| 15109278 | CV774825 | single nucleotide variant | NM_032279.4(ATP13A4):c.739-9C>G | ATP13A4-related disorder [RCV003903122]|not provided [RCV000938314] | likely benign | 3 | 193484014 | 193484014 | Human | | name , trait , alternate_id |
| 405284467 | CV3196837 | single nucleotide variant | NM_032279.4(ATP13A4):c.1915+7A>G | ATP13A4-related disorder [RCV003979708] | benign | 3 | 193456993 | 193456993 | Human | | name , trait , alternate_id |
| 405291702 | CV3205979 | single nucleotide variant | NM_032279.4(ATP13A4):c.27C>T (p.His9=) | ATP13A4-related disorder [RCV003964076] | likely benign | 3 | 193554773 | 193554773 | Human | | name , trait , alternate_id |
| 155964213 | CV2194265 | single nucleotide variant | NM_032279.4(ATP13A4):c.12T>A (p.Phe4Leu) | not specified [RCV004079383] | uncertain significance | 3 | 193554788 | 193554788 | Human | | name |
| 156342396 | CV2343887 | single nucleotide variant | NM_032279.4(ATP13A4):c.28G>A (p.Ala10Thr) | not specified [RCV004193465] | uncertain significance | 3 | 193554772 | 193554772 | Human | | name |
| 401723563 | CV2724947 | single nucleotide variant | NM_032279.4(ATP13A4):c.71G>A (p.Gly24Asp) | not specified [RCV004319711] | uncertain significance | 3 | 193514861 | 193514861 | Human | | name |
| 401861096 | CV2758748 | single nucleotide variant | NM_032279.4(ATP13A4):c.86G>T (p.Gly29Val) | not specified [RCV004337807] | uncertain significance | 3 | 193514846 | 193514846 | Human | | name |
| 405291569 | CV3205801 | single nucleotide variant | NM_032279.4(ATP13A4):c.687C>T (p.Ile229=) | ATP13A4-related disorder [RCV003963931] | likely benign | 3 | 193489781 | 193489781 | Human | | name , trait , alternate_id |
| 405294387 | CV3214888 | single nucleotide variant | NM_032279.4(ATP13A4):c.840G>A (p.Leu280=) | ATP13A4-related disorder [RCV003934289] | likely benign | 3 | 193470962 | 193470962 | Human | | name , trait , alternate_id |
| 407521121 | CV3486861 | single nucleotide variant | NM_032279.4(ATP13A4):c.91C>T (p.Arg31Trp) | not specified [RCV004677184] | uncertain significance | 3 | 193514841 | 193514841 | Human | | name |
| 155985797 | CV2282418 | single nucleotide variant | NM_032279.4(ATP13A4):c.266T>C (p.Val89Ala) | not specified [RCV004133230] | uncertain significance | 3 | 193502608 | 193502608 | Human | | name |
| 156330515 | CV2339491 | single nucleotide variant | NM_032279.4(ATP13A4):c.235G>A (p.Asp79Asn) | not specified [RCV004194158] | uncertain significance | 3 | 193502639 | 193502639 | Human | | name |
| 156342879 | CV2344173 | single nucleotide variant | NM_032279.4(ATP13A4):c.112G>A (p.Gly38Arg) | not specified [RCV004195769] | uncertain significance | 3 | 193514820 | 193514820 | Human | | name |
| 156002389 | CV2399542 | single nucleotide variant | NM_032279.4(ATP13A4):c.172G>A (p.Val58Ile) | not specified [RCV004242796] | uncertain significance | 3 | 193514760 | 193514760 | Human | | name |
| 329371198 | CV2461974 | single nucleotide variant | NM_032279.4(ATP13A4):c.233C>A (p.Thr78Lys) | not specified [RCV004271868] | uncertain significance | 3 | 193514699 | 193514699 | Human | | name |
| 401923042 | CV2825142 | single nucleotide variant | NM_032279.4(ATP13A4):c.2319C>T (p.Asp773=) | not provided [RCV003434836] | likely benign | 3 | 193441586 | 193441586 | Human | | name |
| 405292608 | CV3192936 | single nucleotide variant | NM_032279.4(ATP13A4):c.2247C>T (p.Thr749=) | ATP13A4-related disorder [RCV003964642] | likely benign | 3 | 193442462 | 193442462 | Human | | name , trait , alternate_id |
| 405285252 | CV3202587 | single nucleotide variant | NM_032279.4(ATP13A4):c.1323G>A (p.Ala441=) | ATP13A4-related disorder [RCV003909842] | likely benign | 3 | 193465078 | 193465078 | Human | | name , trait , alternate_id |
