AMPD1 — 574 ClinVar variants

All ClinVar germline AMPD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 30 Conflicting · 46 Benign · 4 Benign/Likely benign · 157 Likely benign · 332 Uncertain significance

Full AMPD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 239

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 agree, ClinVar conflicts 12

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

AMPD1 c.-15A>G Conflicting Single submitter
Inborn genetic diseases
AMPD1 p.Arg388Trp Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg425His Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg79Trp Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp193Asn Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gly171Asp Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gly574Glu Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Lys287Ile Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
AMPD1 p.Met310Ile Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ser524Thr Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Thr108Ile Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Val112Met Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency

Predictors lean, ClinVar uncertain 181

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 181

AMPD1 c.-42C>T Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Ala308Thr Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ala578Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Arg147His Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg167Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Arg18His Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Arg196Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Arg262Trp Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg263Cys Uncertain significance Multiple submitters
AMPD1-related disorder
AMPD1 p.Arg263His Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Arg292Gln Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg366Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Arg371Ser Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg388Gln Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg467Pro Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg724His Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg728Cys Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg728His Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg75Cys Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg79Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Asn220Ser Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp14Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Asp170Val Uncertain significance Multiple submitters
autism
AMPD1 p.Asp243Asn Uncertain significance Multiple submitters
autism
AMPD1 p.Asp42Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Asp434Glu Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Gln110Pro Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Gln324Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Gln605Lys Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Gly213Ser Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.His261Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.His314Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Ile169Met Uncertain significance Multiple submitters
autism
AMPD1 p.Ile407Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Ile506Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Ile644Asn Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ile99Thr Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu598Phe Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Lys230Glu Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Lys257Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Lys320Glu Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Met662Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Phe294Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Phe523Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Pro660Leu Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ser154Leu Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Ser39Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Thr302Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Tyr705His Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Tyr729Asp Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 c.-30G>A Uncertain significance Single submitter
autism
AMPD1 c.-33T>C Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 c.-33T>G Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 c.-69C>G Uncertain significance Single submitter
autism
AMPD1 p.Ala384Glu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ala404Pro Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ala412Val Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ala578Val Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Arg147Cys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg167Gly Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Arg35Cys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg35His Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg35Leu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg371Cys Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Arg371His Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg425Cys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg461Gly Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg461Ser Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg570Gln Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg724Cys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg724Leu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg724Pro Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asn177Tyr Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Asn311Lys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asn623Asp Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Asn632Ile Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asn83Asp Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp15Asn Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Asp198His Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp243Tyr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp31Gly Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp31Val Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp373Gly Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp389Gly Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp389Val Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp464Gly Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp510Gly Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp513Asn Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp514Gly Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp591Ala Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp649Gly Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Asp678Gly Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asp703Asn Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Cys297Tyr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Cys445Tyr Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Gln110Glu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gln55Arg Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gln612His Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Glu101Gln Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Glu279Lys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Glu282Lys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Glu423Ala Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Glu435Gly Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Glu498Gln Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Glu53Lys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Glu62Asp Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Glu681Lys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Glu708Lys Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Gly213Asp Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Gly213Cys Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Gly213Val Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gly383Glu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gly577Arg Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gly709Asp Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gly712Glu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gly78Glu Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.His51Arg Uncertain significance Single submitter
AMPD1 p.Ile103Thr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ile169Thr Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Ile38Thr Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Ile462Thr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ile46Ser Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ile99Met Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Leu264Pro Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu267Pro Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Leu277Phe Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu439Arg Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu604Arg Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu625Val Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu688Ser Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu701Gln Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu743Ile Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Lys30Ile Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Lys320Met Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Lys347Gln Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Lys95Asn Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Met17Thr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Met310Thr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Met350Ile Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Met553Ile Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Met652Lys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Met652Thr Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Met679Thr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Phe115Ile Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Phe180Leu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Phe375Leu Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Phe502Leu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Phe76Ser Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Pro2Ser Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Pro460Ser Uncertain significance Single submitter
hypercholesterolemia, autosomal dominant, type B

Predictors split 46

The independent predictors disagree with each other — read with care.

