Sugi Variant

Sugi Variant/AP5Z1

AP5Z1 — 1203 ClinVar variants

All ClinVar germline AP5Z1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 464 flagged for review →

25 Pathogenic · 11 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 97 Conflicting · 90 Benign · 28 Benign/Likely benign · 326 Likely benign · 595 Uncertain significance

Full AP5Z1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 464

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 17

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 238

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 238

Predictors split 208

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 208

All AP5Z1 variants

Pathogenic 25

  • p.Gln578Ter Multiple submitters inherited retinal dystrophy
  • c.1596-3C>G Single submitter hereditary spastic paraplegia 48
  • c.1939-1G>A Single submitter hereditary spastic paraplegia 48
  • p.Ala440_Trp441insTer Single submitter hereditary spastic paraplegia 48
  • p.Asn577fs Single submitter hereditary spastic paraplegia 48
  • p.Asp235fs Single submitter hereditary spastic paraplegia 48
  • p.Cys301Ter Single submitter hereditary spastic paraplegia 48
  • p.Cys693_Pro694insTer Single submitter hereditary spastic paraplegia 48
  • p.Cys693fs Single submitter hereditary spastic paraplegia 48
  • p.Gln17Ter Single submitter hereditary spastic paraplegia 48
  • p.Gln236Ter Single submitter hereditary spastic paraplegia 48
  • p.Gln696fs Single submitter hereditary spastic paraplegia 48
  • p.Gln70fs Single submitter hereditary spastic paraplegia 48
  • p.Glu449fs Single submitter hereditary spastic paraplegia 48
  • p.Glu652Ter Single submitter hereditary spastic paraplegia 48
  • p.Leu500fs Single submitter hereditary spastic paraplegia 48
  • p.Lys23Ter Single submitter hereditary spastic paraplegia 48
  • p.Lys437Ter Single submitter hereditary spastic paraplegia 48
  • p.Ser348fs Single submitter hereditary spastic paraplegia 48
  • p.Ser53Ter Single submitter hereditary spastic paraplegia 48
  • p.Thr224fs Single submitter hereditary spastic paraplegia 48
  • p.Trp441Ter Single submitter hereditary spastic paraplegia 48
  • p.Val357fs Single submitter hereditary spastic paraplegia 48
  • p.His780fs No assertion criteria inherited retinal dystrophy
  • p.Leu473fs No assertion criteria hereditary spastic paraplegia 48

Pathogenic/Likely pathogenic 11

  • c.1312-2A>G Multiple submitters hereditary spastic paraplegia 48
  • p.Arg138Ter Multiple submitters Macular dystrophy with or without extraocular features
  • p.Arg27_Ile28delinsLeuLeuTer Multiple submitters hereditary spastic paraplegia 48
  • p.Arg310Ter Multiple submitters hereditary spastic paraplegia 48
  • p.Arg311Ter Multiple submitters hereditary spastic paraplegia 48
  • p.Arg345Ter Multiple submitters hereditary spastic paraplegia 48
  • p.Asp317fs Multiple submitters hereditary spastic paraplegia 48
  • p.Gln241Ter Multiple submitters hereditary spastic paraplegia 48
  • p.Gln269Ter Multiple submitters hereditary spastic paraplegia 48
  • p.Leu120fs Multiple submitters hereditary spastic paraplegia 48
  • p.Ser574fs Multiple submitters hereditary spastic paraplegia 48

