AP4M1 — 476 ClinVar variants
All ClinVar germline AP4M1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →
31 Pathogenic · 9 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 19 Conflicting · 31 Benign · 7 Benign/Likely benign · 169 Likely benign · 185 Uncertain significance
Full AP4M1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 171
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AP4M1 p.Gly243Ser
Pathogenic
Single submitter
Inborn genetic diseases
-
AP4M1 p.Arg227His
Likely pathogenic
No assertion criteria
Spastic paraplegia
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AP4M1 p.Ala448Thr
Conflicting
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Arg318Gln
Conflicting
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Glu111Asp
Conflicting
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Glu99Lys
Conflicting
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Phe409Leu
Conflicting
Single submitter
hereditary spastic paraplegia 50
Predictors lean, ClinVar uncertain 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AP4M1 p.Arg338Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Arg413Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg413Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg452Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg54His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Asp251Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Asp288Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
AP4M1 p.Asp43Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Gln4His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Gly153Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Gly432Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Ile453Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
AP4M1 p.Ile57Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Pro166Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Pro399Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Pro46Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Ser396Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Ser9Phe
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Thr127Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Tyr449Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Val208Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Val440Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Ala354Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
- AP4M1 p.Ala357Ser Uncertain significance Single submitter
-
AP4M1 p.Arg362Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Arg362His
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Arg413Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Arg441Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Asp114Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Asp19Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Asp251Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
AP4M1 p.Asp289Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Asp447Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- AP4M1 p.Gln420Arg Uncertain significance Single submitter
-
AP4M1 p.Glu111Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Glu111Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Glu128Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Gly100Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
- AP4M1 p.Gly120Val Uncertain significance Single submitter
- AP4M1 p.Gly22Arg Uncertain significance Single submitter
-
AP4M1 p.Gly26Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Gly277Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Gly307Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Gly384Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Gly53Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.His437Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.His52Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.His55Tyr
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.His58Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Ile102Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ile16Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ile248Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ile59Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Ile7Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Leu15Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Leu189Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Leu195Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Leu270Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Leu332Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Leu424Phe
Uncertain significance
Single submitter
AP-4 deficiency syndrome
-
AP4M1 p.Leu66Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Lys11Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Lys353Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
