MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Cataract (D002386)
..Starting node ..CATARACT 6, MULTIPLE TYPES (OMIM:116600)
Child Nodes:
Sister Nodes:
..3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA (OMIM:616271)
..Absent corpus callosum cataract immunodeficiency (C535566)
..Adams Nance syndrome (C538224)
..Adult i Blood Group with Congenital Cataract (C566214)
..Alpha-B Crystallinopathy (C563848)
..Alpha-B Crystallinopathy with Cataract (C563849)
..Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract (C566280)
..Anterior polar cataract 2 (C537774)
..Arachnodactyly ataxia cataract aminoaciduria mental retardation (C537424)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal recessive nonsyndromic congenital nuclear cataract (C537298)
..Bassoe syndrome (C537661)
..Bhaskar Jagannathan syndrome (C535437)
..CAHMR syndrome (C537959)
..CAMFAK syndrome (C537965)
..Capsule Opacification (D058442)
..CATARACT 13 WITH ADULT i PHENOTYPE (OMIM:116700)
..CATARACT 15, MULTIPLE TYPES (OMIM:615274)
..CATARACT 16, MULTIPLE TYPES (OMIM:613763)
..CATARACT 19, MULTIPLE TYPES (OMIM:615277)
..CATARACT 20, MULTIPLE TYPES (OMIM:116100)
..CATARACT 23, MULTIPLE TYPES (OMIM:610425)
..CATARACT 3, MULTIPLE TYPES (OMIM:601547)
..CATARACT 32, MULTIPLE TYPES (OMIM:115650)
..CATARACT 36 (OMIM:613887)
..CATARACT 38 (OMIM:614691)
..CATARACT 39, MULTIPLE TYPES (OMIM:615188)
..CATARACT 4, MULTIPLE TYPES (OMIM:115700)
..CATARACT 41 (OMIM:116400)
..CATARACT 42 (OMIM:115900)
..CATARACT 43 (OMIM:616279)
..CATARACT 44 (OMIM:616509)
..CATARACT 45 (OMIM:616851)
..CATARACT 46, JUVENILE-ONSET (OMIM:212500)
..CATARACT 6, MULTIPLE TYPES (OMIM:116600)
..Cataract and cardiomyopathy (C538280) L: 00403;
..Cataract and congenital ichthyosis (C538281)
..Cataract anterior polar dominant (C538282)
..Cataract ataxia deafness (C538283)
..Cataract congenital dominant non nuclear (C538284)
..Cataract congenital Volkmann type (C538285)
..Cataract Hutterite type (C538286)
..Cataract microcornea syndrome (C538287)
..Cataract, Age-Related Cortical, 1 (C563812)
..Cataract, Age-Related Nuclear (C563333)
..Cataract, alopecia, sclerodactyly (C535336)
..Cataract, Autosomal Dominant (C565815)
..Cataract, Autosomal Dominant Nuclear (C565137)
..Cataract, Autosomal Dominant, Multiple Types 1 (C566909)
..Cataract, Autosomal Recessive Congenital 1 (C565136)
..Cataract, autosomal recessive congenital 2 (C535337)
..Cataract, Autosomal Recessive Congenital 3 (C567835)
..Cataract, Autosomal Recessive, Early-Onset, Pulverulent (C565298)
..Cataract, Central Saccular, With Sutural Opacities (C565301)
..Cataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
..Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
..Cataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
..Cataract, Congenital Zonular, with Sutural Opacities (C563435)
..Cataract, Congenital, Cerulean Type, 2 (C563294)
..Cataract, Congenital, Cerulean Type, 3 (C563819)
..Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy (C564353)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Cataract, Coppock-Like (C565133)
..Cataract, Cortical Pulverulent, Late-Onset (C563604)
..Cataract, Cortical, Juvenile-Onset (C566955)
..Cataract, Crystalline Aculeiform (C566162)
..Cataract, Crystalline Coralliform (C566161)
..Cataract, Floriform (C566160)
..Cataract, Juvenile, With Microcornea And Glucosuria (C567434)
..Cataract, Lamellar 2 (C566481)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Cataract, Nuclear Diffuse Nonprogressive (C566157)
..Cataract, Nuclear Progressive (C564596)
..Cataract, Nuclear Total (C566156)
..Cataract, Polymorphic and Lamellar (C563603)
..Cataract, posterior polar, 1 (C535339)
..Cataract, Posterior Polar, 2 (C565134)
..Cataract, posterior polar, 3 (C535343)
..Cataract, posterior polar, 4 (C535344)
..Cataract, posterior polar, 5 (C535340)
..Cataract, Progressive Polymorphic Cortical (C565130)
..Cataract, Pulverulent (C563426)
..Cataract, Pulverulent, Juvenile-Onset (C565703)
..Cataract, Punctate, Progressive Juvenile-Onset (C565131)
..Cataract, Sutural, with Punctate and Cerulean Opacities (C564619)
..Cataract, Variable Zonular Pulverulent (C565132)
..Cataract, zonular (C535342)
..Cataract, Zonular Central Nuclear (C565135)
..Cataract, Zonular Pulverulent 1 (C566158)
..Cataract, Zonular Pulverulent 3 (C566608)
..Cataracts, ataxia, short stature, and mental retardation (C535345)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Cerulean cataract (C537955)
..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..Cornea guttata with anterior polar cataract (C535471)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Crome syndrome (C536216)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Dementia, familial Danish (C538209)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..EDICT SYNDROME (OMIM:614303)
..Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Fine-Lubinsky syndrome (C537933)
..Flynn Aird syndrome (C537066)
..Goldstein Hutt syndrome (C537282)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..Hydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
..Hyperferritinemia, hereditary, with congenital cataracts (C538137)
..Hypertrophic Neuropathy And Cataract (C565490)
..Kahrizi Syndrome (C567196)
..Karandikar Maria Kamble syndrome (C537009)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..Krasnow Qazi syndrome (C537616)
..Leg, Absence Deformity of, with Congenital Cataract (C565442)
..Leukodystrophy, Hypomyelinating, 5 (C567166)
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Lubinsky syndrome (C543092)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Marshall syndrome (C536025)
..Martsolf syndrome (C536028)
..Microcephalic primordial dwarfism Toriello type (C537321)
..MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..Microphthalmia, Cataracts, and Iris Abnormalities (C566448)
..Microphthalmia, Isolated, with Cataract 1 (C563582)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Microphthalmia, Isolated, with Cataract 3 (C564452)
..Microphthalmia, Isolated, with Cataract 4 (C566480)
..Microphthalmia, syndromic 2 (C537465)
..Mousa Al din Al Nassar syndrome (C536989)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769) L: 00045;
..MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
..Nance-Horan syndrome (C538336)
..Nathalie syndrome (C538342)
..NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
..O'Donnell Pappas syndrome (C537858)
..Optic atrophy and cataract, autosomal dominant (C537128)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME (OMIM:606721)
..Pavone Fiumara Rizzo syndrome (C536313)
..Peters anomaly with cataract (C537885)
..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Premature aging, Okamoto type (C535270)
..RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
..RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
..Schaap Taylor Baraitser syndrome (C536626)
..Seemanova Lesny syndrome (C537536)
..Seow Najjar syndrome (C537584)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Slavotinek Pike Mills Hurst syndrome (C536672)
..Spastic paraplegia 9, autosomal dominant (C536868)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Warburg Sjo Fledelius syndrome (C536681)
..Wellesley Carmen French syndrome (C536691)
..Zonular cataract and nystagmus (C536727)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1965