Likely pathogenic 31

Conflicting classifications of pathogenicity 97

  • c.1132+7C>T Single submitter hereditary spastic paraplegia 48
  • c.1455-12C>T Single submitter hereditary spastic paraplegia 48
  • c.1595+4C>T Single submitter hereditary spastic paraplegia 48
  • c.1707+14C>T Single submitter hereditary spastic paraplegia 48
  • c.1707+8C>T Single submitter hereditary spastic paraplegia 48
  • c.1805+8C>G Single submitter hereditary spastic paraplegia 48
  • c.1806-15C>T Single submitter hereditary spastic paraplegia 48
  • c.1938+11C>T Single submitter hereditary spastic paraplegia 48
  • c.2153+8G>A Single submitter hereditary spastic paraplegia 48
  • c.366+5C>T Single submitter hereditary spastic paraplegia 48
  • c.511+6C>T Single submitter hereditary spastic paraplegia 48
  • c.790+7G>A Single submitter hereditary spastic paraplegia 48
  • c.969+3_969+6dup Single submitter hereditary spastic paraplegia 48
  • c.970-12C>G Single submitter hereditary spastic paraplegia 48
  • c.970-4G>A Single submitter Inborn genetic diseases
  • c.970-5C>T Single submitter Inborn genetic diseases
  • c.*150G>A Single submitter hereditary spastic paraplegia 48
  • c.*1594C>A Single submitter hereditary spastic paraplegia
  • c.*1670G>C Single submitter hereditary spastic paraplegia 48
  • c.*2004C>T Single submitter hereditary spastic paraplegia
  • c.*2197A>G Single submitter hereditary spastic paraplegia 48
  • c.*532G>A Single submitter hereditary spastic paraplegia 48
  • c.*856G>A Single submitter hereditary spastic paraplegia 48
  • c.*92G>A Single submitter hereditary spastic paraplegia 48
  • p.Ala131Val Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala139= Single submitter hereditary spastic paraplegia 48
  • p.Ala139Val Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala283= Single submitter hereditary spastic paraplegia 48
  • p.Ala297= Single submitter hereditary spastic paraplegia
  • p.Ala452= Single submitter hereditary spastic paraplegia 48
  • p.Ala508Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala529Thr Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala534Ser Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala534Val Single submitter Inborn genetic diseases ⚠
  • p.Ala555= Single submitter hereditary spastic paraplegia 48
  • p.Ala598= Single submitter hereditary spastic paraplegia 48
  • p.Ala744= Single submitter hereditary spastic paraplegia 48
  • p.Ala87Thr Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Arg285His Single submitter Inborn genetic diseases ⚠
  • p.Arg290Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg294Gln Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Arg358Cys Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Arg510Trp Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Arg711Gly Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Arg792His Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Arg800= Single submitter hereditary spastic paraplegia 48
  • p.Asp234= Single submitter hereditary spastic paraplegia 48
  • p.Asp333= Single submitter hereditary spastic paraplegia 48
  • p.Gln519= Single submitter hereditary spastic paraplegia 48
  • p.Glu621= Single submitter hereditary spastic paraplegia 48
  • p.Gly316= Single submitter hereditary spastic paraplegia 48
  • p.Gly378Arg Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Gly423Arg Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Gly528= Single submitter hereditary spastic paraplegia 48
  • p.Gly595= Single submitter hereditary spastic paraplegia
  • p.Gly651= Single submitter hereditary spastic paraplegia
  • p.His195Arg Single submitter hereditary spastic paraplegia 48 ⚠
  • p.His354= Single submitter hereditary spastic paraplegia 48
  • p.Leu180= Single submitter hereditary spastic paraplegia 48
  • p.Leu332= Single submitter hereditary spastic paraplegia 48
  • p.Leu335Val Single submitter Inborn genetic diseases ⚠
  • p.Leu42= Single submitter hereditary spastic paraplegia 48
  • p.Leu439= Single submitter hereditary spastic paraplegia 48
  • p.Leu521= Single submitter hereditary spastic paraplegia
  • p.Leu533= Single submitter hereditary spastic paraplegia 48
  • p.Leu539= Single submitter hereditary spastic paraplegia 48
  • p.Leu614fs Single submitter Macular dystrophy with or without extraocular features
  • p.Lys525Gln Single submitter hereditary spastic paraplegia ⚠
  • p.Phe298= Single submitter hereditary spastic paraplegia
  • p.Phe373= Single submitter hereditary spastic paraplegia 48
  • p.Pro258Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro340Ser Single submitter ⚠
  • p.Pro39= Single submitter hereditary spastic paraplegia 48
  • p.Pro488= Single submitter hereditary spastic paraplegia 48
  • p.Pro717= Single submitter hereditary spastic paraplegia 48
  • p.Ser117= Single submitter hereditary spastic paraplegia 48
  • p.Ser228= Single submitter hereditary spastic paraplegia 48
  • p.Ser281Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser348Phe Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ser491= Single submitter hereditary spastic paraplegia 48
  • p.Ser655Leu Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Thr220= Single submitter hereditary spastic paraplegia 48
  • p.Thr233= Single submitter hereditary spastic paraplegia 48
  • p.Thr260= Single submitter hereditary spastic paraplegia
  • p.Thr280Ala Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Thr447= Single submitter hereditary spastic paraplegia 48
  • p.Thr558= Single submitter hereditary spastic paraplegia 48
  • p.Thr663= Single submitter Inborn genetic diseases
  • p.Thr769Ala Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Tyr186= Single submitter hereditary spastic paraplegia
  • p.Tyr57= Single submitter hereditary spastic paraplegia 48
  • p.Tyr591= Single submitter hereditary spastic paraplegia 48
  • p.Tyr658= Single submitter hereditary spastic paraplegia 48
  • p.Val161Met Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Val211Ile Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Val646Met Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Val763= Single submitter hereditary spastic paraplegia 48

Benign 90

Benign/Likely benign 28

  • c.1132+14G>T Multiple submitters hereditary spastic paraplegia 48
  • c.1133-19G>C Multiple submitters hereditary spastic paraplegia 48
  • c.1312-20C>T Multiple submitters hereditary spastic paraplegia 48
  • c.1708-14C>T Multiple submitters hereditary spastic paraplegia 48
  • c.1708-5C>T Multiple submitters hereditary spastic paraplegia
  • c.791-5C>T Multiple submitters hereditary spastic paraplegia 48
  • c.-1G>C Multiple submitters hereditary spastic paraplegia 48
  • c.-3G>A Multiple submitters hereditary spastic paraplegia
  • c.*205G>A Multiple submitters hereditary spastic paraplegia 48
  • c.*250T>G Multiple submitters hereditary spastic paraplegia 48
  • c.*276T>C Multiple submitters hereditary spastic paraplegia 48
  • c.*68G>A Multiple submitters hereditary spastic paraplegia 48
  • p.Ala478= Multiple submitters hereditary spastic paraplegia 48
  • p.Ala744Thr Multiple submitters hereditary spastic paraplegia ⚠
  • p.Arg143Gln Multiple submitters hereditary spastic paraplegia
  • p.Gln111His Multiple submitters hereditary spastic paraplegia 48
  • p.Glu127Lys Multiple submitters hereditary spastic paraplegia
  • p.Glu399= Multiple submitters hereditary spastic paraplegia 48
  • p.Gly123= Multiple submitters hereditary spastic paraplegia 48
  • p.Ser164Gly Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ser196= Multiple submitters hereditary spastic paraplegia 48
  • p.Ser385= Multiple submitters hereditary spastic paraplegia
  • p.Ser776Arg Multiple submitters hereditary spastic paraplegia 48
  • p.Ser94Cys Multiple submitters hereditary spastic paraplegia
  • p.Thr793= Multiple submitters hereditary spastic paraplegia
  • p.Tyr300= Multiple submitters hereditary spastic paraplegia 48
  • p.Tyr596= Multiple submitters hereditary spastic paraplegia 48
  • p.Val700Met Multiple submitters hereditary spastic paraplegia 48 ⚠

