EPHA2 — 443 ClinVar variants

All ClinVar germline EPHA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →

12 Pathogenic · 9 Likely pathogenic · 17 Conflicting · 73 Benign · 15 Benign/Likely benign · 80 Likely benign · 237 Uncertain significance

Full EPHA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 222

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 11

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

EPHA2 p.Ala959Thr Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Arg561Lys Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Arg677His Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Gln968His Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Gly662Ser Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Pro571Leu Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Thr605Ile Conflicting Single submitter
EPHA2-related disorders
EPHA2 p.Thr898Met Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Val550Leu Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Val574Ile Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Val747Ile Conflicting Single submitter
cataract 6 multiple types

Predictors lean, ClinVar uncertain 160

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 160

EPHA2 p.Ala321Val Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Arg175His Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Arg315Trp Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Arg428His Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Arg560His Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Arg566His Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Arg615Trp Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Arg677Cys Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Arg792Trp Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Asp148Asn Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Asp53Asn Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Cys309Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Gln955Pro Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Glu308Asp Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Gly217Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Gly377Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Gly540Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Thr336Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Thr526Met Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Thr605Ala Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Ala146Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ala20Thr Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ala216Thr Uncertain significance Single submitter
EPHA2 p.Ala220Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ala36Val Uncertain significance Single submitter
EPHA2 p.Ala37Thr Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ala725Gly Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Ala742Gly Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg137His Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg347His Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg357His Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg394His Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg474His Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg486His Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg657Pro Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg705Gln Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg705Gly Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg705Trp Uncertain significance Single submitter
EPHA2 p.Arg721Trp Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg816Pro Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg82Cys Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg835Trp Uncertain significance Single submitter
EPHA2 p.Arg907Cys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg957His Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg957Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asn598Ser Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asn71Ile Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asn79Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asn831Asp Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asp127His Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asp250Asn Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asp590Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asp659Gly Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asp799Asn Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Cys273Phe Uncertain significance Single submitter
EPHA2 p.Gln599Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu157Lys Uncertain significance Single submitter
EPHA2 p.Glu241Ala Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu242Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu242Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu270Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu308Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu367Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu375Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu380Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu445Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu488Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu626Lys Uncertain significance Single submitter
EPHA2 p.Glu769Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu911Lys Uncertain significance Single submitter
EPHA2 p.Glu923Gln Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Gly15Cys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Gly228Ser Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Gly240Ala Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Gly265Asp Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Gly26Val Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Gly312Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Gly355Arg Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Gly39Arg Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Gly514Cys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Gly651Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Gly709Asp Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Gly777Ser Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Gly900Ser Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.His233Tyr Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.His333Arg Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.His522Arg Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.His559Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.His609Arg Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.His609Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ile215Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ile675Val Uncertain significance Single submitter
EPHA2 p.Ile867Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ile933Met Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ile976Phe Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Leu173Phe Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Leu3Phe Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Leu504Gln Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Leu602Ser Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Leu678Pro Uncertain significance Single submitter
EPHA2 p.Leu849Phe Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Lys141Asn Uncertain significance Single submitter
EPHA2 p.Lys282Glu Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Lys629Arg Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Lys638Arg Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Met340Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Met406Thr Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Met406Val Uncertain significance Single submitter
EPHA2 p.Met66Thr Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Phe660Ile Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro238Ala Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro238Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro289Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro329Ser Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Pro389Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro389Ser Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro440Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro460Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro529Leu Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Pro63Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro63Thr Uncertain significance Single submitter
EPHA2 p.Pro862Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser153Asn Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser154Asn Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser322Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser433Gly Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser453Ile Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser457Gly Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Ser635Phe Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser636Leu Uncertain significance Single submitter
EPHA2 p.Ser761Thr Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser790Ala Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser901Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser915Pro Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Thr101Ile Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Thr132Ala Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Thr132Ile Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Thr349Ala Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Thr812Ser Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Thr838Ala Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Thr883Ser Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Thr922Met Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Trp14Gly Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Trp348Cys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Trp912Cys Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Tyr469His Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Tyr67Cys Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Val235Met Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Val364Ile Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Val574Phe Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 51

