ASPA — 493 ClinVar variants
All ClinVar germline ASPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →
44 Pathogenic · 47 Pathogenic/Likely pathogenic · 89 Likely pathogenic · 13 Conflicting · 13 Benign · 2 Benign/Likely benign · 165 Likely benign · 120 Uncertain significance
Full ASPA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 130
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.
-
ASPA p.Gly274Arg
Pathogenic/Likely pathogenic
Multiple submitters
Canavan Disease, Familial Form
-
ASPA p.Ile226Thr
Likely pathogenic
Multiple submitters
Canavan Disease, Familial Form
- ASPA p.Asn121Asp Likely pathogenic Single submitter
-
ASPA p.Leu272Pro
Likely pathogenic
Single submitter
Canavan disease
-
ASPA p.Met139Val
Likely pathogenic
Single submitter
Canavan disease
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ASPA p.Arg71Cys
Conflicting
Single submitter
Canavan disease
-
ASPA p.Asn77Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ASPA p.Asp114Ala
Conflicting
Single submitter
Canavan disease
-
ASPA p.Ile170Thr
Conflicting
Single submitter
Canavan Disease, Familial Form
-
ASPA p.Ile177Thr
Conflicting
Single submitter
Canavan disease
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ASPA p.Arg92Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASPA p.Cys311Arg
Uncertain significance
Multiple submitters
Canavan disease
-
ASPA p.Gly101Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASPA p.Gly22Glu
Uncertain significance
Multiple submitters
Canavan disease
-
ASPA p.Ile308Val
Uncertain significance
Multiple submitters
Canavan disease
-
ASPA p.Leu312Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASPA p.Lys163Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASPA p.Ala165Thr
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Ala165Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Ala189Ser
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Ala219Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Ala286Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Ala7Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Arg309His
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Asn304Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Asn97Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Asp234Asn
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Asp275Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Asp85Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Cys310Gly
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Cys310Tyr
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Gly101Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Gly19Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Gly38Asp
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Ile127Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Ile157Thr
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Leu247Pro
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Leu272Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Leu75Pro
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Lys13Arg
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Met198Ile
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Met198Thr
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Phe135Leu
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Pro181His
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Pro217Ser
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Ser120Phe
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Ser169Tyr
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Thr20Ile
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Thr44Arg
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Trp34Arg
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Val154Ile
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Ala202Val
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Arg63Thr
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Asn134His
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Glu24Val
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Glu9Val
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Gly185Trp
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Ile6Thr