Name:

CATARACT 6, MULTIPLE TYPES

Definition:

Alternative IDs:

DO:DOID:0110229

ParentIDs:

MESH:D002386

TreeNumbers:

C11.510.245/116600

Synonyms:

ARCC2 |CATARACT, AGE-RELATED CORTICAL, 2 |CATARACT, POSTERIOR POLAR, 1 |CTPP1 |CTRCT6

Slim Mappings:

Eye disease

Reference:

MedGen: 116600
MeSH: 116600
OMIM: 116600;
MSeqDR :
Genes: EPHA2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001139	Choroideremia
3	HP:0000519	Congenital cataract
4	HP:0000545	Myopia
5	HP:0001115	Posterior polar cataract	HP:0040284
6	HP:0010700	Total cataract

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_004431.5(EPHA2):c.*845G>A	1969	EPHA2	Uncertain significance	181703453	RCV001098011;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16450865	16450865	1:g.16450865C>T	-
NM_004431.5(EPHA2):c.*790C>T	1969	EPHA2	Uncertain significance	371642899	RCV000298958;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16450920	16450920	1:g.16450920G>A	ClinGen:CA10608558	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*742T>A	1969	EPHA2	Benign	111512184	RCV000356001;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16450968	16450968	1:g.16450968A>T	ClinGen:CA10607998	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*714G>A	1969	EPHA2	Benign	78569898	RCV000396328;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16450996	16450996	1:g.16450996C>T	ClinGen:CA10608153	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*668G>T	1969	EPHA2	Benign	146367469	RCV000302406;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451042	16451042	1:g.16451042C>A	ClinGen:CA10608525	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*659T>A	1969	EPHA2	Benign	139754494	RCV000359435;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451051	16451051	1:g.16451051A>T	ClinGen:CA10608155	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*625G>A	1969	EPHA2	Uncertain significance	886045502	RCV000266908;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451085	16451085	1:g.16451085C>T	ClinGen:CA10608559	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*624C>T	1969	EPHA2	Uncertain significance	886045503	RCV000324403;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451086	16451086	1:g.16451086G>A	ClinGen:CA10608560	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*543C>T	1969	EPHA2	Uncertain significance	2024433310	RCV001099793;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451167	16451167	1:g.16451167G>A	-
NM_004431.5(EPHA2):c.*510G>A	1969	EPHA2	Benign	144559615	RCV000362756;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451200	16451200	1:g.16451200C>T	ClinGen:CA10608526	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*443T>C	1969	EPHA2	Benign	113810531	RCV000270600;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451267	16451267	1:g.16451267A>G	ClinGen:CA10608156	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*360G>A	1969	EPHA2	Benign	41269181	RCV000328808;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451350	16451350	1:g.16451350C>T	ClinGen:CA10608004	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*355A>G	1969	EPHA2	Benign	140956748	RCV000385642;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451355	16451355	NC_000001.10:g.16451355T>C	ClinGen:CA10608157	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*297G>A	1969	EPHA2	Benign	1803527	RCV000293607\|RCV001668640;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16451413	16451413	NC_000001.10:g.16451413C>T	ClinGen:CA10608561	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*284C>T	1969	EPHA2	Uncertain significance	537231128	RCV000332257;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451426	16451426	NC_000001.10:g.16451426G>A	ClinGen:CA10608159	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*273G>A	1969	EPHA2	Uncertain significance	1208362952	RCV001101781;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451437	16451437	1:g.16451437C>T	-
NM_004431.5(EPHA2):c.*224G>T	1969	EPHA2	Uncertain significance	886045504	RCV000389311;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451486	16451486	NC_000001.10:g.16451486C>A	ClinGen:CA10608006	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*213C>T	1969	EPHA2	Benign	112600002	RCV000278468;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451497	16451497	NC_000001.10:g.16451497G>A	ClinGen:CA10608160	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.*166G>A	1969	EPHA2	Benign	11543935	RCV000335984\|RCV001707621;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16451544	16451544	NC_000001.10:g.16451544C>T	ClinGen:CA10608563	C2880562 Age-related cortical cataract;
NC_000001.10:g.(?_16451710)_(16532835_?)del	1969	EPHA2	Pathogenic	-1	RCV003113480;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451710	16532835		-
NM_004431.5(EPHA2):c.2919G>A (p.Gly973=)	1969	EPHA2	Benign	114895977	RCV000865100;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451722	16451722	NC_000001.10:g.16451722C>T	ClinGen:CA624667	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs)	1969	EPHA2	Pathogenic	2024441691	RCV001053980;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451725	16451726	1:g.16451725_16451726del	OMIM:176946.0003
