MFRP — 702 ClinVar variants

All ClinVar germline MFRP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 303 flagged for review →

28 Pathogenic · 17 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 33 Conflicting · 16 Benign · 20 Benign/Likely benign · 231 Likely benign · 339 Uncertain significance

Full MFRP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 303

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.

MFRP p.Asn167Ser Pathogenic Single submitter
MFRP-related disorder

Predictors agree, ClinVar conflicts 11

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MFRP p.Arg266His Conflicting Single submitter
Inborn genetic diseases
MFRP p.Arg517Trp Conflicting Single submitter
MFRP-related disorder
MFRP p.Arg54Gly Conflicting Single submitter
isolated microphthalmia 5
MFRP p.Asp448Asn Conflicting Single submitter
Inborn genetic diseases
MFRP p.Gly288Ser Conflicting Single submitter
isolated microphthalmia 5
MFRP p.Gly449Ser Conflicting Single submitter
isolated microphthalmia 5
MFRP p.Ile331Thr Conflicting Single submitter
MFRP-related disorder
MFRP p.Pro166His Conflicting Single submitter
MFRP-related disorder
MFRP p.Ser338Arg Conflicting Single submitter
inherited retinal dystrophy
MFRP p.Thr143Ser Conflicting Single submitter
Inborn genetic diseases
MFRP p.Val47Ile Conflicting Single submitter
isolated microphthalmia 5

Predictors lean, ClinVar uncertain 234

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 234

MFRP p.Ala100Val Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Ala124Val Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Ala195Thr Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Ala254Val Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Ala545Val Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Arg201His Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Arg201Ser Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Arg257Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Arg517Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Arg54Gln Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Arg54Trp Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Arg55His Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Arg60Trp Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Arg64Cys Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Asn23Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Asn284Ser Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Asp276Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Gln183Arg Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Gln319Pro Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Gln324Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Gln514His Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Glu187Lys Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Glu20Lys Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Glu353Lys Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Glu41Lys Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Gly135Val Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Gly245Val Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Gly258Arg Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Gly307Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Gly368Glu Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Gly456Ser Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Gly503Ser Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.His169Arg Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.His230Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.His247Tyr Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.His262Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.His384Asn Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Ile182Met Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Ile339Val Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Leu305Pro Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Leu523Val Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Met253Thr Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Pro117Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Pro151Ala Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Pro151Gln Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Pro158Ser Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Pro166Ser Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Pro206Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Pro420Ala Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Pro423Ala Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Pro48Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Pro96Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Ser137Asn Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Ser193Asn Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Ser196Phe Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Ser299Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Ser533Asn Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Thr223Met Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Thr314Asn Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Thr398Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Thr417Met Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Thr558Asn Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Trp67Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Val171Met Uncertain significance Multiple submitters
inherited retinal dystrophy
MFRP p.Val236Ile Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Val278Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Val359Met Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Val386Ile Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Val498Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Ala181Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Ala261Thr Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Ala261Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Ala283Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Ala296Ser Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Ala369Thr Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Ala369Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Ala409Asp Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Ala43Thr Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Ala465Val Uncertain significance Single submitter
MFRP p.Ala545Thr Uncertain significance Single submitter
MFRP p.Ala95Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Arg152Ser Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Arg201Leu Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Arg518Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Arg527His Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Arg57Gln Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Arg57Leu Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Arg60Gln Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Arg60Leu Uncertain significance Single submitter
MFRP p.Arg64Gly Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Asn159Asp Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Asn304Ser Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Asn419Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Asp238Gly Uncertain significance Single submitter
MFRP p.Asp268Glu Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Asp42His Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Asp452Asn Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Asp62Asn Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys10Arg Uncertain significance Single submitter
inherited retinal dystrophy
MFRP p.Cys216Tyr Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys260Ser Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys285Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys294Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys301Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys327Trp Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Cys354Tyr Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys446Tyr Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys454Trp Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys512Tyr Uncertain significance Single submitter
MFRP p.Gln320Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gln93Arg Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Gln93His Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu15Val Uncertain significance Single submitter
MFRP p.Glu242Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu27Gln Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu27Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu29Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu340Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu418Asp Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Glu41Gln Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu41Gly Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu472Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu495Ala Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu495Lys Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Glu499Asp Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Glu544Ala Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu546Ala Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu569Gln Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Gly108Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly109Asp Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly109Cys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly130Arg Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Gly146Ser Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly153Ser Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly217Glu Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly245Ser Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly258Trp Uncertain significance Single submitter
MFRP p.Gly310Ser Uncertain significance Single submitter
MFRP p.Gly378Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly406Asp Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Gly435Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly456Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly503Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly552Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.His169Tyr Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.His262Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.His323Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.His330Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.His337Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.His384Asp Uncertain significance Single submitter
isolated microphthalmia 5

Predictors split 57

The independent predictors disagree with each other — read with care.

MFRP p.Ala86Asp Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Arg266Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Arg375Ser Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Arg539His Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Asn159Lys Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Asp451Asn Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Gly210Val Benign/Likely benign Multiple submitters
isolated microphthalmia 5
MFRP p.His390Pro Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Phe199Ser Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Pro165Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Pro165Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Pro166Arg Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Pro383Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Pro383His Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Pro568Ser Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Ser190Arg Uncertain significance Multiple submitters
isolated microphthalmia 5
MFRP p.Thr112Met Uncertain significance Multiple submitters
late-onset retinal degeneration
MFRP p.Thr115Asn Uncertain significance Multiple submitters
Inborn genetic diseases
MFRP p.Arg214Trp Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Asn23Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Asn345Lys Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Asn486Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Asp290Glu Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Asp445Gly Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Asp451Val Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Cys433Arg Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gln342Pro Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu192Gln Likely pathogenic Single submitter
isolated microphthalmia 5
MFRP p.Glu291Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Glu363Gly Uncertain significance Single submitter
MFRP p.Gly210Asp Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly243Glu Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly281Ala Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly476Ala Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly476Ser Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Gly522Glu Uncertain significance Single submitter
MFRP p.His390Asp Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Leu148Val Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Leu412Pro Uncertain significance Single submitter
MFRP p.Leu510Pro Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Leu89Pro Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Phe155Leu Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Phe21Leu Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Phe356Cys Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Phe396Leu Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Phe484Ile Uncertain significance Single submitter
MFRP p.Phe562Ser Uncertain significance Single submitter
Inborn genetic diseases
MFRP p.Pro166Leu Likely pathogenic Single submitter
isolated microphthalmia 5
MFRP p.Pro166Thr Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Pro383Leu Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Ser142Tyr Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Ser149Cys Uncertain significance Single submitter
MFRP p.Ser229Gly Uncertain significance Single submitter
MFRP p.Thr112Lys Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Thr116Asn Uncertain significance Single submitter
isolated microphthalmia 5
MFRP p.Tyr317Cys Conflicting Single submitter
Inborn genetic diseases
MFRP p.Val361Ala Uncertain significance Single submitter
isolated microphthalmia 5

