DDHD2 — 356 ClinVar variants
All ClinVar germline DDHD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →
18 Pathogenic · 4 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 14 Conflicting · 9 Benign · 8 Benign/Likely benign · 120 Likely benign · 167 Uncertain significance
Full DDHD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 153
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DDHD2 p.Arg242Cys
Conflicting
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Arg242His
Conflicting
Single submitter
Inborn genetic diseases
-
DDHD2 p.Gly76Cys
Conflicting
Single submitter
hereditary spastic paraplegia 54
Predictors lean, ClinVar uncertain 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DDHD2 p.Ala454Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Ala461Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Arg230Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Arg494Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Arg516Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Arg595Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Arg98Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Asn535Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Gln236Pro
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Glu468Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Gly385Glu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Lys152Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Lys599Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Met448Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Met584Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Pro210Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Ser354Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Ser377Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
DDHD2 p.Ser593Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Ser612Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Thr332Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Thr625Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Val203Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Val483Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Val543Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Val694Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Arg112Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
- DDHD2 p.Arg190Gly Uncertain significance Single submitter
- DDHD2 p.Arg295His Uncertain significance Single submitter
-
DDHD2 p.Arg434Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Arg570Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Asn123Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Asn21Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Asn301Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Asn477His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Asp104Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Asp120Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Asp32Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Asp366Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DDHD2 p.Asp370Asn Uncertain significance Single submitter
-
DDHD2 p.Asp383Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Asp386Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia
- DDHD2 p.Asp90Asn Uncertain significance Single submitter
-
DDHD2 p.Cys113Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Cys113Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Cys419Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Gln10His
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Gln10Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Gln711Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Glu159Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Gly182Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Gly343Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Gly449Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Gly510Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.His221Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.His538Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.His565Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Ile205Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Ile347Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ile356Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ile356Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ile463Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ile668Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Leu438Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Leu591Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Lys167Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Lys435Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Lys435Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Lys531Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DDHD2 p.Lys642Glu Uncertain significance Single submitter
- DDHD2 p.Met584Thr Uncertain significance Single submitter
-
DDHD2 p.Met596Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Phe502Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Phe505Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Pro127His
