ALDH18A1 — 855 ClinVar variants
All ClinVar germline ALDH18A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 430 flagged for review →
30 Pathogenic · 6 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 53 Conflicting · 63 Benign · 5 Benign/Likely benign · 223 Likely benign · 451 Uncertain significance
Full ALDH18A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 430
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 5
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ALDH18A1 p.Arg138Gln
Pathogenic
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg252Gln
Pathogenic
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala160Ser
Pathogenic
Single submitter
hereditary spastic paraplegia 9A
- ALDH18A1 p.Leu192Trp Likely pathogenic Single submitter
-
ALDH18A1 p.Val243Leu
Likely pathogenic
Single submitter
P5CS deficiency
Predictors agree, ClinVar conflicts 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ALDH18A1 p.Ala184Val
Conflicting
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg128His
Conflicting
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Arg425Cys
Conflicting
Single submitter
autosomal recessive complex spastic paraplegia type 9B
-
ALDH18A1 p.Arg665Gln
Conflicting
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg726His
Conflicting
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Arg84Gln
Conflicting
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Gly78Ser
Conflicting
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.His391Arg
Conflicting
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ile644Asn
Conflicting
Single submitter
autosomal recessive complex spastic paraplegia type 9B
-
ALDH18A1 p.Ile675Thr
Conflicting
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Leu418His
Conflicting
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Met369Thr
Conflicting
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ser744Trp
Conflicting
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Thr25Ala
Conflicting
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Tyr782Ser
Conflicting
Single submitter
autosomal dominant spastic paraplegia type 9
Predictors lean, ClinVar uncertain 259
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 259
-
ALDH18A1 p.Ala171Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Ala393Thr
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala444Thr
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala684Asp
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg200Cys
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg200His
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg201Gln
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Arg425Pro
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg453His
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg483His
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Arg514Gln
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg558Cys
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg55His
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg64Cys
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg726Cys
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Arg732Cys
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Arg732His
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asn329Ser
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Asn705Ser
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asp401Asn
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Asp544Gly
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Cys546Arg
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Gln4Arg
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Gln712Arg
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Glu157Gln
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Glu197Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Glu581Lys
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Glu616Asp
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Gly237Arg
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Gly306Val
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Gly439Ser
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Gly578Arg
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gly734Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.His195Arg
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.His30Tyr
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.His390Arg
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.His57Asn
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Ile241Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
ALDH18A1 p.Ile286Val
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ile343Val
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Ile473Thr Uncertain significance Multiple submitters
-
ALDH18A1 p.Ile98Thr
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Leu501Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Leu535Gln
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Leu600Val
Uncertain significance
Multiple submitters
ALDH18A1 deficiency
-
ALDH18A1 p.Lys244Arg
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Lys462Arg
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Lys596Asn
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Lys649Arg
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Met636Thr
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Pro12Ala
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Pro276Ser
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ser580Arg
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Thr50Ala
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Thr759Ile
Uncertain significance
Multiple submitters
ALDH18A1-related disorder
-
ALDH18A1 p.Val225Ile
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Val243Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Val339Ile
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Val533Gly
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val536Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Val564Ala
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val594Ile
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val639Met
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val700Phe
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Val81Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Ala171Thr
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala250Thr
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ala251Asp
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Ala251Val Uncertain significance Single submitter
-
ALDH18A1 p.Ala281Val
Uncertain significance
Single submitter
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Ala310Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDH18A1 p.Ala310Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDH18A1 p.Ala359Val
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Ala420Ser Uncertain significance Single submitter
- ALDH18A1 p.Ala491Glu Uncertain significance Single submitter
-
ALDH18A1 p.Ala492Pro
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala492Thr
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala523Pro
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ala570Ser
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala62Thr
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala646Pro
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala717Thr
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
- ALDH18A1 p.Ala737Asp Uncertain significance Single submitter
-
ALDH18A1 p.Arg126Cys
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg252Gly
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Arg28Thr Uncertain significance Single submitter
