LRAT — 291 ClinVar variants
All ClinVar germline LRAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
18 Pathogenic · 7 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 14 Conflicting · 2 Benign · 7 Benign/Likely benign · 72 Likely benign · 160 Uncertain significance
Full LRAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LRAT p.Ala135Ser
Conflicting
Single submitter
retinitis pigmentosa
-
LRAT p.Ala204Val
Conflicting
Single submitter
retinitis pigmentosa
-
LRAT p.Asn3Ser
Conflicting
Single submitter
Inborn genetic diseases
-
LRAT p.His163Asp
Conflicting
Single submitter
Leber congenital amaurosis 14
-
LRAT p.Phe116Leu
Conflicting
Single submitter
Leber congenital amaurosis 1
-
LRAT p.Pro75Leu
Conflicting
Single submitter
Leber congenital amaurosis 14
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LRAT p.Ala120Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LRAT p.Ala30Val Uncertain significance Multiple submitters
- LRAT p.Asn138Lys Uncertain significance Multiple submitters
-
LRAT p.Asn159Ser
Uncertain significance
Multiple submitters
Leber congenital amaurosis 14
-
LRAT p.Asn37Lys
Uncertain significance
Multiple submitters
Leber congenital amaurosis 14
-
LRAT p.Asp128His
Uncertain significance
Multiple submitters
Leber congenital amaurosis 14
-
LRAT p.Gly100Asp
Uncertain significance
Multiple submitters
Leber congenital amaurosis 14
-
LRAT p.Ile122Val
Uncertain significance
Multiple submitters
Leber congenital amaurosis 14
- LRAT p.Ile77Met Uncertain significance Multiple submitters
- LRAT p.Lys133Thr Uncertain significance Multiple submitters
-
LRAT p.Pro173Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LRAT p.Ser107Gly Uncertain significance Multiple submitters
-
LRAT p.Ser27Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LRAT p.Thr215Ser Uncertain significance Multiple submitters
-
LRAT p.Thr82Ala
Uncertain significance
Multiple submitters
Leber congenital amaurosis 14
-
LRAT p.Val105Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LRAT p.Ala80Val Uncertain significance Single submitter
- LRAT p.Arg109Leu Uncertain significance Single submitter
- LRAT p.Arg143Leu Uncertain significance Single submitter
-
LRAT p.Arg143Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Arg144Lys Uncertain significance Single submitter
-
LRAT p.Arg193Ile
Uncertain significance
Single submitter
Leber congenital amaurosis 14
- LRAT p.Arg55Gln Uncertain significance Single submitter
-
LRAT p.Arg87Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Asp128Glu Uncertain significance Single submitter
- LRAT p.Asp33Asn Uncertain significance Single submitter
- LRAT p.Asp33Glu Uncertain significance Single submitter
- LRAT p.Asp49Glu Uncertain significance Single submitter
- LRAT p.Asp84Asn Uncertain significance Single submitter
- LRAT p.Gln177His Uncertain significance Single submitter
- LRAT p.Glu129Gln Uncertain significance Single submitter
- LRAT p.Glu162Gly Uncertain significance Single submitter
- LRAT p.Gly28Asp Uncertain significance Single submitter
- LRAT p.His163Gln Uncertain significance Single submitter
-
LRAT p.His163Tyr
Uncertain significance
Single submitter
Leber congenital amaurosis 14
-
LRAT p.His46Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Ile187Thr Uncertain significance Single submitter