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Pro16Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Pro18Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Pro18Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Pro20Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Pro493Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
- DDHD2 p.Pro563Ser Uncertain significance Single submitter
-
DDHD2 p.Ser274Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ser35Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ser35Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Ser489Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Thr387Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Thr475Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Thr475Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Thr637Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
- DDHD2 p.Trp56Arg Uncertain significance Single submitter
-
DDHD2 p.Tyr102His
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Tyr310Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
DDHD2 p.Tyr525Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
DDHD2 p.Tyr545Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Tyr699Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Val551Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Val691Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Val81Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Val82Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 51
The independent predictors disagree with each other — read with care.
-
DDHD2 p.Arg232Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Arg329Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Arg595Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Cys47Gly
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Gln364Glu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Gly344Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Gly449Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Ile509Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Lys436Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Met550Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Met582Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Pro156Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Ser472Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Thr332Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Tyr99Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 54
-
DDHD2 p.Val170Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDHD2 p.Ala143Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ala417Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Arg190Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Arg230His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Arg494Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Asn157Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Asn311Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Asp522Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Asp85Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Gln236Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Glu38Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Glu414Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Glu500Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Glu558Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Glu635Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
DDHD2 p.Glu673Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Gly189Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Gly94Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ile213Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ile223Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Leu390Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Leu93Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Lys124Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Lys150Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Pro313Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Pro39Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Pro493Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ser129Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Ser129Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Ser131Arg
Conflicting
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Thr300Ile
Conflicting
Single submitter
hereditary spastic paraplegia 54
-
DDHD2 p.Thr529Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Thr634Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDHD2 p.Tyr661Cys
Conflicting
Single submitter
Inborn genetic diseases
- DDHD2 p.Val170Leu Uncertain significance Single submitter
All DDHD2 variants
Pathogenic 18
- p.Arg232Ter Multiple submitters hereditary spastic paraplegia 54
- p.Arg329Ter Multiple submitters hereditary spastic paraplegia 54
- p.Arg516Ter Multiple submitters hereditary spastic paraplegia 54
- p.Tyr140Ter Multiple submitters hereditary spastic paraplegia 54
- p.Arg112Ter Single submitter hereditary spastic paraplegia 54
- p.Gln66Ter Single submitter hereditary spastic paraplegia 54
