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:
expand
Agenesis of Corpus Callosum (D061085)
Parent Node:
expand
Cataract (D002386)
..Starting node
..expand
Absent corpus callosum cataract immunodeficiency (C535566)

       Child Nodes:



 Sister Nodes: 
..expand3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA (OMIM:616271)
..expandAbsent corpus callosum cataract immunodeficiency (C535566)
..expandAdams Nance syndrome (C538224)
..expandAdult i Blood Group with Congenital Cataract (C566214)
..expandAlpha-B Crystallinopathy (C563848)
..expandAlpha-B Crystallinopathy with Cataract (C563849)
..expandAniridia, Microcornea, And Spontaneously Reabsorbed Cataract (C566280)
..expandAnterior polar cataract 2 (C537774)
..expandArachnodactyly ataxia cataract aminoaciduria mental retardation (C537424)
..expandAtaxia-Microcephaly-Cataract Syndrome (C563086)
..expandAutosomal recessive nonsyndromic congenital nuclear cataract (C537298)
..expandBassoe syndrome (C537661)
..expandBhaskar Jagannathan syndrome (C535437)
..expandCAHMR syndrome (C537959)
..expandCAMFAK syndrome (C537965)
..expandCapsule Opacification (D058442)
..expandCATARACT 13 WITH ADULT i PHENOTYPE (OMIM:116700)
..expandCATARACT 15, MULTIPLE TYPES (OMIM:615274)
..expandCATARACT 16, MULTIPLE TYPES (OMIM:613763)
..expandCATARACT 19, MULTIPLE TYPES (OMIM:615277)
..expandCATARACT 20, MULTIPLE TYPES (OMIM:116100)
..expandCATARACT 23, MULTIPLE TYPES (OMIM:610425)
..expandCATARACT 3, MULTIPLE TYPES (OMIM:601547)
..expandCATARACT 32, MULTIPLE TYPES (OMIM:115650)
..expandCATARACT 36 (OMIM:613887)
..expandCATARACT 38 (OMIM:614691)
..expandCATARACT 39, MULTIPLE TYPES (OMIM:615188)
..expandCATARACT 4, MULTIPLE TYPES (OMIM:115700)
..expandCATARACT 41 (OMIM:116400)
..expandCATARACT 42 (OMIM:115900)
..expandCATARACT 43 (OMIM:616279)
..expandCATARACT 44 (OMIM:616509)
..expandCATARACT 45 (OMIM:616851)
..expandCATARACT 46, JUVENILE-ONSET (OMIM:212500)
..expandCATARACT 6, MULTIPLE TYPES (OMIM:116600)
..expandCataract and cardiomyopathy (C538280)  LSDB  L: 00403;
..expandCataract and congenital ichthyosis (C538281)
..expandCataract anterior polar dominant (C538282)
..expandCataract ataxia deafness (C538283)
..expandCataract congenital dominant non nuclear (C538284)
..expandCataract congenital Volkmann type (C538285)
..expandCataract Hutterite type (C538286)
..expandCataract microcornea syndrome (C538287)
..expandCataract, Age-Related Cortical, 1 (C563812)
..expandCataract, Age-Related Nuclear (C563333)
..expandCataract, alopecia, sclerodactyly (C535336)
..expandCataract, Autosomal Dominant (C565815)
..expandCataract, Autosomal Dominant Nuclear (C565137)
..expandCataract, Autosomal Dominant, Multiple Types 1 (C566909)
..expandCataract, Autosomal Recessive Congenital 1 (C565136)
..expandCataract, autosomal recessive congenital 2 (C535337)
..expandCataract, Autosomal Recessive Congenital 3 (C567835)
..expandCataract, Autosomal Recessive, Early-Onset, Pulverulent (C565298)
..expandCataract, Central Saccular, With Sutural Opacities (C565301)
..expandCataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
..expandCataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
..expandCataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
..expandCataract, Congenital Zonular, with Sutural Opacities (C563435)
..expandCataract, Congenital, Cerulean Type, 2 (C563294)
..expandCataract, Congenital, Cerulean Type, 3 (C563819)
..expandCataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy (C564353)
..expandCataract, congenital, with microcornea or slight microphthalmia (C535338)
..expandCataract, Coppock-Like (C565133)
..expandCataract, Cortical Pulverulent, Late-Onset (C563604)
..expandCataract, Cortical, Juvenile-Onset (C566955)
..expandCataract, Crystalline Aculeiform (C566162)
..expandCataract, Crystalline Coralliform (C566161)
..expandCataract, Floriform (C566160)
..expandCataract, Juvenile, With Microcornea And Glucosuria (C567434)
..expandCataract, Lamellar 2 (C566481)
..expandCataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..expandCataract, Nuclear Diffuse Nonprogressive (C566157)
..expandCataract, Nuclear Progressive (C564596)
..expandCataract, Nuclear Total (C566156)
..expandCataract, Polymorphic and Lamellar (C563603)
..expandCataract, posterior polar, 1 (C535339)
..expandCataract, Posterior Polar, 2 (C565134)
..expandCataract, posterior polar, 3 (C535343)
..expandCataract, posterior polar, 4 (C535344)
..expandCataract, posterior polar, 5 (C535340)
..expandCataract, Progressive Polymorphic Cortical (C565130)
..expandCataract, Pulverulent (C563426)
..expandCataract, Pulverulent, Juvenile-Onset (C565703)
..expandCataract, Punctate, Progressive Juvenile-Onset (C565131)
..expandCataract, Sutural, with Punctate and Cerulean Opacities (C564619)
..expandCataract, Variable Zonular Pulverulent (C565132)
..expandCataract, zonular (C535342)
..expandCataract, Zonular Central Nuclear (C565135)
..expandCataract, Zonular Pulverulent 1 (C566158)
..expandCataract, Zonular Pulverulent 3 (C566608)
..expandCataracts, ataxia, short stature, and mental retardation (C535345)
..expandCataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..expandCATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..expandCerebrooculofacioskeletal Syndrome 2 (C565185)
..expandCerebrooculofacioskeletal Syndrome 4 (C565184)
..expandCerulean cataract (C537955)
..expandCochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..expandCongenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..expandCONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..expandCornea guttata with anterior polar cataract (C535471)
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..expandCrome syndrome (C536216)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDeafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..expandDementia, familial Danish (C538209)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandEDICT SYNDROME (OMIM:614303)
..expandEnamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
..expandEncephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..expandFine-Lubinsky syndrome (C537933)
..expandFlynn Aird syndrome (C537066)
..expandGoldstein Hutt syndrome (C537282)
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..expandHydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
..expandHyperferritinemia, hereditary, with congenital cataracts (C538137)
..expandHypertrophic Neuropathy And Cataract (C565490)
..expandKahrizi Syndrome (C567196)
..expandKarandikar Maria Kamble syndrome (C537009)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandKrasnow Qazi syndrome (C537616)
..expandLeg, Absence Deformity of, with Congenital Cataract (C565442)
..expandLeukodystrophy, Hypomyelinating, 5 (C567166)
..expandLipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..expandLubinsky syndrome (C543092)
..expandMarinesco-Sjogren-like syndrome (MSLS) (C535913)
..expandMarshall syndrome (C536025)
..expandMartsolf syndrome (C536028)
..expandMicrocephalic primordial dwarfism Toriello type (C537321)
..expandMICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..expandMicrocephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..expandMicrophthalmia, Cataracts, and Iris Abnormalities (C566448)
..expandMicrophthalmia, Isolated, with Cataract 1 (C563582)
..expandMicrophthalmia, Isolated, with Cataract 2 (C565876)
..expandMicrophthalmia, Isolated, with Cataract 3 (C564452)
..expandMicrophthalmia, Isolated, with Cataract 4 (C566480)
..expandMicrophthalmia, syndromic 2 (C537465)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMuscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..expandMUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandMyopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)  LSDB  L: 00045;
..expandMYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
..expandNance-Horan syndrome (C538336)
..expandNathalie syndrome (C538342)
..expandNEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
..expandO'Donnell Pappas syndrome (C537858)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOsteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..expandPARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME (OMIM:606721)
..expandPavone Fiumara Rizzo syndrome (C536313)
..expandPeters anomaly with cataract (C537885)
..expandPolycystic Kidney, Cataract, and Congenital Blindness (C564882)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPremature aging, Okamoto type (C535270)
..expandRETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
..expandRETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
..expandSchaap Taylor Baraitser syndrome (C536626)
..expandSeemanova Lesny syndrome (C537536)
..expandSeow Najjar syndrome (C537584)
..expandSingh Chhaparwal Dhanda syndrome (C537341)