-
ALDH18A1 p.Arg371Leu
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg371Pro
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg459Gln
Uncertain significance
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Arg459Pro
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg483Cys
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg539Ser
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg558Gly
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg558His
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
- ALDH18A1 p.Arg726Leu Uncertain significance Single submitter
-
ALDH18A1 p.Arg84Pro
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg94Cys
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg94His
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asn14Ser
Uncertain significance
Single submitter
autosomal recessive complex spastic paraplegia type 9B
-
ALDH18A1 p.Asn191Thr
Uncertain significance
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Asn204Ser
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Asn214Ile Uncertain significance Single submitter
-
ALDH18A1 p.Asn232Ser
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asn239Asp
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Asn45Lys
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asn513Tyr
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asn680Ser
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Asn795Asp
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Asp267His
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asp279Gly
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asp394Asn
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asp485Gly
Uncertain significance
Single submitter
P5CS deficiency
-
ALDH18A1 p.Asp544Glu
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Asp553Ala Uncertain significance Single submitter
-
ALDH18A1 p.Asp697Val
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Asp729Gly Uncertain significance Single submitter
-
ALDH18A1 p.Asp86Asn
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Cys23Arg Uncertain significance Single submitter
-
ALDH18A1 p.Cys486Tyr
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
- ALDH18A1 p.Cys612Arg Uncertain significance Single submitter
-
ALDH18A1 p.Cys8Arg
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Cys8Ser
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gln106Pro
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gln11His
Uncertain significance
Single submitter
de Barsy syndrome
- ALDH18A1 p.Gln139Arg Uncertain significance Single submitter
-
ALDH18A1 p.Gln384Arg
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gln384Glu
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Gln489Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDH18A1 p.Gln562Arg
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gln568Arg
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gln568Leu
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Gln632Arg Uncertain significance Single submitter
-
ALDH18A1 p.Gln632Lys
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Glu100Ala
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Glu130Gly Uncertain significance Single submitter
-
ALDH18A1 p.Glu150Lys
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Glu383Gln
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Glu412Gln
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Glu413Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 9A
-
ALDH18A1 p.Glu591Asp
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Glu591Lys
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Glu607Lys Uncertain significance Single submitter
- ALDH18A1 p.Glu660Lys Uncertain significance Single submitter
- ALDH18A1 p.Gly109Cys Uncertain significance Single submitter
-
ALDH18A1 p.Gly165Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
ALDH18A1 p.Gly237Trp
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gly307Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDH18A1 p.Gly322Val
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Gly346Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
ALDH18A1 p.Gly350Cys
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
Predictors split 151
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 151
-
ALDH18A1 p.Ala370Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Ala532Thr
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg126His
Likely pathogenic
Multiple submitters
autosomal recessive complex spastic paraplegia type 9B
-
ALDH18A1 p.Arg371Gln
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg400Cys
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg41Cys
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg41Gly
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg41His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Arg453Cys
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg456Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Arg456His
Uncertain significance
Multiple submitters
P5CS deficiency
-
ALDH18A1 p.Arg457His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Arg514Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Arg547Cys
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg547His
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg599Ser
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg622Gln
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Arg622Trp
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg7Cys
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Arg7Pro
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Asp280Val
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Glu412Asp
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Glu413Lys
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Glu465Lys
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Glu785Lys
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Glu87Lys
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gly290Arg
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gly528Arg
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Gly89Ser
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.His517Gln
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ile473Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
ALDH18A1 p.Ile685Thr
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
- ALDH18A1 p.Leu211Phe Uncertain significance Multiple submitters
-
ALDH18A1 p.Leu261Ile
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Leu262Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Leu283Phe
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Leu395Val
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Leu411Phe
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Leu422Val
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Lys22Glu
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Lys530Thr
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Pro358Thr
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Pro47Leu
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Pro648Ser
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ser248Asn
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ser29Phe
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 9A
-
ALDH18A1 p.Ser372Tyr
Benign
Multiple submitters
hereditary spastic paraplegia
-
ALDH18A1 p.Ser65Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
ALDH18A1 p.Ser694Phe
Uncertain significance
Multiple submitters
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Thr299Ile
Benign
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Thr760Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Val137Met