Likely benign 326

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1311+129T>C Multiple submitters
  • c.1454+57T>C Multiple submitters
  • c.1454+91C>T Multiple submitters
  • c.1455-36G>A Multiple submitters
  • c.1455-62C>T Multiple submitters
  • c.1595+29C>A Multiple submitters
  • c.1596-59C>T Multiple submitters
  • c.1707+232C>T Multiple submitters
  • c.1707+238A>G Multiple submitters
  • c.1708-102C>T Multiple submitters
  • c.1708-247A>C Multiple submitters
  • c.1805+115C>A Multiple submitters
  • c.1805+73C>G Multiple submitters
  • c.1806-167G>A Multiple submitters
  • c.1806-80G>C Multiple submitters
  • c.2154-52C>T Multiple submitters
  • c.42-144A>T Multiple submitters
  • c.42-146C>T Multiple submitters
  • c.42-77C>T Multiple submitters
  • c.511+104G>A Multiple submitters
  • c.511+66A>G Multiple submitters
  • c.512-111G>T Multiple submitters
  • c.791-124C>T Multiple submitters
  • c.791-4G>A Multiple submitters hereditary spastic paraplegia 48
  • c.969+34C>T Multiple submitters
  • c.*1039G>T Multiple submitters hereditary spastic paraplegia 48
  • c.*1505C>T Multiple submitters hereditary spastic paraplegia 48
  • c.*1687T>C Multiple submitters hereditary spastic paraplegia 48
  • c.*1701C>G Multiple submitters hereditary spastic paraplegia 48
  • c.*2093A>G Multiple submitters hereditary spastic paraplegia 48
  • c.*2882A>G Multiple submitters hereditary spastic paraplegia 48
  • c.*378T>C Multiple submitters hereditary spastic paraplegia 48
  • c.*586T>C Multiple submitters hereditary spastic paraplegia 48
  • c.*665T>C Multiple submitters hereditary spastic paraplegia 48
  • c.*761G>A Multiple submitters hereditary spastic paraplegia 48
  • p.Ala248= Multiple submitters hereditary spastic paraplegia 48
  • p.Ala387= Multiple submitters hereditary spastic paraplegia 48
  • p.Ala544= Multiple submitters hereditary spastic paraplegia 48
  • p.Asp182= Multiple submitters hereditary spastic paraplegia 48
  • p.Cys86= Multiple submitters hereditary spastic paraplegia 48
  • p.Gly135= Multiple submitters hereditary spastic paraplegia 48
  • p.Leu140= Multiple submitters hereditary spastic paraplegia 48
  • p.Leu370= Multiple submitters hereditary spastic paraplegia 48
  • p.Leu418= Multiple submitters hereditary spastic paraplegia 48
  • p.Leu420= Multiple submitters hereditary spastic paraplegia 48
  • p.Leu73= Multiple submitters hereditary spastic paraplegia 48
  • p.Phe342= Multiple submitters hereditary spastic paraplegia 48
  • p.Phe509= Multiple submitters hereditary spastic paraplegia 48
  • p.Pro592= Multiple submitters hereditary spastic paraplegia 48
  • p.Ser422= Multiple submitters hereditary spastic paraplegia 48
  • p.Thr106= Multiple submitters hereditary spastic paraplegia 48
  • p.Thr704= Multiple submitters hereditary spastic paraplegia 48
  • p.Thr785= Multiple submitters hereditary spastic paraplegia 48
  • p.Val181= Multiple submitters hereditary spastic paraplegia 48
  • c.1132+93_1132+96del Single submitter
  • c.1132+96del Single submitter
  • c.1133-12C>G Single submitter hereditary spastic paraplegia 48
  • c.1133-12C>T Single submitter hereditary spastic paraplegia 48
  • c.1133-15dup Single submitter hereditary spastic paraplegia 48
  • c.1133-16G>A Single submitter hereditary spastic paraplegia 48
  • c.1133-239C>T Single submitter
  • c.1311+11G>A Single submitter hereditary spastic paraplegia 48
  • c.1311+17C>G Single submitter hereditary spastic paraplegia 48
  • c.1311+239A>G Single submitter
  • c.1311+244G>C Single submitter
  • c.1311+7T>G Single submitter hereditary spastic paraplegia 48
  • c.1312-10G>A Single submitter hereditary spastic paraplegia 48
  • c.1455-148G>A Single submitter
  • c.1455-14G>A Single submitter hereditary spastic paraplegia 48
  • c.1455-15C>T Single submitter hereditary spastic paraplegia 48
  • c.1455-18G>A Single submitter hereditary spastic paraplegia 48
  • c.1455-4G>A Single submitter hereditary spastic paraplegia 48
  • c.1455-5C>T Single submitter hereditary spastic paraplegia 48
  • c.1455-7_1455-5dup Single submitter hereditary spastic paraplegia 48
  • c.1455-76G>A Single submitter
  • c.1595+10C>T Single submitter hereditary spastic paraplegia 48
  • c.1595+15G>A Single submitter hereditary spastic paraplegia 48
  • c.1595+16G>A Single submitter hereditary spastic paraplegia 48
  • c.1595+17C>A Single submitter hereditary spastic paraplegia 48
  • c.1595+19A>G Single submitter hereditary spastic paraplegia 48
