ADSL — 622 ClinVar variants
All ClinVar germline ADSL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 253 flagged for review →
32 Pathogenic · 17 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 44 Conflicting · 28 Benign · 4 Benign/Likely benign · 212 Likely benign · 262 Uncertain significance
Full ADSL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 253
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 7
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ADSL p.Arg190Gln
Pathogenic/Likely pathogenic
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Thr450Ser
Pathogenic/Likely pathogenic
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Asp430Asn
Likely pathogenic
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Glu25Lys
Likely pathogenic
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met225Thr
Pathogenic
No assertion criteria
adenylosuccinate lyase deficiency
-
ADSL p.Pro100Ala
Pathogenic
No assertion criteria
adenylosuccinate lyase deficiency
-
ADSL p.Ser438Pro
Pathogenic
No assertion criteria
adenylosuccinate lyase deficiency
Predictors agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ADSL p.Ala431Thr
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg296Trp
Conflicting
Single submitter
Inborn genetic diseases
-
ADSL p.Gln61His
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Glu376Asp
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Gly4Ala
Conflicting
Single submitter
Inborn genetic diseases
-
ADSL p.His7Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ADSL p.Ile287Val
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ile427Val
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Pro281Arg
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Pro446His
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 136
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ADSL p.Ala348Thr
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Ala480Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Arg14Cys
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg196Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Arg245Gln
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg270Cys
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg296Gln
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg300His
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg300Ser
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg309Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Arg329His
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg374Gln
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg85Gln
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Cys305Gly
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Gln161Arg
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Gln286Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Gly288Ala
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Gly361Arg
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Gly418Glu
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Gly4Val
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Gly54Asp
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.His91Tyr
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Ile339Asn
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Met299Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Met389Ile
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Thr321Ile
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Tyr34Cys
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Val88Ala
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Ala110Thr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala273Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala291Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala3Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala453Asp
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala47Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala49Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg149Gln
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg14Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg14Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg171Cys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg171His
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg196Trp
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg270His
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg300Cys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg303His
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg329Cys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg338Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg33Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Arg372Ser
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg404Ser
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asn274Asp
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asn297Lys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asn336Lys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp11His
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp144Asn
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp32Tyr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp6Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Asp6Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.Cys483Arg Uncertain significance Single submitter
-
ADSL p.Cys483Tyr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Gln161His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Gln285Glu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Gln325Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Glu213Asp
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Glu343Lys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Glu481Asp
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.Glu80Asp Uncertain significance Single submitter
-
ADSL p.Glu81Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Gly116Glu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Gly197Glu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Gly203Asp
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Gly418Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Gly4Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.His107Tyr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.His159Tyr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.His217Tyr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.His7Asp
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.His86Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.His86Gln
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.His86Pro
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.His91Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.His91Asp
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ile176Thr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ile238Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ile351Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Leu124Ile
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Leu155Ser
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Leu193Pro
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Leu211His
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Leu307Phe
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Leu69Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.Lys276Asn Uncertain significance Single submitter
-
ADSL p.Met181Ile
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met181Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met292Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Met316Thr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met316Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met380Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Met476Ile
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met76Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met76Thr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.Met76Val Uncertain significance Single submitter
-
ADSL p.Phe232Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Phe282Ser
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Pro10Ala
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Pro16Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Pro16Ser
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Pro281Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ser12Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ser151Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ser257Asn
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ser257Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ser290Asn
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ser448Cys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Thr204Ile
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Thr204Ser
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Thr382Ile
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.Thr38Arg Uncertain significance Single submitter
-
ADSL p.Thr450Ile
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Thr52Lys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Trp326Cys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Trp43Cys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Tyr21Cys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Tyr294Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Tyr34His
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Tyr365His
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val219Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val29Glu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val414Phe
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val429Ala
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val457Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val465Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val475Met
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val88Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val92Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val92Met
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Thr347Asn
Uncertain significance
No assertion criteria
ADSL-related disorder
Predictors split 100
The independent predictors disagree with each other — read with care.
