DTHD1 — 559 ClinVar variants
All ClinVar germline DTHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 316 flagged for review →
13 Conflicting · 8 Benign · 18 Benign/Likely benign · 142 Likely benign · 378 Uncertain significance
Full DTHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 316
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- DTHD1 p.Ala648Val Conflicting Single submitter
- DTHD1 p.Arg829His Conflicting Single submitter
- DTHD1 p.Arg829Ser Conflicting Single submitter
- DTHD1 p.Arg874Ser Conflicting Single submitter
- DTHD1 p.Asp843Tyr Conflicting Single submitter
- DTHD1 p.Gly203Val Conflicting Single submitter
- DTHD1 p.Thr142Ser Conflicting Single submitter
Predictors lean, ClinVar uncertain 270
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 270
- DTHD1 p.Ala552Ser Uncertain significance Multiple submitters
- DTHD1 p.Ala811Asp Uncertain significance Multiple submitters
- DTHD1 p.Arg326Gln Uncertain significance Multiple submitters
- DTHD1 p.Arg371Cys Uncertain significance Multiple submitters
- DTHD1 p.Arg447Gln Uncertain significance Multiple submitters
- DTHD1 p.Arg548Trp Uncertain significance Multiple submitters
- DTHD1 p.Arg787Cys Uncertain significance Multiple submitters
- DTHD1 p.Arg830Cys Uncertain significance Multiple submitters
- DTHD1 p.Arg830Gly Uncertain significance Multiple submitters
- DTHD1 p.Arg874Cys Uncertain significance Multiple submitters
- DTHD1 p.Asn339Asp Uncertain significance Multiple submitters
- DTHD1 p.Asn523Lys Uncertain significance Multiple submitters
- DTHD1 p.Asn840Ser Uncertain significance Multiple submitters
- DTHD1 p.Asp338Tyr Uncertain significance Multiple submitters
- DTHD1 p.Asp483Val Uncertain significance Multiple submitters
- DTHD1 p.Asp656Glu Uncertain significance Multiple submitters
- DTHD1 p.Gln680His Uncertain significance Multiple submitters
- DTHD1 p.Gln686Glu Uncertain significance Multiple submitters
- DTHD1 p.Gln834Glu Uncertain significance Multiple submitters
- DTHD1 p.Glu350Ala Uncertain significance Multiple submitters
- DTHD1 p.Glu850Lys Uncertain significance Multiple submitters
- DTHD1 p.Glu884Gln Uncertain significance Multiple submitters
- DTHD1 p.Glu890Lys Uncertain significance Multiple submitters
- DTHD1 p.Gly437Ala Uncertain significance Multiple submitters
- DTHD1 p.Gly437Val Uncertain significance Multiple submitters
- DTHD1 p.Gly671Arg Uncertain significance Multiple submitters
- DTHD1 p.Gly705Arg Uncertain significance Multiple submitters
- DTHD1 p.Gly740Arg Uncertain significance Multiple submitters
- DTHD1 p.Gly740Cys Uncertain significance Multiple submitters
- DTHD1 p.His872Tyr Uncertain significance Multiple submitters
- DTHD1 p.Ile328Thr Uncertain significance Multiple submitters
- DTHD1 p.Ile762Thr Uncertain significance Multiple submitters
- DTHD1 p.Leu298Pro Uncertain significance Multiple submitters
- DTHD1 p.Leu393Val Uncertain significance Multiple submitters
- DTHD1 p.Leu606Pro Uncertain significance Multiple submitters
- DTHD1 p.Leu710Phe Uncertain significance Multiple submitters
-
DTHD1 p.Lys436Glu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DTHD1 p.Met380Thr Uncertain significance Multiple submitters
- DTHD1 p.Phe894Tyr Uncertain significance Multiple submitters
- DTHD1 p.Pro517Ala Uncertain significance Multiple submitters
- DTHD1 p.Pro653Ala Uncertain significance Multiple submitters
- DTHD1 p.Pro673Leu Uncertain significance Multiple submitters
- DTHD1 p.Ser449Tyr Uncertain significance Multiple submitters
- DTHD1 p.Ser501Pro Uncertain significance Multiple submitters
- DTHD1 p.Ser526Tyr Uncertain significance Multiple submitters
