DHTKD1 — 998 ClinVar variants

All ClinVar germline DHTKD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 509 flagged for review →

31 Pathogenic · 6 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 15 Conflicting · 63 Benign · 12 Benign/Likely benign · 304 Likely benign · 544 Uncertain significance

Full DHTKD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 509

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

DHTKD1 p.Pro515Thr Likely pathogenic Single submitter
Charcot-Marie-Tooth disease axonal type 2Q

Predictors agree, ClinVar conflicts 5

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

DHTKD1 p.Ala103Ser Conflicting Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg246Gln Conflicting Single submitter
Inborn genetic diseases
DHTKD1 p.Arg715His Conflicting Single submitter
Inborn genetic diseases
DHTKD1 p.Gly729Arg Conflicting Single submitter
inborn disorder of lysine and hydroxylysine metabolism
DHTKD1 p.Met241Leu Conflicting Single submitter
2-aminoadipic 2-oxoadipic aciduria

Predictors lean, ClinVar uncertain 295

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 295

DHTKD1 p.Ala113Pro Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ala297Val Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ala723Val Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ala81Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg163Gln Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg308Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg308His Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg417His Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg420His Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg420Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg590His Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg590Leu Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg888Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg892Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Asn123Ser Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn670Asp Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp144Glu Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Asp439His Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp702Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gln305His Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln546His Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln80His Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln819Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Glu193Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Glu647Lys Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu84Asp Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly14Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gly14Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gly303Val Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gly434Asp Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly434Ser Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly511Arg Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly705Arg Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly810Asp Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.His277Gln Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His396Arg Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His699Arg Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His747Tyr Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ile326Val Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ile356Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ile618Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Leu166Pro Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Leu205Arg Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu503Pro Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu914Val Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Lys148Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Lys811Arg Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Lys916Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Met241Val Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Met283Val Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Phe273Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Pro321Leu Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Pro35Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Pro51Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Pro842Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ser135Ala Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ser307Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2Q
DHTKD1 p.Ser549Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ser636Gly Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ser710Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Thr102Met Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Thr461Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Thr461Lys Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Thr78Ala Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Trp571Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Tyr24Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Val776Met Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Val856Leu Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Val93Ala Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala16Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala257Gly Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Ala275Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala468Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala502Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala513Pro Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala57Val Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Ala672Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala71Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala743Glu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala915Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg10Leu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg226Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease axonal type 2Q
DHTKD1 p.Arg302Cys Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg302His Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg407Pro Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Arg420Pro Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Arg431Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg499Lys Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg499Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg532Gln Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg604Ser Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Arg712Pro Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg755Pro Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg878Gly Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg892Gln Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn254Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn286Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn317Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn350Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn365Tyr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn366Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn493Asp Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn504Lys Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp141Glu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp333Gly Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Asp385Gly Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Asp422Asn Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp422Glu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp565Gly Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Asp565His Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Asp570Glu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp570Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp615Asn Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp667Asn Uncertain significance Single submitter
DHTKD1 p.Asp667His Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp667Tyr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp702Tyr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp858Asn Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Cys327Trp Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Cys64Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln129Lys Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln174His Uncertain significance Single submitter
DHTKD1 p.Gln25Pro Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln329His Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln367His Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln432Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln514His Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln518Pro Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln585Glu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln673Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln847Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln909His Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln94Pro Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Gln97Lys Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu175Gln Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu344Gly Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu39Asp Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Glu39Gly Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu42Lys Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu544Gln Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu561Gln Uncertain significance Single submitter
DHTKD1 p.Glu65Gln Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu714Gln Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu725Asp Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu837Lys Uncertain significance Single submitter
DHTKD1 p.Gly109Glu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly12Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly14Ala Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly303Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly340Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria

Predictors split 208

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 208

DHTKD1 p.Ala275Val Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ala574Thr Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala574Val Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala70Gly Likely benign Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala884Pro Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala915Pro Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ala91Val Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg149Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg22Ser Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg243His Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg243Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg324Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg410Gln Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg420Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg455Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg532Trp Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg598Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg755Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Arg834Gln Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg888Cys Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg888His Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn635Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Asn670Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Asn756Tyr Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp529Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Asp570Gly Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp798Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gln140His Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln611Arg Benign/Likely benign Multiple submitters
Inborn genetic diseases
DHTKD1 p.Glu151Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Glu204Lys Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu464Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2Q
DHTKD1 p.Glu464Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gly311Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gly322Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gly470Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gly566Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gly793Asp Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Gly793Ser Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ile792Val Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ile902Thr Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu582Val Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Lys148Thr Likely benign Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Met563Thr Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Phe442Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Phe630Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Pro373Leu Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Pro706Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Pro773Leu Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Pro871Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Pro877Ala Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ser209Leu Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ser3Cys Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ser581Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Ser862Ile Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Thr372Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2Q
DHTKD1 p.Thr473Met Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Thr616Ala Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Tyr485Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Tyr617Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Tyr814Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Val281Met Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Val293Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Val325Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Val423Met Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Val643Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Val797Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DHTKD1 p.Val806Met Uncertain significance Multiple submitters
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala210Thr Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Ala2Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala408Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala704Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala70Asp Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala825Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala899Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ala8Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg149Trp Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg246Pro Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg378Lys Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Arg407Cys Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg407His Conflicting Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg417Cys Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg49His Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg598His Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg712Gln Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg755Gln Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Arg888Leu Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Asn294Ile Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn398Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asn436Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp312Asn Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp323Asn Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp702Glu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp721Gly Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Asp858Ala Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln309Pro Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln367Glu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gln80Pro Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu116Gly Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Glu172Lys Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Glu175Asp Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Glu175Lys Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Glu849Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease axonal type 2Q
DHTKD1 p.Gly213Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly32Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly470Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly525Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Gly535Val Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Gly824Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His203Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His550Tyr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His555Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His555Pro Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His622Tyr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His812Gln Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.His859Asn Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.His910Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ile132Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ile219Thr Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Ile652Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ile680Met Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Ile762Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Ile792Phe Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu105Ser Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Leu153Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu17Phe Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu205Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu348Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu488Phe Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Leu531Met Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu658Val Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Leu688Phe Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu748Val Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu887Phe Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu895Phe Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Leu895Trp Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Lys110Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Lys759Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Met448Val Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Met563Lys Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Met650Ile Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Met850Thr Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Phe273Leu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Phe533Leu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Phe587Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Phe757Val Uncertain significance Single submitter
Inborn genetic diseases
DHTKD1 p.Pro18Ser Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Pro237Leu Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria
DHTKD1 p.Pro278Ala Uncertain significance Single submitter
DHTKD1 p.Pro352Arg Uncertain significance Single submitter
2-aminoadipic 2-oxoadipic aciduria

All DHTKD1 variants

Pathogenic 31

p.Arg163Ter Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Arg410Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
p.Arg712Ter Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Glu250fs Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Thr461fs Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Trp861Ter Multiple submitters Inborn genetic diseases
p.Ala783fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg246Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp323fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gln235Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gln557Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gln627Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu111fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu821fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly98fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.His223fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.His66_Gly67insTer Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ile451fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu761fs Single submitter
p.Leu83fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Lys656fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Lys801Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Lys818fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Phe20fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro515fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser602fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Trp522Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr484Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr63fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr745Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr853Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria

Pathogenic/Likely pathogenic 6

c.1897-1G>A Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Arg455Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
p.Gly470fs Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Thr157fs Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Trp687Ter Multiple submitters DHTKD1-related disorder
p.Tyr462Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q

Likely pathogenic 23

c.1671+1G>A Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.2320-2A>T Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.2572+1G>A Multiple submitters DHTKD1-related disorder
p.Pro799fs Multiple submitters DHTKD1-related disorder
c.1159+1G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1160-1G>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1742_1756+29del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+1G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+1G>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+2T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2048-8_2050del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2143C>T Single submitter Inborn genetic diseases
c.2154_2154+1insT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2402+1G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.310+2T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.522+1G>C Single submitter
p.Ala6fs Single submitter
p.Gln474Ter Single submitter
p.Gly785fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu620fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro515Thr Single submitter Charcot-Marie-Tooth disease axonal type 2Q ⚠
p.Tyr24Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr485Ter Single submitter Charcot-Marie-Tooth disease axonal type 2Q

