ClinVar Miner

List of variants reported as likely benign for autosomal recessive spastic paraplegia type 78 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 366
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro) rs549839037 0.00122
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309 0.00108
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_022089.4(ATP13A2):c.841-4A>G rs112549590 0.00090
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met) rs148201608 0.00070
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_022089.4(ATP13A2):c.2160G>T (p.Gly720=) rs61999317 0.00043
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr) rs143834546 0.00037
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506 0.00035
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194 0.00034
NM_022089.4(ATP13A2):c.3207G>A (p.Ala1069=) rs137877665 0.00031
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961 0.00030
NM_022089.4(ATP13A2):c.2610-9T>C rs376189607 0.00026
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg) rs113643181 0.00025
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) rs377253172 0.00024
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085 0.00024
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464 0.00023
NM_022089.4(ATP13A2):c.2043A>G (p.Thr681=) rs143828547 0.00021
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) rs61741838 0.00021
NM_022089.4(ATP13A2):c.2685G>A (p.Leu895=) rs138437271 0.00020
NM_022089.4(ATP13A2):c.1543-9C>T rs563459900 0.00018
NM_022089.4(ATP13A2):c.1353+8T>C rs369680614 0.00017
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=) rs777472886 0.00016
NM_022089.4(ATP13A2):c.3327G>A (p.Arg1109=) rs112261486 0.00015
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=) rs750600448 0.00014
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=) rs55943100 0.00013
NM_022089.4(ATP13A2):c.1196-14C>T rs200896109 0.00013
NM_022089.4(ATP13A2):c.1975C>T (p.Leu659=) rs755284799 0.00013
NM_022089.4(ATP13A2):c.3235+13G>A rs369278996 0.00013
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn) rs369863178 0.00012
NM_022089.4(ATP13A2):c.192C>T (p.Leu64=) rs576096315 0.00012
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=) rs752208167 0.00011
NM_022089.4(ATP13A2):c.252C>T (p.His84=) rs554944790 0.00011
NM_022089.4(ATP13A2):c.2655C>T (p.Ala885=) rs371975975 0.00011
NM_022089.4(ATP13A2):c.2709C>G (p.Val903=) rs145455452 0.00010
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_022089.4(ATP13A2):c.255C>T (p.Ala85=) rs369906056 0.00009
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) rs372995036 0.00009
