TDRD7 — 272 ClinVar variants
All ClinVar germline TDRD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →
7 Pathogenic · 3 Likely pathogenic · 13 Conflicting · 26 Benign · 5 Benign/Likely benign · 39 Likely benign · 179 Uncertain significance
Full TDRD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 167
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TDRD7 p.Arg830Cys
Conflicting
Single submitter
cataract 36
-
TDRD7 p.Ile780Val
Conflicting
Single submitter
Inborn genetic diseases
-
TDRD7 p.Lys146Arg
Conflicting
Single submitter
cataract 36
-
TDRD7 p.Met889Val
Conflicting
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr208Ala
Conflicting
Single submitter
cataract 36
Predictors lean, ClinVar uncertain 143
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TDRD7 p.Ala651Thr
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Ala895Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Ala958Thr
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Arg1013Gln
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Arg834Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Arg99Cys
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Arg99His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Glu63Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.His421Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Ile1002Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Ile753Val
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Ile981Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Leu435Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Lys242Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Lys979Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Met234Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Pro565Leu
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Pro822Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Pro868Leu
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Pro931Ser
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Ser229Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Ser680Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TDRD7 p.Thr285Met
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Ala193Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ala228Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ala301Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ala428Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ala463Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ala774Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ala815Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ala895Asp
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Arg1065Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg12Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg179Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg66Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg684Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg720Gln
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Arg730Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg756Gln
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Arg82Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg834His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg834Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg878Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Arg955His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Asn1059His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Asn139Ser
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Asn564Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Asn725Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Asn797Ser
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Asn824Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Asp451Glu
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Asp587Gly
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Asp840Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Asp883Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Gln200Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TDRD7 p.Glu698Val Uncertain significance Single submitter
-
TDRD7 p.Glu760Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Glu954Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Gly323Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Gly395Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Gly422Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Gly716Glu
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Gly781Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Gly871Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Gly98Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.His1043Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.His694Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.His906Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ile1002Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ile426Val
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Ile62Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ile762Thr
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Ile764Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ile832Val
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Ile929Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ile935Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Leu1015Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Leu269Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Leu318Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Leu34Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Leu408Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- TDRD7 p.Leu616Phe Uncertain significance Single submitter
-
TDRD7 p.Leu635Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Leu667Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Leu881Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Leu881Val
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Lys1004Glu
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Lys192Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TDRD7 p.Lys304Arg Uncertain significance Single submitter
-
TDRD7 p.Lys611Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Met1011Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TDRD7 p.Met158Ile Uncertain significance Single submitter
-
TDRD7 p.Met183Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Met75Val
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Met782Leu
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Met782Val
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Met867Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Met869Val
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Phe113Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Phe132Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Phe567Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Phe849Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Pro324Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Pro397Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Pro456Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TDRD7 p.Pro860Leu Uncertain significance Single submitter
-
TDRD7 p.Pro931Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ser130Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ser190Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ser389Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ser440Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ser558Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ser702Thr
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Ser794Tyr
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Ser799Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ser831Gly
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Ser855Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Ser894Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr166Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr231Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr231Ser
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Thr335Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr353Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr353Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr743Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr806Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr873Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Trp280Arg
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Tyr1070Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Tyr1090Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Tyr369Asp
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Tyr392Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Tyr689Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val1027Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val387Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val592Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val618Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val742Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val805Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val928Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val940Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val959Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val987Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 18
The independent predictors disagree with each other — read with care.
