CHST6 — 375 ClinVar variants
All ClinVar germline CHST6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →
24 Pathogenic · 4 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 10 Conflicting · 44 Benign · 2 Benign/Likely benign · 43 Likely benign · 223 Uncertain significance
Full CHST6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 132
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CHST6 p.Leu276Pro
Conflicting
Single submitter
macular corneal dystrophy
-
CHST6 p.Trp333Arg
Conflicting
Single submitter
macular corneal dystrophy
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CHST6 p.Ala326Ser
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Ala39Pro
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Arg166Gly
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Arg240Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHST6 p.Arg394Gln
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Gly238Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHST6 p.Ser167Phe
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Val66Leu
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Ala124Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Ala277Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Ala336Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Ala371Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Ala73Ser Uncertain significance Single submitter
-
CHST6 p.Arg162Gln
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Arg240His
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Arg272Cys Uncertain significance Single submitter
-
CHST6 p.Arg278Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Arg315His
Uncertain significance
Single submitter
macular corneal dystrophy
- CHST6 p.Arg334His Uncertain significance Single submitter
- CHST6 p.Arg50Leu Uncertain significance Single submitter
- CHST6 p.Arg50Ser Uncertain significance Single submitter
- CHST6 p.Arg93Cys Uncertain significance Single submitter
- CHST6 p.Arg93Ser Uncertain significance Single submitter
-
CHST6 p.Asn180Ser
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Asn328Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Asp105Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Asp119Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Asp119His
Uncertain significance
Single submitter
macular corneal dystrophy
- CHST6 p.Cys349Arg Uncertain significance Single submitter
-
CHST6 p.Glu244Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Glu274Gln
Uncertain significance
Single submitter
macular corneal dystrophy
- CHST6 p.Glu71Asp Uncertain significance Single submitter
-
CHST6 p.Gly141Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Gly238Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Gly309Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.His63Gln Uncertain significance Single submitter
-
CHST6 p.Ile284Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Leu152Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Leu173Pro
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Leu181Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Leu264Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Leu287Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Leu327Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Leu348Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Leu370Arg Uncertain significance Single submitter
- CHST6 p.Leu59Phe Uncertain significance Single submitter
-
CHST6 p.Lys341Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Phe121Leu Uncertain significance Single submitter
-
CHST6 p.Phe319Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Pro72Ser Uncertain significance Single submitter
-
CHST6 p.Ser118Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Ser54Phe Uncertain significance Single submitter
-
CHST6 p.Thr257Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Thr87Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Trp302Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Trp77Cys Uncertain significance Single submitter
- CHST6 p.Tyr68His Uncertain significance Single submitter
-
CHST6 p.Val125Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 72
The independent predictors disagree with each other — read with care.