..expandSlavotinek Pike Mills Hurst syndrome (C536672)
..expandSpastic paraplegia 9, autosomal dominant (C536868)
..expandSpondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..expandSpondyloocular Syndrome, Autosomal Recessive (C565285)
..expandWarburg Sjo Fledelius syndrome (C536681)
..expandWellesley Carmen French syndrome (C536691)
..expandZonular cataract and nystagmus (C536727)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:109
Name:Absent corpus callosum cataract immunodeficiency
Definition:
Alternative IDs:DO:DOID:0060356|OMIM:242840
ParentIDs:MESH:D002386|MESH:D061085
TreeNumbers:C10.500.034/C535566 |C11.510.245/C535566 |C16.131.666.034/C535566 |C23.300.008/C535566
Synonyms:IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM |VICIS |Vici syndrome
Slim Mappings:Congenital abnormality|Eye disease|Nervous system disease|Pathology (anatomical condition)
Reference: MedGen: C535566
MeSH: C535566
OMIM: 242840;
MSeqDR LSDB:  
Genes: EPG5;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0002533Abnormal posturing
4 HP:0000777Abnormality of the thymus
5 HP:0001941Acidosis
6 HP:0001274Agenesis of corpus callosum
7 HP:0001022Albinism
8 HP:0001638Cardiomyopathy
9 HP:0001320Cerebellar vermis hypoplasia
10 HP:0002728Chronic mucocutaneous candidiasis
11 HP:0000175Cleft palate
12 HP:0000204Cleft upper lip
13 HP:0000519Congenital cataract
14 HP:0001635Congestive heart failure
15 HP:0002965Cutaneous anergy
16 HP:0005407Decreased proportion of CD4-positive T cells
17 HP:0005419Decreased T cell activation
18 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
19 HP:0001508Failure to thrive
20 HP:0001290Generalized hypotonia
21 HP:0001263Global developmental delay
NAMDC:  Mental retardation
22 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
23 HP:0001510Growth delay
NAMDC:  Growth delay
24 HP:0000316Hypertelorism
25 HP:0005599Hypopigmentation of hair
26 HP:0007894Hypopigmentation of the fundus
27 HP:0001010Hypopigmentation of the skin
28 HP:0004315IgG deficiency
29 HP:0002721Immunodeficiency
30 HP:0008348Immunoglobulin IgG2 deficiency
31 HP:0001712Left ventricular hypertrophy
32 HP:0000369Low-set ears
33 HP:0000252Microcephaly
34 HP:0000347Micrognathia
35 HP:0001270Motor delay
36 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
37 HP:0003198Myopathy
NAMDC:  Myopathy
38 HP:0000639Nystagmus
39 HP:0001107Ocular albinism
40 HP:0003244Penile hypospadias
41 HP:0002718Recurrent bacterial infections
42 HP:0002841Recurrent fungal infections
43 HP:0002205Recurrent respiratory infections
44 HP:0004429Recurrent viral infections
45 HP:0010636Schizencephaly
46 HP:0001250Seizures
NAMDC:  Seizures
47 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
HP:0040283
48 HP:0007314White matter neuronal heterotopia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000018.9:g.(?_43432412)_(43547225_?)dup57724EPG5Uncertain significance-1RCV001033528; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343241243547225nana-1-
NC_000018.9:g.(?_43432432)_(43462472_?)del57724EPG5Uncertain significance-1RCV001952778; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343243243462472nana-1-
NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln)57724EPG5Uncertain significance-1RCV001550170|RCV002032579; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343243643432436CT43432436-
NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly)57724EPG5Uncertain significancers1171989598RCV001336006; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343243743432437GC43432437-
NM_020964.3(EPG5):c.7726G>A (p.Asp2576Asn)57724EPG5Uncertain significance-1RCV001970790; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343244643432446CT43432446-
NM_020964.3(EPG5):c.7693G>A (p.Val2565Ile)57724EPG5Uncertain significancers777854920RCV000791693; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343247943432479CT18:g.43432479C>T-
NM_020964.3(EPG5):c.7692C>T (p.Leu2564=)57724EPG5Likely benignrs747189808RCV000981565; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343248043432480GA18:g.43432480G>A-
NM_020964.3(EPG5):c.7690C>T (p.Leu2564Phe)57724EPG5Uncertain significance-1RCV001903855; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343248243432482GA43432482-
NM_020964.3(EPG5):c.7685C>G (p.Ala2562Gly)57724EPG5Uncertain significance-1RCV001986974; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343248743432487GC43432487-
NM_020964.3(EPG5):c.7684G>T (p.Ala2562Ser)57724EPG5Uncertain significancers757431427RCV001315323; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343248843432488CA43432488-
NM_020964.3(EPG5):c.7674A>G (p.Lys2558=)57724EPG5Likely benignrs1555658766RCV000642232; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343249843432498TC18:g.43432498T>CClinGen:CA503793877C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.7668T>C (p.Asp2556=)57724EPG5Likely benign-1RCV001495504; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343250443432504AG43432504-
NM_020964.3(EPG5):c.7666G>A (p.Asp2556Asn)57724EPG5Uncertain significance-1RCV001990455; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343250643432506CT43432506-
NM_020964.3(EPG5):c.7660C>A (p.Leu2554Ile)57724EPG5Uncertain significance-1RCV001932213; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343251243432512GT43432512-
NM_020964.3(EPG5):c.7627G>A (p.Ala2543Thr)57724EPG5Uncertain significancers1172390303RCV001304027; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343254543432545CT43432545-
NM_020964.3(EPG5):c.7621T>C (p.Leu2541=)57724EPG5Likely benignrs371309452RCV000905220; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343255143432551AG18:g.43432551A>G-
NM_020964.3(EPG5):c.7612G>T (p.Asp2538Tyr)57724EPG5Uncertain significancers748731055RCV001208329; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343256043432560CA18:g.43432560C>A-
NM_020964.3(EPG5):c.7608C>T (p.Tyr2536=)57724EPG5Likely benign-1RCV001405093; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343256443432564GA43432564-
NM_020964.3(EPG5):c.7576T>G (p.Ser2526Ala)57724EPG5Uncertain significance-1RCV001932618; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343259643432596AC43432596-
NM_020964.3(EPG5):c.7568C>G (p.Ala2523Gly)57724EPG5Uncertain significancers2048438822RCV001320765; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343260443432604GC43432604-
NM_020964.3(EPG5):c.7565A>G (p.Asn2522Ser)57724EPG5Uncertain significancers2048438947RCV001305322; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343260743432607TC43432607-
NM_020964.3(EPG5):c.7558-8T>C57724EPG5Likely benignrs759398169RCV000924559; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343262243432622AG18:g.43432622A>G-
NM_020964.3(EPG5):c.7558-11G>A57724EPG5Benignrs57761448RCV000455202|RCV000841614|RCV001515821; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343262543432625CTNC_000018.9:g.43432625C>TClinGen:CA8947955CN169374 not specified;
NM_020964.3(EPG5):c.7558-15T>C57724EPG5Likely benign-1RCV002002471; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343262943432629AG43432629-
NM_020964.3(EPG5):c.7557+15T>C57724EPG5Benign/Likely benignrs59817706RCV000513961|RCV001509929; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343552343435523AG18:g.43435523A>GClinGen:CA8947967CN517202 not provided;
NM_020964.3(EPG5):c.7557+7A>G57724EPG5Likely benign-1RCV002101820; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343553143435531TC43435531-
NM_020964.3(EPG5):c.7545del (p.Ala2517fs)57724EPG5Uncertain significance-1RCV001994122; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343555043435550TGT43435549-
NM_020964.3(EPG5):c.7538T>C (p.Leu2513Pro)57724EPG5Uncertain significance-1RCV001968306; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343555743435557AG43435557-
NM_020964.3(EPG5):c.7526C>T (p.Ser2509Phe)57724EPG5Uncertain significancers1447140985RCV000802094; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343556943435569GA18:g.43435569G>A-
NM_020964.3(EPG5):c.7523G>T (p.Gly2508Val)57724EPG5Uncertain significancers751623844RCV001232165; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343557243435572CA18:g.43435572C>A-
NM_020964.3(EPG5):c.7520C>G (p.Pro2507Arg)57724EPG5Uncertain significance-1RCV001863378; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343557543435575GC43435575-
NM_020964.3(EPG5):c.7511G>A (p.Arg2504His)57724EPG5Uncertain significancers979554550RCV001235753; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343558443435584CT18:g.43435584C>T-
NM_020964.3(EPG5):c.7507A>G (p.Ile2503Val)57724EPG5Uncertain significance-1RCV001948163; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343558843435588TC43435588-