-
TDRD7 p.Asn631Ser
Uncertain significance
Multiple submitters
cataract 36
-
TDRD7 p.Arg240Cys
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Asn833Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Cys673Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Cys798Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Glu607Asp
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Ile628Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Leu361Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Lys262Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TDRD7 p.Phe712Leu Uncertain significance Single submitter
-
TDRD7 p.Pro374Leu
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Ser67Pro
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Ser802Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Thr80Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Trp842Arg
Uncertain significance
Single submitter
cataract 36
-
TDRD7 p.Val1053Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val788Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TDRD7 p.Val964Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All TDRD7 variants
Pathogenic 7
- p.Gln670Ter Single submitter cataract 36
- p.Lys887fs Single submitter cataract 36
- p.Met942fs Single submitter cataract 36
- p.Ala377fs No assertion criteria cataract 36
- p.Thr110fs No assertion criteria cataract 36
- p.Tyr230Ter No assertion criteria cataract 36
- p.Val618del No assertion criteria cataract 36
Likely pathogenic 3
- p.Cys333fs Single submitter cataract 36
- p.Thr285= Single submitter cataract 36
- p.Asp847Asn No assertion criteria cataract 36 ⚠
Conflicting classifications of pathogenicity 13
- c.2079+7C>T Single submitter cataract 36
- p.Arg830Cys Single submitter cataract 36 ⚠
- p.Asn148= Single submitter cataract 36
- p.Cys77= Single submitter cataract 36
- p.Gly985= Single submitter cataract 36
- p.His1043= Single submitter cataract 36
- p.Ile780Val Single submitter Inborn genetic diseases ⚠
- p.Leu667= Single submitter cataract 36
- p.Lys146Arg Single submitter cataract 36 ⚠
- p.Lys344= Single submitter cataract 36
- p.Met889Val Single submitter Inborn genetic diseases ⚠
- p.Thr208Ala Single submitter cataract 36 ⚠
- p.Thr893= Single submitter cataract 36
Benign 26
- c.1629+7A>G Multiple submitters cataract 36
- c.1742-30G>A Multiple submitters
- c.207+169T>C Multiple submitters
- c.207+18C>T Multiple submitters cataract 36
- c.207+19G>A Multiple submitters cataract 36
- c.208-102T>C Multiple submitters
- c.637+64G>A Multiple submitters
- p.Gln196= Multiple submitters cataract 36
- p.His202Arg Multiple submitters cataract 36
- p.Leu11= Multiple submitters cataract 36
- p.Lys304= Multiple submitters cataract 36
- p.Lys641= Multiple submitters cataract 36
- p.Val150Ala Multiple submitters cataract 36
- c.1442+284A>G Single submitter
- c.1741+238C>T Single submitter
- c.1742-174T>G Single submitter
- c.1944+258A>T Single submitter
- c.2079+9G>A Single submitter cataract 36
- c.208-214A>G Single submitter
- c.208-229T>C Single submitter
- c.2413-330C>T Single submitter
- c.3076+309G>A Single submitter
- c.350-10A>G Single submitter cataract 36
- c.563+133A>G Single submitter
- c.564-167A>G Single submitter
- c.638-232G>T Single submitter
Benign/Likely benign 5
- c.563+14G>A Multiple submitters cataract 36
- p.Arg830His Multiple submitters cataract 36
- p.Cys600= Multiple submitters cataract 36
- p.Ser623= Multiple submitters cataract 36
- p.Val181= Multiple submitters
Likely benign 39
- c.1945-47T>G Multiple submitters
- c.2080-268A>G Multiple submitters
- c.2167-130G>A Multiple submitters