-
CHST6 p.Ala128Thr
Likely pathogenic
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Ala286Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHST6 p.Ala352Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHST6 p.Arg211Gln
Pathogenic
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Arg267Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHST6 p.Arg344Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHST6 p.Gln82Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHST6 p.Glu317Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHST6 p.Leu348Arg
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Leu3Met
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Val345Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CHST6 p.Val361Ala
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Val375Gly
Uncertain significance
Multiple submitters
macular corneal dystrophy
-
CHST6 p.Ala10Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Ala134Thr
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Ala147Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Ala161Pro
Conflicting
Single submitter
macular corneal dystrophy
-
CHST6 p.Ala219Val
Conflicting
Single submitter
Inborn genetic diseases
-
CHST6 p.Ala332Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Ala91Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Ala91Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Arg155Leu
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Arg209Cys
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Arg243Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Arg272His Uncertain significance Single submitter
-
CHST6 p.Arg278Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Arg28Pro
Uncertain significance
Single submitter
macular corneal dystrophy
- CHST6 p.Arg5Cys Uncertain significance Single submitter
-
CHST6 p.Arg5His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Arg5Pro
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Arg97Cys
Likely pathogenic
Single submitter
macular corneal dystrophy
-
CHST6 p.Arg97His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Arg97Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Asn116Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Asn305Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Asn61Thr Uncertain significance Single submitter
-
CHST6 p.Asp103Asn
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Asp108Val
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Asp236Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Gln122Pro Uncertain significance Single submitter
-
CHST6 p.Gln331Arg
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Gln331His
Conflicting
Single submitter
macular corneal dystrophy
-
CHST6 p.Gln367Glu
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Glu212Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Glu244Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Glu366Lys
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Gly313Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.His249Gln Uncertain significance Single submitter
-
CHST6 p.His42Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.His42Tyr
Pathogenic
Single submitter
macular corneal dystrophy
-
CHST6 p.Ile252Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Leu152Pro Uncertain significance Single submitter
-
CHST6 p.Leu15Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Leu15Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Leu184Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Leu372Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Phe178Val
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Pro132Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Pro186Arg
Likely pathogenic
Single submitter
macular corneal dystrophy
-
CHST6 p.Pro186Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Pro186Leu
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Pro261Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Pro29Leu
Uncertain significance
Single submitter
macular corneal dystrophy
- CHST6 p.Ser131Thr Uncertain significance Single submitter
- CHST6 p.Ser144Arg Uncertain significance Single submitter
-
CHST6 p.Thr389Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Thr87Met