  • c.1595+19A>T Single submitter hereditary spastic paraplegia 48
  • c.1595+8G>A Single submitter hereditary spastic paraplegia 48
  • c.1596-19G>A Single submitter hereditary spastic paraplegia 48
  • c.1596-20C>A Single submitter hereditary spastic paraplegia 48
  • c.1596-20C>T Single submitter hereditary spastic paraplegia 48
  • c.1596-5C>T Single submitter hereditary spastic paraplegia 48
  • c.1707+16G>A Single submitter hereditary spastic paraplegia 48
  • c.1707+249_1707+291del Single submitter
  • c.1707+314C>T Single submitter
  • c.1708-11C>T Single submitter hereditary spastic paraplegia 48
  • c.1708-16C>T Single submitter hereditary spastic paraplegia 48
  • c.1708-18C>T Single submitter hereditary spastic paraplegia 48
  • c.1708-291C>T Single submitter
  • c.1708-6C>T Single submitter hereditary spastic paraplegia 48
  • c.179+113T>G Single submitter
  • c.179+15G>A Single submitter hereditary spastic paraplegia 48
  • c.180-16G>A Single submitter hereditary spastic paraplegia 48
  • c.180-19C>T Single submitter hereditary spastic paraplegia 48
  • c.180-28C>T Single submitter
  • c.180-9G>A Single submitter hereditary spastic paraplegia 48
  • c.1805+11C>T Single submitter hereditary spastic paraplegia 48
  • c.1805+13T>C Single submitter hereditary spastic paraplegia 48
  • c.1805+16G>A Single submitter hereditary spastic paraplegia 48
  • c.1805+20C>G Single submitter hereditary spastic paraplegia 48
  • c.1805+212C>T Single submitter
  • c.1805+24C>T Single submitter
  • c.1805+7C>T Single submitter hereditary spastic paraplegia 48
  • c.1806-12C>G Single submitter hereditary spastic paraplegia 48
  • c.1806-14G>A Single submitter hereditary spastic paraplegia 48
  • c.1806-4G>A Single submitter hereditary spastic paraplegia 48
  • c.1938+12G>A Single submitter hereditary spastic paraplegia 48
  • c.1938+18C>T Single submitter hereditary spastic paraplegia 48
  • c.1938+8G>A Single submitter hereditary spastic paraplegia 48
  • c.1938+9G>C Single submitter hereditary spastic paraplegia 48
  • c.1939-10C>G Single submitter hereditary spastic paraplegia 48
  • c.1939-11C>A Single submitter hereditary spastic paraplegia 48
  • c.1939-11C>T Single submitter hereditary spastic paraplegia 48
  • c.1939-16_1939-15del Single submitter hereditary spastic paraplegia 48
  • c.1939-5C>T Single submitter hereditary spastic paraplegia 48
  • c.1939-6del Single submitter hereditary spastic paraplegia 48
  • c.2153+13G>A Single submitter hereditary spastic paraplegia 48
  • c.2153+8G>C Single submitter hereditary spastic paraplegia 48
  • c.2154-13C>T Single submitter hereditary spastic paraplegia 48
  • c.2154-15A>T Single submitter hereditary spastic paraplegia 48
  • c.2154-15dup Single submitter
  • c.2154-16G>A Single submitter hereditary spastic paraplegia 48
  • c.2154-16G>C Single submitter hereditary spastic paraplegia 48
  • c.2154-18G>A Single submitter hereditary spastic paraplegia 48
  • c.2154-4C>G Single submitter hereditary spastic paraplegia 48
  • c.2154-5C>T Single submitter hereditary spastic paraplegia 48
  • c.2154-83C>T Single submitter
  • c.366+16C>T Single submitter hereditary spastic paraplegia 48
  • c.366+19C>T Single submitter hereditary spastic paraplegia 48
  • c.366+9G>A Single submitter hereditary spastic paraplegia 48
  • c.367-7T>C Single submitter
  • c.41+18C>A Single submitter hereditary spastic paraplegia 48
  • c.41+19C>T Single submitter hereditary spastic paraplegia 48
  • c.41+232T>G Single submitter
  • c.41+8_41+9del Single submitter hereditary spastic paraplegia 48
  • c.511+19A>G Single submitter hereditary spastic paraplegia 48
  • c.511+8G>A Single submitter hereditary spastic paraplegia 48
  • c.511+9G>T Single submitter hereditary spastic paraplegia 48
  • c.512-13C>T Single submitter hereditary spastic paraplegia 48
  • c.621+11G>T Single submitter hereditary spastic paraplegia 48
  • c.621+18C>G Single submitter hereditary spastic paraplegia 48
  • c.622-13G>A Single submitter hereditary spastic paraplegia 48
  • c.622-7C>T Single submitter hereditary spastic paraplegia 48
  • c.790+10G>A Single submitter hereditary spastic paraplegia 48
  • c.790+7G>C Single submitter
  • c.791-10C>T Single submitter hereditary spastic paraplegia 48
  • c.791-222G>A Single submitter
  • c.791-5C>G Single submitter hereditary spastic paraplegia 48
  • c.791-6C>T Single submitter hereditary spastic paraplegia 48
