TTLL5 — 1184 ClinVar variants
All ClinVar germline TTLL5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 572 flagged for review →
56 Pathogenic · 17 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 33 Conflicting · 32 Benign · 23 Benign/Likely benign · 388 Likely benign · 605 Uncertain significance
Full TTLL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 572
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 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TTLL5 p.Ala1223Thr Conflicting Single submitter
-
TTLL5 p.Ala1251Val
Conflicting
Single submitter
Inborn genetic diseases
- TTLL5 p.Ala164Thr Conflicting Single submitter
-
TTLL5 p.Arg174Gln
Conflicting
Single submitter
Inborn genetic diseases
-
TTLL5 p.Arg209Cys
Conflicting
Single submitter
TTLL5-related disorder
-
TTLL5 p.Arg409Gln
Conflicting
Single submitter
cone-rod dystrophy 19
- TTLL5 p.Arg478Trp Conflicting Single submitter
- TTLL5 p.Arg638Cys Conflicting Single submitter
- TTLL5 p.Arg717His Conflicting Single submitter
- TTLL5 p.Arg964Gln Conflicting Single submitter
-
TTLL5 p.Gln1026Pro
Conflicting
Single submitter
Inborn genetic diseases
-
TTLL5 p.Glu1234Lys
Conflicting
Single submitter
Inborn genetic diseases
-
TTLL5 p.Glu203Asp
Conflicting
Single submitter
Inborn genetic diseases
-
TTLL5 p.Gly1253Ala
Conflicting
Single submitter
Inborn genetic diseases
-
TTLL5 p.His1140Arg
Conflicting
Single submitter
Inborn genetic diseases
-
TTLL5 p.Met505Val
Conflicting
Single submitter
inherited retinal dystrophy
-
TTLL5 p.Thr889Ala
Conflicting
Single submitter
Inborn genetic diseases
- TTLL5 p.Val1268Ala Conflicting Single submitter
- TTLL5 p.Val224Met Conflicting Single submitter
-
TTLL5 p.Val443Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 446
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 446
-
TTLL5 p.Ala1042Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Ala1175Ser Uncertain significance Multiple submitters
- TTLL5 p.Ala164Val Uncertain significance Multiple submitters
- TTLL5 p.Ala312Thr Uncertain significance Multiple submitters
- TTLL5 p.Ala437Val Uncertain significance Multiple submitters
-
TTLL5 p.Ala446Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Ala523Val Uncertain significance Multiple submitters
-
TTLL5 p.Arg1023Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg1023Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg1035Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg111His Uncertain significance Multiple submitters
-
TTLL5 p.Arg111Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg1163Gln Uncertain significance Multiple submitters
-
TTLL5 p.Arg1172Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg1172Trp Uncertain significance Multiple submitters
-
TTLL5 p.Arg130Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg130Trp Uncertain significance Multiple submitters
-
TTLL5 p.Arg133Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg140Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg188Trp Uncertain significance Multiple submitters
- TTLL5 p.Arg209Leu Uncertain significance Multiple submitters
- TTLL5 p.Arg225His Uncertain significance Multiple submitters
-
TTLL5 p.Arg405Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg405Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg409Trp Uncertain significance Multiple submitters
-
TTLL5 p.Arg419Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg420Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg428His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg430Cys Uncertain significance Multiple submitters
- TTLL5 p.Arg430His Uncertain significance Multiple submitters
-
TTLL5 p.Arg447Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg447Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg447Trp Uncertain significance Multiple submitters
- TTLL5 p.Arg484His Uncertain significance Multiple submitters
-
TTLL5 p.Arg554Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg556Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg556Gly Uncertain significance Multiple submitters
-
TTLL5 p.Arg612Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg71Gln Uncertain significance Multiple submitters
-
TTLL5 p.Arg737Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg744Cys Uncertain significance Multiple submitters
- TTLL5 p.Arg744His Uncertain significance Multiple submitters
-
TTLL5 p.Arg745Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg78Cys Uncertain significance Multiple submitters
-
TTLL5 p.Arg78His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg962Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- TTLL5 p.Arg989His Uncertain significance Multiple submitters
-
TTLL5 p.Asn1052His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Asn194Ser Uncertain significance Multiple submitters
-
TTLL5 p.Asn476Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Asn578Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Asn897Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Asp1095Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Asp18Gly Uncertain significance Multiple submitters
-
TTLL5 p.Asp283Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Asp357Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Asp597Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Asp833His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Asp864Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Cys429Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Gln1097Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Gln117Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Gln155Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Gln573Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Gln920His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Gln977Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Glu1123Gln Uncertain significance Multiple submitters
-
TTLL5 p.Glu17Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Glu329Gly Uncertain significance Multiple submitters
- TTLL5 p.Glu606Lys Uncertain significance Multiple submitters
-
TTLL5 p.Glu786Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- TTLL5 p.Glu876Gln Uncertain significance Multiple submitters
-
TTLL5 p.Gly1132Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Gly1195Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Gly35Ser Uncertain significance Multiple submitters
-
TTLL5 p.Gly697Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.His121Tyr Uncertain significance Multiple submitters
-
TTLL5 p.His266Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.His686Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.His87Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ile1007Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ile1007Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ile138Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ile199Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ile757Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ile970Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Leu1053Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Leu1054Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Leu1166Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Leu1237Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Leu1258Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Leu1262Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Leu313Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Leu739Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Leu908Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Leu9Val Uncertain significance Multiple submitters
-
TTLL5 p.Lys1214Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Lys258Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Lys323Gln Uncertain significance Multiple submitters
-
TTLL5 p.Lys636Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Met299Val Uncertain significance Multiple submitters
-
TTLL5 p.Met31Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Met564Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Met635Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Met785Thr Uncertain significance Multiple submitters
-
TTLL5 p.Met99Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Phe122Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Phe700Leu Uncertain significance Multiple submitters
- TTLL5 p.Pro1231Ser Uncertain significance Multiple submitters
-
TTLL5 p.Pro1269Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Pro181Ala Uncertain significance Multiple submitters
-
TTLL5 p.Pro196Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Pro431Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Pro657Ser Uncertain significance Multiple submitters
-
TTLL5 p.Pro926Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ser1049Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ser1260Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ser1260Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ser14Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ser171Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Ser386Gly Uncertain significance Multiple submitters
-
TTLL5 p.Ser435Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ser530Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Ser703Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Ser834Ile Uncertain significance Multiple submitters
- TTLL5 p.Ser92Gly Uncertain significance Multiple submitters
- TTLL5 p.Ser997Leu Uncertain significance Multiple submitters
- TTLL5 p.Thr1142Ile Uncertain significance Multiple submitters
- TTLL5 p.Thr144Ile Uncertain significance Multiple submitters
-
TTLL5 p.Thr408Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Thr488Ala Uncertain significance Multiple submitters
-
TTLL5 p.Thr858Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Tyr1146Cys Uncertain significance Multiple submitters
-
TTLL5 p.Tyr126Ser
Uncertain significance
Multiple submitters
cone-rod dystrophy 19
- TTLL5 p.Tyr290Phe Uncertain significance Multiple submitters
-
TTLL5 p.Tyr507Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Tyr618His Uncertain significance Multiple submitters
- TTLL5 p.Val1126Met Uncertain significance Multiple submitters
- TTLL5 p.Val119Ile Uncertain significance Multiple submitters
-
TTLL5 p.Val1236Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Val190Ile Uncertain significance Multiple submitters
- TTLL5 p.Val354Met Uncertain significance Multiple submitters
-
TTLL5 p.Val367Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Val58Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Ala1017Thr Uncertain significance Single submitter
- TTLL5 p.Ala1064Thr Uncertain significance Single submitter
-
TTLL5 p.Ala1201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TTLL5 p.Ala1201Val Uncertain significance Single submitter
- TTLL5 p.Ala1251Thr Uncertain significance Single submitter
- TTLL5 p.Ala1265Val Uncertain significance Single submitter
Predictors split 106
The independent predictors disagree with each other — read with care.