Uncertain significance
Single submitter
macular corneal dystrophy
-
CHST6 p.Val11Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Val171Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CHST6 p.Val41Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CHST6 p.Val76Met Uncertain significance Single submitter
-
CHST6 p.Val92Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All CHST6 variants
Pathogenic 24
- p.Arg127Cys Multiple submitters macular corneal dystrophy
- p.Arg140Ter Multiple submitters macular corneal dystrophy
- p.Arg211Gln Multiple submitters macular corneal dystrophy ⚠
- p.Cys102Gly Multiple submitters macular corneal dystrophy
- p.Leu200Arg Multiple submitters macular corneal dystrophy
- p.Ser53Leu Multiple submitters macular corneal dystrophy
- p.Ala192fs Single submitter macular corneal dystrophy
- p.Arg155fs Single submitter macular corneal dystrophy
- p.Arg205Gln Single submitter macular corneal dystrophy
- p.Arg205Trp Single submitter macular corneal dystrophy
- p.Arg211Trp Single submitter macular corneal dystrophy
- p.Gln18fs Single submitter macular corneal dystrophy
- p.Gln298Ter Single submitter macular corneal dystrophy
- p.Glu274Lys Single submitter macular corneal dystrophy
- p.Gly227fs Single submitter macular corneal dystrophy
- p.His42Tyr Single submitter macular corneal dystrophy ⚠
- p.Leu299fs Single submitter macular corneal dystrophy
- p.Lys174Arg Single submitter macular corneal dystrophy
- p.Trp2_Leu3delinsTer Single submitter macular corneal dystrophy
- p.Trp77Ter Single submitter macular corneal dystrophy
- p.Tyr110Cys Single submitter macular corneal dystrophy
- p.Val201_Val207del Single submitter macular corneal dystrophy
- p.Val6fs Single submitter macular corneal dystrophy
- p.Val99fs Single submitter macular corneal dystrophy
Pathogenic/Likely pathogenic 4
- p.Arg269fs Multiple submitters macular corneal dystrophy
- p.Gln58Ter Multiple submitters macular corneal dystrophy
- p.Glu283Ter Multiple submitters macular corneal dystrophy
- p.Met1Leu Multiple submitters macular corneal dystrophy
Likely pathogenic 25
- p.Ala128Thr Multiple submitters macular corneal dystrophy ⚠
- p.Arg177Cys Single submitter macular corneal dystrophy
- p.Arg211Gly Single submitter macular corneal dystrophy
- p.Arg247fs Single submitter macular corneal dystrophy
- p.Arg97Cys Single submitter macular corneal dystrophy ⚠
- p.Asp203Glu Single submitter macular corneal dystrophy
- p.Cys165Ter Single submitter macular corneal dystrophy
- p.Cys349Trp Single submitter macular corneal dystrophy
- p.Gln18Ter Single submitter macular corneal dystrophy
- p.Glu163fs Single submitter macular corneal dystrophy
- p.Glu274Ter Single submitter macular corneal dystrophy
- p.Leu276fs Single submitter macular corneal dystrophy
- p.Lys341fs Single submitter macular corneal dystrophy
- p.Phe24fs Single submitter macular corneal dystrophy
- p.Phe55Leu Single submitter macular corneal dystrophy
- p.Pro186Arg Single submitter macular corneal dystrophy ⚠
- p.Pro204Gln Single submitter macular corneal dystrophy
- p.Ser131Ter Single submitter macular corneal dystrophy
- p.Ser54Tyr Single submitter macular corneal dystrophy
- p.Ser98fs Single submitter macular corneal dystrophy
- p.Trp123Ter Single submitter macular corneal dystrophy
- p.Trp2Ter Single submitter macular corneal dystrophy
- p.Val176Met Single submitter
- p.Val233fs Single submitter macular corneal dystrophy
- p.Glu71Gln No assertion criteria macular corneal dystrophy
Conflicting classifications of pathogenicity 10
- p.Ala161Pro Single submitter macular corneal dystrophy ⚠
- p.Ala219Val Single submitter Inborn genetic diseases ⚠
- p.Cys165Ser Single submitter macular corneal dystrophy
- p.Gln331His Single submitter macular corneal dystrophy ⚠
- p.Glu364Ter Single submitter macular corneal dystrophy
- p.Ile306= Single submitter macular corneal dystrophy
- p.Leu101= Single submitter macular corneal dystrophy
- p.Leu276Pro Single submitter macular corneal dystrophy ⚠
- p.Pro191= Single submitter macular corneal dystrophy
- p.Trp333Arg Single submitter macular corneal dystrophy ⚠
Benign 44
- c.*1375G>A Multiple submitters macular corneal dystrophy
- c.*1566T>G Multiple submitters macular corneal dystrophy