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met) rs151117874 0.00009
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=) rs140631323 0.00009
NM_022089.4(ATP13A2):c.588C>T (p.Asp196=) rs147384248 0.00009
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) rs566918264 0.00008
NM_022089.4(ATP13A2):c.1629T>A (p.Pro543=) rs369352100 0.00008
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His) rs367745335 0.00007
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) rs756650754 0.00007
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His) rs544885605 0.00007
NM_022089.4(ATP13A2):c.528C>T (p.Ile176=) rs371992028 0.00007
NM_022089.4(ATP13A2):c.2252-8A>T rs759020707 0.00006
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=) rs886045580 0.00006
NM_022089.4(ATP13A2):c.2994C>T (p.Ser998=) rs369590596 0.00006
NM_022089.4(ATP13A2):c.699G>T (p.Val233=) rs374074690 0.00006
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_022089.4(ATP13A2):c.823C>T (p.Leu275=) rs767056514 0.00006
NM_022089.4(ATP13A2):c.106-4G>A rs372541124 0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_022089.4(ATP13A2):c.3084-16A>T rs56299881 0.00005
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) rs773914880 0.00005
NM_022089.4(ATP13A2):c.822G>A (p.Ser274=) rs138649639 0.00005
NM_022089.4(ATP13A2):c.1182G>T (p.Val394=) rs372159448 0.00004
NM_022089.4(ATP13A2):c.144C>T (p.Ile48=) rs375615601 0.00004
NM_022089.4(ATP13A2):c.153C>T (p.His51=) rs759666274 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2745C>T (p.Cys915=) rs372361807 0.00004
NM_022089.4(ATP13A2):c.2763-17C>T rs367638044 0.00004
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=) rs138212767 0.00004
NM_022089.4(ATP13A2):c.3205G>A (p.Ala1069Thr) rs774238872 0.00004
NM_022089.4(ATP13A2):c.3235+16C>T rs373315947 0.00004
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val) rs562519835 0.00004
NM_022089.4(ATP13A2):c.993C>T (p.Ala331=) rs568367953 0.00004
NM_022089.4(ATP13A2):c.1104A>G (p.Thr368=) rs762728165 0.00003
NM_022089.4(ATP13A2):c.1398C>T (p.Thr466=) rs768482207 0.00003
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln) rs541385523 0.00003
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=) rs148275181 0.00003
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=) rs368244226 0.00003
NM_022089.4(ATP13A2):c.2478C>T (p.Ser826=) rs147611385 0.00003
NM_022089.4(ATP13A2):c.2529+8C>T rs771708290 0.00003
NM_022089.4(ATP13A2):c.2796C>T (p.Ser932=) rs755542233 0.00003
NM_022089.4(ATP13A2):c.3360G>C (p.Leu1120=) rs1170773460 0.00003
NM_022089.4(ATP13A2):c.3384C>T (p.Phe1128=) rs373514205 0.00003
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=) rs781135190 0.00003