-
TTLL5 p.Ala328Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Ala377Val Uncertain significance Multiple submitters
-
TTLL5 p.Arg1163Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg174Trp Uncertain significance Multiple submitters
-
TTLL5 p.Arg261Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Arg343Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg343His Uncertain significance Multiple submitters
- TTLL5 p.Arg478Gln Uncertain significance Multiple submitters
-
TTLL5 p.Arg512Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
TTLL5 p.Arg557Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Arg62Cys Uncertain significance Multiple submitters
- TTLL5 p.Arg690Cys Uncertain significance Multiple submitters
-
TTLL5 p.Arg75His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Asn213Lys Uncertain significance Multiple submitters
-
TTLL5 p.Asp284Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Asp53Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Glu543Lys
Pathogenic
Multiple submitters
TTLL5-related disorder
- TTLL5 p.Glu61Lys Uncertain significance Multiple submitters
- TTLL5 p.Leu153His Uncertain significance Multiple submitters
- TTLL5 p.Leu201Gln Uncertain significance Multiple submitters
-
TTLL5 p.Leu330Gln
Uncertain significance
Multiple submitters
Reduced sperm motility
- TTLL5 p.Leu355Val Uncertain significance Multiple submitters
-
TTLL5 p.Leu665Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Phe680Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Pro176Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Pro196Ala Uncertain significance Multiple submitters
-
TTLL5 p.Thr334Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Tyr507Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Tyr96Cys Uncertain significance Multiple submitters
-
TTLL5 p.Val70Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TTLL5 p.Val715Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TTLL5 p.Ala434Val Uncertain significance Single submitter
- TTLL5 p.Ala48Asp Uncertain significance Single submitter
- TTLL5 p.Arg124Lys Uncertain significance Single submitter
- TTLL5 p.Arg174Pro Uncertain significance Single submitter
- TTLL5 p.Arg209His Uncertain significance Single submitter
-
TTLL5 p.Arg343Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TTLL5 p.Arg38Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TTLL5 p.Arg430Gly Uncertain significance Single submitter
- TTLL5 p.Arg470Gln Uncertain significance Single submitter
-
TTLL5 p.Arg677Gln
Conflicting
Single submitter
TTLL5-related disorder
-
TTLL5 p.Arg71Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TTLL5 p.Arg721Gln Uncertain significance Single submitter
-
TTLL5 p.Arg745Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TTLL5 p.Arg75Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TTLL5 p.Asn204Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TTLL5 p.Asp289Asn Uncertain significance Single submitter
- TTLL5 p.Asp319Glu Uncertain significance Single submitter
- TTLL5 p.Asp401Gly Uncertain significance Single submitter
- TTLL5 p.Asp47Tyr Uncertain significance Single submitter
- TTLL5 p.Asp73Gly Uncertain significance Single submitter
- TTLL5 p.Asp8His Uncertain significance Single submitter
- TTLL5 p.Cys167Tyr Uncertain significance Single submitter
- TTLL5 p.Cys29Tyr Uncertain significance Single submitter
- TTLL5 p.Cys399Trp Uncertain significance Single submitter
-
TTLL5 p.Gln1154Pro
Conflicting
Single submitter
Inborn genetic diseases
- TTLL5 p.Gln1158His Uncertain significance Single submitter
-
TTLL5 p.Gln198His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TTLL5 p.Gln751Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TTLL5 p.Glu286Lys Uncertain significance Single submitter
-
TTLL5 p.Glu329Asp
Uncertain significance
Single submitter
cone-rod dystrophy 19
- TTLL5 p.Gly34Arg Uncertain significance Single submitter
- TTLL5 p.Gly481Ala Uncertain significance Single submitter
-
TTLL5 p.His145Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TTLL5 p.His501Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TTLL5 p.Ile485Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- TTLL5 p.Leu1033Arg Uncertain significance Single submitter
- TTLL5 p.Leu158Phe Uncertain significance Single submitter
- TTLL5 p.Leu226Phe Uncertain significance Single submitter
- TTLL5 p.Leu313Phe Uncertain significance Single submitter
- TTLL5 p.Leu546Pro Uncertain significance Single submitter
- TTLL5 p.Leu726Phe Uncertain significance Single submitter
- TTLL5 p.Leu81Val Uncertain significance Single submitter
- TTLL5 p.Lys502Asn Uncertain significance Single submitter
- TTLL5 p.Lys545Met Uncertain significance Single submitter
- TTLL5 p.Met296Val Uncertain significance Single submitter
- TTLL5 p.Met314Val Uncertain significance Single submitter
-
TTLL5 p.Met463Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TTLL5 p.Phe415Leu Uncertain significance Single submitter
