EFEMP1 — 405 ClinVar variants
All ClinVar germline EFEMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →
8 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 10 Conflicting · 54 Benign · 4 Benign/Likely benign · 124 Likely benign · 199 Uncertain significance
Full EFEMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 179
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
EFEMP1 p.Arg134Gln
Conflicting
Single submitter
Inborn genetic diseases
-
EFEMP1 p.Asp49Ala
Conflicting
Single submitter
Doyne honeycomb retinal dystrophy
-
EFEMP1 p.Ile45Thr
Conflicting
Single submitter
Doyne honeycomb retinal dystrophy
Predictors lean, ClinVar uncertain 100
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EFEMP1 p.Ala126Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFEMP1 p.Arg194Gln Uncertain significance Multiple submitters
-
EFEMP1 p.Arg208Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Arg401Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Asn80Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Gly58Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Ile400Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Ile473Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFEMP1 p.Leu451Phe Uncertain significance Multiple submitters
-
EFEMP1 p.Lys16Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Met130Thr
Uncertain significance
Multiple submitters
Glaucoma 1, open angle, H
-
EFEMP1 p.Pro128Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Thr98Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Val213Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Val452Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFEMP1 p.Ala104Ser Uncertain significance Single submitter
- EFEMP1 p.Ala104Thr Uncertain significance Single submitter
- EFEMP1 p.Ala122Pro Uncertain significance Single submitter
-
EFEMP1 p.Ala126Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Ala144Gly Uncertain significance Single submitter
-
EFEMP1 p.Ala247Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Ala260Thr Uncertain significance Single submitter
- EFEMP1 p.Ala4Thr Uncertain significance Single submitter
- EFEMP1 p.Ala97Thr Uncertain significance Single submitter
- EFEMP1 p.Arg140Gln Uncertain significance Single submitter
- EFEMP1 p.Arg148His Uncertain significance Single submitter
- EFEMP1 p.Arg156Cys Uncertain significance Single submitter
- EFEMP1 p.Arg185Gly Uncertain significance Single submitter
-
EFEMP1 p.Arg358Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Asn169Lys Uncertain significance Single submitter
- EFEMP1 p.Asn248Lys Uncertain significance Single submitter
- EFEMP1 p.Asn262Ser Uncertain significance Single submitter
- EFEMP1 p.Asn63Thr Uncertain significance Single submitter
-
EFEMP1 p.Asn81Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Asp175Asn Uncertain significance Single submitter
- EFEMP1 p.Asp214Glu Uncertain significance Single submitter
- EFEMP1 p.Asp259Val Uncertain significance Single submitter
-
EFEMP1 p.Asp46Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Cys190Arg Uncertain significance Single submitter
-
EFEMP1 p.Cys55Arg
Uncertain significance
Single submitter
cutis laxa, autosomal recessive, type 1d
- EFEMP1 p.Gln131His Uncertain significance Single submitter
- EFEMP1 p.Gln147Arg Uncertain significance Single submitter
- EFEMP1 p.Gln188His Uncertain significance Single submitter
- EFEMP1 p.Gln211Glu Uncertain significance Single submitter