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=) rs371850140 0.00003
NM_022089.4(ATP13A2):c.558-20C>T rs749500132 0.00003
NM_022089.4(ATP13A2):c.1196-9C>T rs747077419 0.00002
NM_022089.4(ATP13A2):c.1307-14C>T rs370771306 0.00002
NM_022089.4(ATP13A2):c.1341C>T (p.Leu447=) rs1032082452 0.00002
NM_022089.4(ATP13A2):c.1704C>T (p.Pro568=) rs200868484 0.00002
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val) rs543531903 0.00002
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) rs766899425 0.00002
NM_022089.4(ATP13A2):c.244C>T (p.Leu82=) rs761558105 0.00002
NM_022089.4(ATP13A2):c.2634C>T (p.Asp878=) rs556418739 0.00002
NM_022089.4(ATP13A2):c.2723C>T (p.Ser908Leu) rs763069105 0.00002
NM_022089.4(ATP13A2):c.3405+10G>A rs375485447 0.00002
NM_022089.4(ATP13A2):c.585C>T (p.Asp195=) rs765706877 0.00002
NM_022089.4(ATP13A2):c.777C>T (p.Tyr259=) rs780133367 0.00002
NM_022089.4(ATP13A2):c.975G>A (p.Gly325=) rs915404570 0.00002
NM_022089.4(ATP13A2):c.111C>T (p.Leu37=) rs1331180219 0.00001
NM_022089.4(ATP13A2):c.1167G>A (p.Pro389=) rs776283025 0.00001
NM_022089.4(ATP13A2):c.1170C>T (p.His390=) rs201661480 0.00001
NM_022089.4(ATP13A2):c.1195+18G>C rs750278758 0.00001
NM_022089.4(ATP13A2):c.1233C>A (p.Ile411=) rs748487085 0.00001
NM_022089.4(ATP13A2):c.1234T>C (p.Leu412=) rs2077128030 0.00001
NM_022089.4(ATP13A2):c.1296C>T (p.Leu432=) rs1196631888 0.00001
NM_022089.4(ATP13A2):c.1307-13G>A rs754572673 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1377C>T (p.Ile459=) rs1570823082 0.00001
NM_022089.4(ATP13A2):c.1437G>A (p.Val479=) rs367695021 0.00001
NM_022089.4(ATP13A2):c.1543-15_1543-12del rs753702273 0.00001
NM_022089.4(ATP13A2):c.1563C>T (p.Asp521=) rs777948791 0.00001
NM_022089.4(ATP13A2):c.1663C>T (p.Leu555=) rs1208562568 0.00001
NM_022089.4(ATP13A2):c.1710C>T (p.Gly570=) rs1049938065 0.00001
NM_022089.4(ATP13A2):c.1755G>A (p.Leu585=) rs200184146 0.00001
NM_022089.4(ATP13A2):c.1845+15G>A rs750975658 0.00001
NM_022089.4(ATP13A2):c.1857G>A (p.Pro619=) rs1187762774 0.00001
NM_022089.4(ATP13A2):c.1869C>T (p.Ser623=) rs757800272 0.00001
NM_022089.4(ATP13A2):c.2013C>T (p.Thr671=) rs1176219513 0.00001
NM_022089.4(ATP13A2):c.2049T>C (p.Ala683=) rs769153783 0.00001
NM_022089.4(ATP13A2):c.2061C>T (p.Val687=) rs370622481 0.00001
NM_022089.4(ATP13A2):c.2083C>T (p.Leu695=) rs757300078 0.00001
NM_022089.4(ATP13A2):c.208C>T (p.Leu70=) rs757911860 0.00001
NM_022089.4(ATP13A2):c.2119C>T (p.Leu707=) rs762570626 0.00001
NM_022089.4(ATP13A2):c.2133T>C (p.Thr711=) rs751346349 0.00001
NM_022089.4(ATP13A2):c.2199G>A (p.Thr733=) rs1269645931 0.00001
NM_022089.4(ATP13A2):c.219G>A (p.Val73=) rs1469953920 0.00001