-
ADSL p.Ala103Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADSL p.Ala136Thr Uncertain significance Multiple submitters
-
ADSL p.Ala206Gly
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Ala3Thr
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg371Trp
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Arg372His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Arg426His
Pathogenic
Multiple submitters
Inborn genetic diseases
-
ADSL p.Arg452His
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Asn126Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Asn421Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Asp11Val
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Asp6His
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Asp73Asn
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Gln455His
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Gly419Val
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Ile269Val
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Ile369Leu
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Ile369Thr
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Ile403Leu
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Lys147Met
Benign
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Lys66Ile
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Lys75Arg
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Met181Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Met380Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Ser412Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADSL p.Ser447Phe
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Thr354Ala
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Thr354Met
Uncertain significance
Multiple submitters
adenylosuccinate lyase deficiency
-
ADSL p.Ala102Ser
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala136Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala150Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala206Ser
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala260Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala2Val
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ala411Thr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.Arg188Cys Uncertain significance Single submitter
-
ADSL p.Arg188His
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg190Gly
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg194Cys
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg194His
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg371Gln
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg374Trp
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg426Cys
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg452Cys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg83Cys
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Arg83His
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp129Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp191Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp192Tyr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp215Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp215His
Likely pathogenic
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp420Asn
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp59Asn
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Asp59Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Gln285Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Gln409Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.Glu464Val Uncertain significance Single submitter
-
ADSL p.Glu48Lys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Glu60Ala
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.His442Pro Uncertain significance Single submitter
-
ADSL p.His93Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ile105Met
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ile122Met
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ile351Met
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ile373Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ile72Met
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Leu17Phe
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Leu258Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ADSL p.Leu275Phe Uncertain significance Single submitter
-
ADSL p.Leu469Ile
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Lys147Glu
Conflicting
Single submitter
Inborn genetic diseases
-
ADSL p.Lys66Thr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Lys82Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Lys82Gln
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met278Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met299Val
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Met312Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Met387Val
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Phe208Tyr
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Phe327Leu
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Pro24Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ADSL p.Pro366Ala
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Pro467Arg
Conflicting
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.Ser151Arg Uncertain significance Single submitter
- ADSL p.Ser19Cys Uncertain significance Single submitter
-
ADSL p.Ser19Phe
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ser306Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ser447Pro
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Ser448Pro
Conflicting
Single submitter
Inborn genetic diseases
-
ADSL p.Ser474Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Thr58Arg
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Thr94Ile
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Tyr432Cys
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
- ADSL p.Tyr472His Likely pathogenic Single submitter
-
ADSL p.Val168Ile
Conflicting
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val219Ile
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val247Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADSL p.Val262Ala
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val315Gly
Uncertain significance
Single submitter
adenylosuccinate lyase deficiency
-
ADSL p.Val363Ala
Conflicting