- p.Asn131Asp Multiple submitters cataract 36
- p.Thr447= Multiple submitters cataract 36
- c.1442+269C>T Single submitter
- c.1630-199T>C Single submitter
- c.1630-52A>G Single submitter
- c.1741+195T>C Single submitter
- c.1944+9G>A Single submitter cataract 36
- c.1945-9_1945-6del Single submitter cataract 36
- c.2080-139T>C Single submitter
- c.2080-146C>T Single submitter
- c.2302-20C>G Single submitter cataract 36
- c.2412+8A>C Single submitter
- c.2412+8A>G Single submitter cataract 36
- c.2915+11G>A Single submitter cataract 36
- c.2916-124G>A Single submitter
- c.350-130A>G Single submitter
- p.Ala129Ser Single submitter Inborn genetic diseases
- p.Arg684His Single submitter Inborn genetic diseases
- p.Asn446Asp Single submitter Inborn genetic diseases
- p.Asp347Glu Single submitter Inborn genetic diseases
- p.Gln275= Single submitter cataract 36
- p.Gln414= Single submitter cataract 36
- p.Gln735= Single submitter cataract 36
- p.Glu900= Single submitter cataract 36
- p.Gly675= Single submitter cataract 36
- p.Ile452Val Single submitter Inborn genetic diseases
- p.Leu619= Single submitter cataract 36
- p.Leu947= Single submitter cataract 36
- p.Pro142Leu Single submitter Inborn genetic diseases
- p.Pro362= Single submitter
- p.Ser586= Single submitter
- p.Thr208= Single submitter cataract 36
- p.Thr741= Single submitter cataract 36
- p.Val817Ile Single submitter Inborn genetic diseases
- c.564-5C>T No assertion criteria
- c.564-7A>T No assertion criteria
Uncertain significance 179
- p.Ala651Thr Multiple submitters cataract 36 ⚠
- p.Ala895Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala958Thr Multiple submitters cataract 36 ⚠
- p.Arg1013Gln Multiple submitters cataract 36 ⚠
- p.Arg834Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg99Cys Multiple submitters cataract 36 ⚠
- p.Arg99His Multiple submitters Inborn genetic diseases ⚠
- p.Asn631Ser Multiple submitters cataract 36 ⚠
- p.Glu63Asp Multiple submitters Inborn genetic diseases ⚠
- p.His421Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile1002Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile753Val Multiple submitters cataract 36 ⚠
- p.Ile981Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu435Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys242Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys979Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met234Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro565Leu Multiple submitters cataract 36 ⚠
- p.Pro822Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro868Leu Multiple submitters cataract 36 ⚠
- p.Pro931Ser Multiple submitters cataract 36 ⚠
- p.Ser229Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser680Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr285Met Multiple submitters cataract 36 ⚠
- c.207+12A>C Single submitter cataract 36
- c.2080-15A>G Single submitter cataract 36
- c.637+13A>G Single submitter cataract 36
- c.-120C>G Single submitter cataract 36
- c.-6-3T>C Single submitter cataract 36
- c.-83G>C Single submitter cataract 36
- c.*191G>A Single submitter cataract 36
- c.*220T>C Single submitter cataract 36
- p.Ala193= Single submitter cataract 36
- p.Ala193Val Single submitter Inborn genetic diseases ⚠
- p.Ala228Thr Single submitter Inborn genetic diseases ⚠
- p.Ala301Thr Single submitter Inborn genetic diseases ⚠
- p.Ala428Asp Single submitter Inborn genetic diseases ⚠
- p.Ala463Val Single submitter Inborn genetic diseases ⚠
- p.Ala774Gly Single submitter Inborn genetic diseases ⚠
- p.Ala815Thr Single submitter Inborn genetic diseases ⚠
- p.Ala895Asp Single submitter cataract 36 ⚠