- DTHD1 p.Ser676Cys Uncertain significance Multiple submitters
- DTHD1 p.Ser790Asn Uncertain significance Multiple submitters
- DTHD1 p.Thr408Asn Uncertain significance Multiple submitters
- DTHD1 p.Thr458Pro Uncertain significance Multiple submitters
- DTHD1 p.Thr542Ala Uncertain significance Multiple submitters
- DTHD1 p.Thr542Lys Uncertain significance Multiple submitters
- DTHD1 p.Thr825Ala Uncertain significance Multiple submitters
- DTHD1 p.Thr832Ser Uncertain significance Multiple submitters
- DTHD1 p.Thr861Ile Uncertain significance Multiple submitters
- DTHD1 p.Thr895Pro Uncertain significance Multiple submitters
- DTHD1 p.Trp855Arg Uncertain significance Multiple submitters
- DTHD1 p.Tyr318His Uncertain significance Multiple submitters
- DTHD1 p.Val319Leu Uncertain significance Multiple submitters
- DTHD1 p.Val336Ala Uncertain significance Multiple submitters
- DTHD1 p.Val383Leu Uncertain significance Multiple submitters
- DTHD1 p.Val412Leu Uncertain significance Multiple submitters
- DTHD1 p.Val583Ile Uncertain significance Multiple submitters
- DTHD1 p.Val649Leu Uncertain significance Multiple submitters
- DTHD1 p.Val743Ile Uncertain significance Multiple submitters
- DTHD1 p.Val747Ala Uncertain significance Multiple submitters
- DTHD1 p.Val799Ala Uncertain significance Multiple submitters
- DTHD1 p.Ala365Glu Uncertain significance Single submitter
- DTHD1 p.Ala439Thr Uncertain significance Single submitter
- DTHD1 p.Ala536Asp Uncertain significance Single submitter
- DTHD1 p.Ala561Gly Uncertain significance Single submitter
- DTHD1 p.Ala561Thr Uncertain significance Single submitter
- DTHD1 p.Ala627Val Uncertain significance Single submitter
- DTHD1 p.Ala811Ser Uncertain significance Single submitter
- DTHD1 p.Ala819Thr Uncertain significance Single submitter
- DTHD1 p.Ala870Thr Uncertain significance Single submitter
- DTHD1 p.Ala904Asp Uncertain significance Single submitter
- DTHD1 p.Ala904Thr Uncertain significance Single submitter
- DTHD1 p.Arg326Trp Uncertain significance Single submitter
- DTHD1 p.Arg373Gly Uncertain significance Single submitter
- DTHD1 p.Arg373Ile Uncertain significance Single submitter
- DTHD1 p.Arg533Lys Uncertain significance Single submitter
- DTHD1 p.Arg548Gln Uncertain significance Single submitter
- DTHD1 p.Arg548Gly Uncertain significance Single submitter
- DTHD1 p.Arg602Lys Uncertain significance Single submitter
- DTHD1 p.Arg677His Uncertain significance Single submitter
- DTHD1 p.Arg719Lys Uncertain significance Single submitter
- DTHD1 p.Arg830His Uncertain significance Single submitter
- DTHD1 p.Arg830Pro Uncertain significance Single submitter
- DTHD1 p.Arg867Cys Uncertain significance Single submitter
- DTHD1 p.Arg871Gln Uncertain significance Single submitter
- DTHD1 p.Asn154His Uncertain significance Single submitter
- DTHD1 p.Asn281Lys Uncertain significance Single submitter
- DTHD1 p.Asn451His Uncertain significance Single submitter
- DTHD1 p.Asn522Asp Uncertain significance Single submitter
- DTHD1 p.Asn522His Uncertain significance Single submitter
- DTHD1 p.Asn539Ser Uncertain significance Single submitter
- DTHD1 p.Asn560Ser Uncertain significance Single submitter
- DTHD1 p.Asn643Ile Uncertain significance Single submitter
- DTHD1 p.Asn700Asp Uncertain significance Single submitter
- DTHD1 p.Asn765Ser Uncertain significance Single submitter
- DTHD1 p.Asn805Ser Uncertain significance Single submitter
- DTHD1 p.Asp385Ala Uncertain significance Single submitter
- DTHD1 p.Asp385Gly Uncertain significance Single submitter
- DTHD1 p.Asp471Glu Uncertain significance Single submitter
- DTHD1 p.Asp483Asn Uncertain significance Single submitter