- AP4M1 p.Met129Val Uncertain significance Single submitter
-
AP4M1 p.Met226Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Met49Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
AP4M1 p.Phe264Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
AP4M1 p.Phe409Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Phe428Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Pro221Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Pro274Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Pro291His
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Pro430Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Pro76Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Ser126Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Ser168Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ser201Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ser308Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Ser62Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Thr159Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Thr280Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Thr38Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
- AP4M1 p.Thr69Pro Uncertain significance Single submitter
- AP4M1 p.Trp363Arg Uncertain significance Single submitter
-
AP4M1 p.Val122Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Val152Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Val29Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Val313Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 76
The independent predictors disagree with each other — read with care.
-
AP4M1 c.*449G>A
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Ala360Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Ala397Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg172Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Arg172His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg215Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Arg227Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg268Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Arg271Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg283Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg297Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Arg367Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
AP4M1 p.Arg367Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg422Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Arg452Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Glu410Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Gly392Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Leu261Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Leu82Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Pro293Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Pro46Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Ser171Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Ser204Phe
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Ser287Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP4M1 p.Val29Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Val330Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 50
-
AP4M1 p.Arg104Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Arg178Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Arg178Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Arg249Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Arg271Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Arg283Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Arg297Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Arg35Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- AP4M1 p.Arg413Pro Uncertain significance Single submitter
-
AP4M1 p.Arg60Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Asp288His
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Asp320Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Gln420Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Glu158Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Glu213Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Glu31Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Gly339Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Gly339Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Gly359Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Gly387Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Gly63Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.His414Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.His442Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ile102Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ile7Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Leu374Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Leu8Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Leu97Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Met226Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Met380Ile
Conflicting