NM_004431.5(EPHA2):c.2904G>C (p.Gln968His)	1969	EPHA2	Conflicting interpretations of pathogenicity	138818894	RCV000504072\|RCV000547983\|RCV001590912;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16451737	16451737	NC_000001.10:g.16451737C>G	ClinGen:CA624668	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2898G>A (p.Lys966=)	1969	EPHA2	Likely benign	142825252	RCV000338979;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451743	16451743	NC_000001.10:g.16451743C>T	ClinGen:CA624669	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2826-35_2890del	1969	EPHA2	Uncertain significance	-1	RCV002922118;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451751	16451850	NC_000001.10:g.16451752_16451851del	-
NM_004431.5(EPHA2):c.2875G>A (p.Ala959Thr)	1969	EPHA2	Conflicting interpretations of pathogenicity	139787163	RCV000405208\|RCV003417932\|RCV003409438;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|\|MedGen:C3661900	1	16451766	16451766	NC_000001.10:g.16451766C>T	ClinGen:CA624672	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2874C>T (p.Ile958=)	1969	EPHA2	Benign	3754334	RCV000244865\|RCV000304354\|RCV000836751;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16451767	16451767	NC_000001.10:g.16451767G>A	ClinGen:CA624673	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2872A>G (p.Ile958Val)	1969	EPHA2	Uncertain significance	-1	RCV003147098;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451769	16451769	NC_000001.10:g.16451769T>C	-
NM_004431.5(EPHA2):c.2842G>T (p.Gly948Trp)	1969	EPHA2	Pathogenic	137853199	RCV000014168;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451799	16451799	1:g.16451799C>A	ClinGen:CA122980,UniProtKB:P29317#VAR_058908,OMIM:176946.0001	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.2826C>T (p.Asp942=)	1969	EPHA2	Conflicting interpretations of pathogenicity	143828420	RCV001967962\|RCV003355683;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MeSH:D030342,MedGen:C0950123	1	16451815	16451815	16451815	-
NM_004431.5(EPHA2):c.2826-9G>A	1969	EPHA2	Pathogenic	886041412	RCV000399746\|RCV000644433;	N	MedGen:CN517202\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16451824	16451824	NC_000001.10:g.16451824C>T	ClinGen:CA10602740,OMIM:176946.0004
NM_004431.5(EPHA2):c.2815_2825+9del	1969	EPHA2	Pathogenic	2124192639	RCV001591931;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16455920	16455939	16455919	-
NM_004431.5(EPHA2):c.2825+2del	1969	EPHA2	Pathogenic	-1	RCV002281543;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16455927	16455927	16455926	-
NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile)	1969	EPHA2	Pathogenic	137853200	RCV000014169;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16455935	16455935	1:g.16455935G>A	ClinGen:CA122981,UniProtKB:P29317#VAR_058907,OMIM:176946.0002	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.2743T>C (p.Ser915Pro)	1969	EPHA2	Uncertain significance	775490586	RCV001952905;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456011	16456011	16456011	-
NM_004431.5(EPHA2):c.2736G>T (p.Trp912Cys)	1969	EPHA2	Uncertain significance	903033191	RCV000802686;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456018	16456018	1:g.16456018C>A	-
NM_004431.5(EPHA2):c.2730C>T (p.Ser910=)	1969	EPHA2	Benign	140726562	RCV001096361;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456024	16456024	1:g.16456024G>A	-
NM_004431.5(EPHA2):c.2697C>T (p.Ser899=)	1969	EPHA2	Uncertain significance	749180343	RCV001096362;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456057	16456057	1:g.16456057G>A	-
NM_004431.5(EPHA2):c.2682G>A (p.Arg894=)	1969	EPHA2	Likely benign	747921529	RCV002111891;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456072	16456072	16456072	-
NM_004431.5(EPHA2):c.2677_2680dup (p.Arg894fs)	1969	EPHA2	Uncertain significance	-1	RCV002289309;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456073	16456074	16456073	-
NM_004431.5(EPHA2):c.2671G>A (p.Val891Met)	1969	EPHA2	Likely benign	139168333	RCV001096363;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456083	16456083	1:g.16456083C>T	-
NM_004431.5(EPHA2):c.2627G>A (p.Arg876His)	1969	EPHA2	Benign	35903225	RCV000254530\|RCV000535393\|RCV001636780;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16456763	16456763	NC_000001.10:g.16456763C>T	ClinGen:CA624775,UniProtKB:P29317#VAR_042125	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2579G>A (p.Arg860His)	1969	EPHA2	Likely benign	139225059	RCV001481295;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456811	16456811	16456811	-
NM_004431.5(EPHA2):c.2514A>G (p.Thr838=)	1969	EPHA2	Benign	35586310	RCV000828288\|RCV001089337;	N	MedGen:C3661900\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456876	16456876	NC_000001.10:g.16456876T>C	ClinGen:CA624788	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2476-5G>A	1969	EPHA2	Benign	374463695	RCV001096364;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16456919	16456919	1:g.16456919C>T	-
NM_004431.5(EPHA2):c.2472C>T (p.His824=)	1969	EPHA2	Likely benign	145425916	RCV002206020;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458219	16458219	16458219	-
NM_004431.5(EPHA2):c.2463G>A (p.Leu821=)	1969	EPHA2	Benign	143247718	RCV000307736;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458228	16458228	NC_000001.10:g.16458228C>T	ClinGen:CA624824	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2426_2427dup (p.Val810fs)	1969	EPHA2	Pathogenic	-1	RCV003081426;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458263	16458264	NC_000001.10:g.16458265_16458266dup	-
