ClinVar Miner

List of variants reported as uncertain significance for Huntington disease-like syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 509
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 0.00190
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=) rs141835897 0.00171
NM_033305.3(VPS13A):c.-148C>T rs555695029 0.00150
NM_001386393.1(PANK2):c.*382C>T rs71647861 0.00144
NM_020655.4(JPH3):c.626G>C (p.Ser209Thr) rs144296512 0.00143
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_001372574.1(ATXN2):c.-266C>T rs536609944 0.00138
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_033305.3(VPS13A):c.101-14T>G rs202024224 0.00098
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00096
NM_033305.3(VPS13A):c.*279A>T rs191865643 0.00095
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) rs145346590 0.00093
NM_033305.3(VPS13A):c.*933A>G rs561135773 0.00085
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs) rs1290125655 0.00082
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_001386393.1(PANK2):c.298+15G>C rs566953264 0.00057
NM_001386393.1(PANK2):c.*541C>T rs886056655 0.00055
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_033305.3(VPS13A):c.*185A>G rs773434698 0.00043
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) rs144290291 0.00035
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln) rs371369186 0.00032
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) rs148891181 0.00026
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg) rs145686832 0.00026
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) rs146158125 0.00017
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412 0.00016
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) rs141321409 0.00014
NM_033305.3(VPS13A):c.971A>G (p.His324Arg) rs138568018 0.00014
NM_033305.3(VPS13A):c.*1194A>C rs556413345 0.00013
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val) rs145398548 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) rs372957084 0.00013
NM_000146.4(FTL):c.-177C>T rs988614907 0.00012
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln) rs546381069 0.00011
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr) rs774676518 0.00011
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe) rs147115148 0.00011
NM_033305.3(VPS13A):c.1785+7A>G rs367906505 0.00011
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser) rs139073067 0.00011
NM_033305.3(VPS13A):c.699C>T (p.Asp233=) rs138009035 0.00011
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00010
NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg) rs763608502 0.00010
NM_033305.3(VPS13A):c.*474G>A rs531360785 0.00010
NM_033305.3(VPS13A):c.-158G>C rs1057515644 0.00010
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) rs372019796 0.00010
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met) rs151129933 0.00010
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu) rs146902739 0.00009
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys) rs146265794 0.00009
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00009
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu) rs200253730 0.00009
NM_021083.4(XK):c.554T>C (p.Leu185Ser) rs782066998 0.00008
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val) rs143067406 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser) rs200755494 0.00008
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro) rs148227344 0.00007
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) rs189138644 0.00007
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser) rs371055567 0.00007
NM_000146.4(FTL):c.155T>G (p.Phe52Cys) rs543242420 0.00006
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu) rs368002284 0.00006
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val) rs750174637 0.00006
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu) rs755454094 0.00006
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val) rs758912053 0.00006
NM_033305.3(VPS13A):c.8212-15G>A rs771085531 0.00006
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=) rs201517936 0.00006
NM_000146.4(FTL):c.*8C>T rs373178636 0.00005
NM_001386393.1(PANK2):c.*376A>G rs746515620 0.00005
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser) rs143474105 0.00005
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr) rs370950513 0.00005
NM_033305.3(VPS13A):c.5753A>G (p.Asp1918Gly) rs377418680 0.00005
NM_033305.3(VPS13A):c.755-7T>C rs377234046 0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_001386393.1(PANK2):c.*534A>G rs780398812 0.00004
NM_001386393.1(PANK2):c.-21G>A rs780551883 0.00004
NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu) rs1375502090 0.00004
NM_001386393.1(PANK2):c.18G>A (p.Gly6=) rs750766653 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_033305.3(VPS13A):c.*665C>G rs41289985 0.00004
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser) rs189129300 0.00004
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val) rs369818421 0.00004
NM_033305.3(VPS13A):c.5898A>G (p.Val1966=) rs1042736663 0.00004
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys) rs141164942 0.00004
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr) rs200616248 0.00004
NM_033305.3(VPS13A):c.6840T>C (p.His2280=) rs750072063 0.00004
NM_033305.3(VPS13A):c.7179G>A (p.Val2393=) rs779653365 0.00004
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu) rs200293888 0.00004
NM_033305.3(VPS13A):c.981C>T (p.Ala327=) rs368425803 0.00004
NC_000019.10:g.48965277C>T rs960442161 0.00003
NM_000146.4(FTL):c.375+4C>T rs369864128 0.00003
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys) rs528889529 0.00003
NM_033305.3(VPS13A):c.*182G>A rs983693743 0.00003
NM_033305.3(VPS13A):c.-150C>T rs560445300 0.00003
NM_033305.3(VPS13A):c.1197T>C (p.Thr399=) rs760025315 0.00003
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala) rs564878665 0.00003
NM_033305.3(VPS13A):c.2667+4G>A rs748465954 0.00003
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) rs1437731472 0.00003
NM_033305.3(VPS13A):c.4539T>C (p.Phe1513=) rs143022525 0.00003
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro) rs757415947 0.00003
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu) rs772689261 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln) rs201208791 0.00003
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys) rs772152953 0.00003
NM_033305.3(VPS13A):c.7278A>G (p.Gln2426=) rs554457655 0.00003
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys) rs574650880 0.00003
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg) rs202148808 0.00003
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) rs368161466 0.00003
NM_033305.3(VPS13A):c.9077+8C>G rs1325690140 0.00003
NM_153638.4(PANK2):c.37T>C (p.Trp13Arg) rs971003044 0.00003
NM_153638.4(PANK2):c.95C>T (p.Thr32Ile) rs530609127 0.00003
NM_000146.4(FTL):c.-46C>A rs768457741 0.00002
NM_000146.4(FTL):c.466G>A (p.Gly156Ser) rs151265703 0.00002
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu) rs137852969 0.00002
NM_001386393.1(PANK2):c.466G>A (p.Val156Met) rs753145257 0.00002
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_033305.3(VPS13A):c.*1095A>G rs956751748 0.00002
NM_033305.3(VPS13A):c.*481G>A rs1057515664 0.00002
NM_033305.3(VPS13A):c.*503C>A rs1057515665 0.00002
NM_033305.3(VPS13A):c.116A>G (p.Lys39Arg) rs960135788 0.00002
NM_033305.3(VPS13A):c.1824A>G (p.Pro608=) rs750307161 0.00002
NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser) rs764645153 0.00002
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=) rs777234852 0.00002
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) rs916979346 0.00002
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val) rs770035274 0.00002
NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=) rs369976472 0.00002
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu) rs781398633 0.00002
NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn) rs769409983 0.00002
NM_033305.3(VPS13A):c.588T>C (p.His196=) rs192380515 0.00002
NM_033305.3(VPS13A):c.6379-12T>G rs865850464 0.00002
NM_033305.3(VPS13A):c.6489C>T (p.His2163=) rs773384343 0.00002
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn) rs780035378 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser) rs750460516 0.00002
NM_033305.3(VPS13A):c.7188C>T (p.Ala2396=) rs747802503 0.00002
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val) rs892450419 0.00002
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro) rs758989403 0.00002
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=) rs755095881 0.00002
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser) rs1452787032 0.00002
NM_000146.4(FTL):c.*131A>T rs374919004 0.00001
NM_000146.4(FTL):c.-134A>T rs1463766648 0.00001
NM_000146.4(FTL):c.-190C>T rs1379884083 0.00001
NM_000146.4(FTL):c.-86C>T rs1319264120 0.00001
NM_000146.4(FTL):c.-92T>C rs886054563 0.00001
NM_000146.4(FTL):c.17G>A (p.Arg6His) rs1012743580 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000146.4(FTL):c.207G>A (p.Met69Ile) rs1131691701 0.00001
NM_000146.4(FTL):c.302T>C (p.Met101Thr) rs750964137 0.00001
NM_000146.4(FTL):c.362G>A (p.Arg121His) rs769449169 0.00001
NM_000146.4(FTL):c.375+5G>A rs768867643 0.00001
NM_000146.4(FTL):c.473C>T (p.Pro158Leu) rs374486686 0.00001