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Met122Arg
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Met261Val
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Pro271Ser
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Thr167Ile
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Thr298Lys
Uncertain significance
No assertion criteria
Canavan disease
Predictors split 67
The independent predictors disagree with each other — read with care.
-
ASPA p.Arg168Cys
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
ASPA p.Arg168His
Pathogenic/Likely pathogenic
Multiple submitters
Canavan Disease, Familial Form
-
ASPA p.Asn97Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASPA p.Asp110His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASPA p.Glu235Lys
Benign
Multiple submitters
Inborn genetic diseases
-
ASPA p.His244Pro
Uncertain significance
Multiple submitters
Canavan disease
-
ASPA p.His256Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASPA p.Ile143Phe
Pathogenic/Likely pathogenic
Multiple submitters
Canavan Disease, Familial Form
-
ASPA p.Leu126Val
Uncertain significance
Multiple submitters
Canavan disease
-
ASPA p.Pro183Leu
Likely pathogenic
Multiple submitters
Canavan disease
-
ASPA p.Val278Met
Likely benign
Multiple submitters
Canavan disease
-
ASPA p.Ala189Gly
Uncertain significance
Single submitter
Canavan disease
- ASPA p.Ala287Ser Uncertain significance Single submitter
- ASPA p.Ala305Val Uncertain significance Single submitter
-
ASPA p.Ala57Ser
Likely pathogenic
Single submitter
Canavan disease
-
ASPA p.Arg168Ser
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Arg188Lys
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Arg233Gln
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Arg233Trp
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Asn117Thr
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Asn134Lys
Uncertain significance
Single submitter
Canavan disease
- ASPA p.Asp249Asn Uncertain significance Single submitter
-
ASPA p.Cys152Ser
Likely pathogenic
Single submitter
Canavan disease
-
ASPA p.Gly258Ala
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Gly274Glu
Conflicting
Single submitter
Canavan disease
-
ASPA p.Gly45Arg
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.His244Leu
Conflicting
Single submitter
Canavan disease
- ASPA p.Ile143Met Uncertain significance Single submitter
-
ASPA p.Ile143Val
Conflicting
Single submitter
Canavan disease
-
ASPA p.Ile220Thr
Uncertain significance
Single submitter
Canavan disease
- ASPA p.Ile239Ser Likely pathogenic Single submitter
-
ASPA p.Ile270Thr
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Leu263Ser
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Leu30Val
Conflicting
Single submitter
Canavan disease
-
ASPA p.Lys213Glu
Conflicting
Single submitter
Canavan disease
-
ASPA p.Lys224Thr
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Lys300Arg
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Lys300Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ASPA p.Pro160Ser Uncertain significance Single submitter
-
ASPA p.Pro183Ser
Likely pathogenic
Single submitter
Canavan disease
-
ASPA p.Pro257Arg
Conflicting
Single submitter
Canavan disease
-
ASPA p.Pro280Leu
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Pro87Leu
Uncertain significance
Single submitter
Canavan disease
- ASPA p.Thr145Pro Uncertain significance Single submitter
-
ASPA p.Thr167Ala
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Thr269Met
Conflicting
Single submitter
Inborn genetic diseases
-
ASPA p.Thr299Ala
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Thr302Met
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Tyr109Cys
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Tyr173Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Tyr173Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASPA p.Tyr231Cys
Pathogenic
Single submitter
Canavan disease
-
ASPA p.Val14Ile
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Val222Phe
Uncertain significance
Single submitter
Canavan disease
-
ASPA p.Arg309Cys
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Asp110Asn