NM_004431.5(EPHA2):c.2397C>T (p.Asp799=)	1969	EPHA2	Uncertain significance	199875761	RCV001098107;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458294	16458294	1:g.16458294G>A	-
NM_004431.5(EPHA2):c.2374C>A (p.Arg792=)	1969	EPHA2	Benign/Likely benign	55869078	RCV000551757;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458317	16458317	NC_000001.10:g.16458317G>T	ClinGen:CA624840	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2374C>T (p.Arg792Trp)	1969	EPHA2	Uncertain significance	55869078	RCV001971571;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458317	16458317	16458317	-
NM_004431.5(EPHA2):c.2353G>A (p.Ala785Thr)	1969	EPHA2	Likely pathogenic	766078852	RCV002250911;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458338	16458338	16458338	-
NM_004431.5(EPHA2):c.2352C>T (p.Thr784=)	1969	EPHA2	Benign	112285834	RCV000249522\|RCV000272978\|RCV001651184;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16458339	16458339	NC_000001.10:g.16458339G>A	ClinGen:CA624847	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2329G>A (p.Gly777Ser)	1969	EPHA2	Uncertain significance	922655349	RCV002004683;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458362	16458362	16458362	-
NM_004431.5(EPHA2):c.2328C>A (p.Gly776=)	1969	EPHA2	Uncertain significance	757876769	RCV001098108;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458363	16458363	1:g.16458363G>T	-
NM_004431.5(EPHA2):c.2326-4G>A	1969	EPHA2	Likely benign	781762535	RCV001417635;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458369	16458369	16458369	-
NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile)	1969	EPHA2	Conflicting interpretations of pathogenicity	145592908	RCV000522512\|RCV001078988;	N	MedGen:C3661900\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458645	16458645	NC_000001.10:g.16458645C>T	ClinGen:CA624886
NM_004431.5(EPHA2):c.2235C>T (p.Ile745=)	1969	EPHA2	Likely benign	2124200644	RCV001463378;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458649	16458649	16458649	-
NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly)	1969	EPHA2	Uncertain significance	2024583180	RCV001340743;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458710	16458710	16458710	-
NM_004431.5(EPHA2):c.2169C>T (p.Ile723=)	1969	EPHA2	Likely benign	372191320	RCV000885569;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458715	16458715	1:g.16458715G>A	-
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)	1969	EPHA2	Conflicting interpretations of pathogenicity	116506614	RCV000014172\|RCV000368763\|RCV000442224\|RCV002247334;	N	MedGen:C4016349\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MONDO:MONDO:0001749,MedGen:C0154980\|MedGen:CN169374	1	16458722	16458722	1:g.16458722C>T	ClinGen:CA122982,UniProtKB:P29317#VAR_062532,OMIM:176946.0005	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2116-6C>T	1969	EPHA2	Likely benign	765586631	RCV000276554;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458774	16458774	NC_000001.10:g.16458774G>A	ClinGen:CA624911	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2116-9C>T	1969	EPHA2	Likely benign	753038083	RCV000534601;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458777	16458777	1:g.16458777G>A	ClinGen:CA624912	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.2100G>A (p.Leu700=)	1969	EPHA2	Benign	141594918	RCV001517677;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458888	16458888	1:g.16458888C>T	-
NM_004431.5(EPHA2):c.2097C>T (p.Ala699=)	1969	EPHA2	Benign	149080726	RCV000333691;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16458891	16458891	NC_000001.10:g.16458891G>A	ClinGen:CA624942	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2034A>G (p.Leu678=)	1969	EPHA2	Benign	2230598	RCV000558416\|RCV000828287;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16459694	16459694	NC_000001.10:g.16459694T>C	ClinGen:CA624975	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.2030G>A (p.Arg677His)	1969	EPHA2	Benign	145962326	RCV001099892;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16459698	16459698	1:g.16459698C>T	-
NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys)	1969	EPHA2	Uncertain significance	765261745	RCV000815249\|RCV003258990;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MeSH:D030342,MedGen:C0950123	1	16459699	16459699	1:g.16459699G>A	-
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser)	1969	EPHA2	Conflicting interpretations of pathogenicity	144342633	RCV000279994;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16459744	16459744	NC_000001.10:g.16459744C>T	ClinGen:CA624984	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1983C>T (p.Leu661=)	1969	EPHA2	Benign	10907223	RCV000244595\|RCV000318674\|RCV000842030;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16459745	16459745	NC_000001.10:g.16459745G>A	ClinGen:CA624985	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1970G>C (p.Arg657Pro)	1969	EPHA2	Uncertain significance	-1	RCV003003384;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16459758	16459758	NC_000001.10:g.16459758C>G	-
NM_004431.5(EPHA2):c.1950C>T (p.Ala650=)	1969	EPHA2	Likely benign	370135733	RCV002205256;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16459778	16459778	16459778	-