| 405287434 | CV3205690 | single nucleotide variant | NM_032279.4(ATP13A4):c.2895G>T (p.Arg965=) | ATP13A4-related disorder [RCV003959811] | likely benign | 3 | 193414698 | 193414698 | Human | | name , trait , alternate_id |
| 405272875 | CV3210182 | single nucleotide variant | NM_032279.4(ATP13A4):c.1974A>T (p.Ile658=) | ATP13A4-related disorder [RCV003914422] | likely benign | 3 | 193454154 | 193454154 | Human | | name , trait , alternate_id |
| 405294329 | CV3214851 | single nucleotide variant | NM_032279.4(ATP13A4):c.2083T>C (p.Leu695=) | ATP13A4-related disorder [RCV003934261] | likely benign | 3 | 193448275 | 193448275 | Human | | name , trait , alternate_id |
| 407521146 | CV3486872 | single nucleotide variant | NM_032279.4(ATP13A4):c.262A>C (p.Lys88Gln) | not specified [RCV004677193] | uncertain significance | 3 | 193502612 | 193502612 | Human | | name |
| 15187858 | CV697993 | single nucleotide variant | NM_032279.4(ATP13A4):c.2481G>A (p.Gly827=) | not provided [RCV000953712] | benign | 3 | 193440596 | 193440596 | Human | | name |
| 15144841 | CV708738 | single nucleotide variant | NM_032279.4(ATP13A4):c.2947C>T (p.Leu983=) | ATP13A4-related disorder [RCV003905917]|not provided [RCV000966897] | benign | 3 | 193414646 | 193414646 | Human | | name , trait , alternate_id |
| 15144848 | CV708740 | single nucleotide variant | NM_032279.4(ATP13A4):c.1089C>T (p.Thr363=) | ATP13A4-related disorder [RCV003905918]|not provided [RCV000966898] | benign|likely benign | 3 | 193467341 | 193467341 | Human | | name , trait , alternate_id |
| 15166826 | CV708741 | single nucleotide variant | NM_032279.4(ATP13A4):c.182A>G (p.His61Arg) | ATP13A4-related disorder [RCV003936115]|not provided [RCV000971268] | likely benign | 3 | 193514750 | 193514750 | Human | | name , trait , alternate_id |
| 15124790 | CV748152 | single nucleotide variant | NM_032279.4(ATP13A4):c.1695C>T (p.Asp565=) | not provided [RCV000919041] | likely benign | 3 | 193457445 | 193457445 | Human | | name |
| 150435418 | CV1221636 | single nucleotide variant | NM_032279.4(ATP13A4):c.543A>G (p.Ile181Met) | not provided [RCV001609324] | benign | 3 | 193491389 | 193491389 | Human | | name |
| 156115575 | CV2221503 | single nucleotide variant | NM_032279.4(ATP13A4):c.581T>C (p.Ile194Thr) | not specified [RCV004096777] | uncertain significance | 3 | 193491351 | 193491351 | Human | | name |
| 156030920 | CV2278764 | single nucleotide variant | NM_032279.4(ATP13A4):c.398T>G (p.Val133Gly) | not specified [RCV004134949] | uncertain significance | 3 | 193493144 | 193493144 | Human | | name |
| 156017486 | CV2302538 | single nucleotide variant | NM_032279.4(ATP13A4):c.932G>A (p.Gly311Asp) | not specified [RCV004160717] | uncertain significance | 3 | 193470870 | 193470870 | Human | | name |
| 156059538 | CV2323015 | single nucleotide variant | NM_032279.4(ATP13A4):c.298G>T (p.Ala100Ser) | not specified [RCV004185443] | uncertain significance | 3 | 193502576 | 193502576 | Human | | name |
| 156118763 | CV2353977 | single nucleotide variant | NM_032279.4(ATP13A4):c.622A>G (p.Ile208Val) | not specified [RCV004204413] | uncertain significance | 3 | 193489846 | 193489846 | Human | | name |
| 156145818 | CV2357890 | single nucleotide variant | NM_032279.4(ATP13A4):c.784A>G (p.Thr262Ala) | not specified [RCV004209680] | uncertain significance | 3 | 193483960 | 193483960 | Human | | name |
| 401727116 | CV2684476 | single nucleotide variant | NM_032279.4(ATP13A4):c.407T>C (p.Ile136Thr) | not specified [RCV004291549] | uncertain significance | 3 | 193493135 | 193493135 | Human | | name |