Single submitter
adenylosuccinate lyase deficiency
All ADSL variants
Pathogenic 32
- p.Arg190Ter Multiple submitters ADSL-related disorder
- p.Arg270fs Multiple submitters adenylosuccinate lyase deficiency
- p.Arg337Ter Multiple submitters adenylosuccinate lyase deficiency
- p.Arg426His Multiple submitters Inborn genetic diseases ⚠
- p.Arg85Ter Multiple submitters adenylosuccinate lyase deficiency
- p.Asp268Asn Multiple submitters adenylosuccinate lyase deficiency
- p.Gln184Ter Multiple submitters adenylosuccinate lyase deficiency
- p.Gln408Ter Multiple submitters adenylosuccinate lyase deficiency
- p.Tyr114His Multiple submitters Inborn genetic diseases
- c.701+1G>A Single submitter adenylosuccinate lyase deficiency
- c.701+1G>T Single submitter adenylosuccinate lyase deficiency
- p.Ala90Thr Single submitter adenylosuccinate lyase deficiency
- p.Arg125fs Single submitter adenylosuccinate lyase deficiency
- p.Arg245Ter Single submitter adenylosuccinate lyase deficiency
- p.Arg396fs Single submitter adenylosuccinate lyase deficiency
- p.Asp223fs Single submitter adenylosuccinate lyase deficiency
- p.Asp268His Single submitter adenylosuccinate lyase deficiency
- p.Gln210Ter Single submitter adenylosuccinate lyase deficiency
- p.Gln285Ter Single submitter
- p.Gln51Ter Single submitter adenylosuccinate lyase deficiency
- p.Gln63fs Single submitter adenylosuccinate lyase deficiency
- p.Glu25Ter Single submitter adenylosuccinate lyase deficiency
- p.Glu277Ter Single submitter adenylosuccinate lyase deficiency
- p.Glu343fs Single submitter adenylosuccinate lyase deficiency
- p.Leu319fs Single submitter adenylosuccinate lyase deficiency
- p.Met26Leu Single submitter adenylosuccinate lyase deficiency
- p.Thr450fs Single submitter adenylosuccinate lyase deficiency
- p.Trp326Ter Single submitter adenylosuccinate lyase deficiency
- p.Trp45Ter Single submitter adenylosuccinate lyase deficiency
- p.Met225Thr No assertion criteria adenylosuccinate lyase deficiency ⚠
- p.Pro100Ala No assertion criteria adenylosuccinate lyase deficiency ⚠
- p.Ser438Pro No assertion criteria adenylosuccinate lyase deficiency ⚠
Pathogenic/Likely pathogenic 17
- c.1191+5G>C Multiple submitters adenylosuccinate lyase deficiency
- c.-49T>C Multiple submitters Inborn genetic diseases
- p.Arg141Trp Multiple submitters Progressive neurologic deterioration
- p.Arg149Ter Multiple submitters adenylosuccinate lyase deficiency
- p.Arg190Gln Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg303Cys Multiple submitters adenylosuccinate lyase deficiency
- p.Arg309His Multiple submitters adenylosuccinate lyase deficiency
- p.Arg396Cys Multiple submitters adenylosuccinate lyase deficiency
- p.Arg396His Multiple submitters adenylosuccinate lyase deficiency
- p.Asp422Tyr Multiple submitters adenylosuccinate lyase deficiency
- p.Gln439Ter Multiple submitters adenylosuccinate lyase deficiency
- p.Lys246Glu Multiple submitters adenylosuccinate lyase deficiency
- p.Pro318Leu Multiple submitters adenylosuccinate lyase deficiency
- p.Ser448del Multiple submitters adenylosuccinate lyase deficiency
- p.Thr242Ile Multiple submitters adenylosuccinate lyase deficiency
- p.Thr450Ser Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Tyr365Ter Multiple submitters adenylosuccinate lyase deficiency
Likely pathogenic 23
- c.402+1G>T Multiple submitters adenylosuccinate lyase deficiency
- p.Val364Met Multiple submitters adenylosuccinate lyase deficiency
- c.1010+1G>C Single submitter adenylosuccinate lyase deficiency
- c.357+1G>A Single submitter adenylosuccinate lyase deficiency
- c.358-1G>C Single submitter adenylosuccinate lyase deficiency
- c.403-1G>C Single submitter adenylosuccinate lyase deficiency
- c.482+1G>C Single submitter adenylosuccinate lyase deficiency
- c.702-2A>G Single submitter adenylosuccinate lyase deficiency
- p.Arg141Pro Single submitter adenylosuccinate lyase deficiency
- p.Arg452Gly Single submitter adenylosuccinate lyase deficiency
- p.Arg452Pro Single submitter adenylosuccinate lyase deficiency
- p.Asp215His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp332His Single submitter adenylosuccinate lyase deficiency
- p.Asp430Asn Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gln375Ter Single submitter
- p.Glu25Lys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gly259Trp Single submitter
- p.Ile386del Single submitter adenylosuccinate lyase deficiency
- p.Leu121Phe Single submitter adenylosuccinate lyase deficiency
- p.Lys199= Single submitter adenylosuccinate lyase deficiency
- p.Met26Ile Single submitter adenylosuccinate lyase deficiency
- p.Tyr114Ser Single submitter adenylosuccinate lyase deficiency
- p.Tyr472His Single submitter ⚠
Conflicting classifications of pathogenicity 44
- c.1011-9G>C Single submitter adenylosuccinate lyase deficiency
- c.1102-6C>G Single submitter adenylosuccinate lyase deficiency
- c.153+1G>T Single submitter adenylosuccinate lyase deficiency
- c.357+6C>T Single submitter adenylosuccinate lyase deficiency
- c.357+7G>A Single submitter adenylosuccinate lyase deficiency
- c.403-4G>A Single submitter adenylosuccinate lyase deficiency
- c.702-7T>C Single submitter adenylosuccinate lyase deficiency
- c.793-5C>A Single submitter adenylosuccinate lyase deficiency
- c.-37C>G Single submitter adenylosuccinate lyase deficiency
- p.Ala136= Single submitter adenylosuccinate lyase deficiency
- p.Ala206Ser Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala2Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala431Thr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala90= Single submitter adenylosuccinate lyase deficiency
- p.Arg188His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg190Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg194Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg194His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg245= Single submitter adenylosuccinate lyase deficiency
- p.Arg296Trp Single submitter Inborn genetic diseases ⚠
- p.Arg371Gln Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg374Trp Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg426Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg83Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gln61His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Glu376Asp Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gly4Ala Single submitter Inborn genetic diseases ⚠