NM_004431.5(EPHA2):c.1941G>T (p.Thr647=)	1969	EPHA2	Benign	56043737	RCV000546449\|RCV001660564;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16459787	16459787	NC_000001.10:g.16459787C>A	ClinGen:CA624990	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1896G>A (p.Leu632=)	1969	EPHA2	Benign/Likely benign	55655135	RCV000533829\|RCV001709576;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16459832	16459832	NC_000001.10:g.16459832C>T	ClinGen:CA625003	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1892T>C (p.Met631Thr)	1969	EPHA2	Benign	34021505	RCV000828286\|RCV001087997;	N	MedGen:C3661900\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16459836	16459836	NC_000001.10:g.16459836A>G	ClinGen:CA625004,UniProtKB:P29317#VAR_055990	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1886A>G (p.Lys629Arg)	1969	EPHA2	Uncertain significance	-1	RCV002470299;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16459842	16459842	NC_000001.10:g.16459842T>C	-
NM_004431.5(EPHA2):c.1864+12C>T	1969	EPHA2	Benign	183236745	RCV000344598;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16459964	16459964	1:g.16459964G>A	ClinGen:CA625025	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1843C>T (p.Arg615Trp)	1969	EPHA2	Uncertain significance	373953344	RCV000403532;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16459997	16459997	1:g.16459997G>A	ClinGen:CA10608023	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1814C>T (p.Thr605Ile)	1969	EPHA2	Likely benign	753345828	RCV001101893;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16460026	16460026	1:g.16460026G>A	-
NM_004431.5(EPHA2):c.1743A>G (p.Gln581=)	1969	EPHA2	Uncertain significance	-1	RCV002594199\|RCV003222436;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:CN517202	1	16460097	16460097		-
NM_004431.5(EPHA2):c.1738+16C>T	1969	EPHA2	Benign	6669624	RCV000254225\|RCV001711698\|RCV002058164;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16460339	16460339	1:g.16460339G>A	ClinGen:CA625074	CN169374 not specified;
NM_004431.5(EPHA2):c.1734G>A (p.Lys578=)	1969	EPHA2	Likely benign	1156858324	RCV002123106;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16460359	16460359	16460359	-
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile)	1969	EPHA2	Conflicting interpretations of pathogenicity	201325716	RCV000309694\|RCV001770232;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16460373	16460373	1:g.16460373C>T	ClinGen:CA625079	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1712C>T (p.Pro571Leu)	1969	EPHA2	Uncertain significance	376402047	RCV000348258;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16460381	16460381	1:g.16460381G>A	ClinGen:CA625081	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1701C>T (p.Ala567=)	1969	EPHA2	Uncertain significance	2024630377	RCV001101894;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16460392	16460392	1:g.16460392G>A	-
NM_004431.5(EPHA2):c.1697G>A (p.Arg566His)	1969	EPHA2	Uncertain significance	750878968	RCV001101895;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16460396	16460396	1:g.16460396C>T	-
NC_000001.10:g.(?_16460943)_(16482447_?)dup	1969	EPHA2	Uncertain significance	-1	RCV000797488;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16460943	16482447		-
NM_004431.5(EPHA2):c.1665C>T (p.Gly555=)	1969	EPHA2	Benign	55660973	RCV002066066;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16460980	16460980	1:g.16460980G>A	-
NM_004431.5(EPHA2):c.1621G>A (p.Val541Met)	1969	EPHA2	Benign/Likely benign	61731097	RCV000545114\|RCV001575119;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16461024	16461024	1:g.16461024C>T	ClinGen:CA625107	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1608G>A (p.Ala536=)	1969	EPHA2	Benign	777962415	RCV000299124;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461037	16461037	1:g.16461037C>T	ClinGen:CA625112	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1586C>T (p.Pro529Leu)	1969	EPHA2	Uncertain significance	548968171	RCV001096460;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461059	16461059	1:g.16461059G>A	-
NM_004431.5(EPHA2):c.1583C>G (p.Ser528Cys)	1969	EPHA2	Uncertain significance	1380993138	RCV001096461;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461062	16461062	1:g.16461062G>C	-
NM_004431.5(EPHA2):c.1583-15G>C	1969	EPHA2	Likely benign	376854026	RCV000353931;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461077	16461077	1:g.16461077C>G	ClinGen:CA625119	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1582+1G>A	1969	EPHA2	Likely pathogenic	1570403798	RCV000801686;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461530	16461530	1:g.16461530C>T	-
NM_004431.5(EPHA2):c.1572C>T (p.Phe524=)	1969	EPHA2	Uncertain significance	763210348	RCV001096462;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461541	16461541	1:g.16461541G>A	-
NM_004431.5(EPHA2):c.1533G>A (p.Thr511=)	1969	EPHA2	Likely benign	550085875	RCV000277862;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461580	16461580	1:g.16461580C>T	ClinGen:CA625150	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1532C>T (p.Thr511Met)	1969	EPHA2	Benign/Likely benign	55747232	RCV000644437\|RCV002225577;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16461581	16461581	NC_000001.10:g.16461581G>A	ClinGen:CA625151,UniProtKB:P29317#VAR_042122	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1512G>T (p.Leu504=)	1969	EPHA2	Benign	35676629	RCV000828285\|RCV001087996;	N	MedGen:C3661900\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461601	16461601	NC_000001.10:g.16461601C>A	ClinGen:CA625154	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1500C>T (p.Asp500=)	1969	EPHA2	Likely benign	746512965	RCV000644432;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461613	16461613	1:g.16461613G>A	ClinGen:CA625156	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.1486G>A (p.Asp496Asn)	1969	EPHA2	Benign	115171763	RCV000871108\|RCV002064663;	N	MedGen:C3661900\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461627	16461627	1:g.16461627C>T	-