- c.*2288T>G Multiple submitters macular corneal dystrophy
- c.*2327C>T Multiple submitters macular corneal dystrophy
- c.*377G>A Multiple submitters macular corneal dystrophy
- p.Ala256= Multiple submitters macular corneal dystrophy
- p.Ala86= Multiple submitters macular corneal dystrophy
- p.Arg155= Multiple submitters macular corneal dystrophy
- p.Arg162Gly Multiple submitters macular corneal dystrophy
- p.Arg40= Multiple submitters macular corneal dystrophy
- p.Asn222= Multiple submitters macular corneal dystrophy
- p.Leu276= Multiple submitters macular corneal dystrophy
- p.Ser98= Multiple submitters macular corneal dystrophy
- p.Val43= Multiple submitters macular corneal dystrophy
- c.-16-289TAAGAAGGTAGGACTCACAT[2] Single submitter
- c.*1047G>T Single submitter macular corneal dystrophy
- c.*1058G>A Single submitter macular corneal dystrophy
- c.*1426C>A Single submitter macular corneal dystrophy
- c.*1919C>T Single submitter macular corneal dystrophy
- c.*1967C>T Single submitter macular corneal dystrophy
- c.*2024C>G Single submitter macular corneal dystrophy
- c.*242_*243insG Single submitter
- c.*2833T>G Single submitter macular corneal dystrophy
- c.*2956G>A Single submitter macular corneal dystrophy
- c.*3465T>C Single submitter macular corneal dystrophy
- c.*3621A>G Single submitter macular corneal dystrophy
- c.*3742C>T Single submitter macular corneal dystrophy
- c.*3750C>A Single submitter macular corneal dystrophy
- c.*3819G>C Single submitter macular corneal dystrophy
- c.*3828A>T Single submitter macular corneal dystrophy
- c.*3992T>C Single submitter macular corneal dystrophy
- c.*4086G>A Single submitter macular corneal dystrophy
- c.*4155C>T Single submitter macular corneal dystrophy
- c.*4305T>C Single submitter macular corneal dystrophy
- c.*4366T>C Single submitter macular corneal dystrophy
- c.*4605C>T Single submitter macular corneal dystrophy
- c.*5187T>G Single submitter macular corneal dystrophy
- c.*5286A>T Single submitter macular corneal dystrophy
- c.*5441C>T Single submitter macular corneal dystrophy
- c.*5445G>A Single submitter macular corneal dystrophy
- c.*5465C>T Single submitter macular corneal dystrophy
- c.*606G>A Single submitter macular corneal dystrophy
- c.*955C>T Single submitter macular corneal dystrophy
- c.*991A>G Single submitter macular corneal dystrophy
Benign/Likely benign 2
- p.Ala336Thr Multiple submitters Inborn genetic diseases
- p.Thr79= Multiple submitters macular corneal dystrophy
Likely benign 43
- p.Phe263= Multiple submitters macular corneal dystrophy
- c.-78T>C Single submitter macular corneal dystrophy
- c.*1118A>G Single submitter macular corneal dystrophy
- c.*1377G>A Single submitter macular corneal dystrophy
- c.*1914A>G Single submitter macular corneal dystrophy
- c.*2210C>G Single submitter macular corneal dystrophy
- c.*2417C>T Single submitter macular corneal dystrophy
- c.*2426T>C Single submitter macular corneal dystrophy
- c.*2947G>T Single submitter macular corneal dystrophy
- c.*2955C>T Single submitter macular corneal dystrophy
- c.*3364C>A Single submitter macular corneal dystrophy
- c.*3883T>G Single submitter macular corneal dystrophy
- c.*3917G>A Single submitter macular corneal dystrophy
- c.*435C>T Single submitter macular corneal dystrophy
- c.*4487C>T Single submitter macular corneal dystrophy
- c.*4880G>A Single submitter macular corneal dystrophy
- c.*5197C>T Single submitter macular corneal dystrophy
- p.Ala137= Single submitter macular corneal dystrophy
- p.Ala142= Single submitter macular corneal dystrophy
- p.Ala154= Single submitter macular corneal dystrophy
- p.Ala206= Single submitter macular corneal dystrophy
- p.Ala352= Single submitter macular corneal dystrophy
- p.Arg243= Single submitter macular corneal dystrophy
- p.Arg5= Single submitter macular corneal dystrophy
- p.Asp108= Single submitter macular corneal dystrophy
- p.Glu212= Single submitter macular corneal dystrophy
- p.Gly292= Single submitter macular corneal dystrophy
- p.Gly357= Single submitter macular corneal dystrophy
- p.His304= Single submitter macular corneal dystrophy
- p.Ile224= Single submitter macular corneal dystrophy
- p.Leu15= Single submitter macular corneal dystrophy
