ALDH7A1 — 1117 ClinVar variants

All ClinVar germline ALDH7A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 304 flagged for review →

86 Pathogenic · 32 Pathogenic/Likely pathogenic · 64 Likely pathogenic · 69 Conflicting · 92 Benign · 18 Benign/Likely benign · 413 Likely benign · 343 Uncertain significance

Full ALDH7A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 304

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.

ALDH7A1 p.Ile191Val Likely pathogenic Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Glu64Asp Likely pathogenic Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro106Thr Likely pathogenic Single submitter
pyridoxine-dependent epilepsy

Predictors agree, ClinVar conflicts 25

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

ALDH7A1 p.Ala177Pro Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Ala321Thr Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala322Val Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg122Pro Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Arg122Trp Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Arg329Lys Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg519Lys Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asn301Ser Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asp511Asn Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Cys211Phe Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gln328Arg Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly283Asp Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly327Ser Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.His339Arg Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile459Thr Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Met517Ile Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro371Leu Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro411Leu Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Ser520Phe Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Thr192Met Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Thr412Ile Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Thr68Asn Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Tyr354His Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Tyr434Cys Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val185Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 125

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ALDH7A1 p.Ala193Thr Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala208Val Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala302Thr Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala7Ser Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg162Lys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg358Gln Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg79Lys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Asn366Lys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Asn449Lys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Gln356Glu Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Gln376Lys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Glu52Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Gly291Trp Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly489Glu Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly494Val Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile226Val Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile247Val Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Ile459Val Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile480Thr Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile524Val Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Leu319Ile Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Met380Val Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Pro25Ser Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro362Ser Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro365Ser Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro5Ser Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser23Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Ser379Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Thr332Ile Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Thr332Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Tyr150Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Val230Ile Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Val409Leu Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala220Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala229Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala26Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala309Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala318Pro Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala318Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala424Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala430Asp Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala78Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala7Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg24Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg48Gly Uncertain significance Single submitter
ALDH7A1 p.Arg506Lys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg6Ser Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg96Gly Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asn484Ser Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asn525Lys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asp119Asn Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asp155Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asp264Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asp310Tyr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asp477His Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asp87Glu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asp87His Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Cys154Arg Uncertain significance Single submitter
ALDH7A1 p.Cys248Tyr Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Gln277Pro Uncertain significance Single submitter
ALDH7A1 p.Glu146Asp Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Glu149Lys Uncertain significance Single submitter
ALDH7A1 p.Glu491Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Glu507Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Glu507Gln Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly145Asp Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly20Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly20Arg Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly219Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly219Arg Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Gly493Ala Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Gly494Ser Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly504Arg Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly63Arg Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.His339Tyr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.His343Tyr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.His425Pro Uncertain significance Single submitter
ALDH7A1 p.Ile153Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile179Met Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile190Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile207Phe Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile303Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile423Val Uncertain significance Single submitter
ALDH7A1 p.Leu178Pro Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Leu18Pro Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Leu216Pro Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Leu319His Uncertain significance Single submitter
ALDH7A1 p.Leu433Phe Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Leu455Pro Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Leu47Phe Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys138Gln Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys14Asn Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys352Asn Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys43Gln Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Met163Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Met285Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Met380Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Phe196Leu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Phe306Ser Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro108Ser Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro21Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro362Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro411Gln Uncertain significance Single submitter
ALDH7A1 p.Ser224Phe Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser23Arg Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser271Cys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser271Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser527Gly Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Thr15Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Thr192Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Trp217Cys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Trp22Cys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Tyr150Phe Uncertain significance Single submitter
ALDH7A1 p.Tyr397Ser Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Tyr408His Uncertain significance Single submitter
ALDH7A1 p.Tyr434Ser Uncertain significance Single submitter
ALDH7A1 p.Val141Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val147Phe Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val185Leu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val228Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val278Leu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val395Gly Uncertain significance Single submitter
ALDH7A1 p.Val481Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val481Leu Uncertain significance Single submitter
ALDH7A1 p.Val92Leu Uncertain significance Single submitter
pyridoxine-dependent epilepsy

Predictors split 151

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 151

ALDH7A1 p.Ala120Asp Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala120Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Ala177Glu Pathogenic/Likely pathogenic Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala206Thr Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala27Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Ala305Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Ala333Val Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala384Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Ala388Gly Uncertain significance Multiple submitters
ALDH7A1-related disorder
ALDH7A1 p.Ala40Gly Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala40Val Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala421Val Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg266Gln Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg266Gly Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg349Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Arg358Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Arg3Cys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg3His Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Arg3Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Arg404Cys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg404His Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg518Lys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg6Cys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg79Gly Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Gln148Glu Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Gln181Arg Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Gln281His Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Gln287Arg Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Glu386Lys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly503Ser Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile164Thr Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile179Thr Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile257Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Ile303Val Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile536Met Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Leu382Phe Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys263Arg Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys437Thr Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys439Gln Benign Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Met261Val Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Met29Val Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro167Leu Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro5Leu Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser19Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Thr15Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Thr276Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Thr412Ala Benign/Likely benign Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Thr415Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Thr523Ala Benign/Likely benign Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Tyr354Cys Pathogenic Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Tyr69Cys Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Val144Met Uncertain significance Multiple submitters
Inborn genetic diseases
ALDH7A1 p.Val483Ile Uncertain significance Multiple submitters
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala12Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala229Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala235Asp Uncertain significance Single submitter
ALDH7A1 p.Ala27Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala377Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala40Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala83Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ala95Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg122Gln Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg3Pro Uncertain significance Single submitter
ALDH7A1 p.Arg469Cys Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Arg469His Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Arg62Trp Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg6Pro Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg81Gln Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Arg81Leu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asn205Asp Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Asn213Asp Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asn241Ser Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asn525Ser Likely pathogenic Single submitter
epilepsy
ALDH7A1 p.Asp256His Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Asp403Asn Uncertain significance Single submitter
ALDH7A1 p.Asp420Tyr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Cys522Ser Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Cys9Tyr Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Gln36His Uncertain significance Single submitter
ALDH7A1 p.Glu50Gly Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Glu50Lys Uncertain significance Single submitter
ALDH7A1 p.Glu75Lys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly118Ala Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Gly143Ala Likely pathogenic Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly165Ala Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly165Val Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly245Ser Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Gly254Glu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly465Asp Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly494Ala Likely pathogenic Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly57Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Gly61Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile233Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile413Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile432Met Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Ile459Met Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile467Thr Uncertain significance Single submitter
ALDH7A1 p.Ile480Val Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Ile492Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ile536Leu Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Ile77Leu Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Ile77Val Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Leu216Phe Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Leu417Phe Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Leu45Met Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Leu471Phe Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Leu4Phe Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Leu8Pro Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys351Glu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys375Arg Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys452Asn Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Lys462Glu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Met163Lys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Met517Leu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Met517Val Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro170Leu Pathogenic Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro170Ser Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Pro221Leu Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Pro25Leu Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Pro473Thr Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser133Cys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser224Cys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser312Arg Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser341Asn Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Ser422Cys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser458Gly Likely pathogenic Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser476Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Ser508Cys Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Ser58Asn Uncertain significance Single submitter
ALDH7A1 p.Thr222Ala Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Thr276Pro Conflicting Single submitter
ALDH7A1 p.Thr325Ala Likely pathogenic Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Thr332Ala Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Thr394Ile Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Thr426Ala Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Thr67Met Conflicting Single submitter
Inborn genetic diseases
ALDH7A1 p.Trp363Arg Uncertain significance Single submitter
ALDH7A1 p.Trp99Arg Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Tyr156Cys Conflicting Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Tyr369Cys Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Tyr88Phe Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val144Leu Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Val151Ala Uncertain significance Single submitter
Inborn genetic diseases
ALDH7A1 p.Val198Ala Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val228Met Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val347Ile Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val385Leu Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val401Ile Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val414Met Uncertain significance Single submitter
pyridoxine-dependent epilepsy
ALDH7A1 p.Val54Met Uncertain significance Single submitter
pyridoxine-dependent epilepsy