- LRAT p.Ile188Leu Uncertain significance Single submitter
-
LRAT p.Ile19Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Leu127Arg Uncertain significance Single submitter
- LRAT p.Leu16Met Uncertain significance Single submitter
- LRAT p.Leu211Trp Uncertain significance Single submitter
- LRAT p.Leu217Phe Uncertain significance Single submitter
-
LRAT p.Leu51Pro
Uncertain significance
Single submitter
Leber congenital amaurosis 14
- LRAT p.Leu79Trp Uncertain significance Single submitter
-
LRAT p.Met5Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Pro173Leu Uncertain significance Single submitter
-
LRAT p.Pro218Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LRAT p.Pro4Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Pro4His Uncertain significance Single submitter
- LRAT p.Pro54Thr Uncertain significance Single submitter
- LRAT p.Thr166Ser Uncertain significance Single submitter
- LRAT p.Thr184Ser Uncertain significance Single submitter
- LRAT p.Thr209Met Uncertain significance Single submitter
- LRAT p.Thr215Asn Uncertain significance Single submitter
-
LRAT p.Thr216Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Tyr154Cys Uncertain significance Single submitter
- LRAT p.Tyr214Ser Uncertain significance Single submitter
-
LRAT p.Tyr40Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Tyr61Asn Uncertain significance Single submitter
- LRAT p.Tyr64His Uncertain significance Single submitter
- LRAT p.Val124Ile Uncertain significance Single submitter
- LRAT p.Val195Ile Uncertain significance Single submitter
- LRAT p.Val200Ala Uncertain significance Single submitter
-
LRAT p.Val92Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Val9Ala Uncertain significance Single submitter
-
LRAT p.Cys168Ser
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
LRAT p.Ser26Arg
Uncertain significance
No assertion criteria
breast ductal adenocarcinoma
Predictors split 25
The independent predictors disagree with each other — read with care.
- LRAT p.Arg190His Uncertain significance Multiple submitters
-
LRAT p.Arg69Cys
Uncertain significance
Multiple submitters
Leber congenital amaurosis 14
- LRAT p.Gly66Glu Uncertain significance Multiple submitters
- LRAT p.Thr215Ala Benign/Likely benign Multiple submitters
-
LRAT p.Ala106Thr
Conflicting
Single submitter
Leber congenital amaurosis 14
- LRAT p.Ala219Glu Uncertain significance Single submitter
- LRAT p.Arg47Leu Uncertain significance Single submitter
-
LRAT p.Arg96His
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Asn159Lys Uncertain significance Single submitter
- LRAT p.Asn94Tyr Uncertain significance Single submitter
- LRAT p.Asp76Asn Uncertain significance Single submitter
- LRAT p.Cys182Tyr Uncertain significance Single submitter
-
LRAT p.Glu140Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
-
LRAT p.Gly100Ser
Conflicting
Single submitter
Leber congenital amaurosis 1
- LRAT p.Gly66Arg Uncertain significance Single submitter
- LRAT p.Leu201Trp Uncertain significance Single submitter
- LRAT p.Lys186Glu Uncertain significance Single submitter
- LRAT p.Lys186Thr Uncertain significance Single submitter
- LRAT p.Phe181Leu Uncertain significance Single submitter
- LRAT p.Pro223Thr Uncertain significance Single submitter
- LRAT p.Ser178Pro Uncertain significance Single submitter
-
