OPLAH — 629 ClinVar variants
All ClinVar germline OPLAH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 302 flagged for review →
20 Pathogenic · 2 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 11 Conflicting · 40 Benign · 14 Benign/Likely benign · 196 Likely benign · 324 Uncertain significance
Full OPLAH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 302
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
OPLAH p.Arg645Cys
Conflicting
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Asn440Asp
Conflicting
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gly6Asp
Conflicting
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gly825Arg
Conflicting
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Ile349Ser
Conflicting
Single submitter
5-oxoprolinase deficiency
Predictors lean, ClinVar uncertain 208
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 208
-
OPLAH p.Ala344Thr
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ala422Val
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ala46Thr
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ala475Val
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg1214Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg144Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg359Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg400His
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg424His
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
- OPLAH p.Arg581Cys Uncertain significance Multiple submitters
-
OPLAH p.Arg845Gln
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg902Gln
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg969Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Asp633Asn
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Cys910Ser
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Glu556Gly
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Glu647Lys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Gly178Glu
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Gly292Ser
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
- OPLAH p.His812Tyr Uncertain significance Multiple submitters
-
OPLAH p.Ile761Val
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Lys885Arg
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Met617Thr
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Pro444Leu
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Pro480Ser
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Pro628Leu
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Pro837Leu
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ser281Arg
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ser288Leu
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ser364Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ser71Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Thr898Met
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Tyr240His
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ala1055Val
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ala1112Gly Uncertain significance Single submitter
-
OPLAH p.Ala1121Glu
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ala114Ser Uncertain significance Single submitter
-
OPLAH p.Ala1271Thr
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ala235Ser Uncertain significance Single submitter
- OPLAH p.Ala237Asp Uncertain significance Single submitter
- OPLAH p.Ala239Thr Uncertain significance Single submitter
-
OPLAH p.Ala244Thr
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ala335Asp Uncertain significance Single submitter
-
OPLAH p.Ala46Val
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ala500Thr Uncertain significance Single submitter
- OPLAH p.Ala540Val Uncertain significance Single submitter
- OPLAH p.Ala598Gly Uncertain significance Single submitter
- OPLAH p.Arg1028Leu Uncertain significance Single submitter
- OPLAH p.Arg105Gln Uncertain significance Single submitter
- OPLAH p.Arg1063Gly Uncertain significance Single submitter
-
OPLAH p.Arg1085Pro
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg1161Cys Uncertain significance Single submitter
-
OPLAH p.Arg1171Thr
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Arg1187Cys
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Arg139Cys
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Arg156Cys
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg156His Uncertain significance Single submitter
-
OPLAH p.Arg185Cys
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Arg185Leu
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg209Gln Uncertain significance Single submitter
- OPLAH p.Arg227His Uncertain significance Single submitter
- OPLAH p.Arg247His Uncertain significance Single submitter
- OPLAH p.Arg254Leu Uncertain significance Single submitter
-
OPLAH p.Arg324Cys
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg324Leu Uncertain significance Single submitter
- OPLAH p.Arg384Cys Uncertain significance Single submitter
- OPLAH p.Arg400Cys Uncertain significance Single submitter
-
OPLAH p.Arg470His
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg553Cys Uncertain significance Single submitter
-
OPLAH p.Arg553His
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Arg601His
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Arg627Gln
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Arg627Pro
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg627Trp Uncertain significance Single submitter
- OPLAH p.Arg641His Uncertain significance Single submitter
-
OPLAH p.Arg658Gln
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg758Cys Uncertain significance Single submitter
-
OPLAH p.Arg768Cys
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg7His Uncertain significance Single submitter
-
OPLAH p.Arg845Pro
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg845Trp Uncertain significance Single submitter
- OPLAH p.Arg853Gln Uncertain significance Single submitter
- OPLAH p.Arg95Gln Uncertain significance Single submitter
-
OPLAH p.Arg999Gly
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg999His Uncertain significance Single submitter
-
OPLAH p.Asn415Thr
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Asp159Val Uncertain significance Single submitter
- OPLAH p.Asp271Ala Uncertain significance Single submitter
-
OPLAH p.Asp560Glu
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Asp560Val Uncertain significance Single submitter
-
OPLAH p.Asp991Glu
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Asp992Ala
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Cys558Trp
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gln164Arg
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Gln203Arg Uncertain significance Single submitter
- OPLAH p.Gln474Pro Uncertain significance Single submitter
- OPLAH p.Gln664His Uncertain significance Single submitter
-
OPLAH p.Gln757Leu
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Glu1019Gln Uncertain significance Single submitter
- OPLAH p.Glu1072Gly Uncertain significance Single submitter
-
OPLAH p.Glu1118Gln
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Glu135Val Uncertain significance Single submitter
- OPLAH p.Glu221Asp Uncertain significance Single submitter
- OPLAH p.Glu668Ala Uncertain significance Single submitter
- OPLAH p.Glu724Lys Uncertain significance Single submitter
- OPLAH p.Gly1017Trp Uncertain significance Single submitter
-
OPLAH p.Gly1132Arg
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gly1249Arg
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gly155Ser
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Gly258Ser Uncertain significance Single submitter
- OPLAH p.Gly27Arg Uncertain significance Single submitter
- OPLAH p.Gly289Asp Uncertain significance Single submitter
-
OPLAH p.Gly28Arg
Uncertain significance
Single submitter
familial sleep-related hypermotor epilepsy
- OPLAH p.Gly293Arg Uncertain significance Single submitter
-
OPLAH p.Gly312Ser
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gly365Ala
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gly386Trp
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Gly399Asp Uncertain significance Single submitter
-
OPLAH p.Gly521Arg
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gly609Arg
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gly621Val
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Gly655Arg
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Gly727Ala Uncertain significance Single submitter
-
OPLAH p.Gly780Arg
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Gly80Ser Uncertain significance Single submitter
- OPLAH p.Gly826Cys Uncertain significance Single submitter
- OPLAH p.Gly945Ser Uncertain significance Single submitter
-
OPLAH p.His1275Tyr
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.His478Tyr Uncertain significance Single submitter
- OPLAH p.His743Arg Uncertain significance Single submitter
- OPLAH p.Ile1066Thr Uncertain significance Single submitter
-
OPLAH p.Ile12Thr
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ile228Val Uncertain significance Single submitter
- OPLAH p.Ile499Thr Uncertain significance Single submitter
- OPLAH p.Ile748Val Uncertain significance Single submitter
- OPLAH p.Ile755Met Uncertain significance Single submitter
- OPLAH p.Ile77Val Uncertain significance Single submitter
- OPLAH p.Ile789Val Uncertain significance Single submitter
- OPLAH p.Ile835Leu Uncertain significance Single submitter
- OPLAH p.Ile996Leu Uncertain significance Single submitter
- OPLAH p.Ile996Val Uncertain significance Single submitter
- OPLAH p.Leu161Met Uncertain significance Single submitter
- OPLAH p.Leu218Val Uncertain significance Single submitter
- OPLAH p.Leu241Phe Uncertain significance Single submitter
-
OPLAH p.Leu35Arg
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Leu360Phe Uncertain significance Single submitter
- OPLAH p.Leu450Pro Uncertain significance Single submitter
-
OPLAH p.Leu472Phe
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Leu538Val Uncertain significance Single submitter
- OPLAH p.Leu733Val Uncertain significance Single submitter
Predictors split 89
The independent predictors disagree with each other — read with care.