All ALDH7A1 variants

Pathogenic 86

c.1093+1G>A Multiple submitters pyridoxine-dependent epilepsy
c.1489+2T>C Multiple submitters pyridoxine-dependent epilepsy
c.1566-1G>T Multiple submitters pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
c.312+1G>T Multiple submitters pyridoxine-dependent epilepsy
c.518-1G>C Multiple submitters pyridoxine-dependent epilepsy
c.871+1G>A Multiple submitters pyridoxine-dependent epilepsy
p.Ala490fs Multiple submitters pyridoxine-dependent epilepsy
p.Arg110Ter Multiple submitters Inborn genetic diseases
p.Arg266Ter Multiple submitters pyridoxine-dependent epilepsy
p.Arg329fs Multiple submitters pyridoxine-dependent epilepsy
p.Arg335Ter Multiple submitters pyridoxine-dependent epilepsy
p.Arg81Ter Multiple submitters pyridoxine-dependent epilepsy
p.Asn195Ser Multiple submitters pyridoxine-dependent epilepsy
p.Cys478Ser Multiple submitters pyridoxine-dependent epilepsy
p.Gln328Ter Multiple submitters pyridoxine-dependent epilepsy
p.Glu427Gly Multiple submitters pyridoxine-dependent epilepsy
p.Glu443Ter Multiple submitters pyridoxine-dependent epilepsy
p.Gly505Arg Multiple submitters pyridoxine-dependent epilepsy
p.Gly63Ter Multiple submitters pyridoxine-dependent epilepsy
p.Ile168fs Multiple submitters pyridoxine-dependent epilepsy
p.Leu471fs Multiple submitters pyridoxine-dependent epilepsy
p.Pro197Ser Multiple submitters Seizure
p.Ser317fs Multiple submitters pyridoxine-dependent epilepsy
p.Trp59Ter Multiple submitters pyridoxine-dependent epilepsy
p.Tyr354Cys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Tyr516Cys Multiple submitters pyridoxine-dependent epilepsy
p.Val65fs Multiple submitters pyridoxine-dependent epilepsy
c.1008+1G>A Single submitter pyridoxine-dependent epilepsy
c.1093+2T>C Single submitter pyridoxine-dependent epilepsy
c.1200+1G>C Single submitter pyridoxine-dependent epilepsy
c.1317+2T>C Single submitter
c.1412_1415+9delinsGTTGGG Single submitter pyridoxine-dependent epilepsy
c.1415+1G>T Single submitter pyridoxine-dependent epilepsy
c.1566-1G>A Single submitter pyridoxine-dependent epilepsy
c.192+1G>A Single submitter
c.312+2T>G Single submitter pyridoxine-dependent epilepsy
c.393+2T>G Single submitter pyridoxine-dependent epilepsy
c.650+2T>C Single submitter pyridoxine-dependent epilepsy
c.651-3_651-1del Single submitter pyridoxine-dependent epilepsy
c.695+2T>G Single submitter pyridoxine-dependent epilepsy
c.696-1G>T Single submitter pyridoxine-dependent epilepsy
c.871+5G>A Single submitter pyridoxine-dependent epilepsy
p.Ala495Thr Single submitter pyridoxine-dependent epilepsy
p.Arg115fs Single submitter pyridoxine-dependent epilepsy
p.Arg79fs Single submitter pyridoxine-dependent epilepsy
p.Cys215Ter Single submitter
p.Gln126Ter Single submitter
p.Gln281fs Single submitter pyridoxine-dependent epilepsy
p.Gln281Ter Single submitter pyridoxine-dependent epilepsy
p.Gln38Ter Single submitter pyridoxine-dependent epilepsy
p.Glu180fs Single submitter pyridoxine-dependent epilepsy
p.Glu44Ter Single submitter pyridoxine-dependent epilepsy
p.Glu450Ter Single submitter pyridoxine-dependent epilepsy
p.Gly111del Single submitter pyridoxine-dependent epilepsy
p.Gly392fs Single submitter pyridoxine-dependent epilepsy
p.Gly398Arg Single submitter pyridoxine-dependent epilepsy
p.Gly398Trp Single submitter pyridoxine-dependent epilepsy
p.Gly398Val Single submitter pyridoxine-dependent epilepsy
p.Gly399Val Single submitter pyridoxine-dependent epilepsy
p.Gly406Arg Single submitter pyridoxine-dependent epilepsy
p.Gly493Ter Single submitter pyridoxine-dependent epilepsy
p.Gly53= Single submitter pyridoxine-dependent epilepsy
p.Ile207_Ala208insTer Single submitter pyridoxine-dependent epilepsy
p.Leu178fs Single submitter pyridoxine-dependent epilepsy
p.Leu270fs Single submitter pyridoxine-dependent epilepsy
p.Phe272fs Single submitter pyridoxine-dependent epilepsy
p.Pro167fs Single submitter pyridoxine-dependent epilepsy
p.Pro170Leu Single submitter pyridoxine-dependent epilepsy ⚠
p.Pro365_Asn366insTer Single submitter pyridoxine-dependent epilepsy
p.Ser458Asn Single submitter pyridoxine-dependent epilepsy
p.Thr231Arg Single submitter pyridoxine-dependent epilepsy
p.Thr31fs Single submitter pyridoxine-dependent epilepsy
p.Thr325Arg Single submitter pyridoxine-dependent epilepsy
p.Thr415fs Single submitter pyridoxine-dependent epilepsy
p.Thr487fs Single submitter pyridoxine-dependent epilepsy
p.Thr67fs Single submitter pyridoxine-dependent epilepsy
p.Trp203Ter Single submitter pyridoxine-dependent epilepsy
p.Trp363Ter Single submitter pyridoxine-dependent epilepsy
p.Trp99Ter Single submitter pyridoxine-dependent epilepsy
p.Tyr354Ser Single submitter pyridoxine-dependent epilepsy
p.Tyr408Ter Single submitter pyridoxine-dependent epilepsy
p.Val278= Single submitter pyridoxine-dependent epilepsy
p.Val80Gly Single submitter pyridoxine-dependent epilepsy
c.312+2T>A No assertion criteria pyridoxine-dependent epilepsy
c.388_518-1428del No assertion criteria pyridoxine-dependent epilepsy
p.Ala199Val No assertion criteria pyridoxine-dependent epilepsy

Pathogenic/Likely pathogenic 32

c.1200+1G>T Multiple submitters pyridoxine-dependent epilepsy
c.1318-1G>C Multiple submitters pyridoxine-dependent epilepsy
c.1489+5G>A Multiple submitters Inborn genetic diseases
c.1565+1G>T Multiple submitters pyridoxine-dependent epilepsy
c.192+3A>T Multiple submitters Inborn genetic diseases
c.246+1G>A Multiple submitters pyridoxine-dependent epilepsy
c.312+1G>A Multiple submitters pyridoxine-dependent epilepsy
c.394-1G>C Multiple submitters pyridoxine-dependent epilepsy
p.Ala177Glu Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala533fs Multiple submitters pyridoxine-dependent epilepsy
p.Arg335Gln Multiple submitters Inborn genetic diseases
p.Arg358Ter Multiple submitters Early-infantile developmental and epileptic encephalopathy
p.Arg48fs Multiple submitters pyridoxine-dependent epilepsy
p.Arg518Thr Multiple submitters pyridoxine-dependent epilepsy
p.Arg96fs Multiple submitters Inborn genetic diseases
p.Asn301fs Multiple submitters pyridoxine-dependent epilepsy
p.Asn301Ile Multiple submitters pyridoxine-dependent epilepsy
p.Asn448Lys Multiple submitters pyridoxine-dependent epilepsy
p.Gln148Ter Multiple submitters pyridoxine-dependent epilepsy
p.Gln287Ter Multiple submitters pyridoxine-dependent epilepsy
p.Gln82fs Multiple submitters pyridoxine-dependent epilepsy
p.Glu391Ter Multiple submitters pyridoxine-dependent epilepsy
p.Glu427Asp Multiple submitters pyridoxine-dependent epilepsy
p.Glu427Gln Multiple submitters pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
p.Gly111Glu Multiple submitters pyridoxine-dependent epilepsy
p.Gly202Asp Multiple submitters pyridoxine-dependent epilepsy
p.Gly509fs Multiple submitters pyridoxine-dependent epilepsy
p.Ile459Phe Multiple submitters pyridoxine-dependent epilepsy
p.Pro431Leu Multiple submitters Inborn genetic diseases
p.Ser317Leu Multiple submitters pyridoxine-dependent epilepsy
p.Trp203Gly Multiple submitters pyridoxine-dependent epilepsy
p.Tyr434fs Multiple submitters pyridoxine-dependent epilepsy