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

EPHA2 p.Arg195Cys Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Arg876His Benign Multiple submitters
cataract 6 multiple types
EPHA2 p.Asp888Asn Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Pro172Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Ser373Phe Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Thr511Met Benign/Likely benign Multiple submitters
cataract 6 multiple types
EPHA2 p.Val170Met Uncertain significance Multiple submitters
cataract 6 multiple types
EPHA2 p.Val418Ile Uncertain significance Multiple submitters
Inborn genetic diseases
EPHA2 p.Val541Met Benign/Likely benign Multiple submitters
cataract 6 multiple types
EPHA2 p.Ala275Thr Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Ala316Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ala331Thr Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg137Cys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg175Cys Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Arg175Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg394Cys Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg425Gly Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg425Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg474Cys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Arg485Cys Uncertain significance Single submitter
EPHA2 p.Arg485Ser Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg486Cys Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg566Cys Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Arg950Pro Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Asn674His Uncertain significance Single submitter
EPHA2 p.Gln715His Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Glu523Lys Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Glu679Gln Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Glu934Lys Uncertain significance Single submitter
EPHA2 p.Gly356Asp Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Gly544Asp Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Leu41Pro Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Lys200Asn Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Met733Val Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro328Ser Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Pro371His Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser373Cys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Ser455Phe Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Ser528Cys Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Thr297Met Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Thr326Ala Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Thr349Met Conflicting Single submitter
cataract 6 multiple types
EPHA2 p.Thr838Lys Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Thr908Met Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Trp467Arg Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Val466Leu Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Val589Met Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Val601Leu Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Val641Ala Uncertain significance Single submitter
Inborn genetic diseases
EPHA2 p.Val69Met Uncertain significance Single submitter
cataract 6 multiple types
EPHA2 p.Trp819Gly Likely benign No assertion criteria
EPHA2-related disorder

All EPHA2 variants

Pathogenic 12

c.2826-9G>A Multiple submitters EPHA2-related disorders
c.2815_2825+9del Single submitter cataract 6 multiple types
c.2825+2del Single submitter cataract 6 multiple types
p.Gln968fs Single submitter cataract 6 multiple types
p.Gly964fs Single submitter
p.Ser330fs Single submitter cataract 6 multiple types
p.Trp14Ter Single submitter aniridia
p.Trp253Ter Single submitter cataract 6 multiple types
p.Val810fs Single submitter cataract 6 multiple types
p.Val972fs Single submitter cataract 6 multiple types
p.Gly948Trp No assertion criteria cataract 6 multiple types
p.Thr940Ile No assertion criteria cataract 6 multiple types

Likely pathogenic 9

c.1582+1G>A Single submitter cataract 6 multiple types
c.2475+1G>A Single submitter cataract 6 multiple types
c.2825+2T>C Single submitter EPHA2-related disorders
p.Ala785Thr Single submitter cataract 6 multiple types
p.Gln669His Single submitter
p.Gly240fs Single submitter EPHA2-related disorders
p.Gly964Ter Single submitter Structural eye disease
p.Ile976fs Single submitter EPHA2-related disorder
p.Met1Val Single submitter EPHA2-related disorders

Conflicting classifications of pathogenicity 17

p.Ala959Thr Single submitter cataract 6 multiple types ⚠
p.Arg175Cys Single submitter cataract 6 multiple types ⚠
p.Arg561Lys Single submitter cataract 6 multiple types ⚠
p.Arg677His Single submitter cataract 6 multiple types ⚠
p.Arg721Gln Single submitter cataract 6 multiple types
p.Asp799= Single submitter cataract 6 multiple types
p.Asp942= Single submitter cataract 6 multiple types
p.Gln968His Single submitter cataract 6 multiple types ⚠
p.Glu523Lys Single submitter cataract 6 multiple types ⚠
p.Gly662Ser Single submitter cataract 6 multiple types ⚠
p.Pro571Leu Single submitter cataract 6 multiple types ⚠
p.Thr349Met Single submitter cataract 6 multiple types ⚠
p.Thr605Ile Single submitter EPHA2-related disorders ⚠
p.Thr898Met Single submitter cataract 6 multiple types ⚠
p.Val550Leu Single submitter cataract 6 multiple types ⚠
p.Val574Ile Single submitter cataract 6 multiple types ⚠
p.Val747Ile Single submitter cataract 6 multiple types ⚠