  • c.791-7_791-5dup Single submitter hereditary spastic paraplegia 48
  • c.931+10C>A Single submitter hereditary spastic paraplegia 48
  • c.931+15del Single submitter hereditary spastic paraplegia 48
  • c.932-12C>T Single submitter hereditary spastic paraplegia 48
  • c.932-19C>T Single submitter hereditary spastic paraplegia 48
  • c.932-7C>A Single submitter hereditary spastic paraplegia 48
  • c.969+14G>A Single submitter hereditary spastic paraplegia 48
  • c.969+17C>T Single submitter hereditary spastic paraplegia 48
  • c.969+18A>G Single submitter hereditary spastic paraplegia 48
  • c.969+22_969+27dup Single submitter hereditary spastic paraplegia 48
  • c.970-13C>G Single submitter hereditary spastic paraplegia 48
  • c.*1039G>C Single submitter hereditary spastic paraplegia 48
  • c.*1182C>T Single submitter hereditary spastic paraplegia 48
  • c.*1355G>A Single submitter hereditary spastic paraplegia 48
  • c.*1441C>T Single submitter hereditary spastic paraplegia 48
  • c.*1555C>G Single submitter hereditary spastic paraplegia 48
  • c.*2198G>C Single submitter hereditary spastic paraplegia 48
  • c.*2286G>A Single submitter hereditary spastic paraplegia 48
  • c.*2500C>T Single submitter hereditary spastic paraplegia 48
  • c.*2710A>G Single submitter hereditary spastic paraplegia 48
  • c.*2812C>T Single submitter hereditary spastic paraplegia 48
  • c.*765C>G Single submitter hereditary spastic paraplegia 48
  • c.*901C>T Single submitter hereditary spastic paraplegia 48
  • c.*922C>T Single submitter hereditary spastic paraplegia 48
  • p.Ala116= Single submitter
  • p.Ala131= Single submitter hereditary spastic paraplegia 48
  • p.Ala187= Single submitter hereditary spastic paraplegia 48
  • p.Ala205= Single submitter hereditary spastic paraplegia 48
  • p.Ala312= Single submitter hereditary spastic paraplegia 48
  • p.Ala328= Single submitter hereditary spastic paraplegia 48
  • p.Ala469= Single submitter hereditary spastic paraplegia 48
  • p.Ala502= Single submitter hereditary spastic paraplegia 48
  • p.Ala508= Single submitter hereditary spastic paraplegia 48
  • p.Ala550= Single submitter hereditary spastic paraplegia 48
  • p.Ala562= Single submitter hereditary spastic paraplegia 48
  • p.Ala640= Single submitter hereditary spastic paraplegia 48
  • p.Ala673= Single submitter hereditary spastic paraplegia 48
  • p.Ala719= Single submitter hereditary spastic paraplegia 48
  • p.Ala734= Single submitter hereditary spastic paraplegia 48
  • p.Ala751= Single submitter hereditary spastic paraplegia 48
  • p.Ala802= Single submitter hereditary spastic paraplegia 48
  • p.Arg204= Single submitter hereditary spastic paraplegia 48
  • p.Arg290= Single submitter
  • p.Arg356= Single submitter hereditary spastic paraplegia 48
  • p.Arg358= Single submitter hereditary spastic paraplegia 48
  • p.Arg510= Single submitter hereditary spastic paraplegia 48
  • p.Arg523= Single submitter hereditary spastic paraplegia 48
  • p.Arg532= Single submitter Inborn genetic diseases
  • p.Arg624= Single submitter hereditary spastic paraplegia 48
  • p.Arg639= Single submitter hereditary spastic paraplegia 48
  • p.Arg750= Single submitter hereditary spastic paraplegia 48
  • p.Arg781= Single submitter hereditary spastic paraplegia 48
  • p.Asn108= Single submitter hereditary spastic paraplegia 48
  • p.Asn126= Single submitter hereditary spastic paraplegia 48
  • p.Asn239= Single submitter hereditary spastic paraplegia 48
  • p.Asn309= Single submitter hereditary spastic paraplegia 48
  • p.Asn417= Single submitter hereditary spastic paraplegia 48
  • p.Asp18= Single submitter
  • p.Asp319= Single submitter
  • p.Asp40= Single submitter hereditary spastic paraplegia 48
  • p.Asp572= Single submitter hereditary spastic paraplegia 48
  • p.Cys301= Single submitter hereditary spastic paraplegia 48
  • p.Cys336= Single submitter hereditary spastic paraplegia 48
  • p.Cys65= Single submitter hereditary spastic paraplegia 48
  • p.Gln683= Single submitter hereditary spastic paraplegia 48
  • p.Gln696= Single submitter hereditary spastic paraplegia 48
  • p.Gln70= Single submitter hereditary spastic paraplegia 48
  • p.Glu146= Single submitter hereditary spastic paraplegia 48
  • p.Glu291= Single submitter hereditary spastic paraplegia 48
  • p.Glu379= Single submitter hereditary spastic paraplegia 48
  • p.Glu672= Single submitter hereditary spastic paraplegia 48
