SCARB2 — 525 ClinVar variants

All ClinVar germline SCARB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →

20 Pathogenic · 4 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 20 Conflicting · 52 Benign · 10 Benign/Likely benign · 183 Likely benign · 221 Uncertain significance

Full SCARB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 197

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 8

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

SCARB2 p.Arg27Gln Conflicting Single submitter
Inborn genetic diseases
SCARB2 p.Asp194Asn Conflicting Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Ile144Leu Conflicting Single submitter
progressive myoclonus epilepsy
SCARB2 p.Met404Val Conflicting Single submitter
progressive myoclonus epilepsy
SCARB2 p.Met428Val Conflicting Single submitter
Inborn genetic diseases
SCARB2 p.Thr398Met Conflicting Single submitter
progressive myoclonus epilepsy
SCARB2 p.Tyr284Ser Conflicting Single submitter
Inborn genetic diseases
SCARB2 p.Val149Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 152

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 152

SCARB2 p.Ala444Val Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Ala457Pro Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Ala469Val Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Arg424Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Arg477Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Arg82Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Arg82Trp Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Asn105Ile Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Asp263His Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Asp272Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Asp307Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Asp307Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Gln288Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Glu285Gly Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Glu347Lys Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Glu93Lys Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Gly289Glu Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Gly78Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.His171Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Ile353Val Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Ile369Val Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Ile417Val Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Ile434Met Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Ile442Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Ile75Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Leu237Val Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Leu94Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Met443Val Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Phe151Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Phe256Leu Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Pro81Ser Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Ser147Phe Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Ser276Ala Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Thr170Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Thr172Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Thr22Met Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Thr235Met Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Thr403Ile Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Thr421Met Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Thr468Ile Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Thr47Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Thr80Pro Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Tyr117Cys Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Tyr163Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Tyr410Phe Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Tyr65Cys Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Val268Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Ala116Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ala116Thr Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ala333Val Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ala345Glu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ala422Val Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ala444Thr Uncertain significance Single submitter
SCARB2 p.Ala457Thr Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ala49Thr Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Arg27Gly Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Arg294Trp Uncertain significance Single submitter
SCARB2 p.Arg348Lys Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Arg382Lys Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Arg3Gln Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Arg424Leu Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Arg77Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Arg82Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Arg95Gly Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Asn206His Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Asn304Asp Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Asn317Lys Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Asn71Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Asn99Asp Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Asp122Glu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Asp182Gly Uncertain significance Single submitter
SCARB2 p.Asp212Asn Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Asp243Asn Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Asp243His Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Asp465Asn Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Cys318Phe Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Cys329Tyr Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Cys458Phe Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Gln148Arg Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Gln164Glu Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Gln35His Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Glu157Lys Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Glu175Gln Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Glu315Asp Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Glu413Lys Uncertain significance Single submitter
SCARB2 p.Glu54Lys Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Glu79Asp Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Gly289Arg Uncertain significance Single submitter
SCARB2 p.Gly460Arg Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.His171Tyr Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ile155Met Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ile155Val Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ile195Val Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Ile241Met Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Ile301Met Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ile301Val Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ile328Val Uncertain significance Single submitter
SCARB2 p.Ile353Met Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Ile37Val Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Ile401Ser Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Ile401Val Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ile434Val Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Ile435Val Uncertain significance Single submitter
SCARB2 p.Ile438Val Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Leu141Trp Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Leu176Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Leu223Val Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Leu302Ser Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Leu58Val Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Lys181Gln Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Lys381Arg Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Lys391Thr Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Lys419Glu Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Lys459Arg Uncertain significance Single submitter
SCARB2 p.Lys459Glu Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Met159Thr Uncertain significance Single submitter
SCARB2 p.Met356Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Met428Thr Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Phe151Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Phe202Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Pro439Arg Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Pro439Leu Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Pro56Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Pro88Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Pro88Thr Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Ser110Pro Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ser255Phe Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ser423Asn Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Thr170Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Thr251Ile Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Thr261Ala Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Thr280Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Thr436Ile Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Thr468Arg Uncertain significance Single submitter
action myoclonus-renal failure syndrome
SCARB2 p.Thr478Asn Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Thr80Asn Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Thr90Pro Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Trp455Cys Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Tyr180Cys Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Tyr213Phe Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Tyr213Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Val118Gly Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Val214Ala Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Val21Ala Uncertain significance Single submitter
SCARB2 p.Val28Asp Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Val297Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Val323Ile Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Val447Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Val60Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Val86Met Uncertain significance Single submitter
progressive myoclonus epilepsy

Predictors split 37

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

SCARB2 p.Arg294Gln Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Arg472Ser Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Asn249Ser Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Asn304Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Asn68Ser Uncertain significance Multiple submitters
action myoclonus-renal failure syndrome
SCARB2 p.Asp127Tyr Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Glu175Lys Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Glu471Val Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Gly126Ala Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Gly310Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Ile438Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Met356Thr Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Pro57Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Thr305Met Uncertain significance Multiple submitters
Inborn genetic diseases
SCARB2 p.Tyr198Cys Uncertain significance Multiple submitters
progressive myoclonus epilepsy
SCARB2 p.Arg27Trp Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Asn412Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Asp122Val Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Asp238Gly Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Cys4Tyr Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Glu84Gly Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Ile417Phe Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Leu290Gln Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Leu324Val Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Met443Ile Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Phe168Leu Conflicting Single submitter
progressive myoclonus epilepsy
SCARB2 p.Phe339Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Phe366Ser Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Pro128Ala Conflicting Single submitter
Inborn genetic diseases
SCARB2 p.Pro57Ala Uncertain significance Single submitter
Inborn genetic diseases
SCARB2 p.Ser321Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Thr373Ile Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Trp239Leu Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Tyr222His Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Tyr278Cys Uncertain significance Single submitter
progressive myoclonus epilepsy
SCARB2 p.Tyr284Cys Uncertain significance Single submitter
SCARB2 p.Tyr440Cys Uncertain significance Single submitter
progressive myoclonus epilepsy