All MFRP variants

Pathogenic 28

c.642-2A>G Multiple submitters C1QTNF5 & MFRP-related disorders
p.Gln175Ter Multiple submitters MFRP-related disorder
p.Gln319Ter Multiple submitters isolated microphthalmia 5
p.Thr364fs Multiple submitters nanophthalmos 2
p.Trp249Ter Multiple submitters isolated microphthalmia 5
p.Trp67Ter Multiple submitters inherited retinal dystrophy
c.1124+1G>A Single submitter isolated microphthalmia 5
c.641+1G>A Single submitter isolated microphthalmia 5
p.Ala252fs Single submitter isolated microphthalmia 5
p.Asn167Ser Single submitter MFRP-related disorder ⚠
p.Asn304fs Single submitter isolated microphthalmia 5
p.Asp162fs Single submitter isolated microphthalmia 5
p.Asp445fs Single submitter isolated microphthalmia 5
p.Cys433fs Single submitter isolated microphthalmia 5
p.His384fs Single submitter isolated microphthalmia 5
p.Leu212fs Single submitter isolated microphthalmia 5
p.Leu341Pro Single submitter MFRP-related disorder
p.Ser149fs Single submitter isolated microphthalmia 5
p.Ser193fs Single submitter isolated microphthalmia 5
p.Ser424fs Single submitter
p.Ser502fs Single submitter isolated microphthalmia 5
p.Thr410fs Single submitter isolated microphthalmia 5
p.Thr417fs Single submitter isolated microphthalmia 5
p.Trp172Ter Single submitter isolated microphthalmia 5
p.Trp329Ter Single submitter isolated microphthalmia 5
p.Tyr317Ter Single submitter isolated microphthalmia 5
c.899-3C>A No assertion criteria nanophthalmos 2
p.Ile182Thr No assertion criteria nanophthalmos 2

Pathogenic/Likely pathogenic 17

c.1124+1G>T Multiple submitters isolated microphthalmia 5
c.271+1G>A Multiple submitters MFRP-related disorder
c.428-2A>G Multiple submitters isolated microphthalmia 5
p.Ala100fs Multiple submitters MFRP-related disorder
p.Arg539Cys Multiple submitters MFRP-related disorder
p.Arg57Ter Multiple submitters MFRP-related disorder
p.Asn167fs Multiple submitters MFRP-related disorder
p.Cys285Ter Multiple submitters isolated microphthalmia 5
p.Cys34Ter Multiple submitters MFRP-related disorder
p.Gln320Ter Multiple submitters MFRP-related disorder
p.Gln470Ter Multiple submitters isolated microphthalmia 5
p.Glu133Ter Multiple submitters MFRP-related disorder
p.Glu360Ter Multiple submitters isolated microphthalmia 5
p.Gly210fs Multiple submitters isolated microphthalmia 5
p.Leu105fs Multiple submitters isolated microphthalmia 5
p.Pro96fs Multiple submitters isolated microphthalmia 5
p.Thr223fs Multiple submitters isolated microphthalmia 5

Likely pathogenic 18

c.1255+1G>C Single submitter isolated microphthalmia 5
c.1387+1G>C Single submitter MFRP-related disorder
c.772+2T>G Single submitter isolated microphthalmia 5
p.Cys197Ter Single submitter MFRP-related disorder
p.Cys428fs Single submitter MFRP-related disorder
p.Glu15_Ser16insTer Single submitter nanophthalmos 2
p.Glu192Gln Single submitter isolated microphthalmia 5 ⚠
p.Glu353Ter Single submitter isolated microphthalmia 5
p.Gly146del Single submitter MFRP-related disorder
p.Leu341Gln Single submitter MFRP-related ocular disease
p.Phe154fs Single submitter MFRP-related ocular disease
p.Pro140fs Single submitter MFRP-related disorder
p.Pro166Leu Single submitter isolated microphthalmia 5 ⚠
p.Ser16Ter Single submitter nanophthalmos 2
p.Ser313fs Single submitter MFRP-related disorder
c.55-1G>A No assertion criteria isolated microphthalmia 5
c.899-2A>G No assertion criteria isolated microphthalmia 5
p.Pro36fs No assertion criteria isolated microphthalmia 5

Conflicting classifications of pathogenicity 33

c.1256-4G>A Single submitter isolated microphthalmia 5
c.1256-8G>A Single submitter isolated microphthalmia 5
c.1516-4G>A Single submitter isolated microphthalmia 5
c.271+10C>T Single submitter isolated microphthalmia 5
c.773-1G>C Single submitter isolated microphthalmia 5
c.773-8A>C Single submitter isolated microphthalmia 5
c.898+4C>T Single submitter isolated microphthalmia 5
c.898+5G>A Single submitter isolated microphthalmia 5
c.976-14A>C Single submitter isolated microphthalmia 5
c.-49G>A Single submitter isolated microphthalmia 5
c.*483T>C Single submitter isolated microphthalmia 5
p.Arg266His Single submitter Inborn genetic diseases ⚠
p.Arg517Trp Single submitter MFRP-related disorder ⚠
p.Arg54Gly Single submitter isolated microphthalmia 5 ⚠
p.Asp287= Single submitter isolated microphthalmia 5
p.Asp448Asn Single submitter Inborn genetic diseases ⚠
p.Gln269= Single submitter isolated microphthalmia 5
p.Gly288Ser Single submitter isolated microphthalmia 5 ⚠
p.Gly449Ser Single submitter isolated microphthalmia 5 ⚠
p.Gly53= Single submitter isolated microphthalmia 5
p.Ile331Thr Single submitter MFRP-related disorder ⚠
p.Ile487= Single submitter isolated microphthalmia 5
p.Phe235= Single submitter isolated microphthalmia 5
p.Pro165Ser Single submitter Inborn genetic diseases
p.Pro166His Single submitter MFRP-related disorder ⚠
p.Ser101= Single submitter isolated microphthalmia 5
p.Ser299= Single submitter isolated microphthalmia 5
p.Ser338Arg Single submitter inherited retinal dystrophy ⚠
p.Ser502= Single submitter isolated microphthalmia 5
p.Thr143Ser Single submitter Inborn genetic diseases ⚠
p.Tyr317Cys Single submitter Inborn genetic diseases ⚠
p.Val47Ile Single submitter isolated microphthalmia 5 ⚠
p.Val541fs Single submitter isolated microphthalmia 5