-
OPLAH p.Ala1093Val
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ala896Val
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg269Cys
Benign
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg459Cys
Benign
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg459His
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg53Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg53His
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg658Trp
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg744Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg754Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg758His
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg91Gln
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg924Cys
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Arg997Cys
Likely benign
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Asn462Ser
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Asp70Ala
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Phe1011Leu
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Pro447Leu
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Pro68Leu
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
-
OPLAH p.Ser449Arg
Uncertain significance
Multiple submitters
5-oxoprolinase deficiency
- OPLAH p.Thr242Met Uncertain significance Multiple submitters
- OPLAH p.Ala1026Thr Uncertain significance Single submitter
- OPLAH p.Ala1099Thr Uncertain significance Single submitter
- OPLAH p.Ala381Thr Uncertain significance Single submitter
- OPLAH p.Ala426Ser Uncertain significance Single submitter
-
OPLAH p.Ala611Val
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ala903Val Uncertain significance Single submitter
-
OPLAH p.Ala97Val
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg102Cys Uncertain significance Single submitter
- OPLAH p.Arg1085His Uncertain significance Single submitter
- OPLAH p.Arg1166Trp Uncertain significance Single submitter
-
OPLAH p.Arg1173His
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Arg1173Leu
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg209Trp Uncertain significance Single submitter
- OPLAH p.Arg31Trp Uncertain significance Single submitter
- OPLAH p.Arg324His Uncertain significance Single submitter
- OPLAH p.Arg467Gln Uncertain significance Single submitter
-
OPLAH p.Arg501Trp
Likely benign
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg627Leu Uncertain significance Single submitter
- OPLAH p.Arg637Gln Uncertain significance Single submitter
- OPLAH p.Arg65Gln Uncertain significance Single submitter
-
OPLAH p.Arg65Gly
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Arg78Cys Uncertain significance Single submitter
- OPLAH p.Arg978Pro Uncertain significance Single submitter
- OPLAH p.Asp696Glu Uncertain significance Single submitter
- OPLAH p.Asp779Asn Uncertain significance Single submitter
-
OPLAH p.Gln976Pro
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Glu221Gly Uncertain significance Single submitter
- OPLAH p.Glu421Lys Uncertain significance Single submitter
- OPLAH p.Glu668Val Uncertain significance Single submitter
- OPLAH p.Gly27Trp Uncertain significance Single submitter
- OPLAH p.Gly365Val Uncertain significance Single submitter
- OPLAH p.Gly504Ser Uncertain significance Single submitter
-
OPLAH p.Gly640Ser
Likely benign
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Gly808Glu Uncertain significance Single submitter
- OPLAH p.Gly890Ser Uncertain significance Single submitter
- OPLAH p.His331Tyr Uncertain significance Single submitter
- OPLAH p.His509Pro Uncertain significance Single submitter
-
OPLAH p.Ile1002Thr
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ile1036Phe Uncertain significance Single submitter
- OPLAH p.Ile701Thr Uncertain significance Single submitter
- OPLAH p.Ile719Met Uncertain significance Single submitter
- OPLAH p.Ile835Phe Uncertain significance Single submitter
-
OPLAH p.Leu287Phe
Uncertain significance
Single submitter
5-oxoprolinase deficiency
-
OPLAH p.Leu347Val
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Met225Ile Uncertain significance Single submitter
-
OPLAH p.Met455Val
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Phe252Leu Uncertain significance Single submitter
- OPLAH p.Phe329Leu Uncertain significance Single submitter
- OPLAH p.Pro1239Leu Uncertain significance Single submitter
-
OPLAH p.Pro534Ser
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Pro64Leu Uncertain significance Single submitter
- OPLAH p.Pro657Ser Uncertain significance Single submitter
-
OPLAH p.Pro908Ser
Benign
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ser1138Arg Uncertain significance Single submitter
-
OPLAH p.Ser220Leu
Conflicting
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Ser446Phe Uncertain significance Single submitter
- OPLAH p.Ser449Ile Uncertain significance Single submitter
- OPLAH p.Thr214Met Uncertain significance Single submitter
- OPLAH p.Thr507Met Uncertain significance Single submitter
- OPLAH p.Thr872Asn Uncertain significance Single submitter
- OPLAH p.Val229Ile Uncertain significance Single submitter
- OPLAH p.Val369Ile Uncertain significance Single submitter
- OPLAH p.Val430Met Uncertain significance Single submitter