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Pro143Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Pro337Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Pro383Arg
Uncertain significance
Single submitter
intellectual disability
-
AP4M1 p.Pro404Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ser10Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ser151Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
- AP4M1 p.Ser168Arg Uncertain significance Single submitter
-
AP4M1 p.Ser254Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ser266Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Ser325Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ser394Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Ser446Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Thr136Met
Conflicting
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Thr415Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Tyr121Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Val164Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Val236Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Val236Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 50
-
AP4M1 p.Val382Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP4M1 p.Val74Ile
Conflicting
Single submitter
hereditary spastic paraplegia 50
All AP4M1 variants
Pathogenic 31
- p.Arg268Ter Multiple submitters hereditary spastic paraplegia 50
- p.Arg306Ter Multiple submitters hereditary spastic paraplegia
- p.Arg318Ter Multiple submitters AP4M1-related disorder
- p.Arg338Ter Multiple submitters hereditary spastic paraplegia 50
- p.Asn73fs Multiple submitters hereditary spastic paraplegia 50
- p.Gln183Ter Multiple submitters hereditary spastic paraplegia 50
- p.Ser308Ter Multiple submitters hereditary spastic paraplegia 50
- p.Val281fs Multiple submitters hereditary spastic paraplegia 50
- c.52_58+6del Single submitter hereditary spastic paraplegia 50
- c.974+1G>A Single submitter hereditary spastic paraplegia 50
- c.974+2dup Single submitter intellectual disability
- p.Arg338fs Single submitter hereditary spastic paraplegia 50
- p.Arg441fs Single submitter hereditary spastic paraplegia 50
- p.Asn185fs Single submitter hereditary spastic paraplegia 50
- p.Asp118fs Single submitter Spastic paraplegia
- p.Asp190fs Single submitter hereditary spastic paraplegia 50
- p.Asp23fs Single submitter hereditary spastic paraplegia 50
- p.Asp288fs Single submitter hereditary spastic paraplegia 50
- p.Asp43fs Single submitter hereditary spastic paraplegia 50
- p.Gln135Ter Single submitter hereditary spastic paraplegia 50
- p.Glu233Ter Single submitter hereditary spastic paraplegia 50
- p.Gly243Ser Single submitter Inborn genetic diseases ⚠
- p.Leu298Pro Single submitter hereditary spastic paraplegia 50
- p.Lys18fs Single submitter congenital nervous system disorder
- p.Phe77fs Single submitter
- p.Pro246fs Single submitter
- p.Thr395fs Single submitter hereditary spastic paraplegia 50
- p.Trp304Ter Single submitter hereditary spastic paraplegia 50
- p.Tyr110Ter Single submitter
- p.Tyr65fs Single submitter
- p.Val259fs Single submitter hereditary spastic paraplegia 50
Pathogenic/Likely pathogenic 9
- c.1137+1G>T Multiple submitters hereditary spastic paraplegia 50
- p.Cys319Arg Multiple submitters Inborn genetic diseases
- p.Gln373Ter Multiple submitters intellectual disability
- p.Gln4Ter Multiple submitters hereditary spastic paraplegia 50
- p.Glu193Lys Multiple submitters AP-4 deficiency syndrome
- p.Leu377fs Multiple submitters
- p.Lys11fs Multiple submitters hereditary spastic paraplegia 50
- p.Trp439Ter Multiple submitters hereditary spastic paraplegia 50
- p.Val48fs Multiple submitters hereditary spastic paraplegia 50
Likely pathogenic 25
- c.930-1G>C Multiple submitters hereditary spastic paraplegia 50
- c.1138-1G>A Single submitter hereditary spastic paraplegia 50
- c.351+1G>A Single submitter hereditary spastic paraplegia 50
- c.463-2A>T Single submitter hereditary spastic paraplegia 50
- c.58+1_58+2del Single submitter hereditary spastic paraplegia 50
- c.58+2T>G Single submitter hereditary spastic paraplegia 50
- c.607-2_607-1del Single submitter hereditary spastic paraplegia 50
- p.Ala87fs Single submitter
- p.Cys319Tyr Single submitter
- p.Lys36fs Single submitter hereditary spastic paraplegia 50
- p.Ser167fs Single submitter hereditary spastic paraplegia 50
- p.Ser301fs Single submitter hereditary spastic paraplegia 50
- p.Ser408del Single submitter
- p.Thr125fs Single submitter hereditary spastic paraplegia 50
- p.Tyr119Ter Single submitter hereditary spastic paraplegia 50
- p.Tyr284Ser Single submitter hereditary spastic paraplegia 50
- p.Val68fs Single submitter hereditary spastic paraplegia 50
- c.1026-1G>T No assertion criteria Spastic paraplegia
- c.974+1G>T No assertion criteria Spastic paraplegia
- p.Arg227His No assertion criteria Spastic paraplegia ⚠