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val325Ile
Uncertain significance
Multiple submitters
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Val451Met
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val564Ile
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Val681Ile
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Val700Ile
Uncertain significance
Multiple submitters
de Barsy syndrome
-
ALDH18A1 p.Val714Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDH18A1 p.Val74Met
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val770Met
Uncertain significance
Multiple submitters
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Ala254Ser Uncertain significance Single submitter
-
ALDH18A1 p.Ala328Gly
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Ala414Thr Uncertain significance Single submitter
-
ALDH18A1 p.Ala461Thr
Likely benign
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Ala496Thr
Uncertain significance
Single submitter
ALDH18A1-related disorder
-
ALDH18A1 p.Ala523Ser
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala523Val
Likely benign
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ala532Val
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ala571Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDH18A1 p.Ala96Ser Uncertain significance Single submitter
-
ALDH18A1 p.Arg128Cys
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg201Trp
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg212Gly
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg400His
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg441Gln
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg457Cys
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg457Leu
Conflicting
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg55Cys
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg622Gly
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Arg765Gln
Conflicting
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Arg7His
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Asn14Asp
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asn202Tyr
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Asn537Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDH18A1 p.Asp280Gly
Uncertain significance
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Asp285Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDH18A1 p.Asp291Val Uncertain significance Single submitter
- ALDH18A1 p.Asp595Asn Uncertain significance Single submitter
-
ALDH18A1 p.Asp595Gly
Uncertain significance
Single submitter
ALDH18A1-related de Barsy syndrome
-
ALDH18A1 p.Asp595Val
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Asp623Asn
Conflicting
Single submitter
hereditary spastic paraplegia 9A
-
ALDH18A1 p.Asp703Tyr
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Gln682Arg
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Glu465Gln
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Glu704Lys
Conflicting
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Glu708Gly
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Glu776Asp Uncertain significance Single submitter
-
ALDH18A1 p.Gly498Ser
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.His517Tyr
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.His689Gln
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.His777Tyr
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ile37Met
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ile552Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDH18A1 p.Ile633Met
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Ile688Val Uncertain significance Single submitter
- ALDH18A1 p.Ile699Val Uncertain significance Single submitter
-
ALDH18A1 p.Leu207Phe
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Leu207Val
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Leu261Val
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
- ALDH18A1 p.Leu319Phe Uncertain significance Single submitter
-
ALDH18A1 p.Leu423Met
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Leu518Phe
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Leu519Val
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Leu664Val Uncertain significance Single submitter
- ALDH18A1 p.Leu671Val Uncertain significance Single submitter
-
ALDH18A1 p.Leu780Ser
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
- ALDH18A1 p.Lys649Ile Uncertain significance Single submitter
-
ALDH18A1 p.Lys68Asn
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Lys761Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDH18A1 p.Met577Val
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Met586Leu
Uncertain significance
Single submitter
ALDH18A1-related disorder
-
ALDH18A1 p.Pro227Arg
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Pro358Leu
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Pro361Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDH18A1 p.Pro52Leu
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ser427Asn
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ser431Tyr
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ser593Gly
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ser593Thr
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ser728Thr
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ser744Leu
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Ser744Thr
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Ser779Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ALDH18A1 p.Thr331Pro
Conflicting
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Thr760Ser
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val120Ile
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val189Leu
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val255Leu
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val255Met
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val349Gly
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Val533Met Uncertain significance Single submitter
-
ALDH18A1 p.Val542Ile
Conflicting
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val597Ile
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
- ALDH18A1 p.Val677Ala Uncertain significance Single submitter
-
ALDH18A1 p.Val681Phe
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
- ALDH18A1 p.Val698Ile Uncertain significance Single submitter
-
ALDH18A1 p.Val74Leu
Uncertain significance
Single submitter
de Barsy syndrome
-
ALDH18A1 p.Val75Leu
Uncertain significance
Single submitter
cutis laxa, autosomal dominant 3
-
ALDH18A1 p.Val99Ile
Uncertain significance
Single submitter
autosomal dominant spastic paraplegia type 9
-
ALDH18A1 p.Arg665Leu
Pathogenic
No assertion criteria
hereditary spastic paraplegia 9A
All ALDH18A1 variants
Pathogenic 30
- p.Arg138Gln Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg138Trp Multiple submitters cutis laxa, autosomal dominant 3
- p.Arg159Ter Multiple submitters cutis laxa, autosomal dominant 3
- p.Arg252Gln Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Arg252Ter Multiple submitters autosomal dominant spastic paraplegia type 9
- p.Arg441Ter Multiple submitters cutis laxa, autosomal dominant 3
- p.Arg84Ter Multiple submitters autosomal recessive complex spastic paraplegia type 9B
- c.558+1G>A Single submitter
- p.Ala160Ser Single submitter hereditary spastic paraplegia 9A ⚠
- p.Ala229fs Single submitter cutis laxa, autosomal dominant 3
- p.Arg138Leu Single submitter ALDH18A1-related de Barsy syndrome
- p.Arg599fs Single submitter cutis laxa, autosomal dominant 3
- p.Arg602fs Single submitter cutis laxa, autosomal dominant 3
- p.Arg602Ter Single submitter Inborn genetic diseases