- EFEMP1 p.Gln40Lys Uncertain significance Single submitter
- EFEMP1 p.Gln89Glu Uncertain significance Single submitter
- EFEMP1 p.Glu176Lys Uncertain significance Single submitter
- EFEMP1 p.Glu284Asp Uncertain significance Single submitter
- EFEMP1 p.Glu293Lys Uncertain significance Single submitter
- EFEMP1 p.Gly127Asp Uncertain significance Single submitter
- EFEMP1 p.Gly32Arg Uncertain significance Single submitter
- EFEMP1 p.Gly355Ser Uncertain significance Single submitter
- EFEMP1 p.Gly435Arg Uncertain significance Single submitter
- EFEMP1 p.His168Tyr Uncertain significance Single submitter
- EFEMP1 p.Ile139Val Uncertain significance Single submitter
- EFEMP1 p.Ile149Val Uncertain significance Single submitter
- EFEMP1 p.Ile157Phe Uncertain significance Single submitter
- EFEMP1 p.Ile174Val Uncertain significance Single submitter
- EFEMP1 p.Ile191Val Uncertain significance Single submitter
- EFEMP1 p.Ile215Thr Uncertain significance Single submitter
- EFEMP1 p.Ile220Phe Uncertain significance Single submitter
- EFEMP1 p.Ile220Val Uncertain significance Single submitter
-
EFEMP1 p.Ile24Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Ile271Val Uncertain significance Single submitter
- EFEMP1 p.Ile462Thr Uncertain significance Single submitter
- EFEMP1 p.Ile473Thr Uncertain significance Single submitter
- EFEMP1 p.Ile50Val Uncertain significance Single submitter
- EFEMP1 p.Ile77Phe Uncertain significance Single submitter
- EFEMP1 p.Leu389Met Uncertain significance Single submitter
- EFEMP1 p.Leu5Ile Uncertain significance Single submitter
- EFEMP1 p.Met107Ile Uncertain significance Single submitter
- EFEMP1 p.Met130Val Uncertain significance Single submitter
- EFEMP1 p.Met349Ile Uncertain significance Single submitter
- EFEMP1 p.Met385Ile Uncertain significance Single submitter
- EFEMP1 p.Met385Leu Uncertain significance Single submitter
- EFEMP1 p.Met448Val Uncertain significance Single submitter
- EFEMP1 p.Pro203Ser Uncertain significance Single submitter
- EFEMP1 p.Pro241Ser Uncertain significance Single submitter
- EFEMP1 p.Pro390Leu Uncertain significance Single submitter
- EFEMP1 p.Pro458Arg Uncertain significance Single submitter
- EFEMP1 p.Ser154Phe Uncertain significance Single submitter
- EFEMP1 p.Ser287Gly Uncertain significance Single submitter
- EFEMP1 p.Ser329Asn Uncertain significance Single submitter
- EFEMP1 p.Ser479Arg Uncertain significance Single submitter
-
EFEMP1 p.Ser492Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Thr178Ala Uncertain significance Single submitter
- EFEMP1 p.Thr219Ser Uncertain significance Single submitter
- EFEMP1 p.Thr231Ile Uncertain significance Single submitter
- EFEMP1 p.Thr422Ile Uncertain significance Single submitter
- EFEMP1 p.Thr425Ser Uncertain significance Single submitter
- EFEMP1 p.Tyr163Cys Uncertain significance Single submitter
- EFEMP1 p.Tyr369His Uncertain significance Single submitter
- EFEMP1 p.Tyr68His Uncertain significance Single submitter
-
EFEMP1 p.Val112Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Val213Leu Uncertain significance Single submitter
- EFEMP1 p.Val253Ile Uncertain significance Single submitter
- EFEMP1 p.Val253Leu Uncertain significance Single submitter
- EFEMP1 p.Val445Leu Uncertain significance Single submitter
- EFEMP1 p.Val481Leu Uncertain significance Single submitter
-
EFEMP1 p.Gly115Arg
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 76
The independent predictors disagree with each other — read with care.