- p.Glu414fs Single submitter hereditary spastic paraplegia 54
- p.Gly510Glu Single submitter hereditary spastic paraplegia 54
- p.His273fs Single submitter hereditary spastic paraplegia 54
- p.Ile463fs Single submitter hereditary spastic paraplegia 54
- p.Lys152fs Single submitter hereditary spastic paraplegia 54
- p.Phe601fs Single submitter hereditary spastic paraplegia 54
- p.Ser35fs Single submitter
- p.Ser626Ter Single submitter Inborn genetic diseases
- p.Trp115Ter Single submitter hereditary spastic paraplegia 54
- p.Trp272Ter Single submitter hereditary spastic paraplegia 54
- p.Glu686fs No assertion criteria hereditary spastic paraplegia 54
- p.Thr602fs No assertion criteria hereditary spastic paraplegia 54
Pathogenic/Likely pathogenic 4
- p.Asp660His Multiple submitters Inborn genetic diseases
- p.Gln286Ter Multiple submitters hereditary spastic paraplegia 54
- p.Lys124fs Multiple submitters hereditary spastic paraplegia 54
- p.Arg287Ter No assertion criteria hereditary spastic paraplegia 54
Likely pathogenic 16
- c.1126-2A>G Multiple submitters hereditary spastic paraplegia 54
- c.1248+2T>C Multiple submitters hereditary spastic paraplegia 54
- p.Thr634delinsIleCysGlySerTer Multiple submitters hereditary spastic paraplegia 54
- c.1611_1617+4dup Single submitter
- c.1617+1G>T Single submitter hereditary spastic paraplegia 54
- c.1720+1G>A Single submitter
- p.Arg111fs Single submitter
- p.Arg422Ter Single submitter
- p.Asp631Ter Single submitter hereditary spastic paraplegia 54
- p.Gln134Ter Single submitter
- p.Gln173Ter Single submitter
- p.Glu466Ter Single submitter hereditary spastic paraplegia 54
- p.Gly344fs Single submitter hereditary spastic paraplegia 54
- p.Ile405_Phe406insTer Single submitter hereditary spastic paraplegia 54
- p.Tyr661fs Single submitter hereditary spastic paraplegia 54
- c.1249_1891del No assertion criteria hereditary spastic paraplegia
Conflicting classifications of pathogenicity 14
- c.1057+5C>G Single submitter hereditary spastic paraplegia 54
- p.Arg190Ter Single submitter hereditary spastic paraplegia 54
- p.Arg242Cys Single submitter hereditary spastic paraplegia 54 ⚠
- p.Arg242His Single submitter Inborn genetic diseases ⚠
- p.Arg337= Single submitter hereditary spastic paraplegia
- p.Asn462= Single submitter hereditary spastic paraplegia 54
- p.Gly76Cys Single submitter hereditary spastic paraplegia 54 ⚠
- p.Gly76Tyr Single submitter hereditary spastic paraplegia 54
- p.Leu93= Single submitter hereditary spastic paraplegia 54
- p.Ser131Arg Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ser233= Single submitter hereditary spastic paraplegia 54
- p.Thr300Ile Single submitter hereditary spastic paraplegia 54 ⚠
- p.Tyr525= Single submitter hereditary spastic paraplegia 54
- p.Tyr661Cys Single submitter Inborn genetic diseases ⚠
Benign 9
- c.1618-25T>C Multiple submitters
- c.849-21T>A Multiple submitters
- p.Thr186Met Multiple submitters hereditary spastic paraplegia 54
- c.1057+9dup Single submitter hereditary spastic paraplegia 54
- c.1125+263T>C Single submitter
- c.1249-235dup Single submitter
- c.411+201dup Single submitter
- c.411+21_411+22del Single submitter hereditary spastic paraplegia 54
- p.Ile450Val Single submitter hereditary spastic paraplegia 54
Benign/Likely benign 8
- p.Asp376Gly Multiple submitters hereditary spastic paraplegia
- p.Cys683Ser Multiple submitters hereditary spastic paraplegia 54
- p.Gln7= Multiple submitters hereditary spastic paraplegia 54
- p.Gly76Asp Multiple submitters Inborn genetic diseases
- p.Ile304= Multiple submitters hereditary spastic paraplegia 54
- p.Leu390= Multiple submitters hereditary spastic paraplegia 54
- p.Thr529= Multiple submitters hereditary spastic paraplegia 54
- p.Tyr125= Multiple submitters hereditary spastic paraplegia 54
Likely benign 120
- c.1058-13A>G Multiple submitters hereditary spastic paraplegia 54
- c.1125+20A>C Multiple submitters hereditary spastic paraplegia 54
- c.1126-146C>T Multiple submitters
- c.1720+9G>A Multiple submitters hereditary spastic paraplegia 54
- c.220+34A>G Multiple submitters
- c.622+12C>T Multiple submitters hereditary spastic paraplegia 54
- p.Ile288= Multiple submitters hereditary spastic paraplegia 54
- p.Thr186= Multiple submitters hereditary spastic paraplegia 54
- p.Tyr310= Multiple submitters hereditary spastic paraplegia 54
- c.1057+18G>A Single submitter hereditary spastic paraplegia 54
- c.1058-16_1058-14del Single submitter hereditary spastic paraplegia 54
- c.1058-17T>C Single submitter hereditary spastic paraplegia 54
- c.1125+20A>G Single submitter hereditary spastic paraplegia 54
- c.1126-13A>G Single submitter hereditary spastic paraplegia 54
- c.1249-16G>A Single submitter hereditary spastic paraplegia 54
- c.1249-20A>G Single submitter hereditary spastic paraplegia 54
- c.1249-235del Single submitter
- c.1344+15C>T Single submitter hereditary spastic paraplegia 54
- c.1345-18C>T Single submitter hereditary spastic paraplegia 54
- c.1462-10C>T Single submitter hereditary spastic paraplegia 54
- c.1462-19T>C Single submitter hereditary spastic paraplegia 54