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Asp259Gly
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Gly212Arg
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.His141Tyr
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Ile239Val
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Ile242Asn
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Ile242Thr
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Ile52Phe
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Lys291Arg
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Pro260Thr
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Thr125Asn
Uncertain significance
No assertion criteria
Canavan disease
-
ASPA p.Val283Leu
Uncertain significance
No assertion criteria
Canavan disease
All ASPA variants
Pathogenic 44
- c.634+1G>A Multiple submitters Canavan disease
- p.Ala305Glu Multiple submitters Canavan Disease, Familial Form
- p.Cys218Ter Multiple submitters Canavan Disease, Familial Form
- p.Cys4fs Multiple submitters Canavan disease
- p.Gln12fs Multiple submitters Canavan disease
- p.Gln184Ter Multiple submitters Inborn genetic diseases
- p.Glu129fs Multiple submitters Canavan disease
- p.Met82fs Multiple submitters Inborn genetic diseases
- p.Pro181Thr Multiple submitters Canavan Disease, Familial Form
- p.Tyr231Ter Multiple submitters Canavan Disease, Familial Form
- p.Val278fs Multiple submitters Canavan disease
- c.237-1G>A Single submitter Canavan disease
- c.237-2A>C Single submitter Canavan disease
- c.634+2T>A Single submitter Canavan disease
- c.634+5_634+8del Single submitter Canavan disease
- p.Ala7_Leu69delinsVal Single submitter Canavan disease
- p.Arg233fs Single submitter Canavan Disease, Familial Form
- p.Arg71Ser Single submitter Inborn genetic diseases
- p.Asn70Ser Single submitter Canavan disease
- p.Asn77fs Single submitter Canavan disease
- p.Asp104fs Single submitter Canavan disease
- p.Asp110delinsValTer Single submitter Canavan disease
- p.Asp114Glu Single submitter Canavan disease
- p.Asp193fs Single submitter Canavan disease
- p.Gln12Ter Single submitter Canavan disease
- p.Gln42Ter Single submitter Canavan disease
- p.Glu178fs Single submitter Canavan disease
- p.Glu214Ter Single submitter Canavan disease
- p.Glu9Ter Single submitter Canavan disease
- p.Gly101fs Single submitter Canavan disease
- p.Gly27fs Single submitter Canavan disease
- p.His10fs Single submitter Canavan disease
- p.His98fs Single submitter Canavan disease
- p.Ile170fs Single submitter Canavan disease
- p.Phe100fs Single submitter Canavan Disease, Familial Form
- p.Pro245fs Single submitter Canavan disease
- p.Thr145fs Single submitter Canavan disease
- p.Thr53fs Single submitter Canavan disease
- p.Tyr142Ter Single submitter Canavan disease
- p.Tyr231Cys Single submitter Canavan disease ⚠
- p.Tyr289Ter Single submitter Canavan disease
- p.Tyr88Ter Single submitter Canavan disease
- p.Val186Asp Single submitter Canavan disease
- c.530_634+3del No assertion criteria Canavan disease
Pathogenic/Likely pathogenic 47
- c.237-2A>T Multiple submitters Canavan Disease, Familial Form
- c.433-2A>G Multiple submitters Canavan Disease, Familial Form
- c.634+1G>T Multiple submitters Canavan Disease, Familial Form
- c.635-1G>C Multiple submitters Canavan disease
- c.744+1G>A Multiple submitters Canavan disease
- p.Ala287Thr Multiple submitters Canavan Disease, Familial Form
- p.Ala296fs Multiple submitters Canavan disease
- p.Ala57Thr Multiple submitters Canavan disease
- p.Arg168Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg168His Multiple submitters Canavan Disease, Familial Form ⚠
- p.Arg71His Multiple submitters Canavan Disease, Familial Form
- p.Asn54Lys Multiple submitters Canavan disease
- p.Asp114Tyr Multiple submitters Canavan Disease, Familial Form
- p.Asp204fs Multiple submitters Canavan disease
- p.Asp204His Multiple submitters Canavan disease
- p.Asp249Val Multiple submitters Canavan disease
- p.Cys152Arg Multiple submitters Canavan Disease, Familial Form
- p.Cys152fs Multiple submitters Canavan disease
- p.Cys276fs Multiple submitters Canavan disease
- p.Gln194Ter Multiple submitters Canavan disease
