PRODH — 467 ClinVar variants
All ClinVar germline PRODH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
10 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 23 Conflicting · 66 Benign · 23 Benign/Likely benign · 144 Likely benign · 192 Uncertain significance
Full PRODH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll PRODH variants
Pathogenic 10
- p.Tyr412Ter Multiple submitters Inborn genetic diseases
- p.Cys13fs Single submitter hyperprolinemia type 1
- p.Gln127Ter Single submitter hyperprolinemia type 1
- p.Leu108fs Single submitter hyperprolinemia type 1
- p.Leu79Ter Single submitter hyperprolinemia type 1
- p.Lys176fs Single submitter hyperprolinemia type 1
- p.Ser323fs Single submitter hyperprolinemia type 1
- p.Tyr181Ter Single submitter hyperprolinemia type 1
- p.Val365fs Single submitter hyperprolinemia type 1
- p.Arg521Gly No assertion criteria hyperprolinemia type 1
Pathogenic/Likely pathogenic 2
- p.Gln59Ter Multiple submitters hyperprolinemia type 1
- p.Glu153fs Multiple submitters PRODH-related disorders
Likely pathogenic 7
- c.1104+2T>C Multiple submitters schizophrenia 4
- c.1251+2C>T Single submitter hyperprolinemia type 1
- c.1252-1G>A Single submitter hyperprolinemia type 1
- p.Leu393fs Single submitter hyperprolinemia type 1
- p.Met1Arg Single submitter hyperprolinemia type 1
- p.Met1Leu Single submitter hyperprolinemia type 1
- p.Val50fs Single submitter hyperprolinemia type 1
Conflicting classifications of pathogenicity 23
- c.1105-14C>A Single submitter hyperprolinemia type 1
- c.1251+6C>T Single submitter hyperprolinemia type 1
- c.850-10A>G Single submitter hyperprolinemia type 1
- c.930-14G>A Single submitter hyperprolinemia type 1
- c.930-1G>C Single submitter hyperprolinemia type 1
- p.Ala206fs Single submitter hyperprolinemia type 1
- p.Ala455Ser Single submitter Inborn genetic diseases
- p.Arg103Ser Single submitter Inborn genetic diseases
- p.Arg217His Single submitter hyperprolinemia type 1
- p.Arg376Gln Single submitter hyperprolinemia type 1
- p.Arg431His Single submitter hyperprolinemia type 1
- p.Arg453Cys Single submitter hyperprolinemia type 1
- p.Arg577Trp Single submitter Inborn genetic diseases
- p.Cys218= Single submitter hyperprolinemia type 1
- p.Gln260= Single submitter hyperprolinemia type 1
- p.Gln526Ter Single submitter hyperprolinemia type 1
- p.Glu153Lys Single submitter Inborn genetic diseases
- p.Leu245= Single submitter hyperprolinemia type 1
- p.Leu289Met Single submitter schizophrenia 4
- p.Leu441Pro Single submitter PRODH-related disorders
- p.Pro406Leu Single submitter schizophrenia 4
- p.Thr466Met Single submitter hyperprolinemia type 1
- p.Tyr551Ser Single submitter hyperprolinemia type 1
Benign 66
- c.1011+129A>G Multiple submitters
- c.1011+171G>A Multiple submitters
- c.1011+214G>A Multiple submitters
- c.1012-94C>A Multiple submitters
- c.1428-105A>C Multiple submitters
- c.1428-142C>T Multiple submitters
- c.1526+259C>T Multiple submitters
- c.1526+263T>G Multiple submitters
- c.1527-251C>T Multiple submitters
- c.1527-51T>C Multiple submitters
- c.273+4C>T Multiple submitters hyperprolinemia type 1
- c.273+85C>T Multiple submitters
- c.274-114A>G Multiple submitters
- c.274-49A>G Multiple submitters
- c.482+73A>G Multiple submitters
- c.483-42G>C Multiple submitters
- c.483-77C>T Multiple submitters
- c.517+150C>T Multiple submitters
- c.518-66A>G Multiple submitters