  • p.Glu675= Single submitter hereditary spastic paraplegia 48
  • p.Gly545= Single submitter hereditary spastic paraplegia 48
  • p.Gly631= Single submitter hereditary spastic paraplegia 48
  • p.His468= Single submitter hereditary spastic paraplegia 48
  • p.His537= Single submitter hereditary spastic paraplegia 48
  • p.His601= Single submitter hereditary spastic paraplegia 48
  • p.Ile576= Single submitter hereditary spastic paraplegia 48
  • p.Ile650= Single submitter hereditary spastic paraplegia 48
  • p.Ile716= Single submitter hereditary spastic paraplegia 48
  • p.Leu119= Single submitter hereditary spastic paraplegia 48
  • p.Leu120= Single submitter hereditary spastic paraplegia 48
  • p.Leu176= Single submitter
  • p.Leu184= Single submitter hereditary spastic paraplegia 48
  • p.Leu193= Single submitter hereditary spastic paraplegia 48
  • p.Leu226= Single submitter
  • p.Leu251= Single submitter hereditary spastic paraplegia 48
  • p.Leu274= Single submitter hereditary spastic paraplegia 48
  • p.Leu320= Single submitter hereditary spastic paraplegia 48
  • p.Leu330= Single submitter hereditary spastic paraplegia 48
  • p.Leu367= Single submitter hereditary spastic paraplegia 48
  • p.Leu428= Single submitter hereditary spastic paraplegia 48
  • p.Leu473= Single submitter
  • p.Leu476= Single submitter hereditary spastic paraplegia 48
  • p.Leu495= Single submitter hereditary spastic paraplegia 48
  • p.Leu50= Single submitter
  • p.Leu500= Single submitter hereditary spastic paraplegia 48
  • p.Leu517= Single submitter
  • p.Leu540= Single submitter hereditary spastic paraplegia 48
  • p.Leu560= Single submitter
  • p.Leu581= Single submitter hereditary spastic paraplegia 48
  • p.Leu583= Single submitter hereditary spastic paraplegia 48
  • p.Leu611= Single submitter hereditary spastic paraplegia 48
  • p.Leu618= Single submitter hereditary spastic paraplegia 48
  • p.Leu622= Single submitter hereditary spastic paraplegia 48
  • p.Leu627= Single submitter hereditary spastic paraplegia 48
  • p.Leu630= Single submitter hereditary spastic paraplegia 48
  • p.Leu642= Single submitter hereditary spastic paraplegia 48
  • p.Leu674= Single submitter
  • p.Leu715= Single submitter hereditary spastic paraplegia 48
  • p.Leu757= Single submitter
  • p.Leu758= Single submitter hereditary spastic paraplegia 48
  • p.Leu787= Single submitter hereditary spastic paraplegia 48
  • p.Leu789= Single submitter hereditary spastic paraplegia 48
  • p.Leu797= Single submitter hereditary spastic paraplegia 48
  • p.Phe200del Single submitter hereditary spastic paraplegia 48
  • p.Phe413= Single submitter
  • p.Phe608Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe670= Single submitter hereditary spastic paraplegia 48
  • p.Phe671= Single submitter hereditary spastic paraplegia 48
  • p.Pro155= Single submitter hereditary spastic paraplegia 48
  • p.Pro165= Single submitter hereditary spastic paraplegia 48
  • p.Pro210= Single submitter hereditary spastic paraplegia 48
  • p.Pro255= Single submitter hereditary spastic paraplegia 48
  • p.Pro288= Single submitter hereditary spastic paraplegia 48
  • p.Pro340= Single submitter hereditary spastic paraplegia 48
  • p.Pro361= Single submitter hereditary spastic paraplegia 48
  • p.Pro397= Single submitter hereditary spastic paraplegia 48
  • p.Pro455= Single submitter hereditary spastic paraplegia 48
  • p.Pro512= Single submitter hereditary spastic paraplegia 48
  • p.Pro695= Single submitter hereditary spastic paraplegia 48
  • p.Pro733= Single submitter hereditary spastic paraplegia 48
  • p.Pro761= Single submitter hereditary spastic paraplegia 48
  • p.Ser109= Single submitter
  • p.Ser244= Single submitter hereditary spastic paraplegia 48
  • p.Ser272= Single submitter hereditary spastic paraplegia 48
  • p.Ser275= Single submitter hereditary spastic paraplegia 48
  • p.Ser278= Single submitter hereditary spastic paraplegia 48
  • p.Ser318= Single submitter hereditary spastic paraplegia 48
  • p.Ser341= Single submitter hereditary spastic paraplegia 48
  • p.Ser448= Single submitter hereditary spastic paraplegia 48
  • p.Ser587= Single submitter
  • p.Ser589= Single submitter hereditary spastic paraplegia 48
  • p.Ser632= Single submitter hereditary spastic paraplegia 48
  • p.Ser641= Single submitter hereditary spastic paraplegia 48
  • p.Ser710= Single submitter hereditary spastic paraplegia 48
  • p.Ser732= Single submitter hereditary spastic paraplegia 48