All SCARB2 variants

Pathogenic 20

c.704+1G>A Multiple submitters action myoclonus-renal failure syndrome
p.Arg424Ter Multiple submitters action myoclonus-renal failure syndrome
p.Gln288Ter Multiple submitters progressive myoclonus epilepsy
p.Leu319fs Multiple submitters progressive myoclonus epilepsy
p.Trp146fs Multiple submitters SCARB2-related disorder
c.994+1G>T Single submitter action myoclonus-renal failure syndrome
p.Asn45fs Single submitter action myoclonus-renal failure syndrome
p.Gln344Ter Single submitter progressive myoclonus epilepsy
p.Gly446fs Single submitter
p.His341fs Single submitter action myoclonus-renal failure syndrome
p.Leu76fs Single submitter progressive myoclonus epilepsy
p.Thr421fs Single submitter progressive myoclonus epilepsy
p.Tyr213fs Single submitter progressive myoclonus epilepsy
p.Tyr222_Asn224delinsTer Single submitter progressive myoclonus epilepsy
p.Tyr284fs Single submitter progressive myoclonus epilepsy
c.1114-2A>C No assertion criteria action myoclonus-renal failure syndrome
c.1239+1G>T No assertion criteria action myoclonus-renal failure syndrome
p.Gln123fs No assertion criteria action myoclonus-renal failure syndrome
p.Glu420fs No assertion criteria action myoclonus-renal failure syndrome
p.Trp178Ter No assertion criteria action myoclonus-renal failure syndrome

Pathogenic/Likely pathogenic 4

p.Arg121Ter Multiple submitters progressive myoclonus epilepsy
p.Gln30Ter Multiple submitters progressive myoclonus epilepsy
p.Glu79fs Multiple submitters progressive myoclonus epilepsy
p.Ile335fs Multiple submitters action myoclonus-renal failure syndrome

Likely pathogenic 15

c.1113+1G>T Single submitter progressive myoclonus epilepsy
c.1114-2A>G Single submitter action myoclonus-renal failure syndrome
c.117+2T>C Single submitter action myoclonus-renal failure syndrome
c.1187+1G>A Single submitter progressive myoclonus epilepsy
c.1240-2A>C Single submitter action myoclonus-renal failure syndrome
c.1240-2A>G Single submitter progressive myoclonus epilepsy
c.424-1G>A Single submitter progressive myoclonus epilepsy
c.994+2T>C Single submitter action myoclonus-renal failure syndrome
c.995-16_1062delinsG Single submitter progressive myoclonus epilepsy
p.Arg348fs Single submitter action myoclonus-renal failure syndrome
p.Gly460Ter Single submitter SCARB2-related disorder
p.Ile144fs Single submitter
p.Leu392fs Single submitter
p.Leu451fs Single submitter action myoclonus-renal failure syndrome
p.Ile37fs No assertion criteria action myoclonus-renal failure syndrome

Conflicting classifications of pathogenicity 20

c.117+15G>T Single submitter action myoclonus-renal failure syndrome
c.1187+2dup Single submitter progressive myoclonus epilepsy
c.276-7_276-5del Single submitter progressive myoclonus epilepsy
c.424-4G>A Single submitter Inborn genetic diseases
c.424-5C>T Single submitter Inborn genetic diseases
p.Ala162= Single submitter progressive myoclonus epilepsy
p.Arg27Gln Single submitter Inborn genetic diseases ⚠
p.Asp194Asn Single submitter action myoclonus-renal failure syndrome ⚠
p.Ile130= Single submitter progressive myoclonus epilepsy
p.Ile144Leu Single submitter progressive myoclonus epilepsy ⚠
p.Leu372= Single submitter progressive myoclonus epilepsy
p.Met404Val Single submitter progressive myoclonus epilepsy ⚠
p.Met428Val Single submitter Inborn genetic diseases ⚠
p.Phe168Leu Single submitter progressive myoclonus epilepsy ⚠
p.Pro128Ala Single submitter Inborn genetic diseases ⚠
p.Thr398Met Single submitter progressive myoclonus epilepsy ⚠
p.Thr8= Single submitter progressive myoclonus epilepsy
p.Trp455Ter Single submitter progressive myoclonus epilepsy
p.Tyr284Ser Single submitter Inborn genetic diseases ⚠
p.Val149Met Single submitter Inborn genetic diseases ⚠