| 401867382 | CV2773477 | single nucleotide variant | NM_032279.4(ATP13A4):c.574A>C (p.Thr192Pro) | not specified [RCV004354110] | uncertain significance | 3 | 193491358 | 193491358 | Human | | name |
| 401866105 | CV2786152 | single nucleotide variant | NM_032279.4(ATP13A4):c.665A>G (p.Tyr222Cys) | not specified [RCV004359958] | uncertain significance | 3 | 193489803 | 193489803 | Human | | name |
| 404988814 | CV2849675 | single nucleotide variant | NM_032279.4(ATP13A4):c.490C>T (p.Gln164Ter) | not provided [RCV003490494] | uncertain significance | 3 | 193492960 | 193492960 | Human | | name |
| 405703926 | CV3301213 | single nucleotide variant | NM_032279.4(ATP13A4):c.860T>C (p.Ile287Thr) | not specified [RCV004425811] | uncertain significance | 3 | 193470942 | 193470942 | Human | | name |
| 405703935 | CV3301214 | single nucleotide variant | NM_032279.4(ATP13A4):c.968C>T (p.Thr323Ile) | not specified [RCV004425812] | uncertain significance | 3 | 193467462 | 193467462 | Human | | name |
| 407521099 | CV3486853 | single nucleotide variant | NM_032279.4(ATP13A4):c.785C>T (p.Thr262Met) | not specified [RCV004677176] | uncertain significance | 3 | 193483959 | 193483959 | Human | | name |
| 407521124 | CV3486862 | single nucleotide variant | NM_032279.4(ATP13A4):c.894T>G (p.Asp298Glu) | not specified [RCV004677185] | uncertain significance | 3 | 193470908 | 193470908 | Human | | name |
| 407521130 | CV3486865 | single nucleotide variant | NM_032279.4(ATP13A4):c.438G>T (p.Gln146His) | not specified [RCV004677187] | uncertain significance | 3 | 193493104 | 193493104 | Human | | name |
| 597750964 | CV3619728 | single nucleotide variant | NM_032279.4(ATP13A4):c.832C>T (p.Arg278Cys) | not specified [RCV004866821] | uncertain significance | 3 | 193470970 | 193470970 | Human | | name |
| 597751013 | CV3619740 | single nucleotide variant | NM_032279.4(ATP13A4):c.898G>A (p.Val300Ile) | not specified [RCV004866832] | likely benign | 3 | 193470904 | 193470904 | Human | | name |
| 597751107 | CV3619762 | single nucleotide variant | NM_032279.4(ATP13A4):c.709A>T (p.Ile237Leu) | not specified [RCV004866853] | uncertain significance | 3 | 193489759 | 193489759 | Human | | name |
| 597751157 | CV3619773 | single nucleotide variant | NM_032279.4(ATP13A4):c.311C>T (p.Thr104Ile) | not specified [RCV004866864] | uncertain significance | 3 | 193502563 | 193502563 | Human | | name |
| 597751460 | CV3619850 | single nucleotide variant | NM_032279.4(ATP13A4):c.469C>A (p.Leu157Ile) | not specified [RCV004866932] | uncertain significance | 3 | 193492981 | 193492981 | Human | | name |
| 598163556 | CV3913228 | single nucleotide variant | NM_032279.4(ATP13A4):c.451G>A (p.Gly151Ser) | not specified [RCV005283142] | uncertain significance | 3 | 193493091 | 193493091 | Human | | name |
| 598209440 | CV3913244 | single nucleotide variant | NM_032279.4(ATP13A4):c.944G>A (p.Gly315Glu) | not specified [RCV005291699] | uncertain significance | 3 | 193467486 | 193467486 | Human | | name |
| 598209547 | CV3913268 | single nucleotide variant | NM_032279.4(ATP13A4):c.787G>T (p.Val263Phe) | not specified [RCV005291718] | uncertain significance | 3 | 193483957 | 193483957 | Human | | name |
| 15158228 | CV708736 | single nucleotide variant | NM_032279.4(ATP13A4):c.3573C>T (p.Ser1191=) | not provided [RCV000969466] | benign | 3 | 193402670 | 193402670 | Human | | name |
| 15158233 | CV708737 | single nucleotide variant | NM_032279.4(ATP13A4):c.3405G>A (p.Leu1135=) | not provided [RCV000969467] | benign | 3 | 193402838 | 193402838 | Human | | name |
| 155966909 | CV2216768 | single nucleotide variant | NM_032279.4(ATP13A4):c.2698T>G (p.Ser900Ala) | not specified [RCV004083211] | uncertain significance | 3 | 193435719 | 193435719 | Human | | name |