Benign 16

c.1125-69T>A Multiple submitters
c.641+139C>T Multiple submitters
c.642-187G>A Multiple submitters
c.773-9C>T Multiple submitters isolated microphthalmia 5
c.898+86G>A Multiple submitters
c.898+89C>G Multiple submitters
c.899-64G>A Multiple submitters
c.975+18T>C Multiple submitters isolated microphthalmia 5
c.976-124A>G Multiple submitters
c.976-97T>C Multiple submitters
c.1124+11C>G Single submitter isolated microphthalmia 5
c.1124+134C>T Single submitter
c.1124+234C>T Single submitter
c.55-17_55-15dup Single submitter isolated microphthalmia 5
c.642-18del Single submitter isolated microphthalmia 5
c.642-18dup Single submitter isolated microphthalmia 5

Benign/Likely benign 20

c.1387+3G>A Multiple submitters isolated microphthalmia 5
c.157+7A>G Multiple submitters isolated microphthalmia 5
c.641+9C>T Multiple submitters isolated microphthalmia 5
c.899-10C>A Multiple submitters isolated microphthalmia 5
c.-88C>T Multiple submitters
c.*235G>A Multiple submitters isolated microphthalmia 5
p.Ala545= Multiple submitters isolated microphthalmia 5
p.Arg257His Multiple submitters isolated microphthalmia 5
p.Gly210Val Multiple submitters isolated microphthalmia 5 ⚠
p.His180= Multiple submitters isolated microphthalmia 5
p.Ile119Val Multiple submitters isolated microphthalmia 5
p.Leu318= Multiple submitters isolated microphthalmia 5
p.Leu458Phe Multiple submitters isolated microphthalmia 5
p.Phe65= Multiple submitters isolated microphthalmia 5
p.Pro166Ala Multiple submitters isolated microphthalmia 5
p.Pro24= Multiple submitters isolated microphthalmia 5
p.Pro97Leu Multiple submitters isolated microphthalmia 5
p.Thr223= Multiple submitters isolated microphthalmia 5
p.Tyr164= Multiple submitters isolated microphthalmia 5
p.Val136Met Multiple submitters isolated microphthalmia 5