- p.Leu195= Single submitter macular corneal dystrophy
- p.Leu299= Single submitter macular corneal dystrophy
- p.Leu44= Single submitter macular corneal dystrophy
- p.Lys174= Single submitter macular corneal dystrophy
- p.Phe24= Single submitter macular corneal dystrophy
- p.Ser157Pro Single submitter Inborn genetic diseases
- p.Thr389= Single submitter macular corneal dystrophy
- p.Thr9= Single submitter macular corneal dystrophy
- p.Val207= Single submitter macular corneal dystrophy
- p.Val361= Single submitter macular corneal dystrophy
- p.Ala13= No assertion criteria CHST6-related disorder
- p.His249= No assertion criteria CHST6-related disorder
Uncertain significance 223
- p.Ala286Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala326Ser Multiple submitters macular corneal dystrophy ⚠
- p.Ala352Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala39Pro Multiple submitters macular corneal dystrophy ⚠
- p.Arg166Gly Multiple submitters macular corneal dystrophy ⚠
- p.Arg240Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg267Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg344Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg394Gln Multiple submitters macular corneal dystrophy ⚠
- p.Gln82Pro Multiple submitters Inborn genetic diseases ⚠
- p.Glu317Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly238Asp Multiple submitters Inborn genetic diseases ⚠
- p.Leu348Arg Multiple submitters macular corneal dystrophy ⚠
- p.Leu3Met Multiple submitters macular corneal dystrophy ⚠
- p.Ser167Phe Multiple submitters macular corneal dystrophy ⚠
- p.Val345Met Multiple submitters Inborn genetic diseases ⚠
- p.Val361Ala Multiple submitters macular corneal dystrophy ⚠
- p.Val375Gly Multiple submitters macular corneal dystrophy ⚠
- p.Val66Leu Multiple submitters macular corneal dystrophy ⚠
- c.-115C>G Single submitter macular corneal dystrophy
- c.-154T>A Single submitter macular corneal dystrophy
- c.-21C>A Single submitter macular corneal dystrophy
- c.-66C>G Single submitter macular corneal dystrophy
- c.*1031A>G Single submitter macular corneal dystrophy
- c.*1058G>T Single submitter macular corneal dystrophy
- c.*106G>T Single submitter macular corneal dystrophy
- c.*1295T>C Single submitter macular corneal dystrophy
- c.*1324C>T Single submitter macular corneal dystrophy
- c.*1374C>T Single submitter macular corneal dystrophy
- c.*139A>G Single submitter macular corneal dystrophy
- c.*13T>C Single submitter macular corneal dystrophy
- c.*1407C>G Single submitter macular corneal dystrophy
- c.*1474C>G Single submitter macular corneal dystrophy
- c.*1526C>T Single submitter macular corneal dystrophy
- c.*1597T>G Single submitter macular corneal dystrophy
- c.*164G>T Single submitter macular corneal dystrophy
- c.*1652G>A Single submitter macular corneal dystrophy
- c.*1758A>T Single submitter macular corneal dystrophy
- c.*1810C>T Single submitter macular corneal dystrophy
- c.*1811G>A Single submitter macular corneal dystrophy
- c.*1836G>A Single submitter macular corneal dystrophy
- c.*2050G>A Single submitter macular corneal dystrophy
- c.*2131C>T Single submitter macular corneal dystrophy
- c.*241C>T Single submitter macular corneal dystrophy
- c.*242T>C Single submitter macular corneal dystrophy
- c.*2437C>T Single submitter macular corneal dystrophy
- c.*2450C>G Single submitter macular corneal dystrophy
- c.*2503G>A Single submitter macular corneal dystrophy
- c.*2635G>A Single submitter macular corneal dystrophy
- c.*2652C>T Single submitter macular corneal dystrophy
- c.*2770T>G Single submitter macular corneal dystrophy
- c.*2836T>C Single submitter macular corneal dystrophy
- c.*2962G>A Single submitter macular corneal dystrophy
- c.*3082G>A Single submitter macular corneal dystrophy
- c.*3240A>G Single submitter macular corneal dystrophy
- c.*3297C>T Single submitter macular corneal dystrophy
- c.*33G>C Single submitter macular corneal dystrophy
- c.*3441A>T Single submitter macular corneal dystrophy
- c.*3490T>C Single submitter macular corneal dystrophy
- c.*3516T>C Single submitter macular corneal dystrophy
- c.*3547C>T Single submitter macular corneal dystrophy
- c.*3602C>T Single submitter macular corneal dystrophy