Benign 52

c.1113+14T>A Multiple submitters progressive myoclonus epilepsy
c.118-27G>A Multiple submitters
c.118-79C>T Multiple submitters
c.1187+57G>A Multiple submitters
c.1187+81C>G Multiple submitters
c.1188-250C>A Multiple submitters
c.1240-53A>G Multiple submitters
c.1399-178T>A Multiple submitters
c.1399-220G>T Multiple submitters
c.423+101G>C Multiple submitters
c.423+135C>T Multiple submitters
c.423+249G>A Multiple submitters
c.424-43T>C Multiple submitters action myoclonus-renal failure syndrome
c.613-77A>G Multiple submitters
c.704+254G>A Multiple submitters
c.705-126G>A Multiple submitters
c.705-74A>G Multiple submitters
c.824+101G>A Multiple submitters
c.825-108G>A Multiple submitters
c.825-123C>T Multiple submitters
c.994+26T>C Multiple submitters
c.994+82G>A Multiple submitters
c.995-53_995-49del Multiple submitters
c.-174C>T Multiple submitters
c.-90G>A Multiple submitters
c.*117G>A Multiple submitters
c.*67C>G Multiple submitters
p.Arg121Gln Multiple submitters Inborn genetic diseases
p.Leu16= Multiple submitters Inborn genetic diseases
c.1114-299G>C Single submitter
c.117+115G>A Single submitter
c.117+296del Single submitter
c.118-208C>T Single submitter
c.118-292C>T Single submitter
c.1187+245C>G Single submitter
c.1399-169_1399-167del Single submitter
c.1399-280C>T Single submitter
c.275+201C>T Single submitter
c.275+7C>T Single submitter progressive myoclonus epilepsy
c.276-169C>T Single submitter
c.423+470G>C Single submitter
c.424-210A>G Single submitter
c.612+227T>C Single submitter
c.613-270C>T Single submitter
c.704+217T>G Single submitter
c.824+167A>G Single submitter
c.824+258C>T Single submitter
c.994+154T>C Single submitter
c.994+249T>C Single submitter
c.994+48G>C Single submitter
c.-23C>G Single submitter
c.-27C>G Single submitter

Benign/Likely benign 10

c.1239+14C>T Multiple submitters progressive myoclonus epilepsy
c.275+20T>C Multiple submitters action myoclonus-renal failure syndrome
c.704+16T>C Multiple submitters progressive myoclonus epilepsy
p.Arg82= Multiple submitters progressive myoclonus epilepsy
p.Gly462Glu Multiple submitters progressive myoclonus epilepsy
p.His189= Multiple submitters action myoclonus-renal failure syndrome
p.Met159Val Multiple submitters progressive myoclonus epilepsy
p.Pro57= Multiple submitters action myoclonus-renal failure syndrome
p.Thr11= Multiple submitters action myoclonus-renal failure syndrome
p.Val396Ile Multiple submitters focal segmental glomerulosclerosis