Likely benign 231

c.1124+13G>T Multiple submitters isolated microphthalmia 5
c.1255+13G>A Multiple submitters isolated microphthalmia 5
c.1255+15G>A Multiple submitters isolated microphthalmia 5
c.1255+16C>A Multiple submitters isolated microphthalmia 5
c.1256-16C>A Multiple submitters isolated microphthalmia 5
c.1256-18T>C Multiple submitters isolated microphthalmia 5
c.1387+20G>A Multiple submitters isolated microphthalmia 5
c.1388-18T>C Multiple submitters isolated microphthalmia 5
c.1515+7T>C Multiple submitters isolated microphthalmia 5
c.1516-19G>A Multiple submitters isolated microphthalmia 5
c.158-20C>G Multiple submitters isolated microphthalmia 5
c.271+11G>A Multiple submitters isolated microphthalmia 5
c.271+13G>A Multiple submitters isolated microphthalmia 5
c.641+20G>A Multiple submitters isolated microphthalmia 5
c.642-20C>T Multiple submitters isolated microphthalmia 5
c.772+18T>C Multiple submitters isolated microphthalmia 5
c.773-16T>C Multiple submitters isolated microphthalmia 5
c.898+18G>C Multiple submitters isolated microphthalmia 5
c.898+20G>T Multiple submitters isolated microphthalmia 5
c.898+7G>T Multiple submitters isolated microphthalmia 5
c.975+8C>G Multiple submitters isolated microphthalmia 5
c.976-16C>T Multiple submitters isolated microphthalmia 5
p.Ala100= Multiple submitters isolated microphthalmia 5
p.Ala577= Multiple submitters isolated microphthalmia 5
p.Arg257= Multiple submitters isolated microphthalmia 5
p.Asn486= Multiple submitters isolated microphthalmia 5
p.Asp3= Multiple submitters isolated microphthalmia 5
p.Asp352= Multiple submitters isolated microphthalmia 5
p.Glu499= Multiple submitters isolated microphthalmia 5
p.Gly256= Multiple submitters isolated microphthalmia 5
p.Gly99= Multiple submitters isolated microphthalmia 5
p.Ile186= Multiple submitters isolated microphthalmia 5
p.Leu475= Multiple submitters isolated microphthalmia 5
p.Leu507= Multiple submitters isolated microphthalmia 5
p.Leu73= Multiple submitters isolated microphthalmia 5
p.Phe26= Multiple submitters isolated microphthalmia 5
p.Phe414= Multiple submitters isolated microphthalmia 5
p.Pro151= Multiple submitters isolated microphthalmia 5
p.Pro161= Multiple submitters isolated microphthalmia 5
p.Pro222= Multiple submitters isolated microphthalmia 5
p.Ser16= Multiple submitters isolated microphthalmia 5
p.Ser455= Multiple submitters isolated microphthalmia 5
p.Thr112= Multiple submitters isolated microphthalmia 5
p.Thr120= Multiple submitters isolated microphthalmia 5
p.Thr19= Multiple submitters isolated microphthalmia 5
p.Thr447= Multiple submitters isolated microphthalmia 5
c.1124+10C>T Single submitter isolated microphthalmia 5
c.1124+19A>G Single submitter
c.1125-14T>C Single submitter isolated microphthalmia 5
c.1125-20C>T Single submitter isolated microphthalmia 5
c.1125-6G>C Single submitter isolated microphthalmia 5
c.1255+15G>T Single submitter isolated microphthalmia 5
c.1255+7G>T Single submitter isolated microphthalmia 5
c.1256-14C>T Single submitter isolated microphthalmia 5
c.1256-17G>T Single submitter isolated microphthalmia 5
c.1256-20C>T Single submitter isolated microphthalmia 5
c.1387+11T>C Single submitter isolated microphthalmia 5
c.1387+14C>A Single submitter isolated microphthalmia 5
c.1387+17T>C Single submitter isolated microphthalmia 5
c.1388-12C>T Single submitter isolated microphthalmia 5
c.1388-14C>T Single submitter isolated microphthalmia 5
c.1388-19del Single submitter isolated microphthalmia 5
c.1388-8C>T Single submitter isolated microphthalmia 5
c.1515+13G>C Single submitter isolated microphthalmia 5
c.1515+20G>A Single submitter isolated microphthalmia 5
c.157+9C>A Single submitter isolated microphthalmia 5
c.158-11C>G Single submitter isolated microphthalmia 5
c.158-17C>T Single submitter isolated microphthalmia 5
c.158-19C>T Single submitter isolated microphthalmia 5
c.158-4G>A Single submitter isolated microphthalmia 5
c.158-5C>T Single submitter isolated microphthalmia 5
c.271+10C>A Single submitter isolated microphthalmia 5
c.271+12G>A Single submitter isolated microphthalmia 5
c.271+19C>T Single submitter isolated microphthalmia 5
c.271+8C>T Single submitter isolated microphthalmia 5
c.272-18C>T Single submitter isolated microphthalmia 5
c.272-8G>A Single submitter isolated microphthalmia 5
c.272-9C>T Single submitter isolated microphthalmia 5
c.427+14G>T Single submitter isolated microphthalmia 5
c.427+18A>T Single submitter isolated microphthalmia 5
c.428-10A>T Single submitter isolated microphthalmia 5
c.428-17A>G Single submitter isolated microphthalmia 5
c.428-19C>G Single submitter isolated microphthalmia 5
c.54+19C>T Single submitter
c.54+20G>A Single submitter isolated microphthalmia 5
c.54+9C>T Single submitter isolated microphthalmia 5
c.55-8C>A Single submitter isolated microphthalmia 5
c.55-8C>G Single submitter isolated microphthalmia 5
c.641+11C>T Single submitter isolated microphthalmia 5
c.641+14dup Single submitter isolated microphthalmia 5
c.641+17C>G Single submitter isolated microphthalmia 5
c.641+19A>C Single submitter isolated microphthalmia 5
c.641+8C>T Single submitter isolated microphthalmia 5
c.642-11G>C Single submitter isolated microphthalmia 5
c.642-15C>A Single submitter isolated microphthalmia 5
c.642-16A>G Single submitter isolated microphthalmia 5
c.642-18C>A Single submitter isolated microphthalmia 5
c.642-19C>A Single submitter isolated microphthalmia 5
c.642-19C>G Single submitter isolated microphthalmia 5
c.642-20C>G Single submitter isolated microphthalmia 5
c.772+10T>C Single submitter isolated microphthalmia 5
c.772+11T>C Single submitter isolated microphthalmia 5
c.772+14_772+15delinsAT Single submitter isolated microphthalmia 5
c.772+15A>G Single submitter isolated microphthalmia 5
c.772+19G>A Single submitter isolated microphthalmia 5
c.772+8T>G Single submitter isolated microphthalmia 5
c.773-17C>G Single submitter isolated microphthalmia 5
c.773-20C>T Single submitter isolated microphthalmia 5
c.898+10A>G Single submitter isolated microphthalmia 5
c.898+11G>A Single submitter isolated microphthalmia 5
c.898+12G>A Single submitter
