| 401937518 | CV2815708 | single nucleotide variant | NM_021097.5(SLC8A1):c.1915+561G>A | not provided [RCV003415553] | likely benign | 2 | 40177826 | 40177826 | Human | | name |
| 8577174 | CV111545 | single nucleotide variant | NR_038441.1(SLC8A1-AS1):n.67+45656A>T | Lung cancer [RCV000092068] | uncertain significance | 2 | 39968545 | 39968545 | Human | | name |
| 401744991 | CV2693156 | single nucleotide variant | NM_021097.5(SLC8A1):c.7A>G (p.Asn3Asp) | not specified [RCV004293091] | uncertain significance | 2 | 40430274 | 40430274 | Human | | name |
| 15152664 | CV747631 | single nucleotide variant | NM_021097.5(SLC8A1):c.5A>T (p.Tyr2Phe) | not provided [RCV000923916] | likely benign | 2 | 40430276 | 40430276 | Human | | name |
| 156389027 | CV2376311 | single nucleotide variant | NM_021097.5(SLC8A1):c.23G>C (p.Ser8Thr) | not specified [RCV004222573] | uncertain significance | 2 | 40430258 | 40430258 | Human | | name |
| 597776771 | CV3606784 | single nucleotide variant | NM_021097.5(SLC8A1):c.43A>G (p.Met15Val) | not specified [RCV004872880] | uncertain significance | 2 | 40430238 | 40430238 | Human | | name |
| 598260299 | CV3922058 | single nucleotide variant | NM_021097.5(SLC8A1):c.35C>T (p.Thr12Ile) | not specified [RCV005279757] | uncertain significance | 2 | 40430246 | 40430246 | Human | | name |
| 401723478 | CV2674966 | single nucleotide variant | NM_021097.5(SLC8A1):c.283A>G (p.Ile95Val) | not specified [RCV004296274] | uncertain significance | 2 | 40429998 | 40429998 | Human | | name |
| 401911987 | CV2815707 | single nucleotide variant | NM_021097.5(SLC8A1):c.2175T>A (p.Thr725=) | not provided [RCV003426936] | likely benign | 2 | 40160859 | 40160859 | Human | | name |
| 597776779 | CV3606786 | single nucleotide variant | NM_021097.5(SLC8A1):c.286G>A (p.Ala96Thr) | not specified [RCV004872882] | uncertain significance | 2 | 40429995 | 40429995 | Human | | name |
| 597725180 | CV3606792 | single nucleotide variant | NM_021097.5(SLC8A1):c.115A>G (p.Met39Val) | not specified [RCV004862399] | uncertain significance | 2 | 40430166 | 40430166 | Human | | name |
| 15121216 | CV708274 | single nucleotide variant | NM_021097.5(SLC8A1):c.2715C>A (p.Gly905=) | not provided [RCV000962852] | benign | 2 | 40115460 | 40115460 | Human | | name |
| 15191456 | CV733471 | single nucleotide variant | NM_021097.5(SLC8A1):c.2785C>A (p.Arg929=) | not provided [RCV000910252] | benign | 2 | 40115390 | 40115390 | Human | | name |
| 15149006 | CV733472 | single nucleotide variant | NM_021097.5(SLC8A1):c.2256C>T (p.Ile752=) | not provided [RCV000900841] | likely benign | 2 | 40160778 | 40160778 | Human | | name |
| 15191459 | CV733473 | single nucleotide variant | NM_021097.5(SLC8A1):c.2040C>T (p.Asp680=) | not provided [RCV000910253] | likely benign | 2 | 40164983 | 40164983 | Human | | name |
| 15177570 | CV733474 | single nucleotide variant | NM_021097.5(SLC8A1):c.1563C>T (p.Leu521=) | not provided [RCV000906683] | benign | 2 | 40428718 | 40428718 | Human | | name |
| 15115094 | CV747627 | single nucleotide variant | NM_021097.5(SLC8A1):c.2625G>A (p.Ala875=) | not provided [RCV000917396] | benign | 2 | 40115550 | 40115550 | Human | | name |
| 15126176 | CV747628 | single nucleotide variant | NM_021097.5(SLC8A1):c.2451C>T (p.Phe817=) | not provided [RCV000919278] | likely benign | 2 | 40139495 | 40139495 | Human | | name |