Benign 73

c.1312+88A>G Multiple submitters
c.1428+150C>T Multiple submitters
c.1428+16G>A Multiple submitters cataract 6 multiple types
c.1429-149G>A Multiple submitters
c.1583-59C>T Multiple submitters
c.1682+123C>T Multiple submitters
c.1682+267C>T Multiple submitters
c.1683-131A>G Multiple submitters
c.1738+16C>T Multiple submitters cataract 6 multiple types
c.1864+12C>T Multiple submitters cataract 6 multiple types
c.2053+168A>T Multiple submitters
c.2053+38G>A Multiple submitters
c.2115+25G>A Multiple submitters
c.2116-46G>A Multiple submitters
c.2475+29T>C Multiple submitters
c.2670-92C>T Multiple submitters
c.2826-61C>T Multiple submitters
c.824-11G>A Multiple submitters cataract 6 multiple types
c.86-9C>T Multiple submitters cataract 6 multiple types
c.*166G>A Multiple submitters cataract 6 multiple types
c.*297G>A Multiple submitters cataract 6 multiple types
c.*355A>G Multiple submitters cataract 6 multiple types
c.*443T>C Multiple submitters cataract 6 multiple types
c.*659T>A Multiple submitters cataract 6 multiple types
p.Ala190= Multiple submitters cataract 6 multiple types
p.Ala216= Multiple submitters cataract 6 multiple types
p.Ala699= Multiple submitters cataract 6 multiple types
p.Arg876His Multiple submitters cataract 6 multiple types ⚠
p.Asp232Gly Multiple submitters cataract 6 multiple types
p.Asp496Asn Multiple submitters cataract 6 multiple types
p.Gly391Arg Multiple submitters cataract 6 multiple types
p.Gly973= Multiple submitters cataract 6 multiple types
p.His390= Multiple submitters cataract 6 multiple types
p.Ile958= Multiple submitters cataract 6 multiple types
p.Leu191= Multiple submitters cataract 6 multiple types
p.Leu41Val Multiple submitters cataract 6 multiple types
p.Leu504= Multiple submitters cataract 6 multiple types
p.Leu661= Multiple submitters cataract 6 multiple types
p.Leu678= Multiple submitters cataract 6 multiple types
p.Leu821= Multiple submitters cataract 6 multiple types
p.Met631Thr Multiple submitters cataract 6 multiple types
p.Pro238= Multiple submitters cataract 6 multiple types
p.Pro329= Multiple submitters cataract 6 multiple types
p.Pro350Thr Multiple submitters cataract 6 multiple types
p.Ser169= Multiple submitters cataract 6 multiple types
p.Ser910= Multiple submitters cataract 6 multiple types
p.Thr647= Multiple submitters cataract 6 multiple types
p.Thr784= Multiple submitters cataract 6 multiple types
p.Thr838= Multiple submitters cataract 6 multiple types
p.Tyr469= Multiple submitters cataract 6 multiple types
c.1313-20C>T Single submitter cataract 6 multiple types
c.1429-4A>G Single submitter cataract 6 multiple types
c.154-271C>G Single submitter
c.154-5C>T Single submitter cataract 6 multiple types
c.1583-158C>A Single submitter
c.1682+217_1682+219del Single submitter
c.2475+127A>T Single submitter
c.2475+128dup Single submitter
c.2476-117C>T Single submitter
c.2476-224dup Single submitter
c.2476-5G>A Single submitter cataract 6 multiple types
c.2825+110T>C Single submitter
c.823+172C>T Single submitter
c.823+33del Single submitter
c.*213C>T Single submitter cataract 6 multiple types
c.*360G>A Single submitter cataract 6 multiple types
c.*510G>A Single submitter cataract 6 multiple types
c.*668G>T Single submitter cataract 6 multiple types
c.*714G>A Single submitter cataract 6 multiple types
c.*742T>A Single submitter cataract 6 multiple types
p.Arg428= Single submitter cataract 6 multiple types
p.Gly555= Single submitter cataract 6 multiple types
p.Thr493= Single submitter cataract 6 multiple types