Likely benign 183

c.117+14G>A Multiple submitters progressive myoclonus epilepsy
c.117+19T>C Multiple submitters progressive myoclonus epilepsy
c.117+74T>A Multiple submitters
c.1187+12T>C Multiple submitters progressive myoclonus epilepsy
c.1187+18C>T Multiple submitters progressive myoclonus epilepsy
c.1187+20A>G Multiple submitters progressive myoclonus epilepsy
c.1188-11del Multiple submitters progressive myoclonus epilepsy
c.1240-18A>G Multiple submitters progressive myoclonus epilepsy
c.1398+10_1398+22del Multiple submitters progressive myoclonus epilepsy
c.1399-206A>G Multiple submitters
c.275+14A>G Multiple submitters progressive myoclonus epilepsy
c.276-17C>T Multiple submitters progressive myoclonus epilepsy
c.276-7C>G Multiple submitters progressive myoclonus epilepsy
c.423+7A>C Multiple submitters progressive myoclonus epilepsy
c.704+17A>G Multiple submitters progressive myoclonus epilepsy
c.705-183G>T Multiple submitters
c.705-20C>G Multiple submitters progressive myoclonus epilepsy
c.824+18A>G Multiple submitters progressive myoclonus epilepsy
c.824+20G>A Multiple submitters progressive myoclonus epilepsy
c.995-79G>A Multiple submitters
c.-321A>C Multiple submitters
p.Ala299= Multiple submitters progressive myoclonus epilepsy
p.Ala309= Multiple submitters progressive myoclonus epilepsy
p.Ala422= Multiple submitters progressive myoclonus epilepsy
p.Ala469= Multiple submitters progressive myoclonus epilepsy
p.Arg134= Multiple submitters progressive myoclonus epilepsy
p.Arg3= Multiple submitters progressive myoclonus epilepsy
p.Asp174= Multiple submitters action myoclonus-renal failure syndrome
p.Asp194= Multiple submitters progressive myoclonus epilepsy
p.His363= Multiple submitters progressive myoclonus epilepsy
p.Ile156= Multiple submitters progressive myoclonus epilepsy
p.Leu302= Multiple submitters progressive myoclonus epilepsy
p.Leu76= Multiple submitters progressive myoclonus epilepsy
p.Lys31= Multiple submitters Inborn genetic diseases
p.Lys97= Multiple submitters progressive myoclonus epilepsy
p.Pro193= Multiple submitters progressive myoclonus epilepsy
p.Thr398= Multiple submitters progressive myoclonus epilepsy
p.Val415= Multiple submitters Inborn genetic diseases
c.1113+12C>T Single submitter progressive myoclonus epilepsy
c.1113+16C>T Single submitter progressive myoclonus epilepsy
c.1113+19C>G Single submitter progressive myoclonus epilepsy
c.1114-13C>T Single submitter progressive myoclonus epilepsy
c.1114-15T>C Single submitter progressive myoclonus epilepsy
c.1114-18C>T Single submitter progressive myoclonus epilepsy
c.1114-19T>G Single submitter progressive myoclonus epilepsy
c.117+10G>A Single submitter progressive myoclonus epilepsy
c.117+13G>A Single submitter progressive myoclonus epilepsy
c.117+9G>A Single submitter progressive myoclonus epilepsy
c.118-10T>G Single submitter progressive myoclonus epilepsy
c.118-12G>T Single submitter progressive myoclonus epilepsy
c.118-14T>C Single submitter progressive myoclonus epilepsy
c.118-19_118-17del Single submitter progressive myoclonus epilepsy
c.118-7T>C Single submitter progressive myoclonus epilepsy
c.1187+10G>C Single submitter progressive myoclonus epilepsy
c.1187+13T>C Single submitter progressive myoclonus epilepsy
c.1187+95T>G Single submitter
c.1188-15C>T Single submitter progressive myoclonus epilepsy
c.1188-19T>G Single submitter progressive myoclonus epilepsy
c.1188-259C>G Single submitter
c.1188-5T>C Single submitter progressive myoclonus epilepsy
c.1239+12G>A Single submitter progressive myoclonus epilepsy
c.1239+14_1239+17dup Single submitter progressive myoclonus epilepsy
c.1239+15G>A Single submitter progressive myoclonus epilepsy
c.1239+8C>G Single submitter progressive myoclonus epilepsy
c.1240-15T>G Single submitter progressive myoclonus epilepsy
c.1240-20C>T Single submitter
c.1240-4C>T Single submitter progressive myoclonus epilepsy
c.1240-6C>G Single submitter progressive myoclonus epilepsy
c.1240-9C>T Single submitter progressive myoclonus epilepsy
c.1398+14dup Single submitter progressive myoclonus epilepsy
c.1398+8C>A Single submitter progressive myoclonus epilepsy
c.1398+8C>T Single submitter progressive myoclonus epilepsy
c.1399-10T>G Single submitter
c.1399-11C>G Single submitter progressive myoclonus epilepsy
c.1399-13T>C Single submitter progressive myoclonus epilepsy
c.1399-15T>A Single submitter progressive myoclonus epilepsy
c.1399-16C>G Single submitter progressive myoclonus epilepsy
c.1399-16C>T Single submitter progressive myoclonus epilepsy
c.1399-8T>C Single submitter progressive myoclonus epilepsy
c.275+12C>A Single submitter progressive myoclonus epilepsy
c.275+16C>A Single submitter progressive myoclonus epilepsy
c.276-10T>G Single submitter progressive myoclonus epilepsy
c.276-18C>T Single submitter progressive myoclonus epilepsy
c.276-272C>T Single submitter
c.276-6T>C Single submitter progressive myoclonus epilepsy
c.424-18T>G Single submitter progressive myoclonus epilepsy
c.612+15C>G Single submitter progressive myoclonus epilepsy
c.612+8G>A Single submitter progressive myoclonus epilepsy
c.612+9A>G Single submitter progressive myoclonus epilepsy