Likely pathogenic 64

c.247-1G>C Multiple submitters Inborn genetic diseases
p.Ala26fs Multiple submitters pyridoxine-dependent epilepsy
p.Gln453Arg Multiple submitters pyridoxine-dependent epilepsy
p.Gly505Val Multiple submitters pyridoxine-dependent epilepsy
p.Ile191Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Pro371Ser Multiple submitters pyridoxine-dependent epilepsy
p.Ser457Ile Multiple submitters pyridoxine-dependent epilepsy
c.1009-1G>A Single submitter pyridoxine-dependent epilepsy
c.1093+3_1093+6del Single submitter pyridoxine-dependent epilepsy
c.1201-2A>T Single submitter epilepsy
c.1490-1G>A Single submitter pyridoxine-dependent epilepsy
c.247-1G>A Single submitter pyridoxine-dependent epilepsy
c.247-1G>T Single submitter pyridoxine-dependent epilepsy
c.39_192+517del Single submitter pyridoxine-dependent epilepsy
c.393+1G>A Single submitter pyridoxine-dependent epilepsy
c.394-1G>A Single submitter pyridoxine-dependent epilepsy
c.394-2A>G Single submitter pyridoxine-dependent epilepsy
c.517+5G>A Single submitter pyridoxine-dependent epilepsy
c.518-14_518delinsCA Single submitter pyridoxine-dependent epilepsy
c.518-2A>G Single submitter pyridoxine-dependent epilepsy
c.518-2A>T Single submitter pyridoxine-dependent epilepsy
c.651-2A>G Single submitter pyridoxine-dependent epilepsy
c.695+3A>C Single submitter pyridoxine-dependent epilepsy
c.773+1G>A Single submitter pyridoxine-dependent epilepsy
c.773+2T>C Single submitter pyridoxine-dependent epilepsy
c.773+5G>A Single submitter
c.774-2A>G Single submitter pyridoxine-dependent epilepsy
c.872-1G>T Single submitter pyridoxine-dependent epilepsy
c.914-2A>C Single submitter pyridoxine-dependent epilepsy
p.Ala199Thr Single submitter pyridoxine-dependent epilepsy
p.Ala229Asp Single submitter pyridoxine-dependent epilepsy
p.Arg110Gly Single submitter
p.Arg122Leu Single submitter pyridoxine-dependent epilepsy
p.Arg329Ser Single submitter pyridoxine-dependent epilepsy
p.Arg329Thr Single submitter pyridoxine-dependent epilepsy
p.Arg329Trp Single submitter pyridoxine-dependent epilepsy
p.Asn300Asp Single submitter pyridoxine-dependent epilepsy
p.Asn525Ser Single submitter epilepsy ⚠
p.Asp511Gly Single submitter pyridoxine-dependent epilepsy
p.Asp87_Tyr88insTer Single submitter pyridoxine-dependent epilepsy
p.Glu64Asp Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly143Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly143Arg Single submitter pyridoxine-dependent epilepsy
p.Gly189Glu Single submitter
p.Gly202Val Single submitter pyridoxine-dependent epilepsy
p.Gly479Ser Single submitter pyridoxine-dependent epilepsy
p.Gly494Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly494Arg Single submitter pyridoxine-dependent epilepsy
p.Ile234_Ala235insIle Single submitter pyridoxine-dependent epilepsy
p.Phe196Ile Single submitter pyridoxine-dependent epilepsy
p.Pro106Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ser293fs Single submitter pyridoxine-dependent epilepsy
p.Ser458Gly Single submitter pyridoxine-dependent epilepsy ⚠
p.Thr192Lys Single submitter pyridoxine-dependent epilepsy
p.Thr325Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Thr331Asn Single submitter pyridoxine-dependent epilepsy
p.Trp182Ter Single submitter
p.Trp2Ter Single submitter
p.Trp470Gly Single submitter pyridoxine-dependent epilepsy
p.Trp470Ter Single submitter
p.Tyr516Ter Single submitter
p.Tyr526_Lys528delinsTer Single submitter pyridoxine-dependent epilepsy
p.Val481Glu Single submitter
p.Phe306Ile No assertion criteria pyridoxine-dependent epilepsy

Conflicting classifications of pathogenicity 69

c.1008+11C>T Single submitter pyridoxine-dependent epilepsy
c.1200+6G>A Single submitter Inborn genetic diseases
c.1415+15A>G Single submitter pyridoxine-dependent epilepsy
c.1489+4C>T Single submitter pyridoxine-dependent epilepsy
c.246+6A>T Single submitter pyridoxine-dependent epilepsy
c.246+7GT[22] Single submitter pyridoxine-dependent epilepsy
c.313-10C>A Single submitter pyridoxine-dependent epilepsy
c.313-15G>A Single submitter pyridoxine-dependent epilepsy
c.393+15T>C Single submitter pyridoxine-dependent epilepsy
c.394-15G>A Single submitter pyridoxine-dependent epilepsy
c.394-5T>C Single submitter Inborn genetic diseases
c.518-10_518-9del Single submitter pyridoxine-dependent epilepsy
c.651-18T>A Single submitter pyridoxine-dependent epilepsy
c.651-5T>C Single submitter Inborn genetic diseases
c.696-3T>C Single submitter pyridoxine-dependent epilepsy
c.913+8T>C Single submitter pyridoxine-dependent epilepsy
c.-13T>G Single submitter
c.*1730C>T Single submitter pyridoxine-dependent epilepsy
c.*5G>A Single submitter pyridoxine-dependent epilepsy
p.Ala12fs Single submitter Inborn genetic diseases
p.Ala177Pro Single submitter Inborn genetic diseases ⚠
p.Ala321Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala322Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg122Gln Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg122Pro Single submitter Inborn genetic diseases ⚠
p.Arg122Trp Single submitter Inborn genetic diseases ⚠
p.Arg329Lys Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg469Cys Single submitter Inborn genetic diseases ⚠
p.Arg469His Single submitter Inborn genetic diseases ⚠
p.Arg519Lys Single submitter pyridoxine-dependent epilepsy ⚠
p.Asn301Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Asn74= Single submitter pyridoxine-dependent epilepsy
p.Asp240= Single submitter pyridoxine-dependent epilepsy
p.Asp511Asn Single submitter pyridoxine-dependent epilepsy ⚠
p.Cys211Phe Single submitter pyridoxine-dependent epilepsy ⚠
p.Gln328Arg Single submitter pyridoxine-dependent epilepsy ⚠
p.Glu307= Single submitter pyridoxine-dependent epilepsy
p.Gly129= Single submitter pyridoxine-dependent epilepsy
p.Gly165Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly165Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly283Asp Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly327Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly392= Single submitter pyridoxine-dependent epilepsy
p.His11Glu Single submitter Inborn genetic diseases
p.His176= Single submitter pyridoxine-dependent epilepsy
p.His339= Single submitter Inborn genetic diseases
p.His339Arg Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile459Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu8Pro Single submitter pyridoxine-dependent epilepsy ⚠
p.Lys452Asn Single submitter pyridoxine-dependent epilepsy ⚠
p.Met517Ile Single submitter pyridoxine-dependent epilepsy ⚠
p.Pro184= Single submitter pyridoxine-dependent epilepsy
p.Pro371Leu Single submitter pyridoxine-dependent epilepsy ⚠
p.Pro411Leu Single submitter Inborn genetic diseases ⚠
p.Ser341Asn Single submitter Inborn genetic diseases ⚠
p.Ser520Phe Single submitter Inborn genetic diseases ⚠
p.Thr192Met Single submitter pyridoxine-dependent epilepsy ⚠
p.Thr222Ala Single submitter Inborn genetic diseases ⚠
p.Thr276Pro Single submitter ⚠
p.Thr412Ile Single submitter pyridoxine-dependent epilepsy ⚠
p.Thr426Ala Single submitter Inborn genetic diseases ⚠
p.Thr67Met Single submitter Inborn genetic diseases ⚠
p.Thr68Asn Single submitter Inborn genetic diseases ⚠
p.Trp22Ter Single submitter pyridoxine-dependent epilepsy
p.Tyr156Cys Single submitter pyridoxine-dependent epilepsy ⚠
p.Tyr354His Single submitter pyridoxine-dependent epilepsy ⚠
p.Tyr434Cys Single submitter pyridoxine-dependent epilepsy ⚠
p.Val141= Single submitter pyridoxine-dependent epilepsy
p.Val185Ile Single submitter Inborn genetic diseases ⚠