-
EFEMP1 p.Ala447Ser
Uncertain significance
Multiple submitters
Doyne honeycomb retinal dystrophy
-
EFEMP1 p.Ala447Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFEMP1 p.Arg194Trp Uncertain significance Multiple submitters
-
EFEMP1 p.Arg345Trp
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
EFEMP1 p.Arg362Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Arg477His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
EFEMP1 p.Gln200His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Gln226His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
EFEMP1 p.Gly100Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Leu455Phe
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
EFEMP1 p.Pro373Leu
Uncertain significance
Multiple submitters
Doyne honeycomb retinal dystrophy
-
EFEMP1 p.Thr109Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFEMP1 p.Thr181Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFEMP1 p.Val170Met Uncertain significance Multiple submitters
-
EFEMP1 p.Val481Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFEMP1 p.Ala161Gly Uncertain significance Single submitter
- EFEMP1 p.Ala4Asp Uncertain significance Single submitter
-
EFEMP1 p.Ala54Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFEMP1 p.Arg140Trp
Conflicting
Single submitter
inherited retinal dystrophy
- EFEMP1 p.Arg141Trp Uncertain significance Single submitter
- EFEMP1 p.Arg156His Uncertain significance Single submitter
- EFEMP1 p.Arg328Ile Uncertain significance Single submitter
- EFEMP1 p.Arg345Gln Uncertain significance Single submitter
- EFEMP1 p.Arg387Leu Uncertain significance Single submitter
- EFEMP1 p.Arg401Pro Uncertain significance Single submitter
- EFEMP1 p.Arg440Gln Uncertain significance Single submitter
- EFEMP1 p.Asn142Lys Uncertain significance Single submitter
- EFEMP1 p.Asn169Asp Uncertain significance Single submitter
- EFEMP1 p.Asn183Tyr Uncertain significance Single submitter
- EFEMP1 p.Asn432Ser Uncertain significance Single submitter
- EFEMP1 p.Asp187Glu Uncertain significance Single submitter
- EFEMP1 p.Gln238His Uncertain significance Single submitter
- EFEMP1 p.Gln325Lys Uncertain significance Single submitter
- EFEMP1 p.Gln391Pro Uncertain significance Single submitter
- EFEMP1 p.Gln86Arg Uncertain significance Single submitter
-
EFEMP1 p.Glu374Gln
Uncertain significance
Single submitter
Doyne honeycomb retinal dystrophy
- EFEMP1 p.Gly356Ser Uncertain significance Single submitter
-
EFEMP1 p.Gly474Arg
Conflicting
Single submitter
inherited retinal dystrophy
- EFEMP1 p.His182Asp Uncertain significance Single submitter
- EFEMP1 p.His354Arg Uncertain significance Single submitter
-
EFEMP1 p.His461Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFEMP1 p.Ile276Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Ile295Thr Uncertain significance Single submitter
- EFEMP1 p.Ile393Thr Uncertain significance Single submitter
- EFEMP1 p.Ile393Val Uncertain significance Single submitter
- EFEMP1 p.Ile400Val Uncertain significance Single submitter
- EFEMP1 p.Leu113Phe Uncertain significance Single submitter
- EFEMP1 p.Leu304Val Uncertain significance Single submitter
-
EFEMP1 p.Met107Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Met398Thr Uncertain significance Single submitter
- EFEMP1 p.Pro232Arg Uncertain significance Single submitter
- EFEMP1 p.Pro232Gln Uncertain significance Single submitter
-
EFEMP1 p.Pro72Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Ser106Arg Uncertain significance Single submitter