Conflicting classifications of pathogenicity 15

c.155-17A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2659-3_2659-2del Single submitter Inborn genetic diseases
c.718-5A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala103Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg246Gln Single submitter Inborn genetic diseases ⚠
p.Arg407His Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg715His Single submitter Inborn genetic diseases ⚠
p.Arg834Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gln416Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu27fs Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu437Ter Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly729Arg Single submitter inborn disorder of lysine and hydroxylysine metabolism ⚠
p.Met241Leu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Val360Met Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Met1Val No assertion criteria 2-aminoadipic 2-oxoadipic aciduria

Benign 63

c.155-108T>A Multiple submitters
c.155-84T>C Multiple submitters
c.1671+35C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
c.1756+16T>C Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.1756+40G>T Multiple submitters
c.1896+140G>A Multiple submitters
c.1897-126A>C Multiple submitters
c.2048-100G>T Multiple submitters
c.2048-12G>T Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.2155-66C>T Multiple submitters
c.2320-25A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
c.2320-4G>A Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.2402+10G>C Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.2403-116T>C Multiple submitters
c.2403-125C>T Multiple submitters
c.2403-142T>C Multiple submitters
c.2403-146T>C Multiple submitters
c.2403-152T>C Multiple submitters
c.2659-126A>G Multiple submitters
c.310+40C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
c.310+41A>C Multiple submitters
c.311-49A>T Multiple submitters
c.987+10G>C Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.*129C>T Multiple submitters
p.Asn317= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Ile607Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
p.Ile693= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
p.Phe20Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
p.Phe646= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
p.Phe841= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Pro637= Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
p.Thr520= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Tyr272Asp Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
c.1159+155C>T Single submitter
c.1160-184G>A Single submitter
c.1756+22del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+22dup Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+41A>T Single submitter
c.1756+42G>T Single submitter
c.1757-180C>T Single submitter
c.2048-5del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2320-200A>C Single submitter
c.2320-5C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2402+108_2402+109insAT Single submitter
c.2402+109_2402+110del Single submitter
c.2402+93_2402+104del Single submitter
c.2402+93_2402+114del Single submitter
c.2402+93_2402+118del Single submitter
c.2403-157C>T Single submitter
c.2403-158C>G Single submitter
c.2403-176A>G Single submitter
c.2403-217G>A Single submitter
c.2572+156A>G Single submitter
c.2659-226C>T Single submitter
c.2659-235A>G Single submitter
c.310+145C>A Single submitter
c.522+154G>A Single submitter
c.523-186C>G Single submitter
c.987+20T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asn123= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.His203= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Phe20= Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2402+1G>C No assertion criteria Abnormality of neuronal migration

Benign/Likely benign 12

p.Ala210Ser Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Ala517Val Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Asn350Asp Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Asp565= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Asp707Glu Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q
p.Asp728= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Gln611Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu428= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Leu914= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Met547Ile Multiple submitters Inborn genetic diseases
p.Thr347= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Thr78= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria

Likely benign 304

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

c.1672-20T>A Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.2047+16T>C Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.2048-4C>T Multiple submitters Inborn genetic diseases
c.2154+18C>T Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.2154+19G>A Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.717+13G>A Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.718-13G>A Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Ala292= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Ala517= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Ala70Gly Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala723= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Ala775= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Arg11= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Arg750= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Gln780= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Gly98= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.His550= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.His908Asn Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Leu248= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Leu411= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Lys148Thr Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ser185= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Ser209= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Ser3= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Thr102= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Val360Ala Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.1159+12A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1159+19A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1160-13T>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1160-18T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1358+16C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1358+19G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1358+20T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1358+9A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1359-13_1359-12del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.154+15C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.154+18G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.154+19G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.154+20C>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.154+8A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.155-11C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.155-17del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.155-20T>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1671+14A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1671+9C>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1672-19dup Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1672-20T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+10T>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+12C>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+12C>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+12C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+12del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+13_1756+14insATTTTTTTTCTGT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+13T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+13T>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+14_1756+15insGTTTTTTTGTGTTTTTTTTTTTTTT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+16_1756+22dup Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+18T>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+18T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+20_1756+21insCTGTTTTTTT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+20T>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+20T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+21_1756+22insCTGTTTTTTTTT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+21_1756+22insGGGTTTTTTTTTTTTTTTT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+21_1756+22insGTGTTTTTT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+22_1756+23insGGTGTTTTTTTTTTTTTTTTT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+22_1756+23insTCTGTTTTTTTTTT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+22_1756+23insTCTGTTTTTTTTTTT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+23_1756+34del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+23_1756+39del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+7_1756+8insATTTGTTTTTTTTTTTAGGTTTTTT Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1756+7A>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1757-12T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1757-14dup Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1757-7G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1896+14A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1896+16A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1896+19T>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1897-15C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1897-6G>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2047+12C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2047+13G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2047+9C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2048-14T>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2048-15G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2048-16C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2048-18C>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2048-18C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2048-32_2048-10del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2154+11C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2154+12G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2155-14C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2155-15C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2319+11G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2319+12G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2319+19del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2320-11C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2320-12T>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2320-14C>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2320-9C>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2402+18_2402+19del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2402+9T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2403-16del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2403-18T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2403-7C>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2572+9T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2573-12C>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2573-18G>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2658+10C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2658+11G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2658+7A>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2659-11T>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2659-17C>G Single submitter
c.2659-18_2659-16del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2659-20C>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.310+10C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.310+12G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.310+16A>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.311-14A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.311-17T>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.311-20C>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.522+11G>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.522+12C>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.522+12C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.522+19G>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.522+8G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.522+9G>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.523-11A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.523-12G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.523-14A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.523-14A>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.717+12C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.717+13G>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.717+16G>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.718-11A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.718-14T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.718-15A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.718-7A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.988-18C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala181= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala2= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala275= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala297= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala463= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala486= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala496= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala574= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala576= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala642= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala672= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala743= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala81= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala884= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala915= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg149= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg163= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg246= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg302= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg34= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg532= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg751= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg878= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asn228= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asn398= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asn493= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asn588= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asn85= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp177= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp260= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp310= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp529= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp570= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp615= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp624= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp677= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Asp794= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Cys64= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Cys839= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gln129= Single submitter
p.Gln136= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gln611= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gln909= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu162= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu42= Single submitter
p.Glu476= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu479= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu575= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu640= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Glu662= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly12= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly192= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly200= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly232= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly299= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly303= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly311= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly322= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly332= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly387= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly391= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly45= Single submitter
p.Gly469= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly511= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly666= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly700= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly726= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly79= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gly810= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.His165= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.His264= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.His289= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.His435= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.His555= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ile395= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ile519= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ile652= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ile674= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu105= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu166= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu169= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu234= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu279= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu290= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu328= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu362= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu381= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu552= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu569= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu631= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu644= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu660= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu688= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu696= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu805= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu82= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu823= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu843= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu883= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Leu889= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Lys110= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Lys188= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Lys421Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Lys487= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Lys628= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Lys818= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Phe100= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Phe202= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Phe255= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Phe273= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Phe419= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Phe669= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Phe746= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro238= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro278= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro295= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro315= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro321= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro527= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro619= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro742= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro790= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro840= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro842= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Pro871= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser139= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser167= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser212= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser314= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser457= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser478= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser654Cys Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ser691= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser722= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser809= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser815= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ser873= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr157= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr186= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr282= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr371= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr473= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr554= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr573= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr613= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr804= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr917= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Thr95= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr31= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr370= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr415= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr430= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr701= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Tyr814= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Val293= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Val296= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Val298= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Val397= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Val52= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Val539= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Val608= Single submitter 2-aminoadipic 2-oxoadipic aciduria