- p.Glu285Ala Multiple submitters Canavan Disease, Familial Form
- p.Glu290Ter Multiple submitters Canavan disease
- p.Glu293fs Multiple submitters Canavan Disease, Familial Form
- p.Glu293fs Multiple submitters Canavan disease
- p.Glu95Ter Multiple submitters Canavan disease
- p.Gly123Glu Multiple submitters Canavan Disease, Familial Form
- p.Gly176Ser Multiple submitters mild Canavan disease
- p.Gly274Arg Multiple submitters Canavan Disease, Familial Form ⚠
- p.Gly27Arg Multiple submitters Canavan Disease, Familial Form
- p.His116fs Multiple submitters Canavan disease
- p.Ile11fs Multiple submitters Canavan Disease, Familial Form
- p.Ile143Phe Multiple submitters Canavan Disease, Familial Form ⚠
- p.Ile16Thr Multiple submitters Canavan disease
- p.Met1Ile Multiple submitters Canavan disease
- p.Met1Thr Multiple submitters Canavan disease
- p.Phe295Ser Multiple submitters Canavan disease
- p.Pro183His Multiple submitters Canavan disease
- p.Pro280Ser Multiple submitters Canavan Disease, Familial Form
- p.Pro50fs Multiple submitters Canavan disease
- p.Ser108fs Multiple submitters Canavan Disease, Familial Form
- p.Ser120fs Multiple submitters Inborn genetic diseases
- p.Ser146fs Multiple submitters Canavan disease
- p.Trp34Ter Multiple submitters Canavan disease
- p.Tyr155Ter Multiple submitters Canavan disease
- p.Val14fs Multiple submitters Canavan disease
- p.Val179fs Multiple submitters Canavan disease
- p.Val186Phe Multiple submitters Canavan disease
Likely pathogenic 89
- c.236+2T>C Multiple submitters Canavan disease
- c.237-1G>T Multiple submitters Canavan disease
- c.432+1G>A Multiple submitters Canavan disease
- c.527-2A>C Multiple submitters Canavan disease
- c.527-2A>G Multiple submitters Canavan disease
- c.635-2A>G Multiple submitters Canavan disease
- p.Asp68Ala Multiple submitters Canavan disease
- p.Glu129Lys Multiple submitters Canavan disease
- p.Glu24Gly Multiple submitters Canavan disease
- p.Gly180Val Multiple submitters Canavan Disease, Familial Form
- p.His244Arg Multiple submitters Canavan Disease, Familial Form
- p.Ile143Thr Multiple submitters Canavan Disease, Familial Form
- p.Ile226Thr Multiple submitters Canavan Disease, Familial Form ⚠
- p.Leu301Pro Multiple submitters Canavan Disease, Familial Form
- p.Leu30Pro Multiple submitters Canavan Disease, Familial Form
- p.Lys103fs Multiple submitters Canavan disease
- p.Lys144= Multiple submitters Canavan Disease, Familial Form
- p.Pro183Leu Multiple submitters Canavan disease ⚠
- p.Ter314Trp Multiple submitters Canavan disease
- c.236+1G>T Single submitter Canavan disease
- c.236+2T>A Single submitter Canavan disease
- c.432+1G>C Single submitter Canavan disease
- c.432+2T>C Single submitter Canavan disease
- c.526+1G>C Single submitter Canavan disease
- c.527-1G>A Single submitter Canavan disease
- c.527-1G>C Single submitter Canavan disease
- c.527-1G>T Single submitter Canavan disease
- c.745-1G>A Single submitter Canavan disease
- c.745-2A>G Single submitter Canavan disease
- p.Ala202Pro Single submitter Canavan disease
- p.Ala286Asp Single submitter Canavan disease
- p.Ala287Val Single submitter Canavan disease
- p.Ala57Ser Single submitter Canavan disease ⚠
- p.Ala57Val Single submitter Canavan disease
- p.Arg309fs Single submitter Canavan disease
- p.Arg43fs Single submitter Canavan disease
- p.Arg63_Tyr64insTer Single submitter Canavan disease
- p.Arg71Leu Single submitter Canavan disease
- p.Asn121Asp Single submitter ⚠
- p.Asn121fs Single submitter Canavan disease
- p.Asn23fs Single submitter Canavan disease
- p.Asn54His Single submitter Canavan disease
- p.Asn97fs Single submitter Canavan disease
- p.Asp114Asn Single submitter Canavan Disease, Familial Form
- p.Asp230fs Single submitter
- p.Asp266fs Single submitter Canavan disease
- p.Cys152Ser Single submitter Canavan disease ⚠
- p.Cys152Trp Single submitter Canavan disease
- p.Gln182Ter Single submitter Canavan disease
- p.Gln248Ter Single submitter Canavan disease
- p.Glu158Ter Single submitter Canavan disease
- p.Glu211Ter Single submitter Canavan Disease, Familial Form
- p.Glu227fs Single submitter Canavan disease
- p.Glu24Ter Single submitter Canavan disease
