| 401724608 | CV2677932 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-6G>A | not specified [RCV004294418] | uncertain significance | 8 | 17543334 | 17543334 | Human | | name |
| 405770396 | CV3322244 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-9G>C | not specified [RCV004456875] | uncertain significance | 8 | 17543331 | 17543331 | Human | | name |
| 401759623 | CV2701639 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-11C>T | not specified [RCV004314056] | uncertain significance | 8 | 17543329 | 17543329 | Human | | name |
| 405293264 | CV3207347 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-19G>A | SLC7A2-related disorder [RCV003931736] | benign | 8 | 17543321 | 17543321 | Human | | name , trait , alternate_id |
| 597725021 | CV3606720 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-14C>T | not specified [RCV004862381] | uncertain significance | 8 | 17543326 | 17543326 | Human | | name |
| 405288029 | CV3218089 | single nucleotide variant | NM_001370338.1(SLC7A2):c.533-4A>G | SLC7A2-related disorder [RCV003982214] | benign | 8 | 17548674 | 17548674 | Human | | name , trait , alternate_id |
| 155795139 | CV1858941 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1195+360C>T | Myoepithelial tumor [RCV002463906] | uncertain significance | 8 | 17555059 | 17555059 | Human | 1 | name |
| 156134845 | CV2213241 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4454A>G | not specified [RCV004085463] | uncertain significance | 8 | 17538864 | 17538864 | Human | | name |
| 156220031 | CV2226071 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4477G>A | not specified [RCV004105219] | uncertain significance | 8 | 17538841 | 17538841 | Human | | name |
| 156281190 | CV2338443 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4407C>A | not specified [RCV004186486] | uncertain significance | 8 | 17538911 | 17538911 | Human | 1 | name |
| 156281190 | CV2338443 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4407C>A | not specified [RCV004186486] | uncertain significance | 8 | 17538911 | 17538912 | Human | 1 | name |
| 405276328 | CV3193379 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4412G>C | SLC7A2-related disorder [RCV003974546] | benign | 8 | 17538906 | 17538906 | Human | | name , trait , alternate_id |
| 405276670 | CV3193494 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4447G>A | SLC7A2-related disorder [RCV003974662] | benign | 8 | 17538871 | 17538871 | Human | | name , trait , alternate_id |
| 405283975 | CV3200464 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4386A>C | SLC7A2-related disorder [RCV003979486] | benign | 8 | 17538932 | 17538932 | Human | | name , trait , alternate_id |
| 597776614 | CV3606728 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4415T>G | not specified [RCV004872843] | uncertain significance | 8 | 17538903 | 17538903 | Human | | name |
| 597776618 | CV3606730 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4463G>T | not specified [RCV004872844] | uncertain significance | 8 | 17538855 | 17538855 | Human | | name |
| 598260094 | CV3922014 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4487A>G | not specified [RCV005279716] | uncertain significance | 8 | 17538831 | 17538831 | Human | | name |
| 598260113 | CV3922018 | single nucleotide variant | NM_001370338.1(SLC7A2):c.-22-4406A>G | not specified [RCV005279720] | uncertain significance | 8 | 17538912 | 17538912 | Human | | name |
| 407515690 | CV3481102 | single nucleotide variant | NM_001370338.1(SLC7A2):c.13A>G (p.Arg5Gly) | not specified [RCV004675018] | uncertain significance | 8 | 17543352 | 17543352 | Human | | name |
| 598260072 | CV3922010 | single nucleotide variant | NM_001370338.1(SLC7A2):c.94C>T (p.Arg32Cys) | not specified [RCV005279712] | uncertain significance | 8 | 17543433 | 17543433 | Human | | name |
| 598260104 | CV3922016 | single nucleotide variant | NM_001370338.1(SLC7A2):c.83C>T (p.Thr28Ile) | not specified [RCV005279718] | uncertain significance | 8 | 17543422 | 17543422 | Human | | name |