- DTHD1 p.Asp529Ala Uncertain significance Single submitter
- DTHD1 p.Asp574His Uncertain significance Single submitter
- DTHD1 p.Asp582Asn Uncertain significance Single submitter
- DTHD1 p.Asp613Asn Uncertain significance Single submitter
- DTHD1 p.Asp613His Uncertain significance Single submitter
- DTHD1 p.Asp656Ala Uncertain significance Single submitter
- DTHD1 p.Asp703Gly Uncertain significance Single submitter
- DTHD1 p.Asp707Ala Uncertain significance Single submitter
- DTHD1 p.Asp707Asn Uncertain significance Single submitter
- DTHD1 p.Asp707His Uncertain significance Single submitter
- DTHD1 p.Asp707Tyr Uncertain significance Single submitter
- DTHD1 p.Asp804Asn Uncertain significance Single submitter
- DTHD1 p.Asp842His Uncertain significance Single submitter
- DTHD1 p.Asp864Asn Uncertain significance Single submitter
- DTHD1 p.Asp902Gly Uncertain significance Single submitter
- DTHD1 p.Cys130Arg Uncertain significance Single submitter
- DTHD1 p.Cys351Ser Uncertain significance Single submitter
- DTHD1 p.Cys425Gly Uncertain significance Single submitter
- DTHD1 p.Cys853Arg Uncertain significance Single submitter
- DTHD1 p.Gln174Lys Uncertain significance Single submitter
- DTHD1 p.Gln321Arg Uncertain significance Single submitter
- DTHD1 p.Gln481Arg Uncertain significance Single submitter
- DTHD1 p.Gln686Lys Uncertain significance Single submitter
- DTHD1 p.Gln723Arg Uncertain significance Single submitter
- DTHD1 p.Gln834Arg Uncertain significance Single submitter
- DTHD1 p.Glu206Asp Uncertain significance Single submitter
- DTHD1 p.Glu324Asp Uncertain significance Single submitter
- DTHD1 p.Glu340Gly Uncertain significance Single submitter
- DTHD1 p.Glu729Lys Uncertain significance Single submitter
- DTHD1 p.Glu816Lys Uncertain significance Single submitter
- DTHD1 p.Glu817Lys Uncertain significance Single submitter
- DTHD1 p.Glu883Gln Uncertain significance Single submitter
- DTHD1 p.Glu884Lys Uncertain significance Single submitter
- DTHD1 p.Gly306Asp Uncertain significance Single submitter
- DTHD1 p.Gly337Arg Uncertain significance Single submitter
- DTHD1 p.Gly337Asp Uncertain significance Single submitter
- DTHD1 p.Gly337Ser Uncertain significance Single submitter
- DTHD1 p.Gly400Val Uncertain significance Single submitter
- DTHD1 p.Gly403Arg Uncertain significance Single submitter
- DTHD1 p.Gly407Glu Uncertain significance Single submitter
- DTHD1 p.Gly418Arg Uncertain significance Single submitter
- DTHD1 p.Gly525Val Uncertain significance Single submitter
- DTHD1 p.Gly590Asp Uncertain significance Single submitter
- DTHD1 p.Gly740Val Uncertain significance Single submitter
- DTHD1 p.Gly750Arg Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- DTHD1 p.Asn840Asp Uncertain significance Multiple submitters
- DTHD1 p.Asp471Gly Uncertain significance Multiple submitters
- DTHD1 p.Ile848Phe Uncertain significance Multiple submitters
- DTHD1 p.Leu511Trp Uncertain significance Multiple submitters
- DTHD1 p.Phe360Leu Uncertain significance Multiple submitters
- DTHD1 p.Pro508Ser Uncertain significance Multiple submitters
- DTHD1 p.Ser490Tyr Uncertain significance Multiple submitters
- DTHD1 p.Ser734Ile Uncertain significance Multiple submitters
- DTHD1 p.Val309Gly Benign/Likely benign Multiple submitters
- DTHD1 p.Ala410Thr Uncertain significance Single submitter
- DTHD1 p.Asn345Lys Uncertain significance Single submitter
- DTHD1 p.Asp353Gly Uncertain significance Single submitter
- DTHD1 p.Asp582Tyr Uncertain significance Single submitter
- DTHD1 p.Asp663Tyr Uncertain significance Single submitter
- DTHD1 p.Asp797Tyr Uncertain significance Single submitter