- p.Gln161Ter No assertion criteria
- p.Glu232fs No assertion criteria Spastic paraplegia
- p.Glu31fs No assertion criteria Spastic paraplegia
- p.Leu175fs No assertion criteria Spastic paraplegia
- p.Phe6fs No assertion criteria
Conflicting classifications of pathogenicity 19
- c.544-6T>G Single submitter Inborn genetic diseases
- c.607-2A>G Single submitter hereditary spastic paraplegia
- c.728-21TC[5] Single submitter hereditary spastic paraplegia 50
- c.929+5G>A Single submitter hereditary spastic paraplegia 50
- p.Ala448Thr Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg310= Single submitter hereditary spastic paraplegia
- p.Arg318Gln Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg441Ter Single submitter hereditary spastic paraplegia 50
- p.Cys431= Single submitter hereditary spastic paraplegia 50
- p.Glu111Asp Single submitter hereditary spastic paraplegia 50 ⚠
- p.Glu99Lys Single submitter hereditary spastic paraplegia 50 ⚠
- p.Gly376= Single submitter hereditary spastic paraplegia 50
- p.Gly63= Single submitter hereditary spastic paraplegia 50
- p.Met380Ile Single submitter hereditary spastic paraplegia 50 ⚠
- p.Phe409Leu Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ser348= Single submitter hereditary spastic paraplegia 50
- p.Thr136Met Single submitter hereditary spastic paraplegia 50 ⚠
- p.Val250= Single submitter hereditary spastic paraplegia 50
- p.Val74Ile Single submitter hereditary spastic paraplegia 50 ⚠
Benign 31
- c.1025+44T>C Multiple submitters hereditary spastic paraplegia 50
- c.147+35T>C Multiple submitters hereditary spastic paraplegia 50
- c.148-24C>G Multiple submitters
- c.255-16C>T Multiple submitters hereditary spastic paraplegia 50
- c.352-168A>G Multiple submitters
- c.462+34G>A Multiple submitters hereditary spastic paraplegia 50
- c.544-75T>C Multiple submitters hereditary spastic paraplegia 50
- c.58+12C>T Multiple submitters hereditary spastic paraplegia 50
- c.58+41G>A Multiple submitters
- c.930-77A>G Multiple submitters
- c.974+43G>C Multiple submitters
- c.-169A>T Multiple submitters
- c.*291A>T Multiple submitters
- c.*322A>G Multiple submitters Alazami-Yuan syndrome
- p.Arg271His Multiple submitters hereditary spastic paraplegia 50
- p.Asn435= Multiple submitters hereditary spastic paraplegia
- c.147+272del Single submitter
- c.147+272dup Single submitter
- c.148-245_148-244insC Single submitter
- c.351+122del Single submitter
- c.351+122dup Single submitter
- c.351+19del Single submitter hereditary spastic paraplegia 50
- c.543+194_543+195insA Single submitter
- c.543+194_543+195insAA Single submitter
- c.544-186dup Single submitter
- c.544-187_544-186dup Single submitter
- c.930-162del Single submitter
- c.930-163_930-162del Single submitter
- c.975-16C>G Single submitter hereditary spastic paraplegia 50
- p.Asp23Gly Single submitter hereditary spastic paraplegia 50
- p.Asp320= Single submitter hereditary spastic paraplegia 50
Benign/Likely benign 7
- p.Ala448= Multiple submitters hereditary spastic paraplegia 50
- p.Gly247Ala Multiple submitters hereditary spastic paraplegia 50
- p.Leu175= Multiple submitters hereditary spastic paraplegia 50
- p.Leu334= Multiple submitters hereditary spastic paraplegia
- p.Pro350= Multiple submitters hereditary spastic paraplegia 50
- p.Pro76= Multiple submitters hereditary spastic paraplegia
- p.Ser287= Multiple submitters hereditary spastic paraplegia 50
Likely benign 169
- c.1137+7G>A Multiple submitters hereditary spastic paraplegia 50
- c.147+242G>A Multiple submitters
- c.59-14C>G Multiple submitters hereditary spastic paraplegia 50
- c.975-14C>T Multiple submitters hereditary spastic paraplegia 50
- c.*387C>T Multiple submitters
- p.Asp251= Multiple submitters hereditary spastic paraplegia 50
- p.Asp381= Multiple submitters hereditary spastic paraplegia 50
- p.Ser257= Multiple submitters hereditary spastic paraplegia 50
- p.Thr415= Multiple submitters hereditary spastic paraplegia 50
- p.Val210= Multiple submitters hereditary spastic paraplegia 50
- p.Val259= Multiple submitters hereditary spastic paraplegia 50
- c.1025+18C>G Single submitter hereditary spastic paraplegia 50
- c.1025+19C>G Single submitter hereditary spastic paraplegia 50
- c.1025+20A>G Single submitter hereditary spastic paraplegia 50
- c.1026-10C>G Single submitter hereditary spastic paraplegia 50
- c.1026-20C>G Single submitter hereditary spastic paraplegia 50
- c.1137+10G>C Single submitter hereditary spastic paraplegia 50
- c.1137+16C>T Single submitter hereditary spastic paraplegia 50
- c.1138-15C>T Single submitter hereditary spastic paraplegia 50
- c.1138-17G>T Single submitter hereditary spastic paraplegia 50
- c.1138-4A>G Single submitter hereditary spastic paraplegia 50
- c.1138-8C>G Single submitter hereditary spastic paraplegia 50
- c.147+10G>A Single submitter hereditary spastic paraplegia 50
- c.147+12C>T Single submitter hereditary spastic paraplegia 50