| 401762509 | CV2723470 | single nucleotide variant | NM_001370338.1(SLC7A2):c.275G>A (p.Arg92His) | not specified [RCV004323539] | uncertain significance | 8 | 17543614 | 17543614 | Human | | name |
| 405283629 | CV3191806 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1581C>T (p.Leu527=) | SLC7A2-related disorder [RCV003921904] | benign | 8 | 17562020 | 17562020 | Human | | name , trait , alternate_id |
| 405770423 | CV3322248 | single nucleotide variant | NM_001370338.1(SLC7A2):c.109A>G (p.Met37Val) | not specified [RCV004456879] | uncertain significance | 8 | 17543448 | 17543448 | Human | | name |
| 405770428 | CV3322249 | single nucleotide variant | NM_001370338.1(SLC7A2):c.205G>A (p.Val69Met) | not specified [RCV004456880] | uncertain significance | 8 | 17543544 | 17543544 | Human | | name |
| 405770433 | CV3322250 | single nucleotide variant | NM_001370338.1(SLC7A2):c.232G>T (p.Ala78Ser) | not specified [RCV004456881] | uncertain significance | 8 | 17543571 | 17543571 | Human | | name |
| 597776610 | CV3606727 | single nucleotide variant | NM_001370338.1(SLC7A2):c.194G>A (p.Gly65Asp) | not specified [RCV004872842] | uncertain significance | 8 | 17543533 | 17543533 | Human | | name |
| 598260068 | CV3922009 | single nucleotide variant | NM_001370338.1(SLC7A2):c.166G>A (p.Ala56Thr) | not specified [RCV005279711] | uncertain significance | 8 | 17543505 | 17543505 | Human | | name |
| 598260089 | CV3922013 | single nucleotide variant | NM_001370338.1(SLC7A2):c.136A>G (p.Ser46Gly) | not specified [RCV005279715] | uncertain significance | 8 | 17543475 | 17543475 | Human | | name |
| 15176048 | CV700494 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1522C>T (p.Leu508=) | not provided [RCV000950733] | benign | 8 | 17561961 | 17561961 | Human | | name |
| 15101030 | CV700495 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1713G>C (p.Val571=) | not provided [RCV000959006] | benign | 8 | 17563644 | 17563644 | Human | | name |
| 15145921 | CV711424 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1218C>T (p.Asp406=) | not provided [RCV000967080] | benign | 8 | 17558317 | 17558317 | Human | | name |
| 8632919 | CV88134 | single nucleotide variant | NM_001008539.3(SLC7A2):c.1626C>T (p.Leu542=) | Malignant melanoma [RCV000068226] | not provided | 8 | 17562065 | 17562065 | Human | | name |
| 8632920 | CV88135 | single nucleotide variant | NM_001008539.3(SLC7A2):c.1947C>T (p.Phe649=) | Malignant melanoma [RCV000068227] | not provided | 8 | 17565116 | 17565116 | Human | | name |
| 156329241 | CV2213799 | single nucleotide variant | NM_001370338.1(SLC7A2):c.368A>G (p.Tyr123Cys) | not specified [RCV004089859] | uncertain significance | 8 | 17543707 | 17543707 | Human | | name |
| 156027563 | CV2278441 | single nucleotide variant | NM_001370338.1(SLC7A2):c.612T>G (p.Phe204Leu) | not specified [RCV004132895] | uncertain significance | 8 | 17548757 | 17548757 | Human | | name |
| 156251668 | CV2286871 | single nucleotide variant | NM_001370338.1(SLC7A2):c.455C>T (p.Thr152Ile) | not specified [RCV004142670] | uncertain significance | 8 | 17544529 | 17544529 | Human | | name |
| 156344549 | CV2294116 | single nucleotide variant | NM_001370338.1(SLC7A2):c.800C>T (p.Ala267Val) | not specified [RCV004149486] | uncertain significance | 8 | 17550402 | 17550402 | Human | | name |
| 156191622 | CV2301825 | single nucleotide variant | NM_001370338.1(SLC7A2):c.971C>T (p.Pro324Leu) | not specified [RCV004156621] | uncertain significance | 8 | 17551902 | 17551902 | Human | | name |
| 155955783 | CV2303951 | single nucleotide variant | NM_001370338.1(SLC7A2):c.468G>A (p.Met156Ile) | not specified [RCV004168222] | uncertain significance | 8 | 17544542 | 17544542 | Human | | name |
| 156070214 | CV2355978 | single nucleotide variant | NM_001370338.1(SLC7A2):c.764C>T (p.Thr255Met) | not specified [RCV004201357] | uncertain significance | 8 | 17550366 | 17550366 | Human | | name |