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)57724EPG5Conflicting interpretations of pathogenicityrs191244915RCV000642217|RCV001706694; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184343560043435600TCNC_000018.9:g.43435600T>CClinGen:CA8947976C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.7486C>G (p.Gln2496Glu)57724EPG5Uncertain significancers370315826RCV001241851; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343560943435609GC18:g.43435609G>C-
NM_020964.3(EPG5):c.7474T>A (p.Phe2492Ile)57724EPG5Uncertain significancers1374928586RCV001054881; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343562143435621AT18:g.43435621A>T-
NM_020964.3(EPG5):c.7460G>A (p.Arg2487Gln)57724EPG5Uncertain significancers912810095RCV000642212; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343563543435635CT18:g.43435635C>TClinGen:CA299688148C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.7459C>T (p.Arg2487Ter)57724EPG5Pathogenic-1RCV001388703; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343563643435636GA43435636-
NM_020964.3(EPG5):c.7458C>T (p.Ala2486=)57724EPG5Likely benignrs374322299RCV000892378; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343563743435637GA18:g.43435637G>A-
NM_020964.3(EPG5):c.7454T>A (p.Val2485Asp)57724EPG5Uncertain significancers777272603RCV001052396; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343564143435641AT18:g.43435641A>T-
NM_020964.3(EPG5):c.7448G>A (p.Arg2483Gln)57724EPG5Uncertain significance-1RCV001373182; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343564743435647CT43435647-
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)57724EPG5Pathogenic/Likely pathogenicrs863225064RCV000201265; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343564843435648GANC_000018.9:g.43435648G>AClinGen:CA279162,OMIM:615068.0006C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.7446C>T (p.Phe2482=)57724EPG5Likely benignrs528308462RCV000927684|RCV002066068; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343564943435649GA18:g.43435649G>A-
NM_020964.3(EPG5):c.7443-9A>T57724EPG5Likely benign-1RCV002218296; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343566143435661TA43435661-
NM_020964.3(EPG5):c.7443-14C>T57724EPG5Benign-1RCV001523154; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343566643435666GA43435666-
NM_020964.3(EPG5):c.7443-621A>G57724EPG5Uncertain significance-1RCV001839238; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343627343436273TC43436273-
NM_020964.3(EPG5):c.7442+17C>G57724EPG5Likely benign-1RCV001492349; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343780143437801GC43437801-
NM_020964.3(EPG5):c.7442+11G>A57724EPG5Likely benign-1RCV002199801; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343780743437807CT43437807-
NM_020964.3(EPG5):c.7442+5G>A57724EPG5Uncertain significance-1RCV001917192; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343781343437813CT43437813-
NM_020964.3(EPG5):c.7440C>G (p.Asn2480Lys)57724EPG5Uncertain significance-1RCV001889645; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343782043437820GC43437820-
NM_020964.3(EPG5):c.7428G>A (p.Ser2476=)57724EPG5Likely benign-1RCV002214726; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343783243437832CT43437832-
NM_020964.3(EPG5):c.7372G>T (p.Ala2458Ser)57724EPG5Uncertain significancers2048549989RCV001230532; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343788843437888CA18:g.43437888C>A-
NM_020964.3(EPG5):c.7368C>T (p.Leu2456=)57724EPG5Benignrs148229334RCV000902746|RCV001513328; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343789243437892GA18:g.43437892G>A-
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)57724EPG5Pathogenic/Likely pathogenicrs780889226RCV000691031; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343792743437927GA18:g.43437927G>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.7324T>C (p.Ser2442Pro)57724EPG5Uncertain significancers764577859RCV001231952; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343793643437936AG18:g.43437936A>G-
NM_020964.3(EPG5):c.7312G>A (p.Val2438Ile)57724EPG5Uncertain significance-1RCV002048161; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343794843437948CT43437948-
NM_020964.3(EPG5):c.7311C>T (p.Ser2437=)57724EPG5Likely benignrs377487870RCV000910748; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343794943437949GA18:g.43437949G>A-
NM_020964.3(EPG5):c.7307A>G (p.Asp2436Gly)57724EPG5Uncertain significancers2048551891RCV001209587; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343795343437953TC18:g.43437953T>C-
NM_020964.3(EPG5):c.7302G>A (p.Gln2434=)57724EPG5Likely benignrs140297677RCV000975403|RCV001454286; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343795843437958CT18:g.43437958C>T-
NM_020964.3(EPG5):c.7294A>T (p.Thr2432Ser)57724EPG5Uncertain significance-1RCV001910588; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343796643437966TA43437966-
NM_020964.3(EPG5):c.7287C>T (p.Leu2429=)57724EPG5Likely benign-1RCV001459164; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343797343437973GA43437973-
NM_020964.3(EPG5):c.7286T>A (p.Leu2429His)57724EPG5Uncertain significancers2048553005RCV001042655; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343797443437974AT18:g.43437974A>T-
NM_020964.3(EPG5):c.7266C>G (p.His2422Gln)57724EPG5Uncertain significancers2048553679RCV001346717; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343799443437994GC43437994-
NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg)57724EPG5Uncertain significancers777351158RCV001348105; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343800243438002AG43438002-
NM_020964.3(EPG5):c.7245A>C (p.Ala2415=)57724EPG5Likely benignrs1245397728RCV000932420; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343801543438015TG18:g.43438015T>G-
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys)57724EPG5Uncertain significancers1568094451RCV000768391; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343802043438020CTNC_000018.9:g.43438020C>T-
NM_020964.3(EPG5):c.7231G>A (p.Val2411Met)57724EPG5Uncertain significancers764568339RCV001346415; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343802943438029CT43438029-
NM_020964.3(EPG5):c.7230C>T (p.Ser2410=)57724EPG5Likely benign-1RCV002108124; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343803043438030GA43438030-
NM_020964.3(EPG5):c.7227-15C>T57724EPG5Likely benign-1RCV002087840; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343804843438048GA43438048-
NM_020964.3(EPG5):c.7226+6T>C57724EPG5Uncertain significancers775743724RCV001306478; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343852543438525AG43438525-
NM_020964.3(EPG5):c.7221C>T (p.Tyr2407=)57724EPG5Likely benign-1RCV001444543; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343853643438536GA43438536-
NM_020964.3(EPG5):c.7217T>G (p.Val2406Gly)57724EPG5Uncertain significance-1RCV001960883; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343854043438540AC43438540-
NM_020964.3(EPG5):c.7212A>G (p.Glu2404=)57724EPG5Likely benign-1RCV002220114; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343854543438545TC43438545-
NM_020964.3(EPG5):c.7210G>A (p.Glu2404Lys)57724EPG5Uncertain significance-1RCV001894184; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343854743438547CT43438547-
NM_020964.3(EPG5):c.7202A>G (p.Lys2401Arg)57724EPG5Uncertain significancers137887553RCV000687231; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343855543438555TC18:g.43438555T>C-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.7199G>A (p.Ser2400Asn)57724EPG5Uncertain significance-1RCV001952061; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343855843438558CT43438558-
NM_020964.3(EPG5):c.7191C>A (p.Leu2397=)57724EPG5Likely benignrs766126331RCV000941995|RCV001410933; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343856643438566GT18:g.43438566G>T-
NM_020964.3(EPG5):c.7174G>A (p.Glu2392Lys)57724EPG5Uncertain significancers1399290496RCV001322595; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343858343438583CT43438583-
NM_020964.3(EPG5):c.7170G>T (p.Arg2390Ser)57724EPG5Uncertain significance-1RCV001921888; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343858743438587CA43438587-
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val)57724EPG5Uncertain significancers199602966RCV000513502|RCV000817319; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343859243438592ACNC_000018.9:g.43438592A>CClinGen:CA8948067
NM_020964.3(EPG5):c.7156G>T (p.Glu2386Ter)57724EPG5Pathogenicrs373944025RCV001051976; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343860143438601CA18:g.43438601C>A-
NM_020964.3(EPG5):c.7155C>T (p.Ser2385=)57724EPG5Likely benignrs376292945RCV000920092; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343860243438602GA18:g.43438602G>A-