- EFEMP1 p.Ser106Ile Uncertain significance Single submitter
- EFEMP1 p.Ser121Arg Uncertain significance Single submitter
-
EFEMP1 p.Ser286Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Ser471Asn Uncertain significance Single submitter
- EFEMP1 p.Ser472Gly Uncertain significance Single submitter
- EFEMP1 p.Thr11Ile Uncertain significance Single submitter
-
EFEMP1 p.Thr27Met
Uncertain significance
Single submitter
Inborn genetic diseases
- EFEMP1 p.Thr372Ile Uncertain significance Single submitter
- EFEMP1 p.Thr425Ile Uncertain significance Single submitter
- EFEMP1 p.Thr478Ile Uncertain significance Single submitter
- EFEMP1 p.Thr478Pro Uncertain significance Single submitter
- EFEMP1 p.Thr94Asn Uncertain significance Single submitter
- EFEMP1 p.Thr98Ile Uncertain significance Single submitter
- EFEMP1 p.Tyr307His Uncertain significance Single submitter
- EFEMP1 p.Tyr395His Uncertain significance Single submitter
- EFEMP1 p.Val102Ile Uncertain significance Single submitter
- EFEMP1 p.Val112Met Uncertain significance Single submitter
- EFEMP1 p.Val229Met Uncertain significance Single submitter
- EFEMP1 p.Val406Met Uncertain significance Single submitter
-
EFEMP1 p.Asn80Tyr
Pathogenic
No assertion criteria
Glaucoma 1, open angle, H
-
EFEMP1 p.Glu21Lys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
- EFEMP1 p.Thr485Ile Uncertain significance No assertion criteria
All EFEMP1 variants
Pathogenic 8
- p.Arg401Ter Single submitter cutis laxa
- p.Asp53fs Single submitter
- p.Cys201Ter Single submitter
- p.Met107fs Single submitter Accelerated skeletal maturation
- p.Pro232fs Single submitter
- p.Ter494Gln Single submitter juvenile open angle glaucoma
- p.Tyr205Ter Single submitter Accelerated skeletal maturation
- p.Asn80Tyr No assertion criteria Glaucoma 1, open angle, H ⚠
Pathogenic/Likely pathogenic 2
- p.Arg345Trp Multiple submitters inherited retinal dystrophy ⚠
- p.Asp296fs Multiple submitters EFEMP1-related disorder
Likely pathogenic 4
- p.Arg362Ter Single submitter EFEMP1-related connective tissue condition
- p.Arg477Cys Single submitter Glaucoma 1, open angle, H
- p.Gln41Ter Single submitter connective tissue disorder
- p.Tyr397His Single submitter night blindness
Conflicting classifications of pathogenicity 10
- c.761-8T>C Single submitter
- p.Arg134Gln Single submitter Inborn genetic diseases ⚠
- p.Arg140Trp Single submitter inherited retinal dystrophy ⚠
- p.Asp175= Single submitter Doyne honeycomb retinal dystrophy
- p.Asp49Ala Single submitter Doyne honeycomb retinal dystrophy ⚠
- p.Gly474Arg Single submitter inherited retinal dystrophy ⚠
- p.His354= Single submitter Doyne honeycomb retinal dystrophy
- p.Ile45Thr Single submitter Doyne honeycomb retinal dystrophy ⚠
- p.Ser471= Single submitter Doyne honeycomb retinal dystrophy
- p.Tyr65= Single submitter Doyne honeycomb retinal dystrophy
Benign 54
- c.1000+19del Multiple submitters Doyne honeycomb retinal dystrophy
- c.1000+62A>G Multiple submitters
- c.1001-14C>T Multiple submitters Doyne honeycomb retinal dystrophy
- c.130+84T>C Multiple submitters
- c.1321-25C>T Multiple submitters
- c.518-11G>A Multiple submitters Doyne honeycomb retinal dystrophy
- c.518-13A>G Multiple submitters Doyne honeycomb retinal dystrophy
- c.640+58C>T Multiple submitters
- c.761-28TA[8] Multiple submitters
- c.81+20G>C Multiple submitters Doyne honeycomb retinal dystrophy
- c.880+76A>G Multiple submitters
- c.881-81A>G Multiple submitters
- c.-16T>A Multiple submitters Doyne honeycomb retinal dystrophy
