Sugi Variant

Sugi Variant/DDHD1

DDHD1 — 565 ClinVar variants

All ClinVar germline DDHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 257 flagged for review →

25 Pathogenic · 5 Likely pathogenic · 12 Conflicting · 44 Benign · 11 Benign/Likely benign · 186 Likely benign · 282 Uncertain significance

Full DDHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 257

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.

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 210

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 210

Predictors split 41

The independent predictors disagree with each other — read with care.

All DDHD1 variants

Pathogenic 25

  • p.Gly133fs Multiple submitters hereditary spastic paraplegia 28
  • p.Ala153fs Single submitter
  • p.Arg477Ter Single submitter
  • p.Arg577Ter Single submitter hereditary spastic paraplegia 28
  • p.Asn2fs Single submitter hereditary spastic paraplegia 28
  • p.Asn324fs Single submitter hereditary spastic paraplegia 28
  • p.Cys235fs Single submitter hereditary spastic paraplegia 28
  • p.Cys83fs Single submitter hereditary spastic paraplegia 28
  • p.Glu62fs Single submitter hereditary spastic paraplegia 28
  • p.Glu87Ter Single submitter hereditary spastic paraplegia 28
  • p.His155fs Single submitter hereditary spastic paraplegia 28
  • p.His244fs Single submitter hereditary spastic paraplegia 28
  • p.Leu115fs Single submitter hereditary spastic paraplegia 28
  • p.Leu344Ter Single submitter
  • p.Met491fs Single submitter hereditary spastic paraplegia 28
  • p.Pro609fs Single submitter hereditary spastic paraplegia 28
  • p.Trp170Ter Single submitter hereditary spastic paraplegia 28
  • p.Trp457Ter Single submitter hereditary spastic paraplegia 28
  • p.Tyr666fs Single submitter hereditary spastic paraplegia 28
  • p.Val349fs Single submitter hereditary spastic paraplegia 28
  • c.2522-1G>T No assertion criteria hereditary spastic paraplegia 28
  • p.Arg589Gln No assertion criteria hereditary spastic paraplegia 28 ⚠
  • p.Gln417Ter No assertion criteria hereditary spastic paraplegia 28
  • p.Met547Ter No assertion criteria hereditary spastic paraplegia 28
  • p.Pro624_Leu625insTer No assertion criteria hereditary spastic paraplegia 28

Likely pathogenic 5

Conflicting classifications of pathogenicity 12

  • c.1142-7T>C Single submitter hereditary spastic paraplegia 28
  • p.Ala338= Single submitter hereditary spastic paraplegia 28
  • p.Asn314Ser Single submitter hereditary spastic paraplegia 28 ⚠
  • p.Asp228= Single submitter hereditary spastic paraplegia 28
  • p.Asp890Asn Single submitter hereditary spastic paraplegia ⚠
  • p.Gln320= Single submitter hereditary spastic paraplegia 28
  • p.Gly112dup Single submitter hereditary spastic paraplegia 28
  • p.Gly52= Single submitter hereditary spastic paraplegia
  • p.Gly61Arg Single submitter hereditary spastic paraplegia 28 ⚠
  • p.His803Arg Single submitter hereditary spastic paraplegia ⚠
  • p.Phe883= Single submitter hereditary spastic paraplegia 28
  • p.Thr720= Single submitter hereditary spastic paraplegia 28

Benign 44

Benign/Likely benign 11

  • c.1012+619C>A Multiple submitters hereditary spastic paraplegia 28
  • c.1397-5del Multiple submitters hereditary spastic paraplegia 28
  • c.1503+10A>T Multiple submitters hereditary spastic paraplegia 28
  • c.1993-19dup Multiple submitters hereditary spastic paraplegia 28
  • c.1993-9del Multiple submitters hereditary spastic paraplegia 28
  • p.Ala630= Multiple submitters hereditary spastic paraplegia
  • p.Asp294= Multiple submitters hereditary spastic paraplegia 28
  • p.Gln508= Multiple submitters hereditary spastic paraplegia 28
  • p.Gly109_Gly112dup Multiple submitters hereditary spastic paraplegia 28
  • p.Gly110_Gly112dup Multiple submitters hereditary spastic paraplegia 28
  • p.Thr397= Multiple submitters hereditary spastic paraplegia 28