- OPLAH p.Val591Leu Uncertain significance Single submitter
-
OPLAH p.Val847Met
Uncertain significance
Single submitter
5-oxoprolinase deficiency
- OPLAH p.Val948Met Uncertain significance Single submitter
-
OPLAH p.Ala1073Val
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
- OPLAH p.Arg1173Cys Uncertain significance No assertion criteria
All OPLAH variants
Pathogenic 20
- p.His870fs Multiple submitters 5-oxoprolinase deficiency
- c.587+1G>C Single submitter
- p.Arg1028fs Single submitter 5-oxoprolinase deficiency
- p.Arg1063Ter Single submitter 5-oxoprolinase deficiency
- p.Arg324_Tyr325insTer Single submitter 5-oxoprolinase deficiency
- p.Arg853Ter Single submitter 5-oxoprolinase deficiency
- p.Arg997fs Single submitter 5-oxoprolinase deficiency
- p.Cys692Ter Single submitter 5-oxoprolinase deficiency
- p.Gln1084Ter Single submitter 5-oxoprolinase deficiency
- p.Gln165Ter Single submitter 5-oxoprolinase deficiency
- p.Gln893Ter Single submitter 5-oxoprolinase deficiency
- p.Gly890fs Single submitter 5-oxoprolinase deficiency
- p.His788fs Single submitter 5-oxoprolinase deficiency
- p.Leu551fs Single submitter 5-oxoprolinase deficiency
- p.Ser1153fs Single submitter 5-oxoprolinase deficiency
- p.Ser1234Ter Single submitter 5-oxoprolinase deficiency
- p.Ser446fs Single submitter 5-oxoprolinase deficiency
- p.Thr85fs Single submitter 5-oxoprolinase deficiency
- p.Tyr1204Ter Single submitter 5-oxoprolinase deficiency
- p.Ser323Arg No assertion criteria 5-oxoprolinase deficiency
Pathogenic/Likely pathogenic 2
- c.587+1G>A Multiple submitters 5-oxoprolinase deficiency
- p.Gln1006Ter Multiple submitters 5-oxoprolinase deficiency
Likely pathogenic 22
- p.Tyr248Ter Multiple submitters 5-oxoprolinase deficiency
- c.1707-2A>G Single submitter 5-oxoprolinase deficiency
- c.2686+1G>T Single submitter 5-oxoprolinase deficiency
- c.3018+1G>T Single submitter 5-oxoprolinase deficiency
- c.3019-2A>G Single submitter 5-oxoprolinase deficiency
- c.3623-2A>C Single submitter 5-oxoprolinase deficiency
- p.Arg65fs Single submitter 5-oxoprolinase deficiency
- p.Arg768His Single submitter 5-oxoprolinase deficiency
- p.Asp1255fs Single submitter 5-oxoprolinase deficiency
- p.Gln1285Ter Single submitter 5-oxoprolinase deficiency
- p.Gln57Ter Single submitter 5-oxoprolinase deficiency
- p.Gly1132Trp Single submitter 5-oxoprolinase deficiency
- p.Leu968Ter Single submitter 5-oxoprolinase deficiency
- p.Ser298Ter Single submitter 5-oxoprolinase deficiency
- p.Thr1143fs Single submitter 5-oxoprolinase deficiency
- p.Thr712Ter Single submitter 5-oxoprolinase deficiency
- p.Val1057fs Single submitter 5-oxoprolinase deficiency
- p.Val1087fs Single submitter OPLAH-related disorder
- p.Val332fs Single submitter 5-oxoprolinase deficiency
- p.Gln950Ter No assertion criteria OPLAH-related disorder
- p.Gly1015fs No assertion criteria OPLAH-related disorder
- p.Pro1266fs No assertion criteria OPLAH-related disorder
Conflicting classifications of pathogenicity 11
- p.Arg105fs Single submitter 5-oxoprolinase deficiency
- p.Arg635Ter Single submitter 5-oxoprolinase deficiency
- p.Arg645Cys Single submitter 5-oxoprolinase deficiency ⚠
- p.Asn440Asp Single submitter 5-oxoprolinase deficiency ⚠
- p.Glu668= Single submitter 5-oxoprolinase deficiency
- p.Gly6Asp Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly825Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Ile349Ser Single submitter 5-oxoprolinase deficiency ⚠
- p.Pro657= Single submitter 5-oxoprolinase deficiency
- p.Ser220Leu Single submitter 5-oxoprolinase deficiency ⚠
- p.Val458Met Single submitter 5-oxoprolinase deficiency
Benign 40
- c.2512-7C>A Multiple submitters 5-oxoprolinase deficiency
- c.3462-9C>T Multiple submitters 5-oxoprolinase deficiency
- c.3721-11dup Multiple submitters 5-oxoprolinase deficiency
- c.3721-20del Multiple submitters 5-oxoprolinase deficiency
- c.3721-20G>C Multiple submitters 5-oxoprolinase deficiency
- p.Ala1009= Multiple submitters 5-oxoprolinase deficiency
- p.Ala1055= Multiple submitters 5-oxoprolinase deficiency
- p.Ala879Val Multiple submitters 5-oxoprolinase deficiency
- p.Arg269Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg31Gln Multiple submitters 5-oxoprolinase deficiency
- p.Arg459Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg501Gln Multiple submitters 5-oxoprolinase deficiency
- p.Arg658Leu Multiple submitters 5-oxoprolinase deficiency
- p.Asp526= Multiple submitters 5-oxoprolinase deficiency
- p.Gly148Ala Multiple submitters 5-oxoprolinase deficiency
- p.Gly584Cys Multiple submitters 5-oxoprolinase deficiency
- p.Ile717= Multiple submitters 5-oxoprolinase deficiency
- p.Ile74= Multiple submitters 5-oxoprolinase deficiency
- p.Phe612= Multiple submitters 5-oxoprolinase deficiency
- p.Pro4= Multiple submitters 5-oxoprolinase deficiency
- p.Ser284Arg Multiple submitters 5-oxoprolinase deficiency
- p.Tyr944= Multiple submitters 5-oxoprolinase deficiency
- p.Val340Ile Multiple submitters 5-oxoprolinase deficiency
- p.Val545Met Multiple submitters 5-oxoprolinase deficiency
- p.Val721= Multiple submitters 5-oxoprolinase deficiency
- c.1089-5C>T Single submitter 5-oxoprolinase deficiency
- c.2409+14del Single submitter 5-oxoprolinase deficiency