- c.-52A>G Multiple submitters Doyne honeycomb retinal dystrophy
- c.-60G>A Multiple submitters Doyne honeycomb retinal dystrophy
- c.-67G>A Multiple submitters Doyne honeycomb retinal dystrophy
- c.-88C>T Multiple submitters Doyne honeycomb retinal dystrophy
- c.*1004C>G Multiple submitters Doyne honeycomb retinal dystrophy
- c.*168A>G Multiple submitters Doyne honeycomb retinal dystrophy
- p.Arg387Gln Multiple submitters Doyne honeycomb retinal dystrophy
- p.Glu129= Multiple submitters Doyne honeycomb retinal dystrophy
- p.Glu82= Multiple submitters Doyne honeycomb retinal dystrophy
- p.Leu69= Multiple submitters Doyne honeycomb retinal dystrophy
- c.1000+10dup Single submitter
- c.1000+255C>A Single submitter
- c.1001-19T>C Single submitter
- c.1001-311C>G Single submitter
- c.130+3G>A Single submitter
- c.131-16T>C Single submitter
- c.1320+144T>C Single submitter
- c.1320+47TGT[9] Single submitter
- c.1321-210del Single submitter
- c.1321-223dup Single submitter
- c.761-199T>A Single submitter
- c.761-28TA[6] Single submitter
- c.761-28TA[9] Single submitter
- c.761-4del Single submitter
- c.82-139A>G Single submitter
- c.881-270A>G Single submitter
- c.881-76AT[9] Single submitter
- c.-105C>T Single submitter Doyne honeycomb retinal dystrophy
- c.*1026C>T Single submitter Doyne honeycomb retinal dystrophy
- c.*1063G>A Single submitter Doyne honeycomb retinal dystrophy
- c.*248A>C Single submitter Doyne honeycomb retinal dystrophy
- c.*507C>T Single submitter Doyne honeycomb retinal dystrophy
- c.*649C>T Single submitter Doyne honeycomb retinal dystrophy
- c.*668C>T Single submitter Doyne honeycomb retinal dystrophy
- c.*687T>C Single submitter Doyne honeycomb retinal dystrophy
- c.*695T>C Single submitter Doyne honeycomb retinal dystrophy
- c.*800C>T Single submitter Doyne honeycomb retinal dystrophy
- c.*962C>A Single submitter Doyne honeycomb retinal dystrophy
- p.Asp53= Single submitter
- p.Thr181= Single submitter
- p.Thr99= Single submitter
Benign/Likely benign 4
- c.640+6T>C Multiple submitters Doyne honeycomb retinal dystrophy
- c.-64C>T Multiple submitters Doyne honeycomb retinal dystrophy
- c.*6del Multiple submitters inherited retinal dystrophy
- p.Tyr163= Multiple submitters Doyne honeycomb retinal dystrophy
Likely benign 124
- p.Ala122= Multiple submitters
- p.Gln244= Multiple submitters Doyne honeycomb retinal dystrophy
- p.Ile462= Multiple submitters Doyne honeycomb retinal dystrophy
- p.Val327= Multiple submitters Doyne honeycomb retinal dystrophy
- c.1000+12T>C Single submitter
- c.1000+18T>A Single submitter
- c.1000+19T>C Single submitter
- c.1000+9A>T Single submitter
- c.1001-10A>G Single submitter
- c.1001-12A>G Single submitter
- c.1001-13T>C Single submitter
- c.1001-20T>A Single submitter
- c.1124+13A>G Single submitter
- c.1124+18T>C Single submitter
- c.1125-14G>C Single submitter
- c.1125-16T>G Single submitter
- c.1125-4G>A Single submitter
- c.1125-5T>G Single submitter
- c.1125-6C>G Single submitter inherited retinal dystrophy
- c.130+18A>G Single submitter
- c.131-14A>G Single submitter
- c.131-17T>G Single submitter
- c.131-6C>T Single submitter
- c.1320+19G>C Single submitter
- c.1321-17A>G Single submitter
- c.1321-19C>T Single submitter
- c.1321-8T>C Single submitter
- c.1321-9T>C Single submitter
- c.517+14A>G Single submitter
- c.517+16T>G Single submitter
- c.518-13A>C Single submitter
- c.518-14C>A Single submitter
- c.518-15G>A Single submitter
- c.518-18_518-17del Single submitter
- c.640+16C>T Single submitter
- c.640+18G>A Single submitter