| 15169141 | CV747629 | single nucleotide variant | NM_021097.5(SLC8A1):c.1713C>T (p.Ile571=) | not provided [RCV000927437] | likely benign | 2 | 40428568 | 40428568 | Human | | name |
| 15135591 | CV747630 | single nucleotide variant | NM_021097.5(SLC8A1):c.1008G>A (p.Lys336=) | not provided [RCV000920876] | likely benign | 2 | 40429273 | 40429273 | Human | | name |
| 156083958 | CV2249232 | single nucleotide variant | NM_021097.5(SLC8A1):c.916G>T (p.Gly306Cys) | not specified [RCV004118271] | uncertain significance | 2 | 40429365 | 40429365 | Human | | name |
| 156176605 | CV2258109 | single nucleotide variant | NM_021097.5(SLC8A1):c.845G>T (p.Arg282Met) | not specified [RCV004121501] | uncertain significance | 2 | 40429436 | 40429436 | Human | | name |
| 156350322 | CV2316187 | single nucleotide variant | NM_021097.5(SLC8A1):c.962A>T (p.Glu321Val) | not specified [RCV004174230] | uncertain significance | 2 | 40429319 | 40429319 | Human | | name |
| 401763107 | CV2710443 | single nucleotide variant | NM_021097.5(SLC8A1):c.634A>G (p.Ile212Val) | not specified [RCV004317597] | uncertain significance | 2 | 40429647 | 40429647 | Human | | name |
| 401783280 | CV2716236 | single nucleotide variant | NM_021097.5(SLC8A1):c.731T>C (p.Ile244Thr) | not specified [RCV004323457] | uncertain significance | 2 | 40429550 | 40429550 | Human | | name |
| 405770924 | CV3322333 | single nucleotide variant | NM_021097.5(SLC8A1):c.383G>A (p.Arg128Lys) | not specified [RCV004456964] | uncertain significance | 2 | 40429898 | 40429898 | Human | | name |
| 405770932 | CV3322334 | single nucleotide variant | NM_021097.5(SLC8A1):c.978G>T (p.Met326Ile) | not specified [RCV004456965] | uncertain significance | 2 | 40429303 | 40429303 | Human | | name |
| 407515751 | CV3481134 | single nucleotide variant | NM_021097.5(SLC8A1):c.877G>A (p.Gly293Arg) | not specified [RCV004675040] | uncertain significance | 2 | 40429404 | 40429404 | Human | | name |
| 407515756 | CV3481136 | single nucleotide variant | NM_021097.5(SLC8A1):c.629G>C (p.Trp210Ser) | not specified [RCV004675042] | uncertain significance | 2 | 40429652 | 40429652 | Human | | name |
| 407515760 | CV3481137 | single nucleotide variant | NM_021097.5(SLC8A1):c.575A>G (p.Asp192Gly) | not specified [RCV004675043] | uncertain significance | 2 | 40429706 | 40429706 | Human | | name |
| 407515767 | CV3481139 | single nucleotide variant | NM_021097.5(SLC8A1):c.563A>C (p.Tyr188Ser) | not specified [RCV004675045] | uncertain significance | 2 | 40429718 | 40429718 | Human | | name |
| 407515778 | CV3481142 | single nucleotide variant | NM_021097.5(SLC8A1):c.866T>C (p.Ile289Thr) | not specified [RCV004675048] | uncertain significance | 2 | 40429415 | 40429415 | Human | | name |
| 597776783 | CV3606789 | single nucleotide variant | NM_021097.5(SLC8A1):c.965C>T (p.Ala322Val) | not specified [RCV004872883] | uncertain significance | 2 | 40429316 | 40429316 | Human | | name |
| 597776796 | CV3606794 | single nucleotide variant | NM_021097.5(SLC8A1):c.732C>G (p.Ile244Met) | not specified [RCV004872886] | uncertain significance | 2 | 40429549 | 40429549 | Human | | name |
| 598260327 | CV3922064 | single nucleotide variant | NM_021097.5(SLC8A1):c.841G>C (p.Asp281His) | not specified [RCV005279762] | uncertain significance | 2 | 40429440 | 40429440 | Human | | name |