Benign 92

c.1093+107A>T Multiple submitters
c.1094-20C>G Multiple submitters pyridoxine-dependent epilepsy
c.1201-27T>C Multiple submitters
c.1317+20G>A Multiple submitters pyridoxine-dependent epilepsy
c.1317+28G>A Multiple submitters pyridoxine-dependent epilepsy
c.1318-86G>A Multiple submitters
c.1415+85A>C Multiple submitters
c.246+7GT[16] Multiple submitters pyridoxine-dependent epilepsy
c.518-12T>G Multiple submitters pyridoxine-dependent epilepsy
c.872-102G>T Multiple submitters
c.914-118dup Multiple submitters pyridoxine-dependent epilepsy
c.-132A>C Multiple submitters pyridoxine-dependent epilepsy
c.-151C>T Multiple submitters pyridoxine-dependent epilepsy
c.-60G>A Multiple submitters pyridoxine-dependent epilepsy
c.*68A>G Multiple submitters pyridoxine-dependent epilepsy
p.Leu225= Multiple submitters Inborn genetic diseases
p.Lys439Gln Multiple submitters Inborn genetic diseases ⚠
p.Thr91= Multiple submitters Inborn genetic diseases
c.1009-226_1009-225del Single submitter
c.1009-245_1009-242dup Single submitter
c.1009-245_1009-244dup Single submitter
c.1009-245dup Single submitter
c.1009-8del Single submitter pyridoxine-dependent epilepsy
c.1009-8dup Single submitter pyridoxine-dependent epilepsy
c.1093+123G>A Single submitter
c.1094-184C>T Single submitter
c.1094-224T>G Single submitter
c.1094-280dup Single submitter
c.1200+178T>G Single submitter
c.1317+217C>T Single submitter
c.1317+7del Single submitter pyridoxine-dependent epilepsy
c.1318-261T>C Single submitter
c.1318-372_1318-161del Single submitter Inborn genetic diseases
c.1415+19del Single submitter pyridoxine-dependent epilepsy
c.1490-243_1490-240del Single submitter
c.1490-256_1490-255insTC Single submitter
c.1490-267_1490-266dup Single submitter
c.1490-267dup Single submitter
c.1490-283C>T Single submitter
c.1566-240C>A Single submitter
c.193-91C>A Single submitter
c.193-92T>A Single submitter
c.246+306G>A Single submitter
c.246+36_246+37insTGTGTT Single submitter
c.246+7GT[19] Single submitter
c.246+7GT[21] Single submitter
c.246+7GT[23] Single submitter
c.313-114A>G Single submitter
c.313-174A>G Single submitter
c.393+264C>G Single submitter
c.394-249T>A Single submitter
c.394-333A>G Single submitter
c.517+224G>A Single submitter
c.517+502G>A Single submitter
c.518-110del Single submitter
c.518-323C>T Single submitter
c.650+300C>A Single submitter
c.696-217A>G Single submitter
c.773+130A>G Single submitter
c.774-160T>A Single submitter
c.774-256C>G Single submitter
c.871+167A>C Single submitter
c.871+196T>G Single submitter
c.872-9dup Single submitter pyridoxine-dependent epilepsy
c.914-101_914-95del Single submitter
c.914-118_914-117dup Single submitter
c.914-287A>G Single submitter
c.-287T>A Single submitter
c.-409G>A Single submitter
c.-447C>G Single submitter
c.-473C>G Single submitter
c.-478T>A Single submitter
c.-486C>A Single submitter
c.*1108G>A Single submitter pyridoxine-dependent epilepsy
c.*1112T>G Single submitter pyridoxine-dependent epilepsy
c.*1368A>T Single submitter pyridoxine-dependent epilepsy
c.*1446G>A Single submitter pyridoxine-dependent epilepsy
c.*1672A>G Single submitter pyridoxine-dependent epilepsy
c.*1741T>A Single submitter pyridoxine-dependent epilepsy
c.*1748T>A Single submitter pyridoxine-dependent epilepsy
c.*1749G>T Single submitter pyridoxine-dependent epilepsy
c.*1804C>T Single submitter pyridoxine-dependent epilepsy
c.*2254T>A Single submitter pyridoxine-dependent epilepsy
c.*2423C>T Single submitter pyridoxine-dependent epilepsy
c.*2499G>A Single submitter pyridoxine-dependent epilepsy
c.*2512G>A Single submitter pyridoxine-dependent epilepsy
c.*2575T>C Single submitter pyridoxine-dependent epilepsy
c.*3022T>C Single submitter pyridoxine-dependent epilepsy
c.*548C>T Single submitter pyridoxine-dependent epilepsy
c.*726C>T Single submitter pyridoxine-dependent epilepsy
c.*807C>G Single submitter pyridoxine-dependent epilepsy
c.*818G>A Single submitter pyridoxine-dependent epilepsy

Benign/Likely benign 18

c.1009-6G>A Multiple submitters pyridoxine-dependent epilepsy
c.193-20C>T Multiple submitters pyridoxine-dependent epilepsy
c.774-18G>A Multiple submitters pyridoxine-dependent epilepsy
c.774-19C>T Multiple submitters pyridoxine-dependent epilepsy
c.-117G>T Multiple submitters pyridoxine-dependent epilepsy
c.-29T>C Multiple submitters pyridoxine-dependent epilepsy
c.-34G>C Multiple submitters pyridoxine-dependent epilepsy
p.Ala13= Multiple submitters Inborn genetic diseases
p.Ala421= Multiple submitters pyridoxine-dependent epilepsy
p.Arg81= Multiple submitters Inborn genetic diseases
p.Asn205= Multiple submitters Inborn genetic diseases
p.Gln356= Multiple submitters pyridoxine-dependent epilepsy
p.Ile125Val Multiple submitters Inborn genetic diseases
p.Phe429= Multiple submitters pyridoxine-dependent epilepsy
p.Thr412Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr523Ala Multiple submitters Inborn genetic diseases ⚠
p.Val286= Multiple submitters pyridoxine-dependent epilepsy
p.Val435= Multiple submitters pyridoxine-dependent epilepsy

Likely benign 413

Showing the top 300 by review status; the full set is in the sitemap.