LRAT p.Thr215Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- LRAT p.Trp158Arg Uncertain significance Single submitter
- LRAT p.Val50Ala Uncertain significance Single submitter
-
LRAT p.Cys161Arg
Likely pathogenic
No assertion criteria
Leber congenital amaurosis 14
All LRAT variants
Pathogenic 18
- p.Arg55Trp Multiple submitters Leber congenital amaurosis
- p.Cys168Ter Multiple submitters Leber congenital amaurosis 14
- p.Met5fs Multiple submitters inherited retinal dystrophy
- p.Val53dup Multiple submitters Leber congenital amaurosis 14
- c.540+1G>A Single submitter
- p.Ala197fs Single submitter
- p.Arg143fs Single submitter
- p.Arg55fs Single submitter
- p.Asp67fs Single submitter
- p.Ile174fs Single submitter
- p.Leu81fs Single submitter Leber congenital amaurosis 14
- p.Met85fs Single submitter
- p.Ser175Arg Single submitter
- p.Trp158Ter Single submitter inherited retinal dystrophy
- p.Tyr154Ter Single submitter
- p.Val105fs Single submitter
- p.Val185fs Single submitter Leber congenital amaurosis 14
- p.Glu7fs No assertion criteria inherited retinal dystrophy
Pathogenic/Likely pathogenic 7
- p.Arg36fs Multiple submitters LRAT-related disorder
- p.Arg47Ter Multiple submitters retinitis pigmentosa
- p.Arg55Gly Multiple submitters Leber congenital amaurosis 1
- p.Asp33fs Multiple submitters LRAT-related disorder
- p.Lys134fs Multiple submitters LRAT-related disorder
- p.Met73fs Multiple submitters LRAT-related disorder
- p.Tyr154fs Multiple submitters LRAT-related disorder
Likely pathogenic 11
- p.Leu157Pro Multiple submitters LRAT-related disorder
- p.Ala142Glu Single submitter LRAT-related disorder
- p.Asp115fs Single submitter LRAT-related disorder
- p.Glu14Ter Single submitter Leber congenital amaurosis
- p.Ile102Ser Single submitter LRAT-related disorder
- p.Leu203Ter Single submitter
- p.Leu78fs Single submitter
- p.Asp191Tyr No assertion criteria inherited retinal dystrophy
- p.Cys161Arg No assertion criteria Leber congenital amaurosis 14 ⚠
- p.Gln89fs No assertion criteria retinitis pigmentosa
- p.Val50Gly No assertion criteria Leber congenital amaurosis 14
Conflicting classifications of pathogenicity 14
- c.*3T>G Single submitter retinitis pigmentosa
- c.*98C>T Single submitter Leber congenital amaurosis 14
- p.Ala106Thr Single submitter Leber congenital amaurosis 14 ⚠
- p.Ala135Ser Single submitter retinitis pigmentosa ⚠
- p.Ala204Val Single submitter retinitis pigmentosa ⚠
- p.Asn3Ser Single submitter Inborn genetic diseases ⚠
- p.Asp83fs Single submitter inherited retinal dystrophy
- p.Glu14Leu Single submitter Leber congenital amaurosis
- p.Gly100Ser Single submitter Leber congenital amaurosis 1 ⚠
- p.Gly86= Single submitter Leber congenital amaurosis 14
- p.His163Asp Single submitter Leber congenital amaurosis 14 ⚠
- p.Phe116Leu Single submitter Leber congenital amaurosis 1 ⚠
- p.Pro173= Single submitter Leber congenital amaurosis 14
- p.Pro75Leu Single submitter Leber congenital amaurosis 14 ⚠
Benign 2
- c.*3618G>A Single submitter retinitis pigmentosa
- p.Thr209= Single submitter
Benign/Likely benign 7
- c.*1338T>G Multiple submitters Leber congenital amaurosis 14
- c.*1867C>T Multiple submitters Leber congenital amaurosis 14
- c.*2670G>T Multiple submitters Leber congenital amaurosis 14
- c.*817A>G Multiple submitters Leber congenital amaurosis 14
- p.Glu114= Multiple submitters inherited retinal dystrophy