- c.1462-7del Single submitter hereditary spastic paraplegia 54
- c.1617+6C>T Single submitter
- c.1618-11T>C Single submitter hereditary spastic paraplegia 54
- c.1618-63del Single submitter
- c.1618-63dup Single submitter
- c.1618-6A>G Single submitter hereditary spastic paraplegia 54
- c.1618-6A>T Single submitter hereditary spastic paraplegia 54
- c.1618-81C>A Single submitter
- c.1618-8C>G Single submitter hereditary spastic paraplegia 54
- c.1618-9C>T Single submitter hereditary spastic paraplegia 54
- c.1720+18A>C Single submitter hereditary spastic paraplegia 54
- c.1720+18A>G Single submitter hereditary spastic paraplegia 54
- c.1721-11A>G Single submitter hereditary spastic paraplegia 54
- c.1721-9A>G Single submitter hereditary spastic paraplegia 54
- c.1891+19A>G Single submitter hereditary spastic paraplegia 54
- c.1891+20T>C Single submitter hereditary spastic paraplegia 54
- c.1892-127T>C Single submitter
- c.1892-16G>T Single submitter hereditary spastic paraplegia 54
- c.2054+10_2054+12del Single submitter hereditary spastic paraplegia 54
- c.2054+13del Single submitter hereditary spastic paraplegia 54
- c.2054+13T>C Single submitter
- c.2055-17A>T Single submitter hereditary spastic paraplegia 54
- c.2055-5T>C Single submitter hereditary spastic paraplegia 54
- c.2055-6_2055-5del Single submitter hereditary spastic paraplegia 54
- c.220+18C>T Single submitter hereditary spastic paraplegia 54
- c.220+20T>G Single submitter hereditary spastic paraplegia 54
- c.221-19C>T Single submitter hereditary spastic paraplegia 54
- c.221-9C>T Single submitter hereditary spastic paraplegia 54
- c.411+200_411+201dup Single submitter
- c.412-11T>G Single submitter hereditary spastic paraplegia 54
- c.412-8C>G Single submitter hereditary spastic paraplegia 54
- c.501+172C>T Single submitter
- c.502-19C>A Single submitter hereditary spastic paraplegia 54
- c.502-7G>T Single submitter hereditary spastic paraplegia 54
- c.502-9C>T Single submitter hereditary spastic paraplegia 54
- c.622+13G>A Single submitter hereditary spastic paraplegia 54
- c.622+260T>A Single submitter
- c.623-262G>A Single submitter
- c.623-57A>T Single submitter
- c.849-16T>C Single submitter hereditary spastic paraplegia 54
- c.849-18T>C Single submitter hereditary spastic paraplegia 54
- c.849-20A>C Single submitter hereditary spastic paraplegia 54
- c.*26+201G>C Single submitter
- c.*28C>T Single submitter
- p.Ala107= Single submitter hereditary spastic paraplegia 54
- p.Ala454= Single submitter hereditary spastic paraplegia 54
- p.Arg112Gln Single submitter hereditary spastic paraplegia 54
- p.Arg196= Single submitter hereditary spastic paraplegia 54
- p.Arg297= Single submitter
- p.Arg595= Single submitter hereditary spastic paraplegia 54
- p.Asn439= Single submitter hereditary spastic paraplegia 54
- p.Asp180= Single submitter hereditary spastic paraplegia 54
- p.Asp204= Single submitter hereditary spastic paraplegia 54
- p.Gln708= Single submitter hereditary spastic paraplegia 54
- p.Glu130= Single submitter hereditary spastic paraplegia 54
- p.Glu392= Single submitter hereditary spastic paraplegia 54
- p.Glu468= Single submitter hereditary spastic paraplegia 54
- p.Glu623= Single submitter hereditary spastic paraplegia 54
- p.Gly385= Single submitter hereditary spastic paraplegia 54
- p.Gly449= Single submitter hereditary spastic paraplegia 54
- p.Gly506= Single submitter hereditary spastic paraplegia 54
- p.Gly554= Single submitter hereditary spastic paraplegia 54
- p.His206= Single submitter hereditary spastic paraplegia 54
- p.His252= Single submitter
- p.His350= Single submitter
- p.Ile485= Single submitter hereditary spastic paraplegia 54
- p.Ile668= Single submitter hereditary spastic paraplegia 54
- p.Leu290= Single submitter hereditary spastic paraplegia 54
- p.Leu518= Single submitter hereditary spastic paraplegia 54
- p.Leu590= Single submitter hereditary spastic paraplegia 54
- p.Leu591= Single submitter hereditary spastic paraplegia 54
- p.Leu646= Single submitter hereditary spastic paraplegia 54
- p.Leu693= Single submitter hereditary spastic paraplegia 54
- p.Lys151= Single submitter hereditary spastic paraplegia 54
- p.Lys365= Single submitter hereditary spastic paraplegia 54
- p.Lys396= Single submitter
- p.Lys435= Single submitter hereditary spastic paraplegia 54
- p.Phe341= Single submitter hereditary spastic paraplegia 54
- p.Phe441= Single submitter
- p.Phe557= Single submitter hereditary spastic paraplegia 54
- p.Pro275= Single submitter hereditary spastic paraplegia 54
- p.Pro433= Single submitter hereditary spastic paraplegia 54
- p.Pro455= Single submitter hereditary spastic paraplegia 54
- p.Pro455Leu Single submitter Inborn genetic diseases
- p.Pro563= Single submitter hereditary spastic paraplegia 54
- p.Ser292= Single submitter hereditary spastic paraplegia 54
- p.Ser377= Single submitter hereditary spastic paraplegia 54
- p.Ser593= Single submitter hereditary spastic paraplegia 54
- p.Thr114= Single submitter hereditary spastic paraplegia 54
- p.Thr322= Single submitter hereditary spastic paraplegia 54