c.613-11C>T Single submitter progressive myoclonus epilepsy
c.613-14T>G Single submitter progressive myoclonus epilepsy
c.613-16A>C Single submitter progressive myoclonus epilepsy
c.613-7T>C Single submitter progressive myoclonus epilepsy
c.705-12T>C Single submitter progressive myoclonus epilepsy
c.705-16T>G Single submitter progressive myoclonus epilepsy
c.705-19T>C Single submitter progressive myoclonus epilepsy
c.825-13T>C Single submitter progressive myoclonus epilepsy
c.825-17T>C Single submitter progressive myoclonus epilepsy
c.825-20T>C Single submitter progressive myoclonus epilepsy
c.825-8C>T Single submitter progressive myoclonus epilepsy
c.994+11A>G Single submitter progressive myoclonus epilepsy
c.994+19G>T Single submitter progressive myoclonus epilepsy
c.994+280A>G Single submitter
c.-11C>T Single submitter
c.-148G>C Single submitter
c.-16G>A Single submitter
c.-18C>T Single submitter
c.-44C>A Single submitter
c.-48G>A Single submitter
c.-58C>A Single submitter
p.Ala116= Single submitter progressive myoclonus epilepsy
p.Ala26= Single submitter progressive myoclonus epilepsy
p.Ala32= Single submitter progressive myoclonus epilepsy
p.Ala352= Single submitter progressive myoclonus epilepsy
p.Ala379= Single submitter Inborn genetic diseases
p.Ala444= Single submitter progressive myoclonus epilepsy
p.Ala457= Single submitter progressive myoclonus epilepsy
p.Ala49= Single submitter progressive myoclonus epilepsy
p.Arg153= Single submitter progressive myoclonus epilepsy
p.Arg27= Single submitter progressive myoclonus epilepsy
p.Arg77= Single submitter progressive myoclonus epilepsy
p.Asn105= Single submitter progressive myoclonus epilepsy
p.Asn137= Single submitter progressive myoclonus epilepsy
p.Asn68= Single submitter progressive myoclonus epilepsy
p.Asp307= Single submitter progressive myoclonus epilepsy
p.Asp362= Single submitter progressive myoclonus epilepsy
p.Asp393= Single submitter progressive myoclonus epilepsy
p.Asp394= Single submitter progressive myoclonus epilepsy
p.Cys4= Single submitter progressive myoclonus epilepsy
p.Gln101= Single submitter progressive myoclonus epilepsy
p.Gln148= Single submitter progressive myoclonus epilepsy
p.Gln165= Single submitter progressive myoclonus epilepsy
p.Glu183= Single submitter progressive myoclonus epilepsy
p.Glu230= Single submitter progressive myoclonus epilepsy
p.Glu38= Single submitter progressive myoclonus epilepsy
p.Gly207= Single submitter progressive myoclonus epilepsy
p.Gly320= Single submitter progressive myoclonus epilepsy
p.Gly462= Single submitter progressive myoclonus epilepsy
p.Gly78= Single submitter progressive myoclonus epilepsy
p.Ile195= Single submitter progressive myoclonus epilepsy
p.Ile228= Single submitter progressive myoclonus epilepsy
p.Ile335= Single submitter progressive myoclonus epilepsy
p.Ile369= Single submitter progressive myoclonus epilepsy
p.Ile387= Single submitter progressive myoclonus epilepsy
p.Ile435= Single submitter progressive myoclonus epilepsy
p.Leu176= Single submitter progressive myoclonus epilepsy
p.Leu185= Single submitter
p.Leu24= Single submitter progressive myoclonus epilepsy
p.Leu411= Single submitter progressive myoclonus epilepsy
p.Leu425= Single submitter progressive myoclonus epilepsy
p.Leu43= Single submitter progressive myoclonus epilepsy
p.Leu475= Single submitter progressive myoclonus epilepsy
p.Leu58= Single submitter progressive myoclonus epilepsy
p.Lys115= Single submitter progressive myoclonus epilepsy
p.Phe202= Single submitter progressive myoclonus epilepsy
p.Phe293= Single submitter progressive myoclonus epilepsy
p.Phe342= Single submitter progressive myoclonus epilepsy
p.Phe6= Single submitter progressive myoclonus epilepsy
p.Phe67= Single submitter progressive myoclonus epilepsy
p.Pro270= Single submitter Inborn genetic diseases
p.Pro439= Single submitter progressive myoclonus epilepsy
p.Pro56= Single submitter Inborn genetic diseases
p.Pro88= Single submitter progressive myoclonus epilepsy
p.Ser124= Single submitter progressive myoclonus epilepsy
p.Ser13= Single submitter progressive myoclonus epilepsy
p.Ser196= Single submitter progressive myoclonus epilepsy
p.Ser286= Single submitter progressive myoclonus epilepsy
p.Ser338= Single submitter progressive myoclonus epilepsy
p.Ser414= Single submitter progressive myoclonus epilepsy
p.Thr135= Single submitter progressive myoclonus epilepsy
p.Thr19= Single submitter progressive myoclonus epilepsy
p.Thr226= Single submitter progressive myoclonus epilepsy
p.Thr305= Single submitter progressive myoclonus epilepsy
p.Thr373= Single submitter progressive myoclonus epilepsy
p.Thr421= Single submitter progressive myoclonus epilepsy
p.Thr47= Single submitter progressive myoclonus epilepsy
p.Tyr198= Single submitter progressive myoclonus epilepsy
p.Tyr388= Single submitter progressive myoclonus epilepsy
p.Tyr410= Single submitter progressive myoclonus epilepsy
p.Tyr7= Single submitter progressive myoclonus epilepsy
p.Val28= Single submitter progressive myoclonus epilepsy
p.Val408= Single submitter progressive myoclonus epilepsy
p.Val83= Single submitter progressive myoclonus epilepsy