- DTHD1 p.Asp864His Uncertain significance Single submitter
- DTHD1 p.Cys515Tyr Uncertain significance Single submitter
- DTHD1 p.Cys772Phe Uncertain significance Single submitter
- DTHD1 p.Gln847Glu Uncertain significance Single submitter
- DTHD1 p.Glu429Asp Uncertain significance Single submitter
- DTHD1 p.Glu429Gln Uncertain significance Single submitter
- DTHD1 p.Gly418Cys Uncertain significance Single submitter
- DTHD1 p.Gly668Val Uncertain significance Single submitter
- DTHD1 p.His499Arg Uncertain significance Single submitter
- DTHD1 p.Ile327Lys Uncertain significance Single submitter
- DTHD1 p.Ile349Thr Uncertain significance Single submitter
- DTHD1 p.Ile362Thr Uncertain significance Single submitter
- DTHD1 p.Ile742Phe Uncertain significance Single submitter
- DTHD1 p.Leu567Ser Uncertain significance Single submitter
- DTHD1 p.Leu828Pro Uncertain significance Single submitter
- DTHD1 p.Lys865Glu Uncertain significance Single submitter
- DTHD1 p.Phe485Ser Conflicting Single submitter
- DTHD1 p.Phe505Leu Uncertain significance Single submitter
- DTHD1 p.Pro841Ala Uncertain significance Single submitter
- DTHD1 p.Thr491Arg Uncertain significance Single submitter
- DTHD1 p.Tyr392Ser Uncertain significance Single submitter
- DTHD1 p.Val346Phe Uncertain significance Single submitter
- DTHD1 p.Val381Leu Uncertain significance Single submitter
- DTHD1 p.Val414Asp Uncertain significance Single submitter
All DTHD1 variants
Conflicting classifications of pathogenicity 13
- c.1218+1G>T Single submitter
- c.1219-17T>C Single submitter
- c.1219-3C>T Single submitter
- c.1398+19G>A Single submitter
- p.Ala648Val Single submitter ⚠
- p.Arg829His Single submitter ⚠
- p.Arg829Ser Single submitter ⚠
- p.Arg874Ser Single submitter ⚠
- p.Asp843Tyr Single submitter ⚠
- p.Gly203Val Single submitter ⚠
- p.Phe485Ser Single submitter ⚠
- p.Thr142Ser Single submitter ⚠
- p.Trp803Ter Single submitter
Benign 8
- c.1219-18G>T Multiple submitters
- p.Arg677Cys Multiple submitters
- p.Arg682Gln Multiple submitters
- p.Arg874His Multiple submitters
- p.Glu884= Multiple submitters
- p.Tyr733His Multiple submitters
- c.271+18del Single submitter
- p.Val201= Single submitter
Benign/Likely benign 18
- c.1218+16G>C Multiple submitters
- c.2095+18T>G Multiple submitters
- c.2341-18G>A Multiple submitters
- c.271+18dup Multiple submitters
- p.Arg371His Multiple submitters
- p.Arg787His Multiple submitters
- p.Arg793= Multiple submitters
- p.Arg829Cys Multiple submitters
- p.Asp642= Multiple submitters
- p.Leu301Gln Multiple submitters
- p.Lys402Asn Multiple submitters
- p.Met612Thr Multiple submitters
- p.Pro788Thr Multiple submitters
- p.Ser734= Multiple submitters
- p.Ser879fs Multiple submitters
- p.Val304Asp Multiple submitters
- p.Val309Gly Multiple submitters ⚠
- p.Val652= Multiple submitters
Likely benign 142
- c.1219-15C>T Multiple submitters
- c.1398+8T>C Multiple submitters
- c.1398+9A>G Multiple submitters
- c.1399-14T>C Multiple submitters
- c.1399-6G>C Multiple submitters
- c.1644-8T>C Multiple submitters
- c.1805+10T>A Multiple submitters
- c.2095+14A>G Multiple submitters
- p.Asn539= Multiple submitters
- p.Asn694= Multiple submitters
- p.Asp483= Multiple submitters
- p.Asp728= Multiple submitters
- p.Cys325= Multiple submitters
- p.Glu896Lys Multiple submitters
- p.Gly590Ser Multiple submitters
- p.His530= Multiple submitters
- p.His808= Multiple submitters
- p.Ile349= Multiple submitters
- p.Leu393= Multiple submitters
- p.Leu438= Multiple submitters
- p.Lys559= Multiple submitters
- p.Lys783= Multiple submitters
- p.Phe894= Multiple submitters
- p.Ser317= Multiple submitters