| 155930146 | CV2224672 | single nucleotide variant | NM_032279.4(ATP13A4):c.1508C>G (p.Ser503Cys) | not specified [RCV004092515] | uncertain significance | 3 | 193462777 | 193462777 | Human | | name |
| 155932842 | CV2228750 | single nucleotide variant | NM_032279.4(ATP13A4):c.1276C>A (p.Pro426Thr) | not specified [RCV004093222] | uncertain significance | 3 | 193465125 | 193465125 | Human | | name |
| 156071438 | CV2229184 | single nucleotide variant | NM_032279.4(ATP13A4):c.1943A>C (p.Gln648Pro) | not specified [RCV004101007] | uncertain significance | 3 | 193454185 | 193454185 | Human | | name |
| 155946363 | CV2238109 | single nucleotide variant | NM_032279.4(ATP13A4):c.1495T>C (p.Trp499Arg) | not specified [RCV004111124] | uncertain significance | 3 | 193462790 | 193462790 | Human | | name |
| 156219324 | CV2254040 | single nucleotide variant | NM_032279.4(ATP13A4):c.2890G>A (p.Gly964Arg) | not specified [RCV004129491] | uncertain significance | 3 | 193414703 | 193414703 | Human | | name |
| 155970405 | CV2262230 | single nucleotide variant | NM_032279.4(ATP13A4):c.1775G>A (p.Gly592Glu) | not specified [RCV004128445] | uncertain significance | 3 | 193457140 | 193457140 | Human | | name |
| 156024841 | CV2273914 | single nucleotide variant | NM_032279.4(ATP13A4):c.1040T>C (p.Leu347Pro) | not specified [RCV004134322] | uncertain significance | 3 | 193467390 | 193467390 | Human | | name |
| 156045671 | CV2308102 | single nucleotide variant | NM_032279.4(ATP13A4):c.2092G>A (p.Glu698Lys) | not specified [RCV004170521] | uncertain significance | 3 | 193448266 | 193448266 | Human | | name |
| 156052168 | CV2320282 | single nucleotide variant | NM_032279.4(ATP13A4):c.2945G>A (p.Ser982Asn) | not specified [RCV004178450] | uncertain significance | 3 | 193414648 | 193414648 | Human | | name |
| 156079065 | CV2341231 | single nucleotide variant | NM_032279.4(ATP13A4):c.2543A>G (p.Asp848Gly) | not specified [RCV004186645] | uncertain significance | 3 | 193439042 | 193439042 | Human | | name |
| 156006616 | CV2357793 | single nucleotide variant | NM_032279.4(ATP13A4):c.2656G>A (p.Val886Ile) | not specified [RCV004205082] | uncertain significance | 3 | 193438491 | 193438491 | Human | | name |
| 156001528 | CV2391926 | single nucleotide variant | NM_032279.4(ATP13A4):c.1958A>G (p.Gln653Arg) | not specified [RCV004235792] | uncertain significance | 3 | 193454170 | 193454170 | Human | | name |
| 156228708 | CV2393053 | single nucleotide variant | NM_032279.4(ATP13A4):c.2096C>G (p.Thr699Arg) | not specified [RCV004242903] | uncertain significance | 3 | 193448262 | 193448262 | Human | | name |
| 156320257 | CV2400350 | single nucleotide variant | NM_032279.4(ATP13A4):c.2845A>C (p.Asn949His) | not specified [RCV004244405] | uncertain significance | 3 | 193414748 | 193414748 | Human | | name |
| 329393516 | CV2467055 | single nucleotide variant | NM_032279.4(ATP13A4):c.1868T>C (p.Met623Thr) | not specified [RCV004282795] | uncertain significance | 3 | 193457047 | 193457047 | Human | | name |
| 401734587 | CV2709547 | single nucleotide variant | NM_032279.4(ATP13A4):c.2725C>G (p.Leu909Val) | not specified [RCV004318781] | uncertain significance | 3 | 193435692 | 193435692 | Human | | name |
| 401769970 | CV2710770 | single nucleotide variant | NM_032279.4(ATP13A4):c.1590G>A (p.Met530Ile) | not specified [RCV004308704] | uncertain significance | 3 | 193459165 | 193459165 | Human | | name |
| 401891936 | CV2777150 | single nucleotide variant | NM_032279.4(ATP13A4):c.1731G>C (p.Met577Ile) | not specified [RCV004354197] | uncertain significance | 3 | 193457409 | 193457409 | Human | | name |