AMPD1 p.Ala489Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Ala616Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Arg262Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Arg467Cys Uncertain significance Multiple submitters
autism
AMPD1 p.Arg562Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Arg716Trp Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ile407Met Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Lys265Glu Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Met478Val Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ser540Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Trp174Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Tyr206Cys Uncertain significance Multiple submitters
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Val362Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AMPD1 p.Ala143Glu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ala249Val Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ala669Thr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg157Ser Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Arg366His Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Arg467His Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asn203Tyr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Asn245Tyr Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Gln156His Conflicting Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gln420Arg Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Gly563Arg Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.His521Pro Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ile251Leu Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Ile506Thr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu426Val Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Leu688Phe Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Lys342Glu Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Met617Val Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Phe155Leu Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Phe569Tyr Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Pro235Arg Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Pro497Leu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Pro528Leu Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ser126Pro Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ser27Pro Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Ser593Cys Uncertain significance Single submitter
autism
AMPD1 p.Thr566Met Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Thr676Ala Uncertain significance Single submitter
Inborn genetic diseases
AMPD1 p.Tyr218Cys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Tyr353Ser Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Tyr546Cys Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Val444Asp Uncertain significance Single submitter
myopathy due to myoadenylate deaminase deficiency
AMPD1 p.Val554Ala Uncertain significance Single submitter
Inborn genetic diseases

All AMPD1 variants

Pathogenic 1

c.1679+2T>C Single submitter myopathy due to myoadenylate deaminase deficiency

Pathogenic/Likely pathogenic 1

p.Gln653Ter Multiple submitters myopathy due to myoadenylate deaminase deficiency

Likely pathogenic 3

p.Phe41fs Single submitter myopathy due to myoadenylate deaminase deficiency
p.Tyr606Ter Single submitter myopathy due to myoadenylate deaminase deficiency
p.Tyr727Ter Single submitter myopathy due to myoadenylate deaminase deficiency

Conflicting classifications of pathogenicity 30

c.1389-16T>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.215+8G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.216-9C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.35-7_35-4del Single submitter myopathy due to myoadenylate deaminase deficiency
c.381+1G>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.548-9T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.767+18C>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.-15A>G Single submitter Inborn genetic diseases ⚠
p.Arg388Trp Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg425His Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg79Trp Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp193Asn Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp212= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gln156His Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gly171= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gly171Asp Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gly574Glu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ile103= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu390= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu607= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Lys287Ile Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Met310Ile Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Pro2fs Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro48= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ser154= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ser524Thr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Thr108Ile Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Trp455Ter Single submitter myopathy due to myoadenylate deaminase deficiency
p.Tyr397= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Val112Met Single submitter myopathy due to myoadenylate deaminase deficiency ⚠

Benign 46

c.1224+8G>A Multiple submitters myopathy due to myoadenylate deaminase deficiency
c.1388+128C>T Multiple submitters
c.1388+136G>C Multiple submitters
c.1515+85C>T Multiple submitters
c.1975-23T>A Multiple submitters
c.215+10G>A Multiple submitters myopathy due to myoadenylate deaminase deficiency
c.382-6del Multiple submitters myopathy due to myoadenylate deaminase deficiency
c.548-57T>A Multiple submitters
c.768-105C>T Multiple submitters
c.897+31C>G Multiple submitters
p.Asp649= Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Glu488= Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Ile615= Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Lys374= Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Phe637= Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Thr81= Multiple submitters myopathy due to myoadenylate deaminase deficiency
c.1224+59AGGA[10] Single submitter
c.1224+59AGGA[11] Single submitter
c.1224+59AGGA[12] Single submitter
c.1224+59AGGA[14] Single submitter
c.1224+59AGGA[16] Single submitter
c.1224+7C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1388+243C>T Single submitter
c.1388+297C>T Single submitter
c.1389-157T>C Single submitter
c.1389-283C>T Single submitter
c.1680-234C>G Single submitter
c.1801-183G>A Single submitter
c.1801-188C>A Single submitter
c.1801-266G>A Single submitter
c.22+40dup Single submitter
c.22+54del Single submitter
c.34+152T>C Single submitter
c.34+276T>C Single submitter
c.381+205A>G Single submitter
c.382-7_382-6dup Single submitter myopathy due to myoadenylate deaminase deficiency
c.547+169A>G Single submitter
c.548-214G>A Single submitter
c.548-215C>T Single submitter
c.768-11A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.768-149C>T Single submitter
c.898-188T>A Single submitter
p.Asp227= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Phe184= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro602= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro614= Single submitter myopathy due to myoadenylate deaminase deficiency