- p.Ser430= Multiple submitters
- p.Ser589= Multiple submitters
- p.Ser88Leu Multiple submitters
- p.Tyr452= Multiple submitters
- c.1218+12C>A Single submitter
- c.1218+18T>C Single submitter
- c.1219-11A>C Single submitter
- c.1219-15C>A Single submitter
- c.1219-20A>G Single submitter
- c.1219-5T>C Single submitter
- c.1219-6A>G Single submitter
- c.1399-12T>A Single submitter
- c.1399-14T>A Single submitter
- c.1399-18A>C Single submitter
- c.1643+14T>G Single submitter
- c.1643+20T>A Single submitter
- c.1644-15G>A Single submitter
- c.1644-16T>C Single submitter
- c.1805+10T>C Single submitter
- c.1805+20T>A Single submitter
- c.1805+8del Single submitter
- c.2095+12G>T Single submitter
- c.2095+9A>G Single submitter
- c.2096-17A>G Single submitter
- c.2096-8C>T Single submitter
- c.2340+14C>T Single submitter
- c.2340+18_2340+24del Single submitter
- c.2340+20T>G Single submitter
- c.2340+7T>C Single submitter
- c.2341-14C>T Single submitter
- c.2341-14del Single submitter
- c.2341-6C>A Single submitter
- c.2399-12T>C Single submitter
- c.2399-14C>T Single submitter
- c.2399-18T>G Single submitter
- c.2399-20G>A Single submitter
- c.271+18T>C Single submitter
- c.271+20G>C Single submitter
- c.271+20G>T Single submitter
- c.887+14A>G Single submitter
- c.888-16C>A Single submitter
- c.888-19A>C Single submitter
- c.888-4C>T Single submitter
- c.888-8C>T Single submitter
- p.Ala801= Single submitter
- p.Ala882= Single submitter
- p.Arg200Cys Single submitter
- p.Arg326= Single submitter
- p.Arg646= Single submitter
- p.Asn215= Single submitter
- p.Asn345= Single submitter
- p.Asn387= Single submitter
- p.Asp385= Single submitter
- p.Asp581= Single submitter
- p.Asp663= Single submitter
- p.Cys311= Single submitter
- p.Cys735= Single submitter
- p.Gln208= Single submitter
- p.Gln464= Single submitter
- p.Gln482= Single submitter
- p.Glu167= Single submitter
- p.Glu4Lys Single submitter
- p.Glu527= Single submitter
- p.Glu813= Single submitter
- p.Glu83= Single submitter
- p.Glu846= Single submitter
- p.Glu906= Single submitter
- p.Gly241= Single submitter
- p.Gly407= Single submitter
- p.His607= Single submitter
- p.His849= Single submitter
- p.Ile286Val Single submitter
- p.Leu301= Single submitter
- p.Leu440= Single submitter
- p.Leu450= Single submitter
- p.Leu565= Single submitter
- p.Leu567= Single submitter
- p.Leu608= Single submitter
- p.Leu760= Single submitter
- p.Leu769= Single submitter
- p.Leu778= Single submitter
- p.Leu806= Single submitter
- p.Leu828= Single submitter
- p.Leu835= Single submitter
- p.Leu838= Single submitter
- p.Leu885= Single submitter
- p.Lys354= Single submitter
- p.Lys556= Single submitter
- p.Lys717= Single submitter
- p.Lys857= Single submitter
- p.Phe360= Single submitter
- p.Pro163= Single submitter
- p.Pro359= Single submitter
- p.Pro454= Single submitter
- p.Pro673= Single submitter
- p.Pro798= Single submitter
- p.Ser492= Single submitter
- p.Ser535= Single submitter
- p.Ser544= Single submitter
- p.Ser858= Single submitter
- p.Thr246Ala Single submitter
- p.Thr278= Single submitter
- p.Thr348= Single submitter
- p.Thr484= Single submitter
- p.Thr491= Single submitter
- p.Thr537= Single submitter
- p.Thr709= Single submitter
- p.Thr791= Single submitter
- p.Thr845= Single submitter
- p.Thr863= Single submitter
- p.Tyr392= Single submitter
- p.Tyr518= Single submitter
- p.Val304Ile Single submitter
- p.Val412= Single submitter
- p.Val433= Single submitter
- p.Val475= Single submitter
- p.Val488= Single submitter
- p.Val903= Single submitter
Uncertain significance 378
Showing the top 300 by review status; the full set is in the sitemap.