| 156050547 | CV2378465 | single nucleotide variant | NM_001370338.1(SLC7A2):c.731A>T (p.Tyr244Phe) | not specified [RCV004228523] | uncertain significance | 8 | 17550333 | 17550333 | Human | | name |
| 156088166 | CV2388342 | single nucleotide variant | NM_001370338.1(SLC7A2):c.952C>G (p.Leu318Val) | not specified [RCV004234793] | uncertain significance | 8 | 17551883 | 17551883 | Human | | name |
| 329377061 | CV2451678 | single nucleotide variant | NM_001370338.1(SLC7A2):c.424C>G (p.Leu142Val) | not specified [RCV004274593] | uncertain significance | 8 | 17544498 | 17544498 | Human | | name |
| 401738561 | CV2676321 | single nucleotide variant | NM_001370338.1(SLC7A2):c.660T>G (p.Ile220Met) | not specified [RCV004286355] | uncertain significance | 8 | 17548805 | 17548805 | Human | | name |
| 401775501 | CV2710592 | single nucleotide variant | NM_001370338.1(SLC7A2):c.508G>T (p.Val170Leu) | not specified [RCV004319509] | uncertain significance | 8 | 17544582 | 17544582 | Human | | name |
| 401774645 | CV2713585 | single nucleotide variant | NM_001370338.1(SLC7A2):c.943C>A (p.Pro315Thr) | not specified [RCV004320964] | uncertain significance | 8 | 17551874 | 17551874 | Human | | name |
| 401894115 | CV2770312 | single nucleotide variant | NM_001370338.1(SLC7A2):c.394A>G (p.Arg132Gly) | not specified [RCV004356188] | uncertain significance | 8 | 17544468 | 17544468 | Human | | name |
| 405287327 | CV3210636 | single nucleotide variant | NM_001370338.1(SLC7A2):c.313G>C (p.Val105Leu) | SLC7A2-related disorder [RCV003924407] | benign | 8 | 17543652 | 17543652 | Human | | name , trait , alternate_id |
| 405770438 | CV3322251 | single nucleotide variant | NM_001370338.1(SLC7A2):c.305A>G (p.Tyr102Cys) | not specified [RCV004456882] | uncertain significance | 8 | 17543644 | 17543644 | Human | | name |
| 405770445 | CV3322252 | single nucleotide variant | NM_001370338.1(SLC7A2):c.652T>C (p.Trp218Arg) | not specified [RCV004456883] | uncertain significance | 8 | 17548797 | 17548797 | Human | | name |
| 405770452 | CV3322253 | single nucleotide variant | NM_001370338.1(SLC7A2):c.680A>G (p.Asn227Ser) | not specified [RCV004456884] | uncertain significance | 8 | 17548825 | 17548825 | Human | | name |
| 405770458 | CV3322254 | single nucleotide variant | NM_001370338.1(SLC7A2):c.707C>T (p.Pro236Leu) | not specified [RCV004456885] | uncertain significance | 8 | 17550309 | 17550309 | Human | | name |
| 407451951 | CV3481096 | single nucleotide variant | NM_001370338.1(SLC7A2):c.898T>C (p.Phe300Leu) | not specified [RCV004683858] | uncertain significance | 8 | 17551829 | 17551829 | Human | | name |
| 407451957 | CV3481098 | single nucleotide variant | NM_001370338.1(SLC7A2):c.540G>T (p.Leu180Phe) | not specified [RCV004683860] | uncertain significance | 8 | 17548685 | 17548685 | Human | | name |
| 407515688 | CV3481101 | single nucleotide variant | NM_001370338.1(SLC7A2):c.479G>T (p.Gly160Val) | not specified [RCV004675017] | uncertain significance | 8 | 17544553 | 17544553 | Human | | name |
| 407515693 | CV3481103 | single nucleotide variant | NM_001370338.1(SLC7A2):c.322G>A (p.Gly108Arg) | not specified [RCV004675019] | uncertain significance | 8 | 17543661 | 17543661 | Human | | name |
| 597776597 | CV3606724 | single nucleotide variant | NM_001370338.1(SLC7A2):c.718G>A (p.Gly240Arg) | not specified [RCV004872839] | uncertain significance | 8 | 17550320 | 17550320 | Human | | name |
| 597776602 | CV3606725 | single nucleotide variant | NM_001370338.1(SLC7A2):c.535C>G (p.Leu179Val) | not specified [RCV004872840] | uncertain significance | 8 | 17548680 | 17548680 | Human | | name |
| 598260099 | CV3922015 | single nucleotide variant | NM_001370338.1(SLC7A2):c.958G>A (p.Asp320Asn) | not specified [RCV005279717] | uncertain significance | 8 | 17551889 | 17551889 | Human | | name |