Benign/Likely benign 4

c.382-6dup Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Arg75His Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Gly33= Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Ser65= Multiple submitters myopathy due to myoadenylate deaminase deficiency

Likely benign 157

p.Asn168= Multiple submitters myopathy due to myoadenylate deaminase deficiency
c.1092+12C>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1092+12C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1092+13G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1093-12T>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1093-12T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1093-13T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1093-4T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1093-5T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1224+15A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1225-12T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1225-13C>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1225-15C>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1388+10T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1388+14C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1388+15A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1388+8C>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1388+8C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1389-13T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1389-15C>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1389-15C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1389-5T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1515+14T>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1515+20C>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1515+7A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1516-14A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1680-20T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1800+12G>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1800+14T>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1800+15C>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1800+16T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1800+7T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1974+16G>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1974+8A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1974+9T>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1974+9T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1975-12A>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1975-18C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1975-20_1975-18dup Single submitter myopathy due to myoadenylate deaminase deficiency
c.2085+13del Single submitter myopathy due to myoadenylate deaminase deficiency
c.2086-11T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.2086-19C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.2086-6T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.2086-7C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.216-5C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.216-8G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.22+15T>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.22+20G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.23-10C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.23-4A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.34+11C>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.34+19T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.35-16T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.381+17C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.381+20T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.381+7T>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.382-18C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.382-19A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.382-5G>T Single submitter
c.382-6T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.547+13T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.547+15A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.547+16del Single submitter myopathy due to myoadenylate deaminase deficiency
c.548-11G>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.548-6A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.767+12del Single submitter myopathy due to myoadenylate deaminase deficiency
c.767+7G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.768-15T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.768-19G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.897+16G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.897+19C>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.898-14G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.898-18C>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.898-9T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.-31T>C Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala125= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala306= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala307= Single submitter
p.Ala412= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala422= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala578= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala711= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg157= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg317= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg461= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg717Lys Single submitter Inborn genetic diseases
p.Asn288= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asn396= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asn713= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asn83= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asp123= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asp170= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asp242= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asp281= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asp31= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asp42= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Cys680= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gln605= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Glu735= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gly520= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gly702= Single submitter myopathy due to myoadenylate deaminase deficiency
p.His314= Single submitter myopathy due to myoadenylate deaminase deficiency
p.His52= Single submitter myopathy due to myoadenylate deaminase deficiency
p.His581= Single submitter myopathy due to myoadenylate deaminase deficiency
p.His594= Single submitter myopathy due to myoadenylate deaminase deficiency
p.His60= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ile491= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ile58= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu208= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu267= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu3= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu316= Single submitter
p.Leu392= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu414= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu535= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu582= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu625= Single submitter
p.Leu642= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu88= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Lys160= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Lys211= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Lys526= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Phe115= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Phe180= Single submitter autism
p.Phe4= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Phe443= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Phe475= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro201= Single submitter autism
p.Pro229= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro40= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro530= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro539= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro87= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ser105= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ser27= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ser39= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ser519= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ser686= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ser85= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Thr111= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Thr302= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Thr490= Single submitter autism
p.Thr584= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Thr63= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Thr657= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Thr68= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Thr94= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Tyr102= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Tyr124= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Tyr332= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Tyr391= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Val273= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Val330= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Val382= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Val554= Single submitter myopathy due to myoadenylate deaminase deficiency
c.22+7G>A No assertion criteria AMPD1-related disorder
p.Ala21= No assertion criteria