Uncertain significance 221

c.1188-3T>C Multiple submitters action myoclonus-renal failure syndrome
c.612+5G>A Multiple submitters progressive myoclonus epilepsy
c.704+5G>A Multiple submitters action myoclonus-renal failure syndrome
c.825-3C>T Multiple submitters progressive myoclonus epilepsy
p.Ala379Val Multiple submitters Inborn genetic diseases
p.Ala444Val Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Ala457Pro Multiple submitters progressive myoclonus epilepsy ⚠
p.Ala469Val Multiple submitters Inborn genetic diseases ⚠
p.Arg294Gln Multiple submitters progressive myoclonus epilepsy ⚠
p.Arg424Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg472Ser Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Arg477Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg82Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg82Trp Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Asn105Ile Multiple submitters progressive myoclonus epilepsy ⚠
p.Asn249Ser Multiple submitters progressive myoclonus epilepsy ⚠
p.Asn304Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn68Ser Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Asp127Tyr Multiple submitters progressive myoclonus epilepsy ⚠
p.Asp263His Multiple submitters Inborn genetic diseases ⚠
p.Asp272Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp307Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp307Asn Multiple submitters Inborn genetic diseases ⚠
p.Gln288Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu175Lys Multiple submitters progressive myoclonus epilepsy ⚠
p.Glu285Gly Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Glu347Lys Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Glu471Val Multiple submitters progressive myoclonus epilepsy ⚠
p.Glu93Lys Multiple submitters progressive myoclonus epilepsy ⚠
p.Gly126Ala Multiple submitters progressive myoclonus epilepsy ⚠
p.Gly289Glu Multiple submitters progressive myoclonus epilepsy ⚠
p.Gly310Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly78Arg Multiple submitters Inborn genetic diseases ⚠
p.His171Pro Multiple submitters Inborn genetic diseases ⚠
p.Ile100Thr Multiple submitters progressive myoclonus epilepsy
p.Ile353Val Multiple submitters Inborn genetic diseases ⚠
p.Ile369Val Multiple submitters progressive myoclonus epilepsy ⚠
p.Ile417Val Multiple submitters progressive myoclonus epilepsy ⚠
p.Ile434Met Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Ile438Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile442Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile75Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu237Val Multiple submitters Inborn genetic diseases ⚠
p.Leu94Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys39= Multiple submitters action myoclonus-renal failure syndrome
p.Met337Thr Multiple submitters Inborn genetic diseases
p.Met356Thr Multiple submitters progressive myoclonus epilepsy ⚠
p.Met443Thr Multiple submitters progressive myoclonus epilepsy
p.Met443Val Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Phe151Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe256Leu Multiple submitters progressive myoclonus epilepsy ⚠
p.Pro128Ser Multiple submitters Inborn genetic diseases
p.Pro57Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro81Ser Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Ser13Phe Multiple submitters Inborn genetic diseases
p.Ser147Phe Multiple submitters progressive myoclonus epilepsy ⚠
p.Ser276Ala Multiple submitters progressive myoclonus epilepsy ⚠
p.Thr170Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr172Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr22Met Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Thr235Met Multiple submitters action myoclonus-renal failure syndrome ⚠
p.Thr305Met Multiple submitters Inborn genetic diseases ⚠
p.Thr403Ile Multiple submitters progressive myoclonus epilepsy ⚠
p.Thr421Met Multiple submitters progressive myoclonus epilepsy ⚠
p.Thr468Ile Multiple submitters progressive myoclonus epilepsy ⚠
p.Thr47Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr80Pro Multiple submitters progressive myoclonus epilepsy ⚠
p.Tyr117Cys Multiple submitters progressive myoclonus epilepsy ⚠
p.Tyr163Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr198Cys Multiple submitters progressive myoclonus epilepsy ⚠
p.Tyr410Phe Multiple submitters progressive myoclonus epilepsy ⚠