c.898+15T>C Single submitter isolated microphthalmia 5
c.898+17G>A Single submitter isolated microphthalmia 5
c.898+18G>A Single submitter isolated microphthalmia 5
c.898+19G>C Single submitter isolated microphthalmia 5
c.898+19G>T Single submitter isolated microphthalmia 5
c.898+20G>A Single submitter isolated microphthalmia 5
c.898+7G>A Single submitter isolated microphthalmia 5
c.898+9C>G Single submitter isolated microphthalmia 5
c.899-12A>G Single submitter isolated microphthalmia 5
c.899-15del Single submitter isolated microphthalmia 5
c.899-4A>G Single submitter isolated microphthalmia 5
c.975+12G>C Single submitter isolated microphthalmia 5
c.976-10C>T Single submitter isolated microphthalmia 5
c.976-12G>A Single submitter isolated microphthalmia 5
c.976-4C>G Single submitter isolated microphthalmia 5
c.976-4C>T Single submitter isolated microphthalmia 5
c.976-7C>T Single submitter isolated microphthalmia 5
c.976-8T>C Single submitter isolated microphthalmia 5
c.-31G>A Single submitter
c.*12G>A Single submitter
p.Ala107= Single submitter isolated microphthalmia 5
p.Ala124= Single submitter isolated microphthalmia 5
p.Ala181= Single submitter isolated microphthalmia 5
p.Ala335= Single submitter isolated microphthalmia 5
p.Ala369= Single submitter isolated microphthalmia 5
p.Ala409= Single submitter isolated microphthalmia 5
p.Ala413= Single submitter isolated microphthalmia 5
p.Ala49= Single submitter isolated microphthalmia 5
p.Arg55= Single submitter isolated microphthalmia 5
p.Arg57= Single submitter isolated microphthalmia 5
p.Arg64= Single submitter isolated microphthalmia 5
p.Arg64His Single submitter isolated microphthalmia 5
p.Asn284= Single submitter isolated microphthalmia 5
p.Asp162= Single submitter isolated microphthalmia 5
p.Asp276= Single submitter isolated microphthalmia 5
p.Asp280= Single submitter isolated microphthalmia 5
p.Asp445= Single submitter isolated microphthalmia 5
p.Cys34= Single submitter isolated microphthalmia 5
p.Cys421= Single submitter isolated microphthalmia 5
p.Cys474= Single submitter isolated microphthalmia 5
p.Cys542= Single submitter isolated microphthalmia 5
p.Gln320= Single submitter isolated microphthalmia 5
p.Gln324= Single submitter isolated microphthalmia 5
p.Gln470= Single submitter isolated microphthalmia 5
p.Gln93= Single submitter isolated microphthalmia 5
p.Glu20= Single submitter isolated microphthalmia 5
p.Glu242= Single submitter isolated microphthalmia 5
p.Glu264= Single submitter isolated microphthalmia 5
p.Glu29= Single submitter isolated microphthalmia 5
p.Glu380= Single submitter isolated microphthalmia 5
p.Gly146= Single submitter
p.Gly210= Single submitter isolated microphthalmia 5
p.Gly281= Single submitter isolated microphthalmia 5
p.Gly302= Single submitter isolated microphthalmia 5
p.Gly303= Single submitter isolated microphthalmia 5
p.Gly307= Single submitter isolated microphthalmia 5
p.Gly336= Single submitter isolated microphthalmia 5
p.Gly368= Single submitter isolated microphthalmia 5
p.Gly374= Single submitter isolated microphthalmia 5
p.Gly58= Single submitter isolated microphthalmia 5
p.His547Arg Single submitter Inborn genetic diseases
p.Ile174= Single submitter isolated microphthalmia 5
p.Ile331= Single submitter isolated microphthalmia 5
p.Leu105= Single submitter isolated microphthalmia 5
p.Leu147= Single submitter isolated microphthalmia 5
p.Leu148= Single submitter isolated microphthalmia 5
p.Leu204= Single submitter isolated microphthalmia 5
p.Leu232= Single submitter isolated microphthalmia 5
p.Leu274= Single submitter isolated microphthalmia 5
p.Leu305= Single submitter isolated microphthalmia 5
p.Leu308= Single submitter
p.Leu348= Single submitter isolated microphthalmia 5
p.Leu385= Single submitter isolated microphthalmia 5
p.Leu392= Single submitter isolated microphthalmia 5
p.Leu412= Single submitter
p.Leu556= Single submitter isolated microphthalmia 5
p.Leu573= Single submitter isolated microphthalmia 5
p.Leu68= Single submitter isolated microphthalmia 5
p.Leu71= Single submitter isolated microphthalmia 5
p.Leu76= Single submitter isolated microphthalmia 5
p.Leu77= Single submitter isolated microphthalmia 5
p.Leu79= Single submitter isolated microphthalmia 5
p.Leu80= Single submitter isolated microphthalmia 5
p.Leu92= Single submitter isolated microphthalmia 5
p.Phe155= Single submitter isolated microphthalmia 5
p.Phe356= Single submitter isolated microphthalmia 5
p.Pro104= Single submitter
p.Pro206= Single submitter isolated microphthalmia 5
p.Pro221= Single submitter isolated microphthalmia 5
p.Pro423= Single submitter isolated microphthalmia 5
p.Pro457= Single submitter isolated microphthalmia 5
p.Pro48Ser Single submitter
p.Pro526= Single submitter isolated microphthalmia 5
p.Pro536= Single submitter isolated microphthalmia 5
p.Pro61= Single submitter isolated microphthalmia 5
p.Ser103= Single submitter isolated microphthalmia 5
p.Ser239= Single submitter isolated microphthalmia 5
p.Ser332= Single submitter isolated microphthalmia 5
p.Ser388= Single submitter isolated microphthalmia 5
p.Ser404= Single submitter isolated microphthalmia 5
p.Ser450= Single submitter isolated microphthalmia 5
p.Ser46= Single submitter
p.Ser98= Single submitter isolated microphthalmia 5
p.Thr114= Single submitter isolated microphthalmia 5
p.Thr115= Single submitter isolated microphthalmia 5
p.Thr116= Single submitter isolated microphthalmia 5
p.Thr118= Single submitter
p.Thr127= Single submitter isolated microphthalmia 5
p.Thr143= Single submitter isolated microphthalmia 5
p.Thr410= Single submitter isolated microphthalmia 5
p.Tyr358= Single submitter isolated microphthalmia 5
p.Tyr479= Single submitter isolated microphthalmia 5
p.Val171= Single submitter isolated microphthalmia 5
p.Val194= Single submitter isolated microphthalmia 5
p.Val219= Single submitter isolated microphthalmia 5
p.Val333= Single submitter isolated microphthalmia 5
p.Val469= Single submitter isolated microphthalmia 5
p.Val500= Single submitter isolated microphthalmia 5
p.Val85= Single submitter isolated microphthalmia 5
p.Ala25= No assertion criteria MFRP-related disorder