- p.His400= Single submitter adenylosuccinate lyase deficiency
- p.His7Arg Single submitter Inborn genetic diseases ⚠
- p.Ile287Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ile427Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Leu121= Single submitter adenylosuccinate lyase deficiency
- p.Leu193= Single submitter adenylosuccinate lyase deficiency
- p.Leu255= Single submitter adenylosuccinate lyase deficiency
- p.Lys147Glu Single submitter Inborn genetic diseases ⚠
- p.Met299Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Pro24Leu Single submitter Inborn genetic diseases ⚠
- p.Pro281Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Pro446His Single submitter Inborn genetic diseases ⚠
- p.Pro467Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser447Pro Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser448Pro Single submitter Inborn genetic diseases ⚠
- p.Val168Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val363Ala Single submitter adenylosuccinate lyase deficiency ⚠
Benign 28
- c.1010+18A>G Multiple submitters adenylosuccinate lyase deficiency
- c.1101+233A>G Multiple submitters
- c.1192-59T>G Multiple submitters
- c.153+116A>G Multiple submitters
- c.357+111T>C Multiple submitters
- c.357+172T>C Multiple submitters
- c.357+173C>T Multiple submitters
- c.357+238A>G Multiple submitters
- c.358-4G>A Multiple submitters adenylosuccinate lyase deficiency
- c.402+281C>T Multiple submitters
- c.483-41_483-38del Multiple submitters
- c.701+113A>G Multiple submitters
- c.792+148A>C Multiple submitters
- c.793-49A>C Multiple submitters
- p.Ile72= Multiple submitters adenylosuccinate lyase deficiency
- p.Leu42= Multiple submitters adenylosuccinate lyase deficiency
- p.Lys147Met Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Tyr294His Multiple submitters adenylosuccinate lyase deficiency
- c.1011-5del Single submitter adenylosuccinate lyase deficiency
- c.1102-190dup Single submitter
- c.153+206C>T Single submitter
- c.153+274T>C Single submitter
- c.357+112dup Single submitter
- c.403-101C>T Single submitter
- c.482+281T>C Single submitter
- c.792+246dup Single submitter
- c.863-11dup Single submitter adenylosuccinate lyase deficiency
- c.-23C>T Single submitter adenylosuccinate lyase deficiency
Benign/Likely benign 4
- c.1102-18C>G Multiple submitters adenylosuccinate lyase deficiency
- p.His217Asp Multiple submitters adenylosuccinate lyase deficiency
- p.Ser9= Multiple submitters adenylosuccinate lyase deficiency
- p.Val189= Multiple submitters adenylosuccinate lyase deficiency
Likely benign 212
- c.1010+45C>G Multiple submitters
- c.1101+158T>C Multiple submitters
- c.1102-16G>A Multiple submitters adenylosuccinate lyase deficiency
- c.1191+11C>A Multiple submitters adenylosuccinate lyase deficiency
- c.1191+9C>T Multiple submitters adenylosuccinate lyase deficiency
- c.1192-5C>T Multiple submitters adenylosuccinate lyase deficiency
- c.1368+8del Multiple submitters adenylosuccinate lyase deficiency
- c.1369-17T>C Multiple submitters adenylosuccinate lyase deficiency
- c.1369-7C>G Multiple submitters adenylosuccinate lyase deficiency
- c.153+7G>A Multiple submitters adenylosuccinate lyase deficiency
- c.154-9A>G Multiple submitters adenylosuccinate lyase deficiency
- c.358-5C>T Multiple submitters adenylosuccinate lyase deficiency
- c.792+8G>T Multiple submitters adenylosuccinate lyase deficiency
- c.863-11T>C Multiple submitters adenylosuccinate lyase deficiency
- c.863-20T>G Multiple submitters adenylosuccinate lyase deficiency
- p.Ala3= Multiple submitters adenylosuccinate lyase deficiency
- p.Ala342= Multiple submitters adenylosuccinate lyase deficiency
- p.Arg14= Multiple submitters adenylosuccinate lyase deficiency
- p.Ile424= Multiple submitters
- p.Thr38= Multiple submitters adenylosuccinate lyase deficiency
- p.Val363= Multiple submitters adenylosuccinate lyase deficiency
- c.1011-13A>G Single submitter adenylosuccinate lyase deficiency
- c.1011-17G>A Single submitter adenylosuccinate lyase deficiency
- c.1011-18T>C Single submitter adenylosuccinate lyase deficiency
- c.1011-23_1011-20del Single submitter
- c.1101+10C>A Single submitter adenylosuccinate lyase deficiency
- c.1101+10C>T Single submitter adenylosuccinate lyase deficiency
- c.1102-12C>G Single submitter adenylosuccinate lyase deficiency
- c.1102-14A>G Single submitter adenylosuccinate lyase deficiency
- c.1102-15dup Single submitter adenylosuccinate lyase deficiency
- c.1102-16G>T Single submitter adenylosuccinate lyase deficiency
- c.1102-17C>T Single submitter adenylosuccinate lyase deficiency
- c.1102-19A>G Single submitter adenylosuccinate lyase deficiency
- c.1102-230C>T Single submitter
- c.1102-4A>G Single submitter adenylosuccinate lyase deficiency
- c.1102-77T>G Single submitter
- c.1102-7C>T Single submitter adenylosuccinate lyase deficiency
- c.1191+10C>G Single submitter adenylosuccinate lyase deficiency
- c.1191+12C>T Single submitter adenylosuccinate lyase deficiency
- c.1191+12dup Single submitter adenylosuccinate lyase deficiency
- c.1191+16T>A Single submitter adenylosuccinate lyase deficiency
- c.1191+16T>C Single submitter
- c.1191+17G>A Single submitter adenylosuccinate lyase deficiency
- c.1191+8A>T Single submitter adenylosuccinate lyase deficiency
- c.1192-11T>C Single submitter adenylosuccinate lyase deficiency
- c.1192-12C>T Single submitter adenylosuccinate lyase deficiency
- c.1192-20A>C Single submitter adenylosuccinate lyase deficiency
- c.1192-20A>G Single submitter adenylosuccinate lyase deficiency
- c.1368+10C>T Single submitter adenylosuccinate lyase deficiency
- c.1368+13_1368+22del Single submitter adenylosuccinate lyase deficiency
- c.1368+14A>C Single submitter adenylosuccinate lyase deficiency
- c.1368+18C>T Single submitter adenylosuccinate lyase deficiency
- c.1369-19A>G Single submitter adenylosuccinate lyase deficiency
- c.153+10C>A Single submitter adenylosuccinate lyase deficiency
- c.153+10C>G Single submitter adenylosuccinate lyase deficiency
- c.153+11C>G Single submitter
- c.153+12C>T Single submitter adenylosuccinate lyase deficiency
- c.153+15G>A Single submitter adenylosuccinate lyase deficiency
