KERA — 96 ClinVar variants
All ClinVar germline KERA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
10 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 2 Conflicting · 5 Benign · 15 Likely benign · 57 Uncertain significance
Full KERA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 lean, ClinVar uncertain 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KERA p.Arg323Cys Uncertain significance Multiple submitters
- KERA p.Pro43His Uncertain significance Multiple submitters
- KERA p.Ala116Ser Uncertain significance Single submitter
- KERA p.Ala182Thr Uncertain significance Single submitter
- KERA p.Ala240Val Uncertain significance Single submitter
- KERA p.Ala282Val Uncertain significance Single submitter
- KERA p.Ala349Val Uncertain significance Single submitter
- KERA p.Ala68Val Uncertain significance Single submitter
- KERA p.Arg142Gly Uncertain significance Single submitter
- KERA p.Arg185Lys Uncertain significance Single submitter
- KERA p.Arg185Ser Uncertain significance Single submitter
- KERA p.Arg323His Uncertain significance Single submitter
- KERA p.Asn103Ser Uncertain significance Single submitter
- KERA p.Asn131Ser Uncertain significance Single submitter
- KERA p.Asn175Lys Uncertain significance Single submitter
- KERA p.Asn206Ile Uncertain significance Single submitter
- KERA p.Asn247Asp Uncertain significance Single submitter
- KERA p.Asn272Ser Uncertain significance Single submitter
- KERA p.Asp186Asn Uncertain significance Single submitter
- KERA p.Asp266Gly Uncertain significance Single submitter
- KERA p.Asp31His Uncertain significance Single submitter
- KERA p.Asp34Gly Uncertain significance Single submitter
- KERA p.Cys303Arg Uncertain significance Single submitter
- KERA p.Cys58Tyr Uncertain significance Single submitter
- KERA p.Glu92Asp Uncertain significance Single submitter
-
KERA p.Gly111Arg
Uncertain significance
Single submitter
cornea plana 2
- KERA p.Gly227Arg Uncertain significance Single submitter
- KERA p.Ile37Thr Uncertain significance Single submitter
- KERA p.Ile86Val Uncertain significance Single submitter
- KERA p.Leu124Phe Uncertain significance Single submitter
- KERA p.Leu168Pro Uncertain significance Single submitter
- KERA p.Lys276Asn Uncertain significance Single submitter
- KERA p.Met199Ile Uncertain significance Single submitter
- KERA p.Met44Thr Uncertain significance Single submitter
- KERA p.Met9Lys Uncertain significance Single submitter
- KERA p.Phe13Tyr Uncertain significance Single submitter
- KERA p.Pro304Ala Uncertain significance Single submitter
- KERA p.Pro70Arg Uncertain significance Single submitter
- KERA p.Ser118Asn Uncertain significance Single submitter
- KERA p.Ser305Arg Uncertain significance Single submitter
- KERA p.Thr15Ile Uncertain significance Single submitter
- KERA p.Trp19Arg Uncertain significance Single submitter
- KERA p.Val299Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- KERA p.Ala240Asp Uncertain significance Single submitter
- KERA p.Ala349Pro Uncertain significance Single submitter
- KERA p.Asn198Lys Uncertain significance Single submitter
- KERA p.Glu59Ala Uncertain significance Single submitter
- KERA p.Ile236Thr Uncertain significance Single submitter
- KERA p.Leu197Val Uncertain significance Single submitter
- KERA p.Lys248Thr Uncertain significance Single submitter
- KERA p.Met195Thr Uncertain significance Single submitter
- KERA p.Met207Ile Uncertain significance Single submitter
-
KERA p.Pro208Arg
Uncertain significance
Single submitter
cornea plana 2
-
KERA p.Tyr77His
Uncertain significance
Single submitter