NM_000146.4(FTL):c.492G>T (p.Glu164Asp) rs770946603 0.00001
NM_001386393.1(PANK2):c.*391C>G rs1273989006 0.00001
NM_001386393.1(PANK2):c.*407A>G rs886056654 0.00001
NM_001386393.1(PANK2):c.-10G>A rs771710781 0.00001
NM_001386393.1(PANK2):c.-20A>C rs748780222 0.00001
NM_001386393.1(PANK2):c.-32C>T rs1441505244 0.00001
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys) rs767222898 0.00001
NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys) rs1421161193 0.00001
NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile) rs1600571977 0.00001
NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu) rs967346135 0.00001
NM_001386393.1(PANK2):c.133C>T (p.Pro45Ser) rs745590703 0.00001
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln) rs911560228 0.00001
NM_001386393.1(PANK2):c.258C>G (p.Val86=) rs746054643 0.00001
NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter) rs944348405 0.00001
NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly) rs775816922 0.00001
NM_001386393.1(PANK2):c.298+10C>T rs755815669 0.00001
NM_001386393.1(PANK2):c.298+2dup rs1309365137 0.00001
NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp) rs752138761 0.00001
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser) rs1214737069 0.00001
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg) rs975735144 0.00001
NM_001386393.1(PANK2):c.54G>C (p.Arg18=) rs930563925 0.00001
NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu) rs774558831 0.00001
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg) rs1159023197 0.00001
NM_001386393.1(PANK2):c.66C>T (p.Pro22=) rs754198411 0.00001
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys) rs1427550015 0.00001
NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser) rs1432572102 0.00001
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr) rs1012947103 0.00001
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala) rs748901841 0.00001
NM_003194.5(TBP):c.410C>T (p.Pro137Leu) rs142540266 0.00001
NM_033305.3(VPS13A):c.*1078T>G rs951051787 0.00001
NM_033305.3(VPS13A):c.*1140A>T rs1360751714 0.00001
NM_033305.3(VPS13A):c.*663T>C rs1172989781 0.00001
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg) rs202123189 0.00001
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe) rs1042881230 0.00001
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu) rs1238647708 0.00001
NM_033305.3(VPS13A):c.1783G>T (p.Ala595Ser) rs757058290 0.00001
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=) rs749655544 0.00001
NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp) rs549929120 0.00001
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp) rs769146492 0.00001
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val) rs368157358 0.00001
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=) rs1274810899 0.00001
NM_033305.3(VPS13A):c.3556A>G (p.Thr1186Ala) rs542933158 0.00001
NM_033305.3(VPS13A):c.3813-6T>C rs1057515654 0.00001
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu) rs781501141 0.00001
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys) rs1380006812 0.00001
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser) rs72744294 0.00001
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753 0.00001
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala) rs377532527 0.00001
NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=) rs767739134 0.00001
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val) rs1016550070 0.00001
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn) rs1034458059 0.00001
NM_033305.3(VPS13A):c.587A>G (p.His196Arg) rs750690177 0.00001
NM_033305.3(VPS13A):c.6096-3C>A rs753054165 0.00001
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys) rs752509925 0.00001
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys) rs754391863 0.00001
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe) rs1830592063 0.00001
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys) rs1168343737 0.00001
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr) rs763311249 0.00001
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg) rs771133301 0.00001
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=) rs192942248 0.00001
NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg) rs1438436648 0.00001
NM_033305.3(VPS13A):c.7290-10A>G rs777376932 0.00001
NM_033305.3(VPS13A):c.7489C>T (p.Arg2497Cys) rs762732340 0.00001
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) rs766585218 0.00001
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His) rs762985818 0.00001
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg) rs558287069 0.00001