| 401898652 | CV2782582 | single nucleotide variant | NM_032279.4(ATP13A4):c.2344G>A (p.Val782Ile) | not specified [RCV004359615] | uncertain significance | 3 | 193441561 | 193441561 | Human | | name |
| 405292263 | CV3199835 | single nucleotide variant | NM_032279.4(ATP13A4):c.2119A>G (p.Ile707Val) | ATP13A4-related disorder [RCV003964426] | benign | 3 | 193448239 | 193448239 | Human | | name , trait , alternate_id |
| 405270928 | CV3212150 | single nucleotide variant | NM_032279.4(ATP13A4):c.2111A>C (p.Glu704Ala) | ATP13A4-related disorder [RCV003949516] | likely benign | 3 | 193448247 | 193448247 | Human | | name , trait , alternate_id |
| 405266000 | CV3221030 | single nucleotide variant | NM_032279.4(ATP13A4):c.1030C>T (p.Arg344Trp) | ATP13A4-related disorder [RCV003969164] | likely benign | 3 | 193467400 | 193467400 | Human | | name , trait , alternate_id |
| 405703728 | CV3301188 | single nucleotide variant | NM_032279.4(ATP13A4):c.1199G>T (p.Arg400Met) | not specified [RCV004425786] | uncertain significance | 3 | 193466098 | 193466098 | Human | | name |
| 405703738 | CV3301189 | single nucleotide variant | NM_032279.4(ATP13A4):c.1200G>C (p.Arg400Ser) | not specified [RCV004425787] | uncertain significance | 3 | 193466097 | 193466097 | Human | | name |
| 405703750 | CV3301190 | single nucleotide variant | NM_032279.4(ATP13A4):c.1241T>C (p.Ile414Thr) | not specified [RCV004425788] | uncertain significance | 3 | 193466056 | 193466056 | Human | | name |
| 405703755 | CV3301191 | single nucleotide variant | NM_032279.4(ATP13A4):c.1322C>T (p.Ala441Val) | not specified [RCV004425789] | uncertain significance | 3 | 193465079 | 193465079 | Human | | name |
| 405703762 | CV3301192 | single nucleotide variant | NM_032279.4(ATP13A4):c.1369G>A (p.Ala457Thr) | not specified [RCV004425790] | uncertain significance | 3 | 193465032 | 193465032 | Human | | name |
| 405703768 | CV3301193 | single nucleotide variant | NM_032279.4(ATP13A4):c.1370C>T (p.Ala457Val) | not specified [RCV004425791] | uncertain significance | 3 | 193465031 | 193465031 | Human | | name |
| 405703776 | CV3301194 | single nucleotide variant | NM_032279.4(ATP13A4):c.1393G>C (p.Gly465Arg) | not specified [RCV004425792] | uncertain significance | 3 | 193465008 | 193465008 | Human | | name |
| 405703783 | CV3301195 | single nucleotide variant | NM_032279.4(ATP13A4):c.1412C>T (p.Pro471Leu) | not specified [RCV004425793] | uncertain significance | 3 | 193464989 | 193464989 | Human | | name |
| 405703791 | CV3301196 | single nucleotide variant | NM_032279.4(ATP13A4):c.1916T>G (p.Val639Gly) | not specified [RCV004425794] | uncertain significance | 3 | 193454212 | 193454212 | Human | | name |
| 405703804 | CV3301197 | single nucleotide variant | NM_032279.4(ATP13A4):c.1919C>T (p.Pro640Leu) | not specified [RCV004425795] | uncertain significance | 3 | 193454209 | 193454209 | Human | | name |
| 405703809 | CV3301198 | single nucleotide variant | NM_032279.4(ATP13A4):c.1952C>T (p.Thr651Met) | not specified [RCV004425796] | uncertain significance | 3 | 193454176 | 193454176 | Human | | name |
| 405703824 | CV3301200 | single nucleotide variant | NM_032279.4(ATP13A4):c.2115G>T (p.Glu705Asp) | not specified [RCV004425798] | uncertain significance | 3 | 193448243 | 193448243 | Human | | name |
| 405703835 | CV3301201 | single nucleotide variant | NM_032279.4(ATP13A4):c.2266A>G (p.Ile756Val) | not specified [RCV004425799] | uncertain significance | 3 | 193442443 | 193442443 | Human | | name |
| 405703841 | CV3301202 | single nucleotide variant | NM_032279.4(ATP13A4):c.2553T>G (p.Asn851Lys) | not specified [RCV004425800] | uncertain significance | 3 | 193439032 | 193439032 | Human | | name |