-
TTLL5 p.Phe423Leu
Conflicting
Single submitter
Inborn genetic diseases
-
TTLL5 p.Phe486Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TTLL5 p.Phe755Leu Uncertain significance Single submitter
- TTLL5 p.Pro107Ala Uncertain significance Single submitter
- TTLL5 p.Pro107Thr Uncertain significance Single submitter
-
TTLL5 p.Pro285Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TTLL5 p.Ser171Trp Uncertain significance Single submitter
- TTLL5 p.Ser345Gly Uncertain significance Single submitter
- TTLL5 p.Ser548Pro Uncertain significance Single submitter
- TTLL5 p.Ser672Asn Uncertain significance Single submitter
- TTLL5 p.Ser93Thr Uncertain significance Single submitter
-
TTLL5 p.Thr112Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TTLL5 p.Thr310Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TTLL5 p.Thr334Ile Uncertain significance Single submitter
- TTLL5 p.Thr338Ile Uncertain significance Single submitter
- TTLL5 p.Thr805Asn Uncertain significance Single submitter
- TTLL5 p.Trp1188Arg Conflicting Single submitter
- TTLL5 p.Trp32Arg Uncertain significance Single submitter
- TTLL5 p.Tyr241His Uncertain significance Single submitter
- TTLL5 p.Tyr542Asp Uncertain significance Single submitter
- TTLL5 p.Tyr683Cys Uncertain significance Single submitter
- TTLL5 p.Tyr807Ser Uncertain significance Single submitter
- TTLL5 p.Val224Leu Uncertain significance Single submitter
- TTLL5 p.Val280Ala Uncertain significance Single submitter
- TTLL5 p.Val287Ala Uncertain significance Single submitter
- TTLL5 p.Val287Met Uncertain significance Single submitter
- TTLL5 p.Val468Gly Uncertain significance Single submitter
All TTLL5 variants
Pathogenic 56
- p.Arg677Ter Multiple submitters TTLL5-related disorder
- p.Arg964Ter Multiple submitters cone-rod dystrophy 19
- p.Asp521Ter Multiple submitters central areolar choroidal dystrophy
- p.Glu543Lys Multiple submitters TTLL5-related disorder ⚠
- p.Glu543Ter Multiple submitters cone-rod dystrophy 19
- p.Ser389Ter Multiple submitters cone-rod dystrophy 19
- p.Trp32Ter Multiple submitters cone-rod dystrophy 19
- p.Trp640Ter Multiple submitters TTLL5-related disorder
- c.1186+1del Single submitter
- c.1282-2A>G Single submitter
- c.1550+2T>C Single submitter cone-rod dystrophy
- c.264+1G>A Single submitter
- p.Ala1171fs Single submitter
- p.Arg1080Ter Single submitter
- p.Arg174fs Single submitter
- p.Arg552Ter Single submitter TTLL5-related disorder
- p.Arg738Ter Single submitter
- p.Arg868Ter Single submitter
- p.Asn137fs Single submitter
- p.Asp754fs Single submitter
- p.Cys963fs Single submitter
- p.Gln1034Ter Single submitter
- p.Gln1254Ter Single submitter
- p.Gln263fs Single submitter
- p.Gln424Ter Single submitter
- p.Gln604fs Single submitter
- p.Gln663Ter Single submitter
- p.Gln675Ter Single submitter
- p.Gln751fs Single submitter
- p.Gln789Ter Single submitter
- p.Glu416fs Single submitter
- p.Glu438Ter Single submitter
- p.Glu529fs Single submitter cone-rod dystrophy
- p.Gly460fs Single submitter
- p.Ile326fs Single submitter
- p.Leu134fs Single submitter cone-rod dystrophy 19
- p.Leu240_Tyr241insTer Single submitter
- p.Lys52fs Single submitter
- p.Lys580Ter Single submitter
- p.Phe1116fs Single submitter
- p.Phe122fs Single submitter
- p.Pro176fs Single submitter
- p.Pro371fs Single submitter
- p.Ser1110fs Single submitter
- p.Ser1185fs Single submitter
- p.Trp363fs Single submitter
- p.Trp492Ter Single submitter
- p.Tyr350fs Single submitter
- p.Tyr881fs Single submitter
- p.Val1133fs Single submitter
- p.Val1134fs Single submitter
- p.Val1215fs Single submitter
- c.1487+1G>A No assertion criteria retinitis pigmentosa
- c.2136+1G>A No assertion criteria retinitis pigmentosa
- p.Met928fs No assertion criteria cone-rod dystrophy 19
- p.Trp1118Ter No assertion criteria cone-rod dystrophy 19
Pathogenic/Likely pathogenic 17
- c.741-1G>A Multiple submitters cone-rod dystrophy
- p.Arg1170Ter Multiple submitters TTLL5-related disorder
- p.Arg188fs Multiple submitters TTLL5-related disorder
- p.Arg420Ter Multiple submitters TTLL5-related disorder
- p.Arg479Ter Multiple submitters TTLL5-related disorder
- p.Arg556Ter Multiple submitters TTLL5-related disorder
- p.Arg71Ter Multiple submitters cone-rod dystrophy
- p.Arg737Ter Multiple submitters
- p.Gln263Ter Multiple submitters TTLL5-related disorder
- p.Glu764fs Multiple submitters TTLL5-related disorder
- p.Glu88fs Multiple submitters TTLL5-related disorder
- p.Gly1115fs Multiple submitters
- p.Gly1195fs Multiple submitters TTLL5-related disorder
- p.Met712fs Multiple submitters TTLL5-related disorder
- p.Phe415fs Multiple submitters TTLL5-related disorder
- p.Tyr210Ter Multiple submitters TTLL5-related disorder
- p.Val190fs Multiple submitters TTLL5-related disorder
Likely pathogenic 30
- c.1488-1G>T Multiple submitters TTLL5-related disorder
- c.182-1G>T Multiple submitters TTLL5-related disorder