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val) rs780530847 0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) rs752608628 0.00001
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu) rs757219762 0.00001
NM_033305.3(VPS13A):c.8668-3T>C rs774310931 0.00001
NM_033305.3(VPS13A):c.9234T>C (p.His3078=) rs766370355 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu) rs769505139 0.00001
NM_153638.4(PANK2):c.239C>T (p.Pro80Leu) rs752820848 0.00001
NM_153638.4(PANK2):c.245G>A (p.Arg82His) rs995058151 0.00001
NM_153638.4(PANK2):c.272C>G (p.Pro91Arg) rs757651957 0.00001
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile) rs1427393180 0.00001
NC_000019.10:g.(?_48966261)_(48966755_?)del
NC_000019.10:g.48965263G>A rs1034875270
NC_000019.10:g.48965263G>C
NC_000019.10:g.48965270G>C
NC_000019.10:g.48965301dup
NC_000019.10:g.48965303C>T
NC_000019.10:g.48965305C>T
NC_000019.9:g.(?_49468350)_(49481434_?)del
NC_000020.10:g.(?_1959939)_(6760201_?)dup
NC_000020.10:g.(?_3869748)_(3893301_?)dup
NM_000146.4(FTL):c.*76G>A rs2038463168
NM_000146.4(FTL):c.-10C>T
NM_000146.4(FTL):c.-111C>T
NM_000146.4(FTL):c.-126C>A
NM_000146.4(FTL):c.-139C>T rs2122429898
NM_000146.4(FTL):c.-143G>A
NM_000146.4(FTL):c.-144A>T
NM_000146.4(FTL):c.-148G>C rs2038438657
NM_000146.4(FTL):c.-153G>A
NM_000146.4(FTL):c.-153G>T rs2122429855
NM_000146.4(FTL):c.-170T>C rs2122429714
NM_000146.4(FTL):c.-173C>G rs1053572388
NM_000146.4(FTL):c.-179G>A
NM_000146.4(FTL):c.-181G>A
NM_000146.4(FTL):c.-184C>G rs955876864
NM_000146.4(FTL):c.-186C>A rs981348025
NM_000146.4(FTL):c.-186C>T
NM_000146.4(FTL):c.-189G>T rs970038885
NM_000146.4(FTL):c.-193C>G rs2038437773
NM_000146.4(FTL):c.-196G>C rs2038437702
NM_000146.4(FTL):c.-24T>C
NM_000146.4(FTL):c.-51dup rs2122430255
NM_000146.4(FTL):c.-56G>T
NM_000146.4(FTL):c.-95C>A
NM_000146.4(FTL):c.102G>A (p.Leu34=)
NM_000146.4(FTL):c.113T>C (p.Phe38Ser) rs2038445005
NM_000146.4(FTL):c.124G>A (p.Asp42Asn) rs11553257
NM_000146.4(FTL):c.12G>C (p.Gln4His) rs753168179
NM_000146.4(FTL):c.139G>C (p.Gly47Arg) rs930186818
NM_000146.4(FTL):c.139G>T (p.Gly47Cys) rs930186818
NM_000146.4(FTL):c.178C>T (p.Arg60Cys) rs2038446533
NM_000146.4(FTL):c.181G>A (p.Glu61Lys) rs2038446561
NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)
NM_000146.4(FTL):c.190G>A (p.Glu64Lys) rs11553225
NM_000146.4(FTL):c.194G>A (p.Arg65His) rs1555797038
NM_000146.4(FTL):c.218G>T (p.Arg73Leu) rs2122432219
NM_000146.4(FTL):c.229G>A (p.Ala77Thr)
NM_000146.4(FTL):c.232C>T (p.Leu78Phe) rs751857518
NM_000146.4(FTL):c.247A>G (p.Lys83Glu) rs770196454
NM_000146.4(FTL):c.249+3A>G rs2038447850
NM_000146.4(FTL):c.249+6T>C
NM_000146.4(FTL):c.253C>T (p.Pro85Ser)
NM_000146.4(FTL):c.256G>C (p.Ala86Pro) rs773293832
NM_000146.4(FTL):c.261A>C (p.Glu87Asp) rs762786833
NM_000146.4(FTL):c.263A>G (p.Asp88Gly) rs2122433970
NM_000146.4(FTL):c.271G>T (p.Gly91Cys)
NM_000146.4(FTL):c.311A>G (p.Glu104Gly) rs2038454487
NM_000146.4(FTL):c.324C>T (p.Asn108=) rs754652110
NM_000146.4(FTL):c.375T>C (p.His125=)
NM_000146.4(FTL):c.376C>G (p.Leu126Val) rs775308103
NM_000146.4(FTL):c.379T>C (p.Cys127Arg) rs2122435637
NM_000146.4(FTL):c.391G>A (p.Glu131Lys)
NM_000146.4(FTL):c.488G>A (p.Gly163Asp)
NM_000146.4(FTL):c.502G>T (p.Glu168Ter) rs768204975
NM_000146.4(FTL):c.515_516del (p.Leu172fs)
NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) rs1422409524
NM_000146.4(FTL):c.71A>T (p.Tyr24Phe)
NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser) rs1760808820
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln) rs867381855
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr) rs762930876
NM_001386393.1(PANK2):c.*468T>C rs541731517
NM_001386393.1(PANK2):c.-11G>A
NM_001386393.1(PANK2):c.-22G>C
NM_001386393.1(PANK2):c.-28C>T rs544239478
NM_001386393.1(PANK2):c.-29C>G
NM_001386393.1(PANK2):c.-29C>T rs573948434
NM_001386393.1(PANK2):c.-3A>C
NM_001386393.1(PANK2):c.-5C>T rs746763863
NM_001386393.1(PANK2):c.100G>T (p.Val34Phe) rs547164263
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly) rs1568575238
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln) rs1241995212
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr) rs2090571848
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser)
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)
NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg)
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser) rs2090073827
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)
NM_001386393.1(PANK2):c.1207-11G>A
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu) rs1183095944
NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del)