- c.153+16C>G Single submitter adenylosuccinate lyase deficiency
- c.153+17T>C Single submitter adenylosuccinate lyase deficiency
- c.153+18G>A Single submitter adenylosuccinate lyase deficiency
- c.153+19A>G Single submitter adenylosuccinate lyase deficiency
- c.153+7G>C Single submitter adenylosuccinate lyase deficiency
- c.154-12C>T Single submitter adenylosuccinate lyase deficiency
- c.154-4G>A Single submitter adenylosuccinate lyase deficiency
- c.154-7del Single submitter adenylosuccinate lyase deficiency
- c.357+10T>G Single submitter adenylosuccinate lyase deficiency
- c.357+112del Single submitter
- c.357+15_357+22dup Single submitter adenylosuccinate lyase deficiency
- c.357+7G>C Single submitter adenylosuccinate lyase deficiency
- c.357+7G>T Single submitter adenylosuccinate lyase deficiency
- c.358-9C>T Single submitter adenylosuccinate lyase deficiency
- c.402+12G>C Single submitter adenylosuccinate lyase deficiency
- c.402+157TTC[2] Single submitter
- c.402+15G>A Single submitter adenylosuccinate lyase deficiency
- c.402+18G>A Single submitter adenylosuccinate lyase deficiency
- c.402+8G>T Single submitter adenylosuccinate lyase deficiency
- c.403-11C>T Single submitter
- c.403-16A>G Single submitter adenylosuccinate lyase deficiency
- c.403-21_403-6del Single submitter adenylosuccinate lyase deficiency
- c.403-5T>C Single submitter adenylosuccinate lyase deficiency
- c.403-7C>A Single submitter adenylosuccinate lyase deficiency
- c.403-7C>T Single submitter adenylosuccinate lyase deficiency
- c.403-7del Single submitter adenylosuccinate lyase deficiency
- c.482+16A>C Single submitter adenylosuccinate lyase deficiency
- c.482+16A>G Single submitter adenylosuccinate lyase deficiency
- c.482+16A>T Single submitter adenylosuccinate lyase deficiency
- c.482+17C>T Single submitter adenylosuccinate lyase deficiency
- c.482+9T>A Single submitter adenylosuccinate lyase deficiency
- c.482+9T>C Single submitter adenylosuccinate lyase deficiency
- c.483-13T>C Single submitter adenylosuccinate lyase deficiency
- c.483-14C>T Single submitter adenylosuccinate lyase deficiency
- c.483-15T>C Single submitter
- c.483-19G>A Single submitter adenylosuccinate lyase deficiency
- c.483-226G>A Single submitter
- c.655-11T>G Single submitter adenylosuccinate lyase deficiency
- c.655-14C>A Single submitter adenylosuccinate lyase deficiency
- c.655-16G>C Single submitter adenylosuccinate lyase deficiency
- c.655-9C>G Single submitter adenylosuccinate lyase deficiency
- c.701+16T>A Single submitter adenylosuccinate lyase deficiency
- c.701+17G>A Single submitter adenylosuccinate lyase deficiency
- c.701+7A>C Single submitter adenylosuccinate lyase deficiency
- c.702-15T>C Single submitter adenylosuccinate lyase deficiency
- c.702-19C>G Single submitter adenylosuccinate lyase deficiency
- c.702-5C>G Single submitter adenylosuccinate lyase deficiency
- c.702-7T>A Single submitter adenylosuccinate lyase deficiency
- c.792+15C>T Single submitter adenylosuccinate lyase deficiency
- c.792+17T>C Single submitter adenylosuccinate lyase deficiency
- c.792+18G>C Single submitter adenylosuccinate lyase deficiency
- c.793-11A>G Single submitter adenylosuccinate lyase deficiency
- c.793-13C>T Single submitter adenylosuccinate lyase deficiency
- c.793-19A>C Single submitter adenylosuccinate lyase deficiency
- c.793-4C>T Single submitter adenylosuccinate lyase deficiency
- c.862+10G>A Single submitter adenylosuccinate lyase deficiency
- c.862+13T>C Single submitter adenylosuccinate lyase deficiency
- c.862+14A>G Single submitter adenylosuccinate lyase deficiency
- c.862+9T>C Single submitter adenylosuccinate lyase deficiency
- c.863-12T>C Single submitter adenylosuccinate lyase deficiency
- c.863-18C>T Single submitter adenylosuccinate lyase deficiency
- c.863-8A>G Single submitter
- c.-8G>A Single submitter
- c.*20G>A Single submitter
- p.Ala143= Single submitter adenylosuccinate lyase deficiency
- p.Ala146= Single submitter adenylosuccinate lyase deficiency
- p.Ala18= Single submitter adenylosuccinate lyase deficiency
- p.Ala260= Single submitter adenylosuccinate lyase deficiency
- p.Ala291= Single submitter adenylosuccinate lyase deficiency
- p.Ala335= Single submitter adenylosuccinate lyase deficiency
- p.Ala453= Single submitter adenylosuccinate lyase deficiency
- p.Arg196Leu Single submitter adenylosuccinate lyase deficiency
- p.Arg20= Single submitter adenylosuccinate lyase deficiency
- p.Arg371= Single submitter adenylosuccinate lyase deficiency
- p.Arg374= Single submitter adenylosuccinate lyase deficiency
- p.Arg85= Single submitter adenylosuccinate lyase deficiency
- p.Asn185= Single submitter adenylosuccinate lyase deficiency
- p.Asn357= Single submitter adenylosuccinate lyase deficiency
- p.Asn384= Single submitter adenylosuccinate lyase deficiency
- p.Asp192Glu Single submitter adenylosuccinate lyase deficiency
- p.Asp248= Single submitter adenylosuccinate lyase deficiency
- p.Asp268= Single submitter adenylosuccinate lyase deficiency
- p.Asp32= Single submitter adenylosuccinate lyase deficiency
- p.Asp333= Single submitter adenylosuccinate lyase deficiency
- p.Asp420= Single submitter adenylosuccinate lyase deficiency
- p.Asp422= Single submitter adenylosuccinate lyase deficiency
- p.Gln375= Single submitter adenylosuccinate lyase deficiency
- p.Gln439= Single submitter adenylosuccinate lyase deficiency
- p.Gln63= Single submitter adenylosuccinate lyase deficiency
- p.Glu228= Single submitter adenylosuccinate lyase deficiency
- p.Glu25= Single submitter
- p.Glu250= Single submitter adenylosuccinate lyase deficiency
- p.Glu277= Single submitter adenylosuccinate lyase deficiency
- p.Glu279= Single submitter adenylosuccinate lyase deficiency
- p.Glu343= Single submitter adenylosuccinate lyase deficiency
- p.Glu360= Single submitter adenylosuccinate lyase deficiency
- p.Glu376= Single submitter adenylosuccinate lyase deficiency
- p.Gly169= Single submitter adenylosuccinate lyase deficiency
- p.Gly5= Single submitter adenylosuccinate lyase deficiency
- p.His263= Single submitter adenylosuccinate lyase deficiency
- p.His91= Single submitter adenylosuccinate lyase deficiency
- p.Ile139= Single submitter adenylosuccinate lyase deficiency