- c.2388-2A>G Multiple submitters TTLL5-related disorder
- c.3172-2A>G Multiple submitters TTLL5-related disorder
- c.1125-1G>A Single submitter TTLL5-related disorder
- c.1186+1G>A Single submitter
- c.1186+2T>G Single submitter TTLL5-related disorder
- c.1187-2A>G Single submitter
- c.1396-1G>C Single submitter
- c.1551-2A>G Single submitter
- c.182-5_182-1delinsCTTAT Single submitter cone-rod dystrophy 19
- c.2131_2136+20del Single submitter
- c.2388-1G>C Single submitter
- c.2515+1G>C Single submitter
- c.3522+2T>A Single submitter TTLL5-related disorder
- c.585+2_585+11del Single submitter
- c.75-2A>G Single submitter
- c.842+1G>A Single submitter inherited retinal dystrophy
- p.Ala795fs Single submitter TTLL5-related disorder
- p.Arg470Ter Single submitter TTLL5-related disorder
- p.Gly644fs Single submitter TTLL5-related disorder
- p.His121Ter Single submitter TTLL5-related disorder
- p.Leu866fs Single submitter cone-rod dystrophy 19
- p.Ser1169fs Single submitter
- p.Ser771Ter Single submitter
- p.Thr805fs Single submitter cone-rod dystrophy
- p.Thr938fs Single submitter TTLL5-related disorder
- p.Trp492Arg Single submitter TTLL5-related disorder
- p.Tyr163Ter Single submitter TTLL5-related disorder
- p.Tyr807fs Single submitter TTLL5-related disorder
Conflicting classifications of pathogenicity 33
- c.182-5T>C Single submitter
- c.2602+1G>A Single submitter
- c.2603-4A>G Single submitter cone-rod dystrophy 19
- c.2987-4G>T Single submitter
- p.Ala1223Thr Single submitter ⚠
- p.Ala1251Val Single submitter Inborn genetic diseases ⚠
- p.Ala164Thr Single submitter ⚠
- p.Arg174Gln Single submitter Inborn genetic diseases ⚠
- p.Arg209Cys Single submitter TTLL5-related disorder ⚠
- p.Arg247= Single submitter Inborn genetic diseases
- p.Arg409Gln Single submitter cone-rod dystrophy 19 ⚠
- p.Arg478Trp Single submitter ⚠
- p.Arg638Cys Single submitter ⚠
- p.Arg677Gln Single submitter TTLL5-related disorder ⚠
- p.Arg717His Single submitter ⚠
- p.Arg964Gln Single submitter ⚠
- p.Cys167= Single submitter
- p.Gln1026Pro Single submitter Inborn genetic diseases ⚠
- p.Gln1154Pro Single submitter Inborn genetic diseases ⚠
- p.Glu1234Lys Single submitter Inborn genetic diseases ⚠
- p.Glu203Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1253Ala Single submitter Inborn genetic diseases ⚠
- p.His1140Arg Single submitter Inborn genetic diseases ⚠
- p.Met505Val Single submitter inherited retinal dystrophy ⚠
- p.Phe423Leu Single submitter Inborn genetic diseases ⚠
- p.Ser1249fs Single submitter TTLL5-related disorder
- p.Thr1059_Asn1060insTer Single submitter cone-rod dystrophy 19
- p.Thr311= Single submitter
- p.Thr889Ala Single submitter Inborn genetic diseases ⚠
- p.Trp1188Arg Single submitter ⚠
- p.Val1268Ala Single submitter ⚠
- p.Val224Met Single submitter ⚠
- p.Val443Met Single submitter Inborn genetic diseases ⚠
Benign 32
- c.1186+14T>G Multiple submitters
- c.1187-56G>T Multiple submitters
- c.1395+11G>T Multiple submitters
- c.1396-22T>C Multiple submitters
- c.1709-7T>C Multiple submitters cone-rod dystrophy 19
- c.181+4C>T Multiple submitters
- c.2016-74G>A Multiple submitters
- c.2136+6G>C Multiple submitters
- c.2388-12T>C Multiple submitters
- c.265-47G>T Multiple submitters
- c.265-63T>C Multiple submitters
- c.3522+73G>A Multiple submitters
- c.502+69T>G Multiple submitters
- c.934+45A>G Multiple submitters
- p.Ala149Val Multiple submitters cone-rod dystrophy 19
- p.Ala592Thr Multiple submitters
- p.Ala877Thr Multiple submitters
- p.Gln1259= Multiple submitters
- p.Leu1166= Multiple submitters
- p.Phe1267Ser Multiple submitters
- c.1124+68del Single submitter
- c.1187-20G>A Single submitter
- c.2136+72del Single submitter
- c.2387+11T>A Single submitter
- c.265-5del Single submitter
- c.2987-15del Single submitter
- c.3522+73_3522+74insAAAAAAAA Single submitter
- c.3522+74_3522+75insA Single submitter
- c.3523-5del Single submitter
- c.3523-5dup Single submitter
- c.3740+12dup Single submitter
- c.656-3dup Single submitter
Benign/Likely benign 23
- c.1487+24del Multiple submitters
- c.1487+24dup Multiple submitters
- c.1709-9C>T Multiple submitters
- c.181+18C>T Multiple submitters
- c.656-3del Multiple submitters
- c.656-5_656-3del Multiple submitters
- c.740+6A>G Multiple submitters
- c.75-3T>C Multiple submitters
- c.934+10G>A Multiple submitters
- p.Ala1223Ser Multiple submitters
- p.Arg744= Multiple submitters
- p.Gln1149= Multiple submitters
- p.Glu474= Multiple submitters
- p.His1233= Multiple submitters
- p.Leu192= Multiple submitters
- p.Leu526= Multiple submitters
- p.Leu655= Multiple submitters
- p.Leu879Phe Multiple submitters
- p.Lys118= Multiple submitters
- p.Lys275Arg Multiple submitters inherited retinal dystrophy
- p.Pro990= Multiple submitters
- p.Ser984Cys Multiple submitters
- p.Thr958Ala Multiple submitters
Likely benign 388
Showing the top 300 by review status; the full set is in the sitemap.