- c.667+135T>C Multiple submitters
- c.668-152T>C Multiple submitters
- c.668-64G>C Multiple submitters
- c.732+83G>A Multiple submitters
- c.733-33G>A Multiple submitters
- c.849+23C>T Multiple submitters hyperprolinemia type 1
- c.849+29T>C Multiple submitters
- c.849+45del Multiple submitters hyperprolinemia type 1
- c.849+60T>G Multiple submitters
- c.849+73G>A Multiple submitters
- c.930-215A>C Multiple submitters
- c.*19T>C Multiple submitters hyperprolinemia type 1
- p.Ala541= Multiple submitters hyperprolinemia type 1
- p.Arg521Gln Multiple submitters hyperprolinemia type 1
- p.Arg72= Multiple submitters hyperprolinemia type 1
- p.Gly458= Multiple submitters hyperprolinemia type 1
- p.Leu331= Multiple submitters hyperprolinemia type 1
- p.Leu581= Multiple submitters hyperprolinemia type 1
- p.Phe505= Multiple submitters hyperprolinemia type 1
- p.Trp185Arg Multiple submitters hyperprolinemia type 1
- p.Tyr480= Multiple submitters hyperprolinemia type 1
- c.1251+125T>C Single submitter
- c.1251+159G>A Single submitter
- c.1251+234C>T Single submitter
- c.1251+259T>C Single submitter
- c.1251+309A>G Single submitter
- c.1427+205C>T Single submitter
- c.1427+223C>G Single submitter
- c.1427+230T>C Single submitter
- c.1427+273C>T Single submitter
- c.1427+306G>A Single submitter
- c.1428-248C>T Single submitter
- c.1428-249A>C Single submitter
- c.1527-294AG[2] Single submitter
- c.273+145G>A Single submitter
- c.273+155A>C Single submitter
- c.273+188A>G Single submitter
- c.274-226C>G Single submitter
- c.482+236G>A Single submitter
- c.482+285C>T Single submitter
- c.518-135T>C Single submitter
- c.518-139G>A Single submitter
- c.930-220_930-219insT Single submitter
- p.Arg521= Single submitter hyperprolinemia type 1
- p.Gln355= Single submitter hyperprolinemia type 1
- p.Trp185= Single submitter hyperprolinemia type 1
- p.Trp185Gln Single submitter hyperprolinemia type 1
Benign/Likely benign 23
- c.1104+16C>T Multiple submitters schizophrenia 4
- c.1105-14C>T Multiple submitters hyperprolinemia type 1
- c.1252-14C>T Multiple submitters hyperprolinemia type 1
- c.517+19C>T Multiple submitters schizophrenia 4
- c.733-5del Multiple submitters hyperprolinemia type 1
- c.930-15C>T Multiple submitters schizophrenia 4
- p.Ala454= Multiple submitters hyperprolinemia type 1
- p.Ala472Thr Multiple submitters hyperprolinemia type 1
- p.Ala58Thr Multiple submitters Inborn genetic diseases
- p.Arg5His Multiple submitters hyperprolinemia type 1
- p.Asn422Ser Multiple submitters hyperprolinemia type 1
- p.Asp274= Multiple submitters schizophrenia 4
- p.Asp426= Multiple submitters hyperprolinemia type 1
- p.His520= Multiple submitters hyperprolinemia type 1
- p.Ile390= Multiple submitters schizophrenia 4
- p.Pro19Gln Multiple submitters hyperprolinemia type 1
- p.Pro30Ser Multiple submitters Inborn genetic diseases
- p.Pro8Leu Multiple submitters hyperprolinemia type 1
- p.Thr275Asn Multiple submitters Inborn genetic diseases
- p.Thr466= Multiple submitters hyperprolinemia type 1
- p.Trp185Ter Multiple submitters Inborn genetic diseases
- p.Tyr467= Multiple submitters hyperprolinemia type 1
- p.Val427Met Multiple submitters hyperprolinemia type 1
Likely benign 144
- c.1012-16C>T Multiple submitters hyperprolinemia type 1
- c.1104+13G>A Multiple submitters hyperprolinemia type 1
- c.1105-10C>T Multiple submitters hyperprolinemia type 1
- c.1251+10C>T Multiple submitters hyperprolinemia type 1