- p.Asp247fs Single submitter cutis laxa, autosomal dominant 3
- p.Asp410fs Single submitter cutis laxa, autosomal dominant 3
- p.Gln568Ter Single submitter cutis laxa, autosomal dominant 3
- p.Gly500Val Single submitter ALDH18A1-related de Barsy syndrome
- p.Ile182fs Single submitter cutis laxa, autosomal dominant 3
- p.Leu156Ter Single submitter cutis laxa, autosomal dominant 3
- p.Lys572Ter Single submitter cutis laxa, autosomal dominant 3
- p.Met113fs Single submitter cutis laxa, autosomal dominant 3
- p.Ser134Phe Single submitter ALDH18A1-related de Barsy syndrome
- p.Thr706fs Single submitter de Barsy syndrome
- p.Val120Ala Single submitter autosomal dominant spastic paraplegia type 9
- c.1923+1G>A No assertion criteria ALDH18A1-related de Barsy syndrome
- p.Arg665Leu No assertion criteria hereditary spastic paraplegia 9A ⚠
- p.His784Tyr No assertion criteria ALDH18A1-related de Barsy syndrome
- p.Leu637Pro No assertion criteria autosomal recessive complex spastic paraplegia type 9B
- p.Leu711fs No assertion criteria ALDH18A1-related de Barsy syndrome
Pathogenic/Likely pathogenic 6
- p.Arg371Ter Multiple submitters autosomal recessive complex spastic paraplegia type 9B
- p.Arg459Ter Multiple submitters autosomal recessive complex spastic paraplegia type 9B
- p.Arg665Ter Multiple submitters autosomal dominant spastic paraplegia type 9
- p.Arg749Gln Multiple submitters autosomal dominant spastic paraplegia type 9
- p.Gln101Ter Multiple submitters Inborn genetic diseases
- p.Val533fs Multiple submitters Inborn genetic diseases
Likely pathogenic 24
- c.809-1G>A Multiple submitters cutis laxa, autosomal dominant 3
- c.88+1G>A Multiple submitters cutis laxa, autosomal dominant 3
- p.Arg126His Multiple submitters autosomal recessive complex spastic paraplegia type 9B ⚠
- p.Asp715His Multiple submitters de Barsy syndrome
- c.1152+1G>A Single submitter cutis laxa, autosomal dominant 3
- c.1468-2A>C Single submitter cutis laxa, autosomal dominant 3
- c.2110+1G>T Single submitter cutis laxa, autosomal dominant 3
- c.933+1G>A Single submitter de Barsy syndrome
- p.Ala494Val Single submitter autosomal recessive complex spastic paraplegia type 9B
- p.Arg425His Single submitter cutis laxa, autosomal dominant 3
- p.Arg64His Single submitter cutis laxa, autosomal dominant 3
- p.Asp697fs Single submitter
- p.Asp729Val Single submitter intellectual disability
- p.Cys161Tyr Single submitter
- p.Gln236fs Single submitter ALDH18A1-related de Barsy syndrome
- p.Glu111Gly Single submitter
- p.Glu776fs Single submitter cutis laxa, autosomal dominant 3
- p.Leu192Trp Single submitter ⚠
- p.Lys59fs Single submitter ALDH18A1-related de Barsy syndrome
- p.Ser136Arg Single submitter autosomal dominant spastic paraplegia type 9
- p.Tyr653Ter Single submitter
- p.Tyr782His Single submitter ALDH18A1-related de Barsy syndrome
- p.Val243Gly Single submitter
- p.Val243Leu Single submitter P5CS deficiency ⚠
Conflicting classifications of pathogenicity 53
- c.1153-13A>G Single submitter ALDH18A1-related de Barsy syndrome
- c.1467+15C>T Single submitter ALDH18A1-related de Barsy syndrome
- c.2110+13A>G Single submitter ALDH18A1-related de Barsy syndrome
- c.304-3C>T Single submitter ALDH18A1-related de Barsy syndrome
- c.454-9A>G Single submitter de Barsy syndrome
- c.718-7A>C Single submitter autosomal dominant spastic paraplegia type 9
- c.809-13G>A Single submitter ALDH18A1-related de Barsy syndrome
- c.809-1G>C Single submitter hereditary spastic paraplegia 9A
- c.89-1G>C Single submitter hereditary spastic paraplegia 9A
- c.89-6C>G Single submitter cutis laxa, autosomal dominant 3
- c.933+13T>C Single submitter ALDH18A1-related de Barsy syndrome
- c.933+14G>A Single submitter cutis laxa, autosomal dominant 3
- c.934-7T>A Single submitter cutis laxa, autosomal dominant 3
- c.-29+10G>A Single submitter ALDH18A1-related de Barsy syndrome
- c.-29+188_-29+211del Single submitter autosomal recessive complex spastic paraplegia type 9B
- c.*140C>T Single submitter hereditary spastic paraplegia
- p.Ala119= Single submitter cutis laxa, autosomal dominant 3
- p.Ala164= Single submitter hereditary spastic paraplegia
- p.Ala184Val Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala445= Single submitter de Barsy syndrome
- p.Ala532= Single submitter ALDH18A1-related de Barsy syndrome
- p.Arg128His Single submitter de Barsy syndrome ⚠
- p.Arg425Cys Single submitter autosomal recessive complex spastic paraplegia type 9B ⚠
- p.Arg456= Single submitter ALDH18A1-related de Barsy syndrome
- p.Arg457Leu Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg665Gln Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg726His Single submitter de Barsy syndrome ⚠
- p.Arg765Gln Single submitter de Barsy syndrome ⚠
- p.Arg765Ter Single submitter de Barsy syndrome
- p.Arg84Gln Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Asp273= Single submitter ALDH18A1-related de Barsy syndrome
- p.Asp623Asn Single submitter hereditary spastic paraplegia 9A ⚠
- p.Cys88= Single submitter ALDH18A1-related de Barsy syndrome
- p.Glu704Lys Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gly78Ser Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.His391Arg Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Ile438= Single submitter cutis laxa, autosomal dominant 3
- p.Ile644Asn Single submitter autosomal recessive complex spastic paraplegia type 9B ⚠
- p.Ile675Thr Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Leu418His Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Leu436= Single submitter ALDH18A1-related de Barsy syndrome
- p.Leu455= Single submitter autosomal dominant spastic paraplegia type 9
- p.Lys244_Asp245del Single submitter de Barsy syndrome
- p.Met369Thr Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Phe720= Single submitter de Barsy syndrome
- p.Ser580= Single submitter cutis laxa, autosomal dominant 3
- p.Ser744= Single submitter de Barsy syndrome
- p.Ser744Trp Single submitter de Barsy syndrome ⚠
- p.Ser779Gly Single submitter Inborn genetic diseases ⚠
- p.Thr25Ala Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Thr331Pro Single submitter de Barsy syndrome ⚠
- p.Tyr782Ser Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Val542Ile Single submitter cutis laxa, autosomal dominant 3 ⚠
Benign 63
- c.1153-30T>C Multiple submitters
- c.1246+105A>G Multiple submitters
- c.1246+94T>G Multiple submitters
- c.1606-48T>G Multiple submitters cutis laxa, autosomal dominant 3
- c.1923+299A>T Multiple submitters
- c.1924-118T>C Multiple submitters
- c.1924-128G>C Multiple submitters
- c.2110+24A>T Multiple submitters hereditary spastic paraplegia 9A
- c.2110+71C>G Multiple submitters
- c.2206+15G>A Multiple submitters autosomal recessive complex spastic paraplegia type 9B
- c.2207-46G>A Multiple submitters cutis laxa, autosomal dominant 3
- c.304-151A>G Multiple submitters
- c.304-293C>T Multiple submitters
- c.304-34A>G Multiple submitters autosomal recessive complex spastic paraplegia type 9B
- c.559-69G>A Multiple submitters
- c.718-163C>T Multiple submitters
- c.718-187A>G Multiple submitters
- c.808+67G>A Multiple submitters
- c.809-330G>A Multiple submitters
- c.88+126A>C Multiple submitters ALDH18A1-related de Barsy syndrome
- c.-29+247C>G Multiple submitters
- c.*155G>A Multiple submitters ALDH18A1-related de Barsy syndrome
- c.*412T>C Multiple submitters ALDH18A1-related de Barsy syndrome
- c.*611G>A Multiple submitters ALDH18A1-related de Barsy syndrome
- c.*699C>T Multiple submitters ALDH18A1-related de Barsy syndrome
- p.Glu667= Multiple submitters ALDH18A1-related de Barsy syndrome
- p.Ile343= Multiple submitters autosomal dominant spastic paraplegia type 9
