SPPL2A — 367 ClinVar variants
All ClinVar germline SPPL2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →
2 Pathogenic · 2 Conflicting · 11 Benign · 8 Benign/Likely benign · 131 Likely benign · 213 Uncertain significance
Full SPPL2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 169
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 lean, ClinVar uncertain 135
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SPPL2A p.Ala298Val Uncertain significance Multiple submitters
- SPPL2A p.Ala480Thr Uncertain significance Multiple submitters
- SPPL2A p.Arg281Cys Uncertain significance Multiple submitters
- SPPL2A p.Arg281His Uncertain significance Multiple submitters
- SPPL2A p.Asn66Thr Uncertain significance Multiple submitters
- SPPL2A p.Cys230Tyr Uncertain significance Multiple submitters
- SPPL2A p.Cys42Arg Uncertain significance Multiple submitters
- SPPL2A p.Glu366Lys Uncertain significance Multiple submitters
- SPPL2A p.Gly125Asp Uncertain significance Multiple submitters
- SPPL2A p.Ile103Thr Uncertain significance Multiple submitters
- SPPL2A p.Ile135Leu Uncertain significance Multiple submitters
- SPPL2A p.Ile251Val Uncertain significance Multiple submitters
- SPPL2A p.Ile254Val Uncertain significance Multiple submitters
- SPPL2A p.Ile271Leu Uncertain significance Multiple submitters
- SPPL2A p.Ile290Thr Uncertain significance Multiple submitters
- SPPL2A p.Ile29Val Uncertain significance Multiple submitters
- SPPL2A p.Ile342Val Uncertain significance Multiple submitters
- SPPL2A p.Ile361Val Uncertain significance Multiple submitters
- SPPL2A p.Ile474Thr Uncertain significance Multiple submitters
- SPPL2A p.Leu195Met Uncertain significance Multiple submitters
- SPPL2A p.Leu267Val Uncertain significance Multiple submitters
- SPPL2A p.Lys100Asn Uncertain significance Multiple submitters
- SPPL2A p.Lys134Glu Uncertain significance Multiple submitters
- SPPL2A p.Lys143Arg Uncertain significance Multiple submitters
- SPPL2A p.Met172Val Uncertain significance Multiple submitters
- SPPL2A p.Met285Val Uncertain significance Multiple submitters
- SPPL2A p.Phe181Ile Uncertain significance Multiple submitters
- SPPL2A p.Pro80His Uncertain significance Multiple submitters
- SPPL2A p.Ser494Gly Uncertain significance Multiple submitters
- SPPL2A p.Ser54Ile Uncertain significance Multiple submitters
- SPPL2A p.Thr451Ile Uncertain significance Multiple submitters
- SPPL2A p.Tyr394Cys Uncertain significance Multiple submitters
- SPPL2A p.Tyr434Cys Uncertain significance Multiple submitters
- SPPL2A p.Val223Ala Uncertain significance Multiple submitters
- SPPL2A p.Ala104Val Uncertain significance Single submitter
- SPPL2A p.Ala179Gly Uncertain significance Single submitter
- SPPL2A p.Ala200Thr Uncertain significance Single submitter
- SPPL2A p.Ala24Thr Uncertain significance Single submitter
- SPPL2A p.Ala257Thr Uncertain significance Single submitter
- SPPL2A p.Ala25Thr Uncertain significance Single submitter
- SPPL2A p.Ala313Pro Uncertain significance Single submitter
- SPPL2A p.Ala373Thr Uncertain significance Single submitter
- SPPL2A p.Ala504Thr Uncertain significance Single submitter
- SPPL2A p.Arg206Gly Uncertain significance Single submitter
- SPPL2A p.Arg424Lys Uncertain significance Single submitter
- SPPL2A p.Arg425Ile Uncertain significance Single submitter
- SPPL2A p.Arg483Cys Uncertain significance Single submitter
- SPPL2A p.Arg5Gln Uncertain significance Single submitter
- SPPL2A p.Asn116Ser Uncertain significance Single submitter
- SPPL2A p.Asn46Asp Uncertain significance Single submitter
- SPPL2A p.Asn506Ser Uncertain significance Single submitter
- SPPL2A p.Asn66Lys Uncertain significance Single submitter
- SPPL2A p.Asn74Lys Uncertain significance Single submitter
- SPPL2A p.Asn74Ser Uncertain significance Single submitter
- SPPL2A p.Cys276Tyr Uncertain significance Single submitter
- SPPL2A p.Gln26Arg Uncertain significance Single submitter
- SPPL2A p.Gln516Glu Uncertain significance Single submitter
- SPPL2A p.Gly191Val Uncertain significance Single submitter
- SPPL2A p.Gly282Asp Uncertain significance Single submitter
- SPPL2A p.Gly321Trp Uncertain significance Single submitter
- SPPL2A p.Gly431Asp Uncertain significance Single submitter
- SPPL2A p.Gly431Ser Uncertain significance Single submitter
- SPPL2A p.Gly447Ala Uncertain significance Single submitter
- SPPL2A p.Gly461Arg Uncertain significance Single submitter
- SPPL2A p.His269Asn Uncertain significance Single submitter
- SPPL2A p.His96Gln Uncertain significance Single submitter
- SPPL2A p.His96Leu Uncertain significance Single submitter
- SPPL2A p.Ile103Met Uncertain significance Single submitter
- SPPL2A p.Ile137Val Uncertain significance Single submitter
- SPPL2A p.Ile322Asn Uncertain significance Single submitter
- SPPL2A p.Ile407Val Uncertain significance Single submitter
- SPPL2A p.Ile435Met Uncertain significance Single submitter
- SPPL2A p.Ile449Met Uncertain significance Single submitter
- SPPL2A p.Leu113Ser Uncertain significance Single submitter
- SPPL2A p.Leu192Val Uncertain significance Single submitter
- SPPL2A p.Leu22Gln Uncertain significance Single submitter
- SPPL2A p.Leu292Val Uncertain significance Single submitter
- SPPL2A p.Leu326Met Uncertain significance Single submitter
- SPPL2A p.Leu332Pro Uncertain significance Single submitter
- SPPL2A p.Leu344Pro Uncertain significance Single submitter
- SPPL2A p.Leu402Phe Uncertain significance Single submitter
- SPPL2A p.Leu457Met Uncertain significance Single submitter
- SPPL2A p.Leu457Pro Uncertain significance Single submitter
- SPPL2A p.Leu465Val Uncertain significance Single submitter
- SPPL2A p.Leu75Ile Uncertain significance Single submitter
- SPPL2A p.Lys212Asn Uncertain significance Single submitter
- SPPL2A p.Lys487Gln Uncertain significance Single submitter
- SPPL2A p.Met112Val Uncertain significance Single submitter
- SPPL2A p.Met160Thr Uncertain significance Single submitter
- SPPL2A p.Met172Ile Uncertain significance Single submitter
- SPPL2A p.Met208Ile Uncertain significance Single submitter
- SPPL2A p.Met233Val Uncertain significance Single submitter
- SPPL2A p.Met258Val Uncertain significance Single submitter
- SPPL2A p.Met285Thr Uncertain significance Single submitter
- SPPL2A p.Met398Lys Uncertain significance Single submitter
- SPPL2A p.Met43Val Uncertain significance Single submitter
- SPPL2A p.Met65Ile Uncertain significance Single submitter
- SPPL2A p.Phe121Leu Uncertain significance Single submitter
- SPPL2A p.Phe139Ser Uncertain significance Single submitter
- SPPL2A p.Phe353Ser Uncertain significance Single submitter
- SPPL2A p.Phe354Leu Uncertain significance Single submitter
- SPPL2A p.Phe356Leu Uncertain significance Single submitter
- SPPL2A p.Pro470Leu Uncertain significance Single submitter
- SPPL2A p.Ser164Leu Uncertain significance Single submitter
- SPPL2A p.Ser164Pro Uncertain significance Single submitter
- SPPL2A p.Ser33Cys Uncertain significance Single submitter
- SPPL2A p.Ser440Pro Uncertain significance Single submitter
- SPPL2A p.Thr277Lys Uncertain significance Single submitter
- SPPL2A p.Thr277Met Uncertain significance Single submitter
- SPPL2A p.Thr37Arg Uncertain significance Single submitter
- SPPL2A p.Thr451Arg Uncertain significance Single submitter
- SPPL2A p.Thr472Arg Uncertain significance Single submitter
- SPPL2A p.Thr55Ala Uncertain significance Single submitter
- SPPL2A p.Thr70Ala Uncertain significance Single submitter
- SPPL2A p.Thr70Ile Uncertain significance Single submitter
- SPPL2A p.Trp92Arg Uncertain significance Single submitter
- SPPL2A p.Tyr188Cys Uncertain significance Single submitter
- SPPL2A p.Tyr436Cys Uncertain significance Single submitter
- SPPL2A p.Tyr437Cys Uncertain significance Single submitter
- SPPL2A p.Tyr45His Uncertain significance Single submitter
- SPPL2A p.Tyr495Cys Uncertain significance Single submitter
- SPPL2A p.Val119Ile Uncertain significance Single submitter
- SPPL2A p.Val119Leu Uncertain significance Single submitter
- SPPL2A p.Val119Phe Uncertain significance Single submitter
- SPPL2A p.Val177Ile Uncertain significance Single submitter
- SPPL2A p.Val201Ala Uncertain significance Single submitter
- SPPL2A p.Val228Gly Uncertain significance Single submitter
- SPPL2A p.Val228Phe Uncertain significance Single submitter
- SPPL2A p.Val299Ala Uncertain significance Single submitter
- SPPL2A p.Val370Ile Uncertain significance Single submitter
- SPPL2A p.Val81Ala Uncertain significance Single submitter
- SPPL2A p.Val81Leu Uncertain significance Single submitter
- SPPL2A p.Val88Ala Uncertain significance Single submitter
- SPPL2A p.Val89Met Uncertain significance Single submitter
-
SPPL2A p.Met458Val
Uncertain significance
No assertion criteria
SPPL2A-related disorder
Predictors split 34
The independent predictors disagree with each other — read with care.
- SPPL2A p.Ala179Val Uncertain significance Multiple submitters
- SPPL2A p.Arg424Thr Uncertain significance Multiple submitters
- SPPL2A p.Asp40Tyr Uncertain significance Multiple submitters
- SPPL2A p.Asp427Glu Likely benign Multiple submitters
- SPPL2A p.Gly34Glu Benign/Likely benign Multiple submitters
- SPPL2A p.Gly82Asp Uncertain significance Multiple submitters
- SPPL2A p.Pro79Ala Uncertain significance Multiple submitters
- SPPL2A p.Val173Met Uncertain significance Multiple submitters
- SPPL2A p.Ala179Glu Uncertain significance Single submitter
- SPPL2A p.Ala298Glu Uncertain significance Single submitter
- SPPL2A p.Ala32Thr Uncertain significance Single submitter
- SPPL2A p.Ala421Val Uncertain significance Single submitter
- SPPL2A p.Arg307Gln Uncertain significance Single submitter
- SPPL2A p.Cys423Ser Uncertain significance Single submitter
- SPPL2A p.Ile225Lys Uncertain significance Single submitter
- SPPL2A p.Ile254Thr Uncertain significance Single submitter
- SPPL2A p.Ile297Lys Uncertain significance Single submitter
- SPPL2A p.Ile78Thr Uncertain significance Single submitter
- SPPL2A p.Leu468Val Uncertain significance Single submitter
- SPPL2A p.Leu52Val Uncertain significance Single submitter
- SPPL2A p.Lys242Ile Uncertain significance Single submitter
- SPPL2A p.Lys330Glu Uncertain significance Single submitter
- SPPL2A p.Met233Thr Uncertain significance Single submitter
- SPPL2A p.Met448Ile Uncertain significance Single submitter
- SPPL2A p.Met448Val Uncertain significance Single submitter
- SPPL2A p.Phe139Cys Uncertain significance Single submitter
- SPPL2A p.Phe426Leu Uncertain significance Single submitter
- SPPL2A p.Pro404Leu Uncertain significance Single submitter
- SPPL2A p.Pro79Arg Uncertain significance Single submitter
- SPPL2A p.Pro79Ser Uncertain significance Single submitter
- SPPL2A p.Ser367Asn Uncertain significance Single submitter
- SPPL2A p.Thr182Pro Uncertain significance Single submitter
- SPPL2A p.Thr358Ser Uncertain significance Single submitter
- SPPL2A p.Val301Phe Uncertain significance Single submitter
All SPPL2A variants
Pathogenic 2
- c.1328-1G>A No assertion criteria immunodeficiency 86
- c.733+1G>A No assertion criteria immunodeficiency 86
Conflicting classifications of pathogenicity 2
- c.831-3T>C Single submitter
- p.Trp92Ter Single submitter immunodeficiency 86
Benign 11
- c.1090-4T>G Multiple submitters
- c.1147-37GTTTT[5] Multiple submitters
- p.Asn126Asp Multiple submitters
- p.Gly345= Multiple submitters
- p.Thr475Ser Multiple submitters
- c.1147-57C>T Single submitter
- c.360+87A>G Single submitter
- c.451-66A>G Single submitter
- c.734-4dup Single submitter
- c.830+93A>G Single submitter
- c.933-3dup Single submitter
Benign/Likely benign 8
- c.1015-17G>A Multiple submitters
- c.1147-37GTTTT[4] Multiple submitters
- c.1147-37GTTTT[7] Multiple submitters
- c.1327+12T>C Multiple submitters
- c.450+17A>G Multiple submitters
- p.Gly34Glu Multiple submitters ⚠
- p.Ile393= Multiple submitters
- p.Val518= Multiple submitters
Likely benign 131
- c.1147-5A>G Multiple submitters
- c.1489-19G>T Multiple submitters
- c.360+16A>G Multiple submitters
- c.932+12C>G Multiple submitters
- p.Ala179= Multiple submitters
- p.Ala200Ser Multiple submitters
- p.Ala200Val Multiple submitters
- p.Asp427Glu Multiple submitters ⚠
- p.Gly321= Multiple submitters
- p.Leu372= Multiple submitters
- p.Lys460= Multiple submitters
- p.Lys491= Multiple submitters
- p.Val90Ile Multiple submitters
- c.1014+13A>G Single submitter
- c.1014+20T>C Single submitter
- c.1014+8A>G Single submitter
- c.1015-10T>C Single submitter
- c.1089+7C>G Single submitter
- c.1089+8_1089+10del Single submitter
- c.1090-20_1090-18del Single submitter
- c.1146+12A>G Single submitter
- c.1146+7A>T Single submitter
- c.1147-14_1147-13del Single submitter
- c.1147-37GTTTT[3] Single submitter
- c.1147-7T>C Single submitter
- c.1147-9T>C Single submitter
- c.1249+16A>C Single submitter
- c.1249+19_1249+21del Single submitter
- c.1250-13T>C Single submitter
- c.1250-17T>G Single submitter
- c.1250-19GTTTT[2] Single submitter
- c.1250-4T>G Single submitter
- c.1327+11del Single submitter
- c.1327+18T>G Single submitter
- c.1327+20T>A Single submitter
- c.1328-13A>G Single submitter
- c.1328-19C>T Single submitter
- c.1488+13A>G Single submitter
- c.1488+19G>A Single submitter
- c.1489-19G>A Single submitter
- c.1489-20C>T Single submitter
- c.1489-6G>T Single submitter
- c.177+14A>G Single submitter
- c.178-11C>G Single submitter
- c.178-13T>G Single submitter
- c.178-18G>A Single submitter
- c.361-10dup Single submitter
- c.450+16C>T Single submitter
- c.450+9G>A Single submitter
- c.451-18T>C Single submitter
- c.451-21_451-18del Single submitter
- c.451-8C>T Single submitter
- c.584+11_584+14del Single submitter
- c.584+15_584+19del Single submitter
- c.584+15C>T Single submitter
- c.584+16_584+17del Single submitter
- c.584+20G>A Single submitter
- c.585-14G>A Single submitter
- c.585-17C>T Single submitter
- c.585-20G>T Single submitter
- c.585-4A>G Single submitter
- c.66+16G>T Single submitter
- c.67-13G>C Single submitter
- c.67-15T>C Single submitter
- c.67-16A>G Single submitter
- c.733+13A>G Single submitter
- c.734-18G>A Single submitter
- c.734-9T>C Single submitter
- c.830+11_830+12del Single submitter
- c.830+12_830+13del Single submitter
- c.830+15C>G Single submitter
- c.830+17G>A Single submitter
- c.830+7A>G Single submitter
- c.831-16T>A Single submitter
- c.932+10del Single submitter
- c.932+14A>G Single submitter
- c.932+14dup Single submitter
- c.933-13T>C Single submitter
- c.933-14T>C Single submitter
- p.Ala200Leu Single submitter
- p.Ala24= Single submitter
- p.Ala25= Single submitter
- p.Ala32= Single submitter
- p.Ala421= Single submitter
- p.Asn126= Single submitter
- p.Asn155= Single submitter
- p.Asn364= Single submitter
- p.Asp154= Single submitter
- p.Asp205= Single submitter
- p.Asp499Asn Single submitter
- p.Cys253= Single submitter
- p.Cys401= Single submitter
- p.Cys423= Single submitter
- p.Gln317= Single submitter
- p.Glu309= Single submitter
- p.Glu485= Single submitter
- p.Gly108= Single submitter
- p.Gly191= Single submitter
- p.Gly36= Single submitter
- p.Gly514= Single submitter
- p.Ile229= Single submitter
- p.Ile512Thr Single submitter
- p.Leu267= Single submitter
- p.Leu292= Single submitter
- p.Leu418= Single submitter
- p.Leu455= Single submitter
- p.Leu56= Single submitter
- p.Lys106= Single submitter
- p.Lys84= Single submitter
- p.Met285Ile Single submitter
- p.Phe130= Single submitter
- p.Phe356= Single submitter
- p.Phe377= Single submitter
- p.Pro272= Single submitter
- p.Pro335= Single submitter
- p.Pro404= Single submitter
- p.Pro470= Single submitter
- p.Pro91= Single submitter
- p.Ser118= Single submitter
- p.Ser164= Single submitter
- p.Ser339= Single submitter
- p.Ser396= Single submitter
- p.Ser477= Single submitter
- p.Ser61= Single submitter
- p.Ser69= Single submitter
- p.Ser76= Single submitter
- p.Thr430= Single submitter
- p.Tyr273Cys Single submitter
- p.Tyr350= Single submitter
- p.Val389= Single submitter
- p.Val88= Single submitter
Uncertain significance 213
- p.Ala179Val Multiple submitters ⚠
- p.Ala298Val Multiple submitters ⚠
- p.Ala480Thr Multiple submitters ⚠
- p.Arg281Cys Multiple submitters ⚠
- p.Arg281His Multiple submitters ⚠
- p.Arg424Thr Multiple submitters ⚠
- p.Arg483His Multiple submitters
- p.Asn66Thr Multiple submitters ⚠
- p.Asp40Tyr Multiple submitters ⚠
- p.Cys230Tyr Multiple submitters ⚠
- p.Cys42Arg Multiple submitters ⚠
- p.Glu366Lys Multiple submitters ⚠
- p.Gly125Asp Multiple submitters ⚠
- p.Gly82Asp Multiple submitters ⚠
- p.Ile103Thr Multiple submitters ⚠
- p.Ile135Leu Multiple submitters ⚠
- p.Ile251Val Multiple submitters ⚠
- p.Ile254Val Multiple submitters ⚠
- p.Ile271Leu Multiple submitters ⚠
- p.Ile290Thr Multiple submitters ⚠
- p.Ile29Val Multiple submitters ⚠
- p.Ile342Val Multiple submitters ⚠
- p.Ile361Val Multiple submitters ⚠
- p.Ile474Thr Multiple submitters ⚠
- p.Leu195Met Multiple submitters ⚠
- p.Leu267Val Multiple submitters ⚠
- p.Lys100Asn Multiple submitters ⚠
- p.Lys134Glu Multiple submitters ⚠
- p.Lys143Arg Multiple submitters ⚠
- p.Met172Val Multiple submitters ⚠
- p.Met285Val Multiple submitters ⚠
- p.Phe181Ile Multiple submitters ⚠
- p.Pro79Ala Multiple submitters ⚠
- p.Pro80His Multiple submitters ⚠
- p.Ser494Gly Multiple submitters ⚠
- p.Ser54Ile Multiple submitters ⚠
- p.Thr451Ile Multiple submitters ⚠
- p.Tyr394Cys Multiple submitters ⚠
- p.Tyr434Cys Multiple submitters ⚠
- p.Val173Met Multiple submitters ⚠
- p.Val223Ala Multiple submitters ⚠
- c.1014+1G>A Single submitter
- c.1014+4A>G Single submitter
- c.1090-7A>G Single submitter
- c.1147-13T>A Single submitter
- c.1147-4A>G Single submitter
- c.1249+3A>C Single submitter
- c.1328-10C>A Single submitter
- c.1328-7_1328-5del Single submitter
- c.1488+1G>T Single submitter
- c.450+5A>G Single submitter
- c.733+6A>C Single submitter
- c.734-10T>G Single submitter
- c.734-13T>G Single submitter
- c.734-2A>G Single submitter
- c.830+1G>A Single submitter
- c.830+4C>T Single submitter
- c.830+5G>A Single submitter
- c.830+5G>T Single submitter
- c.932+4T>G Single submitter
- c.933-10T>C Single submitter
- c.933-8G>T Single submitter
- p.Ala104Val Single submitter ⚠
- p.Ala179Glu Single submitter ⚠
- p.Ala179Gly Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala24Thr Single submitter ⚠
- p.Ala257Thr Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala298Glu Single submitter ⚠
- p.Ala313Pro Single submitter ⚠
- p.Ala32Thr Single submitter ⚠
- p.Ala373Thr Single submitter ⚠
- p.Ala421Val Single submitter ⚠
- p.Ala445fs Single submitter
- p.Ala504Thr Single submitter ⚠
- p.Ala59= Single submitter
- p.Arg206Gly Single submitter ⚠
- p.Arg307Gln Single submitter ⚠
- p.Arg307Ter Single submitter
- p.Arg424Lys Single submitter ⚠
- p.Arg425Ile Single submitter ⚠
- p.Arg483Cys Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Asn116Ser Single submitter ⚠
- p.Asn117del Single submitter
- p.Asn46Asp Single submitter ⚠
- p.Asn506Ser Single submitter ⚠
- p.Asn66Lys Single submitter ⚠
- p.Asn74Lys Single submitter ⚠
- p.Asn74Ser Single submitter ⚠
- p.Cys253Phe Single submitter
- p.Cys276= Single submitter
- p.Cys276Tyr Single submitter ⚠
- p.Cys423Ser Single submitter ⚠
- p.Gln26Arg Single submitter ⚠
- p.Gln516Glu Single submitter ⚠
- p.Gln520Ter Single submitter
- p.Gly191Val Single submitter ⚠
- p.Gly282Asp Single submitter ⚠
- p.Gly321Trp Single submitter ⚠
- p.Gly431Asp Single submitter ⚠
- p.Gly431Ser Single submitter ⚠
- p.Gly447Ala Single submitter ⚠
- p.Gly461Arg Single submitter ⚠
- p.Gly93Arg Single submitter
- p.His269Asn Single submitter ⚠
- p.His96Gln Single submitter ⚠
- p.His96Leu Single submitter ⚠
- p.Ile103Met Single submitter ⚠
- p.Ile135Thr Single submitter
- p.Ile137Val Single submitter ⚠
- p.Ile225Lys Single submitter ⚠
- p.Ile254Thr Single submitter ⚠
- p.Ile297Lys Single submitter ⚠
- p.Ile322Asn Single submitter ⚠
- p.Ile357Met Single submitter
- p.Ile407Val Single submitter ⚠
- p.Ile435Met Single submitter ⚠
- p.Ile449Met Single submitter ⚠
- p.Ile78Thr Single submitter ⚠
- p.Leu113Ser Single submitter ⚠
- p.Leu192Val Single submitter ⚠
- p.Leu22Gln Single submitter ⚠
- p.Leu236fs Single submitter
- p.Leu292Val Single submitter ⚠
- p.Leu326Met Single submitter ⚠
- p.Leu332Pro Single submitter ⚠
- p.Leu344Pro Single submitter ⚠
- p.Leu402fs Single submitter
- p.Leu402Phe Single submitter ⚠
- p.Leu457Met Single submitter ⚠
- p.Leu457Pro Single submitter ⚠
- p.Leu465Val Single submitter ⚠
- p.Leu466_Tyr467insTer Single submitter
- p.Leu468Val Single submitter ⚠
- p.Leu52Val Single submitter ⚠
- p.Leu75Ile Single submitter ⚠
- p.Lys212Asn Single submitter ⚠
- p.Lys212Ter Single submitter
- p.Lys242Ile Single submitter ⚠
- p.Lys330Glu Single submitter ⚠
- p.Lys487Gln Single submitter ⚠
- p.Met112Val Single submitter ⚠
- p.Met160Thr Single submitter ⚠
- p.Met172Ile Single submitter ⚠
- p.Met208Ile Single submitter ⚠
- p.Met233Thr Single submitter ⚠
- p.Met233Val Single submitter ⚠
- p.Met258Val Single submitter ⚠
- p.Met285Thr Single submitter ⚠
- p.Met398Lys Single submitter ⚠
- p.Met43Val Single submitter ⚠
- p.Met448Ile Single submitter ⚠
- p.Met448Val Single submitter ⚠
- p.Met65Ile Single submitter ⚠
- p.Phe121Leu Single submitter ⚠
- p.Phe139Cys Single submitter ⚠
- p.Phe139Ser Single submitter ⚠
- p.Phe353Ser Single submitter ⚠
- p.Phe354fs Single submitter
- p.Phe354Leu Single submitter ⚠
- p.Phe356Leu Single submitter ⚠
- p.Phe426Leu Single submitter ⚠
- p.Pro376Ser Single submitter
- p.Pro404Leu Single submitter ⚠
- p.Pro463fs Single submitter
- p.Pro470Leu Single submitter ⚠
- p.Pro79Arg Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Ser164Leu Single submitter ⚠
- p.Ser164Pro Single submitter ⚠
- p.Ser164Ter Single submitter
- p.Ser33Cys Single submitter ⚠
- p.Ser367Asn Single submitter ⚠
- p.Ser396Leu Single submitter
- p.Ser439= Single submitter
- p.Ser440Pro Single submitter ⚠
- p.Ter521Tyr Single submitter
- p.Thr182Pro Single submitter ⚠
- p.Thr222Lys Single submitter
- p.Thr277Lys Single submitter ⚠
- p.Thr277Met Single submitter ⚠
- p.Thr358Ser Single submitter ⚠
- p.Thr37Arg Single submitter ⚠
- p.Thr451Arg Single submitter ⚠
- p.Thr472Arg Single submitter ⚠
- p.Thr55Ala Single submitter ⚠
- p.Thr70Ala Single submitter ⚠
- p.Thr70Ile Single submitter ⚠
- p.Trp92Arg Single submitter ⚠
- p.Tyr188Cys Single submitter ⚠
- p.Tyr215fs Single submitter
- p.Tyr436Cys Single submitter ⚠
- p.Tyr437Cys Single submitter ⚠
- p.Tyr45Cys Single submitter
- p.Tyr45His Single submitter ⚠
- p.Tyr495Cys Single submitter ⚠
- p.Val119Ile Single submitter ⚠
- p.Val119Leu Single submitter ⚠
- p.Val119Phe Single submitter ⚠
- p.Val177Ile Single submitter ⚠
- p.Val201Ala Single submitter ⚠
- p.Val228Gly Single submitter ⚠
- p.Val228Phe Single submitter ⚠
- p.Val299Ala Single submitter ⚠
- p.Val301Phe Single submitter ⚠
- p.Val370Ile Single submitter ⚠
- p.Val81Ala Single submitter ⚠
- p.Val81Leu Single submitter ⚠
- p.Val88Ala Single submitter ⚠
- p.Val89Met Single submitter ⚠
- p.Met458Val No assertion criteria SPPL2A-related disorder ⚠