Likely benign 186

  • c.1992+13A>G Multiple submitters hereditary spastic paraplegia 28
  • c.1993-45G>A Multiple submitters
  • c.2437+191T>C Multiple submitters
  • c.2437+7T>G Multiple submitters hereditary spastic paraplegia 28
  • c.838+14C>T Multiple submitters hereditary spastic paraplegia 28
  • p.Ala193= Multiple submitters hereditary spastic paraplegia 28
  • p.Ala68= Multiple submitters hereditary spastic paraplegia 28
  • p.Arg635= Multiple submitters hereditary spastic paraplegia 28
  • p.Glu105= Multiple submitters hereditary spastic paraplegia 28
  • p.Glu509= Multiple submitters hereditary spastic paraplegia 28
  • p.His352= Multiple submitters hereditary spastic paraplegia 28
  • p.His413= Multiple submitters hereditary spastic paraplegia 28
  • p.His598= Multiple submitters hereditary spastic paraplegia 28
  • p.His889= Multiple submitters hereditary spastic paraplegia 28
  • p.Leu163= Multiple submitters hereditary spastic paraplegia 28
  • p.Leu761= Multiple submitters hereditary spastic paraplegia 28
  • p.Lys336= Multiple submitters hereditary spastic paraplegia 28
  • p.Lys786= Multiple submitters hereditary spastic paraplegia 28
  • p.Pro4= Multiple submitters hereditary spastic paraplegia 28
  • p.Thr269= Multiple submitters hereditary spastic paraplegia 28
  • p.Thr868= Multiple submitters hereditary spastic paraplegia 28
  • p.Tyr277= Multiple submitters hereditary spastic paraplegia 28
  • c.1012+10A>G Single submitter hereditary spastic paraplegia 28
  • c.1012+118dup Single submitter
  • c.1012+17C>A Single submitter hereditary spastic paraplegia 28
  • c.1012+613A>G Single submitter hereditary spastic paraplegia 28
  • c.1012+613A>T Single submitter
  • c.1012+645C>T Single submitter hereditary spastic paraplegia 28
  • c.1012+661A>G Single submitter hereditary spastic paraplegia 28
  • c.1012+664T>C Single submitter hereditary spastic paraplegia 28
  • c.1012+665G>A Single submitter hereditary spastic paraplegia 28
  • c.1012+666T>G Single submitter hereditary spastic paraplegia 28
  • c.1012+716C>T Single submitter
  • c.1012+87_1012+89del Single submitter
  • c.1013-2702C>T Single submitter
  • c.1141+13T>C Single submitter hereditary spastic paraplegia 28
  • c.1141+14A>C Single submitter hereditary spastic paraplegia 28
  • c.1141+166_1141+167del Single submitter
  • c.1141+20A>C Single submitter hereditary spastic paraplegia 28
  • c.1289+13_1289+24del Single submitter hereditary spastic paraplegia 28
  • c.1289+19G>T Single submitter hereditary spastic paraplegia 28
  • c.1289+214G>A Single submitter
  • c.1290-13T>A Single submitter hereditary spastic paraplegia 28
  • c.1290-5T>C Single submitter hereditary spastic paraplegia 28
  • c.1396+14A>C Single submitter hereditary spastic paraplegia 28
  • c.1396+20G>T Single submitter hereditary spastic paraplegia 28
  • c.1396+85G>A Single submitter
  • c.1397-10_1397-7del Single submitter hereditary spastic paraplegia 28
  • c.1397-10G>T Single submitter hereditary spastic paraplegia 28
  • c.1397-181dup Single submitter
  • c.1397-251C>T Single submitter
  • c.1397-9T>G Single submitter hereditary spastic paraplegia 28
  • c.1503+18C>T Single submitter hereditary spastic paraplegia 28
  • c.1503+7G>C Single submitter hereditary spastic paraplegia 28
  • c.1504-279del Single submitter
  • c.1766+183C>T Single submitter
  • c.1766+9T>C Single submitter hereditary spastic paraplegia 28
  • c.1767-7T>C Single submitter hereditary spastic paraplegia 28
  • c.1767-9C>A Single submitter hereditary spastic paraplegia 28
  • c.1842+13C>T Single submitter hereditary spastic paraplegia 28
  • c.1842+84G>A Single submitter