- p.Phe25Tyr Multiple submitters retinitis pigmentosa
- p.Thr215Ala Multiple submitters ⚠
Likely benign 72
- p.Cys208= Multiple submitters
- p.Leu201= Multiple submitters
- p.Leu58= Multiple submitters
- p.Ser175= Multiple submitters
- p.Thr23= Multiple submitters
- p.Thr42= Multiple submitters
- c.540+12G>T Single submitter
- c.540+18C>G Single submitter
- c.541-9A>G Single submitter
- c.-199G>T Single submitter retinitis pigmentosa
- c.*2529C>T Single submitter retinitis pigmentosa
- c.*3382G>A Single submitter retinitis pigmentosa
- p.Ala199= Single submitter
- p.Ala204= Single submitter
- p.Ala219= Single submitter
- p.Ala71= Single submitter
- p.Ala80= Single submitter
- p.Arg143= Single submitter
- p.Arg193= Single submitter
- p.Arg47= Single submitter
- p.Arg55= Single submitter
- p.Asn138= Single submitter
- p.Asn3= Single submitter
- p.Asn94= Single submitter
- p.Asp115= Single submitter
- p.Asp83= Single submitter
- p.Glu140= Single submitter
- p.Glu162= Single submitter
- p.Glu7= Single submitter
- p.Gly100= Single submitter
- p.Gly28= Single submitter
- p.Gly48= Single submitter
- p.Gly66= Single submitter
- p.His57= Single submitter
- p.Ile187= Single submitter
- p.Ile188= Single submitter
- p.Ile77= Single submitter
- p.Ile98= Single submitter
- p.Leu11= Single submitter
- p.Leu123= Single submitter
- p.Leu13= Single submitter
- p.Leu137= Single submitter
- p.Leu148= Single submitter
- p.Leu156= Single submitter
- p.Leu157= Single submitter
- p.Leu226= Single submitter
- p.Leu24= Single submitter
- p.Leu51= Single submitter
- p.Leu81= Single submitter
- p.Leu99= Single submitter
- p.Lys147= Single submitter
- p.Phe164= Single submitter
- p.Phe22= Single submitter
- p.Pro218= Single submitter
- p.Ser178= Single submitter
- p.Ser194= Single submitter
- p.Ser27= Single submitter
- p.Ser27Leu Single submitter inherited retinal dystrophy
- p.Ser38= Single submitter
- p.Ser44= Single submitter
- p.Ter231= Single submitter
- p.Thr112= Single submitter
- p.Thr172= Single submitter
- p.Thr56= Single submitter
- p.Thr59= Single submitter
- p.Tyr167= Single submitter
- p.Tyr170= Single submitter
- p.Tyr214= Single submitter
- p.Tyr64= Single submitter
- p.Val113= Single submitter
- p.Val53= Single submitter
- p.Val9= Single submitter
Uncertain significance 160
- c.*2625A>G Multiple submitters Leber congenital amaurosis 14
- p.Ala120Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala30Val Multiple submitters ⚠
- p.Arg190His Multiple submitters ⚠
- p.Arg69Cys Multiple submitters Leber congenital amaurosis 14 ⚠
- p.Asn125Ser Multiple submitters
- p.Asn138Lys Multiple submitters ⚠
- p.Asn159Ser Multiple submitters Leber congenital amaurosis 14 ⚠
- p.Asn37Lys Multiple submitters Leber congenital amaurosis 14 ⚠
- p.Asp128His Multiple submitters Leber congenital amaurosis 14 ⚠
- p.Gly100Asp Multiple submitters Leber congenital amaurosis 14 ⚠
- p.Gly210Arg Multiple submitters Inborn genetic diseases
- p.Gly66Glu Multiple submitters ⚠
- p.Ile122Val Multiple submitters Leber congenital amaurosis 14 ⚠
- p.Ile77Met Multiple submitters ⚠
- p.Lys133Thr Multiple submitters ⚠
- p.Pro173Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser107Gly Multiple submitters ⚠
- p.Ser27Trp Multiple submitters Inborn genetic diseases ⚠
- p.Thr215Ser Multiple submitters ⚠