- p.Ile176= Single submitter adenylosuccinate lyase deficiency
- p.Leu131= Single submitter adenylosuccinate lyase deficiency
- p.Leu155= Single submitter adenylosuccinate lyase deficiency
- p.Leu17= Single submitter adenylosuccinate lyase deficiency
- p.Leu186= Single submitter
- p.Leu209= Single submitter adenylosuccinate lyase deficiency
- p.Leu211= Single submitter adenylosuccinate lyase deficiency
- p.Leu252= Single submitter adenylosuccinate lyase deficiency
- p.Leu272= Single submitter adenylosuccinate lyase deficiency
- p.Leu352= Single submitter adenylosuccinate lyase deficiency
- p.Leu423= Single submitter adenylosuccinate lyase deficiency
- p.Leu44= Single submitter adenylosuccinate lyase deficiency
- p.Leu440= Single submitter adenylosuccinate lyase deficiency
- p.Leu46= Single submitter adenylosuccinate lyase deficiency
- p.Leu461= Single submitter adenylosuccinate lyase deficiency
- p.Leu482= Single submitter adenylosuccinate lyase deficiency
- p.Leu484= Single submitter adenylosuccinate lyase deficiency
- p.Lys295= Single submitter adenylosuccinate lyase deficiency
- p.Lys75= Single submitter adenylosuccinate lyase deficiency
- p.Phe145= Single submitter adenylosuccinate lyase deficiency
- p.Phe160= Single submitter adenylosuccinate lyase deficiency
- p.Phe212= Single submitter adenylosuccinate lyase deficiency
- p.Phe236= Single submitter adenylosuccinate lyase deficiency
- p.Phe460= Single submitter adenylosuccinate lyase deficiency
- p.Pro10= Single submitter adenylosuccinate lyase deficiency
- p.Pro24= Single submitter adenylosuccinate lyase deficiency
- p.Pro281= Single submitter adenylosuccinate lyase deficiency
- p.Pro293= Single submitter adenylosuccinate lyase deficiency
- p.Pro298= Single submitter adenylosuccinate lyase deficiency
- p.Pro318= Single submitter adenylosuccinate lyase deficiency
- p.Pro446= Single submitter adenylosuccinate lyase deficiency
- p.Pro471= Single submitter adenylosuccinate lyase deficiency
- p.Ser19= Single submitter adenylosuccinate lyase deficiency
- p.Ser207= Single submitter adenylosuccinate lyase deficiency
- p.Ser290= Single submitter adenylosuccinate lyase deficiency
- p.Ser438= Single submitter adenylosuccinate lyase deficiency
- p.Ser474= Single submitter adenylosuccinate lyase deficiency
- p.Thr154= Single submitter adenylosuccinate lyase deficiency
- p.Thr158= Single submitter adenylosuccinate lyase deficiency
- p.Thr267= Single submitter adenylosuccinate lyase deficiency
- p.Thr330= Single submitter adenylosuccinate lyase deficiency
- p.Thr347= Single submitter adenylosuccinate lyase deficiency
- p.Thr354= Single submitter adenylosuccinate lyase deficiency
- p.Thr450= Single submitter adenylosuccinate lyase deficiency
- p.Thr94= Single submitter adenylosuccinate lyase deficiency
- p.Tyr114= Single submitter adenylosuccinate lyase deficiency
- p.Tyr13= Single submitter adenylosuccinate lyase deficiency
- p.Tyr472= Single submitter adenylosuccinate lyase deficiency
- p.Val138= Single submitter adenylosuccinate lyase deficiency
- p.Val364= Single submitter adenylosuccinate lyase deficiency
- p.Val368= Single submitter adenylosuccinate lyase deficiency
- p.Leu341Ser No assertion criteria intellectual disability
Uncertain significance 262
- c.482+8A>G Multiple submitters adenylosuccinate lyase deficiency
- c.-35G>T Multiple submitters adenylosuccinate lyase deficiency
- p.Ala103Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala136Thr Multiple submitters ⚠
- p.Ala206Gly Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ala348Thr Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ala3Thr Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ala480Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg14Cys Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg196Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg245Gln Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg270Cys Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg296Gln Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg300His Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg300Ser Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg309Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg329His Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg371Trp Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg372His Multiple submitters Inborn genetic diseases ⚠
- p.Arg374Gln Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg452His Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Arg85Gln Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Asn126Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn421Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp11Val Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Asp6His Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Asp73Asn Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Cys305Gly Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Gln161Arg Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Gln286Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln455His Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Gly288Ala Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Gly361Arg Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Gly418Glu Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Gly419Val Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Gly4Val Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Gly54Asp Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.His91Tyr Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ile269Val Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ile339Asn Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ile369Leu Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ile369Thr Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ile403Leu Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Lys66Ile Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Lys75Arg Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Met181Val Multiple submitters Inborn genetic diseases ⚠
- p.Met299Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met380Val Multiple submitters Inborn genetic diseases ⚠