- c.1427+20C>G Multiple submitters hyperprolinemia type 1
- c.1427+8G>T Multiple submitters hyperprolinemia type 1
- c.1526+15C>T Multiple submitters hyperprolinemia type 1
- c.1527-11C>T Multiple submitters hyperprolinemia type 1
- c.273+16G>C Multiple submitters hyperprolinemia type 1
- c.482+13C>T Multiple submitters hyperprolinemia type 1
- c.483-10C>T Multiple submitters hyperprolinemia type 1
- c.518-11C>T Multiple submitters hyperprolinemia type 1
- c.518-19C>T Multiple submitters hyperprolinemia type 1
- p.Ala119= Multiple submitters hyperprolinemia type 1
- p.Ala381= Multiple submitters hyperprolinemia type 1
- p.Ala489Thr Multiple submitters hyperprolinemia type 1
- p.Ala58= Multiple submitters schizophrenia 4
- p.Asn335= Multiple submitters hyperprolinemia type 1
- p.Asn488Ser Multiple submitters hyperprolinemia type 1
- p.Asp170Glu Multiple submitters hyperprolinemia type 1
- p.Asp228= Multiple submitters hyperprolinemia type 1
- p.Gln29= Multiple submitters schizophrenia 4
- p.Glu90= Multiple submitters hyperprolinemia type 1
- p.Gly539= Multiple submitters hyperprolinemia type 1
- p.Ile14= Multiple submitters hyperprolinemia type 1
- p.Ile291= Multiple submitters schizophrenia 4
- p.Leu244= Multiple submitters hyperprolinemia type 1
- p.Leu354= Multiple submitters hyperprolinemia type 1
- p.Leu7= Multiple submitters hyperprolinemia type 1
- p.Leu74= Multiple submitters hyperprolinemia type 1
- p.Phe187= Multiple submitters hyperprolinemia type 1
- p.Pro30= Multiple submitters hyperprolinemia type 1
- p.Pro388= Multiple submitters hyperprolinemia type 1
- p.Pro544= Multiple submitters hyperprolinemia type 1
- p.Ser139= Multiple submitters hyperprolinemia type 1
- p.Ser162= Multiple submitters hyperprolinemia type 1
- p.Ser391= Multiple submitters hyperprolinemia type 1
- p.Thr311= Multiple submitters hyperprolinemia type 1
- p.Tyr202= Multiple submitters schizophrenia 4
- p.Val18= Multiple submitters hyperprolinemia type 1
- c.1011+11C>T Single submitter hyperprolinemia type 1
- c.1011+12G>A Single submitter hyperprolinemia type 1
- c.1011+16C>T Single submitter
- c.1012-15G>A Single submitter hyperprolinemia type 1
- c.1012-18C>T Single submitter hyperprolinemia type 1
- c.1012-9C>T Single submitter hyperprolinemia type 1
- c.1105-13C>G Single submitter hyperprolinemia type 1
- c.1105-14C>G Single submitter hyperprolinemia type 1
- c.1105-9G>A Single submitter hyperprolinemia type 1
- c.1251+12C>T Single submitter hyperprolinemia type 1
- c.1251+15A>G Single submitter hyperprolinemia type 1
- c.1251+20C>T Single submitter hyperprolinemia type 1
- c.1251+419G>A Single submitter Inborn genetic diseases
- c.1251+7C>T Single submitter hyperprolinemia type 1
- c.1251+9C>T Single submitter
- c.1428-15T>C Single submitter hyperprolinemia type 1
- c.1526+11C>G Single submitter hyperprolinemia type 1
- c.1527-19C>T Single submitter hyperprolinemia type 1
- c.1527-9C>T Single submitter hyperprolinemia type 1
- c.1615+13C>G Single submitter hyperprolinemia type 1
- c.1615+20G>C Single submitter hyperprolinemia type 1
- c.1615+20G>T Single submitter hyperprolinemia type 1
- c.1616-16A>T Single submitter hyperprolinemia type 1
- c.1616-20G>A Single submitter hyperprolinemia type 1
- c.1616-4G>A Single submitter hyperprolinemia type 1
- c.273+16G>A Single submitter hyperprolinemia type 1
- c.273+18G>C Single submitter
- c.273+9G>T Single submitter hyperprolinemia type 1