- p.Gly27Val Single submitter Inborn genetic diseases
- p.His159fs Single submitter Canavan disease
- p.His33fs Single submitter Canavan disease
- p.Ile206fs Single submitter Canavan disease
- p.Ile239Ser Single submitter ⚠
- p.Ile308fs Single submitter Canavan disease
- p.Leu126fs Single submitter Canavan disease
- p.Leu136fs Single submitter Canavan disease
- p.Leu272Pro Single submitter Canavan disease ⚠
- p.Lys163Ter Single submitter Canavan disease
- p.Lys32fs Single submitter Canavan disease
- p.Lys80_Lys81insTer Single submitter Canavan disease
- p.Met139Val Single submitter Canavan disease ⚠
- p.Met261fs Single submitter Canavan disease
- p.Phe135_Leu136insTer Single submitter Canavan disease
- p.Phe282fs Single submitter Canavan disease
- p.Phe29fs Single submitter Canavan disease
- p.Pro181Leu Single submitter Canavan disease
- p.Pro183Ser Single submitter Canavan disease ⚠
- p.Thr125fs Single submitter Canavan disease
- p.Thr166Ile Single submitter Canavan disease
- p.Thr26Ile Single submitter Canavan disease
- p.Thr298fs Single submitter Canavan disease
- p.Thr299fs Single submitter Canavan disease
- p.Thr302fs Single submitter Canavan disease
- p.Tyr231His Single submitter Canavan disease
- p.Tyr288Cys Single submitter Canavan disease
- p.Tyr288His Single submitter Canavan disease
- p.Tyr88Ter Single submitter Canavan disease
- p.Val186Ala Single submitter Canavan disease
- p.Val283fs Single submitter Canavan disease
- c.236+1G>A No assertion criteria Canavan disease
- p.Phe209fs No assertion criteria Canavan disease
- p.Pro217fs No assertion criteria Canavan disease
- p.Tyr173fs No assertion criteria Canavan disease
Conflicting classifications of pathogenicity 13
- p.Arg71Cys Single submitter Canavan disease ⚠
- p.Asn77Ser Single submitter Inborn genetic diseases ⚠
- p.Asp114Ala Single submitter Canavan disease ⚠
- p.Gly274Glu Single submitter Canavan disease ⚠
- p.His244Leu Single submitter Canavan disease ⚠
- p.Ile143Val Single submitter Canavan disease ⚠
- p.Ile170Thr Single submitter Canavan Disease, Familial Form ⚠
- p.Ile177Thr Single submitter Canavan disease ⚠
- p.Leu30Val Single submitter Canavan disease ⚠
- p.Lys213Glu Single submitter Canavan disease ⚠
- p.Pro257Arg Single submitter Canavan disease ⚠
- p.Thr269= Single submitter Canavan disease
- p.Thr269Met Single submitter Inborn genetic diseases ⚠
Benign 13
- p.Glu235Lys Multiple submitters Inborn genetic diseases ⚠
- c.236+126T>C Single submitter
- c.236+153T>C Single submitter
- c.432+157A>C Single submitter
- c.432+287A>T Single submitter
- c.433-235T>C Single submitter
- c.526+129G>A Single submitter
- c.527-322A>G Single submitter
- c.634+229_634+232dup Single submitter
- c.634+302A>C Single submitter
- c.635-297del Single submitter
- c.744+142C>T Single submitter
- c.744+216G>A Single submitter
Benign/Likely benign 2
- p.Met82Thr Multiple submitters Inborn genetic diseases
- p.Tyr231= Multiple submitters Inborn genetic diseases
Likely benign 165
- p.Ala171= Multiple submitters Inborn genetic diseases
- p.Ala39Thr Multiple submitters Canavan disease
- p.Ala93= Multiple submitters Inborn genetic diseases
- p.Cys218= Multiple submitters Inborn genetic diseases
- p.Gln194= Multiple submitters Inborn genetic diseases
- p.His10= Multiple submitters Inborn genetic diseases
- p.His207= Multiple submitters Canavan disease
- p.Pro280= Multiple submitters Inborn genetic diseases
- p.Ser108= Multiple submitters Inborn genetic diseases
- p.Ser161= Multiple submitters Inborn genetic diseases
- p.Thr166= Multiple submitters Inborn genetic diseases
- p.Thr26= Multiple submitters Inborn genetic diseases
- p.Thr302= Multiple submitters Canavan disease
- p.Val278Met Multiple submitters Canavan disease ⚠
- c.236+13T>G Single submitter Canavan disease
- c.236+16G>A Single submitter Canavan disease
- c.236+17T>C Single submitter Canavan disease
- c.236+9A>G Single submitter Canavan disease
- c.237-15T>C Single submitter Canavan disease
- c.237-17C>A Single submitter Canavan disease
- c.237-6T>A Single submitter Canavan disease
- c.237-6T>C Single submitter Canavan disease
- c.237-8T>C Single submitter Canavan disease
- c.432+10A>G Single submitter Canavan disease