- p.Thr332= Single submitter hereditary spastic paraplegia 54
- p.Thr389= Single submitter hereditary spastic paraplegia 54
- p.Thr618= Single submitter
- p.Thr690= Single submitter hereditary spastic paraplegia 54
- p.Thr701= Single submitter hereditary spastic paraplegia 54
- p.Tyr492= Single submitter
- p.Tyr89= Single submitter hereditary spastic paraplegia 54
- p.Val265= Single submitter
- p.Val641= Single submitter hereditary spastic paraplegia 54
Uncertain significance 167
- c.1720+6T>A Multiple submitters hereditary spastic paraplegia 54
- c.411+6C>T Multiple submitters hereditary spastic paraplegia 54
- p.Ala454Asp Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Ala461Val Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Arg230Cys Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Arg232Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg329Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg494Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg516Gln Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Arg595Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg595Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg98Trp Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Asn535Ser Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Cys47Gly Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Gln236Pro Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Gln364Glu Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Glu468Lys Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Gly344Asp Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Gly385Glu Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Gly449Cys Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Ile509Thr Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Lys152Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys436Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys599Arg Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Met448Val Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Met550Val Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Met582Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met584Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro156Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro210Thr Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Ser354Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser377Leu Multiple submitters hereditary spastic paraplegia ⚠
- p.Ser472Ile Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Ser593Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser612Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr332Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr332Ile Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Thr625Pro Multiple submitters Inborn genetic diseases ⚠
- p.Tyr99Ser Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Val170Met Multiple submitters Inborn genetic diseases ⚠
- p.Val203Ala Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Val483Ala Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Val543Met Multiple submitters hereditary spastic paraplegia 54 ⚠
- p.Val694Ile Multiple submitters hereditary spastic paraplegia 54 ⚠
- c.1344+4T>C Single submitter
- c.1345-3T>C Single submitter hereditary spastic paraplegia 54
- c.1461+5C>G Single submitter hereditary spastic paraplegia 54
- c.1461+6T>C Single submitter hereditary spastic paraplegia 54
- c.1891+2dup Single submitter Senior-Loken syndrome 6
- c.1891+5G>A Single submitter
- c.2055-2A>G Single submitter hereditary spastic paraplegia 54
- c.221-1_224del Single submitter hereditary spastic paraplegia 54
- c.221-11A>G Single submitter
- c.411+4T>C Single submitter hereditary spastic paraplegia 54
- c.712+5G>A Single submitter hereditary spastic paraplegia 54
- p.Ala143Val Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ala417Asp Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ala454_Pro455del Single submitter hereditary spastic paraplegia 54
- p.Arg112Leu Single submitter hereditary spastic paraplegia 54 ⚠
- p.Arg190Gln Single submitter Inborn genetic diseases ⚠
- p.Arg190Gly Single submitter ⚠
- p.Arg230His Single submitter Inborn genetic diseases ⚠
- p.Arg295His Single submitter ⚠
- p.Arg434Gly Single submitter Inborn genetic diseases ⚠
- p.Arg494Trp Single submitter Inborn genetic diseases ⚠
- p.Arg570Gln Single submitter Inborn genetic diseases ⚠
- p.Asn123Ser Single submitter hereditary spastic paraplegia 54 ⚠
- p.Asn157Lys Single submitter hereditary spastic paraplegia 54 ⚠
- p.Asn21Asp Single submitter Inborn genetic diseases ⚠
- p.Asn301Ser Single submitter hereditary spastic paraplegia 54 ⚠
- p.Asn311Asp Single submitter hereditary spastic paraplegia 54 ⚠
- p.Asn477His Single submitter Inborn genetic diseases ⚠
- p.Asp104Glu Single submitter hereditary spastic paraplegia 54 ⚠
- p.Asp120Glu Single submitter Inborn genetic diseases ⚠
- p.Asp32Val Single submitter Inborn genetic diseases ⚠
- p.Asp366Ala Single submitter Inborn genetic diseases ⚠
- p.Asp370Asn Single submitter ⚠
- p.Asp383Val Single submitter Inborn genetic diseases ⚠
- p.Asp386Ala Single submitter hereditary spastic paraplegia ⚠