Uncertain significance 544

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

c.1159+5G>A Multiple submitters Inborn genetic diseases
c.2402+3A>G Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
c.2658+1G>T Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Ala113Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala275Val Multiple submitters Inborn genetic diseases ⚠
p.Ala297Val Multiple submitters Inborn genetic diseases ⚠
p.Ala574Thr Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala574Val Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala723Val Multiple submitters Inborn genetic diseases ⚠
p.Ala81Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala884Pro Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala915Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala91Val Multiple submitters Inborn genetic diseases ⚠
p.Arg149Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg163Gln Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg22Ser Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg243His Multiple submitters Inborn genetic diseases ⚠
p.Arg243Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg308Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg308His Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg324Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg410Gln Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg417His Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg420Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg420His Multiple submitters Inborn genetic diseases ⚠
p.Arg420Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg455Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg532Trp Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg590His Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg590Leu Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg598Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg755Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg834Gln Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg888Cys Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg888His Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg888Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg892Leu Multiple submitters Inborn genetic diseases ⚠
p.Asn123Ser Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn635Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn670Asp Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn670Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn756Tyr Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp144Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp439His Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp529Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp570Gly Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp702Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp798Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln140His Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln305His Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln546His Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln80His Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln819Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu151Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu193Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu204Lys Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu464Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q ⚠
p.Glu464Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu647Lys Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu84Asp Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly14Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly14Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly303Val Multiple submitters Inborn genetic diseases ⚠
p.Gly311Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly322Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly434Asp Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly434Ser Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly470Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly511Arg Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly566Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly705Arg Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly793Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly793Ser Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly810Asp Multiple submitters Inborn genetic diseases ⚠
p.His277Gln Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.His396Arg Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.His699Arg Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.His747Tyr Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ile326Val Multiple submitters Inborn genetic diseases ⚠
p.Ile356Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile618Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile792Val Multiple submitters Inborn genetic diseases ⚠
p.Ile902Thr Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Leu166Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu205Arg Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Leu234Gly Multiple submitters Inborn genetic diseases
p.Leu503Pro Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Leu582Val Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Leu914Val Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Lys148Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys811Arg Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Lys916Arg Multiple submitters Inborn genetic diseases ⚠
p.Met241Val Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Met283Val Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Met563Thr Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Phe273Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe442Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe630Cys Multiple submitters Inborn genetic diseases ⚠
p.Pro321Leu Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Pro35Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro373Leu Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Pro51Gln Multiple submitters Inborn genetic diseases ⚠
p.Pro706Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro773= Multiple submitters 2-aminoadipic 2-oxoadipic aciduria
p.Pro773Leu Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Pro842Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro871Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro877Ala Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ser135Ala Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ser209Leu Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ser307Phe Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q ⚠
p.Ser3Cys Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ser549Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser581Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser636Gly Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ser710Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser862Ile Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Thr102Met Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Thr372Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2Q ⚠
p.Thr461Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr461Lys Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Thr473Met Multiple submitters Inborn genetic diseases ⚠
p.Thr616Ala Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Thr78Ala Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Trp571Arg Multiple submitters Inborn genetic diseases ⚠
p.Tyr24Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr485Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr617Ser Multiple submitters Inborn genetic diseases ⚠
p.Tyr814Cys Multiple submitters Inborn genetic diseases ⚠
p.Val281Met Multiple submitters Inborn genetic diseases ⚠
p.Val293Ile Multiple submitters Inborn genetic diseases ⚠
p.Val325Ile Multiple submitters Inborn genetic diseases ⚠
p.Val423Met Multiple submitters Inborn genetic diseases ⚠
p.Val643Ala Multiple submitters Inborn genetic diseases ⚠
p.Val776Met Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Val797Ala Multiple submitters Inborn genetic diseases ⚠
p.Val806Met Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Val856Leu Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Val93Ala Multiple submitters 2-aminoadipic 2-oxoadipic aciduria ⚠
c.1159+4C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1160-17G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.154+2T>G Single submitter Inborn genetic diseases
c.155-1G>T Single submitter
c.1671+3G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1671+3G>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1671+4G>A Single submitter Inborn genetic diseases
c.1671+5G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1672-233G>A Single submitter developmental delay and seizures with or without movement abnormalities