p.Tyr65Cys Multiple submitters progressive myoclonus epilepsy ⚠
p.Val268Ile Multiple submitters Inborn genetic diseases ⚠
c.1114-3C>T Single submitter progressive myoclonus epilepsy
c.117+3G>A Single submitter progressive myoclonus epilepsy
c.117+6G>C Single submitter progressive myoclonus epilepsy
c.118-3T>G Single submitter progressive myoclonus epilepsy
c.1398+3G>A Single submitter
c.424-19A>G Single submitter progressive myoclonus epilepsy
c.613-6T>G Single submitter action myoclonus-renal failure syndrome
c.705-3T>C Single submitter progressive myoclonus epilepsy
c.705-7A>G Single submitter progressive myoclonus epilepsy
c.995-7A>G Single submitter
c.-17C>G Single submitter
p.Ala116Ser Single submitter progressive myoclonus epilepsy ⚠
p.Ala116Thr Single submitter progressive myoclonus epilepsy ⚠
p.Ala333Val Single submitter progressive myoclonus epilepsy ⚠
p.Ala345Glu Single submitter progressive myoclonus epilepsy ⚠
p.Ala422Val Single submitter progressive myoclonus epilepsy ⚠
p.Ala444Thr Single submitter ⚠
p.Ala457Thr Single submitter progressive myoclonus epilepsy ⚠
p.Ala49Thr Single submitter action myoclonus-renal failure syndrome ⚠
p.Arg27Gly Single submitter action myoclonus-renal failure syndrome ⚠
p.Arg27Trp Single submitter progressive myoclonus epilepsy ⚠
p.Arg294Trp Single submitter ⚠
p.Arg348Lys Single submitter progressive myoclonus epilepsy ⚠
p.Arg382Lys Single submitter Inborn genetic diseases ⚠
p.Arg3Gln Single submitter progressive myoclonus epilepsy ⚠
p.Arg424Leu Single submitter action myoclonus-renal failure syndrome ⚠
p.Arg77Ser Single submitter progressive myoclonus epilepsy ⚠
p.Arg82Leu Single submitter progressive myoclonus epilepsy ⚠
p.Arg95Gly Single submitter Inborn genetic diseases ⚠
p.Asn206His Single submitter action myoclonus-renal failure syndrome ⚠
p.Asn304Asp Single submitter progressive myoclonus epilepsy ⚠
p.Asn317Lys Single submitter progressive myoclonus epilepsy ⚠
p.Asn412Ser Single submitter progressive myoclonus epilepsy ⚠
p.Asn71Ser Single submitter progressive myoclonus epilepsy ⚠
p.Asn99Asp Single submitter Inborn genetic diseases ⚠
p.Asp122Glu Single submitter progressive myoclonus epilepsy ⚠
p.Asp122Val Single submitter progressive myoclonus epilepsy ⚠
p.Asp127Glu Single submitter progressive myoclonus epilepsy
p.Asp182Gly Single submitter ⚠
p.Asp210Asn Single submitter action myoclonus-renal failure syndrome
p.Asp212Asn Single submitter Inborn genetic diseases ⚠
p.Asp238Gly Single submitter progressive myoclonus epilepsy ⚠
p.Asp243Asn Single submitter progressive myoclonus epilepsy ⚠
p.Asp243His Single submitter action myoclonus-renal failure syndrome ⚠
p.Asp465Asn Single submitter progressive myoclonus epilepsy ⚠
p.Cys318Phe Single submitter progressive myoclonus epilepsy ⚠
p.Cys329Tyr Single submitter progressive myoclonus epilepsy ⚠
p.Cys458Phe Single submitter progressive myoclonus epilepsy ⚠
p.Cys4Tyr Single submitter progressive myoclonus epilepsy ⚠
p.Gln148Arg Single submitter progressive myoclonus epilepsy ⚠
p.Gln164Glu Single submitter Inborn genetic diseases ⚠
p.Gln35His Single submitter progressive myoclonus epilepsy ⚠
p.Gln461fs Single submitter progressive myoclonus epilepsy
p.Glu157Lys Single submitter progressive myoclonus epilepsy ⚠
p.Glu175Gln Single submitter progressive myoclonus epilepsy ⚠
p.Glu315Asp Single submitter Inborn genetic diseases ⚠
p.Glu413Lys Single submitter ⚠
p.Glu54Lys Single submitter progressive myoclonus epilepsy ⚠
p.Glu79Asp Single submitter progressive myoclonus epilepsy ⚠
p.Glu84Gly Single submitter progressive myoclonus epilepsy ⚠
p.Gly179= Single submitter action myoclonus-renal failure syndrome
p.Gly289Arg Single submitter ⚠
p.Gly460Arg Single submitter progressive myoclonus epilepsy ⚠
p.His171Tyr Single submitter progressive myoclonus epilepsy ⚠
p.Ile155Met Single submitter progressive myoclonus epilepsy ⚠
p.Ile155Val Single submitter progressive myoclonus epilepsy ⚠
p.Ile195Ser Single submitter progressive myoclonus epilepsy
p.Ile195Val Single submitter Inborn genetic diseases ⚠
p.Ile241Met Single submitter action myoclonus-renal failure syndrome ⚠
p.Ile301Met Single submitter progressive myoclonus epilepsy ⚠
p.Ile301Val Single submitter progressive myoclonus epilepsy ⚠
p.Ile328Val Single submitter ⚠
p.Ile353Met Single submitter Inborn genetic diseases ⚠