NM_022089.4(ATP13A2):c.2221A>C (p.Arg741=) rs754926284 0.00001
NM_022089.4(ATP13A2):c.2252-11A>G rs775547036 0.00001
NM_022089.4(ATP13A2):c.2340C>T (p.His780=) rs769392537 0.00001
NM_022089.4(ATP13A2):c.2397C>T (p.Ala799=) rs772920644 0.00001
NM_022089.4(ATP13A2):c.24C>T (p.Leu8=) rs1460426486 0.00001
NM_022089.4(ATP13A2):c.2609+10C>T rs759204814 0.00001
NM_022089.4(ATP13A2):c.2628C>T (p.Cys876=) rs561561604 0.00001
NM_022089.4(ATP13A2):c.264C>T (p.Leu88=) rs554781874 0.00001
NM_022089.4(ATP13A2):c.2673C>T (p.Val891=) rs764639673 0.00001
NM_022089.4(ATP13A2):c.2820C>T (p.Tyr940=) rs765560804 0.00001
NM_022089.4(ATP13A2):c.288+16A>T rs1385104135 0.00001
NM_022089.4(ATP13A2):c.2919A>G (p.Thr973=) rs149403933 0.00001
NM_022089.4(ATP13A2):c.2943G>A (p.Thr981=) rs746372968 0.00001
NM_022089.4(ATP13A2):c.3000C>T (p.Pro1000=) rs1260261642 0.00001
NM_022089.4(ATP13A2):c.3081A>G (p.Pro1027=) rs374690625 0.00001
NM_022089.4(ATP13A2):c.3174C>T (p.Tyr1058=) rs777045615 0.00001
NM_022089.4(ATP13A2):c.39C>T (p.Pro13=) rs752127537 0.00001
NM_022089.4(ATP13A2):c.423C>T (p.Ala141=) rs1258288001 0.00001
NM_022089.4(ATP13A2):c.429G>A (p.Lys143=) rs1391689725 0.00001
NM_022089.4(ATP13A2):c.435G>A (p.Thr145=) rs201154350 0.00001
NM_022089.4(ATP13A2):c.471C>T (p.Val157=) rs762608323 0.00001
NM_022089.4(ATP13A2):c.635+19C>T rs746266493 0.00001
NM_022089.4(ATP13A2):c.636-7C>T rs762753391 0.00001
NM_022089.4(ATP13A2):c.648C>T (p.Tyr216=) rs769405638 0.00001
NM_022089.4(ATP13A2):c.69A>G (p.Thr23=) rs1196381069 0.00001
NM_022089.4(ATP13A2):c.706-4C>A rs2077315863 0.00001
NM_022089.4(ATP13A2):c.723T>C (p.Tyr241=) rs1373279122 0.00001
NM_022089.4(ATP13A2):c.786C>T (p.Cys262=) rs1237741171 0.00001
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=) rs762440899 0.00001
NM_022089.4(ATP13A2):c.10+13T>C
NM_022089.4(ATP13A2):c.10+14C>T
NM_022089.4(ATP13A2):c.102C>T (p.Ser34=)
NM_022089.4(ATP13A2):c.1039+11A>G rs2100994243
NM_022089.4(ATP13A2):c.1039+15C>G
NM_022089.4(ATP13A2):c.1040-12G>A
NM_022089.4(ATP13A2):c.1040-13C>T
NM_022089.4(ATP13A2):c.1040-18C>T
NM_022089.4(ATP13A2):c.1041A>T (p.Gly347=)
NM_022089.4(ATP13A2):c.106-20C>T
NM_022089.4(ATP13A2):c.1095T>C (p.Cys365=) rs2100916560
NM_022089.4(ATP13A2):c.1110G>T (p.Arg370=)
NM_022089.4(ATP13A2):c.1125C>T (p.Phe375=)
NM_022089.4(ATP13A2):c.1137C>G (p.Leu379=) rs1026641789
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu) rs769588580
NM_022089.4(ATP13A2):c.1188C>T (p.Thr396=)
NM_022089.4(ATP13A2):c.1195+12G>C
NM_022089.4(ATP13A2):c.1195+19G>A
NM_022089.4(ATP13A2):c.1195+5G>A
NM_022089.4(ATP13A2):c.1195+7G>A rs1407939803
NM_022089.4(ATP13A2):c.1196-17C>T
NM_022089.4(ATP13A2):c.1215G>T (p.Gly405=) rs763507619