cornea plana 2
All KERA variants
Pathogenic 10
- p.Arg279Ter Multiple submitters cornea plana 2
- p.Asn247Ser Multiple submitters KERA-related disorders
- p.Arg313Ter Single submitter cornea plana 2
- p.Pro70Leu Single submitter
- p.Ser250fs Single submitter
- p.Ser270Ter Single submitter
- p.Trp19fs Single submitter
- p.Gln174Ter No assertion criteria cornea plana 2
- p.Ile107Arg No assertion criteria cornea plana 2
- p.Thr215Lys No assertion criteria cornea plana 2
Pathogenic/Likely pathogenic 1
- p.Ser118fs Multiple submitters
Likely pathogenic 6
- p.Asn176Lys Single submitter cornea plana 2
- p.Asn81Ser Single submitter cornea plana 2
- p.Ile112fs Single submitter cornea plana 2
- p.Leu12_Phe13insTer Single submitter cornea plana 2
- p.Ser256Ter Single submitter KERA-related disorders
- p.Asn131Asp No assertion criteria cornea plana 2
Conflicting classifications of pathogenicity 2
- p.Cys343fs Single submitter cornea plana 2
- p.Tyr232Ter Single submitter
Benign 5
- c.887-8C>T Multiple submitters
- p.Gln25= Multiple submitters
- p.Val23= Multiple submitters cornea plana 2
- p.Ile69= Single submitter
- p.Phe183= Single submitter
Likely benign 15
- c.-2T>C Single submitter
- p.Arg205= Single submitter
- p.Arg243= Single submitter
- p.Arg279Gln Single submitter
- p.Arg313Gln Single submitter
- p.Gln285= Single submitter
- p.Leu117= Single submitter
- p.Leu149= Single submitter
- p.Leu220= Single submitter
- p.Leu249= Single submitter
- p.Leu82= Single submitter
- p.Met44Val Single submitter
- p.Phe13Leu Single submitter
- p.Thr108= Single submitter
- p.Phe40= No assertion criteria KERA-related disorder
Uncertain significance 57
- p.Arg323Cys Multiple submitters ⚠
- p.Pro43His Multiple submitters ⚠
- p.Ala116Ser Single submitter ⚠
- p.Ala182Thr Single submitter ⚠
- p.Ala240Asp Single submitter ⚠
- p.Ala240Val Single submitter ⚠
- p.Ala282Val Single submitter ⚠
- p.Ala349Pro Single submitter ⚠
- p.Ala349Val Single submitter ⚠
- p.Ala68Val Single submitter ⚠
- p.Arg142Gly Single submitter ⚠
- p.Arg185Lys Single submitter ⚠
- p.Arg185Ser Single submitter ⚠
- p.Arg323His Single submitter ⚠
- p.Asn103Ser Single submitter ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asn175Lys Single submitter ⚠
- p.Asn198Lys Single submitter ⚠
- p.Asn206Ile Single submitter ⚠
- p.Asn247Asp Single submitter ⚠
- p.Asn272Ser Single submitter ⚠
- p.Asp186Asn Single submitter ⚠
- p.Asp266Gly Single submitter ⚠
- p.Asp31His Single submitter ⚠
- p.Asp34Gly Single submitter ⚠
- p.Cys303Arg Single submitter ⚠
- p.Cys58Tyr Single submitter ⚠
- p.Glu59Ala Single submitter ⚠
- p.Glu92Asp Single submitter ⚠
- p.Gly111Arg Single submitter cornea plana 2 ⚠
- p.Gly227Arg Single submitter ⚠
- p.Ile236Thr Single submitter ⚠
- p.Ile37Thr Single submitter ⚠
- p.Ile86Val Single submitter ⚠
- p.Leu124Phe Single submitter ⚠
- p.Leu168Pro Single submitter ⚠
- p.Leu197Val Single submitter ⚠
- p.Lys248Thr Single submitter ⚠
- p.Lys276Asn Single submitter ⚠
- p.Met195Thr Single submitter ⚠
- p.Met199Ile Single submitter ⚠
- p.Met1Val Single submitter
- p.Met207Ile Single submitter ⚠
- p.Met44Thr Single submitter ⚠
- p.Met9Lys Single submitter ⚠
- p.Phe13Tyr Single submitter ⚠
- p.Pro158Leu Single submitter
- p.Pro208Arg Single submitter cornea plana 2 ⚠
- p.Pro304Ala Single submitter ⚠
- p.Pro70Arg Single submitter ⚠
- p.Ser118Asn Single submitter ⚠
- p.Ser22= Single submitter
- p.Ser305Arg Single submitter ⚠
- p.Thr15Ile Single submitter ⚠
- p.Trp19Arg Single submitter ⚠
- p.Tyr77His Single submitter cornea plana 2 ⚠
- p.Val299Ile Single submitter ⚠