NM_004431.5(EPHA2):c.1479C>T (p.Thr493=)	1969	EPHA2	Benign	774658304	RCV001509925;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461634	16461634	16461634	-
NM_004431.5(EPHA2):c.1466G>T (p.Gly489Val)	1969	EPHA2	Likely benign	140392218	RCV002111971;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461647	16461647	16461647	-
NM_004431.5(EPHA2):c.1453C>A (p.Arg485Ser)	1969	EPHA2	Uncertain significance	-1	RCV003007476;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461660	16461660	NC_000001.10:g.16461660G>T	-
NM_004431.5(EPHA2):c.1429-4A>G	1969	EPHA2	Benign	374403114	RCV001513875;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16461688	16461688	16461688	-
NM_004431.5(EPHA2):c.1428+16G>A	1969	EPHA2	Benign	-1	RCV002756070;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16462134	16462134	NC_000001.10:g.16462134C>T	-
NM_004431.5(EPHA2):c.1421G>A (p.Arg474His)	1969	EPHA2	Uncertain significance	988452109	RCV001098206;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16462157	16462157	1:g.16462157C>T	-
NM_004431.5(EPHA2):c.1407C>T (p.Tyr469=)	1969	EPHA2	Benign	201532782	RCV000644438\|RCV003411523;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16462171	16462171	1:g.16462171G>A	ClinGen:CA625207	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.1380G>A (p.Pro460=)	1969	EPHA2	Likely benign	767195093	RCV000274310;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16462198	16462198	NC_000001.10:g.16462198C>T	ClinGen:CA625213	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1364C>T (p.Ser455Phe)	1969	EPHA2	Uncertain significance	993473436	RCV001098207;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16462214	16462214	1:g.16462214G>A	-
NM_004431.5(EPHA2):c.1359C>T (p.Ser453=)	1969	EPHA2	Benign	55740291	RCV000329142;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16462219	16462219	NC_000001.10:g.16462219G>A	ClinGen:CA625220	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1314G>A (p.Glu438=)	1969	EPHA2	Benign/Likely benign	55700006	RCV000249228\|RCV000864295\|RCV003409375;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16462264	16462264	NC_000001.10:g.16462264C>T	ClinGen:CA625236	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1313-20C>T	1969	EPHA2	Benign	146418694	RCV002219797;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16462285	16462285	16462285	-
NM_004431.5(EPHA2):c.1312+10del	1969	EPHA2	Likely benign	751606166	RCV001397903;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464338	16464338	1:g.16464338_16464338del	ClinGen:CA625250	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.1283G>A (p.Arg428His)	1969	EPHA2	Uncertain significance	138475231	RCV001227746;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464377	16464377	1:g.16464377C>T	-
NM_004431.5(EPHA2):c.1252G>A (p.Val418Ile)	1969	EPHA2	Uncertain significance	568736295	RCV000270678;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464408	16464408	NC_000001.10:g.16464408C>T	ClinGen:CA625269	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1215C>T (p.His405=)	1969	EPHA2	Benign	142848257	RCV000325748;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464445	16464445	NC_000001.10:g.16464445G>A	ClinGen:CA625280	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1210C>G (p.Pro404Ala)	1969	EPHA2	Likely benign	1181387702	RCV000644434;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464450	16464450	1:g.16464450G>C	ClinGen:CA338632756	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg)	1969	EPHA2	Benign	34192549	RCV000244271\|RCV000531723\|RCV000426150\|RCV001711816;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782\|MedGen:C3661900	1	16464489	16464489	NC_000001.10:g.16464489C>T	ClinGen:CA625293,UniProtKB:P29317#VAR_042121	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1170C>T (p.His390=)	1969	EPHA2	Benign	113173342	RCV000556094;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464490	16464490	NC_000001.10:g.16464490G>A	ClinGen:CA625294	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1129G>A (p.Gly377Arg)	1969	EPHA2	Uncertain significance	-1	RCV003088881;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464531	16464531	NC_000001.10:g.16464531C>T	-
NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe)	1969	EPHA2	Uncertain significance	758978165	RCV000538935;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464542	16464542	1:g.16464542G>A	ClinGen:CA625309	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.1072G>A (p.Glu358Lys)	1969	EPHA2	Likely benign	201941686	RCV000644435;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464588	16464588	1:g.16464588C>T	ClinGen:CA625324	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.1071C>T (p.Arg357=)	1969	EPHA2	Likely benign	769561791	RCV001099979;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464589	16464589	1:g.16464589G>A	-