- c.147+16_147+22dup Single submitter hereditary spastic paraplegia 50
- c.147+18dup Single submitter hereditary spastic paraplegia 50
- c.148-10T>C Single submitter hereditary spastic paraplegia 50
- c.148-11C>T Single submitter hereditary spastic paraplegia 50
- c.148-18T>C Single submitter hereditary spastic paraplegia 50
- c.254+14G>A Single submitter hereditary spastic paraplegia 50
- c.254+15del Single submitter hereditary spastic paraplegia 50
- c.254+17T>C Single submitter hereditary spastic paraplegia 50
- c.254+20G>A Single submitter hereditary spastic paraplegia 50
- c.255-10G>A Single submitter hereditary spastic paraplegia 50
- c.255-12G>A Single submitter hereditary spastic paraplegia 50
- c.255-12G>C Single submitter hereditary spastic paraplegia 50
- c.351+17C>T Single submitter hereditary spastic paraplegia 50
- c.351+18C>T Single submitter hereditary spastic paraplegia 50
- c.351+19C>T Single submitter hereditary spastic paraplegia 50
- c.351+8T>G Single submitter
- c.351+9C>G Single submitter hereditary spastic paraplegia 50
- c.351+9C>T Single submitter
- c.352-12C>T Single submitter hereditary spastic paraplegia 50
- c.352-18_352-17dup Single submitter hereditary spastic paraplegia 50
- c.462+15A>G Single submitter hereditary spastic paraplegia 50
- c.462+20_462+22del Single submitter hereditary spastic paraplegia 50
- c.463-15T>C Single submitter hereditary spastic paraplegia 50
- c.463-6T>C Single submitter
- c.543+11_543+14dup Single submitter hereditary spastic paraplegia 50
- c.543+11G>C Single submitter hereditary spastic paraplegia 50
- c.544-11C>T Single submitter hereditary spastic paraplegia 50
- c.544-13C>T Single submitter hereditary spastic paraplegia 50
- c.544-16TC[3] Single submitter hereditary spastic paraplegia 50
- c.544-7_544-6del Single submitter hereditary spastic paraplegia 50
- c.58+14T>C Single submitter hereditary spastic paraplegia 50
- c.59-11C>T Single submitter hereditary spastic paraplegia 50
- c.59-14C>T Single submitter hereditary spastic paraplegia 50
- c.59-16T>C Single submitter hereditary spastic paraplegia 50
- c.59-17G>A Single submitter hereditary spastic paraplegia 50
- c.59-8C>T Single submitter hereditary spastic paraplegia 50
- c.606+18A>C Single submitter hereditary spastic paraplegia 50
- c.606+200C>T Single submitter
- c.606+20C>T Single submitter hereditary spastic paraplegia 50
- c.607-12C>T Single submitter hereditary spastic paraplegia 50
- c.607-13C>T Single submitter hereditary spastic paraplegia 50
- c.607-286T>C Single submitter
- c.607-5C>T Single submitter hereditary spastic paraplegia 50
- c.607-94G>A Single submitter
- c.673+11T>C Single submitter hereditary spastic paraplegia 50
- c.673+18A>G Single submitter hereditary spastic paraplegia 50
- c.674-19_674-17del Single submitter hereditary spastic paraplegia 50
- c.674-19A>T Single submitter hereditary spastic paraplegia 50
- c.674-5G>A Single submitter hereditary spastic paraplegia 50
- c.674-6C>T Single submitter hereditary spastic paraplegia 50
- c.674-8_674-6del Single submitter hereditary spastic paraplegia 50
- c.728-12C>T Single submitter hereditary spastic paraplegia 50
- c.728-17T>C Single submitter hereditary spastic paraplegia 50
- c.728-21TC[6] Single submitter hereditary spastic paraplegia 50
- c.728-8C>T Single submitter hereditary spastic paraplegia 50
- c.834+8T>C Single submitter hereditary spastic paraplegia 50
- c.929+10T>C Single submitter hereditary spastic paraplegia 50
- c.930-11C>T Single submitter hereditary spastic paraplegia 50
- c.930-4C>G Single submitter hereditary spastic paraplegia 50
- c.930-6A>C Single submitter hereditary spastic paraplegia 50
- c.930-9C>T Single submitter
- c.974+16G>A Single submitter hereditary spastic paraplegia 50
- c.975-13G>A Single submitter hereditary spastic paraplegia 50
- c.975-13G>T Single submitter hereditary spastic paraplegia 50
- c.975-15C>T Single submitter hereditary spastic paraplegia 50
- c.975-16C>T Single submitter hereditary spastic paraplegia 50
- c.975-19G>A Single submitter hereditary spastic paraplegia 50
- c.975-8C>T Single submitter hereditary spastic paraplegia 50
- c.975-9C>T Single submitter hereditary spastic paraplegia 50
- c.-10C>T Single submitter
- c.*219G>T Single submitter
- c.*23C>T Single submitter hereditary spastic paraplegia
- p.Ala157= Single submitter hereditary spastic paraplegia 50
- p.Ala200= Single submitter hereditary spastic paraplegia 50
- p.Ala30= Single submitter hereditary spastic paraplegia 50
- p.Ala327= Single submitter hereditary spastic paraplegia 50
- p.Arg131= Single submitter hereditary spastic paraplegia 50
- p.Arg21= Single submitter
- p.Arg297= Single submitter hereditary spastic paraplegia 50
- p.Arg413Leu Single submitter hereditary spastic paraplegia 50
- p.Arg429= Single submitter hereditary spastic paraplegia 50