- c.3303+9G>T Single submitter 5-oxoprolinase deficiency
- c.3721-11del Single submitter 5-oxoprolinase deficiency
- p.Ala237= Single submitter 5-oxoprolinase deficiency
- p.Ala376= Single submitter 5-oxoprolinase deficiency
- p.Arg641Cys Single submitter 5-oxoprolinase deficiency
- p.Asn440= Single submitter 5-oxoprolinase deficiency
- p.Gly1170Ser Single submitter 5-oxoprolinase deficiency
- p.Gly683Val Single submitter 5-oxoprolinase deficiency
- p.His856= Single submitter 5-oxoprolinase deficiency
- p.Ile245Thr Single submitter 5-oxoprolinase deficiency
- p.Pro371= Single submitter 5-oxoprolinase deficiency
- p.Pro841= Single submitter 5-oxoprolinase deficiency
- p.Pro908Ser Single submitter 5-oxoprolinase deficiency ⚠
Benign/Likely benign 14
- c.1156+4A>G Multiple submitters 5-oxoprolinase deficiency
- c.1845-14C>T Multiple submitters 5-oxoprolinase deficiency
- c.2097-8C>T Multiple submitters 5-oxoprolinase deficiency
- c.3018+18T>C Multiple submitters 5-oxoprolinase deficiency
- c.3720+8C>T Multiple submitters 5-oxoprolinase deficiency
- c.3721-16C>G Multiple submitters 5-oxoprolinase deficiency
- c.949+12G>A Multiple submitters 5-oxoprolinase deficiency
- p.Asn350= Multiple submitters 5-oxoprolinase deficiency
- p.Asp988= Multiple submitters 5-oxoprolinase deficiency
- p.Glu1274Val Multiple submitters 5-oxoprolinase deficiency
- p.Leu1191= Multiple submitters 5-oxoprolinase deficiency
- p.Leu134= Multiple submitters 5-oxoprolinase deficiency
- p.Leu782= Multiple submitters 5-oxoprolinase deficiency
- p.Val1089Ile Multiple submitters 5-oxoprolinase deficiency
Likely benign 196
- c.171+6C>A Multiple submitters 5-oxoprolinase deficiency
- c.2096+8G>A Multiple submitters 5-oxoprolinase deficiency
- c.2512-6C>T Multiple submitters 5-oxoprolinase deficiency
- c.3721-20_3721-18del Multiple submitters 5-oxoprolinase deficiency
- c.463+15G>A Multiple submitters 5-oxoprolinase deficiency
- p.Ala960= Multiple submitters 5-oxoprolinase deficiency
- p.Arg997Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Asp238= Multiple submitters 5-oxoprolinase deficiency
- p.Asp479= Multiple submitters 5-oxoprolinase deficiency
- p.Gly1052= Multiple submitters 5-oxoprolinase deficiency
- p.Gly272= Multiple submitters 5-oxoprolinase deficiency
- p.Gly292= Multiple submitters 5-oxoprolinase deficiency
- p.Gly477= Multiple submitters 5-oxoprolinase deficiency
- p.Ile499= Multiple submitters 5-oxoprolinase deficiency
- p.Leu1219= Multiple submitters 5-oxoprolinase deficiency
- p.Leu191= Multiple submitters 5-oxoprolinase deficiency
- p.Pro1148= Multiple submitters
- p.Ser288= Multiple submitters 5-oxoprolinase deficiency
- p.Ser720= Multiple submitters 5-oxoprolinase deficiency
- p.Thr320= Multiple submitters 5-oxoprolinase deficiency
- p.Tyr1281= Multiple submitters 5-oxoprolinase deficiency
- c.1156+15C>T Single submitter 5-oxoprolinase deficiency
- c.1422+16C>T Single submitter 5-oxoprolinase deficiency
- c.1423-5C>T Single submitter 5-oxoprolinase deficiency
- c.1535+16G>A Single submitter 5-oxoprolinase deficiency
- c.1536-18T>C Single submitter 5-oxoprolinase deficiency
- c.1706+8C>T Single submitter 5-oxoprolinase deficiency
- c.171+12C>T Single submitter 5-oxoprolinase deficiency
- c.171+13G>A Single submitter 5-oxoprolinase deficiency
- c.172-13A>G Single submitter 5-oxoprolinase deficiency
- c.172-5C>T Single submitter 5-oxoprolinase deficiency
- c.1844+17C>G Single submitter 5-oxoprolinase deficiency
- c.1844+18T>G Single submitter 5-oxoprolinase deficiency
- c.1844+20C>T Single submitter 5-oxoprolinase deficiency
- c.1844+8G>C Single submitter 5-oxoprolinase deficiency
- c.1845-13G>A Single submitter 5-oxoprolinase deficiency
- c.1984-10C>T Single submitter 5-oxoprolinase deficiency
- c.1984-13G>A Single submitter 5-oxoprolinase deficiency
- c.1984-14C>A Single submitter 5-oxoprolinase deficiency
- c.2096+15G>A Single submitter 5-oxoprolinase deficiency
- c.2097-20C>G Single submitter 5-oxoprolinase deficiency
- c.2248+11G>A Single submitter 5-oxoprolinase deficiency
- c.2248+19G>T Single submitter 5-oxoprolinase deficiency
- c.2511+17G>A Single submitter 5-oxoprolinase deficiency
- c.2512-19G>A Single submitter 5-oxoprolinase deficiency
- c.2512-5G>A Single submitter 5-oxoprolinase deficiency
- c.2686+10_2686+15del Single submitter 5-oxoprolinase deficiency
- c.2871+13A>C Single submitter 5-oxoprolinase deficiency
- c.2872-4C>T Single submitter 5-oxoprolinase deficiency
- c.3019-11G>A Single submitter 5-oxoprolinase deficiency
- c.3019-14C>T Single submitter 5-oxoprolinase deficiency
- c.3019-5C>T Single submitter 5-oxoprolinase deficiency
- c.3153+8G>A Single submitter 5-oxoprolinase deficiency
- c.3154-12C>T Single submitter 5-oxoprolinase deficiency
- c.3154-20G>T Single submitter 5-oxoprolinase deficiency
- c.3303+11G>T Single submitter 5-oxoprolinase deficiency
- c.3304-10C>T Single submitter 5-oxoprolinase deficiency
- c.3304-11G>A Single submitter 5-oxoprolinase deficiency
- c.3461+15C>T Single submitter 5-oxoprolinase deficiency
- c.3461+17G>A Single submitter 5-oxoprolinase deficiency
- c.3462-4G>A Single submitter 5-oxoprolinase deficiency
- c.3622+16G>A Single submitter 5-oxoprolinase deficiency
- c.3622+17C>T Single submitter 5-oxoprolinase deficiency