Uncertain significance 595

Showing the top 300 by review status; the full set is in the sitemap.

  • c.180-3C>G Multiple submitters
  • c.1938+7C>T Multiple submitters hereditary spastic paraplegia 48
  • c.511+5G>A Multiple submitters hereditary spastic paraplegia 48
  • c.790+6C>T Multiple submitters hereditary spastic paraplegia 48
  • c.*1162C>G Multiple submitters hereditary spastic paraplegia 48
  • c.*1576T>G Multiple submitters hereditary spastic paraplegia 48
  • c.*158C>A Multiple submitters hereditary spastic paraplegia 48
  • c.*2642T>G Multiple submitters hereditary spastic paraplegia 48
  • c.*561C>T Multiple submitters hereditary spastic paraplegia 48
  • c.*880C>T Multiple submitters hereditary spastic paraplegia 48
  • c.*910G>A Multiple submitters hereditary spastic paraplegia 48
  • p.Ala121Val Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ala279Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala440Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala460Ser Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ala469Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala478Val Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ala640Val Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ala730Val Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ala744Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala790_Leu791del Multiple submitters hereditary spastic paraplegia 48
  • p.Ala88Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg110Gln Multiple submitters hereditary spastic paraplegia ⚠
  • p.Arg110Trp Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg179Gln Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg179Trp Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg206Gln Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg231Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg247Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg247Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg27Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg285Cys Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg292Trp Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg294Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg303His Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg310Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg310Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg337Gln Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg337Trp Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg358_Val366del Multiple submitters hereditary spastic paraplegia 48
  • p.Arg523Cys Multiple submitters hereditary spastic paraplegia ⚠
  • p.Arg523His Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg548Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg548His Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg59Gln Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg639Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg660Trp Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg685Cys Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg685His Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg711Trp Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg727Lys Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg750Trp Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg792Cys Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg796Gln Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg796Trp Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg800Lys Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Arg91Gln Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Asn784Lys Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Asp43Asn Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Asp588Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp625Asn Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Asp782Gly Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Gln390Glu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Glu19Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu379Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu449Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu672Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu672Lys Multiple submitters hereditary spastic paraplegia ⚠
  • p.Glu741Gln Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Glu741Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu80Lys Multiple submitters hereditary spastic paraplegia ⚠
  • p.Gly166Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly192Glu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Gly197Ser Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Gly229Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly573Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly599Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly599Ser Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Gly651Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly803Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His105Tyr Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ile650Ser Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Leu293His Multiple submitters ⚠
  • p.Leu325Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu330Val Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Leu392Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu430Val Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Leu439Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu454Phe Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Leu500Phe Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Leu536Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu575Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu590Phe Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Leu636Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met702_Leu705dup Multiple submitters hereditary spastic paraplegia 48
  • p.Met702Thr Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Phe199Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Phe563Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe670Leu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Phe679Leu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Pro208= Multiple submitters hereditary spastic paraplegia 48
  • p.Pro208Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro210Ser Multiple submitters hereditary spastic paraplegia ⚠
  • p.Pro288Leu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Pro361Leu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Pro397Leu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Pro445Leu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Pro488Leu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Pro733Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro733Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro788_Leu791del Multiple submitters hereditary spastic paraplegia 48
  • p.Pro95Ser Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ser100Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser201Phe Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ser244Cys Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ser318Ala Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ser346Thr Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ser3Leu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ser403Asn Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ser44Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser589Leu Multiple submitters hereditary spastic paraplegia ⚠
  • p.Ser589Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Ser58Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser641Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser687Cys Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Ser732Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr106Met Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Thr167Asn Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Thr202Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr224Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr260Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr280Pro Multiple submitters hereditary spastic paraplegia ⚠
  • p.Thr394Ile Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Thr447Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr447Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr462Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr558Met Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Thr55Met Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Thr657Ile Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Thr682Ile Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Thr704Met Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Thr706Met Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Tyr186His Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Tyr591His Multiple submitters Inborn genetic diseases ⚠
  • p.Val115Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val129Phe Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Val132Met Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Val160Ile Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Val329Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val334Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val549Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val633Met Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Val664Met Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Val66Ile Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Val697Leu Multiple submitters hereditary spastic paraplegia 48 ⚠