  • c.1992+11A>G Single submitter hereditary spastic paraplegia 28
  • c.1992+25T>A Single submitter
  • c.1992+291C>T Single submitter
  • c.1992+8G>T Single submitter hereditary spastic paraplegia 28
  • c.1993-19T>A Single submitter hereditary spastic paraplegia 28
  • c.1993-20A>T Single submitter hereditary spastic paraplegia 28
  • c.1993-6dup Single submitter hereditary spastic paraplegia 28
  • c.1993-8A>T Single submitter hereditary spastic paraplegia 28
  • c.1993-9T>A Single submitter hereditary spastic paraplegia 28
  • c.2245+113G>A Single submitter
  • c.2245+284G>A Single submitter
  • c.2245+7T>G Single submitter hereditary spastic paraplegia 28
  • c.2437+10T>C Single submitter hereditary spastic paraplegia 28
  • c.2437+12C>T Single submitter hereditary spastic paraplegia 28
  • c.2437+18T>G Single submitter hereditary spastic paraplegia 28
  • c.2437+9A>C Single submitter hereditary spastic paraplegia 28
  • c.2437+9A>T Single submitter hereditary spastic paraplegia 28
  • c.2521+187T>C Single submitter
  • c.2521+210G>T Single submitter
  • c.2522-8C>G Single submitter hereditary spastic paraplegia 28
  • c.2522-8C>T Single submitter hereditary spastic paraplegia 28
  • c.838+101G>T Single submitter
  • c.838+15G>A Single submitter hereditary spastic paraplegia 28
  • c.838+16G>A Single submitter hereditary spastic paraplegia 28
  • c.838+18G>T Single submitter hereditary spastic paraplegia 28
  • c.839-13T>C Single submitter hereditary spastic paraplegia 28
  • c.839-7T>A Single submitter hereditary spastic paraplegia 28
  • c.*134A>G Single submitter
  • c.*156dup Single submitter
  • c.*16A>G Single submitter
  • p.Ala135= Single submitter hereditary spastic paraplegia 28
  • p.Ala152= Single submitter
  • p.Ala381= Single submitter hereditary spastic paraplegia 28
  • p.Ala94= Single submitter hereditary spastic paraplegia 28
  • p.Arg143= Single submitter hereditary spastic paraplegia 28
  • p.Arg147= Single submitter hereditary spastic paraplegia 28
  • p.Arg387= Single submitter hereditary spastic paraplegia 28
  • p.Arg441= Single submitter hereditary spastic paraplegia 28
  • p.Arg6= Single submitter hereditary spastic paraplegia 28
  • p.Arg815Ile Single submitter
  • p.Arg859= Single submitter hereditary spastic paraplegia 28
  • p.Asp229= Single submitter hereditary spastic paraplegia 28
  • p.Asp48= Single submitter hereditary spastic paraplegia 28
  • p.Asp53= Single submitter
  • p.Asp581= Single submitter
  • p.Asp72Glu Single submitter Inborn genetic diseases
  • p.Asp892Asn Single submitter Inborn genetic diseases
  • p.Cys235= Single submitter hereditary spastic paraplegia 28
  • p.Gln270= Single submitter hereditary spastic paraplegia 28
  • p.Gln507= Single submitter hereditary spastic paraplegia 28
  • p.Glu13= Single submitter hereditary spastic paraplegia 28
  • p.Glu167= Single submitter hereditary spastic paraplegia 28
  • p.Glu245Lys Single submitter hereditary spastic paraplegia 28
  • p.Glu272= Single submitter hereditary spastic paraplegia 28
  • p.Glu42= Single submitter hereditary spastic paraplegia 28
  • p.Glu564= Single submitter hereditary spastic paraplegia 28
  • p.Glu842= Single submitter hereditary spastic paraplegia 28
  • p.Gly112_Ser113insGlyGlyGlyGlyGly Single submitter hereditary spastic paraplegia 28
  • p.Gly141= Single submitter hereditary spastic paraplegia 28
  • p.Gly150= Single submitter hereditary spastic paraplegia 28
  • p.Gly16= Single submitter hereditary spastic paraplegia 28
  • p.Gly20= Single submitter hereditary spastic paraplegia 28
  • p.Gly243= Single submitter hereditary spastic paraplegia 28
  • p.Gly27= Single submitter hereditary spastic paraplegia 28