| 405703849 | CV3301203 | single nucleotide variant | NM_032279.4(ATP13A4):c.2594T>C (p.Leu865Ser) | not specified [RCV004425801] | uncertain significance | 3 | 193438553 | 193438553 | Human | | name |
| 405703863 | CV3301205 | single nucleotide variant | NM_032279.4(ATP13A4):c.2846A>G (p.Asn949Ser) | not specified [RCV004425803] | uncertain significance | 3 | 193414747 | 193414747 | Human | | name |
| 405703870 | CV3301206 | single nucleotide variant | NM_032279.4(ATP13A4):c.2894G>A (p.Arg965Gln) | not specified [RCV004425804] | uncertain significance | 3 | 193414699 | 193414699 | Human | | name |
| 405703879 | CV3301207 | single nucleotide variant | NM_032279.4(ATP13A4):c.2963C>T (p.Ala988Val) | not specified [RCV004425805] | likely benign | 3 | 193414630 | 193414630 | Human | | name |
| 407521015 | CV3486819 | single nucleotide variant | NM_032279.4(ATP13A4):c.2011G>A (p.Ala671Thr) | not specified [RCV004677147] | likely benign | 3 | 193454117 | 193454117 | Human | | name |
| 407521043 | CV3486831 | single nucleotide variant | NM_032279.4(ATP13A4):c.2345T>C (p.Val782Ala) | not specified [RCV004677158] | uncertain significance | 3 | 193441560 | 193441560 | Human | | name |
| 407521074 | CV3486842 | single nucleotide variant | NM_032279.4(ATP13A4):c.2035G>A (p.Val679Ile) | not specified [RCV004677167] | uncertain significance | 3 | 193448323 | 193448323 | Human | | name |
| 407521127 | CV3486864 | single nucleotide variant | NM_032279.4(ATP13A4):c.2932A>C (p.Asn978His) | not specified [RCV004677186] | uncertain significance | 3 | 193414661 | 193414661 | Human | | name |
| 407461156 | CV3486870 | single nucleotide variant | NM_032279.4(ATP13A4):c.2332A>T (p.Ile778Phe) | not specified [RCV004687581] | uncertain significance | 3 | 193441573 | 193441573 | Human | | name |
| 407521186 | CV3486887 | single nucleotide variant | NM_032279.4(ATP13A4):c.1019C>T (p.Ala340Val) | not specified [RCV004677208] | uncertain significance | 3 | 193467411 | 193467411 | Human | | name |
| 407461172 | CV3486896 | single nucleotide variant | NM_032279.4(ATP13A4):c.2006A>G (p.His669Arg) | not specified [RCV004687585] | uncertain significance | 3 | 193454122 | 193454122 | Human | | name |
| 407521236 | CV3486907 | single nucleotide variant | NM_032279.4(ATP13A4):c.1638C>G (p.Asp546Glu) | not specified [RCV004677223] | uncertain significance | 3 | 193459117 | 193459117 | Human | | name |
| 407521284 | CV3486928 | single nucleotide variant | NM_032279.4(ATP13A4):c.2951C>T (p.Ala984Val) | not specified [RCV004677241] | uncertain significance | 3 | 193414642 | 193414642 | Human | | name |
| 597751058 | CV3619751 | single nucleotide variant | NM_032279.4(ATP13A4):c.2534T>A (p.Met845Lys) | not specified [RCV004866842] | uncertain significance | 3 | 193439051 | 193439051 | Human | | name |
| 597751276 | CV3619799 | single nucleotide variant | NM_032279.4(ATP13A4):c.2423G>T (p.Ser808Ile) | not specified [RCV004866889] | uncertain significance | 3 | 193441482 | 193441482 | Human | | name |
| 597751324 | CV3619809 | single nucleotide variant | NM_032279.4(ATP13A4):c.2857G>A (p.Ala953Thr) | not specified [RCV004866899] | uncertain significance | 3 | 193414736 | 193414736 | Human | | name |
| 597751546 | CV3619870 | single nucleotide variant | NM_032279.4(ATP13A4):c.2503G>A (p.Glu835Lys) | not specified [RCV004866951] | uncertain significance | 3 | 193440574 | 193440574 | Human | | name |
| 12836691 | CV367335 | single nucleotide variant | NM_032279.4(ATP13A4):c.1396A>G (p.Ile466Val) | not provided [RCV000423845] | uncertain significance | 3 | 193465005 | 193465005 | Human | | name |