- p.Ser372Tyr Multiple submitters hereditary spastic paraplegia ⚠
- p.Ser590= Multiple submitters cutis laxa, autosomal dominant 3
- p.Ser659= Multiple submitters ALDH18A1-related de Barsy syndrome
- p.Thr299Ile Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- c.1153-159_1153-147del Single submitter
- c.1153-280C>T Single submitter
- c.1247-73_1247-70del Single submitter
- c.1247-86_1247-85dup Single submitter
- c.1467+109A>G Single submitter
- c.1467+126C>T Single submitter
- c.1467+290C>A Single submitter
- c.1605+119C>T Single submitter
- c.1605+120C>G Single submitter
- c.1605+138T>A Single submitter
- c.1923+302_1923+303insTC Single submitter
- c.1923+305_1923+306insT Single submitter
- c.1923+68_1923+80del Single submitter
- c.1924-11del Single submitter autosomal dominant spastic paraplegia type 9
- c.2110+170A>G Single submitter
- c.2111-148T>C Single submitter
- c.2111-194C>T Single submitter
- c.2111-282A>C Single submitter
- c.2207-117A>C Single submitter
- c.2207-134T>C Single submitter
- c.558+289G>T Single submitter
- c.559-234C>G Single submitter
- c.559-272C>T Single submitter
- c.808+152A>G Single submitter
- c.808+287T>C Single submitter
- c.89-253T>G Single submitter
- c.89-285G>T Single submitter
- c.933+173G>C Single submitter
- c.934-187A>C Single submitter
- c.-28-213T>A Single submitter
- c.-29+127C>T Single submitter
- c.*227A>G Single submitter ALDH18A1-related de Barsy syndrome
Benign/Likely benign 5
- c.1606-18del Multiple submitters de Barsy syndrome
- c.2207-3C>T Multiple submitters hereditary spastic paraplegia
- c.-79A>G Multiple submitters hereditary spastic paraplegia
- c.*56T>A Multiple submitters ALDH18A1-related de Barsy syndrome
- p.Ile443= Multiple submitters cutis laxa, autosomal dominant 3
Likely benign 223
- c.1078+17A>G Multiple submitters de Barsy syndrome
- c.2111-7C>A Multiple submitters de Barsy syndrome
- c.2207-14A>T Multiple submitters cutis laxa, autosomal dominant 3
- c.303+10A>T Multiple submitters de Barsy syndrome
- c.718-20C>T Multiple submitters cutis laxa, autosomal dominant 3
- c.89-142A>G Multiple submitters
- c.-120A>G Multiple submitters ALDH18A1-related de Barsy syndrome
- c.*292C>T Multiple submitters ALDH18A1-related de Barsy syndrome
- p.Ala315= Multiple submitters cutis laxa, autosomal dominant 3
- p.Ala370= Multiple submitters cutis laxa, autosomal dominant 3
- p.Ala378= Multiple submitters cutis laxa, autosomal dominant 3
- p.Ala707= Multiple submitters cutis laxa, autosomal dominant 3
- p.Ala80= Multiple submitters de Barsy syndrome
- p.Arg126= Multiple submitters cutis laxa, autosomal dominant 3
- p.Asn680= Multiple submitters de Barsy syndrome
- p.Gly322= Multiple submitters autosomal dominant spastic paraplegia type 9
- p.Gly416= Multiple submitters de Barsy syndrome
- p.His338= Multiple submitters cutis laxa, autosomal dominant 3
- p.His747= Multiple submitters de Barsy syndrome
- p.Ile32= Multiple submitters cutis laxa, autosomal dominant 3
- p.Ile495= Multiple submitters cutis laxa, autosomal dominant 3
- p.Leu2= Multiple submitters cutis laxa, autosomal dominant 3
- p.Leu440= Multiple submitters autosomal dominant spastic paraplegia type 9
- p.Leu545= Multiple submitters cutis laxa, autosomal dominant 3
- p.Leu77= Multiple submitters autosomal dominant spastic paraplegia type 9
- p.Leu787= Multiple submitters de Barsy syndrome
- p.Phe13Ile Multiple submitters cutis laxa, autosomal dominant 3
- p.Thr696= Multiple submitters cutis laxa, autosomal dominant 3
- p.Val102= Multiple submitters cutis laxa, autosomal dominant 3
- c.1078+12_1078+14del Single submitter autosomal dominant spastic paraplegia type 9
- c.1078+15A>G Single submitter cutis laxa, autosomal dominant 3
- c.1078+20G>A Single submitter autosomal dominant spastic paraplegia type 9
- c.1079-11T>C Single submitter cutis laxa, autosomal dominant 3
- c.1079-16G>T Single submitter cutis laxa, autosomal dominant 3
- c.1079-8T>G Single submitter cutis laxa, autosomal dominant 3
- c.1152+12A>C Single submitter cutis laxa, autosomal dominant 3
- c.1152+8_1152+9del Single submitter de Barsy syndrome
- c.1152+84A>G Single submitter
- c.1153-11C>G Single submitter de Barsy syndrome
- c.1153-6T>C Single submitter cutis laxa, autosomal dominant 3
- c.1153-8_1153-5del Single submitter de Barsy syndrome
- c.1246+15A>G Single submitter de Barsy syndrome
- c.1247-16C>G Single submitter cutis laxa, autosomal dominant 3
- c.1247-16C>T Single submitter cutis laxa, autosomal dominant 3
- c.1247-17T>A Single submitter autosomal dominant spastic paraplegia type 9
- c.1247-18C>T Single submitter cutis laxa, autosomal dominant 3
- c.1247-19C>G Single submitter autosomal dominant spastic paraplegia type 9
- c.1247-70del Single submitter
- c.1247-8C>A Single submitter cutis laxa, autosomal dominant 3
- c.1467+12C>T Single submitter cutis laxa, autosomal dominant 3
- c.1467+16G>A Single submitter de Barsy syndrome
- c.1467+18G>A Single submitter cutis laxa, autosomal dominant 3
- c.1467+245C>T Single submitter
- c.1467+82dup Single submitter
- c.1467+86T>C Single submitter
- c.1468-17C>G Single submitter cutis laxa, autosomal dominant 3
- c.1468-19C>T Single submitter cutis laxa, autosomal dominant 3
- c.1605+111T>C Single submitter
- c.1605+11G>C Single submitter autosomal dominant spastic paraplegia type 9
- c.1605+16T>C Single submitter cutis laxa, autosomal dominant 3
- c.1605+203C>T Single submitter
- c.1606-13T>C Single submitter cutis laxa, autosomal dominant 3
- c.1606-15T>C Single submitter cutis laxa, autosomal dominant 3
- c.1606-19_1606-15del Single submitter autosomal dominant spastic paraplegia type 9
- c.1606-7T>C Single submitter cutis laxa, autosomal dominant 3
- c.1801+10A>G Single submitter cutis laxa, autosomal dominant 3
- c.1802-20C>A Single submitter de Barsy syndrome
- c.1802-20C>G Single submitter cutis laxa, autosomal dominant 3
- c.1923+11C>A Single submitter cutis laxa, autosomal dominant 3
- c.1923+13T>C Single submitter autosomal dominant spastic paraplegia type 9
- c.1924-234C>G Single submitter
- c.2110+10C>T Single submitter cutis laxa, autosomal dominant 3
- c.2110+11A>G Single submitter
- c.2110+12G>A Single submitter cutis laxa, autosomal dominant 3
- c.2110+15G>A Single submitter cutis laxa, autosomal dominant 3
- c.2110+16C>T Single submitter cutis laxa, autosomal dominant 3
- c.2111-12_2111-10del Single submitter de Barsy syndrome
- c.2111-12T>G Single submitter cutis laxa, autosomal dominant 3
- c.2111-14T>C Single submitter autosomal dominant spastic paraplegia type 9
- c.2111-5T>C Single submitter cutis laxa, autosomal dominant 3
- c.2206+17T>C Single submitter autosomal dominant spastic paraplegia type 9
- c.303+12G>A Single submitter autosomal dominant spastic paraplegia type 9
- c.303+14T>C Single submitter cutis laxa, autosomal dominant 3
- c.303+15A>G Single submitter cutis laxa, autosomal dominant 3
- c.303+4_303+7dup Single submitter de Barsy syndrome
- c.304-3del Single submitter autosomal dominant spastic paraplegia type 9
- c.453+13del Single submitter cutis laxa, autosomal dominant 3
- c.453+14C>G Single submitter cutis laxa, autosomal dominant 3
- c.454-12G>C Single submitter cutis laxa, autosomal dominant 3
- c.558+18G>T Single submitter autosomal dominant spastic paraplegia type 9
- c.558+297A>T Single submitter
- c.559-12T>C Single submitter autosomal dominant spastic paraplegia type 9
- c.559-19A>G Single submitter de Barsy syndrome
- c.559-208G>A Single submitter
- c.717+13T>C Single submitter cutis laxa, autosomal dominant 3
- c.718-13A>T Single submitter cutis laxa, autosomal dominant 3
- c.718-14A>G Single submitter cutis laxa, autosomal dominant 3
