain significance | 16 | 87868929 | 87868929 | Human | | name |
| 405770668 | CV3322290 | single nucleotide variant | NM_003486.7(SLC7A5):c.527G>T (p.Cys176Phe) | not specified [RCV004456921] | uncertain significance | 16 | 87868896 | 87868896 | Human | | name |
| 405770678 | CV3322292 | single nucleotide variant | NM_003486.7(SLC7A5):c.806A>G (p.Asn269Ser) | not specified [RCV004456923] | uncertain significance | 16 | 87840438 | 87840438 | Human | | name |
| 405770682 | CV3322293 | single nucleotide variant | NM_003486.7(SLC7A5):c.937G>A (p.Val313Met) | not specified [RCV004456924] | uncertain significance | 16 | 87839704 | 87839704 | Human | | name |
| 407515706 | CV3481111 | single nucleotide variant | NM_003486.7(SLC7A5):c.584G>A (p.Arg195Gln) | not specified [RCV004675023] | uncertain significance | 16 | 87851804 | 87851804 | Human | | name |
| 407515711 | CV3481113 | single nucleotide variant | NM_003486.7(SLC7A5):c.577G>A (p.Ala193Thr) | not specified [RCV004675025] | uncertain significance | 16 | 87851811 | 87851811 | Human | | name |
| 597725091 | CV3606753 | single nucleotide variant | NM_003486.7(SLC7A5):c.865T>C (p.Tyr289His) | not specified [RCV004862389] | uncertain significance | 16 | 87839776 | 87839776 | Human | | name |
| 597725099 | CV3606754 | single nucleotide variant | NM_003486.7(SLC7A5):c.931G>A (p.Val311Met) | not specified [RCV004862390] | uncertain significance | 16 | 87839710 | 87839710 | Human | | name |
| 597725117 | CV3606758 | single nucleotide variant | NM_003486.7(SLC7A5):c.391C>T (p.Leu131Phe) | not specified [RCV004862392] | uncertain significance | 16 | 87869032 | 87869032 | Human | | name |
| 598260207 | CV3922038 | single nucleotide variant | NM_003486.7(SLC7A5):c.314A>G (p.Glu105Gly) | not specified [RCV005279738] | uncertain significance | 16 | 87869109 | 87869109 | Human | | name |
| 15200931 | CV703876 | single nucleotide variant | NM_003486.7(SLC7A5):c.668A>T (p.Asp223Val) | SLC7A5-related disorder [RCV003935882]|not provided [RCV000957475] | benign | 16 | 87841152 | 87841152 | Human | | name , trait , alternate_id |
| 15112777 | CV715159 | single nucleotide variant | NM_003486.7(SLC7A5):c.690C>G (p.Asn230Lys) | not provided [RCV000961364] | benign | 16 | 87841130 | 87841130 | Human | | name |
| 151732590 | CV1336389 | single nucleotide variant | NM_003486.7(SLC7A5):c.1124C>T (p.Pro375Leu) | Autism spectrum disorder [RCV001849617] | uncertain significance | 16 | 87837861 | 87837861 | Human | 2 | name |
| 156380351 | CV2208123 | single nucleotide variant | NM_003486.7(SLC7A5):c.1303C>G (p.Leu435Val) | not specified [RCV004086803] | uncertain significance | 16 | 87834579 | 87834579 | Human | | name |
| 156030002 | CV2238368 | single nucleotide variant | NM_003486.7(SLC7A5):c.1240G>A (p.Gly414Ser) | not specified [RCV004113438] | uncertain significance | 16 | 87836548 | 87836548 | Human | | name |
| 156182065 | CV2338173 | single nucleotide variant | NM_003486.7(SLC7A5):c.1460A>G (p.Gln487Arg) | not specified [RCV004184200] | uncertain significance | 16 | 87834422 | 87834422 | Human | | name |
| 156012800 | CV2358962 | single nucleotide variant | NM_003486.7(SLC7A5):c.1266G>T (p.Lys422Asn) | not specified [RCV004212292] | uncertain significance | 16 | 87836522 | 87836522 | Human | | name |
| 155908746 | CV2387431 | single nucleotide variant | NM_003486.7(SLC7A5):c.1426G>T (p.Val476Phe) | not specified [RCV004240296] | uncertain significance | 16 | 87834456 | 87834456 | Human | | name |
| 329360566 | CV2439505 | single nucleotide variant | NM_003486.7(SLC7A5):c.1342G>A (p.Ala448Thr) | not specified [RCV004262444] | uncertain significance | 16 | 87834540 | 87834540 | Human | | name |
| 401731016 | CV2674232 | single nucleotide variant | NM_003486.7(SLC7A5):c.1144G>C (p.Val382Leu) | not specified [RCV004289122] | uncertain significance | 16 | 87836644 | 87836644 | Human | | name |
| 401883449 | CV2785663 | single nucleotide variant | NM_003486.7(SLC7A5):c.1300G>A (p.Ala434Thr) | not specified [RCV004364932] | uncertain significance | 16 | 87834582 | 87834582 | Human | | name |
| 401865774 | CV2786123 | single nucleotide variant | NM_003486.7(SLC7A5):c.1510C>A (p.Pro504Thr) | not specified [RCV004359930] | uncertain significance | 16 | 87832984 | 87832984 | Human | | name |
| 405770627 | CV3322283 | single nucleotide variant | NM_003486.7(SLC7A5):c.1463G>T (p.Gly488Val) | not specified [RCV004456914] | uncertain significance | 16 | 87834419 | 87834419 | Human | | name |
| 405770632 | CV3322284 | single nucleotide variant | NM_003486.7(SLC7A5):c.1465A>G (p.Ile489Val) | not specified [RCV004456915] | uncertain significance | 16 | 87834417 | 87834417 | Human | | name |
| 405770638 | CV3322285 | single nucleotide variant | NM_003486.7(SLC7A5):c.1499T>A (p.Met500Lys) | not specified [RCV004456916] | uncertain significance | 16 | 87832995 | 87832995 | Human | | name |
| 407515709 | CV3481112 | single nucleotide variant | NM_003486.7(SLC7A5):c.1132G>A (p.Val378Met) | not specified [RCV004675024] | uncertain significance | 16 | 87837853 | 87837853 | Human | | name |
| 597776689 | CV3606751 | single nucleotide variant | NM_003486.7(SLC7A5):c.1108C>G (p.Leu370Val) | not specified [RCV004872861] | uncertain significance | 16 | 87837877 | 87837877 | Human | | name |
| 597776701 | CV3606757 | single nucleotide variant | NM_003486.7(SLC7A5):c.1440C>G (p.Asn480Lys) | not specified [RCV004872864] | uncertain significance | 16 | 87834442 | 87834442 | Human | | name |
| 597776705 | CV3606759 | single nucleotide variant | NM_003486.7(SLC7A5):c.1315T>G (p.Phe439Val) | not specified [RCV004872865] | uncertain significance | 16 | 87834567 | 87834567 | Human | | name |