NM_020964.3(EPG5):c.7152C>A (p.Asn2384Lys)57724EPG5Uncertain significancers201507415RCV000804259; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343860543438605GT18:g.43438605G>T-
NM_020964.3(EPG5):c.7129G>A (p.Val2377Ile)57724EPG5Uncertain significance-1RCV001362884; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343862843438628CT43438628-
NM_020964.3(EPG5):c.7113T>C (p.Ser2371=)57724EPG5Likely benign-1RCV002073879; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343864443438644AG43438644-
NM_020964.3(EPG5):c.7082A>C (p.Glu2361Ala)57724EPG5Uncertain significancers374750937RCV000548275; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343867543438675TGNC_000018.9:g.43438675T>GClinGen:CA8948080C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.7068G>A (p.Glu2356=)57724EPG5Likely benign-1RCV002148126; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343868943438689CT43438689-
NM_020964.3(EPG5):c.7059G>A (p.Gln2353=)57724EPG5Likely benign-1RCV001479615; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343869843438698CT43438698-
NM_020964.3(EPG5):c.7057C>T (p.Gln2353Ter)57724EPG5Pathogenic-1RCV001909479; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343870043438700GA43438700-
NM_020964.3(EPG5):c.7056T>C (p.Leu2352=)57724EPG5Likely benign-1RCV001488660; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343870143438701AG43438701-
NM_020964.3(EPG5):c.7053C>T (p.Ser2351=)57724EPG5Likely benign-1RCV002157928; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343870443438704GA43438704-
NM_020964.3(EPG5):c.7028C>T (p.Ser2343Leu)57724EPG5Uncertain significancers1283916552RCV001046521; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343872943438729GA18:g.43438729G>A-
NM_020964.3(EPG5):c.7018A>C (p.Asn2340His)57724EPG5Uncertain significance-1RCV001914361; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343873943438739TG43438739-
NM_020964.3(EPG5):c.7013C>T (p.Pro2338Leu)57724EPG5Uncertain significancers2048570351RCV001313369; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184343874443438744GA43438744-
NM_020964.3(EPG5):c.7009+20C>T57724EPG5Benign-1RCV001514803; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344004943440049GA43440049-
NM_020964.3(EPG5):c.6996C>T (p.Ala2332=)57724EPG5Likely benign-1RCV001999981; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344008243440082GA43440082-
NM_020964.3(EPG5):c.6964A>G (p.Met2322Val)57724EPG5Uncertain significance-1RCV002041043; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344011443440114TC43440114-
NM_020964.3(EPG5):c.6955G>A (p.Val2319Ile)57724EPG5Uncertain significance-1RCV001955926; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344012343440123CT43440123-
NM_020964.3(EPG5):c.6954C>T (p.Ser2318=)57724EPG5Likely benign-1RCV002112733; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344012443440124GA43440124-
NM_020964.3(EPG5):c.6951G>A (p.Ala2317=)57724EPG5Likely benign-1RCV001475106; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344012743440127CT43440127-
NM_020964.3(EPG5):c.6939C>T (p.Cys2313=)57724EPG5Benignrs774873040RCV000917012; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344013943440139GA18:g.43440139G>A-
NM_020964.3(EPG5):c.6927A>G (p.Leu2309=)57724EPG5Likely benign-1RCV001478839; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344015143440151TC43440151-
NM_020964.3(EPG5):c.6921C>T (p.Pro2307=)57724EPG5Likely benign-1RCV002212259; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344015743440157GA43440157-
NM_020964.3(EPG5):c.6916C>T (p.Leu2306=)57724EPG5Likely benign-1RCV001434728; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344016243440162GA43440162-
NM_020964.3(EPG5):c.6889G>C (p.Gly2297Arg)57724EPG5Uncertain significancers1599429977RCV000814703; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344018943440189CG18:g.43440189C>G-
NM_020964.3(EPG5):c.6887T>C (p.Ile2296Thr)57724EPG5Uncertain significance-1RCV002014856; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344019143440191AG43440191-
NM_020964.3(EPG5):c.6885G>A (p.Trp2295Ter)57724EPG5Pathogenicrs772325682RCV001061407; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344019343440193CT18:g.43440193C>T-
NM_020964.3(EPG5):c.6877C>T (p.Arg2293Trp)57724EPG5Uncertain significance-1RCV001863495; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344020143440201GA43440201-
NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly)57724EPG5Uncertain significancers372382701RCV000432919|RCV000804353; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344020743440207TCNC_000018.9:g.43440207T>CClinGen:CA8948125CN169374 not specified;
NM_020964.3(EPG5):c.6855A>T (p.Ala2285=)57724EPG5Likely benignrs375424781RCV000907253; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344022343440223TA18:g.43440223T>A-
NM_020964.3(EPG5):c.6851C>G (p.Thr2284Arg)57724EPG5Uncertain significancers777908648RCV001322387; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344022743440227GC43440227-
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr)57724EPG5Uncertain significancers201213000RCV000690125; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344023343440233AG18:g.43440233A>G-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6844A>G (p.Ile2282Val)57724EPG5Uncertain significancers781691565RCV001338489; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344023443440234TC43440234-
NM_020964.3(EPG5):c.6839C>T (p.Ala2280Val)57724EPG5Uncertain significancers200754523RCV000642211; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344023943440239GA18:g.43440239G>AClinGen:CA8948133C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6838G>A (p.Ala2280Thr)57724EPG5Uncertain significance-1RCV001934852; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344024043440240CT43440240-
NM_020964.3(EPG5):c.6837C>T (p.Asn2279=)57724EPG5Likely benign-1RCV002162785; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344024143440241GA43440241-
NM_020964.3(EPG5):c.6826A>T (p.Met2276Leu)57724EPG5Uncertain significance-1RCV001929250; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344025243440252TA43440252-
NM_020964.3(EPG5):c.6825G>A (p.Met2275Ile)57724EPG5Uncertain significance-1RCV001361183|RCV001773718; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184344025343440253CT43440253-
NM_020964.3(EPG5):c.6816A>T (p.Glu2272Asp)57724EPG5Uncertain significancers766271900RCV001337174; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344026243440262TA43440262-
NM_020964.3(EPG5):c.6810T>C (p.Phe2270=)57724EPG5Likely benign-1RCV002172582; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344026843440268AG43440268-
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile)57724EPG5Uncertain significancers547681142RCV000642208; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344028643440286CA18:g.43440286C>AClinGen:CA8948145C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6787C>G (p.His2263Asp)57724EPG5Uncertain significancers201639757RCV000807688; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344029143440291GC18:g.43440291G>C-
NM_020964.3(EPG5):c.6785G>A (p.Arg2262His)57724EPG5Uncertain significancers375960377RCV001309312; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344029343440293CT43440293-
NM_020964.3(EPG5):c.6784C>T (p.Arg2262Cys)57724EPG5Uncertain significancers973783719RCV001321873; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344029443440294GA43440294-
NM_020964.3(EPG5):c.6769A>G (p.Met2257Val)57724EPG5Uncertain significancers201722679RCV000809919; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344030943440309TC18:g.43440309T>C-
NM_020964.3(EPG5):c.6768C>T (p.Asp2256=)57724EPG5Likely benign-1RCV002115297; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344031043440310GA43440310-
NM_020964.3(EPG5):c.6767-8C>T57724EPG5Likely benignrs748817848RCV000934457; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344031943440319GA18:g.43440319G>A-
NM_020964.3(EPG5):c.6766+15G>A57724EPG5Likely benign-1RCV002116709; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344556543445565CT43445565-
NM_020964.3(EPG5):c.6766+9C>G57724EPG5Likely benign-1RCV001409386; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344557143445571GC43445571-
NM_020964.3(EPG5):c.6766+9C>A57724EPG5Likely benign-1RCV001504707; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344557143445571GT43445571-
NM_020964.3(EPG5):c.6766+4A>C57724EPG5Uncertain significancers2048727518RCV001322386; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344557643445576TG43445576-
NM_020964.3(EPG5):c.6765C>T (p.Pro2255=)57724EPG5Uncertain significancers200203116RCV000793071; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344558143445581GA18:g.43445581G>A-
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu)57724EPG5Uncertain significancers776541656RCV001049741; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344558543445585GA18:g.43445585G>A-