- c.482+15G>A Single submitter hyperprolinemia type 1
- c.517+17C>T Single submitter hyperprolinemia type 1
- c.517+18G>A Single submitter
- c.518-19C>A Single submitter hyperprolinemia type 1
- c.518-4C>T Single submitter hyperprolinemia type 1
- c.518-7A>G Single submitter
- c.668-10C>T Single submitter hyperprolinemia type 1
- c.668-5G>A Single submitter hyperprolinemia type 1
- c.732+14C>A Single submitter hyperprolinemia type 1
- c.733-13C>T Single submitter hyperprolinemia type 1
- c.733-8G>A Single submitter hyperprolinemia type 1
- c.733-9C>T Single submitter hyperprolinemia type 1
- c.849+16_849+17del Single submitter hyperprolinemia type 1
- c.850-18G>C Single submitter hyperprolinemia type 1
- c.929+12C>G Single submitter hyperprolinemia type 1
- c.930-7C>T Single submitter hyperprolinemia type 1
- c.*5C>T Single submitter
- p.Ala203= Single submitter hyperprolinemia type 1
- p.Ala221= Single submitter
- p.Ala23= Single submitter hyperprolinemia type 1
- p.Ala268= Single submitter hyperprolinemia type 1
- p.Ala43= Single submitter hyperprolinemia type 1
- p.Ala448= Single submitter hyperprolinemia type 1
- p.Ala6= Single submitter hyperprolinemia type 1
- p.Ala9= Single submitter hyperprolinemia type 1
- p.Arg11= Single submitter
- p.Arg27= Single submitter hyperprolinemia type 1
- p.Arg324= Single submitter hyperprolinemia type 1
- p.Arg376Trp Single submitter hyperprolinemia type 1
- p.Arg4= Single submitter hyperprolinemia type 1
- p.Arg564= Single submitter hyperprolinemia type 1
- p.Arg591= Single submitter
- p.Asn204= Single submitter hyperprolinemia type 1
- p.Asn471= Single submitter hyperprolinemia type 1
- p.Asn488= Single submitter hyperprolinemia type 1
- p.Asn568= Single submitter hyperprolinemia type 1
- p.Asp178= Single submitter
- p.Gln123= Single submitter hyperprolinemia type 1
- p.Gln59= Single submitter
- p.Glu156= Single submitter hyperprolinemia type 1
- p.Gly41= Single submitter hyperprolinemia type 1
- p.Gly444= Single submitter
- p.Ile219= Single submitter hyperprolinemia type 1
- p.Ile297= Single submitter hyperprolinemia type 1
- p.Leu235Phe Single submitter hyperprolinemia type 1
- p.Leu277= Single submitter hyperprolinemia type 1
- p.Leu327= Single submitter hyperprolinemia type 1
- p.Leu341= Single submitter hyperprolinemia type 1
- p.Leu366= Single submitter hyperprolinemia type 1
- p.Leu482= Single submitter hyperprolinemia type 1
- p.Leu515= Single submitter
- p.Leu558= Single submitter hyperprolinemia type 1
- p.Leu586= Single submitter hyperprolinemia type 1
- p.Leu85= Single submitter hyperprolinemia type 1
- p.Leu92= Single submitter hyperprolinemia type 1
- p.Phe136= Single submitter hyperprolinemia type 1
- p.Pro12= Single submitter
- p.Pro152= Single submitter hyperprolinemia type 1
- p.Pro19= Single submitter hyperprolinemia type 1
- p.Pro462= Single submitter hyperprolinemia type 1
- p.Pro465= Single submitter hyperprolinemia type 1
- p.Pro537= Single submitter hyperprolinemia type 1
- p.Pro553= Single submitter hyperprolinemia type 1
- p.Pro8= Single submitter hyperprolinemia type 1
- p.Pro83= Single submitter hyperprolinemia type 1
- p.Ser285= Single submitter hyperprolinemia type 1
- p.Thr112= Single submitter hyperprolinemia type 1
- p.Thr22= Single submitter hyperprolinemia type 1
- p.Thr357= Single submitter hyperprolinemia type 1
- p.Thr384= Single submitter hyperprolinemia type 1