- c.1043-20G>A Multiple submitters
- c.1124+14A>G Multiple submitters
- c.1187-7C>G Multiple submitters
- c.1187-8C>T Multiple submitters
- c.1396-16C>T Multiple submitters
- c.1550+17C>T Multiple submitters
- c.181+23A>G Multiple submitters
- c.2015+20A>G Multiple submitters
- c.2016-4A>G Multiple submitters
- c.2136+16C>G Multiple submitters
- c.2137-12T>C Multiple submitters
- c.2137-17G>A Multiple submitters
- c.2137-20C>T Multiple submitters
- c.2516-61A>G Multiple submitters
- c.2603-16G>C Multiple submitters
- c.2603-23TTGTT[2] Multiple submitters
- c.2603-3T>C Multiple submitters
- c.264+18A>G Multiple submitters
- c.2987-11C>T Multiple submitters
- c.3172-13G>A Multiple submitters
- c.3172-14C>T Multiple submitters
- c.3172-8A>T Multiple submitters
- c.3327-16T>C Multiple submitters
- c.3522+74G>A Multiple submitters
- c.3823+10C>T Multiple submitters
- c.74+18T>C Multiple submitters
- c.75-7G>A Multiple submitters
- c.843-16T>C Multiple submitters
- c.935-15A>C Multiple submitters
- p.Ala1042= Multiple submitters
- p.Ala1240= Multiple submitters
- p.Ala1251= Multiple submitters
- p.Ala164= Multiple submitters
- p.Ala312= Multiple submitters
- p.Ala331= Multiple submitters
- p.Ala377= Multiple submitters
- p.Ala46= Multiple submitters
- p.Ala722= Multiple submitters
- p.Arg111= Multiple submitters
- p.Arg188= Multiple submitters
- p.Arg252= Multiple submitters
- p.Arg554= Multiple submitters
- p.Arg989Cys Multiple submitters
- p.Asn1125= Multiple submitters
- p.Asn633Asp Multiple submitters
- p.Asp353= Multiple submitters
- p.Asp47= Multiple submitters
- p.Asp594Gly Multiple submitters cone-rod dystrophy 19
- p.Asp754= Multiple submitters
- p.Cys1222= Multiple submitters
- p.Gln142= Multiple submitters
- p.Gln573= Multiple submitters
- p.Glu1252= Multiple submitters
- p.Glu288= Multiple submitters
- p.Glu588= Multiple submitters
- p.Glu656= Multiple submitters
- p.Glu846Lys Multiple submitters
- p.Gly189= Multiple submitters
- p.Gly696= Multiple submitters
- p.Gly819= Multiple submitters
- p.His914= Multiple submitters
- p.Ile3= Multiple submitters
- p.Ile756= Multiple submitters
- p.Leu1019= Multiple submitters
- p.Leu105= Multiple submitters
- p.Leu1063= Multiple submitters
- p.Leu1111= Multiple submitters
- p.Leu201= Multiple submitters
- p.Leu442= Multiple submitters
- p.Leu499= Multiple submitters
- p.Leu684= Multiple submitters
- p.Leu726= Multiple submitters
- p.Leu935= Multiple submitters
- p.Lys293= Multiple submitters
- p.Pro1088= Multiple submitters
- p.Pro949= Multiple submitters
- p.Ser1242= Multiple submitters
- p.Ser171= Multiple submitters
- p.Ser208= Multiple submitters
- p.Ser813= Multiple submitters
- p.Thr1092= Multiple submitters
- p.Thr156= Multiple submitters
- p.Thr699= Multiple submitters
- p.Tyr507= Multiple submitters
- p.Tyr542= Multiple submitters
- p.Val591= Multiple submitters
- c.1043-10G>A Single submitter
- c.1043-7T>A Single submitter
- c.1124+7_1124+8del Single submitter
- c.1124+8A>T Single submitter
- c.1124+9G>T Single submitter
- c.1125-5G>T Single submitter
- c.1186+13A>G Single submitter
- c.1186+18C>G Single submitter
- c.1186+9T>C Single submitter
- c.1187-14C>T Single submitter
- c.1187-8_1187-7delinsTG Single submitter
- c.1187-9C>A Single submitter
- c.1281+13C>T Single submitter
- c.1281+17G>C Single submitter
- c.1281+18C>G Single submitter
- c.1281+18C>T Single submitter
- c.1281+19A>G Single submitter
- c.1281+2277C>T Single submitter
- c.1281+2278G>A Single submitter
- c.1281+9A>G Single submitter
- c.1282-16A>G Single submitter
- c.1282-20_1282-18del Single submitter
- c.1282-6C>T Single submitter
- c.1395+14C>T Single submitter
- c.1395+20A>C Single submitter
- c.1396-12T>C Single submitter
- c.1396-6A>T Single submitter
- c.1487+10C>A Single submitter
- c.1487+10C>T Single submitter
- c.1487+13C>G Single submitter
- c.1487+8G>A Single submitter
- c.1488-13C>A Single submitter
- c.1550+13T>C Single submitter
- c.1551-4C>T Single submitter
- c.1708+11G>A Single submitter
- c.1708+7G>A Single submitter
- c.1709-18G>C Single submitter
- c.1709-18G>T Single submitter
- c.1709-19_1709-13del Single submitter
- c.1709-19A>T Single submitter
- c.1709-20T>G Single submitter
- c.181+18C>G Single submitter
- c.181+7A>G Single submitter
- c.181+9A>G Single submitter
- c.182-11T>G Single submitter
- c.182-17A>G Single submitter
- c.182-18G>T Single submitter
- c.182-3T>C Single submitter
- c.182-4T>A Single submitter
- c.2015+17_2015+22del Single submitter
- c.2015+7A>G Single submitter
- c.2016-20G>A Single submitter
- c.2136+10T>G Single submitter
- c.2136+13T>C Single submitter
- c.2136+18G>C Single submitter
- c.2136+7C>G Single submitter
- c.2137-16A>T Single submitter
- c.2137-18C>T Single submitter
- c.2137-4A>G Single submitter
- c.2137-5del Single submitter
- c.2137-7T>C Single submitter