| 155986837 | CV2234037 | single nucleotide variant | NM_021097.5(SLC8A1):c.2283C>G (p.Asp761Glu) | not specified [RCV004106152] | uncertain significance | 2 | 40139663 | 40139663 | Human | | name |
| 156053622 | CV2242989 | single nucleotide variant | NM_021097.5(SLC8A1):c.2089C>T (p.Arg697Cys) | not specified [RCV004107868] | uncertain significance | 2 | 40164934 | 40164934 | Human | | name |
| 156078094 | CV2291714 | single nucleotide variant | NM_021097.5(SLC8A1):c.1567T>C (p.Ser523Pro) | not specified [RCV004157999] | uncertain significance | 2 | 40428714 | 40428714 | Human | | name |
| 156256707 | CV2307823 | single nucleotide variant | NM_021097.5(SLC8A1):c.2891T>C (p.Leu964Pro) | not specified [RCV004170289] | uncertain significance | 2 | 40115284 | 40115284 | Human | | name |
| 156056972 | CV2308967 | single nucleotide variant | NM_021097.5(SLC8A1):c.1776T>G (p.Cys592Trp) | not specified [RCV004169249] | uncertain significance | 2 | 40428505 | 40428505 | Human | | name |
| 155973389 | CV2332395 | single nucleotide variant | NM_021097.5(SLC8A1):c.2708C>T (p.Ser903Phe) | not specified [RCV004196127] | uncertain significance | 2 | 40115467 | 40115467 | Human | | name |
| 155973433 | CV2334436 | single nucleotide variant | NM_021097.5(SLC8A1):c.2821C>T (p.Arg941Trp) | not specified [RCV004188410] | uncertain significance | 2 | 40115354 | 40115354 | Human | | name |
| 155927531 | CV2349624 | single nucleotide variant | NM_021097.5(SLC8A1):c.2846G>T (p.Cys949Phe) | not specified [RCV004204045] | uncertain significance | 2 | 40115329 | 40115329 | Human | | name |
| 155967247 | CV2391322 | single nucleotide variant | NM_021097.5(SLC8A1):c.2254A>G (p.Ile752Val) | not specified [RCV004237684] | uncertain significance | 2 | 40160780 | 40160780 | Human | | name |
| 156100724 | CV2392966 | single nucleotide variant | NM_021097.5(SLC8A1):c.1540C>A (p.His514Asn) | not specified [RCV004242820] | uncertain significance | 2 | 40428741 | 40428741 | Human | | name |
| 156248003 | CV2396962 | single nucleotide variant | NM_021097.5(SLC8A1):c.1481A>G (p.His494Arg) | not specified [RCV004234072] | uncertain significance | 2 | 40428800 | 40428800 | Human | | name |
| 156222572 | CV2399782 | single nucleotide variant | NM_021097.5(SLC8A1):c.1657A>G (p.Ile553Val) | not specified [RCV004245593] | uncertain significance | 2 | 40428624 | 40428624 | Human | | name |
| 329374764 | CV2440015 | single nucleotide variant | NM_021097.5(SLC8A1):c.2472C>G (p.His824Gln) | not specified [RCV004260489] | uncertain significance | 2 | 40139474 | 40139474 | Human | | name |
| 329375887 | CV2441184 | single nucleotide variant | NM_021097.5(SLC8A1):c.1202C>A (p.Thr401Asn) | not specified [RCV004263580] | uncertain significance | 2 | 40429079 | 40429079 | Human | | name |
| 329355838 | CV2442352 | single nucleotide variant | NM_021097.5(SLC8A1):c.1534G>A (p.Ala512Thr) | not specified [RCV004266612] | uncertain significance | 2 | 40428747 | 40428747 | Human | | name |
| 329396382 | CV2462618 | single nucleotide variant | NM_021097.5(SLC8A1):c.2687A>T (p.Asn896Ile) | not specified [RCV004278562] | uncertain significance | 2 | 40115488 | 40115488 | Human | | name |
| 401728714 | CV2693762 | single nucleotide variant | NM_021097.5(SLC8A1):c.2584T>C (p.Tyr862His) | not specified [RCV004298086] | uncertain significance | 2 | 40115591 | 40115591 | Human | | name |
| 401892555 | CV2782198 | single nucleotide variant | NM_021097.5(SLC8A1):c.1899G>C (p.Glu633Asp) | not specified [RCV004359174] | uncertain significance | 2 | 40178403 | 40178403 | Human | | name |