NM_020964.3(EPG5):c.6752del (p.Val2251fs)57724EPG5Uncertain significancers1057516194RCV000408773; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344559443445594GAG18:g.43445594_43445594delClinGen:CA10654928C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6747C>T (p.Ile2249=)57724EPG5Likely benign-1RCV002120255; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344559943445599GA43445599-
NM_020964.3(EPG5):c.6743A>G (p.Asp2248Gly)57724EPG5Uncertain significance-1RCV001988245; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344560343445603TC43445603-
NM_020964.3(EPG5):c.6741C>T (p.Asp2247=)57724EPG5Likely benignrs371606723RCV000903878|RCV001473716; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344560543445605GA18:g.43445605G>A-
NM_020964.3(EPG5):c.6730A>G (p.Lys2244Glu)57724EPG5Likely benignrs560080785RCV000915923; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344561643445616TC18:g.43445616T>C-
NM_020964.3(EPG5):c.6726G>A (p.Met2242Ile)57724EPG5Uncertain significancers866193216RCV000818412; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344562043445620CT18:g.43445620C>T-
NM_020964.3(EPG5):c.6723A>G (p.Glu2241=)57724EPG5Likely benign-1RCV002149372; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344562343445623TC43445623-
NM_020964.3(EPG5):c.6717A>G (p.Glu2239=)57724EPG5Likely benign-1RCV002123602; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344562943445629TC43445629-
NM_020964.3(EPG5):c.6690T>C (p.Asn2230=)57724EPG5Likely benign-1RCV001448969; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344565643445656AG43445656-
NM_020964.3(EPG5):c.6680T>A (p.Leu2227Gln)57724EPG5Uncertain significance-1RCV001878036; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344566643445666AT43445666-
NM_020964.3(EPG5):c.6658A>G (p.Met2220Val)57724EPG5Uncertain significancers1431261711RCV001303455; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344568843445688TC43445688-
NM_020964.3(EPG5):c.6645T>C (p.Ala2215=)57724EPG5Likely benign-1RCV002100464; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344570143445701AG43445701-
NM_020964.3(EPG5):c.6641A>G (p.Gln2214Arg)57724EPG5Uncertain significance-1RCV002021102; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344570543445705TC43445705-
NM_020964.3(EPG5):c.6632C>T (p.Pro2211Leu)57724EPG5Uncertain significance-1RCV001906278; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344571443445714GA43445714-
NM_020964.3(EPG5):c.6623A>G (p.Asp2208Gly)57724EPG5Uncertain significancers1177226409RCV000823021; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344572343445723TC18:g.43445723T>C-
NM_020964.3(EPG5):c.6622-6G>T57724EPG5Likely benignrs1309916888RCV000535643; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344573043445730CA18:g.43445730C>AClinGen:CA629478922C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6622-23dup57724EPG5Benignrs11333207RCV000948463|RCV001573355; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184344573043445731CCA18:g.43445730_43445731insA-
NM_020964.3(EPG5):c.6622-23_6622-13dup57724EPG5Likely benign-1RCV001433180|RCV001540258; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184344573043445731CCAAAAAAAAAAA43445730-
NM_020964.3(EPG5):c.6622-23_6622-12dup57724EPG5Likely benign-1RCV001459556; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344573043445731CCAAAAAAAAAAAA43445730-
NM_020964.3(EPG5):c.6622-15_6622-7dup57724EPG5Likely benign-1RCV002154336; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344573043445731CCAAAAAAAAA43445730-
NM_020964.3(EPG5):c.6622-7del57724EPG5Benignrs11333207RCV000455860|RCV000625014|RCV000839790; NMedGen:CN169374|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184344573143445731CACNC_000018.9:g.43445747delClinGen:CA8948201CN169374 not specified;
NM_020964.3(EPG5):c.6622-9_6622-7del57724EPG5Benignrs11333207RCV000955539; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344573143445733CAAAC18:g.43445731_43445733del-
NM_020964.3(EPG5):c.6621+29A>G57724EPG5Benign-1RCV001661284|RCV001661285; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184344673443446734TC43446734-
NM_020964.3(EPG5):c.6621+14T>C57724EPG5Likely benign-1RCV001473162; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344674943446749AG43446749-
NM_020964.3(EPG5):c.6621+14T>A57724EPG5Likely benign-1RCV002117106; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344674943446749AT43446749-
NM_020964.3(EPG5):c.6621+13G>A57724EPG5Likely benign-1RCV002120055; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344675043446750CT43446750-
NM_020964.3(EPG5):c.6621+13G>C57724EPG5Likely benign-1RCV002110572; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344675043446750CG43446750-
NM_020964.3(EPG5):c.6595A>G (p.Ile2199Val)57724EPG5Uncertain significancers1555662276RCV000642210; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344678943446789TCNC_000018.9:g.43446789T>CClinGen:CA402338943C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6577del (p.Val2193fs)57724EPG5Pathogenicrs1599445663RCV000990092; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344680743446807ACA18:g.43446807_43446807del-
NM_020964.3(EPG5):c.6568C>T (p.Leu2190Phe)57724EPG5Uncertain significancers1280775043RCV001203508; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344681643446816GA18:g.43446816G>A-
NM_020964.3(EPG5):c.6546T>C (p.Ser2182=)57724EPG5Likely benign-1RCV002131627; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344683843446838AG43446838-
NM_020964.3(EPG5):c.6535G>A (p.Ala2179Thr)57724EPG5Uncertain significancers1245545639RCV000704152; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344684943446849CT18:g.43446849C>T-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6526A>G (p.Ile2176Val)57724EPG5Uncertain significancers201095962RCV001326309; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344685843446858TC43446858-
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=)57724EPG5Benignrs148683476RCV000642233; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344686243446862CTNC_000018.9:g.43446862C>TClinGen:CA8948247C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6521C>T (p.Pro2174Leu)57724EPG5Uncertain significance-1RCV001893134; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344686343446863GA43446863-
NM_020964.3(EPG5):c.6519G>A (p.Pro2173=)57724EPG5Likely benignrs762400421RCV000904652|RCV001426968; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344686543446865CT18:g.43446865C>T-
NM_020964.3(EPG5):c.6518C>T (p.Pro2173Leu)57724EPG5Uncertain significancers1476353006RCV001049859; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344686643446866GA18:g.43446866G>A-
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=)57724EPG5Benignrs114665741RCV000642231|RCV001613420; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184344686843446868GA18:g.43446868G>AClinGen:CA8948250C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6512A>G (p.His2171Arg)57724EPG5Uncertain significancers369070714RCV000797672; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344687243446872TC18:g.43446872T>C-
NM_020964.3(EPG5):c.6508A>G (p.Ser2170Gly)57724EPG5Uncertain significance-1RCV001878920; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344687643446876TC43446876-
NM_020964.3(EPG5):c.6501T>C (p.Tyr2167=)57724EPG5Likely benign-1RCV002203463; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344688343446883AG43446883-
NM_020964.3(EPG5):c.6483C>T (p.Tyr2161=)57724EPG5Likely benign-1RCV002153295; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344690143446901GA43446901-
NM_020964.3(EPG5):c.6480G>A (p.Ser2160=)57724EPG5Likely benignrs142224776RCV000886944|RCV001431407; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344690443446904CT18:g.43446904C>T-
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg)57724EPG5Uncertain significancers764947795RCV000692645; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344694843446948CTNC_000018.9:g.43446948C>T-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6421T>G (p.Leu2141Val)57724EPG5Uncertain significance-1RCV001992979; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344696343446963AC43446963-
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn)57724EPG5Uncertain significancers202038268RCV000792450|RCV001565604; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184344753643447536CT18:g.43447536C>T-
NM_020964.3(EPG5):c.6372G>T (p.Met2124Ile)57724EPG5Likely benign-1RCV001396241; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344756743447567CA43447567-
NM_020964.3(EPG5):c.6372G>A (p.Met2124Ile)57724EPG5Likely benign-1RCV001498095; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344756743447567CT43447567-