- p.Met389Ile Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ser412Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser447Phe Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Ter485Trp Multiple submitters adenylosuccinate lyase deficiency
- p.Thr321Ile Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Thr354Ala Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Thr354Met Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Tyr34Cys Multiple submitters adenylosuccinate lyase deficiency ⚠
- p.Val88Ala Multiple submitters adenylosuccinate lyase deficiency ⚠
- c.1011-3T>C Single submitter adenylosuccinate lyase deficiency
- c.1101+6_1101+8del Single submitter adenylosuccinate lyase deficiency
- c.1368+3A>G Single submitter
- c.1368+4A>C Single submitter adenylosuccinate lyase deficiency
- c.357+4G>A Single submitter adenylosuccinate lyase deficiency
- c.402+6G>A Single submitter adenylosuccinate lyase deficiency
- c.403-3T>C Single submitter adenylosuccinate lyase deficiency
- c.482+3A>T Single submitter adenylosuccinate lyase deficiency
- c.482+5G>A Single submitter
- c.655-42_655-8del Single submitter adenylosuccinate lyase deficiency
- c.701+3A>G Single submitter adenylosuccinate lyase deficiency
- c.702-3T>A Single submitter adenylosuccinate lyase deficiency
- c.792+5G>C Single submitter adenylosuccinate lyase deficiency
- c.792+6T>C Single submitter adenylosuccinate lyase deficiency
- c.793-3C>T Single submitter adenylosuccinate lyase deficiency
- c.-10C>G Single submitter adenylosuccinate lyase deficiency
- c.-11G>T Single submitter adenylosuccinate lyase deficiency
- c.-12C>T Single submitter adenylosuccinate lyase deficiency
- c.-15G>A Single submitter adenylosuccinate lyase deficiency
- c.-18C>A Single submitter adenylosuccinate lyase deficiency
- c.-20G>T Single submitter adenylosuccinate lyase deficiency
- c.-21T>A Single submitter adenylosuccinate lyase deficiency
- c.-22C>T Single submitter
- c.-27C>A Single submitter adenylosuccinate lyase deficiency
- c.-29G>C Single submitter adenylosuccinate lyase deficiency
- c.-31C>T Single submitter adenylosuccinate lyase deficiency
- c.-32C>T Single submitter adenylosuccinate lyase deficiency
- c.-35G>A Single submitter
- c.-35G>C Single submitter adenylosuccinate lyase deficiency
- c.-37C>T Single submitter adenylosuccinate lyase deficiency
- c.-44C>G Single submitter adenylosuccinate lyase deficiency
- c.-50C>G Single submitter
- c.-51G>A Single submitter adenylosuccinate lyase deficiency
- c.-56T>A Single submitter adenylosuccinate lyase deficiency
- c.*45A>T Single submitter adenylosuccinate lyase deficiency
- p.Ala102Ser Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala110Thr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala136Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala150Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala206= Single submitter adenylosuccinate lyase deficiency
- p.Ala260Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala273Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala291Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala3Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala411Thr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala453Asp Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala47Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ala49Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg149Gln Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg14Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg14Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg171Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg171His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg188Cys Single submitter ⚠
- p.Arg196Trp Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg270His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg300Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg303His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg329Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg33= Single submitter adenylosuccinate lyase deficiency
- p.Arg338Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg33Lys Single submitter Inborn genetic diseases ⚠
- p.Arg372Ser Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg404Ser Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg452Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Arg83His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asn274Asp Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asn297Lys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asn336Lys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asn421del Single submitter adenylosuccinate lyase deficiency
- p.Asp11His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp129Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp144Asn Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp191Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp192Tyr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp215Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp32Tyr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp420Asn Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp59Asn Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp59Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Asp6Glu Single submitter Inborn genetic diseases ⚠
- p.Asp6Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Cys483Arg Single submitter ⚠
- p.Cys483Tyr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gln161His Single submitter Inborn genetic diseases ⚠
- p.Gln285Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gln285Glu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gln325Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gln409Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gln456= Single submitter adenylosuccinate lyase deficiency
- p.Gln456fs Single submitter adenylosuccinate lyase deficiency
- p.Gln458fs Single submitter adenylosuccinate lyase deficiency
- p.Gln51= Single submitter adenylosuccinate lyase deficiency
- p.Glu213Asp Single submitter adenylosuccinate lyase deficiency ⚠
- p.Glu343Lys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Glu464Val Single submitter ⚠
- p.Glu481Asp Single submitter adenylosuccinate lyase deficiency ⚠
- p.Glu48Lys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Glu60Ala Single submitter adenylosuccinate lyase deficiency ⚠
- p.Glu80Asp Single submitter ⚠
- p.Glu81Gly Single submitter Inborn genetic diseases ⚠
- p.Gly116Glu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gly197Glu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gly203Asp Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gly418Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Gly4Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.His107Tyr Single submitter adenylosuccinate lyase deficiency ⚠
- p.His159Tyr Single submitter adenylosuccinate lyase deficiency ⚠
- p.His217Tyr Single submitter adenylosuccinate lyase deficiency ⚠
- p.His442Pro Single submitter ⚠
- p.His7Asp Single submitter adenylosuccinate lyase deficiency ⚠
- p.His86Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.His86Gln Single submitter adenylosuccinate lyase deficiency ⚠
- p.His86Pro Single submitter adenylosuccinate lyase deficiency ⚠
- p.His91Asn Single submitter Inborn genetic diseases ⚠
- p.His91Asp Single submitter adenylosuccinate lyase deficiency ⚠
- p.His93Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ile105Met Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ile122Met Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ile176Thr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ile238Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ile351Met Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ile351Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ile373Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ile72Met Single submitter adenylosuccinate lyase deficiency ⚠
- p.Leu124Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Leu155Ser Single submitter adenylosuccinate lyase deficiency ⚠
- p.Leu17Phe Single submitter adenylosuccinate lyase deficiency ⚠
- p.Leu193Pro Single submitter adenylosuccinate lyase deficiency ⚠
- p.Leu211His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Leu258Phe Single submitter Inborn genetic diseases ⚠
- p.Leu275Phe Single submitter ⚠
- p.Leu307Phe Single submitter adenylosuccinate lyase deficiency ⚠
- p.Leu469Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Leu69Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Lys276Asn Single submitter ⚠
- p.Lys66Thr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Lys82Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Lys82Gln Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met181Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met181Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met278Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met292Val Single submitter Inborn genetic diseases ⚠
- p.Met312Leu Single submitter Inborn genetic diseases ⚠
- p.Met316Thr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met316Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met380Ile Single submitter Inborn genetic diseases ⚠
- p.Met387Val Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met476Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met76Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met76Thr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Met76Val Single submitter ⚠
- p.Phe208Tyr Single submitter adenylosuccinate lyase deficiency ⚠
- p.Phe232Val Single submitter Inborn genetic diseases ⚠
- p.Phe282Ser Single submitter adenylosuccinate lyase deficiency ⚠
- p.Phe327Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Pro10Ala Single submitter adenylosuccinate lyase deficiency ⚠
- p.Pro16Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Pro16Ser Single submitter adenylosuccinate lyase deficiency ⚠
- p.Pro281Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Pro366Ala Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser12Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser151Arg Single submitter ⚠
- p.Ser151Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser19Cys Single submitter ⚠
- p.Ser19Phe Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser253_Leu255del Single submitter adenylosuccinate lyase deficiency
- p.Ser257Asn Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser257Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser290Asn Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser306Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser448Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Ser474Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Thr119= Single submitter adenylosuccinate lyase deficiency
- p.Thr204Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Thr204Ser Single submitter adenylosuccinate lyase deficiency ⚠
- p.Thr382Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Thr38Arg Single submitter ⚠
- p.Thr450Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Thr52Lys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Thr58Arg Single submitter adenylosuccinate lyase deficiency ⚠
- p.Thr94Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Trp326Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Trp43Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Tyr21Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Tyr294Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr34His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Tyr365His Single submitter adenylosuccinate lyase deficiency ⚠
- p.Tyr432Cys Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val219Ile Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val219Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val247Met Single submitter Inborn genetic diseases ⚠
- p.Val262Ala Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val29Glu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val315Gly Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val414Phe Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val429Ala Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val457Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val465Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val475Met Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val478_Lys479del Single submitter adenylosuccinate lyase deficiency
- p.Val88Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val92Leu Single submitter adenylosuccinate lyase deficiency ⚠
- p.Val92Met Single submitter adenylosuccinate lyase deficiency ⚠
- p.Thr347Asn No assertion criteria ADSL-related disorder ⚠