Uncertain significance 332

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

c.1388+5G>A Multiple submitters myopathy due to myoadenylate deaminase deficiency
c.1974+1G>A Multiple submitters myopathy due to myoadenylate deaminase deficiency
c.-42C>T Multiple submitters Inborn genetic diseases ⚠
c.-60dup Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Ala308Thr Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Ala489Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala578Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala616Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg142Trp Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Arg147His Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg167Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg167Trp Multiple submitters Inborn genetic diseases
p.Arg18His Multiple submitters Inborn genetic diseases ⚠
p.Arg196Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg262Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg262Trp Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg263Cys Multiple submitters AMPD1-related disorder ⚠
p.Arg263His Multiple submitters Inborn genetic diseases ⚠
p.Arg292Gln Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg317His Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Arg366Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg371Ser Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg388Gln Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg431His Multiple submitters Inborn genetic diseases
p.Arg467Cys Multiple submitters autism ⚠
p.Arg467Pro Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg562Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg562Ter Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Arg570Ter Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Arg716Gln Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Arg716Trp Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg724His Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg728Cys Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg728His Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg75Cys Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg79Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn220Ser Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp14Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp170Val Multiple submitters autism ⚠
p.Asp243Asn Multiple submitters autism ⚠
p.Asp42Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp434Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln110Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln324Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln605Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly213Ser Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.His261Arg Multiple submitters Inborn genetic diseases ⚠
p.His314Gln Multiple submitters Inborn genetic diseases ⚠
p.His474Tyr Multiple submitters Inborn genetic diseases
p.Ile169Met Multiple submitters autism ⚠
p.Ile304Val Multiple submitters Inborn genetic diseases
p.Ile398Val Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Ile407Met Multiple submitters Inborn genetic diseases ⚠
p.Ile407Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile49Asn Multiple submitters Inborn genetic diseases
p.Ile506Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile644Asn Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Ile99Thr Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu344Ile Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Leu598Phe Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Lys230Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys257Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys265Glu Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Lys320Glu Multiple submitters Inborn genetic diseases ⚠
p.Met478Val Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Met587Ile Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Met662Ile Multiple submitters Inborn genetic diseases ⚠
p.Met725Val Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Phe294Cys Multiple submitters Inborn genetic diseases ⚠
p.Phe523Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro660Leu Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Ser154Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser39Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ser440Phe Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Ser540Cys Multiple submitters Inborn genetic diseases ⚠
p.Thr239Ile Multiple submitters Inborn genetic diseases
p.Thr258Ser Multiple submitters myopathy due to myoadenylate deaminase deficiency
p.Thr302Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr580Ile Multiple submitters Inborn genetic diseases
p.Trp174Arg Multiple submitters Inborn genetic diseases ⚠
p.Tyr206Cys Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Tyr705His Multiple submitters Inborn genetic diseases ⚠
p.Tyr729Asp Multiple submitters myopathy due to myoadenylate deaminase deficiency ⚠
p.Val362Ile Multiple submitters Inborn genetic diseases ⚠
p.Val444Ile Multiple submitters myopathy due to myoadenylate deaminase deficiency
c.1224+6G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1224+6G>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1225-16T>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.1679+1G>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1679+1G>T Single submitter myopathy due to myoadenylate deaminase deficiency
c.1680-9T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1801-5T>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.1801-9C>T Single submitter
c.1974+1G>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1974+7T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.1975-10A>G Single submitter
c.2086-3T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.215+1G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.215+6T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.216-17T>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.216-2del Single submitter myopathy due to myoadenylate deaminase deficiency