- p.Asn73= Single submitter hereditary spastic paraplegia 50
- p.Asp262= Single submitter hereditary spastic paraplegia 50
- p.Asp28= Single submitter hereditary spastic paraplegia 50
- p.Asp288= Single submitter hereditary spastic paraplegia 50
- p.Asp289= Single submitter hereditary spastic paraplegia 50
- p.Asp447= Single submitter hereditary spastic paraplegia 50
- p.Gln273= Single submitter hereditary spastic paraplegia 50
- p.Gln4= Single submitter hereditary spastic paraplegia 50
- p.Glu31= Single submitter hereditary spastic paraplegia 50
- p.Glu355= Single submitter
- p.Glu358= Single submitter hereditary spastic paraplegia 50
- p.Glu410= Single submitter hereditary spastic paraplegia 50
- p.Glu81= Single submitter hereditary spastic paraplegia 50
- p.Gly120= Single submitter hereditary spastic paraplegia 50
- p.Gly243= Single submitter hereditary spastic paraplegia 50
- p.Gly247= Single submitter hereditary spastic paraplegia 50
- p.Gly401= Single submitter hereditary spastic paraplegia 50
- p.Gly91= Single submitter hereditary spastic paraplegia 50
- p.Gly98= Single submitter hereditary spastic paraplegia 50
- p.Ile269= Single submitter hereditary spastic paraplegia 50
- p.Leu112= Single submitter hereditary spastic paraplegia 50
- p.Leu130= Single submitter hereditary spastic paraplegia 50
- p.Leu15= Single submitter hereditary spastic paraplegia 50
- p.Leu195= Single submitter hereditary spastic paraplegia 50
- p.Leu206= Single submitter hereditary spastic paraplegia 50
- p.Leu321= Single submitter hereditary spastic paraplegia 50
- p.Leu328= Single submitter hereditary spastic paraplegia 50
- p.Leu393= Single submitter
- p.Leu419= Single submitter hereditary spastic paraplegia 50
- p.Leu64= Single submitter hereditary spastic paraplegia 50
- p.Leu66= Single submitter hereditary spastic paraplegia 50
- p.Leu80= Single submitter hereditary spastic paraplegia 50
- p.Leu82= Single submitter hereditary spastic paraplegia 50
- p.Leu90= Single submitter hereditary spastic paraplegia 50
- p.Leu97= Single submitter hereditary spastic paraplegia 50
- p.Phe20= Single submitter hereditary spastic paraplegia 50
- p.Phe219= Single submitter
- p.Phe409= Single submitter hereditary spastic paraplegia 50
- p.Pro173= Single submitter hereditary spastic paraplegia 50
- p.Pro389= Single submitter hereditary spastic paraplegia 50
- p.Pro436= Single submitter hereditary spastic paraplegia 50
- p.Ser10= Single submitter hereditary spastic paraplegia 50
- p.Ser151= Single submitter hereditary spastic paraplegia 50
- p.Ser176= Single submitter hereditary spastic paraplegia 50
- p.Ser222= Single submitter hereditary spastic paraplegia 50
- p.Ser3= Single submitter hereditary spastic paraplegia 50
- p.Ser349= Single submitter hereditary spastic paraplegia 50
- p.Ser396= Single submitter hereditary spastic paraplegia 50
- p.Ser408= Single submitter hereditary spastic paraplegia 50
- p.Ser446= Single submitter hereditary spastic paraplegia 50
- p.Ser62= Single submitter
- p.Thr127= Single submitter hereditary spastic paraplegia 50
- p.Thr136= Single submitter hereditary spastic paraplegia 50
- p.Thr231= Single submitter hereditary spastic paraplegia 50
- p.Thr280= Single submitter hereditary spastic paraplegia 50
- p.Val187= Single submitter hereditary spastic paraplegia 50
- p.Val192= Single submitter hereditary spastic paraplegia 50
- p.Val197= Single submitter hereditary spastic paraplegia 50
- p.Val281= Single submitter hereditary spastic paraplegia 50
- p.Val330= Single submitter hereditary spastic paraplegia 50
- p.Val450= Single submitter hereditary spastic paraplegia 50
- p.Asn185= No assertion criteria AP4M1-related disorder
- p.Gly371= No assertion criteria AP4M1-related disorder
- p.Leu347= No assertion criteria AP4M1-related disorder
Uncertain significance 185
- c.1137+6C>T Multiple submitters hereditary spastic paraplegia 50
- c.673+6G>A Multiple submitters Inborn genetic diseases
- c.673+7C>T Multiple submitters hereditary spastic paraplegia 50
- c.*124G>A Multiple submitters hereditary spastic paraplegia
- c.*449G>A Multiple submitters Inborn genetic diseases ⚠
- p.Ala360Asp Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Ala397Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg172Cys Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Arg172His Multiple submitters Inborn genetic diseases ⚠
- p.Arg215Trp Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Arg227Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg268Gln Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Arg271Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg283Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg297Gln Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Arg338Gln Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Arg367Gln Multiple submitters hereditary spastic paraplegia ⚠