| 8632918 | CV88133 | single nucleotide variant | NM_001008539.3(SLC7A2):c.355C>T (p.Leu119Phe) | Malignant melanoma [RCV000068225] | not provided | 8 | 17543694 | 17543694 | Human | | name |
| 156381979 | CV2212512 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1297A>G (p.Arg433Gly) | not specified [RCV004091396] | uncertain significance | 8 | 17558396 | 17558396 | Human | | name |
| 156190404 | CV2226903 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1334G>A (p.Cys445Tyr) | not specified [RCV004103877] | likely benign | 8 | 17560363 | 17560363 | Human | | name |
| 156036622 | CV2243596 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1103C>T (p.Ala368Val) | not specified [RCV004114325] | uncertain significance | 8 | 17554607 | 17554607 | Human | | name |
| 156038012 | CV2278893 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1811G>C (p.Arg604Thr) | not specified [RCV004145595] | uncertain significance | 8 | 17564980 | 17564980 | Human | | name |
| 155998110 | CV2288702 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1430G>A (p.Arg477Gln) | not specified [RCV004153993] | uncertain significance | 8 | 17560459 | 17560459 | Human | | name |
| 156012651 | CV2291285 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1339C>A (p.Pro447Thr) | not specified [RCV004153565] | uncertain significance | 8 | 17560368 | 17560368 | Human | | name |
| 156188019 | CV2292509 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1124A>T (p.Lys375Ile) | not specified [RCV004150288] | uncertain significance | 8 | 17554628 | 17554628 | Human | | name |
| 156150959 | CV2307519 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1355T>A (p.Leu452Gln) | not specified [RCV004166165] | uncertain significance | 8 | 17560384 | 17560384 | Human | | name |
| 156290418 | CV2324903 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1847A>G (p.Asn616Ser) | not specified [RCV004175168] | uncertain significance | 8 | 17565016 | 17565016 | Human | | name |
| 155921576 | CV2350691 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1088T>C (p.Val363Ala) | not specified [RCV004207040] | uncertain significance | 8 | 17554592 | 17554592 | Human | | name |
| 156063856 | CV2352848 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1429C>T (p.Arg477Trp) | not specified [RCV004198853] | uncertain significance | 8 | 17560458 | 17560458 | Human | | name |
| 156282663 | CV2363146 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1723T>A (p.Leu575Met) | not specified [RCV004211269] | uncertain significance | 8 | 17563654 | 17563654 | Human | | name |
| 156093880 | CV2389749 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1535C>G (p.Thr512Ser) | not specified [RCV004243795] | uncertain significance | 8 | 17561974 | 17561974 | Human | | name |
| 329356210 | CV2430635 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1435C>T (p.Leu479Phe) | not specified [RCV004253827] | uncertain significance | 8 | 17560464 | 17560464 | Human | | name |
| 329398055 | CV2466584 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1872C>A (p.Asn624Lys) | not specified [RCV004274116] | uncertain significance | 8 | 17565041 | 17565041 | Human | | name |
| 401729428 | CV2683677 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1111G>A (p.Gly371Arg) | not specified [RCV004284426] | uncertain significance | 8 | 17554615 | 17554615 | Human | | name |
| 401860373 | CV2768569 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1882G>C (p.Ala628Pro) | not specified [RCV004344434] | uncertain significance | 8 | 17565051 | 17565051 | Human | | name |
| 405276182 | CV3193309 | insertion | NM_001370338.1(SLC7A2):c.-22-4388_-22-4387insC | SLC7A2-related disorder [RCV003974476] | benign | 8 | 17538930 | 17538931 | Human | | name , trait , alternate_id |
| 405288334 | CV3197299 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1127G>C (p.Cys376Ser) | SLC7A2-related disorder [RCV003982395] | benign | 8 | 17554631 | 17554631 | Human | | name , trait , alternate_id |