- p.Arg1065Gln Single submitter Inborn genetic diseases ⚠
- p.Arg12Gln Single submitter Inborn genetic diseases ⚠
- p.Arg179Ser Single submitter Inborn genetic diseases ⚠
- p.Arg240Cys Single submitter cataract 36 ⚠
- p.Arg66Thr Single submitter Inborn genetic diseases ⚠
- p.Arg684Cys Single submitter Inborn genetic diseases ⚠
- p.Arg720Gln Single submitter cataract 36 ⚠
- p.Arg730Gln Single submitter Inborn genetic diseases ⚠
- p.Arg751= Single submitter cataract 36
- p.Arg756Gln Single submitter cataract 36 ⚠
- p.Arg82Thr Single submitter Inborn genetic diseases ⚠
- p.Arg834His Single submitter Inborn genetic diseases ⚠
- p.Arg834Leu Single submitter Inborn genetic diseases ⚠
- p.Arg878Ser Single submitter Inborn genetic diseases ⚠
- p.Arg955His Single submitter Inborn genetic diseases ⚠
- p.Asn1059His Single submitter Inborn genetic diseases ⚠
- p.Asn139Ser Single submitter cataract 36 ⚠
- p.Asn564Asp Single submitter Inborn genetic diseases ⚠
- p.Asn725Asp Single submitter Inborn genetic diseases ⚠
- p.Asn797Ser Single submitter cataract 36 ⚠
- p.Asn824Ser Single submitter Inborn genetic diseases ⚠
- p.Asn833Ser Single submitter Inborn genetic diseases ⚠
- p.Asp451= Single submitter cataract 36
- p.Asp451Glu Single submitter cataract 36 ⚠
- p.Asp587Gly Single submitter cataract 36 ⚠
- p.Asp650= Single submitter cataract 36
- p.Asp840Asn Single submitter Inborn genetic diseases ⚠
- p.Asp883Gly Single submitter Inborn genetic diseases ⚠
- p.Cys673Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys798Arg Single submitter Inborn genetic diseases ⚠
- p.Gln200Arg Single submitter Inborn genetic diseases ⚠
- p.Gln436= Single submitter cataract 36
- p.Glu607Asp Single submitter cataract 36 ⚠
- p.Glu698Val Single submitter ⚠
- p.Glu760Asp Single submitter Inborn genetic diseases ⚠
- p.Glu954Lys Single submitter Inborn genetic diseases ⚠
- p.Gly323Arg Single submitter Inborn genetic diseases ⚠
- p.Gly395Arg Single submitter Inborn genetic diseases ⚠
- p.Gly422Ser Single submitter Inborn genetic diseases ⚠
- p.Gly716Glu Single submitter cataract 36 ⚠
- p.Gly781Ala Single submitter Inborn genetic diseases ⚠
- p.Gly871Ser Single submitter Inborn genetic diseases ⚠
- p.Gly98Glu Single submitter Inborn genetic diseases ⚠
- p.His1043Arg Single submitter Inborn genetic diseases ⚠
- p.His1043Gln Single submitter cataract 36
- p.His18= Single submitter cataract 36
- p.His694Arg Single submitter Inborn genetic diseases ⚠
- p.His906Leu Single submitter Inborn genetic diseases ⚠
- p.Ile1002Leu Single submitter Inborn genetic diseases ⚠
- p.Ile426Val Single submitter cataract 36 ⚠
- p.Ile628Met Single submitter Inborn genetic diseases ⚠
- p.Ile62Thr Single submitter Inborn genetic diseases ⚠
- p.Ile762Thr Single submitter cataract 36 ⚠
- p.Ile764Val Single submitter Inborn genetic diseases ⚠
- p.Ile832Val Single submitter cataract 36 ⚠
- p.Ile929Val Single submitter Inborn genetic diseases ⚠
- p.Ile935Met Single submitter Inborn genetic diseases ⚠
- p.Leu1015Pro Single submitter Inborn genetic diseases ⚠
- p.Leu269Phe Single submitter Inborn genetic diseases ⚠
- p.Leu318Val Single submitter Inborn genetic diseases ⚠
- p.Leu34Phe Single submitter Inborn genetic diseases ⚠
- p.Leu361Phe Single submitter Inborn genetic diseases ⚠
- p.Leu408Phe Single submitter Inborn genetic diseases ⚠
- p.Leu616Phe Single submitter ⚠
- p.Leu635Ser Single submitter Inborn genetic diseases ⚠
- p.Leu667Phe Single submitter Inborn genetic diseases ⚠
- p.Leu881Pro Single submitter Inborn genetic diseases ⚠
- p.Leu881Val Single submitter cataract 36 ⚠
- p.Lys1004Glu Single submitter cataract 36 ⚠