| 598163485 | CV3913187 | single nucleotide variant | NM_032279.4(ATP13A4):c.1046G>A (p.Cys349Tyr) | not specified [RCV005283130] | uncertain significance | 3 | 193467384 | 193467384 | Human | | name |
| 598209323 | CV3913207 | single nucleotide variant | NM_032279.4(ATP13A4):c.1214T>G (p.Leu405Arg) | not specified [RCV005291673] | uncertain significance | 3 | 193466083 | 193466083 | Human | | name |
| 598209356 | CV3913218 | single nucleotide variant | NM_032279.4(ATP13A4):c.2446A>G (p.Ile816Val) | not specified [RCV005291680] | uncertain significance | 3 | 193440631 | 193440631 | Human | | name |
| 598163550 | CV3913221 | single nucleotide variant | NM_032279.4(ATP13A4):c.2563G>A (p.Ala855Thr) | not specified [RCV005283141] | uncertain significance | 3 | 193438584 | 193438584 | Human | | name |
| 598209404 | CV3913234 | single nucleotide variant | NM_032279.4(ATP13A4):c.2795A>G (p.Gln932Arg) | not specified [RCV005291693] | uncertain significance | 3 | 193433892 | 193433892 | Human | | name |
| 598209482 | CV3913254 | single nucleotide variant | NM_032279.4(ATP13A4):c.1879C>A (p.Pro627Thr) | not specified [RCV005291707] | uncertain significance | 3 | 193457036 | 193457036 | Human | | name |
| 598209498 | CV3913258 | single nucleotide variant | NM_032279.4(ATP13A4):c.2531G>A (p.Gly844Asp) | not specified [RCV005291710] | uncertain significance | 3 | 193439054 | 193439054 | Human | | name |
| 15164888 | CV708739 | single nucleotide variant | NM_032279.4(ATP13A4):c.1921A>G (p.Thr641Ala) | ATP13A4-related disorder [RCV003936104]|not provided [RCV000970829] | benign | 3 | 193454207 | 193454207 | Human | | name , trait , alternate_id |
| 15163271 | CV733970 | single nucleotide variant | NM_032279.4(ATP13A4):c.2860T>C (p.Tyr954His) | ATP13A4-related disorder [RCV003932868]|not provided [RCV000903736]|not specified [RCV004028540] | likely benign|uncertain significance | 3 | 193414733 | 193414733 | Human | | name , trait , alternate_id |
| 15172888 | CV733971 | single nucleotide variant | NM_032279.4(ATP13A4):c.1745G>C (p.Cys582Ser) | not provided [RCV000905758] | likely benign | 3 | 193457395 | 193457395 | Human | | name |
| 40816150 | CV967229 | single nucleotide variant | NM_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp) | ATP13A4-related disorder [RCV003918810]|Central core myopathy [RCV001258275]|not provided [RCV004716715] | benign | 3 | 193454190 | 193454190 | Human | 1 | name , trait , alternate_id |
| 156384016 | CV2220264 | single nucleotide variant | NM_032279.4(ATP13A4):c.3485C>T (p.Pro1162Leu) | not specified [RCV004095692] | uncertain significance | 3 | 193402758 | 193402758 | Human | | name |
| 156079159 | CV2248542 | single nucleotide variant | NM_032279.4(ATP13A4):c.3089A>G (p.Asn1030Ser) | not specified [RCV004119667] | uncertain significance | 3 | 193412297 | 193412297 | Human | | name |
| 156356730 | CV2257510 | single nucleotide variant | NM_032279.4(ATP13A4):c.3524T>A (p.Met1175Lys) | not specified [RCV004125571] | uncertain significance | 3 | 193402719 | 193402719 | Human | | name |
| 156082776 | CV2333655 | single nucleotide variant | NM_032279.4(ATP13A4):c.3106T>C (p.Phe1036Leu) | not specified [RCV004192495] | uncertain significance | 3 | 193412280 | 193412280 | Human | | name |
| 155913425 | CV2341776 | single nucleotide variant | NM_032279.4(ATP13A4):c.3055A>G (p.Met1019Val) | not specified [RCV004184734] | uncertain significance | 3 | 193412331 | 193412331 | Human | | name |
| 156348265 | CV2375677 | single nucleotide variant | NM_032279.4(ATP13A4):c.3360T>G (p.Ile1120Met) | not specified [RCV004226151] | uncertain significance | 3 | 193407331 | 193407331 | Human | | name |