- p.Arg367Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg413Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg413Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg422Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg452Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg452Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg54His Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Asp251Asn Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Asp288Asn Multiple submitters hereditary spastic paraplegia ⚠
- p.Asp43Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln4His Multiple submitters Inborn genetic diseases ⚠
- p.Glu410Lys Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Gly153Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly392Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly432Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile453Val Multiple submitters hereditary spastic paraplegia ⚠
- p.Ile57Val Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Leu261Val Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Leu82Val Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Pro166Ser Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Pro293Leu Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Pro399Ser Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Pro46Ala Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Pro46Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser171Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser204Phe Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Ser287Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser396Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser9Phe Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Ter454Arg Multiple submitters hereditary spastic paraplegia 50
- p.Thr127Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr449Cys Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Val208Met Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Val29Met Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Val330Leu Multiple submitters hereditary spastic paraplegia 50 ⚠
- p.Val440Leu Multiple submitters hereditary spastic paraplegia 50 ⚠
- c.1025+2dup Single submitter
- c.1025+6T>G Single submitter hereditary spastic paraplegia 50
- c.255-4T>C Single submitter hereditary spastic paraplegia
- c.351+5G>A Single submitter hereditary spastic paraplegia 50
- c.544-8_544-3del Single submitter
- c.58+3A>G Single submitter
- c.974+115dup Single submitter hereditary spastic paraplegia 50
- c.975-14C>A Single submitter hereditary spastic paraplegia 50
- c.975-25_975-22del Single submitter hereditary spastic paraplegia 50
- c.975-6C>G Single submitter hereditary spastic paraplegia
- p.Ala354Pro Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ala357Ser Single submitter ⚠
- p.Arg104Cys Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg178Cys Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg178Leu Single submitter Inborn genetic diseases ⚠
- p.Arg249Gln Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg271Pro Single submitter Inborn genetic diseases ⚠
- p.Arg283Gln Single submitter Inborn genetic diseases ⚠
- p.Arg297Trp Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg35Leu Single submitter Inborn genetic diseases ⚠
- p.Arg362Cys Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg362His Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg413Gly Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg413Pro Single submitter ⚠
- p.Arg441Gln Single submitter hereditary spastic paraplegia 50 ⚠
- p.Arg60Thr Single submitter Inborn genetic diseases ⚠
- p.Asp114Glu Single submitter hereditary spastic paraplegia 50 ⚠
- p.Asp19= Single submitter AP4M1-related disorder
- p.Asp19Asn Single submitter hereditary spastic paraplegia 50 ⚠
- p.Asp251Gly Single submitter hereditary spastic paraplegia ⚠
- p.Asp288His Single submitter hereditary spastic paraplegia 50 ⚠
- p.Asp289Gly Single submitter hereditary spastic paraplegia 50 ⚠
- p.Asp320Asn Single submitter hereditary spastic paraplegia 50 ⚠
- p.Asp447Glu Single submitter Inborn genetic diseases ⚠
- p.Gln420Arg Single submitter ⚠
- p.Gln420Leu Single submitter hereditary spastic paraplegia 50 ⚠
- p.Glu111Gln Single submitter hereditary spastic paraplegia 50 ⚠
- p.Glu111Lys Single submitter hereditary spastic paraplegia 50 ⚠
- p.Glu128Lys Single submitter Inborn genetic diseases ⚠
- p.Glu158Gln Single submitter Inborn genetic diseases ⚠
- p.Glu213Gln Single submitter hereditary spastic paraplegia 50 ⚠
- p.Glu31Val Single submitter hereditary spastic paraplegia 50 ⚠
- p.Gly100Val Single submitter hereditary spastic paraplegia 50 ⚠
- p.Gly120Val Single submitter ⚠
- p.Gly22Arg Single submitter ⚠
- p.Gly26Asp Single submitter Inborn genetic diseases ⚠
- p.Gly277Ser Single submitter Inborn genetic diseases ⚠
- p.Gly307Ala Single submitter hereditary spastic paraplegia 50 ⚠