NM_004431.5(EPHA2):c.1067G>A (p.Gly356Asp)	1969	EPHA2	Uncertain significance	1248366791	RCV001223039;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464593	16464593	1:g.16464593C>T	-
NM_004431.5(EPHA2):c.1062C>T (p.Ser354=)	1969	EPHA2	Likely benign	781610786	RCV001892796;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464598	16464598	16464598	-
NM_004431.5(EPHA2):c.1048C>A (p.Pro350Thr)	1969	EPHA2	Benign	11543934	RCV000340843;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464612	16464612	NC_000001.10:g.16464612G>T	ClinGen:CA625332	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met)	1969	EPHA2	Conflicting interpretations of pathogenicity	200490325	RCV001099980\|RCV002249687;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:CN169374	1	16464614	16464614	1:g.16464614G>A	-
NM_004431.5(EPHA2):c.1040G>A (p.Arg347His)	1969	EPHA2	Uncertain significance	761928478	RCV000705461;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464620	16464620	1:g.16464620C>T	-	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.988dup (p.Ser330fs)	1969	EPHA2	Pathogenic	-1	RCV002948856;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464671	16464672	NC_000001.10:g.16464672dup	-
NM_004431.5(EPHA2):c.987C>T (p.Pro329=)	1969	EPHA2	Benign	2230597	RCV000247172\|RCV000281939\|RCV000836750;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16464673	16464673	NC_000001.10:g.16464673G>A	ClinGen:CA625352	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.962C>T (p.Ala321Val)	1969	EPHA2	Uncertain significance	372094298	RCV001101977;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464787	16464787	1:g.16464787G>A	-
NM_004431.5(EPHA2):c.944G>A (p.Arg315Gln)	1969	EPHA2	Benign/Likely benign	139176878	RCV000873178\|RCV003326398;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16464805	16464805	NC_000001.10:g.16464805C>T	ClinGen:CA625374	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.924G>C (p.Glu308Asp)	1969	EPHA2	Uncertain significance	759269511	RCV001914414;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464825	16464825	16464825	-
NM_004431.5(EPHA2):c.890C>T (p.Thr297Met)	1969	EPHA2	Uncertain significance	754323552	RCV001066684;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464859	16464859	1:g.16464859G>A	-
NM_004431.5(EPHA2):c.844A>G (p.Lys282Glu)	1969	EPHA2	Uncertain significance	747087417	RCV001970904;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464905	16464905	16464905	-
NM_004431.5(EPHA2):c.830C>T (p.Ser277Leu)	1969	EPHA2	Benign	35484156	RCV000405272\|RCV000871683;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16464919	16464919	NC_000001.10:g.16464919G>A	ClinGen:CA625400	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.824-7C>T	1969	EPHA2	Likely benign	1301165838	RCV000880187;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16464932	16464932	1:g.16464932G>A	-
NM_004431.5(EPHA2):c.824-11G>A	1969	EPHA2	Benign	2291804	RCV000250152\|RCV000297216\|RCV001668504;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16464936	16464936	1:g.16464936C>T	ClinGen:CA625402	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter)	1969	EPHA2	Pathogenic	1569602837	RCV000824104;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16474937	16474937	1:g.16474937C>T	-
NM_004431.5(EPHA2):c.717G>A (p.Gly239=)	1969	EPHA2	Likely benign	377158184	RCV001101978;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16474979	16474979	1:g.16474979C>T	-
NM_004431.5(EPHA2):c.714G>C (p.Pro238=)	1969	EPHA2	Benign	36037949	RCV000872034;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16474982	16474982	NC_000001.10:g.16474982C>G	ClinGen:CA625451	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.695A>G (p.Asp232Gly)	1969	EPHA2	Benign	114498261	RCV000871695;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475001	16475001	NC_000001.10:g.16475001T>C	ClinGen:CA625462	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.681C>T (p.Ala227=)	1969	EPHA2	Likely benign	770700471	RCV000553338;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475015	16475015	1:g.16475015G>A	ClinGen:CA625463	C1861825 116600 Cataract 6, multiple types;
NM_004431.5(EPHA2):c.648C>T (p.Ala216=)	1969	EPHA2	Benign	34753465	RCV000245191\|RCV000541285\|RCV001683044;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16475048	16475048	1:g.16475048G>A	ClinGen:CA625466	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.606C>T (p.Pro202=)	1969	EPHA2	Benign/Likely benign	201175373	RCV000528692;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475090	16475090	NC_000001.10:g.16475090G>A	ClinGen:CA625474	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.600G>C (p.Lys200Asn)	1969	EPHA2	Uncertain significance	200541087	RCV001096567;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475096	16475096	1:g.16475096C>G	-
NM_004431.5(EPHA2):c.583C>T (p.Arg195Cys)	1969	EPHA2	Uncertain significance	368758045	RCV000272752;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475113	16475113	NC_000001.10:g.16475113G>A	ClinGen:CA625480	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.573G>A (p.Leu191=)	1969	EPHA2	Benign	6678616	RCV000253199\|RCV000309096\|RCV000828015;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16475123	16475123	NC_000001.10:g.16475123C>T	ClinGen:CA625484	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.570G>A (p.Ala190=)	1969	EPHA2	Benign	6678618	RCV000249831\|RCV000363768\|RCV000828014;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16475126	16475126	NC_000001.10:g.16475126C>T	ClinGen:CA625485	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.524G>A (p.Arg175His)	1969	EPHA2	Uncertain significance	759687964	RCV001096568;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475172	16475172	1:g.16475172C>T	-