| 156038998 | CV2390271 | single nucleotide variant | NM_032279.4(ATP13A4):c.3376G>A (p.Glu1126Lys) | not specified [RCV004240641] | uncertain significance | 3 | 193407315 | 193407315 | Human | | name |
| 156260566 | CV2395559 | single nucleotide variant | NM_032279.4(ATP13A4):c.3367C>T (p.Leu1123Phe) | not specified [RCV004241412] | uncertain significance | 3 | 193407324 | 193407324 | Human | | name |
| 329390114 | CV2457566 | single nucleotide variant | NM_032279.4(ATP13A4):c.3244G>T (p.Val1082Leu) | not specified [RCV004269156] | uncertain significance | 3 | 193411035 | 193411035 | Human | | name |
| 405703884 | CV3301208 | single nucleotide variant | NM_032279.4(ATP13A4):c.3223G>C (p.Val1075Leu) | not specified [RCV004425806] | uncertain significance | 3 | 193411056 | 193411056 | Human | | name |
| 405703893 | CV3301209 | single nucleotide variant | NM_032279.4(ATP13A4):c.3289C>T (p.Arg1097Cys) | not specified [RCV004425807] | uncertain significance | 3 | 193410990 | 193410990 | Human | | name |
| 405703900 | CV3301210 | single nucleotide variant | NM_032279.4(ATP13A4):c.3290G>A (p.Arg1097His) | not specified [RCV004425808] | uncertain significance | 3 | 193410989 | 193410989 | Human | | name |
| 405703912 | CV3301211 | single nucleotide variant | NM_032279.4(ATP13A4):c.3326C>T (p.Ala1109Val) | not specified [RCV004425809] | likely benign | 3 | 193407365 | 193407365 | Human | | name |
| 405703920 | CV3301212 | single nucleotide variant | NM_032279.4(ATP13A4):c.3466A>G (p.Arg1156Gly) | not specified [RCV004425810] | uncertain significance | 3 | 193402777 | 193402777 | Human | | name |
| 407521133 | CV3486866 | single nucleotide variant | NM_032279.4(ATP13A4):c.3532T>C (p.Cys1178Arg) | not specified [RCV004677188] | uncertain significance | 3 | 193402711 | 193402711 | Human | | name |
| 407521165 | CV3486879 | single nucleotide variant | NM_032279.4(ATP13A4):c.3539G>A (p.Arg1180Lys) | not specified [RCV004677200] | uncertain significance | 3 | 193402704 | 193402704 | Human | | name |
| 407521259 | CV3486917 | single nucleotide variant | NM_032279.4(ATP13A4):c.3038G>A (p.Ser1013Asn) | not specified [RCV004677232] | uncertain significance | 3 | 193412348 | 193412348 | Human | | name |
| 597751346 | CV3619819 | single nucleotide variant | NM_032279.4(ATP13A4):c.2998T>A (p.Ser1000Thr) | not specified [RCV004866904] | uncertain significance | 3 | 193414595 | 193414595 | Human | | name |
| 597751377 | CV3619829 | single nucleotide variant | NM_032279.4(ATP13A4):c.3371T>C (p.Val1124Ala) | not specified [RCV004866911] | uncertain significance | 3 | 193407320 | 193407320 | Human | | name |
| 597751428 | CV3619840 | single nucleotide variant | NM_032279.4(ATP13A4):c.3351G>C (p.Leu1117Phe) | not specified [RCV004866922] | uncertain significance | 3 | 193407340 | 193407340 | Human | | name |
| 597751500 | CV3619860 | single nucleotide variant | NM_032279.4(ATP13A4):c.3314T>A (p.Val1105Asp) | not specified [RCV004866941] | uncertain significance | 3 | 193407377 | 193407377 | Human | | name |
| 598163473 | CV3913177 | single nucleotide variant | NM_032279.4(ATP13A4):c.3313G>A (p.Val1105Ile) | not specified [RCV005283128] | likely benign | 3 | 193407378 | 193407378 | Human | | name |
| 15189652 | CV733968 | single nucleotide variant | NM_032279.4(ATP13A4):c.3497C>T (p.Pro1166Leu) | ATP13A4-related disorder [RCV003923129]|not provided [RCV000909715] | benign|likely benign | 3 | 193402746 | 193402746 | Human | | name , trait , alternate_id |
| 15163265 | CV733969 | single nucleotide variant | NM_032279.4(ATP13A4):c.3121G>A (p.Val1041Ile) | ATP13A4-related disorder [RCV003950619]|not provided [RCV000903735]|not specified [RCV004028539] | likely benign | 3 | 193412265 | 193412265 | Human | | name , trait , alternate_id |