- c.2284-10C>T Single submitter
- c.2284-11G>T Single submitter
- c.2387+19_2387+22del Single submitter
- c.2387+20G>A Single submitter
- c.2388-10C>T Single submitter
- c.2388-11C>A Single submitter
- c.2388-19C>T Single submitter
- c.2388-7A>C Single submitter
- c.2388-8_2388-6del Single submitter
- c.2515+8T>C Single submitter
- c.2516-7A>T Single submitter
- c.2602+18T>C Single submitter
- c.2602+19A>T Single submitter
- c.2602+20C>T Single submitter
- c.2603-12T>C Single submitter
- c.2603-6T>C Single submitter
- c.264+20C>T Single submitter
- c.265-10C>G Single submitter
- c.265-12G>A Single submitter
- c.265-12G>C Single submitter
- c.265-14C>G Single submitter
- c.265-18C>T Single submitter
- c.265-19T>C Single submitter
- c.2986+14C>A Single submitter
- c.2986+14C>T Single submitter
- c.2986+15G>A Single submitter
- c.2987-10G>A Single submitter
- c.2987-10G>T Single submitter
- c.3171+17G>T Single submitter
- c.3171+19G>A Single submitter
- c.3171+4C>T Single submitter
- c.3171+9G>T Single submitter
- c.3172-14C>A Single submitter
- c.3172-16C>G Single submitter
- c.3172-16C>T Single submitter
- c.3326+11G>T Single submitter
- c.3327-20C>T Single submitter
- c.3327-7_3327-3del Single submitter
- c.3327-7T>C Single submitter
- c.3522+17C>G Single submitter
- c.3522+18T>C Single submitter
- c.3523-13T>C Single submitter
- c.3523-19T>G Single submitter
- c.3523-20T>G Single submitter
- c.3523-4G>A Single submitter
- c.3523-4G>T Single submitter
- c.371+9C>T Single submitter
- c.372-11T>G Single submitter
- c.3740+15G>C Single submitter
- c.3740+19A>C Single submitter
- c.3740+3867C>T Single submitter
- c.3823+7G>A Single submitter
- c.3823+8G>A Single submitter
- c.3824-17G>T Single submitter
- c.3824-20G>C Single submitter
- c.3824-7T>G Single submitter
- c.3824-8T>C Single submitter
- c.502+12A>G Single submitter
- c.502+13C>T Single submitter
- c.503-19C>T Single submitter
- c.585+10C>T Single submitter
- c.655+20T>G Single submitter
- c.655+9T>C Single submitter
- c.74+9T>C Single submitter
- c.740+11G>A Single submitter
- c.740+14T>C Single submitter
- c.741-10C>T Single submitter
- c.741-13T>G Single submitter
- c.741-18C>T Single submitter
- c.741-19C>G Single submitter
- c.741-4T>C Single submitter
- c.741-5A>G Single submitter
- c.75-10G>A Single submitter
- c.75-12_75-11del Single submitter
- c.75-8C>T Single submitter
- c.843-14_843-12del Single submitter
- c.843-7G>A Single submitter
- c.934+14C>G Single submitter
- c.934+8C>T Single submitter
- c.935-10T>A Single submitter
- c.935-10T>C Single submitter
- c.*13C>G Single submitter
- p.Ala1064= Single submitter
- p.Ala1175= Single submitter
- p.Ala434= Single submitter
- p.Ala437= Single submitter
- p.Ala523= Single submitter
- p.Ala702= Single submitter
- p.Ala740= Single submitter
- p.Ala798= Single submitter
- p.Ala814= Single submitter
- p.Arg1035= Single submitter
- p.Arg1080= Single submitter
- p.Arg133= Single submitter
- p.Arg140= Single submitter
- p.Arg308= Single submitter
- p.Arg37= Single submitter
- p.Arg409= Single submitter
- p.Arg470= Single submitter
- p.Arg556= Single submitter
- p.Arg638= Single submitter
- p.Arg738= Single submitter
- p.Arg964= Single submitter
- p.Asn1052Ser Single submitter
- p.Asn195= Single submitter
- p.Asn54= Single submitter
- p.Asn578= Single submitter
- p.Asp223= Single submitter
- p.Asp283= Single submitter
- p.Asp289= Single submitter
- p.Asp319= Single submitter
- p.Asp594= Single submitter
- p.Cys946Ser Single submitter Inborn genetic diseases
- p.Gln1056= Single submitter
- p.Gln1153= Single submitter
- p.Gln600= Single submitter
- p.Gln604= Single submitter
- p.Gln666= Single submitter
- p.Gln688= Single submitter
- p.Gln856= Single submitter
- p.Gln920= Single submitter
- p.Glu162= Single submitter
- p.Glu348= Single submitter
- p.Glu529= Single submitter
- p.Glu550= Single submitter
- p.Glu601= Single submitter
- p.Glu639= Single submitter
- p.Glu654= Single submitter
- p.Glu776= Single submitter
- p.Glu802= Single submitter
- p.Gly1132= Single submitter
- p.Gly187= Single submitter
- p.Gly277= Single submitter
- p.Gly291= Single submitter
- p.Gly351= Single submitter
- p.Gly396= Single submitter
- p.Gly496= Single submitter Inborn genetic diseases
- p.Gly609= Single submitter
- p.Gly697= Single submitter
- p.Gly887= Single submitter
- p.Gly911= Single submitter
- p.His1173= Single submitter
- p.Ile1051= Single submitter
- p.Ile1082= Single submitter
- p.Ile152= Single submitter
- p.Ile205= Single submitter
- p.Ile954Val Single submitter Inborn genetic diseases
- p.Leu1036= Single submitter
- p.Leu1053= Single submitter
- p.Leu1182= Single submitter
- p.Leu1211= Single submitter
- p.Leu206= Single submitter
- p.Leu215= Single submitter
Uncertain significance 605
Showing the top 300 by review status; the full set is in the sitemap.