- p.Thr82Ala Multiple submitters Leber congenital amaurosis 14 ⚠
- p.Val105Glu Multiple submitters Inborn genetic diseases ⚠
- c.541-16A>G Single submitter Leber congenital amaurosis 14
- c.541-753T>G Single submitter LRAT-related disorder
- c.-1-12T>C Single submitter retinitis pigmentosa
- c.-115C>G Single submitter Leber congenital amaurosis 14
- c.-15C>T Single submitter retinitis pigmentosa
- c.-2+7A>C Single submitter Leber congenital amaurosis 14
- c.-84C>T Single submitter Leber congenital amaurosis 14
- c.*106T>C Single submitter Leber congenital amaurosis 14
- c.*1120C>T Single submitter retinitis pigmentosa
- c.*1155T>A Single submitter Leber congenital amaurosis 14
- c.*1281C>A Single submitter Leber congenital amaurosis 14
- c.*138C>A Single submitter Leber congenital amaurosis 14
- c.*1390G>A Single submitter retinitis pigmentosa
- c.*1418C>G Single submitter retinitis pigmentosa
- c.*1585T>G Single submitter Leber congenital amaurosis 14
- c.*1936G>C Single submitter retinitis pigmentosa
- c.*2064T>G Single submitter retinitis pigmentosa
- c.*2190C>T Single submitter Leber congenital amaurosis 14
- c.*2222G>C Single submitter retinitis pigmentosa
- c.*2310A>T Single submitter Leber congenital amaurosis 14
- c.*2322C>T Single submitter retinitis pigmentosa
- c.*2347C>T Single submitter retinitis pigmentosa
- c.*2396C>G Single submitter Leber congenital amaurosis 14
- c.*2417G>A Single submitter retinitis pigmentosa
- c.*2418G>A Single submitter Leber congenital amaurosis 14
- c.*2453C>A Single submitter Leber congenital amaurosis 14
- c.*2458C>T Single submitter retinitis pigmentosa
- c.*2463T>C Single submitter Leber congenital amaurosis 14
- c.*2467C>G Single submitter Leber congenital amaurosis 14
- c.*2629G>A Single submitter retinitis pigmentosa
- c.*2854A>G Single submitter retinitis pigmentosa
- c.*2855A>G Single submitter retinitis pigmentosa
- c.*2968C>G Single submitter Leber congenital amaurosis 14
- c.*3072G>T Single submitter retinitis pigmentosa
- c.*3081A>C Single submitter retinitis pigmentosa
- c.*313del Single submitter
- c.*3163C>T Single submitter retinitis pigmentosa
- c.*3213C>T Single submitter retinitis pigmentosa
- c.*3263C>T Single submitter retinitis pigmentosa
- c.*3264G>A Single submitter Leber congenital amaurosis 14
- c.*329T>C Single submitter Leber congenital amaurosis 14
- c.*336C>T Single submitter Leber congenital amaurosis 14
- c.*3509C>A Single submitter retinitis pigmentosa
- c.*3654T>C Single submitter Leber congenital amaurosis 14
- c.*3712G>C Single submitter Leber congenital amaurosis 14
- c.*3714T>C Single submitter retinitis pigmentosa
- c.*3770A>G Single submitter Leber congenital amaurosis 14
- c.*3819T>C Single submitter Leber congenital amaurosis 14
- c.*3917A>G Single submitter retinitis pigmentosa
- c.*3958G>A Single submitter Leber congenital amaurosis 14
- c.*3978C>T Single submitter Leber congenital amaurosis 14
- c.*3980T>C Single submitter Leber congenital amaurosis 14
- c.*495C>T Single submitter Leber congenital amaurosis 14
- c.*517G>A Single submitter Leber congenital amaurosis 14
- c.*549T>C Single submitter Leber congenital amaurosis 14
- c.*561A>G Single submitter Leber congenital amaurosis 14
- c.*624T>C Single submitter Leber congenital amaurosis 14