- c.3622+7G>C Single submitter 5-oxoprolinase deficiency
- c.3623-13C>G Single submitter 5-oxoprolinase deficiency
- c.364-8G>A Single submitter 5-oxoprolinase deficiency
- c.364-9C>T Single submitter 5-oxoprolinase deficiency
- c.3721-12_3721-11dup Single submitter
- c.3721-12_3721-11insCT Single submitter 5-oxoprolinase deficiency
- c.3721-12C>G Single submitter 5-oxoprolinase deficiency
- c.3721-13C>T Single submitter 5-oxoprolinase deficiency
- c.3721-14_3721-13insCA Single submitter 5-oxoprolinase deficiency
- c.3721-15_3721-6del Single submitter 5-oxoprolinase deficiency
- c.3721-15C>A Single submitter 5-oxoprolinase deficiency
- c.3721-15C>T Single submitter 5-oxoprolinase deficiency
- c.3721-20_3721-17del Single submitter
- c.3721-20_3721-19del Single submitter 5-oxoprolinase deficiency
- c.3721-8G>C Single submitter
- c.463+14C>T Single submitter 5-oxoprolinase deficiency
- c.587+10G>A Single submitter 5-oxoprolinase deficiency
- c.587+12G>T Single submitter 5-oxoprolinase deficiency
- c.783+14G>C Single submitter 5-oxoprolinase deficiency
- c.784-20C>T Single submitter 5-oxoprolinase deficiency
- c.784-9C>T Single submitter 5-oxoprolinase deficiency
- c.949+11C>T Single submitter 5-oxoprolinase deficiency
- c.950-17C>T Single submitter 5-oxoprolinase deficiency
- p.Ala1124= Single submitter 5-oxoprolinase deficiency
- p.Ala1126= Single submitter 5-oxoprolinase deficiency
- p.Ala1287= Single submitter
- p.Ala426= Single submitter 5-oxoprolinase deficiency
- p.Ala564= Single submitter 5-oxoprolinase deficiency
- p.Arg185= Single submitter 5-oxoprolinase deficiency
- p.Arg459= Single submitter 5-oxoprolinase deficiency
- p.Arg501Trp Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg52Cys Single submitter 5-oxoprolinase deficiency
- p.Arg615Trp Single submitter 5-oxoprolinase deficiency
- p.Arg744= Single submitter 5-oxoprolinase deficiency
- p.Asn462= Single submitter 5-oxoprolinase deficiency
- p.Asp632= Single submitter 5-oxoprolinase deficiency
- p.Asp70= Single submitter 5-oxoprolinase deficiency
- p.Asp947= Single submitter 5-oxoprolinase deficiency
- p.Gln583Arg Single submitter
- p.Gln931Arg Single submitter 5-oxoprolinase deficiency
- p.Glu1152= Single submitter 5-oxoprolinase deficiency
- p.Glu1274= Single submitter 5-oxoprolinase deficiency
- p.Glu1274Lys Single submitter 5-oxoprolinase deficiency
- p.Glu330Lys Single submitter 5-oxoprolinase deficiency
- p.Glu49= Single submitter 5-oxoprolinase deficiency
- p.Glu49Lys Single submitter 5-oxoprolinase deficiency
- p.Glu681= Single submitter 5-oxoprolinase deficiency
- p.Gly1172= Single submitter 5-oxoprolinase deficiency
- p.Gly1251= Single submitter 5-oxoprolinase deficiency
- p.Gly15= Single submitter 5-oxoprolinase deficiency
- p.Gly379= Single submitter 5-oxoprolinase deficiency
- p.Gly640Ser Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly669= Single submitter 5-oxoprolinase deficiency
- p.Gly730= Single submitter 5-oxoprolinase deficiency
- p.Gly780= Single submitter 5-oxoprolinase deficiency
- p.Gly814= Single submitter 5-oxoprolinase deficiency
- p.Gly889Arg Single submitter 5-oxoprolinase deficiency
- p.Gly993= Single submitter
- p.His511= Single submitter 5-oxoprolinase deficiency
- p.His513= Single submitter 5-oxoprolinase deficiency
- p.His73Arg Single submitter
- p.His870Asp Single submitter 5-oxoprolinase deficiency
- p.Ile12= Single submitter 5-oxoprolinase deficiency
- p.Ile228= Single submitter 5-oxoprolinase deficiency
- p.Ile789= Single submitter 5-oxoprolinase deficiency
- p.Leu1039= Single submitter 5-oxoprolinase deficiency
- p.Leu1109= Single submitter 5-oxoprolinase deficiency
- p.Leu1270= Single submitter 5-oxoprolinase deficiency
- p.Leu180= Single submitter 5-oxoprolinase deficiency
- p.Leu218= Single submitter 5-oxoprolinase deficiency
- p.Leu287= Single submitter 5-oxoprolinase deficiency
- p.Leu485= Single submitter 5-oxoprolinase deficiency
- p.Leu503= Single submitter 5-oxoprolinase deficiency
- p.Leu516= Single submitter 5-oxoprolinase deficiency
- p.Leu63= Single submitter 5-oxoprolinase deficiency
- p.Leu646= Single submitter
- p.Leu818= Single submitter 5-oxoprolinase deficiency
- p.Leu901= Single submitter 5-oxoprolinase deficiency
- p.Leu98= Single submitter 5-oxoprolinase deficiency
- p.Phe1186= Single submitter 5-oxoprolinase deficiency
- p.Phe457= Single submitter 5-oxoprolinase deficiency
- p.Phe544= Single submitter 5-oxoprolinase deficiency
- p.Phe608= Single submitter 5-oxoprolinase deficiency
- p.Pro1062= Single submitter 5-oxoprolinase deficiency
- p.Pro1203= Single submitter 5-oxoprolinase deficiency
- p.Pro1239= Single submitter 5-oxoprolinase deficiency
- p.Pro126= Single submitter 5-oxoprolinase deficiency
- p.Pro224= Single submitter 5-oxoprolinase deficiency
- p.Pro243= Single submitter 5-oxoprolinase deficiency
- p.Pro290= Single submitter 5-oxoprolinase deficiency
- p.Pro345= Single submitter 5-oxoprolinase deficiency
- p.Pro380= Single submitter 5-oxoprolinase deficiency
- p.Pro628= Single submitter 5-oxoprolinase deficiency
- p.Pro64= Single submitter 5-oxoprolinase deficiency
- p.Pro68= Single submitter 5-oxoprolinase deficiency
- p.Pro778= Single submitter 5-oxoprolinase deficiency