NM_020964.3(EPG5):c.6366C>T (p.Phe2122=)57724EPG5Likely benign-1RCV002190694; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344757343447573GA43447573-
NM_020964.3(EPG5):c.6364T>C (p.Phe2122Leu)57724EPG5Uncertain significance-1RCV001946104; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344757543447575AG43447575-
NM_020964.3(EPG5):c.6360C>T (p.Leu2120=)57724EPG5Likely benignrs373515613RCV000940414; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344757943447579GA18:g.43447579G>A-
NM_020964.3(EPG5):c.6353_6356del (p.Val2118fs)57724EPG5Pathogenicrs1599447883RCV000807682; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344758343447586GCAGAG18:g.43447583_43447586del-
NM_020964.3(EPG5):c.6340C>T (p.Arg2114Cys)57724EPG5Uncertain significancers775329245RCV001332379; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344759943447599GA43447599-
NM_020964.3(EPG5):c.6299T>G (p.Val2100Gly)57724EPG5Uncertain significancers201980410RCV001302583; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344764043447640AC43447640-
NM_020964.3(EPG5):c.6292G>T (p.Val2098Phe)57724EPG5Uncertain significancers377726262RCV001348902; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344764743447647CA43447647-
NM_020964.3(EPG5):c.6287A>C (p.Asn2096Thr)57724EPG5Uncertain significancers141854483RCV001888410; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344765243447652TG43447652-
NM_020964.3(EPG5):c.6283G>A (p.Val2095Ile)57724EPG5Uncertain significance-1RCV001882110; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344765643447656CT43447656-
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro)57724EPG5Uncertain significancers1568104317RCV000768390; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344766443447664AGNC_000018.9:g.43447664A>G-
NM_020964.3(EPG5):c.6262T>C (p.Leu2088=)57724EPG5Likely benign-1RCV002201263; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344767743447677AG43447677-
NM_020964.3(EPG5):c.6256T>G (p.Leu2086Val)57724EPG5Uncertain significancers200152090RCV001243924; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344768343447683AC18:g.43447683A>C-
NM_020964.3(EPG5):c.6253T>C (p.Phe2085Leu)57724EPG5Uncertain significance-1RCV001363792|RCV001762627; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184344768643447686AG43447686-
NM_020964.3(EPG5):c.6253T>G (p.Phe2085Val)57724EPG5Uncertain significance-1RCV002038337; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344768643447686AC43447686-
NM_020964.3(EPG5):c.6235G>A (p.Gly2079Arg)57724EPG5Uncertain significance-1RCV001908528; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344770443447704CT43447704-
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter)57724EPG5Pathogenicrs587776942RCV000033118; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344770743447707GANC_000018.9:g.43447707G>AClinGen:CA214402,OMIM:615068.0005C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6231A>G (p.Glu2077=)57724EPG5Likely benign-1RCV001394573; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344770843447708TC43447708-
NM_020964.3(EPG5):c.6226-18T>G57724EPG5Benign-1RCV002080833; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184344773143447731AC43447731-
NM_020964.3(EPG5):c.6225+17C>T57724EPG5Likely benign-1RCV002211654; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345051543450515GA43450515-
NM_020964.3(EPG5):c.6215C>G (p.Ala2072Gly)57724EPG5Uncertain significancers764464544RCV000802092; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345054243450542GC18:g.43450542G>C-
NM_020964.3(EPG5):c.6213G>A (p.Glu2071=)57724EPG5Likely benign-1RCV002199322; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345054443450544CT43450544-
NM_020964.3(EPG5):c.6204G>T (p.Met2068Ile)57724EPG5Uncertain significance-1RCV002045061; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345055343450553CA43450553-
NM_020964.3(EPG5):c.6201G>A (p.Gln2067=)57724EPG5Likely benign-1RCV002189819; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345055643450556CT43450556-
NM_020964.3(EPG5):c.6190C>T (p.His2064Tyr)57724EPG5Uncertain significancers1269756096RCV001306043; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345056743450567GA43450567-
NM_020964.3(EPG5):c.6187C>T (p.Leu2063=)57724EPG5Likely benign-1RCV002200921; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345057043450570GA43450570-
NM_020964.3(EPG5):c.6167G>A (p.Arg2056Gln)57724EPG5Uncertain significancers753386481RCV001039292; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345059043450590CT18:g.43450590C>T-
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)57724EPG5Conflicting interpretations of pathogenicityrs116076204RCV000421782|RCV000768206; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345059143450591GA18:g.43450591G>AClinGen:CA8948356CN169374 not specified;
NM_020964.3(EPG5):c.6162G>A (p.Thr2054=)57724EPG5Benignrs368651243RCV000642218; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345059543450595CTNC_000018.9:g.43450595C>TClinGen:CA8948358C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met)57724EPG5Benign/Likely benignrs200926094RCV000560030|RCV000609518; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN169374184345059643450596GA18:g.43450596G>AClinGen:CA8948359CN169374 not specified;
NM_020964.3(EPG5):c.6153C>T (p.Phe2051=)57724EPG5Likely benign-1RCV002109909; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345060443450604GA43450604-
NM_020964.3(EPG5):c.6148G>A (p.Ala2050Thr)57724EPG5Uncertain significance-1RCV002016980; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345060943450609CT43450609-
NM_020964.3(EPG5):c.6147C>T (p.Tyr2049=)57724EPG5Likely benignrs371980254RCV000882415; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345061043450610GA18:g.43450610G>A-
NM_020964.3(EPG5):c.6116C>T (p.Thr2039Ile)57724EPG5Uncertain significancers768999379RCV000697078; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345064143450641GANC_000018.9:g.43450641G>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg)57724EPG5Uncertain significancers375057925RCV000768385; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345064543450645AGNC_000018.9:g.43450645A>G-
NM_020964.3(EPG5):c.6112T>G (p.Cys2038Gly)57724EPG5Uncertain significancers375057925RCV001055245; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345064543450645AC18:g.43450645A>C-
NM_020964.3(EPG5):c.6095T>G (p.Met2032Arg)57724EPG5Uncertain significance-1RCV001977432; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345066243450662AC43450662-
NM_020964.3(EPG5):c.6093G>A (p.Leu2031=)57724EPG5Likely benign-1RCV001454979; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345066443450664CT43450664-
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)57724EPG5Pathogenic/Likely pathogenicrs1568107449RCV000761428; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345067343450673CTNC_000018.9:g.43450673C>T-
NM_020964.3(EPG5):c.6078C>A (p.Ala2026=)57724EPG5Benignrs368663653RCV000896480|RCV001521127; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345067943450679GT18:g.43450679G>T-
NM_020964.3(EPG5):c.6069T>C (p.Asp2023=)57724EPG5Likely benign-1RCV001414216; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345068843450688AG43450688-
NM_020964.3(EPG5):c.6068A>T (p.Asp2023Val)57724EPG5Uncertain significance-1RCV001977161; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345068943450689TA43450689-
NM_020964.3(EPG5):c.6057G>A (p.Leu2019=)57724EPG5Likely benign-1RCV001485379; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345070043450700CT43450700-
NM_020964.3(EPG5):c.6050-4C>G57724EPG5Likely benign-1RCV001430346; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345071143450711GC43450711-
NM_020964.3(EPG5):c.6050-20A>G57724EPG5Likely benign-1RCV002112431; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345072743450727TC43450727-
NM_020964.3(EPG5):c.6049+5G>A57724EPG5Likely pathogenicrs2048968935RCV001089501; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345619643456196CT18:g.43456196C>T-
NM_020964.3(EPG5):c.6049+4G>A57724EPG5Uncertain significance-1RCV001907826; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345619743456197CT43456197-
NM_020964.3(EPG5):c.6044T>C (p.Phe2015Ser)57724EPG5Uncertain significancers756154171RCV000803870; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345620643456206AG18:g.43456206A>G-
NM_020964.3(EPG5):c.6037G>A (p.Glu2013Lys)57724EPG5Uncertain significancers374158728RCV000521515|RCV001853669; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345621343456213CT18:g.43456213C>TClinGen:CA8948408CN169374 not specified;
NM_020964.3(EPG5):c.6014C>T (p.Thr2005Ile)57724EPG5Uncertain significance-1RCV001950475; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345623643456236GA43456236-