p.Ile37Val Single submitter action myoclonus-renal failure syndrome ⚠
p.Ile401Ser Single submitter Inborn genetic diseases ⚠
p.Ile401Val Single submitter progressive myoclonus epilepsy ⚠
p.Ile417Phe Single submitter progressive myoclonus epilepsy ⚠
p.Ile434Val Single submitter Inborn genetic diseases ⚠
p.Ile435Val Single submitter ⚠
p.Ile438Val Single submitter progressive myoclonus epilepsy ⚠
p.Leu141Trp Single submitter Inborn genetic diseases ⚠
p.Leu176Ser Single submitter progressive myoclonus epilepsy ⚠
p.Leu223Val Single submitter action myoclonus-renal failure syndrome ⚠
p.Leu290Gln Single submitter progressive myoclonus epilepsy ⚠
p.Leu302Ser Single submitter Inborn genetic diseases ⚠
p.Leu324Val Single submitter progressive myoclonus epilepsy ⚠
p.Leu58Val Single submitter progressive myoclonus epilepsy ⚠
p.Lys115Gln Single submitter progressive myoclonus epilepsy
p.Lys181Gln Single submitter progressive myoclonus epilepsy ⚠
p.Lys381Arg Single submitter progressive myoclonus epilepsy ⚠
p.Lys391Thr Single submitter progressive myoclonus epilepsy ⚠
p.Lys419Glu Single submitter Inborn genetic diseases ⚠
p.Lys459Arg Single submitter ⚠
p.Lys459Glu Single submitter action myoclonus-renal failure syndrome ⚠
p.Met159Thr Single submitter ⚠
p.Met247del Single submitter progressive myoclonus epilepsy
p.Met356Leu Single submitter progressive myoclonus epilepsy ⚠
p.Met428Thr Single submitter progressive myoclonus epilepsy ⚠
p.Met443Ile Single submitter progressive myoclonus epilepsy ⚠
p.Phe151Leu Single submitter progressive myoclonus epilepsy ⚠
p.Phe202Ser Single submitter progressive myoclonus epilepsy ⚠
p.Phe339Leu Single submitter progressive myoclonus epilepsy ⚠
p.Phe366Ser Single submitter progressive myoclonus epilepsy ⚠
p.Pro439Arg Single submitter action myoclonus-renal failure syndrome ⚠
p.Pro439Leu Single submitter Inborn genetic diseases ⚠
p.Pro56Ser Single submitter progressive myoclonus epilepsy ⚠
p.Pro57Ala Single submitter Inborn genetic diseases ⚠
p.Pro88Leu Single submitter progressive myoclonus epilepsy ⚠
p.Pro88Thr Single submitter Inborn genetic diseases ⚠
p.Ser110Pro Single submitter progressive myoclonus epilepsy ⚠
p.Ser255Phe Single submitter progressive myoclonus epilepsy ⚠
p.Ser321Leu Single submitter progressive myoclonus epilepsy ⚠
p.Ser423Asn Single submitter action myoclonus-renal failure syndrome ⚠
p.Thr170Ser Single submitter progressive myoclonus epilepsy ⚠
p.Thr19_Val25del Single submitter progressive myoclonus epilepsy
p.Thr235= Single submitter progressive myoclonus epilepsy
p.Thr251Ile Single submitter progressive myoclonus epilepsy ⚠
p.Thr261Ala Single submitter progressive myoclonus epilepsy ⚠
p.Thr280Ser Single submitter progressive myoclonus epilepsy ⚠
p.Thr373Ile Single submitter progressive myoclonus epilepsy ⚠
p.Thr436Ile Single submitter progressive myoclonus epilepsy ⚠
p.Thr468Arg Single submitter action myoclonus-renal failure syndrome ⚠
p.Thr478Asn Single submitter progressive myoclonus epilepsy ⚠
p.Thr478fs Single submitter progressive myoclonus epilepsy
p.Thr80Asn Single submitter Inborn genetic diseases ⚠
p.Thr90Pro Single submitter progressive myoclonus epilepsy ⚠
p.Trp239Leu Single submitter progressive myoclonus epilepsy ⚠
p.Trp455Cys Single submitter progressive myoclonus epilepsy ⚠
p.Tyr180Cys Single submitter Inborn genetic diseases ⚠
p.Tyr213Phe Single submitter progressive myoclonus epilepsy ⚠
p.Tyr213Ser Single submitter progressive myoclonus epilepsy ⚠
p.Tyr222His Single submitter progressive myoclonus epilepsy ⚠
p.Tyr278Cys Single submitter progressive myoclonus epilepsy ⚠
p.Tyr284Cys Single submitter ⚠
p.Tyr440Cys Single submitter progressive myoclonus epilepsy ⚠
p.Val118Gly Single submitter progressive myoclonus epilepsy ⚠
p.Val214Ala Single submitter Inborn genetic diseases ⚠
p.Val21Ala Single submitter ⚠
p.Val28Asp Single submitter Inborn genetic diseases ⚠
p.Val297Leu Single submitter progressive myoclonus epilepsy ⚠
p.Val323Ile Single submitter progressive myoclonus epilepsy ⚠
p.Val405Ala Single submitter action myoclonus-renal failure syndrome
p.Val447Leu Single submitter progressive myoclonus epilepsy ⚠
p.Val60Leu Single submitter progressive myoclonus epilepsy ⚠
p.Val86Met Single submitter progressive myoclonus epilepsy ⚠
p.Asn317fs No assertion criteria
p.Gly253Arg No assertion criteria ⚠
p.Tyr89His No assertion criteria ⚠