c.1757-3A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.1757-3A>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2047+18G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2155-3C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2319+2_2319+3insC Single submitter
c.2403-3C>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2572+3A>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2572+5G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2573-13T>G Single submitter
c.2658+2del Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.2659-3T>C Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.522+3A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.523-3C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.523-8T>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.717+5G>A Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.718-4A>G Single submitter 2-aminoadipic 2-oxoadipic aciduria
c.987+4C>T Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala16Thr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala210Thr Single submitter Inborn genetic diseases ⚠
p.Ala257Gly Single submitter Inborn genetic diseases ⚠
p.Ala275Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala2Thr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala408Val Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala468Thr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala502Val Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala513Pro Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala57Val Single submitter Inborn genetic diseases ⚠
p.Ala663Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Ala672Thr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala704Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala70Asp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala71Val Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala743Glu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala825Val Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala899Thr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala8Thr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Ala915Thr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg10Leu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg149Trp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg226Lys Single submitter Charcot-Marie-Tooth disease axonal type 2Q ⚠
p.Arg246Pro Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg302Cys Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg302His Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg378Lys Single submitter Inborn genetic diseases ⚠
p.Arg407Cys Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg407Pro Single submitter Inborn genetic diseases ⚠
p.Arg417Cys Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg420Pro Single submitter Inborn genetic diseases ⚠
p.Arg431Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg499Lys Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg499Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg49His Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg532Gln Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg598His Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg604Ser Single submitter Inborn genetic diseases ⚠
p.Arg712Gln Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg712Pro Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg751_Arg755del Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Arg755Gln Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg755Pro Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg878Gly Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Arg888Leu Single submitter Inborn genetic diseases ⚠
p.Arg892Gln Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn254Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn286Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn294Ile Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn317Thr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn350Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn365Tyr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn366Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn398Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn436Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn493Asp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asn504Lys Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp141Glu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp312Asn Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp323Asn Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp333Gly Single submitter Inborn genetic diseases ⚠
p.Asp385Gly Single submitter Inborn genetic diseases ⚠
p.Asp422Asn Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp422Glu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp565Gly Single submitter Inborn genetic diseases ⚠
p.Asp565His Single submitter Inborn genetic diseases ⚠
p.Asp570Glu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp570Val Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp615Asn Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp667Asn Single submitter ⚠
p.Asp667His Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp667Tyr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp702Glu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp702Tyr Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp721Gly Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp858Ala Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Asp858Asn Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Cys327Trp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Cys64Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln129Lys Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln174His Single submitter ⚠
p.Gln25Pro Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln309Pro Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln329His Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln367Glu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln367His Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln432Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln514His Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln518Pro Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln585Glu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln673Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln718= Single submitter 2-aminoadipic 2-oxoadipic aciduria
p.Gln80Pro Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln847Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln909His Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gln94Pro Single submitter Inborn genetic diseases ⚠
p.Gln97Lys Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu116Gly Single submitter Inborn genetic diseases ⚠
p.Glu172Lys Single submitter Inborn genetic diseases ⚠
p.Glu175Asp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu175Gln Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu175Lys Single submitter Inborn genetic diseases ⚠
p.Glu344Gly Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu39Asp Single submitter Inborn genetic diseases ⚠
p.Glu39Gly Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu42Lys Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu544Gln Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu561Gln Single submitter ⚠
p.Glu65Gln Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu714Gln Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu725Asp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Glu837Lys Single submitter ⚠
p.Glu849Val Single submitter Charcot-Marie-Tooth disease axonal type 2Q ⚠
p.Gly109Glu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly12Val Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly14Ala Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly213Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly303Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly32Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly340Val Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly377Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly399Arg Single submitter Inborn genetic diseases ⚠
p.Gly469Asp Single submitter Inborn genetic diseases ⚠
p.Gly470Val Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly525Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly535Asp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly535Val Single submitter Inborn genetic diseases ⚠
p.Gly55Ser Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly597Asp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly629Glu Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly666Asp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly671Asp Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly683Val Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly726Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠
p.Gly79Arg Single submitter 2-aminoadipic 2-oxoadipic aciduria ⚠