c.1009-14C>T Multiple submitters pyridoxine-dependent epilepsy
c.1093+270G>A Multiple submitters
c.1094-14T>G Multiple submitters pyridoxine-dependent epilepsy
c.1094-183G>A Multiple submitters
c.1094-4C>T Multiple submitters pyridoxine-dependent epilepsy
c.1200+74G>C Multiple submitters
c.1201-5A>G Multiple submitters pyridoxine-dependent epilepsy
c.1201-8T>C Multiple submitters pyridoxine-dependent epilepsy
c.1317+19C>T Multiple submitters pyridoxine-dependent epilepsy
c.1317+20G>C Multiple submitters pyridoxine-dependent epilepsy
c.1318-16A>G Multiple submitters pyridoxine-dependent epilepsy
c.1415+13C>T Multiple submitters pyridoxine-dependent epilepsy
c.1415+36C>G Multiple submitters
c.1416-11T>C Multiple submitters pyridoxine-dependent epilepsy
c.1490-47A>G Multiple submitters
c.1490-7T>C Multiple submitters pyridoxine-dependent epilepsy
c.1565+15T>C Multiple submitters pyridoxine-dependent epilepsy
c.393+12T>C Multiple submitters pyridoxine-dependent epilepsy
c.650+18T>C Multiple submitters pyridoxine-dependent epilepsy
c.651-19T>A Multiple submitters pyridoxine-dependent epilepsy
c.651-25_651-20del Multiple submitters pyridoxine-dependent epilepsy
c.871+14T>A Multiple submitters pyridoxine-dependent epilepsy
c.871+7G>A Multiple submitters pyridoxine-dependent epilepsy
c.914-13G>C Multiple submitters pyridoxine-dependent epilepsy
c.-300T>A Multiple submitters
c.*325A>G Multiple submitters pyridoxine-dependent epilepsy
p.Ala490= Multiple submitters pyridoxine-dependent epilepsy
p.Asn241= Multiple submitters Inborn genetic diseases
p.Gly118= Multiple submitters pyridoxine-dependent epilepsy
p.Gly46= Multiple submitters pyridoxine-dependent epilepsy
p.Gly504= Multiple submitters Inborn genetic diseases
p.Ile191= Multiple submitters pyridoxine-dependent epilepsy
p.Ile207= Multiple submitters pyridoxine-dependent epilepsy
p.Leu270= Multiple submitters pyridoxine-dependent epilepsy
p.Lys242= Multiple submitters Inborn genetic diseases
p.Phe320= Multiple submitters Inborn genetic diseases
p.Pro431= Multiple submitters pyridoxine-dependent epilepsy
p.Ser317= Multiple submitters pyridoxine-dependent epilepsy
p.Ser488= Multiple submitters pyridoxine-dependent epilepsy
p.Thr502= Multiple submitters pyridoxine-dependent epilepsy
p.Tyr150= Multiple submitters pyridoxine-dependent epilepsy
p.Tyr408= Multiple submitters pyridoxine-dependent epilepsy
c.1008+15A>G Single submitter pyridoxine-dependent epilepsy
c.1008+17A>G Single submitter pyridoxine-dependent epilepsy
c.1008+20C>T Single submitter pyridoxine-dependent epilepsy
c.1009-10T>C Single submitter pyridoxine-dependent epilepsy
c.1009-16A>G Single submitter pyridoxine-dependent epilepsy
c.1009-18A>G Single submitter pyridoxine-dependent epilepsy
c.1009-245_1009-241dup Single submitter
c.1009-245_1009-243dup Single submitter
c.1009-7C>T Single submitter pyridoxine-dependent epilepsy
c.1009-9T>C Single submitter pyridoxine-dependent epilepsy
c.1093+13T>G Single submitter pyridoxine-dependent epilepsy
c.1093+14_1093+16del Single submitter pyridoxine-dependent epilepsy
c.1093+14T>G Single submitter pyridoxine-dependent epilepsy
c.1093+19T>C Single submitter pyridoxine-dependent epilepsy
c.1093+7A>G Single submitter pyridoxine-dependent epilepsy
c.1094-11TC[3] Single submitter pyridoxine-dependent epilepsy
c.1094-13T>C Single submitter pyridoxine-dependent epilepsy
c.1094-16C>T Single submitter pyridoxine-dependent epilepsy
c.1094-18T>G Single submitter pyridoxine-dependent epilepsy
c.1094-20C>A Single submitter pyridoxine-dependent epilepsy
c.1094-20C>T Single submitter pyridoxine-dependent epilepsy
c.1094-215A>G Single submitter
c.1094-5del Single submitter pyridoxine-dependent epilepsy
c.1094-6C>T Single submitter pyridoxine-dependent epilepsy
c.1094-8C>G Single submitter pyridoxine-dependent epilepsy
c.1094-9T>G Single submitter pyridoxine-dependent epilepsy
c.1200+10G>T Single submitter pyridoxine-dependent epilepsy
c.1200+11C>T Single submitter pyridoxine-dependent epilepsy
c.1200+12T>G Single submitter pyridoxine-dependent epilepsy
c.1200+15G>A Single submitter pyridoxine-dependent epilepsy
c.1200+17G>A Single submitter pyridoxine-dependent epilepsy
c.1200+17G>C Single submitter pyridoxine-dependent epilepsy
c.1200+19T>C Single submitter pyridoxine-dependent epilepsy
c.1200+20C>G Single submitter pyridoxine-dependent epilepsy
c.1200+9T>C Single submitter pyridoxine-dependent epilepsy
c.1201-11C>A Single submitter pyridoxine-dependent epilepsy
c.1201-12T>C Single submitter pyridoxine-dependent epilepsy
c.1201-14T>C Single submitter pyridoxine-dependent epilepsy
c.1201-5A>C Single submitter pyridoxine-dependent epilepsy
c.1201-5A>T Single submitter pyridoxine-dependent epilepsy
c.1317+11A>G Single submitter pyridoxine-dependent epilepsy
c.1317+16G>A Single submitter pyridoxine-dependent epilepsy
c.1317+9G>T Single submitter pyridoxine-dependent epilepsy
c.1318-13TC[2] Single submitter pyridoxine-dependent epilepsy
c.1318-166A>G Single submitter
c.1318-18del Single submitter pyridoxine-dependent epilepsy
c.1318-19C>T Single submitter pyridoxine-dependent epilepsy
c.1318-7C>T Single submitter pyridoxine-dependent epilepsy
c.1415+10dup Single submitter pyridoxine-dependent epilepsy
c.1415+11G>A Single submitter pyridoxine-dependent epilepsy
c.1415+13_1415+14del Single submitter pyridoxine-dependent epilepsy
c.1415+15A>C Single submitter pyridoxine-dependent epilepsy
c.1415+7C>T Single submitter
c.1415+8T>C Single submitter pyridoxine-dependent epilepsy
c.1416-12C>T Single submitter pyridoxine-dependent epilepsy
c.1416-13C>A Single submitter pyridoxine-dependent epilepsy
c.1416-13C>G Single submitter pyridoxine-dependent epilepsy
c.1416-14C>T Single submitter pyridoxine-dependent epilepsy
c.1416-16C>T Single submitter pyridoxine-dependent epilepsy
c.1416-19T>C Single submitter pyridoxine-dependent epilepsy
c.1416-20A>G Single submitter pyridoxine-dependent epilepsy
c.1416-5C>T Single submitter pyridoxine-dependent epilepsy
c.1489+10G>T Single submitter pyridoxine-dependent epilepsy
c.1489+116del Single submitter
c.1489+12A>T Single submitter pyridoxine-dependent epilepsy
c.1489+15A>G Single submitter pyridoxine-dependent epilepsy
c.1489+7A>G Single submitter pyridoxine-dependent epilepsy
c.1490-15T>A Single submitter pyridoxine-dependent epilepsy
c.1490-15T>G Single submitter pyridoxine-dependent epilepsy
c.1490-19T>C Single submitter pyridoxine-dependent epilepsy
c.1490-20A>T Single submitter pyridoxine-dependent epilepsy
c.1490-4C>T Single submitter pyridoxine-dependent epilepsy
c.1490-6C>T Single submitter pyridoxine-dependent epilepsy
c.1565+12C>G Single submitter pyridoxine-dependent epilepsy
c.1565+167del Single submitter
c.1565+18G>A Single submitter pyridoxine-dependent epilepsy
c.1565+7A>G Single submitter pyridoxine-dependent epilepsy
c.1566-14dup Single submitter pyridoxine-dependent epilepsy
c.1566-14T>A Single submitter pyridoxine-dependent epilepsy
c.1566-156del Single submitter
c.1566-20C>A Single submitter pyridoxine-dependent epilepsy
c.1566-20C>T Single submitter pyridoxine-dependent epilepsy
c.1566-228del Single submitter
c.1566-8C>T Single submitter pyridoxine-dependent epilepsy
c.192+10C>G Single submitter pyridoxine-dependent epilepsy
c.192+11G>C Single submitter pyridoxine-dependent epilepsy
c.192+11G>T Single submitter pyridoxine-dependent epilepsy
c.192+12C>G Single submitter pyridoxine-dependent epilepsy
c.192+17G>A Single submitter pyridoxine-dependent epilepsy
c.192+9G>A Single submitter
c.193-12T>G Single submitter pyridoxine-dependent epilepsy
c.193-13C>T Single submitter pyridoxine-dependent epilepsy
c.193-15T>A Single submitter pyridoxine-dependent epilepsy
c.193-17C>T Single submitter pyridoxine-dependent epilepsy
c.193-19A>C Single submitter pyridoxine-dependent epilepsy
c.193-19A>G Single submitter pyridoxine-dependent epilepsy
c.193-20C>A Single submitter pyridoxine-dependent epilepsy
c.193-22ATC[2] Single submitter pyridoxine-dependent epilepsy
c.193-5T>C Single submitter pyridoxine-dependent epilepsy
c.246+10_246+11insTGTA Single submitter pyridoxine-dependent epilepsy
c.246+15G>C Single submitter pyridoxine-dependent epilepsy
c.246+16_246+17insTGTT Single submitter pyridoxine-dependent epilepsy
c.246+16_246+17insTT Single submitter pyridoxine-dependent epilepsy
c.246+17_246+19dup Single submitter pyridoxine-dependent epilepsy
c.246+18_246+19insTGTA Single submitter pyridoxine-dependent epilepsy
c.246+19G>T Single submitter pyridoxine-dependent epilepsy