Benign/Likely benign 15

p.Ala536= Multiple submitters cataract 6 multiple types
p.Arg315Gln Multiple submitters cataract 6 multiple types
p.Arg792= Multiple submitters cataract 6 multiple types
p.Glu438= Multiple submitters cataract 6 multiple types
p.His405= Multiple submitters cataract 6 multiple types
p.Leu163= Multiple submitters cataract 6 multiple types
p.Leu632= Multiple submitters cataract 6 multiple types
p.Leu700= Multiple submitters cataract 6 multiple types
p.Pro202= Multiple submitters cataract 6 multiple types
p.Ser277Leu Multiple submitters cataract 6 multiple types
p.Ser453= Multiple submitters cataract 6 multiple types
p.Thr151= Multiple submitters cataract 6 multiple types
p.Thr511Met Multiple submitters cataract 6 multiple types ⚠
p.Val165Met Multiple submitters cataract 6 multiple types
p.Val541Met Multiple submitters cataract 6 multiple types ⚠

Likely benign 80

c.153+128C>T Multiple submitters
c.153+86G>A Multiple submitters
c.1583-15G>C Multiple submitters cataract 6 multiple types
c.1739-111C>T Multiple submitters
c.2116-6C>T Multiple submitters cataract 6 multiple types
c.2116-9C>T Multiple submitters cataract 6 multiple types
p.Arg860His Multiple submitters cataract 6 multiple types
p.Arg894= Multiple submitters cataract 6 multiple types
p.Ile723= Multiple submitters cataract 6 multiple types
p.Leu746= Multiple submitters cataract 6 multiple types
p.Tyr130= Multiple submitters cataract 6 multiple types
c.1312+10del Single submitter cataract 6 multiple types
c.1312+208T>C Single submitter
c.1428+18G>A Single submitter cataract 6 multiple types
c.153+15G>A Single submitter cataract 6 multiple types
c.153+20G>A Single submitter cataract 6 multiple types
c.154-138G>A Single submitter
c.1582+195G>A Single submitter
c.1683-202C>T Single submitter
c.1738+10A>G Single submitter
c.2116-16G>A Single submitter cataract 6 multiple types
c.2326-4G>A Single submitter cataract 6 multiple types
c.2476-12G>C Single submitter cataract 6 multiple types
c.2476-286G>A Single submitter
c.2669+76C>T Single submitter
c.2670-71G>A Single submitter
c.2825+20G>A Single submitter cataract 6 multiple types
c.2825+248C>A Single submitter
c.2825+72C>T Single submitter
c.2826-135G>A Single submitter
c.2826-242C>T Single submitter
c.824-7C>T Single submitter cataract 6 multiple types
c.85+173G>C Single submitter
p.Ala146= Single submitter cataract 6 multiple types
p.Ala22= Single submitter
p.Ala227= Single submitter cataract 6 multiple types
p.Ala650= Single submitter cataract 6 multiple types
p.Arg357= Single submitter cataract 6 multiple types
p.Arg950= Single submitter
p.Asn823= Single submitter cataract 6 multiple types
p.Asn84= Single submitter cataract 6 multiple types
p.Asp500= Single submitter cataract 6 multiple types
p.Glu358Lys Single submitter cataract 6 multiple types
p.Glu572= Single submitter
p.Gly239= Single submitter cataract 6 multiple types
p.Gly489Val Single submitter cataract 6 multiple types
p.Gly665Ser Single submitter Inborn genetic diseases
p.Gly698= Single submitter
p.Gly89= Single submitter cataract 6 multiple types
p.His673= Single submitter cataract 6 multiple types
p.His824= Single submitter cataract 6 multiple types
p.Ile745= Single submitter cataract 6 multiple types
p.Leu648= Single submitter
p.Leu740= Single submitter cataract 6 multiple types
p.Lys578= Single submitter cataract 6 multiple types
p.Lys966= Single submitter cataract 6 multiple types
p.Met73Val Single submitter Inborn genetic diseases
p.Pro328= Single submitter
p.Pro404Ala Single submitter cataract 6 multiple types
p.Pro460= Single submitter cataract 6 multiple types
p.Pro47= Single submitter cataract 6 multiple types
p.Pro63= Single submitter Inborn genetic diseases
p.Pro786= Single submitter cataract 6 multiple types
p.Pro878= Single submitter cataract 6 multiple types
p.Ser354= Single submitter cataract 6 multiple types
p.Ser363= Single submitter cataract 6 multiple types
p.Ser400= Single submitter cataract 6 multiple types
p.Ser636= Single submitter cataract 6 multiple types
p.Thr349= Single submitter cataract 6 multiple types
p.Thr450= Single submitter
p.Thr511= Single submitter cataract 6 multiple types
p.Thr898= Single submitter cataract 6 multiple types
p.Tyr930= Single submitter cataract 6 multiple types
p.Val412Met Single submitter
p.Val550= Single submitter cataract 6 multiple types
p.Val891Met Single submitter cataract 6 multiple types
p.Arg137= No assertion criteria EPHA2-related disorder
p.Gln56= No assertion criteria EPHA2-related disorder
p.Trp819Gly No assertion criteria EPHA2-related disorder ⚠
p.Tyr588= No assertion criteria EPHA2-related disorder