- c.432+12G>A Single submitter Canavan disease
- c.432+13T>C Single submitter Canavan disease
- c.432+16T>C Single submitter Canavan disease
- c.432+18A>T Single submitter Canavan disease
- c.432+7T>G Single submitter Canavan disease
- c.432+8T>C Single submitter Canavan disease
- c.433-12G>T Single submitter Canavan disease
- c.433-18G>A Single submitter Canavan disease
- c.433-19_433-18dup Single submitter Canavan disease
- c.433-19C>T Single submitter Canavan disease
- c.433-5T>C Single submitter Canavan disease
- c.433-8T>C Single submitter Canavan disease
- c.433-9T>A Single submitter Canavan disease
- c.526+16del Single submitter Canavan disease
- c.526+9T>C Single submitter Canavan disease
- c.527-12T>C Single submitter Canavan disease
- c.527-14C>T Single submitter Canavan disease
- c.527-18C>T Single submitter Canavan disease
- c.527-20A>G Single submitter Canavan disease
- c.527-7T>C Single submitter Canavan disease
- c.634+10_634+12del Single submitter Canavan disease
- c.634+18del Single submitter Canavan disease
- c.634+8A>G Single submitter Canavan disease
- c.635-10T>C Single submitter Canavan disease
- c.635-13G>C Single submitter Canavan disease
- c.635-14T>C Single submitter Canavan disease
- c.635-15T>C Single submitter Canavan disease
- c.635-17T>G Single submitter Canavan disease
- c.635-18del Single submitter Canavan disease
- c.744+11T>C Single submitter Canavan disease
- c.744+12T>C Single submitter Canavan disease
- c.744+15T>C Single submitter Canavan disease
- c.744+16T>C Single submitter Canavan disease
- c.744+17_744+20del Single submitter Canavan disease
- c.744+17C>G Single submitter Canavan disease
- c.744+18T>C Single submitter Canavan disease
- c.744+8T>C Single submitter Canavan disease
- c.745-11T>C Single submitter Canavan disease
- c.745-14T>C Single submitter Canavan disease
- c.745-15A>G Single submitter Canavan disease
- c.745-16G>T Single submitter Canavan disease
- c.745-17T>C Single submitter Canavan disease
- c.745-6T>G Single submitter Canavan disease
- p.Ala148= Single submitter Canavan disease
- p.Ala15= Single submitter Canavan disease
- p.Ala189= Single submitter Canavan disease
- p.Ala202= Single submitter Canavan disease
- p.Ala241= Single submitter Canavan disease
- p.Ala286= Single submitter Canavan disease
- p.Ala287= Single submitter Canavan disease
- p.Ala294= Single submitter Canavan disease
- p.Ala305= Single submitter
- p.Ala57= Single submitter Canavan disease
- p.Arg132= Single submitter Canavan disease
- p.Arg233= Single submitter Canavan disease
- p.Arg309= Single submitter Canavan disease
- p.Arg56= Single submitter Canavan disease
- p.Arg71= Single submitter Canavan disease
- p.Arg92= Single submitter Canavan disease
- p.Asn121= Single submitter Canavan disease
- p.Asn134= Single submitter Canavan disease
- p.Asn210= Single submitter Canavan disease
- p.Asn236= Single submitter Canavan disease
- p.Asn284= Single submitter Canavan disease
- p.Asn304= Single submitter Canavan disease
- p.Asn37= Single submitter Canavan disease
- p.Asn97= Single submitter Canavan disease
- p.Asp104= Single submitter Canavan disease
- p.Asp110= Single submitter Canavan disease
- p.Asp114= Single submitter Canavan disease
- p.Asp204= Single submitter Canavan disease
- p.Asp266= Single submitter Canavan disease
- p.Asp66= Single submitter Canavan disease
- p.Cys124= Single submitter Canavan disease
- p.Cys4Arg Single submitter Canavan disease
- p.Gln12= Single submitter Canavan disease
- p.Glu178= Single submitter Canavan disease
- p.Glu285= Single submitter Canavan disease
- p.Glu293= Single submitter Canavan disease
- p.Glu47= Single submitter Canavan disease
- p.Gly101= Single submitter Canavan disease
- p.Gly123= Single submitter Canavan disease
- p.Gly176= Single submitter Canavan disease
- p.Gly180= Single submitter Canavan disease
- p.Gly19= Single submitter Canavan disease
- p.Gly212= Single submitter Canavan disease
- p.Gly27= Single submitter Canavan disease
- p.Gly273= Single submitter Canavan disease
- p.Gly38= Single submitter Canavan disease
- p.His201= Single submitter Canavan disease
- p.His21= Single submitter Canavan disease