c.246+4AG[3] Single submitter pyridoxine-dependent epilepsy
c.246+6_246+7insAT Single submitter pyridoxine-dependent epilepsy
c.246+7_246+8insGAGT Single submitter pyridoxine-dependent epilepsy
c.246+7_246+8insGAGTGT Single submitter pyridoxine-dependent epilepsy
c.246+7_246+8insGAGTGTGT Single submitter pyridoxine-dependent epilepsy
c.246+7_246+8insGAGTGTGTGT Single submitter pyridoxine-dependent epilepsy
c.246+7GT[7] Single submitter pyridoxine-dependent epilepsy
c.246+8_246+9insGTAT Single submitter pyridoxine-dependent epilepsy
c.246+8T>A Single submitter pyridoxine-dependent epilepsy
c.246+9G>C Single submitter pyridoxine-dependent epilepsy
c.247-13A>T Single submitter pyridoxine-dependent epilepsy
c.247-13dup Single submitter pyridoxine-dependent epilepsy
c.247-16C>T Single submitter pyridoxine-dependent epilepsy
c.247-18C>G Single submitter pyridoxine-dependent epilepsy
c.247-18C>T Single submitter pyridoxine-dependent epilepsy
c.247-20C>T Single submitter pyridoxine-dependent epilepsy
c.312+10G>A Single submitter pyridoxine-dependent epilepsy
c.312+11C>A Single submitter pyridoxine-dependent epilepsy
c.312+11C>G Single submitter pyridoxine-dependent epilepsy
c.312+12C>G Single submitter pyridoxine-dependent epilepsy
c.312+15T>C Single submitter pyridoxine-dependent epilepsy
c.312+16G>C Single submitter pyridoxine-dependent epilepsy
c.312+95G>A Single submitter
c.313-10C>T Single submitter pyridoxine-dependent epilepsy
c.313-13A>C Single submitter pyridoxine-dependent epilepsy
c.313-14C>T Single submitter pyridoxine-dependent epilepsy
c.313-15G>T Single submitter pyridoxine-dependent epilepsy
c.393+10T>C Single submitter pyridoxine-dependent epilepsy
c.393+11T>G Single submitter pyridoxine-dependent epilepsy
c.393+16A>C Single submitter pyridoxine-dependent epilepsy
c.393+17G>T Single submitter pyridoxine-dependent epilepsy
c.393+18dup Single submitter pyridoxine-dependent epilepsy
c.393+18T>C Single submitter pyridoxine-dependent epilepsy
c.393+19A>G Single submitter pyridoxine-dependent epilepsy
c.393+20T>A Single submitter pyridoxine-dependent epilepsy
c.393+94del Single submitter
c.393+9T>G Single submitter pyridoxine-dependent epilepsy
c.394-16C>T Single submitter pyridoxine-dependent epilepsy
c.394-18G>A Single submitter pyridoxine-dependent epilepsy
c.394-332G>T Single submitter
c.394-59_394-55del Single submitter
c.517+13A>G Single submitter pyridoxine-dependent epilepsy
c.517+14T>C Single submitter pyridoxine-dependent epilepsy
c.517+16A>G Single submitter pyridoxine-dependent epilepsy
c.517+17G>A Single submitter pyridoxine-dependent epilepsy
c.517+8A>G Single submitter pyridoxine-dependent epilepsy
c.517+9T>C Single submitter pyridoxine-dependent epilepsy
c.518-11T>C Single submitter pyridoxine-dependent epilepsy
c.518-17C>A Single submitter pyridoxine-dependent epilepsy
c.518-18T>A Single submitter pyridoxine-dependent epilepsy
c.518-19A>G Single submitter pyridoxine-dependent epilepsy
c.518-4T>C Single submitter pyridoxine-dependent epilepsy
c.518-81_518-75del Single submitter
c.518-8G>T Single submitter pyridoxine-dependent epilepsy
c.650+14A>C Single submitter pyridoxine-dependent epilepsy
c.650+14A>T Single submitter pyridoxine-dependent epilepsy
c.650+156T>C Single submitter
c.650+15C>G Single submitter
c.650+15C>T Single submitter pyridoxine-dependent epilepsy
c.650+18T>G Single submitter pyridoxine-dependent epilepsy
c.650+198G>A Single submitter
c.650+19C>T Single submitter pyridoxine-dependent epilepsy
c.650+7C>G Single submitter pyridoxine-dependent epilepsy
c.651-10C>A Single submitter pyridoxine-dependent epilepsy
c.651-12A>G Single submitter pyridoxine-dependent epilepsy
c.651-6_651-4del Single submitter pyridoxine-dependent epilepsy
c.695+11G>A Single submitter pyridoxine-dependent epilepsy
c.695+12T>G Single submitter pyridoxine-dependent epilepsy
c.695+14del Single submitter pyridoxine-dependent epilepsy
c.695+14G>T Single submitter pyridoxine-dependent epilepsy
c.695+9A>G Single submitter pyridoxine-dependent epilepsy
c.696-16G>A Single submitter pyridoxine-dependent epilepsy
c.696-16G>T Single submitter pyridoxine-dependent epilepsy
c.696-19A>G Single submitter pyridoxine-dependent epilepsy
c.696-4C>G Single submitter pyridoxine-dependent epilepsy
c.696-56T>C Single submitter
c.696-6T>G Single submitter pyridoxine-dependent epilepsy
c.696-9C>T Single submitter pyridoxine-dependent epilepsy
c.773+11A>T Single submitter pyridoxine-dependent epilepsy
c.773+15T>C Single submitter pyridoxine-dependent epilepsy
c.773+7T>C Single submitter pyridoxine-dependent epilepsy
c.773+8A>C Single submitter pyridoxine-dependent epilepsy
c.774-12G>T Single submitter pyridoxine-dependent epilepsy
c.774-14C>T Single submitter pyridoxine-dependent epilepsy
c.774-17T>C Single submitter pyridoxine-dependent epilepsy
c.774-21_774-18dup Single submitter pyridoxine-dependent epilepsy
c.774-7C>A Single submitter pyridoxine-dependent epilepsy
c.774-9C>G Single submitter pyridoxine-dependent epilepsy
c.871+15T>G Single submitter pyridoxine-dependent epilepsy
c.871+19A>G Single submitter pyridoxine-dependent epilepsy
c.871+8T>A Single submitter pyridoxine-dependent epilepsy
c.871+8T>G Single submitter pyridoxine-dependent epilepsy
c.872-14T>G Single submitter pyridoxine-dependent epilepsy
c.872-15T>C Single submitter pyridoxine-dependent epilepsy
c.872-16A>C Single submitter pyridoxine-dependent epilepsy
c.872-16A>T Single submitter pyridoxine-dependent epilepsy
c.872-18T>C Single submitter pyridoxine-dependent epilepsy
c.872-192T>C Single submitter
c.872-19A>G Single submitter pyridoxine-dependent epilepsy
c.872-20T>C Single submitter pyridoxine-dependent epilepsy
c.872-6T>C Single submitter pyridoxine-dependent epilepsy
c.913+10C>T Single submitter pyridoxine-dependent epilepsy
c.913+11C>T Single submitter pyridoxine-dependent epilepsy
c.913+12T>C Single submitter pyridoxine-dependent epilepsy
c.913+139A>T Single submitter
c.913+9G>A Single submitter pyridoxine-dependent epilepsy
c.914-101del Single submitter
c.914-102_914-101insC Single submitter
c.914-10C>A Single submitter pyridoxine-dependent epilepsy
c.914-13G>A Single submitter pyridoxine-dependent epilepsy
c.914-16T>C Single submitter pyridoxine-dependent epilepsy
c.914-19G>A Single submitter pyridoxine-dependent epilepsy
c.914-266A>G Single submitter
c.914-4T>G Single submitter pyridoxine-dependent epilepsy
c.914-94_914-89del Single submitter
c.-18C>G Single submitter
c.-30C>T Single submitter
c.*1209G>A Single submitter pyridoxine-dependent epilepsy
c.*2387A>G Single submitter pyridoxine-dependent epilepsy
c.*2603G>A Single submitter pyridoxine-dependent epilepsy
c.*690T>C Single submitter pyridoxine-dependent epilepsy
p.Ala103= Single submitter pyridoxine-dependent epilepsy
p.Ala107= Single submitter pyridoxine-dependent epilepsy
p.Ala12= Single submitter pyridoxine-dependent epilepsy
p.Ala177= Single submitter pyridoxine-dependent epilepsy
p.Ala199= Single submitter pyridoxine-dependent epilepsy
p.Ala235= Single submitter pyridoxine-dependent epilepsy
p.Ala255= Single submitter pyridoxine-dependent epilepsy
p.Ala26= Single submitter pyridoxine-dependent epilepsy
p.Ala260= Single submitter pyridoxine-dependent epilepsy
p.Ala27= Single submitter pyridoxine-dependent epilepsy
p.Ala322= Single submitter pyridoxine-dependent epilepsy
p.Ala333= Single submitter pyridoxine-dependent epilepsy
p.Ala377= Single submitter pyridoxine-dependent epilepsy
p.Ala384= Single submitter pyridoxine-dependent epilepsy
p.Ala40= Single submitter
p.Ala424= Single submitter pyridoxine-dependent epilepsy
p.Ala430= Single submitter pyridoxine-dependent epilepsy
p.Ala446= Single submitter pyridoxine-dependent epilepsy
p.Ala495= Single submitter pyridoxine-dependent epilepsy
p.Ala512= Single submitter pyridoxine-dependent epilepsy
p.Ala7= Single submitter pyridoxine-dependent epilepsy
p.Ala95= Single submitter pyridoxine-dependent epilepsy
p.Ala98= Single submitter pyridoxine-dependent epilepsy
p.Arg110= Single submitter pyridoxine-dependent epilepsy
p.Arg115= Single submitter pyridoxine-dependent epilepsy
p.Arg3= Single submitter pyridoxine-dependent epilepsy
p.Arg329= Single submitter pyridoxine-dependent epilepsy
p.Arg349= Single submitter pyridoxine-dependent epilepsy
p.Arg404= Single submitter pyridoxine-dependent epilepsy
p.Arg506= Single submitter pyridoxine-dependent epilepsy
p.Arg519= Single submitter pyridoxine-dependent epilepsy