- c.640+9C>T Single submitter
- c.641-10G>A Single submitter
- c.641-14G>C Single submitter
- c.641-16G>A Single submitter
- c.641-5C>A Single submitter
- c.760+14G>A Single submitter
- c.760+20G>A Single submitter
- c.761-13_761-12insAT Single submitter
- c.761-14A>T Single submitter
- c.761-16T>A Single submitter
- c.761-17_761-16insAC Single submitter
- c.761-19A>G Single submitter
- c.761-28TA[10] Single submitter
- c.82-13G>A Single submitter
- c.82-16G>C Single submitter
- c.880+11T>C Single submitter
- c.880+20G>A Single submitter
- c.880+7C>T Single submitter
- c.880+9C>G Single submitter
- c.881-14G>C Single submitter
- c.881-16T>A Single submitter
- c.881-16T>C Single submitter
- c.881-19del Single submitter
- c.881-4A>T Single submitter
- p.Ala13= Single submitter
- p.Ala4= Single submitter
- p.Ala91= Single submitter
- p.Arg345= Single submitter
- p.Asn142= Single submitter
- p.Asn169= Single submitter
- p.Asn230= Single submitter
- p.Asn280= Single submitter
- p.Asp259= Single submitter
- p.Asp31= Single submitter
- p.Asp409= Single submitter
- p.Cys177= Single submitter
- p.Cys212= Single submitter
- p.Cys252= Single submitter
- p.Cys318= Single submitter
- p.Cys350= Single submitter
- p.Cys359= Single submitter
- p.Gln211= Single submitter
- p.Gln263= Single submitter
- p.Gln267= Single submitter
- p.Gln308= Single submitter
- p.Gln325= Single submitter
- p.Glu176= Single submitter
- p.Gly116Ser Single submitter
- p.Gly233= Single submitter
- p.Gly474= Single submitter
- p.His155= Single submitter
- p.Ile428= Single submitter
- p.Leu113= Single submitter
- p.Leu245= Single submitter
- p.Leu455= Single submitter
- p.Leu484= Single submitter
- p.Phe316= Single submitter
- p.Phe357= Single submitter
- p.Phe493= Single submitter
- p.Phe6= Single submitter
- p.Phe6Leu Single submitter
- p.Pro114= Single submitter
- p.Pro232= Single submitter
- p.Pro368= Single submitter
- p.Pro373= Single submitter
- p.Pro458= Single submitter
- p.Pro490= Single submitter
- p.Pro72= Single submitter
- p.Ser166= Single submitter
- p.Ser261= Single submitter
- p.Ser402= Single submitter
- p.Ser456= Single submitter
- p.Thr109= Single submitter
- p.Thr20= Single submitter
- p.Thr231= Single submitter
- p.Thr372= Single submitter
- p.Thr425= Single submitter
- p.Thr98= Single submitter
- p.Tyr223= Single submitter
- p.Tyr307= Single submitter
- p.Tyr353= Single submitter
- p.Tyr397= Single submitter
- p.Val125= Single submitter
- p.Val189= Single submitter
- p.Val326= Single submitter
- p.Val381= Single submitter
- p.Val450= Single submitter
- p.Val51= Single submitter
Uncertain significance 199
- p.Ala126Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala447Ser Multiple submitters Doyne honeycomb retinal dystrophy ⚠
- p.Ala447Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg194Gln Multiple submitters ⚠
- p.Arg194Trp Multiple submitters ⚠
- p.Arg208Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg362Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg401Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg477His Multiple submitters inherited retinal dystrophy ⚠
- p.Asn80Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln200His Multiple submitters Inborn genetic diseases ⚠
- p.Gln226His Multiple submitters inherited retinal dystrophy ⚠
- p.Gly100Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly58Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile400Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile473Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu451Phe Multiple submitters ⚠