| 405770862 | CV3322323 | single nucleotide variant | NM_021097.5(SLC8A1):c.1216G>C (p.Val406Leu) | not specified [RCV004456954] | uncertain significance | 2 | 40429065 | 40429065 | Human | | name |
| 405770869 | CV3322324 | single nucleotide variant | NM_021097.5(SLC8A1):c.1241G>A (p.Gly414Glu) | not specified [RCV004456955] | uncertain significance | 2 | 40429040 | 40429040 | Human | | name |
| 405770874 | CV3322325 | single nucleotide variant | NM_021097.5(SLC8A1):c.1315A>G (p.Thr439Ala) | not specified [RCV004456956] | uncertain significance | 2 | 40428966 | 40428966 | Human | | name |
| 405770881 | CV3322326 | single nucleotide variant | NM_021097.5(SLC8A1):c.1546T>A (p.Ser516Thr) | not specified [RCV004456957] | uncertain significance | 2 | 40428735 | 40428735 | Human | | name |
| 405770887 | CV3322327 | single nucleotide variant | NM_021097.5(SLC8A1):c.1634C>G (p.Pro545Arg) | not specified [RCV004456958] | uncertain significance | 2 | 40428647 | 40428647 | Human | | name |
| 405770894 | CV3322328 | single nucleotide variant | NM_021097.5(SLC8A1):c.1816A>G (p.Ile606Val) | not specified [RCV004456959] | uncertain significance | 2 | 40178486 | 40178486 | Human | | name |
| 405770900 | CV3322329 | single nucleotide variant | NM_021097.5(SLC8A1):c.2329G>T (p.Val777Leu) | not specified [RCV004456960] | uncertain significance | 2 | 40139617 | 40139617 | Human | | name |
| 405770905 | CV3322330 | single nucleotide variant | NM_021097.5(SLC8A1):c.2374G>A (p.Val792Ile) | not specified [RCV004456961] | uncertain significance | 2 | 40139572 | 40139572 | Human | | name |
| 405770911 | CV3322331 | single nucleotide variant | NM_021097.5(SLC8A1):c.2770G>A (p.Val924Met) | not specified [RCV004456962] | uncertain significance | 2 | 40115405 | 40115405 | Human | | name |
| 405770918 | CV3322332 | single nucleotide variant | NM_021097.5(SLC8A1):c.2830A>G (p.Lys944Glu) | not specified [RCV004456963] | uncertain significance | 2 | 40115345 | 40115345 | Human | | name |
| 407515753 | CV3481135 | single nucleotide variant | NM_021097.5(SLC8A1):c.1496A>T (p.Lys499Ile) | not specified [RCV004675041] | uncertain significance | 2 | 40428785 | 40428785 | Human | | name |
| 407515763 | CV3481138 | single nucleotide variant | NM_021097.5(SLC8A1):c.1748G>C (p.Gly583Ala) | not specified [RCV004675044] | uncertain significance | 2 | 40428533 | 40428533 | Human | | name |
| 407515771 | CV3481140 | single nucleotide variant | NM_021097.5(SLC8A1):c.1633C>G (p.Pro545Ala) | not specified [RCV004675046] | uncertain significance | 2 | 40428648 | 40428648 | Human | | name |
| 407515774 | CV3481141 | single nucleotide variant | NM_021097.5(SLC8A1):c.2083G>A (p.Glu695Lys) | not specified [RCV004675047] | uncertain significance | 2 | 40164940 | 40164940 | Human | | name |
| 597725145 | CV3606782 | single nucleotide variant | NM_021097.5(SLC8A1):c.1714G>C (p.Val572Leu) | not specified [RCV004862395] | uncertain significance | 2 | 40428567 | 40428567 | Human | | name |
| 597776765 | CV3606783 | single nucleotide variant | NM_021097.5(SLC8A1):c.2000G>C (p.Arg667Thr) | not specified [RCV004872879] | uncertain significance | 2 | 40170319 | 40170319 | Human | | name |
| 597776775 | CV3606785 | single nucleotide variant | NM_021097.5(SLC8A1):c.1973A>G (p.Gln658Arg) | not specified [RCV004872881] | uncertain significance | 2 | 40170346 | 40170346 | Human | | name |