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu) rs2146893030
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu) rs138402319
NM_001386393.1(PANK2):c.1333-29_1333-8del
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr) rs886056652
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)
NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp)
NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro)
NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly) rs1416234460
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr) rs1568550594
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala) rs767712182
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys) rs755932521
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter) rs2146804492
NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala) rs1380924374
NM_001386393.1(PANK2):c.233G>T (p.Gly78Val) rs1380924374
NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe)
NM_001386393.1(PANK2):c.255G>A (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.255G>T (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.25C>G (p.Arg9Gly) rs944348405
NM_001386393.1(PANK2):c.298+3_298+6del
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu) rs762879569
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu) rs188211202
NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser) rs2146859332
NM_001386393.1(PANK2):c.367A>G (p.Ile123Val) rs2146859343
NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly) rs2090413830
NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)
NM_001386393.1(PANK2):c.40A>G (p.Met14Val) rs1368727421
NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup) rs1568569482
NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys)
NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln)
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg) rs2146859529
NM_001386393.1(PANK2):c.431C>T (p.Ser144Phe)
NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala)
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys) rs778263915
NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr)
NM_001386393.1(PANK2):c.503G>A (p.Arg168His)
NM_001386393.1(PANK2):c.519C>A (p.His173Gln) rs2090416889
NM_001386393.1(PANK2):c.526C>G (p.Arg176Gly)
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val) rs772205776
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp) rs975841680
NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys)
NM_001386393.1(PANK2):c.651+3A>C rs1131691472
NM_001386393.1(PANK2):c.651+3A>G rs1131691472
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys) rs2146866714
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu) rs2146804825
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val) rs2090454168
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu) rs2146866985
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys) rs1568572918
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala) rs777624606
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser) rs1568572979
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) rs149907912
NM_001386393.1(PANK2):c.78C>A (p.His26Gln) rs2090076533
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)
NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu) rs2090457090
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn) rs2146867465
NM_001386393.1(PANK2):c.865G>C (p.Val289Leu) rs1011938873
NM_001386393.1(PANK2):c.868T>C (p.Tyr290His) rs1183615976
NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys) rs758080048
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) rs1288629241
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val) rs1268207892
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys) rs2146872412
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg) rs2146872437
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp) rs1031848408
NM_001386393.1(PANK2):c.989G>A (p.Arg330His)
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
NM_020655.4(JPH3):c.955C>T (p.Arg319Trp) rs148131421
NM_021083.4(XK):c.100C>G (p.Arg34Gly)
NM_021083.4(XK):c.1220C>T (p.Pro407Leu)
NM_021083.4(XK):c.200C>T (p.Pro67Leu)
NM_021083.4(XK):c.335A>G (p.Asn112Ser)
NM_021083.4(XK):c.404C>T (p.Ala135Val)
NM_021083.4(XK):c.794A>G (p.Glu265Gly)
NM_021083.4(XK):c.85C>G (p.Arg29Gly)
NM_033305.2(VPS13A):c.-183G>A rs12349389
NM_033305.2(VPS13A):c.-232G>C rs545092496
NM_033305.2(VPS13A):c.-264G>C rs542679691
NM_033305.3(VPS13A):c.*106T>G rs1835160786
NM_033305.3(VPS13A):c.*1133A>C rs182044001
NM_033305.3(VPS13A):c.*1248_*1251dup rs1057515668
NM_033305.3(VPS13A):c.*133CAAA[1] rs914078686
NM_033305.3(VPS13A):c.*274AGA[1] rs147672353