NM_022089.4(ATP13A2):c.1218C>T (p.Gly406=) rs796629683
NM_022089.4(ATP13A2):c.1281G>A (p.Lys427=)
NM_022089.4(ATP13A2):c.1307-11T>C
NM_022089.4(ATP13A2):c.1307-20G>T rs1161484444
NM_022089.4(ATP13A2):c.1314C>T (p.Leu438=) rs764435162
NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=) rs775625778
NM_022089.4(ATP13A2):c.1353+16G>C
NM_022089.4(ATP13A2):c.1353+17G>T
NM_022089.4(ATP13A2):c.1354-11C>T
NM_022089.4(ATP13A2):c.1354-12G>A
NM_022089.4(ATP13A2):c.1354-17A>C
NM_022089.4(ATP13A2):c.1380G>C (p.Arg460=)
NM_022089.4(ATP13A2):c.1443G>A (p.Thr481=)
NM_022089.4(ATP13A2):c.1491C>T (p.His497=)
NM_022089.4(ATP13A2):c.1518G>A (p.Lys506=)
NM_022089.4(ATP13A2):c.1542+11A>G rs1286184234
NM_022089.4(ATP13A2):c.1542+13G>A rs2100878532
NM_022089.4(ATP13A2):c.1543-11G>A
NM_022089.4(ATP13A2):c.1543-14C>T
NM_022089.4(ATP13A2):c.1543-18C>T
NM_022089.4(ATP13A2):c.1543-7C>T
NM_022089.4(ATP13A2):c.1609C>T (p.Leu537=)
NM_022089.4(ATP13A2):c.1662A>G (p.Ala554=)
NM_022089.4(ATP13A2):c.1662A>T (p.Ala554=) rs1269279941
NM_022089.4(ATP13A2):c.1665G>A (p.Leu555=) rs2100816612
NM_022089.4(ATP13A2):c.1701C>T (p.Thr567=)
NM_022089.4(ATP13A2):c.1749+12A>G
NM_022089.4(ATP13A2):c.1749+8G>T
NM_022089.4(ATP13A2):c.1750-11C>A
NM_022089.4(ATP13A2):c.1750-14T>C
NM_022089.4(ATP13A2):c.1750-20C>A
NM_022089.4(ATP13A2):c.1750-20C>G rs1305686148
NM_022089.4(ATP13A2):c.1845+14G>A
NM_022089.4(ATP13A2):c.1845+17C>T rs912845832
NM_022089.4(ATP13A2):c.1887C>T (p.Pro629=)
NM_022089.4(ATP13A2):c.1893T>G (p.Ser631=)
NM_022089.4(ATP13A2):c.1947C>T (p.Pro649=)
NM_022089.4(ATP13A2):c.1956C>T (p.Tyr652=)
NM_022089.4(ATP13A2):c.1971G>A (p.Pro657=)
NM_022089.4(ATP13A2):c.1989C>G (p.Leu663=)
NM_022089.4(ATP13A2):c.2005+10_2005+13dup
NM_022089.4(ATP13A2):c.2005+11A>G
NM_022089.4(ATP13A2):c.2005+13G>A
NM_022089.4(ATP13A2):c.2006-20C>T
NM_022089.4(ATP13A2):c.2006-7dup
NM_022089.4(ATP13A2):c.2006-9C>A
NM_022089.4(ATP13A2):c.2019C>T (p.Phe673=)
NM_022089.4(ATP13A2):c.2082A>G (p.Pro694=) rs1303061130
NM_022089.4(ATP13A2):c.2094G>A (p.Val698=)
NM_022089.4(ATP13A2):c.2126+11C>A
NM_022089.4(ATP13A2):c.2126+13C>T
NM_022089.4(ATP13A2):c.2126+20C>T rs2100772296
NM_022089.4(ATP13A2):c.2127-13G>A
NM_022089.4(ATP13A2):c.2136G>A (p.Val712=) rs1232417254
NM_022089.4(ATP13A2):c.2190G>A (p.Pro730=)
NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=)
NM_022089.4(ATP13A2):c.2235C>T (p.Arg745=)
NM_022089.4(ATP13A2):c.2238C>T (p.Ala746=)
NM_022089.4(ATP13A2):c.2251+19G>A
NM_022089.4(ATP13A2):c.2252-12C>T
NM_022089.4(ATP13A2):c.2252-18T>C rs2076885723
NM_022089.4(ATP13A2):c.2262G>A (p.Leu754=)
NM_022089.4(ATP13A2):c.2310G>A (p.Gln770=)