- p.Thr394= Single submitter hyperprolinemia type 1
- p.Tyr114= Single submitter
- p.Tyr133= Single submitter hyperprolinemia type 1
- p.Tyr385= Single submitter
- p.Tyr548= Single submitter hyperprolinemia type 1
- p.Val286= Single submitter hyperprolinemia type 1
Uncertain significance 192
- c.1427+4C>T Multiple submitters hyperprolinemia type 1
- c.1615+1G>C Multiple submitters hyperprolinemia type 1
- c.482+6G>A Multiple submitters hyperprolinemia type 1
- c.929+3G>A Multiple submitters hyperprolinemia type 1
- p.Ala140Thr Multiple submitters hyperprolinemia type 1
- p.Ala268Val Multiple submitters hyperprolinemia type 1
- p.Ala336Thr Multiple submitters hyperprolinemia type 1
- p.Ala43Val Multiple submitters hyperprolinemia type 1
- p.Ala491Ser Multiple submitters hyperprolinemia type 1
- p.Arg131Gln Multiple submitters schizophrenia 4
- p.Arg131Trp Multiple submitters schizophrenia 4
- p.Arg217Cys Multiple submitters hyperprolinemia type 1
- p.Arg362Gln Multiple submitters hyperprolinemia type 1
- p.Arg432His Multiple submitters hyperprolinemia type 1
- p.Arg443Gln Multiple submitters schizophrenia 4
- p.Arg443Trp Multiple submitters schizophrenia 4
- p.Arg579Trp Multiple submitters hyperprolinemia type 1
- p.Arg588Lys Multiple submitters hyperprolinemia type 1
- p.Arg589Trp Multiple submitters Inborn genetic diseases
- p.Arg591Gln Multiple submitters hyperprolinemia type 1
- p.Arg598Cys Multiple submitters hyperprolinemia type 1
- p.Asn204Ser Multiple submitters hyperprolinemia type 1
- p.Asn335Asp Multiple submitters hyperprolinemia type 1
- p.Asp322Asn Multiple submitters hyperprolinemia type 1
- p.Asp364Gly Multiple submitters hyperprolinemia type 1
- p.Cys218Phe Multiple submitters schizophrenia 4
- p.Cys256Phe Multiple submitters hyperprolinemia type 1
- p.Gln102Arg Multiple submitters hyperprolinemia type 1
- p.Gln413Pro Multiple submitters schizophrenia 4
- p.Glu468Lys Multiple submitters hyperprolinemia type 1
- p.Glu90Lys Multiple submitters hyperprolinemia type 1
- p.Gly193Asp Multiple submitters hyperprolinemia type 1
- p.Gly458Asp Multiple submitters hyperprolinemia type 1
- p.Ile195Val Multiple submitters hyperprolinemia type 1
- p.Leu395Val Multiple submitters hyperprolinemia type 1
- p.Lys107Glu Multiple submitters schizophrenia 4
- p.Met378Lys Multiple submitters hyperprolinemia type 1
- p.Pro388Leu Multiple submitters schizophrenia 4
- p.Pro51Leu Multiple submitters schizophrenia 4
- p.Pro8Ser Multiple submitters schizophrenia 4
- p.Ser285Gly Multiple submitters Inborn genetic diseases
- p.Thr394Met Multiple submitters hyperprolinemia type 1
- p.Thr44_Ala52del Multiple submitters hyperprolinemia type 1
- p.Val365Ile Multiple submitters hyperprolinemia type 1
- p.Val375Met Multiple submitters schizophrenia 4
- p.Val545Met Multiple submitters schizophrenia 4
- p.Val554Met Multiple submitters hyperprolinemia type 1
- c.1012-3C>T Single submitter hyperprolinemia type 1
- c.1105-17C>A Single submitter hyperprolinemia type 1
- c.1252-9G>T Single submitter hyperprolinemia type 1
- c.1527-3C>T Single submitter hyperprolinemia type 1
- c.1615+1G>T Single submitter
- c.1615+24_1615+38del Single submitter hyperprolinemia type 1
- c.273+7G>C Single submitter hyperprolinemia type 1
- c.517+10A>T Single submitter hyperprolinemia type 1
- c.517+6_517+9del Single submitter hyperprolinemia type 1
- c.732+1G>A Single submitter