Uncertain significance 343

Showing the top 300 by review status; the full set is in the sitemap.

c.1008+4A>G Multiple submitters pyridoxine-dependent epilepsy
c.1318-8C>T Multiple submitters pyridoxine-dependent epilepsy
c.1493_1495delGAG Multiple submitters Inborn genetic diseases
c.1566-4C>G Multiple submitters pyridoxine-dependent epilepsy
c.517+4A>C Multiple submitters pyridoxine-dependent epilepsy
c.*2498C>T Multiple submitters pyridoxine-dependent epilepsy
p.Ala120Asp Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala120Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala193Thr Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala206Thr Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala208Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala27Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala302Thr Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala305Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala333Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala384Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala388Gly Multiple submitters ALDH7A1-related disorder ⚠
p.Ala40Gly Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala40Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala421Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ala7Ser Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg162Lys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg266Gln Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg266Gly Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg349Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg358Gln Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg358Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg3Cys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg3His Multiple submitters Inborn genetic diseases ⚠
p.Arg3Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg404Cys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg404His Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg518Lys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg6Cys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg79Gly Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Arg79Lys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Asn366Lys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Asn449Lys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Gln148Glu Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Gln181Arg Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Gln281His Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Gln287Arg Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Gln356Glu Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Gln376Lys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Glu386Lys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Glu52Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly254del Multiple submitters pyridoxine-dependent epilepsy
p.Gly291= Multiple submitters pyridoxine-dependent epilepsy
p.Gly291Trp Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Gly489Glu Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Gly494Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Gly503Ser Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ile164Thr Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ile179Thr Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ile226Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ile247Val Multiple submitters Inborn genetic diseases ⚠
p.Ile257Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile303Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ile459Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ile480Thr Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ile524Val Multiple submitters Inborn genetic diseases ⚠
p.Ile536Met Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Leu18fs Multiple submitters pyridoxine-dependent epilepsy
p.Leu319Ile Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Leu382Phe Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Lys263Arg Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Lys437Thr Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Met1Val Multiple submitters pyridoxine-dependent epilepsy
p.Met261Val Multiple submitters Inborn genetic diseases ⚠
p.Met29Val Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Met380Val Multiple submitters Inborn genetic diseases ⚠
p.Pro167Leu Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Pro25Ser Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Pro362Ser Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Pro365Ser Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Pro5Leu Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Pro5Ser Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Ser16fs Multiple submitters Inborn genetic diseases
p.Ser19Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser23Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser379Gly Multiple submitters Inborn genetic diseases ⚠
p.Thr15Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr276Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr332Ile Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Thr332Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr415Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr150Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr69Cys Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Val144Met Multiple submitters Inborn genetic diseases ⚠
p.Val230Ile Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Val409Leu Multiple submitters pyridoxine-dependent epilepsy ⚠
p.Val483Ile Multiple submitters pyridoxine-dependent epilepsy ⚠
c.1008+6T>A Single submitter pyridoxine-dependent epilepsy
c.1317+6A>G Single submitter pyridoxine-dependent epilepsy
c.1415+3_1415+10del Single submitter pyridoxine-dependent epilepsy
c.1489+5del Single submitter pyridoxine-dependent epilepsy
c.1489+6T>C Single submitter pyridoxine-dependent epilepsy
c.192+5G>A Single submitter pyridoxine-dependent epilepsy
c.193-15_193-9delinsCCCTTTG Single submitter pyridoxine-dependent epilepsy
c.246+3A>G Single submitter pyridoxine-dependent epilepsy
c.246+6_246+7del Single submitter pyridoxine-dependent epilepsy
c.312+6T>G Single submitter pyridoxine-dependent epilepsy
c.313-4247G>C Single submitter pyridoxine-dependent epilepsy
c.393+3A>G Single submitter Inborn genetic diseases
c.518-8G>A Single submitter pyridoxine-dependent epilepsy
c.650+5G>C Single submitter pyridoxine-dependent epilepsy
c.695+24_695+25insACATGTGGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC Single submitter pyridoxine-dependent epilepsy
c.695+3A>T Single submitter pyridoxine-dependent epilepsy
c.774-6T>A Single submitter
c.866_871+2dup Single submitter pyridoxine-dependent epilepsy
c.913+5G>A Single submitter pyridoxine-dependent epilepsy
c.913+6G>T Single submitter pyridoxine-dependent epilepsy
c.-62G>A Single submitter pyridoxine-dependent epilepsy
c.*1053G>A Single submitter pyridoxine-dependent epilepsy
c.*1059G>A Single submitter pyridoxine-dependent epilepsy
c.*1156C>A Single submitter pyridoxine-dependent epilepsy
c.*1176G>A Single submitter pyridoxine-dependent epilepsy
c.*1287G>A Single submitter pyridoxine-dependent epilepsy
c.*1288A>G Single submitter pyridoxine-dependent epilepsy
c.*1290C>T Single submitter pyridoxine-dependent epilepsy
c.*1416A>C Single submitter pyridoxine-dependent epilepsy
c.*1441C>T Single submitter pyridoxine-dependent epilepsy
c.*1475C>T Single submitter pyridoxine-dependent epilepsy
c.*1484T>C Single submitter pyridoxine-dependent epilepsy
c.*1492G>A Single submitter pyridoxine-dependent epilepsy
c.*1496T>A Single submitter pyridoxine-dependent epilepsy
c.*1529A>G Single submitter pyridoxine-dependent epilepsy
c.*156G>A Single submitter pyridoxine-dependent epilepsy
c.*1693A>C Single submitter pyridoxine-dependent epilepsy
c.*1836C>A Single submitter pyridoxine-dependent epilepsy
c.*1839G>A Single submitter pyridoxine-dependent epilepsy
c.*1844A>T Single submitter pyridoxine-dependent epilepsy
c.*2126G>A Single submitter pyridoxine-dependent epilepsy
c.*2190T>C Single submitter pyridoxine-dependent epilepsy
c.*21C>T Single submitter pyridoxine-dependent epilepsy
c.*2314T>C Single submitter pyridoxine-dependent epilepsy
c.*2365C>T Single submitter pyridoxine-dependent epilepsy
c.*2370A>G Single submitter pyridoxine-dependent epilepsy
c.*2409A>C Single submitter pyridoxine-dependent epilepsy
c.*2492C>T Single submitter pyridoxine-dependent epilepsy
c.*2494T>C Single submitter pyridoxine-dependent epilepsy
c.*2549G>C Single submitter pyridoxine-dependent epilepsy
c.*2564G>A Single submitter pyridoxine-dependent epilepsy