NM_022089.4(ATP13A2):c.2325C>T (p.Ile775=)
NM_022089.4(ATP13A2):c.2379G>A (p.Pro793=)
NM_022089.4(ATP13A2):c.2400G>C (p.Val800=)
NM_022089.4(ATP13A2):c.2412+12C>G
NM_022089.4(ATP13A2):c.2454C>T (p.Pro818=) rs2100725900
NM_022089.4(ATP13A2):c.2481G>T (p.Gly827=) rs761620417
NM_022089.4(ATP13A2):c.24C>A (p.Leu8=) rs1460426486
NM_022089.4(ATP13A2):c.2529+10C>T
NM_022089.4(ATP13A2):c.2529+11C>T
NM_022089.4(ATP13A2):c.2529+7C>T rs2100723755
NM_022089.4(ATP13A2):c.2530-14C>A rs759142662
NM_022089.4(ATP13A2):c.2538C>G (p.Val846=) rs1365858933
NM_022089.4(ATP13A2):c.2556C>T (p.Ala852=) rs55889979
NM_022089.4(ATP13A2):c.2580A>G (p.Thr860=) rs1295653375
NM_022089.4(ATP13A2):c.2609+19G>T
NM_022089.4(ATP13A2):c.2610-8C>T
NM_022089.4(ATP13A2):c.2652G>A (p.Gly884=)
NM_022089.4(ATP13A2):c.2664G>T (p.Ala888=)
NM_022089.4(ATP13A2):c.2682G>A (p.Ser894=) rs767921922
NM_022089.4(ATP13A2):c.270C>T (p.Ile90=) rs1348572920
NM_022089.4(ATP13A2):c.2742G>A (p.Glu914=) rs146234171
NM_022089.4(ATP13A2):c.2762+18C>T
NM_022089.4(ATP13A2):c.2762+19G>C rs779656439
NM_022089.4(ATP13A2):c.2762+9G>A rs1570769698
NM_022089.4(ATP13A2):c.2763-8C>A
NM_022089.4(ATP13A2):c.2799C>T (p.Val933=)
NM_022089.4(ATP13A2):c.2829C>G (p.Thr943=)
NM_022089.4(ATP13A2):c.2841C>T (p.Ser947=)
NM_022089.4(ATP13A2):c.2860-7G>A rs2076770965
NM_022089.4(ATP13A2):c.2862C>A (p.Ile954=)
NM_022089.4(ATP13A2):c.2871C>T (p.Asn957=)
NM_022089.4(ATP13A2):c.288+12G>T rs749064381
NM_022089.4(ATP13A2):c.288+17G>T
NM_022089.4(ATP13A2):c.289-12T>C
NM_022089.4(ATP13A2):c.289-13C>T
NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)
NM_022089.4(ATP13A2):c.2958C>G (p.Val986=)
NM_022089.4(ATP13A2):c.2967G>A (p.Arg989=)
NM_022089.4(ATP13A2):c.2976A>C (p.Pro992=)
NM_022089.4(ATP13A2):c.2979G>A (p.Pro993=)
NM_022089.4(ATP13A2):c.2991C>T (p.Leu997=)
NM_022089.4(ATP13A2):c.3013C>T (p.Leu1005=)
NM_022089.4(ATP13A2):c.3039C>T (p.Thr1013=)
NM_022089.4(ATP13A2):c.3042C>T (p.Gly1014=) rs1415173041
NM_022089.4(ATP13A2):c.3083+18dup
NM_022089.4(ATP13A2):c.3084-10G>A rs368908107
NM_022089.4(ATP13A2):c.3084-20C>T rs773787370
NM_022089.4(ATP13A2):c.3084-7C>T
NM_022089.4(ATP13A2):c.3126G>C (p.Leu1042=)
NM_022089.4(ATP13A2):c.3135C>T (p.Tyr1045=)
NM_022089.4(ATP13A2):c.3144C>T (p.Thr1048=) rs56126202
NM_022089.4(ATP13A2):c.3183G>A (p.Leu1061=)
NM_022089.4(ATP13A2):c.3207G>T (p.Ala1069=)
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=) rs372993383
NM_022089.4(ATP13A2):c.3235+11G>C
NM_022089.4(ATP13A2):c.3235+19G>A
NM_022089.4(ATP13A2):c.3236-13C>G rs2076736733
NM_022089.4(ATP13A2):c.3236-19_3236-16del
NM_022089.4(ATP13A2):c.3270C>T (p.Ser1090=)
NM_022089.4(ATP13A2):c.3273C>G (p.Val1091=)