- c.1218+1G>A Multiple submitters
- c.1219-2A>G Multiple submitters
- p.Ala552Ser Multiple submitters ⚠
- p.Ala811Asp Multiple submitters ⚠
- p.Arg326Gln Multiple submitters ⚠
- p.Arg371Cys Multiple submitters ⚠
- p.Arg447Gln Multiple submitters ⚠
- p.Arg447Ter Multiple submitters
- p.Arg548Trp Multiple submitters ⚠
- p.Arg787Cys Multiple submitters ⚠
- p.Arg830Cys Multiple submitters ⚠
- p.Arg830Gly Multiple submitters ⚠
- p.Arg874Cys Multiple submitters ⚠
- p.Asn339Asp Multiple submitters ⚠
- p.Asn523Lys Multiple submitters ⚠
- p.Asn840Asp Multiple submitters ⚠
- p.Asn840Ser Multiple submitters ⚠
- p.Asp338Tyr Multiple submitters ⚠
- p.Asp471Gly Multiple submitters ⚠
- p.Asp483Val Multiple submitters ⚠
- p.Asp656Glu Multiple submitters ⚠
- p.Cys86Arg Multiple submitters Leber congenital amaurosis
- p.Gln680His Multiple submitters ⚠
- p.Gln686Glu Multiple submitters ⚠
- p.Gln834_Ile836del Multiple submitters
- p.Gln834Glu Multiple submitters ⚠
- p.Glu350Ala Multiple submitters ⚠
- p.Glu850Lys Multiple submitters ⚠
- p.Glu884Gln Multiple submitters ⚠
- p.Glu890Lys Multiple submitters ⚠
- p.Gly437Ala Multiple submitters ⚠
- p.Gly437Val Multiple submitters ⚠
- p.Gly671Arg Multiple submitters ⚠
- p.Gly705Arg Multiple submitters ⚠
- p.Gly740Arg Multiple submitters ⚠
- p.Gly740Cys Multiple submitters ⚠
- p.His872Tyr Multiple submitters ⚠
- p.Ile328Thr Multiple submitters ⚠
- p.Ile762Thr Multiple submitters ⚠
- p.Ile848Phe Multiple submitters ⚠
- p.Leu298Pro Multiple submitters ⚠
- p.Leu342Ter Multiple submitters
- p.Leu393Val Multiple submitters ⚠
- p.Leu511Trp Multiple submitters ⚠
- p.Leu606Pro Multiple submitters ⚠
- p.Leu710Phe Multiple submitters ⚠
- p.Lys436Glu Multiple submitters inherited retinal dystrophy ⚠
- p.Lys857fs Multiple submitters
- p.Met380Thr Multiple submitters ⚠
- p.Phe360Leu Multiple submitters ⚠
- p.Phe894Tyr Multiple submitters ⚠
- p.Pro508Ser Multiple submitters ⚠
- p.Pro517Ala Multiple submitters ⚠
- p.Pro653Ala Multiple submitters ⚠
- p.Pro673Leu Multiple submitters ⚠
- p.Ser449Tyr Multiple submitters ⚠
- p.Ser490Tyr Multiple submitters ⚠
- p.Ser501Pro Multiple submitters ⚠
- p.Ser526Tyr Multiple submitters ⚠
- p.Ser676Cys Multiple submitters ⚠
- p.Ser734Ile Multiple submitters ⚠
- p.Ser790Asn Multiple submitters ⚠
- p.Thr408Asn Multiple submitters ⚠
- p.Thr458Pro Multiple submitters ⚠
- p.Thr542Ala Multiple submitters ⚠
- p.Thr542Lys Multiple submitters ⚠
- p.Thr825Ala Multiple submitters ⚠
- p.Thr832Ser Multiple submitters ⚠
- p.Thr861Ile Multiple submitters ⚠
- p.Thr895Pro Multiple submitters ⚠
- p.Trp855Arg Multiple submitters ⚠
- p.Tyr318His Multiple submitters ⚠
- p.Val319Leu Multiple submitters ⚠
- p.Val336Ala Multiple submitters ⚠
- p.Val383Leu Multiple submitters ⚠
- p.Val412Leu Multiple submitters ⚠
- p.Val583Ile Multiple submitters ⚠
- p.Val649Leu Multiple submitters ⚠
- p.Val743Ile Multiple submitters ⚠
- p.Val747Ala Multiple submitters ⚠
- p.Val799Ala Multiple submitters ⚠
- c.1215_1218+66dup Single submitter
- c.1219-19T>G Single submitter
- c.1219-2A>T Single submitter LCAT deficiency
- c.1219-8C>G Single submitter
- c.1399-2A>C Single submitter
- c.1643+4A>G Single submitter
- c.1643+4A>T Single submitter
- c.1644-8T>A Single submitter
- c.2096-5T>C Single submitter
- c.2096-9T>A Single submitter
- c.2340+3G>T Single submitter
- c.2340+6T>A Single submitter