- c.850-15T>A Single submitter hyperprolinemia type 1
- c.930-7C>G Single submitter hyperprolinemia type 1
- p.Ala167Val Single submitter hyperprolinemia type 1
- p.Ala203Gly Single submitter hyperprolinemia type 1
- p.Ala268Glu Single submitter hyperprolinemia type 1
- p.Ala280Val Single submitter Inborn genetic diseases
- p.Ala292Glu Single submitter hyperprolinemia type 1
- p.Ala31Val Single submitter hyperprolinemia type 1
- p.Ala32Ser Single submitter Inborn genetic diseases
- p.Ala32Val Single submitter Inborn genetic diseases
- p.Ala36Thr Single submitter hyperprolinemia type 1
- p.Ala430Thr Single submitter hyperprolinemia type 1
- p.Ala445Thr Single submitter hyperprolinemia type 1
- p.Ala469Val Single submitter hyperprolinemia type 1
- p.Ala496Val Single submitter hyperprolinemia type 1
- p.Ala506Thr Single submitter hyperprolinemia type 1
- p.Ala6Thr Single submitter hyperprolinemia type 1
- p.Ala87Thr Single submitter hyperprolinemia type 1
- p.Arg177Gln Single submitter hyperprolinemia type 1
- p.Arg177Trp Single submitter
- p.Arg190Cys Single submitter hyperprolinemia type 1
- p.Arg190His Single submitter hyperprolinemia type 1
- p.Arg190Leu Single submitter hyperprolinemia type 1
- p.Arg198Cys Single submitter hyperprolinemia type 1
- p.Arg198Leu Single submitter hyperprolinemia type 1
- p.Arg217Ser Single submitter hyperprolinemia type 1
- p.Arg224Thr Single submitter Inborn genetic diseases
- p.Arg27Leu Single submitter hyperprolinemia type 1
- p.Arg294Gly Single submitter hyperprolinemia type 1
- p.Arg392Cys Single submitter hyperprolinemia type 1
- p.Arg432Cys Single submitter hyperprolinemia type 1
- p.Arg432Gly Single submitter hyperprolinemia type 1
- p.Arg453His Single submitter
- p.Arg453Pro Single submitter hyperprolinemia type 1
- p.Arg504Cys Single submitter
- p.Arg579Gln Single submitter
- p.Arg591Ter Single submitter
- p.Arg598His Single submitter hyperprolinemia type 1
- p.Arg63Cys Single submitter hyperprolinemia type 1
- p.Arg65Trp Single submitter hyperprolinemia type 1
- p.Asn204Asp Single submitter hyperprolinemia type 1
- p.Asn402Ser Single submitter hyperprolinemia type 1
- p.Asn464His Single submitter hyperprolinemia type 1
- p.Asn471Asp Single submitter
- p.Asn499Lys Single submitter hyperprolinemia type 1
- p.Asn499Ser Single submitter hyperprolinemia type 1
- p.Asp143Tyr Single submitter hyperprolinemia type 1
- p.Asp149Asn Single submitter Inborn genetic diseases
- p.Asp178Asn Single submitter hyperprolinemia type 1
- p.Asp227Asn Single submitter hyperprolinemia type 1
- p.Asp228Glu Single submitter
- p.Asp299Tyr Single submitter hyperprolinemia type 1
- p.Asp426Glu Single submitter hyperprolinemia type 1
- p.Cys414Trp Single submitter hyperprolinemia type 1
- p.Gln91= Single submitter hyperprolinemia type 1
- p.Glu153Ala Single submitter hyperprolinemia type 1
- p.Glu249Gly Single submitter hyperprolinemia type 1
- p.Glu249Lys Single submitter hyperprolinemia type 1
- p.Glu284Lys Single submitter
- p.Glu28Lys Single submitter hyperprolinemia type 1
- p.Glu350Gly Single submitter hyperprolinemia type 1
- p.Glu353del Single submitter hyperprolinemia type 1
- p.Glu372Gln Single submitter hyperprolinemia type 1
- p.Glu433Lys Single submitter hyperprolinemia type 1
- p.Glu450Asp Single submitter hyperprolinemia type 1
- p.Glu450Gly Single submitter hyperprolinemia type 1
- p.Glu450Lys Single submitter hyperprolinemia type 1