c.34+1G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.34+3G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.34+5G>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.34+6T>A Single submitter myopathy due to myoadenylate deaminase deficiency
c.35-2A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.35-3T>C Single submitter myopathy due to myoadenylate deaminase deficiency
c.548-3_548-2del Single submitter myopathy due to myoadenylate deaminase deficiency
c.767+3_767+6del Single submitter myopathy due to myoadenylate deaminase deficiency
c.768-2A>G Single submitter myopathy due to myoadenylate deaminase deficiency
c.-30G>A Single submitter autism ⚠
c.-33T>C Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
c.-33T>G Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
c.-45CTT[1] Single submitter myopathy due to myoadenylate deaminase deficiency
c.-69C>G Single submitter autism ⚠
c.-6G>A Single submitter Inborn genetic diseases
p.Ala143Glu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ala21Val Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala222Val Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala249Val Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ala252Ser Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala384Glu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ala404Pro Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ala412Val Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ala495Pro Single submitter Inborn genetic diseases
p.Ala578Val Single submitter Inborn genetic diseases ⚠
p.Ala585Thr Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ala669Thr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg117fs Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg117Gly Single submitter Inborn genetic diseases
p.Arg147Cys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg157Ser Single submitter Inborn genetic diseases ⚠
p.Arg167Gly Single submitter Inborn genetic diseases ⚠
p.Arg18Cys Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg18Leu Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg196Ter Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg292Ter Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg35Cys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg35His Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg35Leu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg366His Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg371Cys Single submitter Inborn genetic diseases ⚠
p.Arg371His Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg425Cys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg447Ser Single submitter myopathy due to myoadenylate deaminase deficiency
p.Arg461Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg461Ser Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg467His Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg570Gln Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg724Cys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg724Leu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Arg724Pro Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asn177Tyr Single submitter Inborn genetic diseases ⚠
p.Asn203Tyr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asn245Tyr Single submitter Inborn genetic diseases ⚠
p.Asn311Lys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asn492Lys Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asn623Asp Single submitter Inborn genetic diseases ⚠
p.Asn632Ile Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asn83Asp Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp132Asn Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asp15Asn Single submitter Inborn genetic diseases ⚠
p.Asp198His Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp243Tyr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp281Glu Single submitter myopathy due to myoadenylate deaminase deficiency
p.Asp31Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp31Val Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp373Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp389Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp389Val Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp464Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp510Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp513Asn Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp514Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp591Ala Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp649Gly Single submitter Inborn genetic diseases ⚠
p.Asp678Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Asp703Asn Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Cys297Tyr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Cys445Tyr Single submitter Inborn genetic diseases ⚠
p.Cys450Trp Single submitter autism
p.Gln110Glu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gln156Lys Single submitter Inborn genetic diseases
p.Gln253His Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gln36Ter Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gln420Arg Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gln55Arg Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gln605Ter Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gln612His Single submitter Inborn genetic diseases ⚠
p.Glu101Gln Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Glu101Ter Single submitter myopathy due to myoadenylate deaminase deficiency
p.Glu279Lys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Glu282Lys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Glu423Ala Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Glu435Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Glu45Ter Single submitter
p.Glu498Gln Single submitter Inborn genetic diseases ⚠
p.Glu532Val Single submitter myopathy due to myoadenylate deaminase deficiency