- c.*3608A>C Single submitter macular corneal dystrophy
- c.*3656C>A Single submitter macular corneal dystrophy
- c.*3679T>C Single submitter macular corneal dystrophy
- c.*3811A>C Single submitter macular corneal dystrophy
- c.*3814C>G Single submitter macular corneal dystrophy
- c.*3815G>A Single submitter macular corneal dystrophy
- c.*3947C>T Single submitter macular corneal dystrophy
- c.*3983G>A Single submitter macular corneal dystrophy
- c.*4003T>C Single submitter macular corneal dystrophy
- c.*4085C>T Single submitter macular corneal dystrophy
- c.*4238A>G Single submitter macular corneal dystrophy
- c.*4290A>C Single submitter macular corneal dystrophy
- c.*4291T>C Single submitter macular corneal dystrophy
- c.*4325A>G Single submitter macular corneal dystrophy
- c.*4444A>G Single submitter macular corneal dystrophy
- c.*4460T>G Single submitter macular corneal dystrophy
- c.*4470C>T Single submitter macular corneal dystrophy
- c.*4494G>C Single submitter macular corneal dystrophy
- c.*4497G>A Single submitter macular corneal dystrophy
- c.*4566A>G Single submitter macular corneal dystrophy
- c.*4573C>T Single submitter macular corneal dystrophy
- c.*4574G>C Single submitter macular corneal dystrophy
- c.*4586T>C Single submitter macular corneal dystrophy
- c.*4589C>T Single submitter macular corneal dystrophy
- c.*472G>C Single submitter macular corneal dystrophy
- c.*4749G>T Single submitter macular corneal dystrophy
- c.*4942C>T Single submitter macular corneal dystrophy
- c.*4970T>C Single submitter macular corneal dystrophy
- c.*4981C>T Single submitter macular corneal dystrophy
- c.*5011G>A Single submitter macular corneal dystrophy
- c.*5149C>T Single submitter macular corneal dystrophy
- c.*5150G>A Single submitter macular corneal dystrophy
- c.*5182C>G Single submitter macular corneal dystrophy
- c.*5183G>A Single submitter macular corneal dystrophy
- c.*5190T>A Single submitter macular corneal dystrophy
- c.*5208C>T Single submitter macular corneal dystrophy
- c.*522G>C Single submitter macular corneal dystrophy
- c.*5311T>C Single submitter macular corneal dystrophy
- c.*5452G>C Single submitter macular corneal dystrophy
- c.*588T>G Single submitter macular corneal dystrophy
- c.*687C>A Single submitter macular corneal dystrophy
- c.*68G>T Single submitter macular corneal dystrophy
- c.*712G>A Single submitter macular corneal dystrophy
- c.*751C>T Single submitter macular corneal dystrophy
- c.*794A>C Single submitter macular corneal dystrophy
- c.*818G>A Single submitter macular corneal dystrophy
- c.*824G>A Single submitter macular corneal dystrophy
- c.*972C>A Single submitter macular corneal dystrophy
- c.*984G>C Single submitter macular corneal dystrophy
- p.Ala10Glu Single submitter Inborn genetic diseases ⚠
- p.Ala124Pro Single submitter Inborn genetic diseases ⚠
- p.Ala134Thr Single submitter macular corneal dystrophy ⚠
- p.Ala147Thr Single submitter Inborn genetic diseases ⚠
- p.Ala277Pro Single submitter Inborn genetic diseases ⚠
- p.Ala332Asp Single submitter Inborn genetic diseases ⚠
- p.Ala336Gly Single submitter Inborn genetic diseases ⚠
- p.Ala371= Single submitter macular corneal dystrophy
- p.Ala371Thr Single submitter Inborn genetic diseases ⚠
- p.Ala73Ser Single submitter ⚠
- p.Ala91Thr Single submitter Inborn genetic diseases ⚠
- p.Ala91Val Single submitter Inborn genetic diseases ⚠
- p.Arg155Leu Single submitter macular corneal dystrophy ⚠
- p.Arg162= Single submitter macular corneal dystrophy
- p.Arg162Gln Single submitter macular corneal dystrophy ⚠
- p.Arg209Cys Single submitter macular corneal dystrophy ⚠
- p.Arg240His Single submitter Inborn genetic diseases ⚠
- p.Arg243Leu Single submitter Inborn genetic diseases ⚠
- p.Arg272Cys Single submitter ⚠
- p.Arg272His Single submitter ⚠
- p.Arg278Pro Single submitter Inborn genetic diseases ⚠
- p.Arg278Trp Single submitter Inborn genetic diseases ⚠
- p.Arg28Pro Single submitter macular corneal dystrophy ⚠
- p.Arg315His Single submitter macular corneal dystrophy ⚠
- p.Arg334His Single submitter ⚠
- p.Arg378Ter Single submitter macular corneal dystrophy
- p.Arg50Leu Single submitter ⚠
- p.Arg50Ser Single submitter ⚠
- p.Arg5Cys Single submitter ⚠
- p.Arg5His Single submitter Inborn genetic diseases ⚠