c.*2584C>A Single submitter pyridoxine-dependent epilepsy
c.*2700A>T Single submitter pyridoxine-dependent epilepsy
c.*2781C>T Single submitter pyridoxine-dependent epilepsy
c.*2818T>C Single submitter pyridoxine-dependent epilepsy
c.*2914A>T Single submitter pyridoxine-dependent epilepsy
c.*2967T>C Single submitter pyridoxine-dependent epilepsy
c.*2996_*2997dup Single submitter
c.*3081C>T Single submitter pyridoxine-dependent epilepsy
c.*3124A>G Single submitter pyridoxine-dependent epilepsy
c.*319T>G Single submitter pyridoxine-dependent epilepsy
c.*352G>A Single submitter pyridoxine-dependent epilepsy
c.*403C>T Single submitter pyridoxine-dependent epilepsy
c.*404G>A Single submitter pyridoxine-dependent epilepsy
c.*641G>A Single submitter pyridoxine-dependent epilepsy
c.*65G>A Single submitter pyridoxine-dependent epilepsy
c.*704G>A Single submitter pyridoxine-dependent epilepsy
c.*717G>A Single submitter pyridoxine-dependent epilepsy
c.*931A>G Single submitter pyridoxine-dependent epilepsy
c.*998_*1000dup Single submitter
p.Ala12Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala220Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala229Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala229Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala235Asp Single submitter ⚠
p.Ala26Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala27Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala309Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala318Pro Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala318Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala377Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala40Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala424Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala430Asp Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala78Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala7fs Single submitter pyridoxine-dependent epilepsy
p.Ala7Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala83Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ala95Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg24Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg3Pro Single submitter ⚠
p.Arg48Gly Single submitter ⚠
p.Arg506Lys Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg518= Single submitter pyridoxine-dependent epilepsy
p.Arg62Trp Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg6Pro Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg6Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg81Gln Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg81Leu Single submitter pyridoxine-dependent epilepsy ⚠
p.Arg96Gly Single submitter pyridoxine-dependent epilepsy ⚠
p.Asn205Asp Single submitter Inborn genetic diseases ⚠
p.Asn213Asp Single submitter pyridoxine-dependent epilepsy ⚠
p.Asn241del Single submitter pyridoxine-dependent epilepsy
p.Asn241Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Asn484Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Asn525Lys Single submitter pyridoxine-dependent epilepsy ⚠
p.Asp119Asn Single submitter pyridoxine-dependent epilepsy ⚠
p.Asp155Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Asp256His Single submitter pyridoxine-dependent epilepsy ⚠
p.Asp264Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Asp310Tyr Single submitter pyridoxine-dependent epilepsy ⚠
p.Asp403Asn Single submitter ⚠
p.Asp420Tyr Single submitter pyridoxine-dependent epilepsy ⚠
p.Asp477His Single submitter pyridoxine-dependent epilepsy ⚠
p.Asp87Glu Single submitter pyridoxine-dependent epilepsy ⚠
p.Asp87His Single submitter pyridoxine-dependent epilepsy ⚠
p.Cys154Arg Single submitter ⚠
p.Cys248Tyr Single submitter Inborn genetic diseases ⚠
p.Cys522Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Cys9Tyr Single submitter Inborn genetic diseases ⚠
p.Gln277Pro Single submitter ⚠
p.Gln36His Single submitter ⚠
p.Gln534Ter Single submitter
p.Glu146Asp Single submitter pyridoxine-dependent epilepsy ⚠
p.Glu149Lys Single submitter ⚠
p.Glu491Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Glu507Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Glu507Gln Single submitter pyridoxine-dependent epilepsy ⚠
p.Glu50Gly Single submitter pyridoxine-dependent epilepsy ⚠
p.Glu50Lys Single submitter ⚠
p.Glu64= Single submitter pyridoxine-dependent epilepsy
p.Glu75Lys Single submitter pyridoxine-dependent epilepsy ⚠
p.Glu89= Single submitter
p.Gly118Ala Single submitter Inborn genetic diseases ⚠
p.Gly145Asp Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly20Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly20Arg Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly219Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly219Arg Single submitter Inborn genetic diseases ⚠
p.Gly245Ser Single submitter Inborn genetic diseases ⚠
p.Gly254Glu Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly465Asp Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly493Ala Single submitter Inborn genetic diseases ⚠
p.Gly494Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly504Arg Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly57Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly61Ala Single submitter pyridoxine-dependent epilepsy ⚠
p.Gly63Arg Single submitter pyridoxine-dependent epilepsy ⚠
p.His339Tyr Single submitter pyridoxine-dependent epilepsy ⚠
p.His343Tyr Single submitter pyridoxine-dependent epilepsy ⚠
p.His425Pro Single submitter ⚠
p.Ile153Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile179Met Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile190Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile207Phe Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile233Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile303Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile413Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile423Val Single submitter ⚠
p.Ile432Met Single submitter Inborn genetic diseases ⚠
p.Ile459Met Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile467Thr Single submitter ⚠
p.Ile480Val Single submitter Inborn genetic diseases ⚠
p.Ile492Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Ile536Leu Single submitter Inborn genetic diseases ⚠
p.Ile77Leu Single submitter Inborn genetic diseases ⚠
p.Ile77Val Single submitter Inborn genetic diseases ⚠
p.Leu178Pro Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu18Pro Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu216Phe Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu216Pro Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu319His Single submitter ⚠
p.Leu417Phe Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu433Phe Single submitter Inborn genetic diseases ⚠
p.Leu455Pro Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu45Met Single submitter Inborn genetic diseases ⚠
p.Leu471Phe Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu47Phe Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu4Phe Single submitter pyridoxine-dependent epilepsy ⚠
p.Leu8Val Single submitter pyridoxine-dependent epilepsy
p.Lys138Gln Single submitter pyridoxine-dependent epilepsy ⚠
p.Lys14Asn Single submitter pyridoxine-dependent epilepsy ⚠
p.Lys351Glu Single submitter pyridoxine-dependent epilepsy ⚠
p.Lys352Asn Single submitter pyridoxine-dependent epilepsy ⚠
p.Lys375Arg Single submitter pyridoxine-dependent epilepsy ⚠
p.Lys43Gln Single submitter pyridoxine-dependent epilepsy ⚠
p.Lys462Glu Single submitter pyridoxine-dependent epilepsy ⚠
p.Met163Lys Single submitter pyridoxine-dependent epilepsy ⚠
p.Met163Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Met1Lys Single submitter pyridoxine-dependent epilepsy
p.Met285Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Met380Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Met517Leu Single submitter pyridoxine-dependent epilepsy ⚠
p.Met517Val Single submitter pyridoxine-dependent epilepsy ⚠
p.Phe196Leu Single submitter pyridoxine-dependent epilepsy ⚠
p.Phe306Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Pro108Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Pro170Ser Single submitter pyridoxine-dependent epilepsy ⚠
p.Pro21Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Pro221Leu Single submitter Inborn genetic diseases ⚠
p.Pro25Leu Single submitter Inborn genetic diseases ⚠
p.Pro362Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Pro411Gln Single submitter ⚠
p.Pro473Thr Single submitter pyridoxine-dependent epilepsy ⚠
p.Ser133Cys Single submitter pyridoxine-dependent epilepsy ⚠
p.Ser224Cys Single submitter pyridoxine-dependent epilepsy ⚠
p.Ser224Phe Single submitter pyridoxine-dependent epilepsy ⚠
p.Ser23Arg Single submitter pyridoxine-dependent epilepsy ⚠