- c.*632T>C Single submitter Leber congenital amaurosis 14
- c.*640T>C Single submitter Leber congenital amaurosis 14
- c.*671A>G Single submitter Leber congenital amaurosis 14
- c.*81T>C Single submitter retinitis pigmentosa
- c.*826C>T Single submitter Leber congenital amaurosis 14
- c.*828G>C Single submitter retinitis pigmentosa
- c.*98C>A Single submitter retinitis pigmentosa
- p.Ala219Glu Single submitter ⚠
- p.Ala80Val Single submitter ⚠
- p.Arg109Leu Single submitter ⚠
- p.Arg143Leu Single submitter ⚠
- p.Arg143Trp Single submitter Inborn genetic diseases ⚠
- p.Arg144Lys Single submitter ⚠
- p.Arg193Ile Single submitter Leber congenital amaurosis 14 ⚠
- p.Arg47Leu Single submitter ⚠
- p.Arg55Gln Single submitter ⚠
- p.Arg87Ser Single submitter Inborn genetic diseases ⚠
- p.Arg96His Single submitter Inborn genetic diseases ⚠
- p.Asn159Lys Single submitter ⚠
- p.Asn94Tyr Single submitter ⚠
- p.Asp128Glu Single submitter ⚠
- p.Asp33Asn Single submitter ⚠
- p.Asp33Glu Single submitter ⚠
- p.Asp49Glu Single submitter ⚠
- p.Asp76Asn Single submitter ⚠
- p.Asp84Asn Single submitter ⚠
- p.Cys182Tyr Single submitter ⚠
- p.Gln177His Single submitter ⚠
- p.Glu129Gln Single submitter ⚠
- p.Glu140Lys Single submitter inherited retinal dystrophy ⚠
- p.Glu162Gly Single submitter ⚠
- p.Gly28Asp Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.His163Gln Single submitter ⚠
- p.His163Tyr Single submitter Leber congenital amaurosis 14 ⚠
- p.His46Arg Single submitter Inborn genetic diseases ⚠
- p.Ile102del Single submitter Leber congenital amaurosis 14
- p.Ile187Thr Single submitter ⚠
- p.Ile188Leu Single submitter ⚠
- p.Ile19Val Single submitter Inborn genetic diseases ⚠
- p.Leu127Arg Single submitter ⚠
- p.Leu16Met Single submitter ⚠
- p.Leu18del Single submitter
- p.Leu201Trp Single submitter ⚠
- p.Leu211Trp Single submitter ⚠
- p.Leu217Phe Single submitter ⚠
- p.Leu226fs Single submitter Leber congenital amaurosis 14
- p.Leu51Pro Single submitter Leber congenital amaurosis 14 ⚠
- p.Leu79Trp Single submitter ⚠
- p.Lys186Glu Single submitter ⚠
- p.Lys186Thr Single submitter ⚠
- p.Met5Arg Single submitter Inborn genetic diseases ⚠
- p.Phe181Leu Single submitter ⚠
- p.Pro173Leu Single submitter ⚠
- p.Pro218Thr Single submitter Inborn genetic diseases ⚠
- p.Pro223Thr Single submitter ⚠
- p.Pro4Arg Single submitter Inborn genetic diseases ⚠
- p.Pro4His Single submitter ⚠
- p.Pro54Thr Single submitter ⚠
- p.Ser178Pro Single submitter ⚠
- p.Thr166Ser Single submitter ⚠
- p.Thr184Ser Single submitter ⚠
- p.Thr209Met Single submitter ⚠
- p.Thr215Asn Single submitter ⚠
- p.Thr215Ile Single submitter Inborn genetic diseases ⚠
- p.Thr216Ile Single submitter Inborn genetic diseases ⚠
- p.Trp158Arg Single submitter ⚠
- p.Tyr154Cys Single submitter ⚠
- p.Tyr214Ser Single submitter ⚠
- p.Tyr40Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr61Asn Single submitter ⚠
- p.Tyr64His Single submitter ⚠
- p.Val124Ile Single submitter ⚠
- p.Val195Ile Single submitter ⚠
- p.Val200Ala Single submitter ⚠
- p.Val50Ala Single submitter ⚠
- p.Val92Ile Single submitter Inborn genetic diseases ⚠
- p.Val9Ala Single submitter ⚠
- p.Cys168Ser No assertion criteria inherited retinal dystrophy ⚠
- p.Lys186Gln No assertion criteria Leber congenital amaurosis 14
- p.Ser26Arg No assertion criteria breast ductal adenocarcinoma ⚠