Uncertain significance 237

p.Ala321Val Multiple submitters cataract 6 multiple types ⚠
p.Arg175His Multiple submitters cataract 6 multiple types ⚠
p.Arg195Cys Multiple submitters cataract 6 multiple types ⚠
p.Arg315Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg428His Multiple submitters cataract 6 multiple types ⚠
p.Arg560His Multiple submitters Inborn genetic diseases ⚠
p.Arg566His Multiple submitters Inborn genetic diseases ⚠
p.Arg615Trp Multiple submitters cataract 6 multiple types ⚠
p.Arg677Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg792Trp Multiple submitters cataract 6 multiple types ⚠
p.Asp148Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp53Asn Multiple submitters cataract 6 multiple types ⚠
p.Asp888Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp943Asn Multiple submitters cataract 6 multiple types
p.Cys309Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln581= Multiple submitters cataract 6 multiple types
p.Gln955Pro Multiple submitters cataract 6 multiple types ⚠
p.Glu308Asp Multiple submitters cataract 6 multiple types ⚠
p.Gly217Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly377Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly540Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro172Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser373Phe Multiple submitters cataract 6 multiple types ⚠
p.Thr336Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr526Met Multiple submitters cataract 6 multiple types ⚠
p.Thr605Ala Multiple submitters Inborn genetic diseases ⚠
p.Val170Met Multiple submitters cataract 6 multiple types ⚠
p.Val418Ile Multiple submitters Inborn genetic diseases ⚠
c.154-5C>A Single submitter EPHA2-related disorder
c.1582+6T>C Single submitter
c.2116-5G>A Single submitter
c.2826-35_2890del Single submitter cataract 6 multiple types
c.-81G>T Single submitter cataract 6 multiple types
c.*224G>T Single submitter cataract 6 multiple types
c.*273G>A Single submitter cataract 6 multiple types
c.*284C>T Single submitter cataract 6 multiple types
c.*543C>T Single submitter cataract 6 multiple types
c.*624C>T Single submitter cataract 6 multiple types
c.*625G>A Single submitter cataract 6 multiple types
c.*790C>T Single submitter cataract 6 multiple types
c.*845G>A Single submitter cataract 6 multiple types
p.Ala146Val Single submitter Inborn genetic diseases ⚠
p.Ala190Val Single submitter Inborn genetic diseases
p.Ala20Thr Single submitter Inborn genetic diseases ⚠
p.Ala216Thr Single submitter ⚠
p.Ala220Val Single submitter Inborn genetic diseases ⚠
p.Ala24_Gln25insAlaAla Single submitter
p.Ala275Thr Single submitter cataract 6 multiple types ⚠
p.Ala316Val Single submitter Inborn genetic diseases ⚠
p.Ala331Thr Single submitter cataract 6 multiple types ⚠
p.Ala36Val Single submitter ⚠
p.Ala37Thr Single submitter Inborn genetic diseases ⚠
p.Ala567= Single submitter cataract 6 multiple types
p.Ala725Gly Single submitter cataract 6 multiple types ⚠
p.Ala742Gly Single submitter Inborn genetic diseases ⚠
p.Arg137Cys Single submitter Inborn genetic diseases ⚠
p.Arg137His Single submitter cataract 6 multiple types ⚠
p.Arg175Leu Single submitter Inborn genetic diseases ⚠