p.Glu53Lys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Glu62Asp Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Glu681Lys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Glu695= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Glu708Lys Single submitter Inborn genetic diseases ⚠
p.Gly127= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gly213Asp Single submitter Inborn genetic diseases ⚠
p.Gly213Cys Single submitter Inborn genetic diseases ⚠
p.Gly213Val Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gly383Glu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gly563Arg Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gly577Arg Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gly691Ala Single submitter
p.Gly709Asp Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gly712Glu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Gly742Arg Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gly78fs Single submitter myopathy due to myoadenylate deaminase deficiency
p.Gly78Glu Single submitter Inborn genetic diseases ⚠
p.His421Tyr Single submitter myopathy due to myoadenylate deaminase deficiency
p.His51Arg Single submitter ⚠
p.His521Pro Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ile103Thr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ile135fs Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ile169Thr Single submitter Inborn genetic diseases ⚠
p.Ile251Leu Single submitter Inborn genetic diseases ⚠
p.Ile38Thr Single submitter Inborn genetic diseases ⚠
p.Ile462Thr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ile46Ser Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ile49_Ser50insArgThr Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ile506Thr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ile99Met Single submitter Inborn genetic diseases ⚠
p.Leu247fs Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu264Pro Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu267Pro Single submitter Inborn genetic diseases ⚠
p.Leu277Phe Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu286Gln Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu387fs Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu426Val Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu439Arg Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu472Ile Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu604Arg Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu625Val Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu64fs Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu688Phe Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu688Ser Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu701Gln Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Leu706Val Single submitter myopathy due to myoadenylate deaminase deficiency
p.Leu743Ile Single submitter Inborn genetic diseases ⚠
p.Lys270= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Lys30Ile Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Lys320Met Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Lys342Glu Single submitter Inborn genetic diseases ⚠
p.Lys347Gln Single submitter Inborn genetic diseases ⚠
p.Lys95Asn Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Met17Thr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Met1Arg Single submitter myopathy due to myoadenylate deaminase deficiency
p.Met310Thr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Met350Ile Single submitter Inborn genetic diseases ⚠
p.Met456Leu Single submitter myopathy due to myoadenylate deaminase deficiency
p.Met553Ile Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Met583Leu Single submitter myopathy due to myoadenylate deaminase deficiency
p.Met617Val Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Met652Lys Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Met652Thr Single submitter Inborn genetic diseases ⚠
p.Met679Thr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Phe115Ile Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Phe155Leu Single submitter Inborn genetic diseases ⚠
p.Phe180Leu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Phe375Leu Single submitter Inborn genetic diseases ⚠
p.Phe502Leu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Phe569Tyr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Phe76Ser Single submitter Inborn genetic diseases ⚠
p.Pro182= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro231Ser Single submitter Inborn genetic diseases
p.Pro233Leu Single submitter Inborn genetic diseases
p.Pro235Arg Single submitter Inborn genetic diseases ⚠
p.Pro2Ser Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Pro451His Single submitter Inborn genetic diseases
p.Pro460Ser Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Pro497Leu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Pro528Leu Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Pro530Ser Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Pro539Ser Single submitter autism ⚠
p.Pro660His Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Pro7= Single submitter myopathy due to myoadenylate deaminase deficiency
p.Pro87Leu Single submitter Inborn genetic diseases ⚠
p.Ser126Pro Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ser268Pro Single submitter Inborn genetic diseases ⚠
p.Ser27Pro Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ser333Gly Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ser359Pro Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ser440Tyr Single submitter myopathy due to myoadenylate deaminase deficiency
p.Ser593Cys Single submitter autism ⚠
p.Ser65Thr Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Ser67Phe Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Thr111Pro Single submitter Inborn genetic diseases ⚠
p.Thr121Ile Single submitter Inborn genetic diseases ⚠
p.Thr197Ala Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Thr258Ile Single submitter myopathy due to myoadenylate deaminase deficiency ⚠
p.Thr260Ile Single submitter myopathy due to myoadenylate deaminase deficiency
p.Thr334Pro Single submitter myopathy due to myoadenylate deaminase deficiency
p.Thr340Ile Single submitter myopathy due to myoadenylate deaminase deficiency ⚠