- c.2341-4A>G Single submitter
- c.2398+3G>A Single submitter
- c.271+2C>G Single submitter
- c.888-7C>G Single submitter
- p.Ala365Glu Single submitter ⚠
- p.Ala410Thr Single submitter ⚠
- p.Ala439Thr Single submitter ⚠
- p.Ala536Asp Single submitter ⚠
- p.Ala561Gly Single submitter ⚠
- p.Ala561Thr Single submitter ⚠
- p.Ala627Val Single submitter ⚠
- p.Ala811Ser Single submitter ⚠
- p.Ala819Thr Single submitter ⚠
- p.Ala870Thr Single submitter ⚠
- p.Ala904Asp Single submitter ⚠
- p.Ala904Thr Single submitter ⚠
- p.Arg326Trp Single submitter ⚠
- p.Arg373Gly Single submitter ⚠
- p.Arg373Ile Single submitter ⚠
- p.Arg533Lys Single submitter ⚠
- p.Arg548Gln Single submitter ⚠
- p.Arg548Gly Single submitter ⚠
- p.Arg602= Single submitter
- p.Arg602Lys Single submitter ⚠
- p.Arg677His Single submitter ⚠
- p.Arg682Ter Single submitter
- p.Arg719Lys Single submitter ⚠
- p.Arg830His Single submitter ⚠
- p.Arg830Pro Single submitter ⚠
- p.Arg867Cys Single submitter ⚠
- p.Arg871Gln Single submitter ⚠
- p.Arg871Ter Single submitter
- p.Asn154His Single submitter ⚠
- p.Asn281Lys Single submitter ⚠
- p.Asn345Lys Single submitter ⚠
- p.Asn451His Single submitter ⚠
- p.Asn522Asp Single submitter ⚠
- p.Asn522His Single submitter ⚠
- p.Asn539Ser Single submitter ⚠
- p.Asn560fs Single submitter
- p.Asn560Ser Single submitter ⚠
- p.Asn643Ile Single submitter ⚠
- p.Asn694fs Single submitter
- p.Asn700Asp Single submitter ⚠
- p.Asn765Ser Single submitter ⚠
- p.Asn805Ser Single submitter ⚠
- p.Asp353Gly Single submitter ⚠
- p.Asp385Ala Single submitter ⚠
- p.Asp385Gly Single submitter ⚠
- p.Asp471Glu Single submitter ⚠
- p.Asp483Asn Single submitter ⚠
- p.Asp529Ala Single submitter ⚠
- p.Asp574His Single submitter ⚠
- p.Asp582Asn Single submitter ⚠
- p.Asp582fs Single submitter
- p.Asp582Tyr Single submitter ⚠
- p.Asp613Asn Single submitter ⚠
- p.Asp613His Single submitter ⚠
- p.Asp656Ala Single submitter ⚠
- p.Asp663Tyr Single submitter ⚠
- p.Asp703Gly Single submitter ⚠
- p.Asp707Ala Single submitter ⚠
- p.Asp707Asn Single submitter ⚠
- p.Asp707His Single submitter ⚠
- p.Asp707Tyr Single submitter ⚠
- p.Asp797Tyr Single submitter ⚠
- p.Asp804Asn Single submitter ⚠
- p.Asp842His Single submitter ⚠
- p.Asp864Asn Single submitter ⚠
- p.Asp864His Single submitter ⚠
- p.Asp902Gly Single submitter ⚠
- p.Cys130Arg Single submitter ⚠
- p.Cys325Ter Single submitter
- p.Cys351Ser Single submitter ⚠
- p.Cys425Gly Single submitter ⚠
- p.Cys515Tyr Single submitter ⚠
- p.Cys634Ter Single submitter
- p.Cys772Phe Single submitter ⚠
- p.Cys772Ter Single submitter
- p.Cys853Arg Single submitter ⚠
- p.Cys86Tyr Single submitter
- p.Gln174Lys Single submitter ⚠
- p.Gln321Arg Single submitter ⚠
- p.Gln389Ter Single submitter
- p.Gln481Arg Single submitter ⚠
- p.Gln686Lys Single submitter ⚠
- p.Gln723Arg Single submitter ⚠
- p.Gln834Arg Single submitter ⚠
- p.Gln847Glu Single submitter ⚠
- p.Glu206Asp Single submitter ⚠
- p.Glu324Asp Single submitter ⚠
- p.Glu324fs Single submitter
- p.Glu324Ter Single submitter
- p.Glu340Gly Single submitter ⚠
- p.Glu429Asp Single submitter ⚠
- p.Glu429Gln Single submitter ⚠
- p.Glu729Lys Single submitter ⚠
- p.Glu729Ter Single submitter
- p.Glu816Lys Single submitter ⚠
- p.Glu817Lys Single submitter ⚠
- p.Glu846Ter Single submitter
- p.Glu883Gln Single submitter ⚠
- p.Glu884Lys Single submitter ⚠
- p.Gly306Asp Single submitter ⚠