- p.Lys192Arg Single submitter Inborn genetic diseases ⚠
- p.Lys262Glu Single submitter Inborn genetic diseases ⚠
- p.Lys304Arg Single submitter ⚠
- p.Lys611Asn Single submitter Inborn genetic diseases ⚠
- p.Met1011Ile Single submitter Inborn genetic diseases ⚠
- p.Met158Ile Single submitter ⚠
- p.Met183Thr Single submitter Inborn genetic diseases ⚠
- p.Met75Val Single submitter cataract 36 ⚠
- p.Met782Leu Single submitter cataract 36 ⚠
- p.Met782Val Single submitter cataract 36 ⚠
- p.Met867Val Single submitter Inborn genetic diseases ⚠
- p.Met869Val Single submitter cataract 36 ⚠
- p.Phe113Leu Single submitter Inborn genetic diseases ⚠
- p.Phe132Ile Single submitter Inborn genetic diseases ⚠
- p.Phe567Leu Single submitter Inborn genetic diseases ⚠
- p.Phe712Leu Single submitter ⚠
- p.Phe849Cys Single submitter Inborn genetic diseases ⚠
- p.Pro142_Leu143insSerAlaPro Single submitter
- p.Pro324Leu Single submitter Inborn genetic diseases ⚠
- p.Pro329= Single submitter cataract 36
- p.Pro374Leu Single submitter cataract 36 ⚠
- p.Pro397Thr Single submitter Inborn genetic diseases ⚠
- p.Pro456Thr Single submitter Inborn genetic diseases ⚠
- p.Pro860Leu Single submitter ⚠
- p.Pro931Thr Single submitter Inborn genetic diseases ⚠
- p.Ser130Leu Single submitter Inborn genetic diseases ⚠
- p.Ser190Cys Single submitter Inborn genetic diseases ⚠
- p.Ser194= Single submitter cataract 36
- p.Ser389Gly Single submitter Inborn genetic diseases ⚠
- p.Ser440Gly Single submitter Inborn genetic diseases ⚠
- p.Ser558Gly Single submitter Inborn genetic diseases ⚠
- p.Ser67Pro Single submitter cataract 36 ⚠
- p.Ser702Thr Single submitter cataract 36 ⚠
- p.Ser794Tyr Single submitter cataract 36 ⚠
- p.Ser799Leu Single submitter Inborn genetic diseases ⚠
- p.Ser802Arg Single submitter Inborn genetic diseases ⚠
- p.Ser831Gly Single submitter cataract 36 ⚠
- p.Ser855Gly Single submitter Inborn genetic diseases ⚠
- p.Ser894Ile Single submitter Inborn genetic diseases ⚠
- p.Thr166Ala Single submitter Inborn genetic diseases ⚠
- p.Thr231Ile Single submitter Inborn genetic diseases ⚠
- p.Thr231Ser Single submitter cataract 36 ⚠
- p.Thr335Ile Single submitter Inborn genetic diseases ⚠
- p.Thr353Ala Single submitter Inborn genetic diseases ⚠
- p.Thr353Ile Single submitter Inborn genetic diseases ⚠
- p.Thr743Ala Single submitter Inborn genetic diseases ⚠
- p.Thr806Ile Single submitter Inborn genetic diseases ⚠
- p.Thr80Asn Single submitter Inborn genetic diseases ⚠
- p.Thr873Ala Single submitter Inborn genetic diseases ⚠
- p.Trp280Arg Single submitter cataract 36 ⚠
- p.Trp842Arg Single submitter cataract 36 ⚠
- p.Tyr1070Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr1090Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr369Asp Single submitter cataract 36 ⚠
- p.Tyr392Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr689Cys Single submitter Inborn genetic diseases ⚠
- p.Val1027Met Single submitter Inborn genetic diseases ⚠
- p.Val1053Met Single submitter Inborn genetic diseases ⚠
- p.Val387Ala Single submitter Inborn genetic diseases ⚠
- p.Val592Ala Single submitter Inborn genetic diseases ⚠
- p.Val618Ile Single submitter Inborn genetic diseases ⚠
- p.Val742Met Single submitter Inborn genetic diseases ⚠
- p.Val788Ala Single submitter Inborn genetic diseases ⚠
- p.Val805Ile Single submitter Inborn genetic diseases ⚠
- p.Val928Ile Single submitter Inborn genetic diseases ⚠
- p.Val940Ile Single submitter Inborn genetic diseases ⚠
- p.Val959Met Single submitter Inborn genetic diseases ⚠
- p.Val964Ala Single submitter Inborn genetic diseases ⚠
- p.Val987Ile Single submitter Inborn genetic diseases ⚠