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter)57724EPG5Likely pathogenicrs1568112516RCV000768386; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345625743456257GCNC_000018.9:g.43456257G>C-
NM_020964.3(EPG5):c.5985G>A (p.Val1995=)57724EPG5Likely benign-1RCV002088745; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345626543456265CT43456265-
NM_020964.3(EPG5):c.5981C>T (p.Thr1994Ile)57724EPG5Uncertain significancers777008903RCV000700002; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345626943456269GA18:g.43456269G>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5972A>G (p.Glu1991Gly)57724EPG5Uncertain significancers2048970400RCV001319442; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345627843456278TC43456278-
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter)57724EPG5Likely pathogenicrs1568112543RCV000768388; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345628443456284CTNC_000018.9:g.43456284C>T-
NM_020964.3(EPG5):c.5960A>T (p.Tyr1987Phe)57724EPG5Uncertain significance-1RCV001961525; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345629043456290TA43456290-
NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln)57724EPG5Benign/Likely benignrs34674177RCV000542934|RCV001538460; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184345629643456296CT18:g.43456296C>TClinGen:CA8948415C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5953C>T (p.Arg1985Trp)57724EPG5Uncertain significancers146306069RCV001218558; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345629743456297GA18:g.43456297G>A-
NM_020964.3(EPG5):c.5949A>G (p.Gln1983=)57724EPG5Likely benign-1RCV001476257; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345630143456301TC43456301-
NM_020964.3(EPG5):c.5943-9_5943-5del57724EPG5Pathogenic-1RCV001598701; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345631243456316TAAAGAT43456311-
NM_020964.3(EPG5):c.5943-14T>C57724EPG5Likely benign-1RCV002135434; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345632143456321AG43456321-
NM_020964.3(EPG5):c.5942+7A>G57724EPG5Likely benign-1RCV002121891; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345833443458334TC43458334-
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter)57724EPG5Pathogenicrs763614919RCV000705880; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345834543458345CA18:g.43458345C>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5937C>A (p.Asn1979Lys)57724EPG5Uncertain significancers150214973RCV000642215; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345834643458346GTNC_000018.9:g.43458346G>TClinGen:CA8948438C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5929G>C (p.Glu1977Gln)57724EPG5Uncertain significance-1RCV001971793; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345835443458354CG43458354-
NM_020964.3(EPG5):c.5885A>G (p.His1962Arg)57724EPG5Uncertain significancers1295248603RCV001050944; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345839843458398TC18:g.43458398T>C-
NM_020964.3(EPG5):c.5872C>T (p.Leu1958=)57724EPG5Likely benign-1RCV002204566; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345841143458411GA43458411-
NM_020964.3(EPG5):c.5870-2A>G57724EPG5Pathogenicrs1599474108RCV000990093; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345841543458415TC18:g.43458415T>C-
NM_020964.3(EPG5):c.5870-18G>A57724EPG5Likely benign-1RCV002204895; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345843143458431CT43458431-
NM_020964.3(EPG5):c.5869+19G>T57724EPG5Likely benign-1RCV002137095; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345895943458959CA43458959-
NM_020964.3(EPG5):c.5869+18C>T57724EPG5Benign-1RCV001515505; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345896043458960GA43458960-
NM_020964.3(EPG5):c.5869+12C>T57724EPG5Likely benign-1RCV002183736; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345896643458966GA43458966-
NM_020964.3(EPG5):c.5869+8A>G57724EPG5Likely benign-1RCV002107486; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345897043458970TC43458970-
NM_020964.3(EPG5):c.5854G>A (p.Ala1952Thr)57724EPG5Uncertain significancers111806310RCV001320992; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345899343458993CT43458993-
NM_020964.3(EPG5):c.5823A>G (p.Leu1941=)57724EPG5Likely benign-1RCV002156625; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345902443459024TC43459024-
NM_020964.3(EPG5):c.5785A>G (p.Thr1929Ala)57724EPG5Uncertain significancers968834469RCV001309731; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345906243459062TC43459062-
NM_020964.3(EPG5):c.5774del (p.Ala1925fs)57724EPG5Pathogenic-1RCV001824246; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345907343459073AGA43459072-
NM_020964.3(EPG5):c.5774C>G (p.Ala1925Gly)57724EPG5Uncertain significance-1RCV001981114; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345907343459073GC43459073-
NM_020964.3(EPG5):c.5762G>A (p.Ser1921Asn)57724EPG5Uncertain significance-1RCV001945508; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345908543459085CT43459085-
NM_020964.3(EPG5):c.5761A>T (p.Ser1921Cys)57724EPG5Uncertain significance-1RCV001373463; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345908643459086TA43459086-
NM_020964.3(EPG5):c.5754A>C (p.Ser1918=)57724EPG5Likely benign-1RCV001410228; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345909343459093TG43459093-
NM_020964.3(EPG5):c.5737A>T (p.Ser1913Cys)57724EPG5Uncertain significancers1555666104RCV000642216; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345911043459110TA18:g.43459110T>AClinGen:CA402342838C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5735A>C (p.Lys1912Thr)57724EPG5Uncertain significancers754227425RCV000822235; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345911243459112TG18:g.43459112T>G-
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp)57724EPG5Uncertain significancers759013844RCV000522129|RCV001361517; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345913443459134GA18:g.43459134G>AClinGen:CA8948490CN169374 not specified;
NM_020964.3(EPG5):c.5700T>C (p.Phe1900=)57724EPG5Benignrs34545102RCV000534804|RCV001644648; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184345914743459147AG18:g.43459147A>GClinGen:CA8948494C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5697C>T (p.Asp1899=)57724EPG5Likely benign-1RCV002111673; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345915043459150GA43459150-
NM_020964.3(EPG5):c.5689C>T (p.Leu1897Phe)57724EPG5Uncertain significancers2049037342RCV001245754; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345915843459158GA18:g.43459158G>A-
NM_020964.3(EPG5):c.5680A>G (p.Ile1894Val)57724EPG5Uncertain significancers138221907RCV001348552; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345916743459167TC43459167-
NM_020964.3(EPG5):c.5676G>A (p.Glu1892=)57724EPG5Likely benign-1RCV002144252; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345917143459171CT43459171-
NM_020964.3(EPG5):c.5674G>C (p.Glu1892Gln)57724EPG5Uncertain significancers773270236RCV001345842; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345917343459173CG43459173-
NM_020964.3(EPG5):c.5668-15A>G57724EPG5Likely benign-1RCV002117421; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184345919443459194TC43459194-
NM_020964.3(EPG5):c.5667+16T>C57724EPG5Likely benign-1RCV002076766; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346002443460024AG43460024-
NM_020964.3(EPG5):c.5667+4T>C57724EPG5Uncertain significancers2049058336RCV001042470; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346003643460036AG18:g.43460036A>G-
NM_020964.3(EPG5):c.5664G>A (p.Lys1888=)57724EPG5Likely benign-1RCV001418555; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346004343460043CT43460043-
NM_020964.3(EPG5):c.5659_5660del (p.Asp1887fs)57724EPG5Pathogenicrs2049058963RCV001265567; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346004743460048GTCG18:g.43460047_43460048del-
NM_020964.3(EPG5):c.5653_5654del (p.Leu1885fs)57724EPG5Pathogenic-1RCV001870174; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346005343460054CAAC43460052-
NM_020964.3(EPG5):c.5653T>C (p.Leu1885=)57724EPG5Benignrs114131140RCV000559188; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346005443460054AG18:g.43460054A>GClinGen:CA8948532C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5648C>T (p.Ala1883Val)57724EPG5Uncertain significancers750003350RCV001048677; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346005943460059GA18:g.43460059G>A-
NM_020964.3(EPG5):c.5637C>G (p.Ser1879Arg)57724EPG5Uncertain significance-1RCV001973203; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346007043460070GC43460070-