p.Arg347His Single submitter cataract 6 multiple types ⚠
p.Arg357His Single submitter Inborn genetic diseases ⚠
p.Arg394Cys Single submitter cataract 6 multiple types ⚠
p.Arg394His Single submitter Inborn genetic diseases ⚠
p.Arg425Gly Single submitter Inborn genetic diseases ⚠
p.Arg425Leu Single submitter Inborn genetic diseases ⚠
p.Arg474Cys Single submitter Inborn genetic diseases ⚠
p.Arg474His Single submitter cataract 6 multiple types ⚠
p.Arg485Cys Single submitter ⚠
p.Arg485Ser Single submitter cataract 6 multiple types ⚠
p.Arg486Cys Single submitter cataract 6 multiple types ⚠
p.Arg486His Single submitter Inborn genetic diseases ⚠
p.Arg566Cys Single submitter cataract 6 multiple types ⚠
p.Arg657Pro Single submitter cataract 6 multiple types ⚠
p.Arg705Gln Single submitter Inborn genetic diseases ⚠
p.Arg705Gly Single submitter Inborn genetic diseases ⚠
p.Arg705Trp Single submitter ⚠
p.Arg721Trp Single submitter cataract 6 multiple types ⚠
p.Arg816Pro Single submitter Inborn genetic diseases ⚠
p.Arg82Cys Single submitter cataract 6 multiple types ⚠
p.Arg835Trp Single submitter ⚠
p.Arg890His Single submitter
p.Arg894fs Single submitter cataract 6 multiple types
p.Arg907Cys Single submitter Inborn genetic diseases ⚠
p.Arg950Pro Single submitter Inborn genetic diseases ⚠
p.Arg957His Single submitter Inborn genetic diseases ⚠
p.Arg957Leu Single submitter Inborn genetic diseases ⚠
p.Asn598Ser Single submitter Inborn genetic diseases ⚠
p.Asn674His Single submitter ⚠
p.Asn71Ile Single submitter Inborn genetic diseases ⚠
p.Asn79Tyr Single submitter Inborn genetic diseases ⚠
p.Asn831Asp Single submitter Inborn genetic diseases ⚠
p.Asp127His Single submitter Inborn genetic diseases ⚠
p.Asp250Asn Single submitter Inborn genetic diseases ⚠
p.Asp590Tyr Single submitter Inborn genetic diseases ⚠
p.Asp659Gly Single submitter Inborn genetic diseases ⚠
p.Asp799Asn Single submitter Inborn genetic diseases ⚠
p.Cys273Phe Single submitter ⚠
p.Gln599Lys Single submitter Inborn genetic diseases ⚠
p.Gln715His Single submitter cataract 6 multiple types ⚠
p.Glu157Lys Single submitter ⚠
p.Glu241Ala Single submitter Inborn genetic diseases ⚠
p.Glu242Lys Single submitter Inborn genetic diseases ⚠
p.Glu242Val Single submitter Inborn genetic diseases ⚠
p.Glu270Lys Single submitter Inborn genetic diseases ⚠
p.Glu308Lys Single submitter Inborn genetic diseases ⚠
p.Glu367Lys Single submitter Inborn genetic diseases ⚠
p.Glu375Lys Single submitter Inborn genetic diseases ⚠
p.Glu380Lys Single submitter Inborn genetic diseases ⚠
p.Glu445Val Single submitter Inborn genetic diseases ⚠
p.Glu488Lys Single submitter Inborn genetic diseases ⚠
p.Glu626Lys Single submitter ⚠
p.Glu679Gln Single submitter Inborn genetic diseases ⚠
p.Glu769Lys Single submitter Inborn genetic diseases ⚠
p.Glu911Lys Single submitter ⚠
p.Glu923Gln Single submitter Inborn genetic diseases ⚠
p.Glu934Lys Single submitter ⚠
p.Gly15Cys Single submitter Inborn genetic diseases ⚠
p.Gly228Ser Single submitter Inborn genetic diseases ⚠
p.Gly240Ala Single submitter Inborn genetic diseases ⚠
p.Gly265Asp Single submitter Inborn genetic diseases ⚠