| 405283681 | CV3199692 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1591G>A (p.Ala531Thr) | SLC7A2-related disorder [RCV003979357] | benign | 8 | 17562030 | 17562030 | Human | | name , trait , alternate_id |
| 405255889 | CV3208350 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1924C>T (p.Pro642Ser) | SLC7A2-related disorder [RCV003939460] | likely benign | 8 | 17565093 | 17565093 | Human | | name , trait , alternate_id |
| 405770409 | CV3322246 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1157C>T (p.Thr386Ile) | not specified [RCV004456877] | uncertain significance | 8 | 17554661 | 17554661 | Human | | name |
| 405770418 | CV3322247 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1366C>G (p.Pro456Ala) | not specified [RCV004456878] | likely benign | 8 | 17560395 | 17560395 | Human | | name |
| 407451954 | CV3481097 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1078A>C (p.Met360Leu) | not specified [RCV004683859] | uncertain significance | 8 | 17554582 | 17554582 | Human | | name |
| 407515681 | CV3481099 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1715A>G (p.Asn572Ser) | not specified [RCV004675015] | uncertain significance | 8 | 17563646 | 17563646 | Human | | name |
| 407515684 | CV3481100 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1279G>A (p.Ala427Thr) | not specified [RCV004675016] | uncertain significance | 8 | 17558378 | 17558378 | Human | | name |
| 597725030 | CV3606721 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1091T>C (p.Ile364Thr) | not specified [RCV004862382] | uncertain significance | 8 | 17554595 | 17554595 | Human | | name |
| 597725039 | CV3606722 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1592C>T (p.Ala531Val) | not specified [RCV004862383] | likely benign | 8 | 17562031 | 17562031 | Human | | name |
| 597776593 | CV3606723 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1474T>G (p.Ser492Ala) | not specified [RCV004872838] | uncertain significance | 8 | 17560503 | 17560503 | Human | | name |
| 597776605 | CV3606726 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1105G>A (p.Glu369Lys) | not specified [RCV004872841] | uncertain significance | 8 | 17554609 | 17554609 | Human | | name |
| 597725047 | CV3606729 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1085G>A (p.Arg362His) | not specified [RCV004862384] | uncertain significance | 8 | 17554589 | 17554589 | Human | | name |
| 598260062 | CV3922008 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1927A>G (p.Arg643Gly) | not specified [RCV005279710] | uncertain significance | 8 | 17565096 | 17565096 | Human | | name |
| 598260078 | CV3922011 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1237A>G (p.Met413Val) | not specified [RCV005279713] | uncertain significance | 8 | 17558336 | 17558336 | Human | | name |
| 598260084 | CV3922012 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1397T>A (p.Val466Asp) | not specified [RCV005279714] | uncertain significance | 8 | 17560426 | 17560426 | Human | | name |
| 598260109 | CV3922017 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1247T>C (p.Ile416Thr) | not specified [RCV005279719] | uncertain significance | 8 | 17558346 | 17558346 | Human | | name |
| 598260118 | CV3922019 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1370G>A (p.Arg457Lys) | not specified [RCV005279721] | uncertain significance | 8 | 17560399 | 17560399 | Human | | name |
| 598260123 | CV3922020 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1142A>C (p.Asn381Thr) | not specified [RCV005279722] | uncertain significance | 8 | 17554646 | 17554646 | Human | | name |
| 13832731 | CV583668 | single nucleotide variant | NM_001370338.1(SLC7A2):c.1267T>C (p.Ser423Pro) | not provided [RCV000727673] | uncertain significance | 8 | 17558366 | 17558366 | Human | | name |
| 8626549 | CV81693 | single nucleotide variant | NM_001008539.3(SLC7A2):c.1060C>T (p.Leu354Phe) | Malignant melanoma [RCV000061771] | not provided | 8 | 17554564 | 17554564 | Human | | name |