- p.Ser1083= Single submitter 5-oxoprolinase deficiency
- p.Ser1129= Single submitter 5-oxoprolinase deficiency
- p.Ser1193= Single submitter
- p.Ser1277= Single submitter 5-oxoprolinase deficiency
- p.Ser270= Single submitter 5-oxoprolinase deficiency
- p.Ser281= Single submitter 5-oxoprolinase deficiency
- p.Ser336= Single submitter 5-oxoprolinase deficiency
- p.Ser642Cys Single submitter 5-oxoprolinase deficiency
- p.Ser911= Single submitter 5-oxoprolinase deficiency
- p.Thr1108= Single submitter 5-oxoprolinase deficiency
- p.Thr1146= Single submitter 5-oxoprolinase deficiency
- p.Thr1181Ile Single submitter
- p.Thr149= Single submitter 5-oxoprolinase deficiency
- p.Thr151= Single submitter 5-oxoprolinase deficiency
- p.Thr157= Single submitter 5-oxoprolinase deficiency
- p.Thr234= Single submitter 5-oxoprolinase deficiency
- p.Thr279Ala Single submitter
- p.Thr301Ser Single submitter 5-oxoprolinase deficiency
- p.Thr507= Single submitter 5-oxoprolinase deficiency
- p.Thr654= Single submitter 5-oxoprolinase deficiency
- p.Thr844= Single submitter 5-oxoprolinase deficiency
- p.Tyr248= Single submitter 5-oxoprolinase deficiency
- p.Tyr383= Single submitter 5-oxoprolinase deficiency
- p.Val1059= Single submitter 5-oxoprolinase deficiency
- p.Val1087= Single submitter 5-oxoprolinase deficiency
- p.Val140= Single submitter 5-oxoprolinase deficiency
- p.Val167= Single submitter 5-oxoprolinase deficiency
- p.Val189= Single submitter 5-oxoprolinase deficiency
- p.Val21= Single submitter
- p.Val434Ile Single submitter 5-oxoprolinase deficiency
- p.Val528= Single submitter 5-oxoprolinase deficiency
- p.Val630= Single submitter 5-oxoprolinase deficiency
- p.Val838= Single submitter 5-oxoprolinase deficiency
- p.Val984= Single submitter 5-oxoprolinase deficiency
- c.1535+10G>A No assertion criteria OPLAH-related disorder
- p.Ala1073Val No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
- p.Pro1069= No assertion criteria OPLAH-related disorder
Uncertain significance 324
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1093Val Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ala344Thr Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ala422Val Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ala46Thr Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ala475Val Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ala896Val Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg1214Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg144Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg359Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg400His Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg424His Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg459His Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg53Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg53His Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg581Cys Multiple submitters ⚠
- p.Arg637Trp Multiple submitters 5-oxoprolinase deficiency
- p.Arg658Trp Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg744Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg754Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg758His Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg845Gln Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg902Gln Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg91Gln Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg91Trp Multiple submitters 5-oxoprolinase deficiency
- p.Arg924Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Arg969Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Asn462Ser Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Asp633Asn Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Asp70Ala Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Cys910Ser Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Glu372Lys Multiple submitters 5-oxoprolinase deficiency
- p.Glu556Gly Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Glu647Lys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Gly178Glu Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Gly292Ser Multiple submitters 5-oxoprolinase deficiency ⚠
- p.His812Tyr Multiple submitters ⚠
- p.Ile761Val Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Lys885Arg Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Met617Thr Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Phe1011Leu Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Pro444Leu Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Pro447Leu Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Pro480Ser Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Pro628Leu Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Pro68Leu Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Pro837Leu Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ser281Arg Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ser288Leu Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ser364Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ser449Arg Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Ser71Cys Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Thr242Met Multiple submitters ⚠
- p.Thr585Met Multiple submitters 5-oxoprolinase deficiency