Uncertain significance 339

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala100Val Multiple submitters Inborn genetic diseases ⚠
p.Ala124Val Multiple submitters isolated microphthalmia 5 ⚠
p.Ala195Thr Multiple submitters isolated microphthalmia 5 ⚠
p.Ala248Val Multiple submitters Inborn genetic diseases
p.Ala254Val Multiple submitters isolated microphthalmia 5 ⚠
p.Ala545Val Multiple submitters isolated microphthalmia 5 ⚠
p.Ala86Asp Multiple submitters isolated microphthalmia 5 ⚠
p.Arg201His Multiple submitters isolated microphthalmia 5 ⚠
p.Arg201Ser Multiple submitters isolated microphthalmia 5 ⚠
p.Arg257Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg266Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg375Ser Multiple submitters isolated microphthalmia 5 ⚠
p.Arg517Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg527Cys Multiple submitters Inborn genetic diseases
p.Arg539His Multiple submitters isolated microphthalmia 5 ⚠
p.Arg54Gln Multiple submitters isolated microphthalmia 5 ⚠
p.Arg54Trp Multiple submitters isolated microphthalmia 5 ⚠
p.Arg55His Multiple submitters isolated microphthalmia 5 ⚠
p.Arg60Trp Multiple submitters isolated microphthalmia 5 ⚠
p.Arg64Cys Multiple submitters isolated microphthalmia 5 ⚠
p.Asn159Lys Multiple submitters isolated microphthalmia 5 ⚠
p.Asn23Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn284Ser Multiple submitters isolated microphthalmia 5 ⚠
p.Asp276Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp451Asn Multiple submitters isolated microphthalmia 5 ⚠
p.Gln183Arg Multiple submitters isolated microphthalmia 5 ⚠
p.Gln319Pro Multiple submitters isolated microphthalmia 5 ⚠
p.Gln324Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln514His Multiple submitters isolated microphthalmia 5 ⚠
p.Glu187Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu20Lys Multiple submitters isolated microphthalmia 5 ⚠
p.Glu353Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu41Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly135Val Multiple submitters Inborn genetic diseases ⚠
p.Gly245Val Multiple submitters Inborn genetic diseases ⚠
p.Gly258Arg Multiple submitters isolated microphthalmia 5 ⚠
p.Gly307Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly336Arg Multiple submitters isolated microphthalmia 5
p.Gly368Glu Multiple submitters isolated microphthalmia 5 ⚠
p.Gly456Ser Multiple submitters isolated microphthalmia 5 ⚠
p.Gly503Ser Multiple submitters isolated microphthalmia 5 ⚠
p.His169Arg Multiple submitters isolated microphthalmia 5 ⚠
p.His230Tyr Multiple submitters Inborn genetic diseases ⚠
p.His247Tyr Multiple submitters isolated microphthalmia 5 ⚠
p.His262Gln Multiple submitters Inborn genetic diseases ⚠
p.His384Asn Multiple submitters isolated microphthalmia 5 ⚠
p.His390Pro Multiple submitters isolated microphthalmia 5 ⚠
p.Ile182Met Multiple submitters isolated microphthalmia 5 ⚠
p.Ile339Val Multiple submitters isolated microphthalmia 5 ⚠
p.Leu305Pro Multiple submitters isolated microphthalmia 5 ⚠
p.Leu523Val Multiple submitters Inborn genetic diseases ⚠
p.Met253Thr Multiple submitters isolated microphthalmia 5 ⚠
p.Phe199Ser Multiple submitters isolated microphthalmia 5 ⚠
p.Pro117Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro151Ala Multiple submitters isolated microphthalmia 5 ⚠
p.Pro151Gln Multiple submitters isolated microphthalmia 5 ⚠
p.Pro158Ser Multiple submitters isolated microphthalmia 5 ⚠
p.Pro165Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro165Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro166Arg Multiple submitters isolated microphthalmia 5 ⚠
p.Pro166Ser Multiple submitters isolated microphthalmia 5 ⚠
p.Pro206Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro221Thr Multiple submitters isolated microphthalmia 5
p.Pro322Leu Multiple submitters isolated microphthalmia 5
p.Pro382Ala Multiple submitters isolated microphthalmia 5
p.Pro383Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro383His Multiple submitters Inborn genetic diseases ⚠
p.Pro420Ala Multiple submitters isolated microphthalmia 5 ⚠
p.Pro423Ala Multiple submitters isolated microphthalmia 5 ⚠
p.Pro48Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro568Ser Multiple submitters isolated microphthalmia 5 ⚠
p.Pro96Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser137Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser190Arg Multiple submitters isolated microphthalmia 5 ⚠
p.Ser193Asn Multiple submitters isolated microphthalmia 5 ⚠
p.Ser196Phe Multiple submitters isolated microphthalmia 5 ⚠
p.Ser299Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser533Asn Multiple submitters isolated microphthalmia 5 ⚠
p.Thr112Met Multiple submitters late-onset retinal degeneration ⚠
p.Thr115Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr223Met Multiple submitters isolated microphthalmia 5 ⚠
p.Thr314Asn Multiple submitters isolated microphthalmia 5 ⚠
p.Thr398Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr417Met Multiple submitters Inborn genetic diseases ⚠
p.Thr558Asn Multiple submitters Inborn genetic diseases ⚠
p.Trp67Ser Multiple submitters Inborn genetic diseases ⚠
p.Val171Met Multiple submitters inherited retinal dystrophy ⚠
p.Val236Ile Multiple submitters isolated microphthalmia 5 ⚠
p.Val278Ala Multiple submitters Inborn genetic diseases ⚠
p.Val359Met Multiple submitters Inborn genetic diseases ⚠
p.Val386Ile Multiple submitters isolated microphthalmia 5 ⚠
p.Val498Ala Multiple submitters Inborn genetic diseases ⚠