- p.Asp522Asn Single submitter Inborn genetic diseases ⚠
- p.Asp85Ala Single submitter Inborn genetic diseases ⚠
- p.Asp90Asn Single submitter ⚠
- p.Cys113Arg Single submitter Inborn genetic diseases ⚠
- p.Cys113Phe Single submitter hereditary spastic paraplegia 54 ⚠
- p.Cys419Arg Single submitter Inborn genetic diseases ⚠
- p.Gln10His Single submitter hereditary spastic paraplegia 54 ⚠
- p.Gln10Lys Single submitter Inborn genetic diseases ⚠
- p.Gln236Arg Single submitter Inborn genetic diseases ⚠
- p.Gln711Leu Single submitter Inborn genetic diseases ⚠
- p.Glu159Lys Single submitter hereditary spastic paraplegia 54 ⚠
- p.Glu38Ala Single submitter Inborn genetic diseases ⚠
- p.Glu414Lys Single submitter Inborn genetic diseases ⚠
- p.Glu500Gly Single submitter hereditary spastic paraplegia 54 ⚠
- p.Glu558Gly Single submitter hereditary spastic paraplegia 54 ⚠
- p.Glu635Lys Single submitter hereditary spastic paraplegia ⚠
- p.Glu644del Single submitter hereditary spastic paraplegia 54
- p.Glu673Asp Single submitter hereditary spastic paraplegia 54 ⚠
- p.Gly182Ala Single submitter Inborn genetic diseases ⚠
- p.Gly189Val Single submitter hereditary spastic paraplegia 54 ⚠
- p.Gly343Ala Single submitter Inborn genetic diseases ⚠
- p.Gly449Val Single submitter Inborn genetic diseases ⚠
- p.Gly510Arg Single submitter hereditary spastic paraplegia 54 ⚠
- p.Gly94Trp Single submitter hereditary spastic paraplegia 54 ⚠
- p.His221Arg Single submitter hereditary spastic paraplegia 54 ⚠
- p.His538Gln Single submitter Inborn genetic diseases ⚠
- p.His565Arg Single submitter Inborn genetic diseases ⚠
- p.Ile162del Single submitter hereditary spastic paraplegia 54
- p.Ile205Val Single submitter Inborn genetic diseases ⚠
- p.Ile213Thr Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ile223Val Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ile347Val Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ile356Arg Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ile356Thr Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ile405= Single submitter
- p.Ile463Val Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ile668Leu Single submitter Inborn genetic diseases ⚠
- p.Leu390Ile Single submitter hereditary spastic paraplegia 54 ⚠
- p.Leu438Ile Single submitter Inborn genetic diseases ⚠
- p.Leu591Ile Single submitter hereditary spastic paraplegia 54 ⚠
- p.Leu93Phe Single submitter hereditary spastic paraplegia 54 ⚠
- p.Lys124Glu Single submitter hereditary spastic paraplegia 54 ⚠
- p.Lys150Glu Single submitter Inborn genetic diseases ⚠
- p.Lys167Glu Single submitter Inborn genetic diseases ⚠
- p.Lys435Arg Single submitter Inborn genetic diseases ⚠
- p.Lys435Asn Single submitter hereditary spastic paraplegia 54 ⚠
- p.Lys531Arg Single submitter Inborn genetic diseases ⚠
- p.Lys642Glu Single submitter ⚠
- p.Met584Thr Single submitter ⚠
- p.Met596Leu Single submitter Inborn genetic diseases ⚠
- p.Phe502Leu Single submitter Inborn genetic diseases ⚠
- p.Phe505Cys Single submitter hereditary spastic paraplegia 54 ⚠
- p.Pro127= Single submitter hereditary spastic paraplegia
- p.Pro127His Single submitter hereditary spastic paraplegia 54 ⚠
- p.Pro16Thr Single submitter Inborn genetic diseases ⚠
- p.Pro18Ala Single submitter Inborn genetic diseases ⚠
- p.Pro18Leu Single submitter Inborn genetic diseases ⚠
- p.Pro20Ser Single submitter hereditary spastic paraplegia 54 ⚠
- p.Pro313Ser Single submitter Inborn genetic diseases ⚠
- p.Pro39Leu Single submitter Inborn genetic diseases ⚠
- p.Pro493Arg Single submitter hereditary spastic paraplegia 54 ⚠
- p.Pro493Ser Single submitter hereditary spastic paraplegia 54 ⚠
- p.Pro563Ser Single submitter ⚠
- p.Ser129= Single submitter
- p.Ser129Ala Single submitter Inborn genetic diseases ⚠
- p.Ser129Leu Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ser274Gly Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ser35Arg Single submitter hereditary spastic paraplegia 54 ⚠
- p.Ser35Gly Single submitter Inborn genetic diseases ⚠
- p.Ser489Phe Single submitter Inborn genetic diseases ⚠
- p.Thr186Val Single submitter hereditary spastic paraplegia 54
- p.Thr387Ala Single submitter hereditary spastic paraplegia 54 ⚠
- p.Thr475Ile Single submitter hereditary spastic paraplegia 54 ⚠
- p.Thr475Pro Single submitter Inborn genetic diseases ⚠
- p.Thr529Met Single submitter Inborn genetic diseases ⚠
- p.Thr634Ile Single submitter Inborn genetic diseases ⚠
- p.Thr637Ile Single submitter hereditary spastic paraplegia 54 ⚠
- p.Trp56Arg Single submitter ⚠
- p.Tyr102His Single submitter hereditary spastic paraplegia 54 ⚠
- p.Tyr310Cys Single submitter hereditary spastic paraplegia ⚠
- p.Tyr525Cys Single submitter hereditary spastic paraplegia ⚠
- p.Tyr545Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr699Cys Single submitter hereditary spastic paraplegia 54 ⚠
- p.Val170Leu Single submitter ⚠
- p.Val551Leu Single submitter hereditary spastic paraplegia 54 ⚠
- p.Val691Ala Single submitter hereditary spastic paraplegia 54 ⚠
- p.Val81Ile Single submitter hereditary spastic paraplegia 54 ⚠
- p.Val82Ile Single submitter Inborn genetic diseases ⚠