- c.181+5G>A Multiple submitters
- c.2016-3T>C Multiple submitters
- c.586-4A>G Multiple submitters
- c.74+3A>G Multiple submitters
- c.74+6T>G Multiple submitters
- p.Ala1042Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1175Ser Multiple submitters ⚠
- p.Ala164Val Multiple submitters ⚠
- p.Ala312Thr Multiple submitters ⚠
- p.Ala328Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala377Val Multiple submitters ⚠
- p.Ala437Val Multiple submitters ⚠
- p.Ala446Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala523Val Multiple submitters ⚠
- p.Arg1023Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1023Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1035Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg111His Multiple submitters ⚠
- p.Arg111Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg1163Gln Multiple submitters ⚠
- p.Arg1163Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1172Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1172Trp Multiple submitters ⚠
- p.Arg130Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg130Trp Multiple submitters ⚠
- p.Arg133Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg140Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg174Trp Multiple submitters ⚠
- p.Arg188Trp Multiple submitters ⚠
- p.Arg209Leu Multiple submitters ⚠
- p.Arg225His Multiple submitters ⚠
- p.Arg261Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg343Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg343His Multiple submitters ⚠
- p.Arg405Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg405Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg409Trp Multiple submitters ⚠
- p.Arg419Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg420Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg428His Multiple submitters Inborn genetic diseases ⚠
- p.Arg430Cys Multiple submitters ⚠
- p.Arg430His Multiple submitters ⚠
- p.Arg447Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg447Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg447Trp Multiple submitters ⚠
- p.Arg478Gln Multiple submitters ⚠
- p.Arg484His Multiple submitters ⚠
- p.Arg512Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Arg554Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg556Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg556Gly Multiple submitters ⚠
- p.Arg557del Multiple submitters
- p.Arg557Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg612Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg62Cys Multiple submitters ⚠
- p.Arg690Cys Multiple submitters ⚠
- p.Arg717Cys Multiple submitters
- p.Arg71Gln Multiple submitters ⚠
- p.Arg737Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg744Cys Multiple submitters ⚠
- p.Arg744His Multiple submitters ⚠
- p.Arg745Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg75His Multiple submitters Inborn genetic diseases ⚠
- p.Arg78Cys Multiple submitters ⚠
- p.Arg78His Multiple submitters Inborn genetic diseases ⚠
- p.Arg962Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Arg989His Multiple submitters ⚠
- p.Asn1052His Multiple submitters Inborn genetic diseases ⚠
- p.Asn1125_Tyr1127del Multiple submitters
- p.Asn194Ser Multiple submitters ⚠
- p.Asn213Lys Multiple submitters ⚠
- p.Asn476Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn578Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn897Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp1095Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp18Gly Multiple submitters ⚠
- p.Asp283Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp284Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp357Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp53Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp597Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp833His Multiple submitters Inborn genetic diseases ⚠
- p.Asp864Val Multiple submitters Inborn genetic diseases ⚠
- p.Cys429Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln1097Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln117Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln155Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln573Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln920His Multiple submitters Inborn genetic diseases ⚠
- p.Gln977Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu1123Gln Multiple submitters ⚠
- p.Glu17Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu329Gly Multiple submitters ⚠
- p.Glu606Lys Multiple submitters ⚠
- p.Glu61Lys Multiple submitters ⚠
- p.Glu778_Glu780del Multiple submitters
- p.Glu786Val Multiple submitters inherited retinal dystrophy ⚠
- p.Glu876Gln Multiple submitters ⚠
- p.Gly1132Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly1195Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly35Ser Multiple submitters ⚠
- p.Gly697Ser Multiple submitters Inborn genetic diseases ⚠
- p.His121Tyr Multiple submitters ⚠
- p.His266Asn Multiple submitters Inborn genetic diseases ⚠
- p.His686Arg Multiple submitters Inborn genetic diseases ⚠
- p.His87Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile1007Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile1007Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile138Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile199Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ile757Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile970Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1053Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu1054Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu1166Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu1237Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu1258Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu1262Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu153His Multiple submitters ⚠
- p.Leu201Gln Multiple submitters ⚠
- p.Leu313Trp Multiple submitters Inborn genetic diseases ⚠
- p.Leu330Gln Multiple submitters Reduced sperm motility ⚠
- p.Leu355Val Multiple submitters ⚠
- p.Leu665Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu739Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu908Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu9Val Multiple submitters ⚠
- p.Lys1214Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys258Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys323Gln Multiple submitters ⚠
- p.Lys636Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met299Val Multiple submitters ⚠
- p.Met31Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met387Val Multiple submitters Inborn genetic diseases
- p.Met564Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met635Val Multiple submitters Inborn genetic diseases ⚠
- p.Met785Thr Multiple submitters ⚠
- p.Met99Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe122Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe680Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe700Leu Multiple submitters ⚠
- p.Pro1231Ser Multiple submitters ⚠
- p.Pro1269Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro176Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro181Ala Multiple submitters ⚠
- p.Pro196Ala Multiple submitters ⚠
- p.Pro196Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro431Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro657Ser Multiple submitters ⚠
- p.Pro926Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser1049Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser1260Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser1260Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser14Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser171Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser386Gly Multiple submitters ⚠
- p.Ser435Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser530Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser703Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser834Ile Multiple submitters ⚠
- p.Ser92Gly Multiple submitters ⚠
- p.Ser997Leu Multiple submitters ⚠
- p.Ter1282Arg Multiple submitters
- p.Thr1142Ile Multiple submitters ⚠
- p.Thr144Ile Multiple submitters ⚠
- p.Thr334Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr408Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr488Ala Multiple submitters ⚠
- p.Thr858Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr1146Cys Multiple submitters ⚠
- p.Tyr126Ser Multiple submitters cone-rod dystrophy 19 ⚠
- p.Tyr290Phe Multiple submitters ⚠
- p.Tyr507Asp Multiple submitters Inborn genetic diseases ⚠
- p.Tyr507Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr618His Multiple submitters ⚠
- p.Tyr96Cys Multiple submitters ⚠
- p.Val1126Met Multiple submitters ⚠
- p.Val119Ile Multiple submitters ⚠
- p.Val1236Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val190Ile Multiple submitters ⚠
- p.Val354Met Multiple submitters ⚠
- p.Val367Met Multiple submitters Inborn genetic diseases ⚠
- p.Val58Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val70Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val715Leu Multiple submitters Inborn genetic diseases ⚠
- c.1043-3T>C Single submitter
- c.1125-6T>G Single submitter
- c.1282-18_1282-17delinsAA Single submitter
- c.1551-3T>C Single submitter
- c.1709-7T>A Single submitter
- c.1709-8_1709-7inv Single submitter
- c.1709-8G>A Single submitter
- c.2015+4T>A Single submitter
- c.2284-5G>C Single submitter
- c.2516-6T>A Single submitter
- c.2602+1G>T Single submitter
- c.264+4A>G Single submitter
- c.265-3C>G Single submitter
- c.2987-12C>G Single submitter
- c.3171+5G>A Single submitter
- c.3741-12T>A Single submitter
- c.3824-2A>G Single submitter
- c.3824-3C>T Single submitter
- c.502+3A>C Single submitter
- c.503-13A>G Single submitter
- c.75-6T>G Single submitter
- c.842+4C>G Single submitter
- c.843-11A>G Single submitter
- p.Ala1017Thr Single submitter ⚠
- p.Ala1064Thr Single submitter ⚠
- p.Ala1201Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1201Val Single submitter ⚠
- p.Ala1251Thr Single submitter ⚠
- p.Ala1265Val Single submitter ⚠
- p.Ala164Ser Single submitter ⚠
- p.Ala249Val Single submitter ⚠
- p.Ala331Thr Single submitter ⚠
- p.Ala331Val Single submitter ⚠
- p.Ala335Asp Single submitter Inborn genetic diseases ⚠
- p.Ala434Val Single submitter ⚠
- p.Ala437Thr Single submitter ⚠
- p.Ala48Asp Single submitter ⚠
- p.Ala520Thr Single submitter ⚠
- p.Ala540Val Single submitter ⚠
- p.Ala602Thr Single submitter ⚠
- p.Ala616Gly Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Ala749Asp Single submitter ⚠
- p.Ala836Thr Single submitter ⚠
- p.Ala873Val Single submitter Inborn genetic diseases ⚠
- p.Ala877Val Single submitter ⚠
- p.Ala951Thr Single submitter ⚠
- p.Ala979Val Single submitter ⚠
- p.Arg1035Trp Single submitter ⚠
- p.Arg1080Gln Single submitter ⚠
- p.Arg1109Lys Single submitter ⚠
- p.Arg1109Thr Single submitter ⚠
- p.Arg111Cys Single submitter Inborn genetic diseases ⚠
- p.Arg124Lys Single submitter ⚠
- p.Arg140Gly Single submitter ⚠
- p.Arg140Leu Single submitter cone-rod dystrophy 19 ⚠
- p.Arg174Pro Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg252Gln Single submitter Inborn genetic diseases ⚠
- p.Arg343Gly Single submitter Inborn genetic diseases ⚠
- p.Arg38Gly Single submitter Inborn genetic diseases ⚠
- p.Arg420Gly Single submitter ⚠
- p.Arg428Cys Single submitter ⚠
- p.Arg430Gly Single submitter ⚠
- p.Arg447Gly Single submitter ⚠
- p.Arg470Gln Single submitter ⚠
- p.Arg479Gln Single submitter
- p.Arg484Cys Single submitter ⚠
- p.Arg512His Single submitter ⚠
- p.Arg517Lys Single submitter ⚠
- p.Arg557Gln Single submitter Inborn genetic diseases ⚠
- p.Arg560Ser Single submitter ⚠
- p.Arg562Lys Single submitter ⚠
- p.Arg638His Single submitter ⚠
- p.Arg638Ser Single submitter ⚠
- p.Arg71Leu Single submitter Inborn genetic diseases ⚠
- p.Arg721Gln Single submitter ⚠
- p.Arg745Gly Single submitter Inborn genetic diseases ⚠
- p.Arg75Cys Single submitter Inborn genetic diseases ⚠
- p.Arg7Gln Single submitter ⚠
- p.Arg962Cys Single submitter Inborn genetic diseases ⚠
- p.Arg989Gly Single submitter Inborn genetic diseases ⚠
- p.Asn1001Ile Single submitter Inborn genetic diseases ⚠
- p.Asn1025Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1060Lys Single submitter ⚠
- p.Asn204Thr Single submitter Inborn genetic diseases ⚠
- p.Asn212Lys Single submitter ⚠
- p.Asn212Ser Single submitter ⚠
- p.Asn269Tyr Single submitter ⚠
- p.Asn368Thr Single submitter ⚠
- p.Asn532His Single submitter ⚠
- p.Asn578Lys Single submitter Inborn genetic diseases ⚠
- p.Asn633Tyr Single submitter ⚠
- p.Asn642Asp Single submitter ⚠
- p.Asn829His Single submitter ⚠
- p.Asn829Lys Single submitter ⚠
- p.Asn830Ser Single submitter ⚠
- p.Asn883Ser Single submitter ⚠
- p.Asp1095Glu Single submitter Inborn genetic diseases ⚠
- p.Asp1167fs Single submitter
- p.Asp1275Tyr Single submitter ⚠
- p.Asp18Asn Single submitter ⚠
- p.Asp218= Single submitter
- p.Asp223His Single submitter Inborn genetic diseases ⚠
- p.Asp26Gly Single submitter ⚠
- p.Asp289Asn Single submitter ⚠
- p.Asp319Glu Single submitter ⚠
- p.Asp380Tyr Single submitter ⚠
- p.Asp401Gly Single submitter ⚠
- p.Asp47Asn Single submitter Inborn genetic diseases ⚠
- p.Asp47Tyr Single submitter ⚠
- p.Asp667Gly Single submitter ⚠
- p.Asp73Gly Single submitter ⚠
- p.Asp754His Single submitter ⚠
- p.Asp781Gly Single submitter ⚠