  • p.Val763Met Multiple submitters hereditary spastic paraplegia 48 ⚠
  • c.1132+10G>A Single submitter hereditary spastic paraplegia 48
  • c.1312-9T>G Single submitter hereditary spastic paraplegia 48
  • c.1454+5G>T Single submitter hereditary spastic paraplegia 48
  • c.1454+6C>T Single submitter hereditary spastic paraplegia 48
  • c.1595+5G>A Single submitter hereditary spastic paraplegia 48
  • c.1596-12_1596-11del Single submitter hereditary spastic paraplegia 48
  • c.1596-3C>T Single submitter hereditary spastic paraplegia 48
  • c.1707+11_1707+12delinsCC Single submitter hereditary spastic paraplegia 48
  • c.1707+11_1707+12inv Single submitter hereditary spastic paraplegia 48
  • c.1707+5G>A Single submitter hereditary spastic paraplegia 48
  • c.1708-19T>G Single submitter hereditary spastic paraplegia 48
  • c.179+3G>A Single submitter hereditary spastic paraplegia 48
  • c.180-18G>A Single submitter Macular dystrophy with or without extraocular features
  • c.180-3C>T Single submitter hereditary spastic paraplegia 48
  • c.1805+4G>A Single submitter Inborn genetic diseases
  • c.366+4G>A Single submitter hereditary spastic paraplegia 48
  • c.790+15G>A Single submitter hereditary spastic paraplegia 48
  • c.791-3C>T Single submitter hereditary spastic paraplegia 48
  • c.931+2dup Single submitter
  • c.932-19C>G Single submitter hereditary spastic paraplegia 48
  • c.-26C>T Single submitter hereditary spastic paraplegia 48
  • c.-68G>T Single submitter hereditary spastic paraplegia 48
  • c.*1003C>A Single submitter hereditary spastic paraplegia 48
  • c.*1065C>T Single submitter hereditary spastic paraplegia 48
  • c.*1094G>A Single submitter hereditary spastic paraplegia 48
  • c.*10G>A Single submitter hereditary spastic paraplegia
  • c.*1187G>A Single submitter hereditary spastic paraplegia 48
  • c.*119C>A Single submitter hereditary spastic paraplegia 48
  • c.*1203G>A Single submitter hereditary spastic paraplegia 48
  • c.*1204C>G Single submitter hereditary spastic paraplegia 48
  • c.*1219C>T Single submitter hereditary spastic paraplegia 48
  • c.*1220A>G Single submitter hereditary spastic paraplegia 48
  • c.*1260G>A Single submitter hereditary spastic paraplegia 48
  • c.*1266C>T Single submitter hereditary spastic paraplegia 48
  • c.*1357T>G Single submitter hereditary spastic paraplegia 48
  • c.*1458C>T Single submitter hereditary spastic paraplegia 48
  • c.*1480T>G Single submitter hereditary spastic paraplegia 48
  • c.*149C>G Single submitter hereditary spastic paraplegia 48
  • c.*149C>T Single submitter hereditary spastic paraplegia 48
  • c.*152G>T Single submitter hereditary spastic paraplegia 48
  • c.*1562C>T Single submitter hereditary spastic paraplegia 48
  • c.*1586C>T Single submitter hereditary spastic paraplegia 48
  • c.*1587G>A Single submitter hereditary spastic paraplegia 48
  • c.*1641A>C Single submitter hereditary spastic paraplegia 48
  • c.*1679C>T Single submitter hereditary spastic paraplegia 48
  • c.*1701C>T Single submitter hereditary spastic paraplegia 48
  • c.*1733C>T Single submitter hereditary spastic paraplegia 48
  • c.*1736C>G Single submitter hereditary spastic paraplegia 48
  • c.*1738C>T Single submitter hereditary spastic paraplegia 48
  • c.*1750G>C Single submitter hereditary spastic paraplegia 48
  • c.*1760G>A Single submitter hereditary spastic paraplegia 48
  • c.*1794C>T Single submitter hereditary spastic paraplegia 48
  • c.*1866C>A Single submitter hereditary spastic paraplegia 48
  • c.*1881A>T Single submitter hereditary spastic paraplegia 48
  • c.*189G>A Single submitter hereditary spastic paraplegia 48
  • c.*190A>C Single submitter hereditary spastic paraplegia 48
  • c.*1930T>C Single submitter hereditary spastic paraplegia 48
  • c.*19C>T Single submitter hereditary spastic paraplegia 48
  • c.*2013C>T Single submitter hereditary spastic paraplegia 48
  • c.*2068C>A Single submitter hereditary spastic paraplegia 48
  • c.*206G>C Single submitter hereditary spastic paraplegia 48
  • c.*2109G>A Single submitter hereditary spastic paraplegia 48
  • c.*2153G>A Single submitter hereditary spastic paraplegia 48
  • c.*2167G>A Single submitter hereditary spastic paraplegia 48
  • c.*2185C>T Single submitter hereditary spastic paraplegia 48
  • c.*2222G>A Single submitter hereditary spastic paraplegia 48
  • c.*2228C>T Single submitter hereditary spastic paraplegia 48
  • c.*2241G>A Single submitter hereditary spastic paraplegia 48
  • c.*2243C>T Single submitter hereditary spastic paraplegia 48
  • c.*2244G>A Single submitter hereditary spastic paraplegia 48
  • c.*229G>A Single submitter hereditary spastic paraplegia 48
  • c.*2306G>T Single submitter hereditary spastic paraplegia 48
  • c.*2328G>A Single submitter hereditary spastic paraplegia 48
  • c.*2334C>T Single submitter hereditary spastic paraplegia 48
  • c.*2338G>A Single submitter hereditary spastic paraplegia 48
  • c.*2363C>T Single submitter hereditary spastic paraplegia 48
  • c.*2364G>A Single submitter hereditary spastic paraplegia 48
  • c.*2411C>T Single submitter hereditary spastic paraplegia 48
  • c.*241G>A Single submitter hereditary spastic paraplegia 48
  • c.*2490G>C Single submitter hereditary spastic paraplegia 48
  • c.*2496G>A Single submitter hereditary spastic paraplegia 48
  • c.*2503G>A Single submitter hereditary spastic paraplegia 48
  • c.*2574C>T Single submitter hereditary spastic paraplegia 48
  • c.*261G>A Single submitter hereditary spastic paraplegia 48
  • c.*2624A>G Single submitter hereditary spastic paraplegia 48
  • c.*2639G>C Single submitter hereditary spastic paraplegia 48
  • c.*2678T>C Single submitter hereditary spastic paraplegia 48
  • c.*2695T>C Single submitter hereditary spastic paraplegia 48
  • c.*2719C>A Single submitter hereditary spastic paraplegia 48
  • c.*2760G>A Single submitter hereditary spastic paraplegia 48
  • c.*2784C>T Single submitter hereditary spastic paraplegia 48
  • c.*278G>A Single submitter hereditary spastic paraplegia 48
  • c.*2838A>G Single submitter hereditary spastic paraplegia 48
  • c.*2858G>C Single submitter hereditary spastic paraplegia 48
  • c.*2940C>T Single submitter hereditary spastic paraplegia 48
  • c.*2983C>T Single submitter hereditary spastic paraplegia 48
  • c.*346A>G Single submitter hereditary spastic paraplegia 48
  • c.*373G>A Single submitter hereditary spastic paraplegia 48
  • c.*432C>G Single submitter hereditary spastic paraplegia 48
  • c.*527G>A Single submitter hereditary spastic paraplegia 48
  • c.*531G>A Single submitter hereditary spastic paraplegia 48
  • c.*537G>A Single submitter hereditary spastic paraplegia 48
  • c.*625G>A Single submitter hereditary spastic paraplegia 48
  • c.*629C>T Single submitter hereditary spastic paraplegia 48
  • c.*648C>T Single submitter hereditary spastic paraplegia 48
  • c.*668G>A Single submitter hereditary spastic paraplegia 48
  • c.*669G>T Single submitter hereditary spastic paraplegia 48
  • c.*683G>A Single submitter hereditary spastic paraplegia 48
  • c.*690A>G Single submitter hereditary spastic paraplegia 48
  • c.*734G>C Single submitter hereditary spastic paraplegia 48
  • c.*754G>A Single submitter hereditary spastic paraplegia 48
  • c.*765C>T Single submitter hereditary spastic paraplegia 48
  • c.*766C>T Single submitter hereditary spastic paraplegia 48
  • c.*7A>G Single submitter hereditary spastic paraplegia 48
  • c.*806G>C Single submitter hereditary spastic paraplegia 48
  • c.*820C>G Single submitter hereditary spastic paraplegia 48
  • c.*833C>G Single submitter hereditary spastic paraplegia 48
  • c.*843G>A Single submitter hereditary spastic paraplegia 48
  • c.*897G>A Single submitter hereditary spastic paraplegia 48
  • c.*940T>A Single submitter hereditary spastic paraplegia 48
  • c.*971C>G Single submitter hereditary spastic paraplegia 48
  • c.*999C>T Single submitter hereditary spastic paraplegia 48
  • p.Ala121Thr Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala13Pro Single submitter ⚠
  • p.Ala173Val Single submitter ⚠
  • p.Ala187Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala187Thr Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala187Val Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala205Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala219Gly Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala242Pro Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala242Val Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala248Val Single submitter Inborn genetic diseases ⚠
  • p.Ala283Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala297Gly Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala312Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala312Val Single submitter Inborn genetic diseases ⚠
  • p.Ala323Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala371Thr Single submitter hereditary spastic paraplegia ⚠
  • p.Ala380= Single submitter hereditary spastic paraplegia 48
  • p.Ala382Thr Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala387Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala460Thr Single submitter hereditary spastic paraplegia 48 ⚠
  • p.Ala463Gly Single submitter Inborn genetic diseases ⚠