- p.Glu511Lys Single submitter hyperprolinemia type 1
- p.Glu90Asp Single submitter hyperprolinemia type 1
- p.Gly120Arg Single submitter hyperprolinemia type 1
- p.Gly229Ser Single submitter hyperprolinemia type 1
- p.Gly310Val Single submitter hyperprolinemia type 1
- p.Gly40Arg Single submitter hyperprolinemia type 1
- p.Gly40Ser Single submitter hyperprolinemia type 1
- p.Gly41Glu Single submitter hyperprolinemia type 1
- p.Gly434Asp Single submitter hyperprolinemia type 1
- p.Gly444Asp Single submitter hyperprolinemia type 1
- p.His157Gln Single submitter
- p.His520Tyr Single submitter hyperprolinemia type 1
- p.His597Gln Single submitter hyperprolinemia type 1
- p.Ile14Thr Single submitter hyperprolinemia type 1
- p.Ile219Met Single submitter hyperprolinemia type 1
- p.Ile233Leu Single submitter hyperprolinemia type 1
- p.Leu100Val Single submitter hyperprolinemia type 1
- p.Leu238Arg Single submitter hyperprolinemia type 1
- p.Leu245Gln Single submitter hyperprolinemia type 1
- p.Leu277Met Single submitter hyperprolinemia type 1
- p.Leu366Pro Single submitter schizophrenia 4
- p.Leu441Gln Single submitter
- p.Leu441Val Single submitter hyperprolinemia type 1
- p.Leu515Arg Single submitter hyperprolinemia type 1
- p.Leu538Met Single submitter hyperprolinemia type 1
- p.Leu75Met Single submitter hyperprolinemia type 1
- p.Leu79Phe Single submitter hyperprolinemia type 1
- p.Leu79Ser Single submitter hyperprolinemia type 1
- p.Leu93fs Single submitter
- p.Leu99Arg Single submitter hyperprolinemia type 1
- p.Lys368= Single submitter hyperprolinemia type 1
- p.Met312Val Single submitter hyperprolinemia type 1
- p.Met397Arg Single submitter hyperprolinemia type 1
- p.Met473Thr Single submitter hyperprolinemia type 1
- p.Phe113Tyr Single submitter hyperprolinemia type 1
- p.Phe117Ser Single submitter hyperprolinemia type 1
- p.Phe17Val Single submitter hyperprolinemia type 1
- p.Phe437Ser Single submitter hyperprolinemia type 1
- p.Phe596Leu Single submitter hyperprolinemia type 1
- p.Pro128Leu Single submitter hyperprolinemia type 1
- p.Pro152Ala Single submitter Inborn genetic diseases
- p.Pro15Ser Single submitter hyperprolinemia type 1
- p.Pro241Ser Single submitter hyperprolinemia type 1
- p.Pro24Leu Single submitter Inborn genetic diseases
- p.Pro30His Single submitter hyperprolinemia type 1
- p.Pro465Ser Single submitter hyperprolinemia type 1
- p.Pro51Ser Single submitter hyperprolinemia type 1
- p.Pro599His Single submitter hyperprolinemia type 1
- p.Pro8Ala Single submitter hyperprolinemia type 1
- p.Ser162Phe Single submitter
- p.Ser162Tyr Single submitter hyperprolinemia type 1
- p.Ser309Pro Single submitter hyperprolinemia type 1
- p.Ser323Gly Single submitter hyperprolinemia type 1
- p.Ser346Ala Single submitter hyperprolinemia type 1
- p.Ser346Phe Single submitter
- p.Ser64fs Single submitter
- p.Ter601= Single submitter hyperprolinemia type 1
- p.Thr349Ala Single submitter hyperprolinemia type 1
- p.Thr44Arg Single submitter hyperprolinemia type 1
- p.Thr466Lys Single submitter hyperprolinemia type 1
- p.Thr502Ile Single submitter
- p.Trp583Leu Single submitter hyperprolinemia type 1
- p.Tyr474Asp Single submitter hyperprolinemia type 1
- p.Val308Met Single submitter hyperprolinemia type 1
- p.Val365= Single submitter hyperprolinemia type 1
- p.Val365Phe Single submitter
- p.Val549Met Single submitter Inborn genetic diseases
- p.Trp254Ter No assertion criteria