- c.718-151G>T Single submitter
- c.718-17T>C Single submitter
- c.809-12T>C Single submitter autosomal dominant spastic paraplegia type 9
- c.809-15_809-14del Single submitter autosomal dominant spastic paraplegia type 9
- c.809-17T>C Single submitter cutis laxa, autosomal dominant 3
- c.809-17T>G Single submitter cutis laxa, autosomal dominant 3
- c.809-18C>T Single submitter cutis laxa, autosomal dominant 3
- c.809-8T>C Single submitter autosomal dominant spastic paraplegia type 9
- c.88+13G>C Single submitter cutis laxa, autosomal dominant 3
- c.88+19T>G Single submitter autosomal dominant spastic paraplegia type 9
- c.89-12T>G Single submitter cutis laxa, autosomal dominant 3
- c.89-14T>G Single submitter cutis laxa, autosomal dominant 3
- c.89-9T>C Single submitter autosomal dominant spastic paraplegia type 9
- c.933+8del Single submitter cutis laxa, autosomal dominant 3
- c.-28-4G>C Single submitter
- c.-29_-29+1dup Single submitter
- c.-69CG[4] Single submitter
- c.*734C>A Single submitter ALDH18A1-related de Barsy syndrome
- c.*8C>T Single submitter
- p.Ala185= Single submitter cutis laxa, autosomal dominant 3
- p.Ala229= Single submitter cutis laxa, autosomal dominant 3
- p.Ala254= Single submitter cutis laxa, autosomal dominant 3
- p.Ala461Thr Single submitter de Barsy syndrome ⚠
- p.Ala491= Single submitter cutis laxa, autosomal dominant 3
- p.Ala494= Single submitter
- p.Ala523Val Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Ala651= Single submitter cutis laxa, autosomal dominant 3
- p.Arg159= Single submitter autosomal dominant spastic paraplegia type 9
- p.Arg371= Single submitter cutis laxa, autosomal dominant 3
- p.Arg425= Single submitter autosomal dominant spastic paraplegia type 9
- p.Arg457= Single submitter cutis laxa, autosomal dominant 3
- p.Arg626= Single submitter cutis laxa, autosomal dominant 3
- p.Asn14= Single submitter de Barsy syndrome
- p.Asn214= Single submitter autosomal dominant spastic paraplegia type 9
- p.Asn246= Single submitter
- p.Asn329= Single submitter
- p.Asp279= Single submitter cutis laxa, autosomal dominant 3
- p.Asp394= Single submitter cutis laxa, autosomal dominant 3
- p.Gln293= Single submitter cutis laxa, autosomal dominant 3
- p.Gln320Arg Single submitter autosomal dominant spastic paraplegia type 9
- p.Gln4= Single submitter cutis laxa, autosomal dominant 3
- p.Glu100= Single submitter cutis laxa, autosomal dominant 3
- p.Glu174= Single submitter autosomal dominant spastic paraplegia type 9
- p.Glu197= Single submitter cutis laxa, autosomal dominant 3
- p.Glu256= Single submitter cutis laxa, autosomal dominant 3
- p.Glu368= Single submitter cutis laxa, autosomal dominant 3
- p.Glu481= Single submitter cutis laxa, autosomal dominant 3
- p.Glu508= Single submitter autosomal dominant spastic paraplegia type 9
- p.Glu676= Single submitter autosomal dominant spastic paraplegia type 9
- p.Gly118= Single submitter
- p.Gly350= Single submitter autosomal dominant spastic paraplegia type 9
- p.Gly669= Single submitter cutis laxa, autosomal dominant 3
- p.Gly766= Single submitter
- p.Gly9= Single submitter de Barsy syndrome
- p.Gly93= Single submitter cutis laxa, autosomal dominant 3
- p.His39= Single submitter cutis laxa, autosomal dominant 3
- p.His517= Single submitter cutis laxa, autosomal dominant 3
- p.His579= Single submitter cutis laxa, autosomal dominant 3
- p.His695= Single submitter cutis laxa, autosomal dominant 3
- p.His713= Single submitter autosomal dominant spastic paraplegia type 9
- p.His769= Single submitter autosomal dominant spastic paraplegia type 9
- p.Ile460= Single submitter autosomal dominant spastic paraplegia type 9
- p.Ile526Val Single submitter cutis laxa, autosomal dominant 3
- p.Ile688= Single submitter cutis laxa, autosomal dominant 3
- p.Ile699= Single submitter cutis laxa, autosomal dominant 3
- p.Ile73= Single submitter autosomal dominant spastic paraplegia type 9
- p.Leu114= Single submitter
- p.Leu127= Single submitter cutis laxa, autosomal dominant 3
- p.Leu316= Single submitter cutis laxa, autosomal dominant 3
- p.Leu319= Single submitter
- p.Leu396= Single submitter cutis laxa, autosomal dominant 3
- p.Leu411= Single submitter cutis laxa, autosomal dominant 3
- p.Leu418= Single submitter cutis laxa, autosomal dominant 3
- p.Leu466= Single submitter cutis laxa, autosomal dominant 3
- p.Leu501= Single submitter autosomal dominant spastic paraplegia type 9
- p.Leu502= Single submitter cutis laxa, autosomal dominant 3
- p.Leu503= Single submitter cutis laxa, autosomal dominant 3
- p.Leu53= Single submitter cutis laxa, autosomal dominant 3
- p.Leu563= Single submitter cutis laxa, autosomal dominant 3
- p.Leu625= Single submitter cutis laxa, autosomal dominant 3
- p.Leu637= Single submitter cutis laxa, autosomal dominant 3
- p.Leu654= Single submitter
- p.Lys347= Single submitter cutis laxa, autosomal dominant 3
- p.Lys357= Single submitter cutis laxa, autosomal dominant 3
- p.Lys530= Single submitter cutis laxa, autosomal dominant 3
- p.Lys690= Single submitter cutis laxa, autosomal dominant 3
- p.Lys761= Single submitter
- p.Phe122= Single submitter autosomal dominant spastic paraplegia type 9
- p.Phe61= Single submitter cutis laxa, autosomal dominant 3
- p.Pro227= Single submitter cutis laxa, autosomal dominant 3
- p.Pro228= Single submitter
- p.Pro289= Single submitter autosomal dominant spastic paraplegia type 9
- p.Pro47= Single submitter autosomal dominant spastic paraplegia type 9
- p.Pro609= Single submitter autosomal dominant spastic paraplegia type 9
- p.Pro790= Single submitter de Barsy syndrome
- p.Ser136= Single submitter cutis laxa, autosomal dominant 3
- p.Ser143= Single submitter autosomal dominant spastic paraplegia type 9
- p.Ser274= Single submitter cutis laxa, autosomal dominant 3
- p.Ser435= Single submitter cutis laxa, autosomal dominant 3
- p.Ser446= Single submitter cutis laxa, autosomal dominant 3
- p.Ser450= Single submitter cutis laxa, autosomal dominant 3
- p.Ser65= Single submitter autosomal dominant spastic paraplegia type 9
- p.Ser693= Single submitter cutis laxa, autosomal dominant 3
- p.Ser716= Single submitter cutis laxa, autosomal dominant 3
- p.Thr206= Single submitter cutis laxa, autosomal dominant 3
- p.Thr25= Single submitter autosomal dominant spastic paraplegia type 9
- p.Thr323= Single submitter cutis laxa, autosomal dominant 3
- p.Thr379= Single submitter autosomal dominant spastic paraplegia type 9
- p.Thr397= Single submitter autosomal dominant spastic paraplegia type 9
- p.Thr430= Single submitter cutis laxa, autosomal dominant 3
- p.Thr50= Single submitter cutis laxa, autosomal dominant 3
- p.Thr759= Single submitter cutis laxa, autosomal dominant 3
- p.Tyr653= Single submitter
- p.Val155= Single submitter autosomal dominant spastic paraplegia type 9
- p.Val216= Single submitter autosomal dominant spastic paraplegia type 9
- p.Val226= Single submitter autosomal dominant spastic paraplegia type 9
- p.Val26Ile Single submitter autosomal dominant spastic paraplegia type 9
- p.Val335= Single submitter cutis laxa, autosomal dominant 3
- p.Val349= Single submitter cutis laxa, autosomal dominant 3
- p.Val639= Single submitter autosomal dominant spastic paraplegia type 9
- p.Val678= Single submitter de Barsy syndrome
- p.Val698= Single submitter cutis laxa, autosomal dominant 3
- p.Val739= Single submitter autosomal dominant spastic paraplegia type 9
- p.Val770= Single submitter cutis laxa, autosomal dominant 3
- p.His645= No assertion criteria ALDH18A1-related disorder
- p.Leu624= No assertion criteria ALDH18A1-related disorder
Uncertain significance 451
Showing the top 300 by review status; the full set is in the sitemap.