p.Gly26Val Single submitter cataract 6 multiple types ⚠
p.Gly303Asp Single submitter Inborn genetic diseases
p.Gly312Val Single submitter Inborn genetic diseases ⚠
p.Gly355Arg Single submitter cataract 6 multiple types ⚠
p.Gly356Asp Single submitter cataract 6 multiple types ⚠
p.Gly39Arg Single submitter cataract 6 multiple types ⚠
p.Gly42Ser Single submitter cataract 6 multiple types
p.Gly514Cys Single submitter Inborn genetic diseases ⚠
p.Gly544Asp Single submitter Inborn genetic diseases ⚠
p.Gly651Val Single submitter Inborn genetic diseases ⚠
p.Gly709Asp Single submitter cataract 6 multiple types ⚠
p.Gly776= Single submitter cataract 6 multiple types
p.Gly777Ser Single submitter cataract 6 multiple types ⚠
p.Gly900Ser Single submitter cataract 6 multiple types ⚠
p.Gly903Val Single submitter cataract 6 multiple types
p.His233Tyr Single submitter cataract 6 multiple types ⚠
p.His333Arg Single submitter Inborn genetic diseases ⚠
p.His522Arg Single submitter Inborn genetic diseases ⚠
p.His559Tyr Single submitter Inborn genetic diseases ⚠
p.His609Arg Single submitter Inborn genetic diseases ⚠
p.His609Tyr Single submitter Inborn genetic diseases ⚠
p.Ile215Val Single submitter Inborn genetic diseases ⚠
p.Ile675Val Single submitter ⚠
p.Ile867Val Single submitter Inborn genetic diseases ⚠
p.Ile933Met Single submitter Inborn genetic diseases ⚠
p.Ile958Val Single submitter cataract 6 multiple types
p.Ile976Phe Single submitter Inborn genetic diseases ⚠
p.Ile976Thr Single submitter Inborn genetic diseases
p.Leu173Phe Single submitter Inborn genetic diseases ⚠
p.Leu3Phe Single submitter Inborn genetic diseases ⚠
p.Leu41Pro Single submitter Inborn genetic diseases ⚠
p.Leu504Gln Single submitter Inborn genetic diseases ⚠
p.Leu602Ser Single submitter Inborn genetic diseases ⚠
p.Leu678Pro Single submitter ⚠
p.Leu849Phe Single submitter Inborn genetic diseases ⚠
p.Leu965Phe Single submitter Inborn genetic diseases
p.Lys141Asn Single submitter ⚠
p.Lys200Asn Single submitter cataract 6 multiple types ⚠
p.Lys282Glu Single submitter cataract 6 multiple types ⚠
p.Lys617Thr Single submitter Inborn genetic diseases
p.Lys629Arg Single submitter cataract 6 multiple types ⚠
p.Lys638Arg Single submitter cataract 6 multiple types ⚠
p.Met340Val Single submitter Inborn genetic diseases ⚠
p.Met406Thr Single submitter cataract 6 multiple types ⚠
p.Met406Val Single submitter ⚠
p.Met66Thr Single submitter Inborn genetic diseases ⚠
p.Met733Val Single submitter Inborn genetic diseases ⚠
p.Phe524= Single submitter cataract 6 multiple types
p.Phe660Ile Single submitter Inborn genetic diseases ⚠
p.Pro147= Single submitter cataract 6 multiple types
p.Pro238Ala Single submitter Inborn genetic diseases ⚠
p.Pro238Leu Single submitter Inborn genetic diseases ⚠
p.Pro289Leu Single submitter Inborn genetic diseases ⚠
p.Pro328Ser Single submitter Inborn genetic diseases ⚠
p.Pro329Ser Single submitter cataract 6 multiple types ⚠
p.Pro371His Single submitter Inborn genetic diseases ⚠
p.Pro389Leu Single submitter Inborn genetic diseases ⚠
p.Pro389Ser Single submitter Inborn genetic diseases ⚠
p.Pro440Leu Single submitter Inborn genetic diseases ⚠