| 597725154 | CV3606787 | single nucleotide variant | NM_021097.5(SLC8A1):c.1688C>T (p.Thr563Ile) | not specified [RCV004862396] | uncertain significance | 2 | 40428593 | 40428593 | Human | | name |
| 597725163 | CV3606788 | single nucleotide variant | NM_021097.5(SLC8A1):c.1862C>A (p.Thr621Asn) | not specified [RCV004862397] | uncertain significance | 2 | 40178440 | 40178440 | Human | | name |
| 597725171 | CV3606790 | single nucleotide variant | NM_021097.5(SLC8A1):c.2093T>C (p.Ile698Thr) | not specified [RCV004862398] | uncertain significance | 2 | 40164930 | 40164930 | Human | | name |
| 597776787 | CV3606791 | single nucleotide variant | NM_021097.5(SLC8A1):c.1805T>A (p.Ile602Asn) | not specified [RCV004872884] | uncertain significance | 2 | 40428476 | 40428476 | Human | | name |
| 597776793 | CV3606793 | single nucleotide variant | NM_021097.5(SLC8A1):c.1351G>T (p.Ala451Ser) | not specified [RCV004872885] | uncertain significance | 2 | 40428930 | 40428930 | Human | | name |
| 597776801 | CV3606795 | single nucleotide variant | NM_021097.5(SLC8A1):c.1748G>A (p.Gly583Asp) | not specified [RCV004872887] | uncertain significance | 2 | 40428533 | 40428533 | Human | | name |
| 598260304 | CV3922059 | single nucleotide variant | NM_021097.5(SLC8A1):c.1046C>G (p.Ala349Gly) | not specified [RCV005279758] | uncertain significance | 2 | 40429235 | 40429235 | Human | | name |
| 598260310 | CV3922060 | single nucleotide variant | NM_021097.5(SLC8A1):c.1523G>T (p.Gly508Val) | not specified [RCV005279759] | uncertain significance | 2 | 40428758 | 40428758 | Human | | name |
| 598260316 | CV3922061 | single nucleotide variant | NM_021097.5(SLC8A1):c.1477G>A (p.Val493Met) | not specified [RCV005279760] | uncertain significance | 2 | 40428804 | 40428804 | Human | | name |
| 598237638 | CV3922062 | single nucleotide variant | NM_021097.5(SLC8A1):c.2095G>A (p.Ala699Thr) | not specified [RCV005275694] | uncertain significance | 2 | 40164928 | 40164928 | Human | | name |
| 598260322 | CV3922063 | single nucleotide variant | NM_021097.5(SLC8A1):c.1078A>G (p.Ser360Gly) | not specified [RCV005279761] | uncertain significance | 2 | 40429203 | 40429203 | Human | | name |
| 598260333 | CV3922065 | single nucleotide variant | NM_021097.5(SLC8A1):c.2059C>T (p.Pro687Ser) | not specified [RCV005279763] | uncertain significance | 2 | 40164964 | 40164964 | Human | | name |
| 8625368 | CV80491 | single nucleotide variant | NM_001112800.1(SLC8A1):c.498C>T (p.Leu166=) | Malignant melanoma [RCV000060568] | not provided | 2 | 40429783 | 40429783 | Human | | name |
| 8630353 | CV85508 | single nucleotide variant | NM_001112800.1(SLC8A1):c.1995G>A (p.Pro665=) | Malignant melanoma [RCV000065591] | not provided | 2 | 40170309 | 40170309 | Human | | name |
| 41407584 | CV963010 | deletion | NM_021097.5(SLC8A1):c.1808+9112_1808+31346del | Megacolon [RCV001290043] | likely pathogenic | 2 | 40397127 | 40419361 | Human | 2 | name |
| 8630352 | CV85507 | single nucleotide variant | NM_001112800.1(SLC8A1):c.2104G>A (p.Gly702Arg) | Malignant melanoma [RCV000065590] | not provided | 2 | 40164904 | 40164904 | Human | | name |
| 8630354 | CV85509 | single nucleotide variant | NM_001112800.1(SLC8A1):c.1462G>A (p.Asp488Asn) | Malignant melanoma [RCV000065592] | not provided | 2 | 40428819 | 40428819 | Human | | name |