  • p.Gly318= Single submitter hereditary spastic paraplegia 28
  • p.Gly37= Single submitter hereditary spastic paraplegia 28
  • p.Gly37Ala Single submitter hereditary spastic paraplegia 28
  • p.Gly46= Single submitter hereditary spastic paraplegia 28
  • p.Gly754= Single submitter hereditary spastic paraplegia 28
  • p.His389= Single submitter hereditary spastic paraplegia 28
  • p.His74= Single submitter hereditary spastic paraplegia 28
  • p.Ile753= Single submitter hereditary spastic paraplegia 28
  • p.Leu100= Single submitter hereditary spastic paraplegia 28
  • p.Leu188= Single submitter hereditary spastic paraplegia 28
  • p.Leu192= Single submitter hereditary spastic paraplegia 28
  • p.Leu263= Single submitter hereditary spastic paraplegia 28
  • p.Leu44= Single submitter hereditary spastic paraplegia 28
  • p.Leu453= Single submitter hereditary spastic paraplegia 28
  • p.Leu513= Single submitter hereditary spastic paraplegia 28
  • p.Leu559= Single submitter hereditary spastic paraplegia 28
  • p.Leu566= Single submitter hereditary spastic paraplegia 28
  • p.Leu583= Single submitter
  • p.Leu597= Single submitter hereditary spastic paraplegia 28
  • p.Leu631= Single submitter hereditary spastic paraplegia 28
  • p.Leu646= Single submitter hereditary spastic paraplegia 28
  • p.Leu668= Single submitter hereditary spastic paraplegia 28
  • p.Leu757= Single submitter
  • p.Leu809= Single submitter hereditary spastic paraplegia 28
  • p.Leu851= Single submitter
  • p.Lys176= Single submitter hereditary spastic paraplegia 28
  • p.Lys674= Single submitter hereditary spastic paraplegia 28
  • p.Lys836= Single submitter
  • p.Phe316= Single submitter hereditary spastic paraplegia 28
  • p.Phe517= Single submitter hereditary spastic paraplegia 28
  • p.Phe762= Single submitter hereditary spastic paraplegia 28
  • p.Pro12= Single submitter hereditary spastic paraplegia 28
  • p.Pro127= Single submitter hereditary spastic paraplegia 28
  • p.Pro181= Single submitter hereditary spastic paraplegia 28
  • p.Pro205Leu Single submitter hereditary spastic paraplegia 28
  • p.Pro454= Single submitter hereditary spastic paraplegia 28
  • p.Pro552= Single submitter hereditary spastic paraplegia 28
  • p.Pro63= Single submitter hereditary spastic paraplegia 28
  • p.Pro69= Single submitter hereditary spastic paraplegia 28
  • p.Pro722= Single submitter hereditary spastic paraplegia 28
  • p.Ser104= Single submitter hereditary spastic paraplegia 28
  • p.Ser113= Single submitter hereditary spastic paraplegia 28
  • p.Ser187= Single submitter hereditary spastic paraplegia 28
  • p.Ser28= Single submitter hereditary spastic paraplegia 28
  • p.Ser677= Single submitter
  • p.Ser92= Single submitter hereditary spastic paraplegia 28
  • p.Thr146= Single submitter hereditary spastic paraplegia 28
  • p.Thr219= Single submitter hereditary spastic paraplegia 28
  • p.Thr241= Single submitter hereditary spastic paraplegia 28
  • p.Thr242= Single submitter
  • p.Thr373= Single submitter hereditary spastic paraplegia 28
  • p.Thr406= Single submitter hereditary spastic paraplegia 28
  • p.Thr770Ala Single submitter Inborn genetic diseases
  • p.Thr795= Single submitter hereditary spastic paraplegia 28
  • p.Tyr102= Single submitter hereditary spastic paraplegia 28
  • p.Tyr493= Single submitter hereditary spastic paraplegia 28
  • p.Val126= Single submitter hereditary spastic paraplegia 28
  • p.Val252= Single submitter hereditary spastic paraplegia 28
  • p.Val372= Single submitter hereditary spastic paraplegia 28
  • p.Val534= Single submitter
  • p.Ser114= No assertion criteria DDHD1-related disorder

Uncertain significance 282