- c.1078+6T>C Multiple submitters autosomal recessive complex spastic paraplegia type 9B
- c.1605+5G>A Multiple submitters ALDH18A1-related de Barsy syndrome
- c.304-8A>G Multiple submitters P5CS deficiency
- c.809-3T>G Multiple submitters autosomal dominant spastic paraplegia type 9
- c.-5G>A Multiple submitters ALDH18A1-related de Barsy syndrome
- p.Ala171Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala370Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala393Thr Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Ala444Thr Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Ala532Thr Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Ala684Asp Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg200Cys Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg200His Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg201Gln Multiple submitters de Barsy syndrome ⚠
- p.Arg371Gln Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Arg400Cys Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg41Cys Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg41Gly Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Arg41His Multiple submitters Inborn genetic diseases ⚠
- p.Arg425Pro Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg453Cys Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg453His Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Arg456Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg456His Multiple submitters P5CS deficiency ⚠
- p.Arg457His Multiple submitters Inborn genetic diseases ⚠
- p.Arg483His Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.Arg514Gln Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg514Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg547Cys Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg547His Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg558Cys Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg55His Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg599Ser Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg622Gln Multiple submitters de Barsy syndrome ⚠
- p.Arg622Trp Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Arg64Cys Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg726Cys Multiple submitters de Barsy syndrome ⚠
- p.Arg732Cys Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.Arg732His Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Arg7Cys Multiple submitters de Barsy syndrome ⚠
- p.Arg7Pro Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Asn329Ser Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Asn705Ser Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Asp280Val Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Asp401Asn Multiple submitters de Barsy syndrome ⚠
- p.Asp544Gly Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Cys546Arg Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Gln4Arg Multiple submitters de Barsy syndrome ⚠
- p.Gln712Arg Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.Glu157Gln Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Glu197Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu412Asp Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Glu413Lys Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Glu465Lys Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Glu581Lys Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Glu616Asp Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Glu785Lys Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Glu87Lys Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Gly237Arg Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Gly290Arg Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Gly306Val Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Gly439Ser Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.Gly528Arg Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Gly578Arg Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Gly734Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly89Ser Multiple submitters de Barsy syndrome ⚠
- p.His195Arg Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.His30Tyr Multiple submitters de Barsy syndrome ⚠
- p.His390Arg Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.His517Gln Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.His57Asn Multiple submitters de Barsy syndrome ⚠
- p.Ile241Val Multiple submitters hereditary spastic paraplegia ⚠
- p.Ile286Val Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Ile343Val Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Ile473Thr Multiple submitters ⚠
- p.Ile473Val Multiple submitters hereditary spastic paraplegia ⚠
- p.Ile685Thr Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Ile98Thr Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Leu211Phe Multiple submitters ⚠
- p.Leu261Ile Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Leu262Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu283Phe Multiple submitters de Barsy syndrome ⚠
- p.Leu395Val Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Leu411Phe Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Leu422Val Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Leu501Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu535Gln Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.Leu600Val Multiple submitters ALDH18A1 deficiency ⚠
- p.Lys22Glu Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Lys244Arg Multiple submitters de Barsy syndrome ⚠
- p.Lys462Arg Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.Lys530Thr Multiple submitters de Barsy syndrome ⚠
- p.Lys596Asn Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.Lys649Arg Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Met636Thr Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Pro12Ala Multiple submitters de Barsy syndrome ⚠
- p.Pro276Ser Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Pro358Thr Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Pro47Leu Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Pro648Ser Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Ser248Asn Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Ser29Phe Multiple submitters hereditary spastic paraplegia 9A ⚠
- p.Ser580Arg Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.Ser65Ile Multiple submitters hereditary spastic paraplegia ⚠
- p.Ser694Phe Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Thr50Ala Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Thr759Ile Multiple submitters ALDH18A1-related disorder ⚠
- p.Thr760Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val137Met Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Val225Ile Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Val243Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val325Ile Multiple submitters ALDH18A1-related de Barsy syndrome ⚠
- p.Val339Ile Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Val451Met Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Val533Gly Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Val536Met Multiple submitters Inborn genetic diseases ⚠
- p.Val564Ala Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Val564Ile Multiple submitters de Barsy syndrome ⚠
- p.Val594Ile Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Val639Met Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Val681Ile Multiple submitters de Barsy syndrome ⚠
- p.Val700Ile Multiple submitters de Barsy syndrome ⚠
- p.Val700Phe Multiple submitters autosomal dominant spastic paraplegia type 9 ⚠
- p.Val714Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val74Met Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Val770Met Multiple submitters cutis laxa, autosomal dominant 3 ⚠
- p.Val81Met Multiple submitters Inborn genetic diseases ⚠
- c.1078+4A>G Single submitter autosomal dominant spastic paraplegia type 9
- c.1078+5A>G Single submitter autosomal dominant spastic paraplegia type 9
- c.1152+4A>G Single submitter cutis laxa, autosomal dominant 3
- c.1152+6A>C Single submitter cutis laxa, autosomal dominant 3
- c.1247-12A>G Single submitter cutis laxa, autosomal dominant 3
- c.1605+4G>A Single submitter cutis laxa, autosomal dominant 3
- c.1605+756G>A Single submitter
- c.1802-21_1802-17del Single submitter cutis laxa, autosomal dominant 3
- c.2110+6T>G Single submitter cutis laxa, autosomal dominant 3
- c.2207-7_2207-6inv Single submitter cutis laxa, autosomal dominant 3
- c.558+5G>C Single submitter
- c.558+6A>G Single submitter de Barsy syndrome
- c.717+9A>C Single submitter cutis laxa, autosomal dominant 3
- c.718-11C>G Single submitter cutis laxa, autosomal dominant 3
- c.718-3T>C Single submitter cutis laxa, autosomal dominant 3
- c.808+3A>G Single submitter autosomal dominant spastic paraplegia type 9
- c.89-3C>T Single submitter cutis laxa, autosomal dominant 3