c.1124+5A>G Single submitter isolated microphthalmia 5
c.1125-138G>A Single submitter
c.1255+4G>C Single submitter isolated microphthalmia 5
c.1255+5G>A Single submitter isolated microphthalmia 5
c.1388-11C>T Single submitter isolated microphthalmia 5
c.1516-5C>A Single submitter
c.272-3C>T Single submitter isolated microphthalmia 5
c.642-3C>T Single submitter isolated microphthalmia 5
c.975+10G>A Single submitter isolated microphthalmia 5
c.976-3C>G Single submitter isolated microphthalmia 5
c.*116C>T Single submitter isolated microphthalmia 5
c.*126G>C Single submitter isolated microphthalmia 5
c.*178C>T Single submitter isolated microphthalmia 5
c.*198G>C Single submitter isolated microphthalmia 5
c.*234C>A Single submitter isolated microphthalmia 5
c.*316C>G Single submitter isolated microphthalmia 5
c.*39T>C Single submitter isolated microphthalmia 5
c.*496G>A Single submitter isolated microphthalmia 5
c.*61G>T Single submitter isolated microphthalmia 5
c.*652G>A Single submitter isolated microphthalmia 5
c.*853+1dup Single submitter nanophthalmos 2
c.*9C>G Single submitter isolated microphthalmia 5
p.Ala181Ser Single submitter isolated microphthalmia 5
p.Ala181Thr Single submitter isolated microphthalmia 5
p.Ala181Val Single submitter isolated microphthalmia 5 ⚠
p.Ala261Thr Single submitter isolated microphthalmia 5 ⚠
p.Ala261Val Single submitter isolated microphthalmia 5 ⚠
p.Ala283Val Single submitter isolated microphthalmia 5 ⚠
p.Ala296Ser Single submitter Inborn genetic diseases ⚠
p.Ala369Thr Single submitter Inborn genetic diseases ⚠
p.Ala369Val Single submitter isolated microphthalmia 5 ⚠
p.Ala409Asp Single submitter isolated microphthalmia 5 ⚠
p.Ala43Thr Single submitter isolated microphthalmia 5 ⚠
p.Ala465Val Single submitter ⚠
p.Ala545Thr Single submitter ⚠
p.Ala95Val Single submitter isolated microphthalmia 5 ⚠
p.Arg152Ser Single submitter isolated microphthalmia 5 ⚠
p.Arg201Leu Single submitter isolated microphthalmia 5 ⚠
p.Arg214Trp Single submitter isolated microphthalmia 5 ⚠
p.Arg518Lys Single submitter isolated microphthalmia 5 ⚠
p.Arg527His Single submitter isolated microphthalmia 5 ⚠
p.Arg57Gln Single submitter isolated microphthalmia 5 ⚠
p.Arg57Leu Single submitter isolated microphthalmia 5 ⚠
p.Arg60Gln Single submitter isolated microphthalmia 5 ⚠
p.Arg60Leu Single submitter ⚠
p.Arg64Gly Single submitter isolated microphthalmia 5 ⚠
p.Asn159Asp Single submitter isolated microphthalmia 5 ⚠
p.Asn23Lys Single submitter isolated microphthalmia 5 ⚠
p.Asn304Ser Single submitter Inborn genetic diseases ⚠
p.Asn345Lys Single submitter Inborn genetic diseases ⚠
p.Asn419Lys Single submitter isolated microphthalmia 5 ⚠
p.Asn486Lys Single submitter isolated microphthalmia 5 ⚠
p.Asp238Gly Single submitter ⚠
p.Asp268Glu Single submitter Inborn genetic diseases ⚠
p.Asp290Glu Single submitter isolated microphthalmia 5 ⚠
p.Asp357= Single submitter isolated microphthalmia 5
p.Asp42His Single submitter isolated microphthalmia 5 ⚠
p.Asp445Gly Single submitter isolated microphthalmia 5 ⚠
p.Asp451Val Single submitter isolated microphthalmia 5 ⚠
p.Asp452Asn Single submitter Inborn genetic diseases ⚠
p.Asp62Asn Single submitter isolated microphthalmia 5 ⚠
p.Cys10Arg Single submitter inherited retinal dystrophy ⚠
p.Cys170= Single submitter isolated microphthalmia 5
p.Cys216Tyr Single submitter isolated microphthalmia 5 ⚠
p.Cys260Ser Single submitter isolated microphthalmia 5 ⚠
p.Cys285Arg Single submitter isolated microphthalmia 5 ⚠
p.Cys294Arg Single submitter isolated microphthalmia 5 ⚠
p.Cys301Arg Single submitter isolated microphthalmia 5 ⚠
p.Cys327Trp Single submitter Inborn genetic diseases ⚠
p.Cys354Tyr Single submitter isolated microphthalmia 5 ⚠
p.Cys433Arg Single submitter isolated microphthalmia 5 ⚠
p.Cys446Tyr Single submitter isolated microphthalmia 5 ⚠
p.Cys454Trp Single submitter isolated microphthalmia 5 ⚠
p.Cys512Tyr Single submitter ⚠
p.Gln320Arg Single submitter isolated microphthalmia 5 ⚠
p.Gln342Pro Single submitter isolated microphthalmia 5 ⚠
p.Gln93Arg Single submitter Inborn genetic diseases ⚠
p.Gln93His Single submitter isolated microphthalmia 5 ⚠
p.Glu15Val Single submitter ⚠
p.Glu242Lys Single submitter isolated microphthalmia 5 ⚠
p.Glu27Gln Single submitter isolated microphthalmia 5 ⚠
p.Glu27Lys Single submitter isolated microphthalmia 5 ⚠
p.Glu291Lys Single submitter isolated microphthalmia 5 ⚠
p.Glu29Lys Single submitter isolated microphthalmia 5 ⚠
p.Glu340Lys Single submitter isolated microphthalmia 5 ⚠
p.Glu363Gly Single submitter ⚠
p.Glu418Asp Single submitter Inborn genetic diseases ⚠
p.Glu41Gln Single submitter isolated microphthalmia 5 ⚠
p.Glu41Gly Single submitter isolated microphthalmia 5 ⚠
p.Glu472Lys Single submitter isolated microphthalmia 5 ⚠
p.Glu495Ala Single submitter isolated microphthalmia 5 ⚠
p.Glu495Lys Single submitter Inborn genetic diseases ⚠
p.Glu496Asp Single submitter Inborn genetic diseases
p.Glu496Lys Single submitter isolated microphthalmia 5
p.Glu499Asp Single submitter Inborn genetic diseases ⚠
p.Glu544Ala Single submitter isolated microphthalmia 5 ⚠
p.Glu546Ala Single submitter isolated microphthalmia 5 ⚠
p.Glu569Gln Single submitter Inborn genetic diseases ⚠
p.Gly108Arg Single submitter isolated microphthalmia 5 ⚠
p.Gly109Asp Single submitter isolated microphthalmia 5 ⚠
p.Gly109Cys Single submitter isolated microphthalmia 5 ⚠
p.Gly130Arg Single submitter Inborn genetic diseases ⚠
p.Gly135= Single submitter isolated microphthalmia 5