- p.Arg5Pro Single submitter macular corneal dystrophy ⚠
- p.Arg93Cys Single submitter ⚠
- p.Arg93Ser Single submitter ⚠
- p.Arg97His Single submitter Inborn genetic diseases ⚠
- p.Arg97Leu Single submitter Inborn genetic diseases ⚠
- p.Asn116Asp Single submitter Inborn genetic diseases ⚠
- p.Asn180Ser Single submitter macular corneal dystrophy ⚠
- p.Asn305Ser Single submitter Inborn genetic diseases ⚠
- p.Asn328fs Single submitter macular corneal dystrophy
- p.Asn328Ser Single submitter Inborn genetic diseases ⚠
- p.Asn61Thr Single submitter ⚠
- p.Asp103Asn Single submitter macular corneal dystrophy ⚠
- p.Asp105Glu Single submitter Inborn genetic diseases ⚠
- p.Asp108Val Single submitter macular corneal dystrophy ⚠
- p.Asp119Gly Single submitter Inborn genetic diseases ⚠
- p.Asp119His Single submitter macular corneal dystrophy ⚠
- p.Asp236= Single submitter macular corneal dystrophy
- p.Asp236Val Single submitter Inborn genetic diseases ⚠
- p.Cys349Arg Single submitter ⚠
- p.Gln122Pro Single submitter ⚠
- p.Gln331Arg Single submitter macular corneal dystrophy ⚠
- p.Gln354fs Single submitter macular corneal dystrophy
- p.Gln367= Single submitter macular corneal dystrophy
- p.Gln367Glu Single submitter macular corneal dystrophy ⚠
- p.Glu212Gln Single submitter Inborn genetic diseases ⚠
- p.Glu244Gly Single submitter Inborn genetic diseases ⚠
- p.Glu244Lys Single submitter Inborn genetic diseases ⚠
- p.Glu274Gln Single submitter macular corneal dystrophy ⚠
- p.Glu366Lys Single submitter macular corneal dystrophy ⚠
- p.Glu71Asp Single submitter ⚠
- p.Gly141Asp Single submitter Inborn genetic diseases ⚠
- p.Gly238Ser Single submitter Inborn genetic diseases ⚠
- p.Gly309Val Single submitter Inborn genetic diseases ⚠
- p.Gly313Val Single submitter Inborn genetic diseases ⚠
- p.His249Gln Single submitter ⚠
- p.His42Pro Single submitter Inborn genetic diseases ⚠
- p.His63Gln Single submitter ⚠
- p.Ile252Val Single submitter Inborn genetic diseases ⚠
- p.Ile284Val Single submitter Inborn genetic diseases ⚠
- p.Leu152Gln Single submitter Inborn genetic diseases ⚠
- p.Leu152Pro Single submitter ⚠
- p.Leu15Ile Single submitter Inborn genetic diseases ⚠
- p.Leu15Phe Single submitter Inborn genetic diseases ⚠
- p.Leu173Pro Single submitter macular corneal dystrophy ⚠
- p.Leu181Arg Single submitter Inborn genetic diseases ⚠
- p.Leu184Val Single submitter Inborn genetic diseases ⚠
- p.Leu264Pro Single submitter Inborn genetic diseases ⚠
- p.Leu287Pro Single submitter Inborn genetic diseases ⚠
- p.Leu327Val Single submitter Inborn genetic diseases ⚠
- p.Leu348Val Single submitter Inborn genetic diseases ⚠
- p.Leu370Arg Single submitter ⚠
- p.Leu372Phe Single submitter Inborn genetic diseases ⚠
- p.Leu59Phe Single submitter ⚠
- p.Lys341Arg Single submitter Inborn genetic diseases ⚠
- p.Phe121Leu Single submitter ⚠
- p.Phe178Val Single submitter macular corneal dystrophy ⚠
- p.Phe319Leu Single submitter Inborn genetic diseases ⚠
- p.Pro132Gln Single submitter Inborn genetic diseases ⚠
- p.Pro186Gln Single submitter Inborn genetic diseases ⚠
- p.Pro186Leu Single submitter macular corneal dystrophy ⚠
- p.Pro261Arg Single submitter Inborn genetic diseases ⚠
- p.Pro29Leu Single submitter macular corneal dystrophy ⚠
- p.Pro72Ser Single submitter ⚠
- p.Ser118Cys Single submitter Inborn genetic diseases ⚠
- p.Ser131Thr Single submitter ⚠
- p.Ser144Arg Single submitter ⚠
- p.Ser54Phe Single submitter ⚠
- p.Ser8= Single submitter macular corneal dystrophy
- p.Thr257Ile Single submitter Inborn genetic diseases ⚠
- p.Thr389Ile Single submitter Inborn genetic diseases ⚠
- p.Thr87Lys Single submitter Inborn genetic diseases ⚠
- p.Thr87Met Single submitter macular corneal dystrophy ⚠
- p.Trp302Ser Single submitter Inborn genetic diseases ⚠
- p.Trp77Cys Single submitter ⚠
- p.Tyr68His Single submitter ⚠
- p.Val11Met Single submitter Inborn genetic diseases ⚠
- p.Val125Met Single submitter Inborn genetic diseases ⚠
- p.Val171Ala Single submitter Inborn genetic diseases ⚠
- p.Val329= Single submitter macular corneal dystrophy
- p.Val41Glu Single submitter Inborn genetic diseases ⚠
- p.Val76Met Single submitter ⚠
- p.Val92Ala Single submitter Inborn genetic diseases ⚠