- p.Gly339Arg Single submitter hereditary spastic paraplegia 50 ⚠
- p.Gly339Glu Single submitter Inborn genetic diseases ⚠
- p.Gly359Arg Single submitter hereditary spastic paraplegia 50 ⚠
- p.Gly384Arg Single submitter Inborn genetic diseases ⚠
- p.Gly387Glu Single submitter hereditary spastic paraplegia 50 ⚠
- p.Gly392= Single submitter hereditary spastic paraplegia 50
- p.Gly53Ser Single submitter Inborn genetic diseases ⚠
- p.Gly63Ala Single submitter hereditary spastic paraplegia 50 ⚠
- p.His414Gln Single submitter hereditary spastic paraplegia 50 ⚠
- p.His437Gln Single submitter hereditary spastic paraplegia 50 ⚠
- p.His442Gln Single submitter Inborn genetic diseases ⚠
- p.His52Arg Single submitter hereditary spastic paraplegia 50 ⚠
- p.His55Tyr Single submitter hereditary spastic paraplegia 50 ⚠
- p.His58Arg Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ile102Asn Single submitter Inborn genetic diseases ⚠
- p.Ile102Phe Single submitter Inborn genetic diseases ⚠
- p.Ile16Phe Single submitter Inborn genetic diseases ⚠
- p.Ile248Val Single submitter Inborn genetic diseases ⚠
- p.Ile59Val Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ile7Leu Single submitter Inborn genetic diseases ⚠
- p.Ile7Val Single submitter Inborn genetic diseases ⚠
- p.Leu113del Single submitter hereditary spastic paraplegia 50
- p.Leu15Phe Single submitter Inborn genetic diseases ⚠
- p.Leu189Trp Single submitter hereditary spastic paraplegia 50 ⚠
- p.Leu195Ser Single submitter Inborn genetic diseases ⚠
- p.Leu270Pro Single submitter hereditary spastic paraplegia 50 ⚠
- p.Leu332Val Single submitter hereditary spastic paraplegia 50 ⚠
- p.Leu374Phe Single submitter hereditary spastic paraplegia 50 ⚠
- p.Leu424Phe Single submitter AP-4 deficiency syndrome ⚠
- p.Leu66Phe Single submitter Inborn genetic diseases ⚠
- p.Leu8Val Single submitter Inborn genetic diseases ⚠
- p.Leu97Val Single submitter hereditary spastic paraplegia 50 ⚠
- p.Lys11Gln Single submitter Inborn genetic diseases ⚠
- p.Lys353Arg Single submitter hereditary spastic paraplegia 50 ⚠
- p.Met129Val Single submitter ⚠
- p.Met1Ile Single submitter hereditary spastic paraplegia 50
- p.Met226Ile Single submitter Inborn genetic diseases ⚠
- p.Met226Thr Single submitter Inborn genetic diseases ⚠
- p.Met49Lys Single submitter hereditary spastic paraplegia ⚠
- p.Phe264Leu Single submitter hereditary spastic paraplegia ⚠
- p.Phe409Ser Single submitter hereditary spastic paraplegia 50 ⚠
- p.Phe428Leu Single submitter hereditary spastic paraplegia 50 ⚠
- p.Pro143Leu Single submitter Inborn genetic diseases ⚠
- p.Pro221Ser Single submitter Inborn genetic diseases ⚠
- p.Pro274Arg Single submitter Inborn genetic diseases ⚠
- p.Pro291His Single submitter hereditary spastic paraplegia 50 ⚠
- p.Pro337Leu Single submitter Inborn genetic diseases ⚠
- p.Pro383Arg Single submitter intellectual disability ⚠
- p.Pro389_Ser390insGlyProPro Single submitter
- p.Pro404Ser Single submitter Inborn genetic diseases ⚠
- p.Pro430Ser Single submitter Inborn genetic diseases ⚠
- p.Pro76Ser Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ser10Phe Single submitter Inborn genetic diseases ⚠
- p.Ser126Pro Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ser151Asn Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ser168Arg Single submitter ⚠
- p.Ser168Asn Single submitter Inborn genetic diseases ⚠
- p.Ser201_Asn202insValLeuIleAlaSer Single submitter AP-4 deficiency syndrome
- p.Ser201Pro Single submitter Inborn genetic diseases ⚠
- p.Ser254= Single submitter
- p.Ser254Leu Single submitter Inborn genetic diseases ⚠
- p.Ser266Cys Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ser308Leu Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ser325Arg Single submitter Inborn genetic diseases ⚠
- p.Ser342= Single submitter hereditary spastic paraplegia 50
- p.Ser394Phe Single submitter Inborn genetic diseases ⚠
- p.Ser446Gly Single submitter hereditary spastic paraplegia 50 ⚠
- p.Ser62Arg Single submitter Inborn genetic diseases ⚠
- p.Thr159Ile Single submitter hereditary spastic paraplegia 50 ⚠
- p.Thr280Ile Single submitter hereditary spastic paraplegia 50 ⚠
- p.Thr38Met Single submitter hereditary spastic paraplegia 50 ⚠
- p.Thr415Met Single submitter Inborn genetic diseases ⚠
- p.Thr69Pro Single submitter ⚠
- p.Trp363Arg Single submitter ⚠
- p.Tyr121Cys Single submitter hereditary spastic paraplegia 50 ⚠
- p.Tyr93= Single submitter
- p.Val122Ile Single submitter hereditary spastic paraplegia 50 ⚠
- p.Val152Ile Single submitter hereditary spastic paraplegia 50 ⚠
- p.Val164Met Single submitter Inborn genetic diseases ⚠
- p.Val236Ala Single submitter hereditary spastic paraplegia 50 ⚠
- p.Val236Leu Single submitter hereditary spastic paraplegia 50 ⚠
- p.Val29Ala Single submitter Inborn genetic diseases ⚠
- p.Val313Leu Single submitter Inborn genetic diseases ⚠
- p.Val382Ala Single submitter Inborn genetic diseases ⚠