- p.Thr898Met Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Tyr240His Multiple submitters 5-oxoprolinase deficiency ⚠
- p.Val216Met Multiple submitters 5-oxoprolinase deficiency
- c.1156+1G>A Single submitter
- c.1535+3G>T Single submitter 5-oxoprolinase deficiency
- c.1690_1706+6dup Single submitter 5-oxoprolinase deficiency
- c.1845-20G>A Single submitter 5-oxoprolinase deficiency
- c.363+3G>A Single submitter 5-oxoprolinase deficiency
- c.-53-2A>G Single submitter
- p.Ala1026Thr Single submitter ⚠
- p.Ala1055Val Single submitter 5-oxoprolinase deficiency ⚠
- p.Ala1099Thr Single submitter ⚠
- p.Ala1112Gly Single submitter ⚠
- p.Ala1121Glu Single submitter 5-oxoprolinase deficiency ⚠
- p.Ala114Ser Single submitter ⚠
- p.Ala1271Thr Single submitter 5-oxoprolinase deficiency ⚠
- p.Ala235Ser Single submitter ⚠
- p.Ala237Asp Single submitter ⚠
- p.Ala239Thr Single submitter ⚠
- p.Ala244Thr Single submitter 5-oxoprolinase deficiency ⚠
- p.Ala335Asp Single submitter ⚠
- p.Ala338Thr Single submitter
- p.Ala381Thr Single submitter ⚠
- p.Ala426Ser Single submitter ⚠
- p.Ala46Val Single submitter 5-oxoprolinase deficiency ⚠
- p.Ala500Thr Single submitter ⚠
- p.Ala540Val Single submitter ⚠
- p.Ala598Gly Single submitter ⚠
- p.Ala611Val Single submitter 5-oxoprolinase deficiency ⚠
- p.Ala903Val Single submitter ⚠
- p.Ala97Val Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg1028Leu Single submitter ⚠
- p.Arg102Cys Single submitter ⚠
- p.Arg105Gln Single submitter ⚠
- p.Arg1063Gly Single submitter ⚠
- p.Arg1085His Single submitter ⚠
- p.Arg1085Pro Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg1161Cys Single submitter ⚠
- p.Arg1166Trp Single submitter ⚠
- p.Arg1171Thr Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg1173His Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg1173Leu Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg1187Cys Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg139Cys Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg156Cys Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg156His Single submitter ⚠
- p.Arg185Cys Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg185Leu Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg209Gln Single submitter ⚠
- p.Arg209Trp Single submitter ⚠
- p.Arg227Cys Single submitter
- p.Arg227His Single submitter ⚠
- p.Arg247His Single submitter ⚠
- p.Arg254Leu Single submitter ⚠
- p.Arg31Trp Single submitter ⚠
- p.Arg324Cys Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg324His Single submitter ⚠
- p.Arg324Leu Single submitter ⚠
- p.Arg384Cys Single submitter ⚠
- p.Arg400Cys Single submitter ⚠
- p.Arg467Gln Single submitter ⚠
- p.Arg470His Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg52His Single submitter
- p.Arg553Cys Single submitter ⚠
- p.Arg553His Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg601His Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg627Gln Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg627Leu Single submitter ⚠
- p.Arg627Pro Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg627Trp Single submitter ⚠
- p.Arg637Gln Single submitter ⚠
- p.Arg641His Single submitter ⚠
- p.Arg658Gln Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg65Gln Single submitter ⚠
- p.Arg65Gly Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg744His Single submitter 5-oxoprolinase deficiency
- p.Arg758Cys Single submitter ⚠
- p.Arg768Cys Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg78Cys Single submitter ⚠
- p.Arg78His Single submitter 5-oxoprolinase deficiency
- p.Arg7His Single submitter ⚠
- p.Arg845Pro Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg845Trp Single submitter ⚠
- p.Arg853Gln Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Arg965Gly Single submitter 5-oxoprolinase deficiency
- p.Arg965Ter Single submitter
- p.Arg978Pro Single submitter ⚠
- p.Arg999Gly Single submitter 5-oxoprolinase deficiency ⚠
- p.Arg999His Single submitter ⚠
- p.Asn415Thr Single submitter 5-oxoprolinase deficiency ⚠
- p.Asn42Lys Single submitter
- p.Asp1012= Single submitter 5-oxoprolinase deficiency
- p.Asp159Val Single submitter ⚠
- p.Asp271Ala Single submitter ⚠
- p.Asp271Asn Single submitter 5-oxoprolinase deficiency
- p.Asp45= Single submitter 5-oxoprolinase deficiency
- p.Asp560Glu Single submitter 5-oxoprolinase deficiency ⚠
- p.Asp560Val Single submitter ⚠
- p.Asp696Glu Single submitter ⚠
- p.Asp779Asn Single submitter ⚠
- p.Asp991Glu Single submitter 5-oxoprolinase deficiency ⚠
- p.Asp992Ala Single submitter 5-oxoprolinase deficiency ⚠
- p.Cys558Trp Single submitter 5-oxoprolinase deficiency ⚠
- p.Gln164Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Gln203Arg Single submitter ⚠
- p.Gln474Pro Single submitter ⚠
- p.Gln664His Single submitter ⚠
- p.Gln757Leu Single submitter 5-oxoprolinase deficiency ⚠
- p.Gln976Pro Single submitter 5-oxoprolinase deficiency ⚠
- p.Glu1019Gln Single submitter ⚠
- p.Glu1072Gly Single submitter ⚠
- p.Glu1118Gln Single submitter 5-oxoprolinase deficiency ⚠
- p.Glu135Val Single submitter ⚠
- p.Glu221Asp Single submitter ⚠
- p.Glu221Gly Single submitter ⚠
- p.Glu421Lys Single submitter ⚠
- p.Glu668Ala Single submitter ⚠
- p.Glu668Val Single submitter ⚠
- p.Glu724Lys Single submitter ⚠
- p.Glu894Lys Single submitter