- c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA Single submitter autosomal dominant spastic paraplegia type 9
- c.933+6A>C Single submitter autosomal dominant spastic paraplegia type 9
- c.-140G>A Single submitter ALDH18A1-related de Barsy syndrome
- c.-28-3C>T Single submitter
- c.-44G>A Single submitter ALDH18A1-related de Barsy syndrome
- c.-67C>T Single submitter ALDH18A1-related de Barsy syndrome
- c.*202T>C Single submitter ALDH18A1-related de Barsy syndrome
- c.*293G>A Single submitter ALDH18A1-related de Barsy syndrome
- c.*466T>G Single submitter ALDH18A1-related de Barsy syndrome
- c.*644A>G Single submitter ALDH18A1-related de Barsy syndrome
- c.*698G>A Single submitter ALDH18A1-related de Barsy syndrome
- p.Ala171Thr Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala185Phe Single submitter autosomal dominant spastic paraplegia type 9
- p.Ala250Thr Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Ala251Asp Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala251Val Single submitter ⚠
- p.Ala254Ser Single submitter ⚠
- p.Ala281Val Single submitter ALDH18A1-related de Barsy syndrome ⚠
- p.Ala310Ile Single submitter cutis laxa, autosomal dominant 3
- p.Ala310Thr Single submitter Inborn genetic diseases ⚠
- p.Ala310Val Single submitter Inborn genetic diseases ⚠
- p.Ala328Gly Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala359Val Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala414Thr Single submitter ⚠
- p.Ala420Ser Single submitter ⚠
- p.Ala491Glu Single submitter ⚠
- p.Ala492Pro Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala492Thr Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala496Thr Single submitter ALDH18A1-related disorder ⚠
- p.Ala523Pro Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Ala523Ser Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala532Val Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala570Ser Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala571Thr Single submitter Inborn genetic diseases ⚠
- p.Ala62Thr Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala646Pro Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Ala717Thr Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Ala737Asp Single submitter ⚠
- p.Ala96Ser Single submitter ⚠
- p.Arg126Cys Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg128Cys Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg201Trp Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg212Gly Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg252Gly Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg28Thr Single submitter ⚠
- p.Arg371Leu Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg371Pro Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg400His Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg441Gln Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg457Cys Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg459Gln Single submitter de Barsy syndrome ⚠
- p.Arg459Pro Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg483Cys Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg539Ser Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg558Gly Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg558His Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg55Cys Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg622Gly Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg726Leu Single submitter ⚠
- p.Arg7His Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg84Pro Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Arg94Cys Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Arg94His Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asn14Asp Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asn14Ser Single submitter autosomal recessive complex spastic paraplegia type 9B ⚠
- p.Asn191Thr Single submitter de Barsy syndrome ⚠
- p.Asn202Tyr Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Asn204Ser Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asn214Ile Single submitter ⚠
- p.Asn232Ser Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asn239Asp Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Asn45Lys Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asn513Tyr Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asn537Ile Single submitter Inborn genetic diseases ⚠
- p.Asn680Ser Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Asn795Asp Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Asp267His Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asp279Gly Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asp280Gly Single submitter de Barsy syndrome ⚠
- p.Asp285Asn Single submitter Inborn genetic diseases ⚠
- p.Asp291Val Single submitter ⚠
- p.Asp394Asn Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asp485Gly Single submitter P5CS deficiency ⚠
- p.Asp544Glu Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asp553Ala Single submitter ⚠
- p.Asp595Asn Single submitter ⚠
- p.Asp595Gly Single submitter ALDH18A1-related de Barsy syndrome ⚠
- p.Asp595Val Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asp697Val Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asp703= Single submitter autosomal dominant spastic paraplegia type 9
- p.Asp703Tyr Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Asp729Gly Single submitter ⚠
- p.Asp86Asn Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Cys23Arg Single submitter ⚠
- p.Cys486Tyr Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Cys612Arg Single submitter ⚠
- p.Cys8Arg Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Cys8Ser Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gln106Pro Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gln11His Single submitter de Barsy syndrome ⚠
- p.Gln139Arg Single submitter ⚠
- p.Gln384Arg Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gln384Glu Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Gln489= Single submitter ALDH18A1-related de Barsy syndrome
- p.Gln489Glu Single submitter Inborn genetic diseases ⚠
- p.Gln562Arg Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gln568Arg Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gln568Leu Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gln632Arg Single submitter ⚠
- p.Gln632Lys Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gln682Arg Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Glu100Ala Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Glu130Gly Single submitter ⚠
- p.Glu150Lys Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Glu345Gln Single submitter cutis laxa, autosomal dominant 3
- p.Glu383Gln Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Glu412Gln Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Glu413Gln Single submitter hereditary spastic paraplegia 9A ⚠
- p.Glu465Gln Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Glu522Leu Single submitter autosomal dominant spastic paraplegia type 9
- p.Glu541del Single submitter
- p.Glu591Asp Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Glu591Lys Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Glu607Lys Single submitter ⚠
- p.Glu660Lys Single submitter ⚠
- p.Glu708Gly Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Glu776Asp Single submitter ⚠
- p.Gly109Cys Single submitter ⚠
- p.Gly165Arg Single submitter hereditary spastic paraplegia ⚠
- p.Gly237Trp Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gly270= Single submitter hereditary spastic paraplegia
- p.Gly307Ser Single submitter Inborn genetic diseases ⚠
- p.Gly322Val Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Gly346Arg Single submitter hereditary spastic paraplegia ⚠
- p.Gly350Cys Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gly367Arg Single submitter ⚠
- p.Gly498Ser Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gly498Val Single submitter hereditary spastic paraplegia 9A ⚠
- p.Gly505Glu Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gly506Val Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gly559Val Single submitter Inborn genetic diseases ⚠
- p.Gly647Asp Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gly669Glu Single submitter ⚠
- p.Gly734Glu Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gly753Arg Single submitter autosomal dominant spastic paraplegia type 9 ⚠
- p.Gly756Glu Single submitter Inborn genetic diseases ⚠
- p.Gly85= Single submitter cutis laxa, autosomal dominant 3
- p.Gly85Glu Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.Gly93Val Single submitter ⚠
- p.Gly9Val Single submitter de Barsy syndrome ⚠
- p.His129Asp Single submitter ⚠
- p.His195Asn Single submitter ⚠
- p.His332Tyr Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.His391Leu Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.His39Arg Single submitter cutis laxa, autosomal dominant 3 ⚠
- p.His517Tyr Single submitter cutis laxa, autosomal dominant 3 ⚠