NM_033305.3(VPS13A):c.*409A>G rs975807327
NM_033305.3(VPS13A):c.*774_*776del rs549219168
NM_033305.3(VPS13A):c.*81A>G rs1057515661
NM_033305.3(VPS13A):c.*990T>A rs1203318328
NM_033305.3(VPS13A):c.-16A>T rs372360076
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=) rs774931205
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg) rs550188251
NM_033305.3(VPS13A):c.1596-10_1596-8del rs748907586
NM_033305.3(VPS13A):c.159A>G (p.Val53=) rs1057515645
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg) rs1057515651
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu) rs759600403
NM_033305.3(VPS13A):c.1900+9C>T rs773690202
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His) rs1389344705
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu) rs1057515652
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met) rs1826457641
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn) rs1826653395
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp) rs757651034
NM_033305.3(VPS13A):c.2783C>T (p.Ala928Val) rs757651034
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=) rs1826936558
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala) rs1248091059
NM_033305.3(VPS13A):c.295_297del (p.Asp99del) rs759258746
NM_033305.3(VPS13A):c.2982G>C (p.Leu994Phe) rs1169530629
NM_033305.3(VPS13A):c.3340-5_3340-3del rs746510956
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val) rs1172751806
NM_033305.3(VPS13A):c.3658A>C (p.Ile1220Leu) rs1232607771
NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=) rs773982653
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn) rs1392223813
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys) rs1829245513
NM_033305.3(VPS13A):c.4765G>A (p.Gly1589Ser) rs1829384544
NM_033305.3(VPS13A):c.496-9C>T rs370541609
NM_033305.3(VPS13A):c.5003T>G (p.Leu1668Arg) rs372255312
NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala) rs1181531896
NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp) rs139380985
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del) rs753852395
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val) rs1829532129
NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=) rs1829532281
NM_033305.3(VPS13A):c.5248C>T (p.Arg1750Cys) rs149067717
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=) rs1829726014
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.5599T>A (p.Ser1867Thr) rs2131449438
NM_033305.3(VPS13A):c.5687T>C (p.Phe1896Ser) rs1339880855
NM_033305.3(VPS13A):c.5855A>G (p.Asp1952Gly) rs1336467149
NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=) rs201300715
NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr) rs770789453
NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)
NM_033305.3(VPS13A):c.6485A>T (p.Asn2162Ile) rs769503145
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp) rs1826073644
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=) rs1057515657
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val) rs1287394997
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser) rs760875004
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala) rs1057515659
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His) rs774310423
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
NM_033305.3(VPS13A):c.8472-11G>T rs1281741862
NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=) rs998711723
NM_033305.3(VPS13A):c.904C>T (p.Leu302Phe) rs541051874
NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp)
NM_033305.3(VPS13A):c.9189+2495C>T
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val) rs1057515660
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter) rs773932109
NM_033305.3(VPS13A):c.989+28del rs751974264
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn) rs1426406978
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)
NM_153638.4(PANK2):c.126del (p.Arg44fs) rs1600474748
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala) rs2146803538
NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)
NM_153638.4(PANK2):c.200A>C (p.Glu67Ala) rs2146803693
NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu) rs757651957
NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile) rs558404718
NM_153638.4(PANK2):c.283C>T (p.Leu95Phe) rs558404718
NM_153638.4(PANK2):c.31G>A (p.Val11Ile) rs886044063
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) rs760822872
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650
NM_153638.4(PANK2):c.55C>T (p.Leu19Phe) rs1568549056
NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)
NM_153638.4(PANK2):c.9G>T (p.Arg3Ser) rs1211425299

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