- p.Leu455Phe Multiple submitters inherited retinal dystrophy ⚠
- p.Lys16Gln Multiple submitters Inborn genetic diseases ⚠
- p.Met130Thr Multiple submitters Glaucoma 1, open angle, H ⚠
- p.Pro128Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro373Leu Multiple submitters Doyne honeycomb retinal dystrophy ⚠
- p.Thr109Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr181Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr98Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val170Met Multiple submitters ⚠
- p.Val213Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val452Met Multiple submitters Inborn genetic diseases ⚠
- p.Val481Met Multiple submitters Inborn genetic diseases ⚠
- c.1000+3A>G Single submitter
- c.1001-9T>C Single submitter
- c.117_130+5dup Single submitter
- c.517+3A>G Single submitter
- c.517+5G>A Single submitter
- c.761-26_761-13del Single submitter
- c.82-3C>T Single submitter
- c.881-13_881-12delinsAT Single submitter
- c.881-3C>T Single submitter
- c.*1088A>C Single submitter Doyne honeycomb retinal dystrophy
- c.*146T>A Single submitter Doyne honeycomb retinal dystrophy
- c.*152G>A Single submitter Doyne honeycomb retinal dystrophy
- c.*182G>C Single submitter Doyne honeycomb retinal dystrophy
- c.*349A>T Single submitter Doyne honeycomb retinal dystrophy
- c.*946T>C Single submitter Doyne honeycomb retinal dystrophy
- p.Ala104Ser Single submitter ⚠
- p.Ala104Thr Single submitter ⚠
- p.Ala122Pro Single submitter ⚠
- p.Ala126Thr Single submitter Inborn genetic diseases ⚠
- p.Ala144Gly Single submitter ⚠
- p.Ala161Gly Single submitter ⚠
- p.Ala247Thr Single submitter Inborn genetic diseases ⚠
- p.Ala260Thr Single submitter ⚠
- p.Ala4Asp Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Ala54Val Single submitter Inborn genetic diseases ⚠
- p.Ala97Thr Single submitter ⚠
- p.Arg134Ter Single submitter
- p.Arg140Gln Single submitter ⚠
- p.Arg141Trp Single submitter ⚠
- p.Arg148His Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg185Gly Single submitter ⚠
- p.Arg208Ter Single submitter
- p.Arg328Ile Single submitter ⚠
- p.Arg345Gln Single submitter ⚠
- p.Arg358Cys Single submitter Inborn genetic diseases ⚠
- p.Arg387Leu Single submitter ⚠
- p.Arg401Pro Single submitter ⚠
- p.Arg440Gln Single submitter ⚠
- p.Arg440Ter Single submitter
- p.Asn142Lys Single submitter ⚠
- p.Asn169Asp Single submitter ⚠
- p.Asn169Lys Single submitter ⚠
- p.Asn183Tyr Single submitter ⚠
- p.Asn248Lys Single submitter ⚠
- p.Asn262Ser Single submitter ⚠
- p.Asn432Ser Single submitter ⚠
- p.Asn63Thr Single submitter ⚠
- p.Asn81Ser Single submitter Inborn genetic diseases ⚠
- p.Asp175Asn Single submitter ⚠
- p.Asp187Glu Single submitter ⚠
- p.Asp214Glu Single submitter ⚠
- p.Asp259Val Single submitter ⚠
- p.Asp46Ala Single submitter Inborn genetic diseases ⚠
- p.Cys190Arg Single submitter ⚠
- p.Cys55Arg Single submitter cutis laxa, autosomal recessive, type 1d ⚠
- p.Gln131His Single submitter ⚠
- p.Gln147Arg Single submitter ⚠
- p.Gln188His Single submitter ⚠
- p.Gln211Glu Single submitter ⚠
- p.Gln238His Single submitter ⚠
- p.Gln325Lys Single submitter ⚠
- p.Gln391Pro Single submitter ⚠
- p.Gln40Lys Single submitter ⚠
- p.Gln86Arg Single submitter ⚠
- p.Gln89Glu Single submitter ⚠
- p.Glu176Lys Single submitter ⚠
- p.Glu284Asp Single submitter ⚠
- p.Glu293Lys Single submitter ⚠
- p.Glu374Gln Single submitter Doyne honeycomb retinal dystrophy ⚠
- p.Gly111del Single submitter