NM_004431.5(EPHA2):c.523C>T (p.Arg175Cys)	1969	EPHA2	Conflicting interpretations of pathogenicity	147352564	RCV000269151\|RCV002522067;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MeSH:D030342,MedGen:C0950123	1	16475173	16475173	NC_000001.10:g.16475173G>A	ClinGen:CA625495	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.508G>A (p.Val170Met)	1969	EPHA2	Uncertain significance	-1	RCV003147099;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475188	16475188	NC_000001.10:g.16475188C>T	-
NM_004431.5(EPHA2):c.507C>T (p.Ser169=)	1969	EPHA2	Benign	139064351	RCV000324171;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475189	16475189	NC_000001.10:g.16475189G>A	ClinGen:CA625504	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.493G>A (p.Val165Met)	1969	EPHA2	Benign/Likely benign	150790360	RCV000864302\|RCV001575976;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16475203	16475203	1:g.16475203C>T	-
NM_004431.5(EPHA2):c.489G>A (p.Leu163=)	1969	EPHA2	Benign/Likely benign	146626026	RCV001520768\|RCV001572345;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16475207	16475207	16475207	-
NM_004431.5(EPHA2):c.453C>T (p.Thr151=)	1969	EPHA2	Benign	139200871	RCV000378759;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475243	16475243	NC_000001.10:g.16475243G>A	ClinGen:CA625522	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.442G>A (p.Asp148Asn)	1969	EPHA2	Uncertain significance	754447639	RCV000519074\|RCV001858036;	N	MedGen:CN517202\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475254	16475254	NC_000001.10:g.16475254C>T	ClinGen:CA625523
NM_004431.5(EPHA2):c.441C>T (p.Pro147=)	1969	EPHA2	Uncertain significance	778278534	RCV001098303;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475255	16475255	1:g.16475255G>A	-
NM_004431.5(EPHA2):c.410G>A (p.Arg137His)	1969	EPHA2	Uncertain significance	-1	RCV002774946;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475286	16475286	NC_000001.10:g.16475286C>T	-
NM_004431.5(EPHA2):c.390C>T (p.Tyr130=)	1969	EPHA2	Likely benign	374988801	RCV002125753;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475306	16475306	16475306	-
NM_004431.5(EPHA2):c.303T>C (p.Thr101=)	1969	EPHA2	Uncertain significance	779193586	RCV001098304;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475393	16475393	1:g.16475393A>G	-
NM_004431.5(EPHA2):c.267A>G (p.Gly89=)	1969	EPHA2	Likely benign	-1	RCV002602273;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475429	16475429		-
NM_004431.5(EPHA2):c.262C>T (p.Arg88Ter)	1969	EPHA2	Uncertain significance	143590250	RCV000778193;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475434	16475434	NC_000001.10:g.16475434G>A	-
NM_004431.5(EPHA2):c.252C>T (p.Asn84=)	1969	EPHA2	Likely benign	-1	RCV002786698;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475444	16475444		-
NM_004431.5(EPHA2):c.205G>A (p.Val69Met)	1969	EPHA2	Uncertain significance	994302854	RCV000791152;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475491	16475491	1:g.16475491C>T	-
NM_004431.5(EPHA2):c.154-5C>T	1969	EPHA2	Benign	369642940	RCV000265568;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16475547	16475547	NC_000001.10:g.16475547G>A	ClinGen:CA625570	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.153+15G>A	1969	EPHA2	Likely benign	753000983	RCV002219152;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16477376	16477376	16477376	-
NM_004431.5(EPHA2):c.141G>A (p.Pro47=)	1969	EPHA2	Likely benign	370213656	RCV002133417;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16477403	16477403	16477403	-
NM_004431.5(EPHA2):c.124G>A (p.Gly42Ser)	1969	EPHA2	Uncertain significance	886045506	RCV000320641;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16477420	16477420	NC_000001.10:g.16477420C>T	ClinGen:CA10608211	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.121C>G (p.Leu41Val)	1969	EPHA2	Benign	147977279	RCV000544272\|RCV003326399;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492\|MedGen:C3661900	1	16477423	16477423	NC_000001.10:g.16477423G>C	ClinGen:CA625598	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.115G>A (p.Gly39Arg)	1969	EPHA2	Uncertain significance	1253625963	RCV001098305;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16477429	16477429	1:g.16477429C>T	-
NM_004431.5(EPHA2):c.86-9C>T	1969	EPHA2	Benign	138164293	RCV000242104\|RCV000524976;	N	MedGen:CN169374\|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16477467	16477467	NC_000001.10:g.16477467G>A	ClinGen:CA625606	C2880562 Age-related cortical cataract;
NM_004431.5(EPHA2):c.77G>T (p.Gly26Val)	1969	EPHA2	Uncertain significance	1557520529	RCV000785112;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16482351	16482351	1:g.16482351C>A	-
NM_004431.5(EPHA2):c.-81G>T	1969	EPHA2	Uncertain significance	748513356	RCV000316417;	N	MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600, Orphanet:91492	1	16482508	16482508	NC_000001.10:g.16482508C>A	ClinGen:CA10608570	C2880562 Age-related cortical cataract;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen