MTTP — 1202 ClinVar variants
All ClinVar germline MTTP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 318 flagged for review →
70 Pathogenic · 22 Pathogenic/Likely pathogenic · 90 Likely pathogenic · 26 Conflicting · 55 Benign · 27 Benign/Likely benign · 526 Likely benign · 386 Uncertain significance
Full MTTP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 318
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 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MTTP p.Asn140Ser
Conflicting
Single submitter
abetalipoproteinemia
- MTTP p.Asn404Ser Conflicting Single submitter
-
MTTP p.Asn572Ser
Conflicting
Single submitter
abetalipoproteinemia
-
MTTP p.Glu257Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MTTP p.Glu262Lys
Conflicting
Single submitter
Inborn genetic diseases
-
MTTP p.Gly49Glu
Conflicting
Single submitter
abetalipoproteinemia
-
MTTP p.Ile564Thr
Conflicting
Single submitter
MTTP-related disorder
-
MTTP p.Leu811Phe
Conflicting
Single submitter
abetalipoproteinemia
-
MTTP p.Pro625Leu
Conflicting
Single submitter
abetalipoproteinemia
-
MTTP p.Pro625Ser
Conflicting
Single submitter
Inborn genetic diseases
-
MTTP p.Pro886Leu
Conflicting
Single submitter
Inborn genetic diseases
-
MTTP p.Ser774Ala
Conflicting
Single submitter
abetalipoproteinemia
-
MTTP p.Val42Ile
Conflicting
Single submitter
abetalipoproteinemia
Predictors lean, ClinVar uncertain 257
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 257
-
MTTP p.Ala144Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MTTP p.Ala214Ser Uncertain significance Multiple submitters
- MTTP p.Ala229Gly Uncertain significance Multiple submitters
-
MTTP p.Ala232Val
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Ala464Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Ala493Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Ala577Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MTTP p.Ala676Thr Uncertain significance Multiple submitters
-
MTTP p.Ala883Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Arg312Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MTTP p.Arg46Trp Uncertain significance Multiple submitters
-
MTTP p.Arg58His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Arg595Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Arg626Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Arg772His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Arg777Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Arg777Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Arg838Lys
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Asn442Ser
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Asn550Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Asp31Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Asp370Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Asp53Glu
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Asp723Asn
Uncertain significance
Multiple submitters
abetalipoproteinemia
- MTTP p.Cys878Trp Uncertain significance Multiple submitters
-
MTTP p.Gln839Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Glu223Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Glu462Val
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Glu566Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Glu681Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Glu681Lys
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Gly417Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Gly420Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Gly722Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Gly892Arg
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.His22Tyr
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Ile12Val
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Ile228Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Ile546Val
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Ile621Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Ile732Thr
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Leu44Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Lys278Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Lys463Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Lys522Glu
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Met268Thr
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Met692Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Pro288His
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Ser252Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Ser715Cys
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Thr123Met
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Thr235Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Thr285Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Thr434Ile
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Thr630Ala
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Tyr15His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Val293Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Val363Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Val862Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Val89Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MTTP p.Val89Ile Uncertain significance Multiple submitters
- MTTP p.Ala197Val Uncertain significance Single submitter
- MTTP p.Ala263Thr Uncertain significance Single submitter
- MTTP p.Ala274Pro Uncertain significance Single submitter
- MTTP p.Ala274Thr Uncertain significance Single submitter
- MTTP p.Ala323Thr Uncertain significance Single submitter
- MTTP p.Ala331Gly Uncertain significance Single submitter
- MTTP p.Ala410Asp Uncertain significance Single submitter
- MTTP p.Ala589Thr Uncertain significance Single submitter
-
MTTP p.Ala5Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Ala602Thr Uncertain significance Single submitter
- MTTP p.Ala628Ser Uncertain significance Single submitter
- MTTP p.Ala657Thr Uncertain significance Single submitter
- MTTP p.Ala66Thr Uncertain significance Single submitter
- MTTP p.Ala764Ser Uncertain significance Single submitter
-
MTTP p.Ala864Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Ala883Thr Uncertain significance Single submitter
- MTTP p.Ala883Val Uncertain significance Single submitter
- MTTP p.Arg150Lys Uncertain significance Single submitter
- MTTP p.Arg392Gly Uncertain significance Single submitter
- MTTP p.Arg46Gln Uncertain significance Single submitter
- MTTP p.Arg46Pro Uncertain significance Single submitter
- MTTP p.Arg510Lys Uncertain significance Single submitter
- MTTP p.Arg532His Uncertain significance Single submitter
-
MTTP p.Arg532Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Arg584His Uncertain significance Single submitter
-
MTTP p.Arg594His
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Arg626His Uncertain significance Single submitter
- MTTP p.Arg644Lys Uncertain significance Single submitter
- MTTP p.Arg772Cys Uncertain significance Single submitter
- MTTP p.Arg781Ser Uncertain significance Single submitter
- MTTP p.Arg851Thr Uncertain significance Single submitter
- MTTP p.Asn319Lys Uncertain significance Single submitter
- MTTP p.Asn525Lys Uncertain significance Single submitter
-
MTTP p.Asn551Ile
Uncertain significance
Single submitter
abetalipoproteinemia
- MTTP p.Asn62Thr Uncertain significance Single submitter
-
MTTP p.Asn874Asp
Uncertain significance
Single submitter
abetalipoproteinemia
-
MTTP p.Asp192Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Asp384Asn Uncertain significance Single submitter
- MTTP p.Asp793Val Uncertain significance Single submitter
- MTTP p.Asp887Glu Uncertain significance Single submitter
- MTTP p.Cys194Arg Uncertain significance Single submitter
- MTTP p.Gln157Arg Uncertain significance Single submitter
-
MTTP p.Gln179Arg
Uncertain significance
Single submitter
abetalipoproteinemia
- MTTP p.Gln244Pro Uncertain significance Single submitter
- MTTP p.Gln316Leu Uncertain significance Single submitter
- MTTP p.Gln441Lys Uncertain significance Single submitter
- MTTP p.Gln569Pro Uncertain significance Single submitter
- MTTP p.Gln663His Uncertain significance Single submitter
-
MTTP p.Gln669Arg
Uncertain significance
Single submitter
abetalipoproteinemia
- MTTP p.Gln744Glu Uncertain significance Single submitter
-
MTTP p.Glu114Gly
Uncertain significance
Single submitter
abetalipoproteinemia
-
MTTP p.Glu306Lys
Uncertain significance
Single submitter
abetalipoproteinemia
-
MTTP p.Glu306Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Glu566Gly Uncertain significance Single submitter
-
MTTP p.Glu766Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Glu806Gln Uncertain significance Single submitter
- MTTP p.Glu873Asp Uncertain significance Single submitter
-
MTTP p.Gly151Val
Uncertain significance
Single submitter
abetalipoproteinemia
-
MTTP p.Gly172Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTTP p.Gly172Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Gly209Ser Uncertain significance Single submitter
- MTTP p.Gly417Asp Uncertain significance Single submitter
-
MTTP p.Gly433Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTTP p.Gly612Arg
Uncertain significance
Single submitter
abetalipoproteinemia
- MTTP p.Gly709Arg Uncertain significance Single submitter
-
MTTP p.Gly74Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Gly97Glu Uncertain significance Single submitter
- MTTP p.His126Arg Uncertain significance Single submitter
-
MTTP p.His181Gln
Uncertain significance
Single submitter
abetalipoproteinemia
- MTTP p.His402Tyr Uncertain significance Single submitter
- MTTP p.Ile110Thr Uncertain significance Single submitter
-
MTTP p.Ile186Met
Uncertain significance
Single submitter
abetalipoproteinemia
- MTTP p.Ile188Thr Uncertain significance Single submitter
- MTTP p.Ile222Val Uncertain significance Single submitter
- MTTP p.Ile246Phe Uncertain significance Single submitter
-
MTTP p.Ile276Val
Uncertain significance
Single submitter
abetalipoproteinemia
-
MTTP p.Ile287Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Ile289Thr Uncertain significance Single submitter
- MTTP p.Ile344Asn Uncertain significance Single submitter
- MTTP p.Ile375Leu Uncertain significance Single submitter
- MTTP p.Ile387Val Uncertain significance Single submitter
- MTTP p.Ile419Val Uncertain significance Single submitter
- MTTP p.Ile547Thr Uncertain significance Single submitter
-
MTTP p.Ile582Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Ile621Thr Uncertain significance Single submitter
-
MTTP p.Ile732Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Ile759Val Uncertain significance Single submitter
- MTTP p.Ile786Thr Uncertain significance Single submitter
- MTTP p.Ile790Thr Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
-
MTTP p.Ala339Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Ala464Glu
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Arg594Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Asp556Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Asp793Ala
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Gly151Ser
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Gly25Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Gly264Asp
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Gly682Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Phe819Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTTP p.Thr37Met
Uncertain significance
Multiple submitters
abetalipoproteinemia
-
MTTP p.Ala835Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Arg32Trp Uncertain significance Single submitter
- MTTP p.Arg584Cys Uncertain significance Single submitter
- MTTP p.Arg58Cys Uncertain significance Single submitter
- MTTP p.Arg623Cys Uncertain significance Single submitter
- MTTP p.Asn649Ser Uncertain significance Single submitter
-
MTTP p.Asp380Val
Uncertain significance
Single submitter
abetalipoproteinemia
-
MTTP p.Asp793Gly
Uncertain significance
Single submitter
abetalipoproteinemia
- MTTP p.Glu234Asp Uncertain significance Single submitter
- MTTP p.Gly56Asp Uncertain significance Single submitter
- MTTP p.Gly655Val Uncertain significance Single submitter
- MTTP p.Gly661Asp Uncertain significance Single submitter
-
MTTP p.Gly691Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Gly755Ala Uncertain significance Single submitter
- MTTP p.Ile666Thr Uncertain significance Single submitter
- MTTP p.Leu508Phe Uncertain significance Single submitter
-
MTTP p.Leu713Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- MTTP p.Met714Ile Uncertain significance Single submitter
- MTTP p.Met714Thr Uncertain significance Single submitter
- MTTP p.Phe824Leu Uncertain significance Single submitter
- MTTP p.Pro403Ser Uncertain significance Single submitter
- MTTP p.Pro552Ala Uncertain significance Single submitter
- MTTP p.Pro679His Uncertain significance Single submitter
- MTTP p.Ser216Phe Uncertain significance Single submitter
- MTTP p.Ser590Asn Uncertain significance Single submitter
- MTTP p.Tyr34His Uncertain significance Single submitter
-
MTTP p.Val207Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTTP p.Ala504Ser
Uncertain significance
No assertion criteria
abetalipoproteinemia
-
MTTP p.Asn604Ile
Uncertain significance
No assertion criteria
abetalipoproteinemia
-
MTTP p.Asp789Val
Uncertain significance
No assertion criteria
abetalipoproteinemia
-
MTTP p.Gly444Val
Uncertain significance
No assertion criteria
abetalipoproteinemia
-
MTTP p.Leu461Phe
Uncertain significance
No assertion criteria
abetalipoproteinemia
-
MTTP p.Leu524Phe
Uncertain significance
No assertion criteria
abetalipoproteinemia
-
MTTP p.Lys466Ile
Uncertain significance
No assertion criteria
abetalipoproteinemia
-
MTTP p.Phe415Leu
Uncertain significance
No assertion criteria
abetalipoproteinemia
-
MTTP p.Ser60Cys
Uncertain significance
No assertion criteria
abetalipoproteinemia
-
MTTP p.Thr816Ile
Uncertain significance
No assertion criteria
abetalipoproteinemia
All MTTP variants
Pathogenic 70
- c.1867+1G>A Multiple submitters MTTP-related disorder
- c.2342+1G>A Multiple submitters abetalipoproteinemia
- p.Ala214fs Multiple submitters MTTP-related disorder
- p.Arg595Ter Multiple submitters MTTP-related disorder
- p.Asn140fs Multiple submitters MTTP-related disorder
- p.Gly865Ter Multiple submitters MTTP-related disorder
- p.His236fs Multiple submitters abetalipoproteinemia
- p.Ile344fs Multiple submitters
- c.1236+1G>T Single submitter
- c.1557+2T>G Single submitter abetalipoproteinemia
- c.1769+1G>A Single submitter abetalipoproteinemia
- c.2218-1G>A Single submitter abetalipoproteinemia
- c.2218-2A>G Single submitter
- c.394-2A>C Single submitter
- c.501+1G>A Single submitter abetalipoproteinemia
- p.Ala410fs Single submitter abetalipoproteinemia
- p.Arg607fs Single submitter MTTP-related disorder
- p.Arg645fs Single submitter
- p.Asp634fs Single submitter
- p.Gln244Ter Single submitter abetalipoproteinemia
- p.Gln744Ter Single submitter
- p.Gln839Ter Single submitter
- p.Gln95Ter Single submitter
- p.Glu354fs Single submitter
- p.Glu468fs Single submitter
- p.Glu566Ter Single submitter
- p.Glu570Ter Single submitter
- p.Glu860Ter Single submitter abetalipoproteinemia
- p.Gly200Ter Single submitter
- p.Gly97fs Single submitter
- p.Ile287fs Single submitter
- p.Ile500fs Single submitter
- p.Ile751fs Single submitter
- p.Leu28Ter Single submitter
- p.Leu330fs Single submitter
- p.Leu372fs Single submitter
- p.Leu411fs Single submitter
- p.Leu435fs Single submitter
- p.Leu825fs Single submitter
- p.Lys255_Leu256insTer Single submitter
- p.Lys35fs Single submitter
- p.Lys598fs Single submitter
- p.Lys779Ter Single submitter
- p.Pro204fs Single submitter
- p.Pro625fs Single submitter
- p.Pro72fs Single submitter abetalipoproteinemia
- p.Ser106fs Single submitter
- p.Ser212Ter Single submitter
- p.Ser563fs Single submitter
- p.Thr37fs Single submitter
- p.Thr618fs Single submitter
- p.Trp308Ter Single submitter
- p.Tyr138Ter Single submitter
- p.Tyr178Ter Single submitter
- p.Tyr314Ter Single submitter Inborn genetic diseases
- p.Tyr511Ter Single submitter
- p.Tyr554Ter Single submitter
- p.Tyr57Ter Single submitter
- p.Tyr605Ter Single submitter
- p.Tyr631Ter Single submitter
- p.Tyr710fs Single submitter
- p.Val185fs Single submitter
- p.Val539fs Single submitter
- p.Val63fs Single submitter
- p.Val753delinsProIleTer Single submitter
- p.Val784fs Single submitter
- c.1237-1G>A No assertion criteria abetalipoproteinemia
- p.Asn780Tyr No assertion criteria abetalipoproteinemia
- p.Ser413_Lys448del No assertion criteria abetalipoproteinemia
- p.Ser590Ile No assertion criteria abetalipoproteinemia
Pathogenic/Likely pathogenic 22
- c.1236+1G>A Multiple submitters MTTP-related disorder
- c.1769+2T>C Multiple submitters abetalipoproteinemia
- c.1867+5G>A Multiple submitters MTTP-related disorder
- p.Arg540Cys Multiple submitters abetalipoproteinemia
- p.Arg540His Multiple submitters MTTP-related disorder
- p.Arg777Ter Multiple submitters abetalipoproteinemia
- p.Asp224fs Multiple submitters abetalipoproteinemia
- p.Gln139Ter Multiple submitters abetalipoproteinemia
- p.Glu134fs Multiple submitters MTTP-related disorder
- p.Glu134Ter Multiple submitters MTTP-related disorder
- p.Glu465fs Multiple submitters abetalipoproteinemia
- p.Gly49fs Multiple submitters abetalipoproteinemia
- p.Ile547fs Multiple submitters abetalipoproteinemia
- p.Ile650fs Multiple submitters abetalipoproteinemia
- p.Leu125fs Multiple submitters abetalipoproteinemia
- p.Leu743Ter Multiple submitters abetalipoproteinemia
- p.Lys103Ter Multiple submitters abetalipoproteinemia
- p.Phe399fs Multiple submitters abetalipoproteinemia
- p.Ser738fs Multiple submitters MTTP-related disorder
- p.Thr678fs Multiple submitters MTTP-related disorder
- p.Tyr605fs Multiple submitters abetalipoproteinemia
- p.Val451fs Multiple submitters abetalipoproteinemia
Likely pathogenic 90
- c.1067+1G>C Multiple submitters abetalipoproteinemia
- c.1868-2A>G Multiple submitters abetalipoproteinemia
- c.502-1G>C Multiple submitters abetalipoproteinemia
- c.502-2A>G Multiple submitters abetalipoproteinemia
- c.619-1G>C Multiple submitters MTTP-related disorder
- c.62-2A>G Multiple submitters abetalipoproteinemia
- p.Gln569Ter Multiple submitters abetalipoproteinemia
- p.Glu462fs Multiple submitters abetalipoproteinemia
- c.1065_1067+6del Single submitter
- c.1344+2T>A Single submitter abetalipoproteinemia
- c.1344+2T>C Single submitter
- c.1769+1G>C Single submitter
- c.1867+2T>C Single submitter abetalipoproteinemia
- c.1868-1G>A Single submitter
- c.1989+1G>A Single submitter
- c.2343-1G>A Single submitter
- c.2343-2A>T Single submitter
- c.393+1G>C Single submitter
- c.494_501+11del Single submitter
- c.502-1G>A Single submitter MTTP-related disorder
- c.61+2T>C Single submitter abetalipoproteinemia
- c.904_909+2del Single submitter
- c.909+1del Single submitter
- c.909+1G>A Single submitter
- c.910-2A>C Single submitter abetalipoproteinemia
- p.Ala5fs Single submitter
- p.Ala758fs Single submitter abetalipoproteinemia
- p.Arg121fs Single submitter abetalipoproteinemia
- p.Arg645Ter Single submitter abetalipoproteinemia
- p.Asn237delinsArgCysValTer Single submitter abetalipoproteinemia
- p.Asn319fs Single submitter abetalipoproteinemia
- p.Asn525fs Single submitter abetalipoproteinemia
- p.Asn549fs Single submitter abetalipoproteinemia
- p.Asn647fs Single submitter abetalipoproteinemia
- p.Asn685fs Single submitter abetalipoproteinemia
- p.Asp169Val Single submitter abetalipoproteinemia
- p.Asp183fs Single submitter abetalipoproteinemia
- p.Cys301Ter Single submitter abetalipoproteinemia
- p.Gln120Ter Single submitter abetalipoproteinemia
- p.Gln358Ter Single submitter abetalipoproteinemia
- p.Gln367Ter Single submitter abetalipoproteinemia
- p.Gln390fs Single submitter abetalipoproteinemia
- p.Gln441Ter Single submitter abetalipoproteinemia
- p.Gln700fs Single submitter abetalipoproteinemia
- p.Gln754Ter Single submitter abetalipoproteinemia
- p.Glu141Ter Single submitter abetalipoproteinemia
- p.Glu146Ter Single submitter
- p.Glu233fs Single submitter abetalipoproteinemia
- p.Glu373Ter Single submitter abetalipoproteinemia
- p.Glu443Ter Single submitter abetalipoproteinemia
- p.Glu586Ter Single submitter abetalipoproteinemia
- p.Gly104Ter Single submitter abetalipoproteinemia
- p.Gly112Ter Single submitter abetalipoproteinemia
- p.Gly163fs Single submitter abetalipoproteinemia
- p.Gly270fs Single submitter abetalipoproteinemia
- p.Gly270Ter Single submitter abetalipoproteinemia
- p.Gly655fs Single submitter abetalipoproteinemia
- p.Gly709Ter Single submitter abetalipoproteinemia
- p.Gly746Glu Single submitter abetalipoproteinemia
- p.Leu26fs Single submitter abetalipoproteinemia
- p.Leu356Ter Single submitter abetalipoproteinemia
- p.Leu456Ter Single submitter abetalipoproteinemia
- p.Leu477fs Single submitter abetalipoproteinemia
- p.Leu674Ter Single submitter abetalipoproteinemia
- p.Leu79fs Single submitter abetalipoproteinemia
- p.Lys195Ter Single submitter abetalipoproteinemia
- p.Lys259Ter Single submitter abetalipoproteinemia
- p.Lys573Ter Single submitter abetalipoproteinemia
- p.Phe651fs Single submitter abetalipoproteinemia
- p.Phe767fs Single submitter abetalipoproteinemia
- p.Phe8fs Single submitter abetalipoproteinemia
- p.Pro679fs Single submitter abetalipoproteinemia
- p.Ser18fs Single submitter abetalipoproteinemia
- p.Ser225delinsArgCysSerPheTer Single submitter abetalipoproteinemia
- p.Ser252Ter Single submitter abetalipoproteinemia
- p.Ser27_Leu28insTer Single submitter abetalipoproteinemia
- p.Ser369Ter Single submitter abetalipoproteinemia
- p.Ser422fs Single submitter abetalipoproteinemia
- p.Ser861fs Single submitter abetalipoproteinemia
- p.Thr245fs Single submitter abetalipoproteinemia
- p.Thr705fs Single submitter abetalipoproteinemia
- p.Thr787fs Single submitter MTTP-related disorder
- p.Tyr38Ter Single submitter abetalipoproteinemia
- p.Tyr653Ter Single submitter abetalipoproteinemia
- p.Val728fs Single submitter abetalipoproteinemia
- p.Val854fs Single submitter MTTP-related disorder
- p.Val92fs Single submitter abetalipoproteinemia
- c.1067+1G>A No assertion criteria MTTP-related disorder
- c.1558-2A>G No assertion criteria abetalipoproteinemia
- p.Leu561fs No assertion criteria MTTP-related disorder
Conflicting classifications of pathogenicity 26
- c.1769+12T>C Single submitter abetalipoproteinemia
- c.1770-3C>T Single submitter
- c.393+11G>A Single submitter abetalipoproteinemia
- c.393+5A>G Single submitter abetalipoproteinemia
- c.394-7C>T Single submitter abetalipoproteinemia
- c.501+8C>T Single submitter abetalipoproteinemia
- c.502-12C>T Single submitter abetalipoproteinemia
- p.Asn140Ser Single submitter abetalipoproteinemia ⚠
- p.Asn404Ser Single submitter ⚠
- p.Asn572Ser Single submitter abetalipoproteinemia ⚠
- p.Glu257Gln Single submitter Inborn genetic diseases ⚠
- p.Glu262Lys Single submitter Inborn genetic diseases ⚠
- p.Glu324= Single submitter abetalipoproteinemia
- p.Gly49Glu Single submitter abetalipoproteinemia ⚠
- p.Ile564Thr Single submitter MTTP-related disorder ⚠
- p.Ile675= Single submitter abetalipoproteinemia
- p.Leu267= Single submitter abetalipoproteinemia
- p.Leu811Phe Single submitter abetalipoproteinemia ⚠
- p.Lys341= Single submitter abetalipoproteinemia
- p.Pro625Leu Single submitter abetalipoproteinemia ⚠
- p.Pro625Ser Single submitter Inborn genetic diseases ⚠
- p.Pro886Leu Single submitter Inborn genetic diseases ⚠
- p.Ser252= Single submitter abetalipoproteinemia
- p.Ser305= Single submitter abetalipoproteinemia
- p.Ser774Ala Single submitter abetalipoproteinemia ⚠
- p.Val42Ile Single submitter abetalipoproteinemia ⚠
Benign 55
- c.1067+102A>T Multiple submitters
- c.1068-85C>T Multiple submitters
- c.1237-85G>A Multiple submitters
- c.1769+14C>T Multiple submitters abetalipoproteinemia
- c.1769+9C>T Multiple submitters abetalipoproteinemia
- c.1770-47A>T Multiple submitters
- c.1989+27T>C Multiple submitters
- c.1990-157C>T Multiple submitters
- c.1990-29G>A Multiple submitters
- c.2218-32T>G Multiple submitters
- c.2343-51A>T Multiple submitters
- c.250-90T>C Multiple submitters
- c.2513+94A>G Multiple submitters
- c.2514-89A>G Multiple submitters
- c.394-32T>C Multiple submitters
- c.502-254C>T Multiple submitters
- c.502-42C>T Multiple submitters
- c.62-240G>T Multiple submitters
- c.759-116A>G Multiple submitters
- c.*1046C>G Multiple submitters abetalipoproteinemia
- c.*183C>T Multiple submitters abetalipoproteinemia
- c.*506A>G Multiple submitters abetalipoproteinemia
- c.*862C>A Multiple submitters abetalipoproteinemia
- p.Ala323= Multiple submitters abetalipoproteinemia
- p.Gln95His Multiple submitters abetalipoproteinemia
- p.Gly151= Multiple submitters abetalipoproteinemia
- p.Ser13= Multiple submitters abetalipoproteinemia
- c.1068-108del Single submitter
- c.1068-5dup Single submitter
- c.1237-172C>T Single submitter
- c.1237-219_1237-134del Single submitter
- c.1237-225T>G Single submitter
- c.1557+191_1557+196del Single submitter
- c.1557+264C>T Single submitter
- c.1557+47_1557+48dup Single submitter
- c.1557+48del Single submitter
- c.1557+48dup Single submitter
- c.1558-209C>T Single submitter
- c.1770-68del Single submitter
- c.1989+192T>A Single submitter
- c.2217+185A>T Single submitter
- c.2217+257T>G Single submitter
- c.2218-235T>C Single submitter
- c.2218-8del Single submitter
- c.2218-8dup Single submitter
- c.2513+190A>G Single submitter
- c.2513+193del Single submitter
- c.2513+235T>C Single submitter
- c.394-250G>A Single submitter
- c.394-6del Single submitter
- c.501+108G>A Single submitter
- c.61+136_61+137del Single submitter
- c.758+81TG[7] Single submitter
- c.*588A>G Single submitter abetalipoproteinemia
- c.*796C>T Single submitter abetalipoproteinemia
Benign/Likely benign 27
- c.1068-5del Multiple submitters
- c.1557+7T>A Multiple submitters abetalipoproteinemia
- c.2513+13G>A Multiple submitters abetalipoproteinemia
- c.-6G>A Multiple submitters abetalipoproteinemia
- c.*113G>C Multiple submitters abetalipoproteinemia
- c.*267A>C Multiple submitters abetalipoproteinemia
- c.*279C>G Multiple submitters abetalipoproteinemia
- c.*515G>A Multiple submitters abetalipoproteinemia
- p.Ala577= Multiple submitters abetalipoproteinemia
- p.Arg32Gln Multiple submitters abetalipoproteinemia
- p.Arg46Gly Multiple submitters abetalipoproteinemia
- p.Asn166Ser Multiple submitters abetalipoproteinemia
- p.Asp384Ala Multiple submitters abetalipoproteinemia
- p.Cys174= Multiple submitters abetalipoproteinemia
- p.Gln244Glu Multiple submitters abetalipoproteinemia
- p.Glu681= Multiple submitters abetalipoproteinemia
- p.Glu98Asp Multiple submitters abetalipoproteinemia
- p.Gly661Ser Multiple submitters abetalipoproteinemia
- p.His297Gln Multiple submitters abetalipoproteinemia
- p.Ile128Thr Multiple submitters metabolic syndrome X
- p.Lys467= Multiple submitters
- p.Lys879Arg Multiple submitters abetalipoproteinemia
- p.Ser662Thr Multiple submitters Inborn genetic diseases
- p.Ser891= Multiple submitters abetalipoproteinemia
- p.Thr164Ala Multiple submitters Inborn genetic diseases
- p.Tyr220= Multiple submitters abetalipoproteinemia
- p.Val168Ile Multiple submitters abetalipoproteinemia
Likely benign 526
Showing the top 300 by review status; the full set is in the sitemap.
- c.1344+99C>T Multiple submitters
- c.1345-77C>T Multiple submitters
- c.1558-19T>C Multiple submitters
- c.1769+17A>G Multiple submitters
- c.1769+20TC[2] Multiple submitters
- c.1770-16T>C Multiple submitters
- c.1867+19G>A Multiple submitters
- c.1867+36C>T Multiple submitters
- c.1990-17A>G Multiple submitters
- c.1990-97C>A Multiple submitters
- c.2217+19_2217+22del Multiple submitters
- c.2218-14C>T Multiple submitters
- c.249+23A>G Multiple submitters
- c.250-10G>T Multiple submitters
- c.2513+8G>A Multiple submitters
- c.393+10C>T Multiple submitters
- c.393+234G>A Multiple submitters
- c.502-12CTTT[3] Multiple submitters
- c.618+13T>C Multiple submitters
- c.618+7T>C Multiple submitters
- c.758+10T>C Multiple submitters
- c.758+13T>C Multiple submitters
- c.759-5T>C Multiple submitters
- c.909+12C>A Multiple submitters
- c.910-11A>G Multiple submitters
- p.Ala229= Multiple submitters
- p.Ala263= Multiple submitters
- p.Arg32= Multiple submitters
- p.Arg425= Multiple submitters
- p.Asn479= Multiple submitters
- p.Asn62= Multiple submitters
- p.Asn708= Multiple submitters
- p.Asp556= Multiple submitters abetalipoproteinemia
- p.Asp680= Multiple submitters
- p.Asp698= Multiple submitters
- p.Asp736= Multiple submitters
- p.Asp76= Multiple submitters
- p.Gln744= Multiple submitters
- p.Gly658= Multiple submitters
- p.His529= Multiple submitters
- p.His660= Multiple submitters
- p.Leu379= Multiple submitters
- p.Leu411= Multiple submitters abetalipoproteinemia
- p.Leu68= Multiple submitters
- p.Leu686= Multiple submitters
- p.Lys184Asn Multiple submitters abetalipoproteinemia
- p.Lys842= Multiple submitters
- p.Pro72= Multiple submitters
- p.Ser383= Multiple submitters abetalipoproteinemia
- p.Ser54= Multiple submitters
- p.Thr123= Multiple submitters
- p.Thr203= Multiple submitters
- p.Thr470= Multiple submitters
- p.Thr816= Multiple submitters
- p.Tyr631= Multiple submitters abetalipoproteinemia
- c.1067+10C>T Single submitter
- c.1067+14C>T Single submitter
- c.1067+19G>A Single submitter
- c.1067+9C>T Single submitter
- c.1068-10_1068-9insA Single submitter
- c.1068-108dup Single submitter
- c.1068-10T>G Single submitter
- c.1068-12C>T Single submitter
- c.1068-13C>T Single submitter
- c.1068-14G>A Single submitter
- c.1068-16A>T Single submitter
- c.1068-17dup Single submitter
- c.1068-17T>C Single submitter
- c.1068-17T>G Single submitter
- c.1068-19A>T Single submitter
- c.1068-20G>A Single submitter
- c.1068-4A>G Single submitter
- c.1068-4dup Single submitter
- c.1068-5T>C Single submitter
- c.1068-7T>A Single submitter
- c.1068-7T>C Single submitter
- c.1236+10A>T Single submitter
- c.1236+12A>G Single submitter
- c.1236+7C>G Single submitter
- c.1237-11T>C Single submitter
- c.1237-12T>C Single submitter
- c.1237-13G>A Single submitter
- c.1237-24A>G Single submitter
- c.1237-31G>A Single submitter
- c.1237-33T>G Single submitter
- c.1237-44T>C Single submitter
- c.1237-5A>G Single submitter
- c.1237-7T>C Single submitter
- c.1344+16A>G Single submitter
- c.1344+17T>A Single submitter
- c.1344+18C>T Single submitter
- c.1344+20C>T Single submitter
- c.1344+8C>G Single submitter
- c.1344+8C>T Single submitter
- c.1345-10G>A Single submitter
- c.1345-10G>T Single submitter
- c.1345-14A>G Single submitter
- c.1345-15T>C Single submitter
- c.1345-16G>T Single submitter
- c.1345-8T>C Single submitter
- c.1557+11C>A Single submitter
- c.1557+16A>C Single submitter
- c.1557+19T>A Single submitter
- c.1557+8C>A Single submitter
- c.1558-4A>C Single submitter
- c.1558-8A>G Single submitter
- c.1769+10A>G Single submitter
- c.1769+12T>G Single submitter
- c.1769+16C>T Single submitter
- c.1769+8A>G Single submitter
- c.1770-10T>C Single submitter abetalipoproteinemia
- c.1770-20T>A Single submitter
- c.1770-20T>G Single submitter
- c.1770-8T>C Single submitter
- c.1770-9A>G Single submitter
- c.1867+10C>T Single submitter
- c.1867+11C>A Single submitter
- c.1867+11C>G Single submitter
- c.1867+13_1867+19dup Single submitter
- c.1867+16AG[3] Single submitter
- c.1868-10G>A Single submitter
- c.1868-17T>A Single submitter
- c.1868-4T>C Single submitter
- c.1868-5A>G Single submitter
- c.1868-6C>T Single submitter abetalipoproteinemia
- c.1989+12C>G Single submitter
- c.1989+13T>G Single submitter
- c.1989+14C>T Single submitter
- c.1989+16T>C Single submitter
- c.1989+18G>A Single submitter
- c.1989+19A>G Single submitter
- c.1989+19A>T Single submitter
- c.1989+7C>T Single submitter
- c.1989+8A>C Single submitter
- c.1989+8A>G Single submitter
- c.1989+9C>T Single submitter
- c.1990-14T>C Single submitter
- c.1990-16T>C Single submitter
- c.1990-18_1990-17insTTT Single submitter
- c.1990-20A>G Single submitter
- c.1990-20A>T Single submitter
- c.1990-4C>T Single submitter
- c.1990-6A>G Single submitter
- c.2217+11C>T Single submitter
- c.2217+14_2217+20del Single submitter
- c.2217+17G>C Single submitter
- c.2217+7C>A Single submitter
- c.2218-12T>C Single submitter
- c.2218-12T>G Single submitter
- c.2218-17A>C Single submitter
- c.2218-20A>G Single submitter
- c.2218-6T>C Single submitter
- c.2218-9T>C Single submitter
- c.2342+15A>G Single submitter
- c.2342+15del Single submitter
- c.2342+16T>C Single submitter
- c.2342+16T>G Single submitter
- c.2342+17T>G Single submitter
- c.2342+20A>G Single submitter
- c.2342+238A>G Single submitter
- c.2342+9T>C Single submitter
- c.2343-7T>C Single submitter
- c.249+12C>T Single submitter
- c.249+14A>G Single submitter
- c.249+18G>C Single submitter
- c.249+7A>G Single submitter
- c.249+8T>G Single submitter
- c.250-10G>C Single submitter
- c.250-20C>A Single submitter
- c.250-22_250-19del Single submitter
- c.2513+12C>A Single submitter
- c.2513+12C>T Single submitter
- c.2513+19G>A Single submitter
- c.2513+7T>C Single submitter
- c.2513+9C>T Single submitter
- c.2514-17_2514-15del Single submitter
- c.2514-17T>G Single submitter
- c.2514-18G>A Single submitter
- c.2514-6G>A Single submitter
- c.2514-6G>T Single submitter
- c.2514-7T>C Single submitter
- c.393+10C>A Single submitter
- c.393+17A>G Single submitter
- c.393+20C>G Single submitter
- c.393+7_393+9del Single submitter
- c.393+7G>A Single submitter
- c.393+7G>C Single submitter
- c.394-11C>A Single submitter
- c.394-14C>T Single submitter
- c.394-19G>C Single submitter
- c.394-4C>T Single submitter
- c.394-7C>G Single submitter
- c.394-8C>G Single submitter
- c.501+11A>G Single submitter
- c.501+13A>G Single submitter
- c.501+20A>C Single submitter
- c.501+62T>C Single submitter
- c.501+7dup Single submitter
- c.501+9C>A Single submitter
- c.501+9C>G Single submitter
- c.502-11T>C Single submitter
- c.502-17C>A Single submitter
- c.502-19C>T Single submitter
- c.502-20G>T Single submitter
- c.502-7T>C Single submitter
- c.502-8C>G Single submitter
- c.502-9T>C Single submitter
- c.61+11G>A Single submitter
- c.61+20T>C Single submitter
- c.61+8T>C Single submitter
- c.61+9G>T Single submitter
- c.618+10A>T Single submitter
- c.618+11T>C Single submitter
- c.618+12G>A Single submitter
- c.618+17T>C Single submitter
- c.618+19T>C Single submitter
- c.618+20C>G Single submitter
- c.619-12T>G Single submitter
- c.619-14A>G Single submitter
- c.619-16C>A Single submitter
- c.619-16C>T Single submitter
- c.619-17G>C Single submitter
- c.619-17G>T Single submitter
- c.619-20A>G Single submitter
- c.619-21G>T Single submitter
- c.62-13T>C Single submitter
- c.62-16_62-9dup Single submitter
- c.62-18G>A Single submitter
- c.758+12C>T Single submitter
- c.758+15A>C Single submitter
- c.758+16_758+17del Single submitter
- c.758+16A>C Single submitter
- c.758+18T>G Single submitter
- c.758+201A>T Single submitter
- c.759-11G>A Single submitter
- c.759-13del Single submitter
- c.759-16C>G Single submitter
- c.759-16C>T Single submitter
- c.759-18C>T Single submitter
- c.759-19T>G Single submitter
- c.759-4G>A Single submitter
- c.759-7T>A Single submitter
- c.759-8T>C Single submitter
- c.909+12C>T Single submitter
- c.909+14A>G Single submitter
- c.909+19G>T Single submitter
- c.909+20G>A Single submitter
- c.909+7G>A Single submitter
- c.909+7G>T Single submitter
- c.910-12dup Single submitter
- c.910-13G>A Single submitter
- c.910-14T>C Single submitter
- c.*468A>C Single submitter abetalipoproteinemia
- c.*694A>C Single submitter abetalipoproteinemia
- p.Ala118= Single submitter
- p.Ala142= Single submitter
- p.Ala180= Single submitter
- p.Ala190= Single submitter
- p.Ala197= Single submitter
- p.Ala286= Single submitter
- p.Ala325= Single submitter
- p.Ala339= Single submitter
- p.Ala366= Single submitter
- p.Ala410= Single submitter
- p.Ala464= Single submitter
- p.Ala480= Single submitter
- p.Ala493= Single submitter
- p.Ala507= Single submitter
- p.Ala602= Single submitter
- p.Ala694= Single submitter
- p.Ala720= Single submitter
- p.Ala758= Single submitter
- p.Ala799= Single submitter
- p.Arg150= Single submitter
- p.Arg309= Single submitter
- p.Arg392= Single submitter
- p.Arg437= Single submitter
- p.Arg532= Single submitter
- p.Arg58= Single submitter
- p.Arg595= Single submitter
- p.Arg607= Single submitter
- p.Arg610= Single submitter
- p.Arg623= Single submitter
- p.Arg644= Single submitter
- p.Arg777= Single submitter
- p.Arg846= Single submitter
- p.Arg858= Single submitter
- p.Arg96= Single submitter
- p.Asn147= Single submitter
- p.Asn237= Single submitter
- p.Asn404= Single submitter
- p.Asn442= Single submitter abetalipoproteinemia
- p.Asn549= Single submitter
- p.Asn550= Single submitter
- p.Asn551= Single submitter
- p.Asn559= Single submitter
- p.Asn604= Single submitter
- p.Asn649= Single submitter
- p.Asn685= Single submitter
- p.Asn780= Single submitter abetalipoproteinemia
Uncertain significance 386
Showing the top 300 by review status; the full set is in the sitemap.
- c.1769+3A>G Multiple submitters abetalipoproteinemia
- c.2342+4A>G Multiple submitters
- c.-82C>T Multiple submitters abetalipoproteinemia
- c.-84T>C Multiple submitters abetalipoproteinemia
- p.Ala144Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala214Ser Multiple submitters ⚠
- p.Ala229Gly Multiple submitters ⚠
- p.Ala232Val Multiple submitters abetalipoproteinemia ⚠
- p.Ala339Glu Multiple submitters
- p.Ala339Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala464Glu Multiple submitters abetalipoproteinemia ⚠
- p.Ala464Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala493Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala577Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala676Thr Multiple submitters ⚠
- p.Ala883Asp Multiple submitters Inborn genetic diseases ⚠
- p.Arg312Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg46Trp Multiple submitters ⚠
- p.Arg58His Multiple submitters Inborn genetic diseases ⚠
- p.Arg594Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg595Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg626Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg772His Multiple submitters Inborn genetic diseases ⚠
- p.Arg777Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg777Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg838Lys Multiple submitters abetalipoproteinemia ⚠
- p.Asn30Tyr Multiple submitters Inborn genetic diseases
- p.Asn442Ser Multiple submitters abetalipoproteinemia ⚠
- p.Asn550Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp31Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp370Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp53Glu Multiple submitters abetalipoproteinemia ⚠
- p.Asp556Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp723Asn Multiple submitters abetalipoproteinemia ⚠
- p.Asp793Ala Multiple submitters abetalipoproteinemia ⚠
- p.Cys301Arg Multiple submitters Inborn genetic diseases
- p.Cys878Trp Multiple submitters ⚠
- p.Gln839Leu Multiple submitters Inborn genetic diseases ⚠
- p.Glu141Gln Multiple submitters
- p.Glu223Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu462Val Multiple submitters abetalipoproteinemia ⚠
- p.Glu566Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu681Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu681Lys Multiple submitters abetalipoproteinemia ⚠
- p.Gly151Ser Multiple submitters abetalipoproteinemia ⚠
- p.Gly25Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly264Asp Multiple submitters abetalipoproteinemia ⚠
- p.Gly417Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly420Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly444Asp Multiple submitters
- p.Gly682Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly722Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly892Arg Multiple submitters abetalipoproteinemia ⚠
- p.His22Tyr Multiple submitters abetalipoproteinemia ⚠
- p.Ile12Val Multiple submitters abetalipoproteinemia ⚠
- p.Ile228Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile546Val Multiple submitters abetalipoproteinemia ⚠
- p.Ile621Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile732Thr Multiple submitters abetalipoproteinemia ⚠
- p.Leu44Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys278Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys463Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys522Glu Multiple submitters abetalipoproteinemia ⚠
- p.Met268Thr Multiple submitters abetalipoproteinemia ⚠
- p.Met575Thr Multiple submitters Inborn genetic diseases
- p.Met692Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe819Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro288His Multiple submitters abetalipoproteinemia ⚠
- p.Pro568Leu Multiple submitters Inborn genetic diseases
- p.Ser252Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser715Cys Multiple submitters abetalipoproteinemia ⚠
- p.Thr123Met Multiple submitters abetalipoproteinemia ⚠
- p.Thr235Lys Multiple submitters Inborn genetic diseases ⚠
- p.Thr285Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr37Met Multiple submitters abetalipoproteinemia ⚠
- p.Thr434Ile Multiple submitters abetalipoproteinemia ⚠
- p.Thr630Ala Multiple submitters abetalipoproteinemia ⚠
- p.Tyr15His Multiple submitters Inborn genetic diseases ⚠
- p.Val293Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val363Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val862Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val89Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val89Ile Multiple submitters ⚠
- c.1237-4A>G Single submitter
- c.1344+267A>G Single submitter abetalipoproteinemia
- c.1868-16_1868-11del Single submitter
- c.1868-3C>T Single submitter
- c.1990-3C>T Single submitter
- c.2217+2369T>A Single submitter
- c.249+19A>G Single submitter
- c.2514-3C>A Single submitter
- c.501+3A>T Single submitter
- c.501+6T>C Single submitter
- c.618+4T>C Single submitter
- c.62-5T>A Single submitter
- c.758+5G>A Single submitter
- c.910-6T>C Single submitter
- c.-20G>A Single submitter abetalipoproteinemia
- c.-28T>C Single submitter abetalipoproteinemia
- c.-54C>T Single submitter abetalipoproteinemia
- c.*1003T>C Single submitter abetalipoproteinemia
- c.*1018G>A Single submitter abetalipoproteinemia
- c.*1044G>T Single submitter abetalipoproteinemia
- c.*1118C>T Single submitter abetalipoproteinemia
- c.*184G>A Single submitter abetalipoproteinemia
- c.*19T>A Single submitter
- c.*219G>A Single submitter abetalipoproteinemia
- c.*382T>C Single submitter abetalipoproteinemia
- c.*38G>A Single submitter abetalipoproteinemia
- c.*41A>G Single submitter abetalipoproteinemia
- c.*434G>A Single submitter abetalipoproteinemia
- c.*436A>G Single submitter abetalipoproteinemia
- c.*474T>C Single submitter abetalipoproteinemia
- c.*517A>T Single submitter abetalipoproteinemia
- c.*55G>C Single submitter abetalipoproteinemia
- c.*668A>G Single submitter abetalipoproteinemia
- c.*826T>C Single submitter abetalipoproteinemia
- c.*82G>A Single submitter abetalipoproteinemia
- c.*989T>C Single submitter abetalipoproteinemia
- c.*98T>A Single submitter abetalipoproteinemia
- p.Ala197Val Single submitter ⚠
- p.Ala263Thr Single submitter ⚠
- p.Ala274Pro Single submitter ⚠
- p.Ala274Thr Single submitter ⚠
- p.Ala323Thr Single submitter ⚠
- p.Ala331Gly Single submitter ⚠
- p.Ala410Asp Single submitter ⚠
- p.Ala493Leu Single submitter
- p.Ala589Thr Single submitter ⚠
- p.Ala5Pro Single submitter Inborn genetic diseases ⚠
- p.Ala602Thr Single submitter ⚠
- p.Ala628Ser Single submitter ⚠
- p.Ala657Thr Single submitter ⚠
- p.Ala66Thr Single submitter ⚠
- p.Ala764Ser Single submitter ⚠
- p.Ala835Asp Single submitter Inborn genetic diseases ⚠
- p.Ala864Pro Single submitter Inborn genetic diseases ⚠
- p.Ala883Thr Single submitter ⚠
- p.Ala883Val Single submitter ⚠
- p.Arg150Lys Single submitter ⚠
- p.Arg32Trp Single submitter ⚠
- p.Arg392Gly Single submitter ⚠
- p.Arg409Ile Single submitter
- p.Arg46Gln Single submitter ⚠
- p.Arg46Pro Single submitter ⚠
- p.Arg510Lys Single submitter ⚠
- p.Arg532His Single submitter ⚠
- p.Arg532Leu Single submitter Inborn genetic diseases ⚠
- p.Arg584Cys Single submitter ⚠
- p.Arg584His Single submitter ⚠
- p.Arg58Cys Single submitter ⚠
- p.Arg594His Single submitter Inborn genetic diseases ⚠
- p.Arg595Pro Single submitter
- p.Arg623Cys Single submitter ⚠
- p.Arg626His Single submitter ⚠
- p.Arg644Lys Single submitter ⚠
- p.Arg772Cys Single submitter ⚠
- p.Arg781Ser Single submitter ⚠
- p.Arg851Thr Single submitter ⚠
- p.Asn319Lys Single submitter ⚠
- p.Asn525Lys Single submitter ⚠
- p.Asn551Ile Single submitter abetalipoproteinemia ⚠
- p.Asn62Thr Single submitter ⚠
- p.Asn649Ser Single submitter ⚠
- p.Asn874Asp Single submitter abetalipoproteinemia ⚠
- p.Asp192Gly Single submitter Inborn genetic diseases ⚠
- p.Asp380Val Single submitter abetalipoproteinemia ⚠
- p.Asp384Asn Single submitter ⚠
- p.Asp723Tyr Single submitter
- p.Asp793Gly Single submitter abetalipoproteinemia ⚠
- p.Asp793Val Single submitter ⚠
- p.Asp887Glu Single submitter ⚠
- p.Cys194Arg Single submitter ⚠
- p.Gln157Arg Single submitter ⚠
- p.Gln179Arg Single submitter abetalipoproteinemia ⚠
- p.Gln244Pro Single submitter ⚠
- p.Gln316Leu Single submitter ⚠
- p.Gln441Lys Single submitter ⚠
- p.Gln569Pro Single submitter ⚠
- p.Gln580Pro Single submitter
- p.Gln663Arg Single submitter
- p.Gln663His Single submitter ⚠
- p.Gln669Arg Single submitter abetalipoproteinemia ⚠
- p.Gln744Glu Single submitter ⚠
- p.Glu114Gly Single submitter abetalipoproteinemia ⚠
- p.Glu234Asp Single submitter ⚠
- p.Glu306Lys Single submitter abetalipoproteinemia ⚠
- p.Glu306Val Single submitter Inborn genetic diseases ⚠
- p.Glu566Gly Single submitter ⚠
- p.Glu766Asp Single submitter Inborn genetic diseases ⚠
- p.Glu766Gly Single submitter
- p.Glu806Gln Single submitter ⚠
- p.Glu845Lys Single submitter
- p.Glu860del Single submitter
- p.Glu873Asp Single submitter ⚠
- p.Gly151Val Single submitter abetalipoproteinemia ⚠
- p.Gly172Ala Single submitter Inborn genetic diseases ⚠
- p.Gly172Arg Single submitter Inborn genetic diseases ⚠
- p.Gly209Ser Single submitter ⚠
- p.Gly25Ser Single submitter
- p.Gly417Asp Single submitter ⚠
- p.Gly433Arg Single submitter Inborn genetic diseases ⚠
- p.Gly56Asp Single submitter ⚠
- p.Gly612Arg Single submitter abetalipoproteinemia ⚠
- p.Gly655Val Single submitter ⚠
- p.Gly661Asp Single submitter ⚠
- p.Gly682= Single submitter
- p.Gly691Ser Single submitter Inborn genetic diseases ⚠
- p.Gly709Arg Single submitter ⚠
- p.Gly74Asp Single submitter Inborn genetic diseases ⚠
- p.Gly755Ala Single submitter ⚠
- p.Gly97Glu Single submitter ⚠
- p.His126Arg Single submitter ⚠
- p.His181Gln Single submitter abetalipoproteinemia ⚠
- p.His402Tyr Single submitter ⚠
- p.His871Tyr Single submitter
- p.Ile110Thr Single submitter ⚠
- p.Ile186Met Single submitter abetalipoproteinemia ⚠
- p.Ile188Thr Single submitter ⚠
- p.Ile222Val Single submitter ⚠
- p.Ile246Phe Single submitter ⚠
- p.Ile276Val Single submitter abetalipoproteinemia ⚠
- p.Ile287Thr Single submitter Inborn genetic diseases ⚠
- p.Ile289Thr Single submitter ⚠
- p.Ile344Asn Single submitter ⚠
- p.Ile375Leu Single submitter ⚠
- p.Ile387Val Single submitter ⚠
- p.Ile419Val Single submitter ⚠
- p.Ile430Phe Single submitter
- p.Ile547Thr Single submitter ⚠
- p.Ile582Leu Single submitter Inborn genetic diseases ⚠
- p.Ile621Thr Single submitter ⚠
- p.Ile666Thr Single submitter ⚠
- p.Ile732Phe Single submitter Inborn genetic diseases ⚠
- p.Ile759Val Single submitter ⚠
- p.Ile786Thr Single submitter ⚠
- p.Ile790Thr Single submitter ⚠
- p.Ile790Val Single submitter ⚠
- p.Ile814Phe Single submitter Inborn genetic diseases ⚠
- p.Leu376Ser Single submitter ⚠
- p.Leu379Ser Single submitter abetalipoproteinemia ⚠
- p.Leu407Pro Single submitter ⚠
- p.Leu44del Single submitter
- p.Leu508Phe Single submitter ⚠
- p.Leu643Pro Single submitter ⚠
- p.Leu671Met Single submitter abetalipoproteinemia ⚠
- p.Leu686Phe Single submitter abetalipoproteinemia ⚠
- p.Leu701Ile Single submitter ⚠
- p.Leu713Phe Single submitter Inborn genetic diseases ⚠
- p.Leu731Val Single submitter ⚠
- p.Leu741Phe Single submitter Inborn genetic diseases ⚠
- p.Leu79Trp Single submitter ⚠
- p.Leu79Val Single submitter ⚠
- p.Leu7Arg Single submitter ⚠
- p.Lys189Glu Single submitter ⚠
- p.Lys253= Single submitter abetalipoproteinemia
- p.Lys271Thr Single submitter ⚠
- p.Lys340Arg Single submitter ⚠
- p.Lys349Asn Single submitter abetalipoproteinemia ⚠
- p.Lys349Thr Single submitter ⚠
- p.Lys50Asn Single submitter Inborn genetic diseases ⚠
- p.Lys522del Single submitter
- p.Lys716Thr Single submitter ⚠
- p.Lys775Glu Single submitter
- p.Lys859Asn Single submitter ⚠
- p.Lys99Asn Single submitter ⚠
- p.Met111Thr Single submitter abetalipoproteinemia ⚠
- p.Met429Thr Single submitter abetalipoproteinemia ⚠
- p.Met472Val Single submitter ⚠
- p.Met600Thr Single submitter Inborn genetic diseases ⚠
- p.Met714Ile Single submitter ⚠
- p.Met714Lys Single submitter ⚠
- p.Met714Thr Single submitter ⚠
- p.Met828Val Single submitter ⚠
- p.Met84Leu Single submitter ⚠
- p.Met84Thr Single submitter Inborn genetic diseases ⚠
- p.Met877Val Single submitter abetalipoproteinemia
- p.Phe651Leu Single submitter abetalipoproteinemia ⚠
- p.Phe824Leu Single submitter ⚠
- p.Pro302Leu Single submitter Inborn genetic diseases ⚠
- p.Pro403Ser Single submitter ⚠
- p.Pro514Ser Single submitter abetalipoproteinemia ⚠
- p.Pro552Ala Single submitter ⚠
- p.Pro552Leu Single submitter
- p.Pro679His Single submitter ⚠
- p.Pro869Gln Single submitter
- p.Pro869Leu Single submitter ⚠
- p.Pro884Ser Single submitter ⚠
- p.Ser106Thr Single submitter Inborn genetic diseases ⚠
- p.Ser18Thr Single submitter abetalipoproteinemia ⚠
- p.Ser212Thr Single submitter ⚠
- p.Ser216Phe Single submitter ⚠
- p.Ser216Pro Single submitter ⚠
- p.Ser303Pro Single submitter ⚠
- p.Ser386Asn Single submitter ⚠
- p.Ser590Asn Single submitter ⚠
- p.Ser638Leu Single submitter ⚠
- p.Ser646Asn Single submitter ⚠
- p.Ser719Leu Single submitter ⚠
- p.Ser719Pro Single submitter ⚠