- p.His244= Single submitter Canavan disease
- p.His33= Single submitter Canavan disease
- p.His5= Single submitter Canavan disease
- p.Ile16= Single submitter Canavan disease
- p.Ile191= Single submitter Canavan disease
- p.Ile243= Single submitter Canavan disease
- p.Ile270= Single submitter Canavan disease
- p.Ile308= Single submitter Canavan disease
- p.Ile65= Single submitter Canavan disease
- p.Leu136= Single submitter Canavan disease
- p.Leu147= Single submitter Canavan disease
- p.Leu150= Single submitter Canavan disease
- p.Leu203= Single submitter Canavan disease
- p.Leu247= Single submitter Canavan disease
- p.Leu25= Single submitter Canavan disease
- p.Leu263= Single submitter Canavan disease
- p.Leu30= Single submitter Canavan disease
- p.Leu303= Single submitter Canavan disease
- p.Leu46= Single submitter Canavan disease
- p.Lys103= Single submitter Canavan disease
- p.Lys163= Single submitter Canavan disease
- p.Lys197= Single submitter Canavan disease
- p.Lys200= Single submitter Canavan disease
- p.Lys253= Single submitter Canavan disease
- p.Phe215= Single submitter Canavan disease
- p.Phe29= Single submitter Canavan disease
- p.Pro149= Single submitter Canavan disease
- p.Pro257= Single submitter Canavan disease
- p.Pro50= Single submitter Canavan disease
- p.Ser105= Single submitter Canavan disease
- p.Ser131= Single submitter Canavan disease
- p.Ser146= Single submitter Canavan disease
- p.Ser169= Single submitter Canavan disease
- p.Ser307= Single submitter Canavan disease
- p.Thr125= Single submitter Canavan disease
- p.Thr277= Single submitter Canavan disease
- p.Thr44= Single submitter Canavan disease
- p.Tyr142= Single submitter Canavan disease
- p.Tyr153= Single submitter Canavan disease
- p.Tyr164= Single submitter Canavan disease
- p.Tyr173= Single submitter Canavan disease
- p.Tyr288= Single submitter Canavan disease
- p.Tyr289= Single submitter Canavan disease
- p.Tyr64= Single submitter Canavan disease
- p.Tyr88= Single submitter
- p.Val278= Single submitter Canavan disease
- p.Val28= Single submitter Canavan disease
- p.Val281= Single submitter Canavan disease
- p.Val281Met Single submitter Canavan disease
- c.744+6A>G No assertion criteria ASPA-related disorder
Uncertain significance 120
- p.Arg92Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn97Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp110His Multiple submitters Inborn genetic diseases ⚠
- p.Cys311Arg Multiple submitters Canavan disease ⚠
- p.Gly101Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly22Glu Multiple submitters Canavan disease ⚠
- p.His244Pro Multiple submitters Canavan disease ⚠
- p.His256Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile308Val Multiple submitters Canavan disease ⚠
- p.Leu126Val Multiple submitters Canavan disease ⚠
- p.Leu312Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys163Gln Multiple submitters Inborn genetic diseases ⚠
- c.634+3A>G Single submitter Canavan disease
- c.635-3T>C Single submitter Canavan disease
- c.744+6A>T Single submitter Canavan disease
- c.-6G>A Single submitter Canavan disease
- p.Ala165Thr Single submitter Canavan disease ⚠
- p.Ala165Val Single submitter Inborn genetic diseases ⚠
- p.Ala189Gly Single submitter Canavan disease ⚠
- p.Ala189Ser Single submitter Canavan disease ⚠
- p.Ala219Thr Single submitter Inborn genetic diseases ⚠
- p.Ala286Thr Single submitter Inborn genetic diseases ⚠
- p.Ala287Ser Single submitter ⚠
- p.Ala305Val Single submitter ⚠
- p.Ala7Asp Single submitter Inborn genetic diseases ⚠
- p.Arg168Ser Single submitter Canavan disease ⚠
- p.Arg188Lys Single submitter Canavan disease ⚠
- p.Arg233Gln Single submitter Canavan disease ⚠
- p.Arg233Trp Single submitter Canavan disease ⚠
- p.Arg309His Single submitter Canavan disease ⚠
- p.Asn117Thr Single submitter Canavan disease ⚠
- p.Asn134Lys Single submitter Canavan disease ⚠
- p.Asn304Ile Single submitter Inborn genetic diseases ⚠
- p.Asn97Lys Single submitter Inborn genetic diseases ⚠
- p.Asp234Asn Single submitter Canavan disease ⚠
- p.Asp249Asn Single submitter ⚠
- p.Asp275Glu Single submitter Inborn genetic diseases ⚠
- p.Asp85Glu Single submitter Inborn genetic diseases ⚠