- p.Gly127Asp Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly355Ser Single submitter ⚠
- p.Gly356Ser Single submitter ⚠
- p.Gly435Arg Single submitter ⚠
- p.His168Tyr Single submitter ⚠
- p.His182Asp Single submitter ⚠
- p.His354Arg Single submitter ⚠
- p.His461Arg Single submitter Inborn genetic diseases ⚠
- p.Ile139Val Single submitter ⚠
- p.Ile149Val Single submitter ⚠
- p.Ile157Phe Single submitter ⚠
- p.Ile174Val Single submitter ⚠
- p.Ile191Val Single submitter ⚠
- p.Ile215Thr Single submitter ⚠
- p.Ile220Phe Single submitter ⚠
- p.Ile220Val Single submitter ⚠
- p.Ile24Val Single submitter Inborn genetic diseases ⚠
- p.Ile271Val Single submitter ⚠
- p.Ile276Phe Single submitter Inborn genetic diseases ⚠
- p.Ile295Thr Single submitter ⚠
- p.Ile393Thr Single submitter ⚠
- p.Ile393Val Single submitter ⚠
- p.Ile400Val Single submitter ⚠
- p.Ile462Thr Single submitter ⚠
- p.Ile473Thr Single submitter ⚠
- p.Ile50Val Single submitter ⚠
- p.Ile77Phe Single submitter ⚠
- p.Leu113Phe Single submitter ⚠
- p.Leu304Val Single submitter ⚠
- p.Leu389Met Single submitter ⚠
- p.Leu451= Single submitter Doyne honeycomb retinal dystrophy
- p.Leu5fs Single submitter
- p.Leu5Ile Single submitter ⚠
- p.Met107Ile Single submitter ⚠
- p.Met107Lys Single submitter Inborn genetic diseases ⚠
- p.Met130Val Single submitter ⚠
- p.Met349Ile Single submitter ⚠
- p.Met385Ile Single submitter ⚠
- p.Met385Leu Single submitter ⚠
- p.Met398Thr Single submitter ⚠
- p.Met448Val Single submitter ⚠
- p.Pro203Ser Single submitter ⚠
- p.Pro232Arg Single submitter ⚠
- p.Pro232Gln Single submitter ⚠
- p.Pro241Ser Single submitter ⚠
- p.Pro321= Single submitter Doyne honeycomb retinal dystrophy
- p.Pro390Leu Single submitter ⚠
- p.Pro458Arg Single submitter ⚠
- p.Pro72Leu Single submitter Inborn genetic diseases ⚠
- p.Ser106Arg Single submitter ⚠
- p.Ser106Ile Single submitter ⚠
- p.Ser121Arg Single submitter ⚠
- p.Ser154Phe Single submitter ⚠
- p.Ser286Asn Single submitter Inborn genetic diseases ⚠
- p.Ser287Gly Single submitter ⚠
- p.Ser329Asn Single submitter ⚠
- p.Ser471Asn Single submitter ⚠
- p.Ser472Gly Single submitter ⚠
- p.Ser479Arg Single submitter ⚠
- p.Ser492Leu Single submitter Inborn genetic diseases ⚠
- p.Ter494Tyr Single submitter
- p.Thr11Ile Single submitter ⚠
- p.Thr178Ala Single submitter ⚠
- p.Thr219Ser Single submitter ⚠
- p.Thr231Ile Single submitter ⚠
- p.Thr27= Single submitter
- p.Thr27Met Single submitter Inborn genetic diseases ⚠
- p.Thr372Ile Single submitter ⚠
- p.Thr422Ile Single submitter ⚠
- p.Thr425Ile Single submitter ⚠
- p.Thr425Ser Single submitter ⚠
- p.Thr469= Single submitter
- p.Thr478Ile Single submitter ⚠
- p.Thr478Pro Single submitter ⚠
- p.Thr94Asn Single submitter ⚠
- p.Thr98Ile Single submitter ⚠
- p.Tyr163Cys Single submitter ⚠
- p.Tyr307His Single submitter ⚠
- p.Tyr369His Single submitter ⚠
- p.Tyr395His Single submitter ⚠
- p.Tyr68His Single submitter ⚠
- p.Val102Ile Single submitter ⚠
- p.Val112Ala Single submitter Inborn genetic diseases ⚠
- p.Val112Met Single submitter ⚠
- p.Val213Leu Single submitter ⚠
- p.Val229Met Single submitter ⚠
- p.Val253Ile Single submitter ⚠
- p.Val253Leu Single submitter ⚠
- p.Val406Met Single submitter ⚠
- p.Val445Leu Single submitter ⚠
- p.Val470= Single submitter
- p.Val481Leu Single submitter ⚠
- c.761-9T>C No assertion criteria inherited retinal dystrophy
- p.Glu21Lys No assertion criteria inherited retinal dystrophy ⚠
- p.Gly115Arg No assertion criteria inherited retinal dystrophy ⚠
- p.Thr485Ile No assertion criteria ⚠