AHCY — 331 ClinVar variants
All ClinVar germline AHCY variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →
5 Pathogenic · 4 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 21 Conflicting · 15 Benign · 4 Benign/Likely benign · 138 Likely benign · 134 Uncertain significance
Full AHCY gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 134
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AHCY p.Arg49Cys
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
AHCY p.Tyr143Cys
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
AHCY p.Glu108Lys
Likely pathogenic
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AHCY p.Ala89Val
Conflicting
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg334His
Conflicting
Single submitter
Inborn genetic diseases
-
AHCY p.Arg34Cys
Conflicting
Single submitter
Inborn genetic diseases
-
AHCY p.Thr410Ser
Conflicting
Single submitter
Inborn genetic diseases
-
AHCY p.Tyr328Asp
Conflicting
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AHCY p.Ala397Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AHCY p.Gly342Val Uncertain significance Multiple submitters
-
AHCY p.Lys378Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Lys378Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Tyr257His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Ala16Pro
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala368Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala51Ser
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala88Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg196Trp
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg329Gln
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg335His
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg431His
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Asn270Asp
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Asn314Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Asp428Asn
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Cys349Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Gln289Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Glu156Asp
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Glu243Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Glu28Lys
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Glu396Asp
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Glu59Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Gly132Arg
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Gly220Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Gly236Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.His375Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AHCY p.Ile128Phe Uncertain significance Single submitter
-
AHCY p.Ile244Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AHCY p.Ile279Asn Uncertain significance Single submitter
-
AHCY p.Ile281Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ile306Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Leu125Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Leu67Phe
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Met358Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- AHCY p.Phe425Val Uncertain significance Single submitter
-
AHCY p.Pro387Leu
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ser187Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Thr60Ala
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Thr69Asn
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Trp112Leu
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Tyr193Cys
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Tyr221Cys
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Val184Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Val366Met
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Predictors split 81
The independent predictors disagree with each other — read with care.
-
AHCY p.Ala15Thr
Uncertain significance
Multiple submitters
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala21Thr
Uncertain significance
Multiple submitters
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg233Trp
Uncertain significance
Multiple submitters
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg238Cys
Uncertain significance
Multiple submitters
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg327Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Arg327Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Arg334Cys
Uncertain significance
Multiple submitters
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg38Trp
Benign/Likely benign
Multiple submitters
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Asp23His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Glu37Val
Uncertain significance
Multiple submitters
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Gly123Arg
Likely benign
Multiple submitters
Inborn genetic diseases
-
AHCY p.Ile337Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Lys408Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Met35Thr
Uncertain significance
Multiple submitters
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Pro427Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Pro98Leu
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
AHCY p.Thr106Met
Uncertain significance
Multiple submitters
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Val316Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Val58Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Val62Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AHCY p.Ala216Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala229Thr
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala265Thr
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala315Ser
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala315Thr
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala340Gly
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ala48Thr
Conflicting
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg151Gln
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg205Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Arg233Gln
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg238His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Arg285Gln
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg285Trp
Conflicting
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg329Trp
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg335Cys
Likely benign
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Arg49His
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Asp122Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Asp122Glu
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Asp292Gly
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Asp428Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AHCY p.Glu108Gln Uncertain significance Single submitter
-
AHCY p.Glu258Ala
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Glu268Lys
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Glu313Lys
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- AHCY p.Gly47Ser Uncertain significance Single submitter
-
AHCY p.Ile12Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ile153Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ile240Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ile244Thr
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- AHCY p.Ile247Val Uncertain significance Single submitter
-
AHCY p.Ile24Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ile295Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ile299Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Ile81Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Ile92Val
Conflicting
Single submitter
Inborn genetic diseases
-
AHCY p.Leu192Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Leu409Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Lys166Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Lys174Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Lys309Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Lys408Met
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Lys46Thr
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Met33Val
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Pro144Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Pro148Leu
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Pro176Ser
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Pro376Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Pro376Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Ser2Tyr
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Thr117Asn
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Thr159Ala
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Thr261Ala
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Tyr193Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Val239Ile
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Val304Leu
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Val304Met
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Val381Ala
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Val404Met
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Val58Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AHCY p.Val68Ile
Uncertain significance
Single submitter
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
-
AHCY p.Val217Met
Pathogenic
No assertion criteria
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
All AHCY variants
Pathogenic 5
- p.Arg49fs Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile295fs Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Thr57Ile No assertion criteria hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Trp112Ter No assertion criteria hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Val217Met No assertion criteria hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
Pathogenic/Likely pathogenic 4
- p.Arg49Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp86Gly Multiple submitters Inborn genetic diseases
- p.Pro98Leu Multiple submitters Inborn genetic diseases ⚠
- p.Tyr143Cys Multiple submitters Inborn genetic diseases ⚠
Likely pathogenic 10
- c.28+2T>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.558+1_558+2delinsCG Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.972+1G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala89Gly Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Arg36Trp Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asp3fs Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Glu108Lys Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Glu255fs Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Leu125fs Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Thr158Met Single submitter Inborn genetic diseases
Conflicting classifications of pathogenicity 21
- c.1168-5C>T Single submitter Inborn genetic diseases
- c.219+7C>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.219+8C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.29-4G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.29-5C>T Single submitter Inborn genetic diseases
- c.445+11C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.855-8C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.-34C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala48Thr Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala89Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg285Trp Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg334His Single submitter Inborn genetic diseases ⚠
- p.Arg34Cys Single submitter Inborn genetic diseases ⚠
- p.Asn312= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asp130= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gly213= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile306= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile336= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile92Val Single submitter Inborn genetic diseases ⚠
- p.Thr410Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr328Asp Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
Benign 15
- c.1168-14T>C Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.1168-64C>G Multiple submitters
- c.28+1345G>A Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.446-147C>T Multiple submitters
- c.767-37C>G Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.973-7C>T Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.-56-7809C>A Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.*301T>G Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.28+17G>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.28+20del Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.854+19dup Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.972+143C>T Single submitter
- c.973-154G>A Single submitter
- c.973-179C>T Single submitter
- c.*679A>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Benign/Likely benign 4
- c.28+7C>T Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Arg38Trp Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Asn248= Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Tyr221= Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Likely benign 138
- c.29-16C>T Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Arg238= Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Cys421Arg Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gly123Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile12= Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.1167+14_1167+16del Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.1168-16C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.1168-6C>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.1168-9T>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.219+13G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.219+15T>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.219+18A>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.220-4C>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.28+11G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.28+14C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.28+15C>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.28+18C>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.29-10C>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.29-15T>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.29-20C>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.295+11C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.295+8C>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.296-12C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.296-13A>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.296-17T>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.296-4C>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.296-8C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.445+11C>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.445+12G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.445+17A>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.446-13C>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.446-17T>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.558+13G>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.558+20C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.559-12C>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.559-12C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.559-13_559-12dup Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.559-5T>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.559-7C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.766+13A>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.766+14A>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.766+20G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.766+7T>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.767-8_767-7del Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.854+14G>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.854+17G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.854+18G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.855-5G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.855-9G>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.972+13C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.972+14G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.972+8G>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.973-10C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.973-17G>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.973-17G>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.973-6G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.973-6G>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala21= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala212= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala216= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala294= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala315= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala368= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala88= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala89= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala91= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Arg151= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Arg327= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Arg329= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Arg335Cys Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg34= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Arg343= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Arg38= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asn27= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asn314= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asn360= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asp107= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asp122= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asp131= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asp182= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Asp190= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gln230= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gln369= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gln85= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Glu108= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Glu288= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gly13= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gly133= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gly160= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gly277= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Gly47= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.His140= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.His301= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile24= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile240= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile321= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile337= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile370= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ile50= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Leu135= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Leu173= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Leu22= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Leu339= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Leu347= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Leu372= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Leu67= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Lys103= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Lys318= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Lys322= Single submitter
- p.Lys405= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Lys412= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Lys43= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Phe235= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Phe272= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Phe356= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Phe362= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Phe82= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Pro144= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Pro30= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Pro323= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Pro354= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Pro380= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Pro427= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Pro6= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ser183= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ser40= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Thr106= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Thr157= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Thr158= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Thr274= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Thr275= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Thr363= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Thr57= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Val184= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Val308= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Val345= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Val99= Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala340= No assertion criteria AHCY-related disorder
Uncertain significance 134
- c.-63A>G Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.*181C>T Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala15Thr Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala21Thr Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala397Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg233Trp Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg238Cys Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg327Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg327Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg334Cys Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Asp23His Multiple submitters Inborn genetic diseases ⚠
- p.Glu37Val Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Gly342Val Multiple submitters ⚠
- p.Ile337Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys378Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys378Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys408Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met35Thr Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Pro427Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr106Met Multiple submitters hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Tyr257His Multiple submitters Inborn genetic diseases ⚠
- p.Val316Met Multiple submitters Inborn genetic diseases ⚠
- p.Val58Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val62Ile Multiple submitters Inborn genetic diseases ⚠
- c.1167+15C>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.558+4_558+27del Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.559-13C>G Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.-40C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.-50A>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.*112G>A Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.*417A>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.*427T>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.*583G>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.*621T>C Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- c.*678C>T Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Ala16Pro Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala216Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala229Thr Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala265Thr Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala315Ser Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala315Thr Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala340Gly Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala368Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala51Ser Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ala88Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg151Gln Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg196Trp Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg205Gln Single submitter Inborn genetic diseases ⚠
- p.Arg233Gln Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg238His Single submitter Inborn genetic diseases ⚠
- p.Arg285Gln Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg329Gln Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg329Trp Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg335His Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg431His Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Arg49His Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Asn270Asp Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Asn314Ser Single submitter Inborn genetic diseases ⚠
- p.Asp122Asn Single submitter Inborn genetic diseases ⚠
- p.Asp122Glu Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Asp292Gly Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Asp428Asn Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Asp428Gly Single submitter Inborn genetic diseases ⚠
- p.Cys349Ser Single submitter Inborn genetic diseases ⚠
- p.Gln230Ter Single submitter
- p.Gln289Arg Single submitter Inborn genetic diseases ⚠
- p.Glu108Gln Single submitter ⚠
- p.Glu156Asp Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Glu243Lys Single submitter Inborn genetic diseases ⚠
- p.Glu258Ala Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Glu268Lys Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Glu28Lys Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Glu313Lys Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Glu396Asp Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Glu59Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Gly132Arg Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Gly220Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Gly236Arg Single submitter Inborn genetic diseases ⚠
- p.Gly47Ser Single submitter ⚠
- p.His375Arg Single submitter Inborn genetic diseases ⚠
- p.Ile128Phe Single submitter ⚠
- p.Ile12Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ile153Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ile240Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ile244Thr Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ile244Val Single submitter Inborn genetic diseases ⚠
- p.Ile247Val Single submitter ⚠
- p.Ile24Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ile279Asn Single submitter ⚠
- p.Ile281Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ile295Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ile299Thr Single submitter Inborn genetic diseases ⚠
- p.Ile306Phe Single submitter Inborn genetic diseases ⚠
- p.Ile81Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Leu125Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Leu192Phe Single submitter Inborn genetic diseases ⚠
- p.Leu409Val Single submitter Inborn genetic diseases ⚠
- p.Leu67Phe Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Lys166Thr Single submitter Inborn genetic diseases ⚠
- p.Lys174Thr Single submitter Inborn genetic diseases ⚠
- p.Lys309Arg Single submitter Inborn genetic diseases ⚠
- p.Lys408Met Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Lys46Thr Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Met33Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Met358Val Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Phe425Val Single submitter ⚠
- p.Pro144Leu Single submitter Inborn genetic diseases ⚠
- p.Pro148Leu Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Pro176Ser Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Pro376Gln Single submitter Inborn genetic diseases ⚠
- p.Pro376Leu Single submitter Inborn genetic diseases ⚠
- p.Pro387Leu Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Ser187Asn Single submitter Inborn genetic diseases ⚠
- p.Ser2Tyr Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Thr117Asn Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Thr159Ala Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Thr261Ala Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Thr60Ala Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Thr69Asn Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Trp112Leu Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Tyr193Cys Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Tyr193Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr221Cys Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Tyr39fs Single submitter
- p.Tyr432Ter Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- p.Val184Ile Single submitter Inborn genetic diseases ⚠
- p.Val239Ile Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Val304Leu Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Val304Met Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Val366Met Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Val381Ala Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Val404Met Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠
- p.Val58Met Single submitter Inborn genetic diseases ⚠
- p.Val68Ile Single submitter hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ⚠