NM_022089.4(ATP13A2):c.327T>C (p.Thr109=)
NM_022089.4(ATP13A2):c.3321G>A (p.Ala1107=) rs751916254
NM_022089.4(ATP13A2):c.3400C>T (p.Leu1134=)
NM_022089.4(ATP13A2):c.3405+19C>T
NM_022089.4(ATP13A2):c.3405+7C>T rs758763354
NM_022089.4(ATP13A2):c.3406-13del
NM_022089.4(ATP13A2):c.3406-8del
NM_022089.4(ATP13A2):c.3408C>T (p.Ser1136=)
NM_022089.4(ATP13A2):c.3411G>C (p.Val1137=) rs2100629081
NM_022089.4(ATP13A2):c.3414A>G (p.Leu1138=)
NM_022089.4(ATP13A2):c.3423C>T (p.Cys1141=)
NM_022089.4(ATP13A2):c.3426C>A (p.Leu1142=)
NM_022089.4(ATP13A2):c.3426C>G (p.Leu1142=)
NM_022089.4(ATP13A2):c.3435C>T (p.Cys1145=)
NM_022089.4(ATP13A2):c.3457C>A (p.Arg1153=)
NM_022089.4(ATP13A2):c.3462C>T (p.Ala1154=) rs761171771
NM_022089.4(ATP13A2):c.347+12_347+13del
NM_022089.4(ATP13A2):c.348-16T>C rs2077491501
NM_022089.4(ATP13A2):c.348-17C>T
NM_022089.4(ATP13A2):c.3490C>A (p.Arg1164=) rs373003359
NM_022089.4(ATP13A2):c.349C>T (p.Leu117=)
NM_022089.4(ATP13A2):c.3501C>G (p.Ala1167=)
NM_022089.4(ATP13A2):c.3525C>T (p.Pro1175=)
NM_022089.4(ATP13A2):c.408G>A (p.Ala136=)
NM_022089.4(ATP13A2):c.477+12A>G
NM_022089.4(ATP13A2):c.477+18C>A
NM_022089.4(ATP13A2):c.478-7C>T
NM_022089.4(ATP13A2):c.483G>A (p.Arg161=)
NM_022089.4(ATP13A2):c.557+7G>A
NM_022089.4(ATP13A2):c.558-11C>T rs912183101
NM_022089.4(ATP13A2):c.558-15C>T
NM_022089.4(ATP13A2):c.558-6C>T
NM_022089.4(ATP13A2):c.570T>C (p.His190=)
NM_022089.4(ATP13A2):c.635+10G>C
NM_022089.4(ATP13A2):c.635+20G>A
NM_022089.4(ATP13A2):c.635+8C>T
NM_022089.4(ATP13A2):c.636-12C>A
NM_022089.4(ATP13A2):c.636-19G>A rs1001030076
NM_022089.4(ATP13A2):c.642C>T (p.Ala214=) rs2101043010
NM_022089.4(ATP13A2):c.657C>T (p.Asn219=)
NM_022089.4(ATP13A2):c.66G>A (p.Gly22=)
NM_022089.4(ATP13A2):c.702C>T (p.Asp234=)
NM_022089.4(ATP13A2):c.705+11C>T
NM_022089.4(ATP13A2):c.706-13G>A rs374468183
NM_022089.4(ATP13A2):c.706-13G>T rs374468183
NM_022089.4(ATP13A2):c.706-16C>T rs2101010699
NM_022089.4(ATP13A2):c.706-17T>C
NM_022089.4(ATP13A2):c.747G>A (p.Ala249=)
NM_022089.4(ATP13A2):c.841-15G>T
NM_022089.4(ATP13A2):c.841-18C>T
NM_022089.4(ATP13A2):c.841-20C>T
NM_022089.4(ATP13A2):c.853C>T (p.Leu285=)
NM_022089.4(ATP13A2):c.888C>T (p.Cys296=)
NM_022089.4(ATP13A2):c.894C>T (p.Cys298=)
NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)
NM_022089.4(ATP13A2):c.908-13T>G
NM_022089.4(ATP13A2):c.908-14C>T rs536927284
NM_022089.4(ATP13A2):c.908-18T>A
NM_022089.4(ATP13A2):c.908-19C>T
NM_022089.4(ATP13A2):c.908-20C>T rs2100997892
NM_022089.4(ATP13A2):c.908-8G>A
NM_022089.4(ATP13A2):c.934C>T (p.Leu312=)
NM_022089.4(ATP13A2):c.942C>G (p.Pro314=)
NM_022089.4(ATP13A2):c.942C>T (p.Pro314=) rs551559306

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.