p.Gly146Asp Single submitter isolated microphthalmia 5
p.Gly146Ser Single submitter isolated microphthalmia 5 ⚠
p.Gly153Ser Single submitter isolated microphthalmia 5 ⚠
p.Gly210Asp Single submitter isolated microphthalmia 5 ⚠
p.Gly217Glu Single submitter isolated microphthalmia 5 ⚠
p.Gly243Glu Single submitter isolated microphthalmia 5 ⚠
p.Gly245Ser Single submitter isolated microphthalmia 5 ⚠
p.Gly258Trp Single submitter ⚠
p.Gly281Ala Single submitter isolated microphthalmia 5 ⚠
p.Gly310Ser Single submitter ⚠
p.Gly378Arg Single submitter isolated microphthalmia 5 ⚠
p.Gly406Asp Single submitter Inborn genetic diseases ⚠
p.Gly435Val Single submitter isolated microphthalmia 5 ⚠
p.Gly456Val Single submitter isolated microphthalmia 5 ⚠
p.Gly476Ala Single submitter isolated microphthalmia 5 ⚠
p.Gly476Ser Single submitter isolated microphthalmia 5 ⚠
p.Gly503Val Single submitter isolated microphthalmia 5 ⚠
p.Gly522Glu Single submitter ⚠
p.Gly552Val Single submitter isolated microphthalmia 5 ⚠
p.His169Tyr Single submitter isolated microphthalmia 5 ⚠
p.His262Arg Single submitter isolated microphthalmia 5 ⚠
p.His323Arg Single submitter isolated microphthalmia 5 ⚠
p.His330Arg Single submitter isolated microphthalmia 5 ⚠
p.His337Arg Single submitter isolated microphthalmia 5 ⚠
p.His384Asp Single submitter isolated microphthalmia 5 ⚠
p.His389Gln Single submitter isolated microphthalmia 5 ⚠
p.His390Asp Single submitter Inborn genetic diseases ⚠
p.His547Gln Single submitter isolated microphthalmia 5 ⚠
p.His547Tyr Single submitter isolated microphthalmia 5 ⚠
p.Ile182Lys Single submitter isolated microphthalmia 5 ⚠
p.Ile186Met Single submitter ⚠
p.Ile186Thr Single submitter Inborn genetic diseases ⚠
p.Ile271Thr Single submitter Inborn genetic diseases ⚠
p.Ile492Asn Single submitter isolated microphthalmia 5 ⚠
p.Leu105Gln Single submitter Inborn genetic diseases ⚠
p.Leu105Pro Single submitter isolated microphthalmia 5 ⚠
p.Leu110Phe Single submitter isolated microphthalmia 5 ⚠
p.Leu148Arg Single submitter isolated microphthalmia 5 ⚠
p.Leu148Pro Single submitter isolated microphthalmia 5 ⚠
p.Leu148Val Single submitter Inborn genetic diseases ⚠
p.Leu184Arg Single submitter isolated microphthalmia 5 ⚠
p.Leu189Pro Single submitter isolated microphthalmia 5 ⚠
p.Leu224Phe Single submitter isolated microphthalmia 5 ⚠
p.Leu325Met Single submitter ⚠
p.Leu348Pro Single submitter ⚠
p.Leu372Phe Single submitter Inborn genetic diseases ⚠
p.Leu372Val Single submitter isolated microphthalmia 5 ⚠
p.Leu412Pro Single submitter ⚠
p.Leu510Pro Single submitter isolated microphthalmia 5 ⚠
p.Leu520= Single submitter isolated microphthalmia 5
p.Leu535Pro Single submitter isolated microphthalmia 5
p.Leu573Arg Single submitter isolated microphthalmia 5 ⚠
p.Leu89Pro Single submitter isolated microphthalmia 5 ⚠
p.Lys129Arg Single submitter Inborn genetic diseases ⚠
p.Lys129Gln Single submitter isolated microphthalmia 5 ⚠
p.Lys505Gln Single submitter isolated microphthalmia 5 ⚠
p.Met11Ile Single submitter isolated microphthalmia 5 ⚠
p.Met11Leu Single submitter ⚠
p.Met11Thr Single submitter Inborn genetic diseases ⚠
p.Met253Leu Single submitter isolated microphthalmia 5 ⚠
p.Met442Ile Single submitter isolated microphthalmia 5 ⚠
p.Phe155Leu Single submitter isolated microphthalmia 5 ⚠
p.Phe21Leu Single submitter isolated microphthalmia 5 ⚠
p.Phe265Ser Single submitter isolated microphthalmia 5 ⚠
p.Phe356Cys Single submitter Inborn genetic diseases ⚠
p.Phe370Ser Single submitter isolated microphthalmia 5 ⚠
p.Phe396Leu Single submitter Inborn genetic diseases ⚠
p.Phe484Ile Single submitter ⚠
p.Phe562Ser Single submitter Inborn genetic diseases ⚠
p.Phe65Ser Single submitter isolated microphthalmia 5
p.Pro106Leu Single submitter Inborn genetic diseases ⚠
p.Pro117Thr Single submitter isolated microphthalmia 5 ⚠
p.Pro151Leu Single submitter isolated microphthalmia 5 ⚠
p.Pro165Arg Single submitter isolated microphthalmia 5
p.Pro165His Single submitter
p.Pro166= Single submitter isolated microphthalmia 5
p.Pro166Thr Single submitter isolated microphthalmia 5 ⚠
p.Pro206Arg Single submitter isolated microphthalmia 5 ⚠
p.Pro208Ala Single submitter isolated microphthalmia 5 ⚠
p.Pro222Arg Single submitter isolated microphthalmia 5 ⚠
p.Pro222Leu Single submitter isolated microphthalmia 5 ⚠
p.Pro275Arg Single submitter Inborn genetic diseases ⚠
p.Pro32Gln Single submitter Inborn genetic diseases ⚠
p.Pro32Leu Single submitter isolated microphthalmia 5 ⚠
p.Pro37Ser Single submitter Inborn genetic diseases ⚠
p.Pro37Thr Single submitter Inborn genetic diseases ⚠
p.Pro382His Single submitter ⚠
p.Pro382Ser Single submitter isolated microphthalmia 5 ⚠
p.Pro383Leu Single submitter isolated microphthalmia 5 ⚠
p.Pro423Ser Single submitter ⚠
p.Pro461Ala Single submitter isolated microphthalmia 5 ⚠
p.Pro461Thr Single submitter isolated microphthalmia 5 ⚠
p.Pro462= Single submitter isolated microphthalmia 5
p.Pro462Arg Single submitter isolated microphthalmia 5 ⚠
p.Pro526Ser Single submitter ⚠
p.Pro537= Single submitter isolated microphthalmia 5
p.Pro61Ser Single submitter isolated microphthalmia 5 ⚠
p.Ser103Arg Single submitter Inborn genetic diseases ⚠
p.Ser122Phe Single submitter isolated microphthalmia 5 ⚠
p.Ser122Pro Single submitter isolated microphthalmia 5 ⚠
p.Ser142Tyr Single submitter isolated microphthalmia 5 ⚠
p.Ser149Cys Single submitter ⚠
p.Ser16Leu Single submitter isolated microphthalmia 5 ⚠
p.Ser193Ile Single submitter ⚠
p.Ser229Gly Single submitter ⚠