- p.Cys310Gly Single submitter Canavan disease ⚠
- p.Cys310Tyr Single submitter Canavan disease ⚠
- p.Gly101Asp Single submitter Inborn genetic diseases ⚠
- p.Gly19Arg Single submitter Inborn genetic diseases ⚠
- p.Gly258Ala Single submitter Canavan disease ⚠
- p.Gly38Asp Single submitter Canavan disease ⚠
- p.Gly45Arg Single submitter Canavan disease ⚠
- p.Ile127Thr Single submitter Inborn genetic diseases ⚠
- p.Ile143Met Single submitter ⚠
- p.Ile157Thr Single submitter Canavan disease ⚠
- p.Ile220Thr Single submitter Canavan disease ⚠
- p.Ile270Thr Single submitter Canavan disease ⚠
- p.Leu247Pro Single submitter Canavan disease ⚠
- p.Leu263Ser Single submitter Canavan disease ⚠
- p.Leu272Met Single submitter Inborn genetic diseases ⚠
- p.Leu312Ter Single submitter Canavan disease
- p.Leu75Pro Single submitter Canavan disease ⚠
- p.Lys13Arg Single submitter Canavan disease ⚠
- p.Lys224Thr Single submitter Canavan disease ⚠
- p.Lys300Arg Single submitter Canavan disease ⚠
- p.Lys300Gln Single submitter Inborn genetic diseases ⚠
- p.Met198Ile Single submitter Canavan disease ⚠
- p.Met198Thr Single submitter Canavan disease ⚠
- p.Phe135Leu Single submitter Canavan disease ⚠
- p.Pro160Ser Single submitter ⚠
- p.Pro181His Single submitter Canavan disease ⚠
- p.Pro217Ser Single submitter Canavan disease ⚠
- p.Pro280Leu Single submitter Canavan disease ⚠
- p.Pro87Leu Single submitter Canavan disease ⚠
- p.Ser120Phe Single submitter Canavan disease ⚠
- p.Ser169Tyr Single submitter Canavan disease ⚠
- p.Thr145Pro Single submitter ⚠
- p.Thr167Ala Single submitter Canavan disease ⚠
- p.Thr20Ile Single submitter Canavan disease ⚠
- p.Thr299Ala Single submitter Canavan disease ⚠
- p.Thr302Met Single submitter Canavan disease ⚠
- p.Thr44Arg Single submitter Canavan disease ⚠
- p.Trp34Arg Single submitter Canavan disease ⚠
- p.Tyr109Cys Single submitter Canavan disease ⚠
- p.Tyr173Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr173Phe Single submitter Inborn genetic diseases ⚠
- p.Val14Ile Single submitter Canavan disease ⚠
- p.Val154Ile Single submitter Canavan disease ⚠
- p.Val222Phe Single submitter Canavan disease ⚠
- c.432+6G>A No assertion criteria Canavan disease
- c.526+8A>C No assertion criteria Canavan disease
- c.634+9T>C No assertion criteria Canavan disease
- c.-3G>C No assertion criteria Canavan disease
- p.Ala202Val No assertion criteria Canavan disease ⚠
- p.Ala39= No assertion criteria Canavan disease
- p.Ala7= No assertion criteria Canavan disease
- p.Arg309Cys No assertion criteria Canavan disease ⚠
- p.Arg63Thr No assertion criteria Canavan disease ⚠
- p.Asn134His No assertion criteria Canavan disease ⚠
- p.Asp110Asn No assertion criteria Canavan disease ⚠
- p.Asp259Gly No assertion criteria Canavan disease ⚠
- p.Glu24Val No assertion criteria Canavan disease ⚠
- p.Glu293del No assertion criteria Canavan disease
- p.Glu9Val No assertion criteria Canavan disease ⚠
- p.Gly185Trp No assertion criteria Canavan disease ⚠
- p.Gly212Arg No assertion criteria Canavan disease ⚠
- p.Gly22= No assertion criteria Canavan disease
- p.Gly267= No assertion criteria Canavan disease
- p.His141Tyr No assertion criteria Canavan disease ⚠
- p.Ile239Val No assertion criteria Canavan disease ⚠
- p.Ile242Asn No assertion criteria Canavan disease ⚠
- p.Ile242Thr No assertion criteria Canavan disease ⚠
- p.Ile52Phe No assertion criteria Canavan disease ⚠
- p.Ile6Thr No assertion criteria Canavan disease ⚠
- p.Leu156= No assertion criteria Canavan disease
- p.Leu78= No assertion criteria Canavan disease
- p.Lys291Arg No assertion criteria Canavan disease ⚠
- p.Met122Arg No assertion criteria Canavan disease ⚠
- p.Met261Val No assertion criteria Canavan disease ⚠
- p.Phe205_His207del No assertion criteria Canavan disease
- p.Phe205del No assertion criteria Canavan disease
- p.Pro260Thr No assertion criteria Canavan disease ⚠
- p.Pro271Ser No assertion criteria Canavan disease ⚠
- p.Thr125Asn No assertion criteria Canavan disease ⚠
- p.Thr167Ile No assertion criteria Canavan disease ⚠
- p.Thr298Lys No assertion criteria Canavan disease ⚠
- p.Val283Leu No assertion criteria Canavan disease ⚠