p.Pro460Leu Single submitter Inborn genetic diseases ⚠
p.Pro529Leu Single submitter cataract 6 multiple types ⚠
p.Pro63Leu Single submitter Inborn genetic diseases ⚠
p.Pro63Thr Single submitter ⚠
p.Pro862Leu Single submitter Inborn genetic diseases ⚠
p.Ser153Asn Single submitter Inborn genetic diseases ⚠
p.Ser154Asn Single submitter Inborn genetic diseases ⚠
p.Ser322Leu Single submitter Inborn genetic diseases ⚠
p.Ser373Cys Single submitter Inborn genetic diseases ⚠
p.Ser433Gly Single submitter Inborn genetic diseases ⚠
p.Ser453Ile Single submitter Inborn genetic diseases ⚠
p.Ser455Phe Single submitter cataract 6 multiple types ⚠
p.Ser457Gly Single submitter cataract 6 multiple types ⚠
p.Ser528Cys Single submitter cataract 6 multiple types ⚠
p.Ser635Phe Single submitter Inborn genetic diseases ⚠
p.Ser636Leu Single submitter ⚠
p.Ser761Thr Single submitter Inborn genetic diseases ⚠
p.Ser790Ala Single submitter Inborn genetic diseases ⚠
p.Ser899= Single submitter cataract 6 multiple types
p.Ser901Leu Single submitter Inborn genetic diseases ⚠
p.Ser915Pro Single submitter cataract 6 multiple types ⚠
p.Thr101= Single submitter cataract 6 multiple types
p.Thr101Ile Single submitter Inborn genetic diseases ⚠
p.Thr132Ala Single submitter Inborn genetic diseases ⚠
p.Thr132Ile Single submitter Inborn genetic diseases ⚠
p.Thr297Met Single submitter cataract 6 multiple types ⚠
p.Thr326Ala Single submitter Inborn genetic diseases ⚠
p.Thr349Ala Single submitter Inborn genetic diseases ⚠
p.Thr812Ser Single submitter Inborn genetic diseases ⚠
p.Thr838Ala Single submitter Inborn genetic diseases ⚠
p.Thr838Lys Single submitter Inborn genetic diseases ⚠
p.Thr883Ser Single submitter Inborn genetic diseases ⚠
p.Thr908Met Single submitter cataract 6 multiple types ⚠
p.Thr922Met Single submitter Inborn genetic diseases ⚠
p.Trp14Gly Single submitter Inborn genetic diseases ⚠
p.Trp348Cys Single submitter Inborn genetic diseases ⚠
p.Trp467Arg Single submitter Inborn genetic diseases ⚠
p.Trp912Cys Single submitter cataract 6 multiple types ⚠
p.Tyr469His Single submitter cataract 6 multiple types ⚠
p.Tyr67Cys Single submitter cataract 6 multiple types ⚠
p.Val235Met Single submitter Inborn genetic diseases ⚠
p.Val364Ile Single submitter Inborn genetic diseases ⚠
p.Val466Leu Single submitter Inborn genetic diseases ⚠
p.Val574Phe Single submitter Inborn genetic diseases ⚠
p.Val589Met Single submitter Inborn genetic diseases ⚠
p.Val601Leu Single submitter cataract 6 multiple types ⚠
p.Val627Gly Single submitter Inborn genetic diseases ⚠
p.Val641Ala Single submitter Inborn genetic diseases ⚠
p.Val69Met Single submitter cataract 6 multiple types ⚠
p.Val717Met Single submitter ⚠
p.Val826Leu Single submitter cataract 6 multiple types ⚠
p.Val86Ala Single submitter Inborn genetic diseases ⚠
p.Val949Met Single submitter ⚠
p.Arg615Gln No assertion criteria EPHA2-related disorder ⚠
p.Cys307= No assertion criteria EPHA2-related disorder
p.Gln508Glu No assertion criteria EPHA2-related disorder ⚠
p.Gly186Ser No assertion criteria Meniere disease ⚠
p.Phe660Val No assertion criteria Developmental cataract ⚠
p.Val909Met No assertion criteria EPHA2-related disorder ⚠