- p.Gly337Arg Single submitter ⚠
- p.Gly337Asp Single submitter ⚠
- p.Gly337Ser Single submitter ⚠
- p.Gly400Val Single submitter ⚠
- p.Gly403Arg Single submitter ⚠
- p.Gly407Glu Single submitter ⚠
- p.Gly418Arg Single submitter ⚠
- p.Gly418Cys Single submitter ⚠
- p.Gly525Val Single submitter ⚠
- p.Gly590Asp Single submitter ⚠
- p.Gly590Val Single submitter
- p.Gly668Val Single submitter ⚠
- p.Gly701Arg Single submitter
- p.Gly740Val Single submitter ⚠
- p.Gly750Arg Single submitter ⚠
- p.Gly750Glu Single submitter ⚠
- p.His170Arg Single submitter ⚠
- p.His477Asn Single submitter ⚠
- p.His477Gln Single submitter ⚠
- p.His499Arg Single submitter ⚠
- p.His530Arg Single submitter ⚠
- p.His607Tyr Single submitter ⚠
- p.His645Gln Single submitter ⚠
- p.His678Arg Single submitter ⚠
- p.His766Tyr Single submitter ⚠
- p.His781Gln Single submitter ⚠
- p.His849fs Single submitter
- p.Ile156Met Single submitter ⚠
- p.Ile224Thr Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Ile275Thr Single submitter ⚠
- p.Ile286Thr Single submitter ⚠
- p.Ile327Lys Single submitter ⚠
- p.Ile349Thr Single submitter ⚠
- p.Ile349Val Single submitter ⚠
- p.Ile362Thr Single submitter ⚠
- p.Ile364Thr Single submitter ⚠
- p.Ile379del Single submitter
- p.Ile379Ser Single submitter ⚠
- p.Ile386Met Single submitter ⚠
- p.Ile495Thr Single submitter ⚠
- p.Ile497Met Single submitter ⚠
- p.Ile528Thr Single submitter ⚠
- p.Ile528Val Single submitter optic atrophy ⚠
- p.Ile742Phe Single submitter ⚠
- p.Ile785Ser Single submitter
- p.Ile833Val Single submitter ⚠
- p.Ile876Thr Single submitter ⚠
- p.Leu301Pro Single submitter ⚠
- p.Leu320Pro Single submitter ⚠
- p.Leu393Pro Single submitter ⚠
- p.Leu567Ser Single submitter ⚠
- p.Leu687His Single submitter ⚠
- p.Leu688Arg Single submitter ⚠
- p.Leu714Ser Single submitter ⚠
- p.Leu722Phe Single submitter ⚠
- p.Leu828Pro Single submitter ⚠
- p.Leu835Val Single submitter ⚠
- p.Leu838Phe Single submitter
- p.Lys356Asn Single submitter ⚠
- p.Lys406Glu Single submitter ⚠
- p.Lys413Arg Single submitter ⚠
- p.Lys428fs Single submitter
- p.Lys585Gln Single submitter ⚠
- p.Lys655Arg Single submitter ⚠
- p.Lys702fs Single submitter
- p.Lys725Glu Single submitter ⚠
- p.Lys746= Single submitter
- p.Lys777fs Single submitter
- p.Lys782Asn Single submitter ⚠
- p.Lys837Glu Single submitter ⚠
- p.Lys865Arg Single submitter ⚠
- p.Lys865Glu Single submitter ⚠
- p.Lys875Asn Single submitter
- p.Lys892Glu Single submitter ⚠
- p.Lys90Gln Single submitter
- p.Met126Leu Single submitter
- p.Met184Val Single submitter ⚠
- p.Met227Val Single submitter ⚠
- p.Met331fs Single submitter
- p.Met331Thr Single submitter ⚠
- p.Met444Val Single submitter ⚠
- p.Met628Thr Single submitter ⚠
- p.Phe505Leu Single submitter ⚠
- p.Phe512Leu Single submitter ⚠
- p.Phe546Ile Single submitter ⚠
- p.Phe546Tyr Single submitter ⚠
- p.Phe620fs Single submitter
- p.Phe620Ser Single submitter ⚠
- p.Phe691fs Single submitter
- p.Phe887Leu Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro316Ala Single submitter ⚠
- p.Pro469Ser Single submitter
- p.Pro493Thr Single submitter
- p.Pro500fs Single submitter
- p.Pro500Ser Single submitter ⚠
- p.Pro543Thr Single submitter ⚠
- p.Pro557Leu Single submitter ⚠
- p.Pro644Leu Single submitter ⚠
- p.Pro644Thr Single submitter ⚠
- p.Pro672Leu Single submitter ⚠
- p.Pro672Thr Single submitter ⚠