- p.Gly1017Trp Single submitter ⚠
- p.Gly1132Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly1249Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly155Ser Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly258Ser Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.Gly27Trp Single submitter ⚠
- p.Gly289Asp Single submitter ⚠
- p.Gly28Arg Single submitter familial sleep-related hypermotor epilepsy ⚠
- p.Gly293Arg Single submitter ⚠
- p.Gly312Ser Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly365Ala Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly365Val Single submitter ⚠
- p.Gly386Trp Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly399Asp Single submitter ⚠
- p.Gly504Ser Single submitter ⚠
- p.Gly521Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly609Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly621Val Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly655Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly727Ala Single submitter ⚠
- p.Gly780Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Gly808Glu Single submitter ⚠
- p.Gly80Ser Single submitter ⚠
- p.Gly826Cys Single submitter ⚠
- p.Gly890Ala Single submitter 5-oxoprolinase deficiency
- p.Gly890Ser Single submitter ⚠
- p.Gly945Ser Single submitter ⚠
- p.His1275Tyr Single submitter 5-oxoprolinase deficiency ⚠
- p.His331Tyr Single submitter ⚠
- p.His478Tyr Single submitter ⚠
- p.His509= Single submitter 5-oxoprolinase deficiency
- p.His509Pro Single submitter ⚠
- p.His743Arg Single submitter ⚠
- p.Ile1002Thr Single submitter 5-oxoprolinase deficiency ⚠
- p.Ile1036Phe Single submitter ⚠
- p.Ile1066Thr Single submitter ⚠
- p.Ile12Thr Single submitter 5-oxoprolinase deficiency ⚠
- p.Ile228Val Single submitter ⚠
- p.Ile499Thr Single submitter ⚠
- p.Ile701Thr Single submitter ⚠
- p.Ile719Met Single submitter ⚠
- p.Ile748Val Single submitter ⚠
- p.Ile755Met Single submitter ⚠
- p.Ile77Val Single submitter ⚠
- p.Ile789Val Single submitter ⚠
- p.Ile835Leu Single submitter ⚠
- p.Ile835Phe Single submitter ⚠
- p.Ile996Leu Single submitter ⚠
- p.Ile996Val Single submitter ⚠
- p.Leu161Met Single submitter ⚠
- p.Leu218Val Single submitter ⚠
- p.Leu241Phe Single submitter ⚠
- p.Leu287Phe Single submitter 5-oxoprolinase deficiency ⚠
- p.Leu347Val Single submitter 5-oxoprolinase deficiency ⚠
- p.Leu35Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Leu360Phe Single submitter ⚠
- p.Leu450Pro Single submitter ⚠
- p.Leu472Phe Single submitter 5-oxoprolinase deficiency ⚠
- p.Leu538Val Single submitter ⚠
- p.Leu551Arg Single submitter 5-oxoprolinase deficiency
- p.Leu733Val Single submitter ⚠
- p.Leu782Met Single submitter 5-oxoprolinase deficiency ⚠
- p.Lys175Asn Single submitter ⚠
- p.Met1104Thr Single submitter 5-oxoprolinase deficiency ⚠
- p.Met225Ile Single submitter ⚠
- p.Met268Leu Single submitter 5-oxoprolinase deficiency ⚠
- p.Met277Val Single submitter ⚠
- p.Met455Val Single submitter 5-oxoprolinase deficiency ⚠
- p.Met465Val Single submitter ⚠
- p.Met505Val Single submitter 5-oxoprolinase deficiency ⚠
- p.Met746Ile Single submitter 5-oxoprolinase deficiency ⚠
- p.Met79Leu Single submitter 5-oxoprolinase deficiency
- p.Met953Ile Single submitter ⚠
- p.Phe252Leu Single submitter ⚠
- p.Phe329Leu Single submitter ⚠
- p.Phe488Ser Single submitter ⚠
- p.Phe577= Single submitter 5-oxoprolinase deficiency
- p.Pro1062Leu Single submitter ⚠
- p.Pro1069Arg Single submitter ⚠
- p.Pro1239Leu Single submitter ⚠
- p.Pro124Ser Single submitter 5-oxoprolinase deficiency ⚠
- p.Pro1263Ser Single submitter ⚠
- p.Pro243Thr Single submitter
- p.Pro290Leu Single submitter 5-oxoprolinase deficiency ⚠
- p.Pro380Ser Single submitter ⚠
- p.Pro407Ala Single submitter ⚠
- p.Pro407Ser Single submitter ⚠
- p.Pro420Ser Single submitter 5-oxoprolinase deficiency ⚠
- p.Pro444Arg Single submitter 5-oxoprolinase deficiency ⚠
- p.Pro4Leu Single submitter 5-oxoprolinase deficiency ⚠
- p.Pro534Ser Single submitter 5-oxoprolinase deficiency ⚠
- p.Pro597Ser Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Pro657Ala Single submitter ⚠
- p.Pro657Ser Single submitter ⚠
- p.Pro822Ser Single submitter ⚠
- p.Pro864Ser Single submitter ⚠
- p.Ser1033Ala Single submitter ⚠
- p.Ser1134Gly Single submitter ⚠
- p.Ser1138Arg Single submitter ⚠
- p.Ser1153Cys Single submitter ⚠
- p.Ser336Asn Single submitter ⚠
- p.Ser373Leu Single submitter 5-oxoprolinase deficiency ⚠
- p.Ser446Phe Single submitter ⚠
- p.Ser449Ile Single submitter ⚠
- p.Ser602= Single submitter 5-oxoprolinase deficiency
- p.Ser602Trp Single submitter ⚠
- p.Ser866Phe Single submitter ⚠
- p.Ser921Leu Single submitter
- p.Ser986Leu Single submitter 5-oxoprolinase deficiency ⚠
- p.Ser994Phe Single submitter 5-oxoprolinase deficiency ⚠
- p.Thr101Ile Single submitter ⚠
- p.Thr1108Ile Single submitter ⚠
- p.Thr1119Met Single submitter ⚠
- p.Thr1233Ala Single submitter ⚠
- p.Thr214Met Single submitter ⚠
- p.Thr234Met Single submitter ⚠
- p.Thr392Met Single submitter ⚠
- p.Thr473Met Single submitter 5-oxoprolinase deficiency ⚠
- p.Thr507Met Single submitter ⚠
- p.Thr863Ile Single submitter 5-oxoprolinase deficiency
- p.Thr872Asn Single submitter ⚠
- p.Thr913Ile Single submitter ⚠
- p.Tyr1204Cys Single submitter ⚠
- p.Tyr130His Single submitter