NM_020964.3(EPG5):c.5636G>A (p.Ser1879Asn)57724EPG5Uncertain significancers1213600316RCV000642207; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346007143460071CT18:g.43460071C>TClinGen:CA402343390C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5634C>T (p.Pro1878=)57724EPG5Likely benign-1RCV002172961; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346007343460073GA43460073-
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)57724EPG5Likely benignrs376297358RCV000642222; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346007643460076AGNC_000018.9:g.43460076A>GClinGen:CA8948538C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5618A>T (p.Glu1873Val)57724EPG5Benignrs148241618RCV000908812; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346008943460089TA18:g.43460089T>A-
NM_020964.3(EPG5):c.5617G>T (p.Glu1873Ter)57724EPG5Pathogenic-1RCV001992351; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346009043460090CA43460090-
NM_020964.3(EPG5):c.5616C>T (p.Thr1872=)57724EPG5Benignrs141282194RCV000908813; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346009143460091GA18:g.43460091G>A-
NM_020964.3(EPG5):c.5616C>A (p.Thr1872=)57724EPG5Likely benignrs141282194RCV000929423; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346009143460091GT18:g.43460091G>T-
NM_020964.3(EPG5):c.5614A>G (p.Thr1872Ala)57724EPG5Uncertain significancers1568116795RCV000701997; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346009343460093TC18:g.43460093T>C-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5610G>A (p.Ala1870=)57724EPG5Likely benign-1RCV002096603; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346009743460097CT43460097-
NM_020964.3(EPG5):c.5603G>A (p.Gly1868Glu)57724EPG5Uncertain significance-1RCV002045990; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346010443460104CT43460104-
NM_020964.3(EPG5):c.5602G>T (p.Gly1868Trp)57724EPG5Uncertain significancers762207905RCV000624316|RCV000685343; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346010543460105CA18:g.43460105C>AClinGen:CA8948548C0950123 Inborn genetic diseases;
NM_020964.3(EPG5):c.5602G>C (p.Gly1868Arg)57724EPG5Uncertain significance-1RCV001978958; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346010543460105CG43460105-
NM_020964.3(EPG5):c.5592C>G (p.Ser1864Arg)57724EPG5Uncertain significance-1RCV001874596; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346011543460115GC43460115-
NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn)57724EPG5Benignrs34064739RCV000546636|RCV000839726; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184346011643460116CTNC_000018.9:g.43460116C>TClinGen:CA8948549C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr)57724EPG5Benignrs34977955RCV000529467; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346012343460123CT18:g.43460123C>TClinGen:CA8948552C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser)57724EPG5Uncertain significancers34977955RCV001301725; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346012343460123CA43460123-
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=)57724EPG5Benign/Likely benignrs200372908RCV000553319|RCV001552551; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184346012443460124GA18:g.43460124G>AClinGen:CA8948554C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5576G>T (p.Gly1859Val)57724EPG5Uncertain significance-1RCV001371779; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346013143460131CA43460131-
NM_020964.3(EPG5):c.5563C>G (p.Leu1855Val)57724EPG5Uncertain significance-1RCV001888324; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346014443460144GC43460144-
NM_020964.3(EPG5):c.5560A>T (p.Thr1854Ser)57724EPG5Uncertain significancers758263741RCV000798553; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346014743460147TA18:g.43460147T>A-
NM_020964.3(EPG5):c.5548T>A (p.Cys1850Ser)57724EPG5Uncertain significancers1599479322RCV001350076; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346015943460159AT43460159-
NM_020964.3(EPG5):c.5548T>C (p.Cys1850Arg)57724EPG5Uncertain significance-1RCV002000391; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346015943460159AG43460159-
NM_020964.3(EPG5):c.5545G>A (p.Glu1849Lys)57724EPG5Uncertain significancers777698208RCV000820205; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346016243460162CT18:g.43460162C>T-
NM_020964.3(EPG5):c.5544C>T (p.Pro1848=)57724EPG5Benign-1RCV001515335; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346016343460163GA43460163-
NM_020964.3(EPG5):c.5541C>T (p.Ser1847=)57724EPG5Likely benign-1RCV002130577; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346016643460166GA43460166-
NM_020964.3(EPG5):c.5532G>A (p.Gln1844=)57724EPG5Likely benign-1RCV002118634; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346017543460175CT43460175-
NM_020964.3(EPG5):c.5531A>G (p.Gln1844Arg)57724EPG5Uncertain significance-1RCV001903198; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346017643460176TC43460176-
NM_020964.3(EPG5):c.5526G>A (p.Ala1842=)57724EPG5Uncertain significancers749486885RCV001294946; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346018143460181CT43460181-
NM_020964.3(EPG5):c.5525C>T (p.Ala1842Val)57724EPG5Uncertain significance-1RCV001936198; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346018243460182GA43460182-
NM_020964.3(EPG5):c.5518+15T>G57724EPG5Uncertain significance-1RCV001967033; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346222443462224AC43462224-
NM_020964.3(EPG5):c.5518+15T>A57724EPG5Likely benign-1RCV002085996; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346222443462224AT43462224-
NM_020964.3(EPG5):c.5518+9C>T57724EPG5Likely benign-1RCV002086387; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346223043462230GA43462230-
NM_020964.3(EPG5):c.5500C>A (p.Leu1834Ile)57724EPG5Uncertain significancers2049113990RCV001338516; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346225743462257GT43462257-
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala)57724EPG5Likely pathogenicrs1568118775RCV000768393; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346227843462278GCNC_000018.9:g.43462278G>C-
NM_020964.3(EPG5):c.5432T>G (p.Phe1811Cys)57724EPG5Uncertain significancers759019063RCV001224129; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346232543462325AC18:g.43462325A>C-
NM_020964.3(EPG5):c.5427G>A (p.Met1809Ile)57724EPG5Uncertain significance-1RCV002030426; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346233043462330CT43462330-
NM_020964.3(EPG5):c.5420T>C (p.Ile1807Thr)57724EPG5Uncertain significance-1RCV001946193; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346233743462337AG43462337-
NM_020964.3(EPG5):c.5403T>A (p.Leu1801=)57724EPG5Uncertain significance-1RCV001906849; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346235443462354AT43462354-
NM_020964.3(EPG5):c.5400C>A (p.Gly1800=)57724EPG5Likely benign-1RCV002182453; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346235743462357GT43462357-
NM_020964.3(EPG5):c.5390C>G (p.Thr1797Ser)57724EPG5Uncertain significancers1411482327RCV001038679; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346236743462367GC18:g.43462367G>C-
NM_020964.3(EPG5):c.5382_5388del (p.Ala1795fs)57724EPG5Pathogenic-1RCV001908933; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346236943462375TAAGTGCCT43462368-
NM_020964.3(EPG5):c.5385A>T (p.Ala1795=)57724EPG5Likely benignrs376809635RCV000924413; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346237243462372TA18:g.43462372T>A-
NM_020964.3(EPG5):c.5383G>T (p.Ala1795Ser)57724EPG5Uncertain significancers369731452RCV000800524; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346237443462374CA18:g.43462374C>A-
NM_020964.3(EPG5):c.5371T>C (p.Ser1791Pro)57724EPG5Uncertain significancers2049117384RCV001212947; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346238643462386AG18:g.43462386A>G-
NM_020964.3(EPG5):c.5359A>G (p.Arg1787Gly)57724EPG5Uncertain significancers750395264RCV001060142; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346239843462398TC18:g.43462398T>C-
NM_020964.3(EPG5):c.5344C>T (p.Leu1782=)57724EPG5Likely benign-1RCV001430380; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346241343462413GA43462413-
NM_020964.3(EPG5):c.5328C>T (p.Ser1776=)57724EPG5Likely benignrs200449609RCV000906037|RCV001465786; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346242943462429GA18:g.43462429G>A-
NM_020964.3(EPG5):c.5322G>T (p.Trp1774Cys)57724EPG5Uncertain significance-1RCV002046775; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346243543462435CA43462435-
NM_020964.3(EPG5):c.5310T>C (p.Asp1770=)57724EPG5Likely benignrs376326191RCV000907296|RCV001408665; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346244743462447AG18:g.43462447A>G-
NM_020964.3(EPG5):c.5308G>A (p.Asp1770Asn)57724EPG5Benignrs554975133RCV000891889|RCV001520103; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346244943462449CT18:g.43462449C>T-
NM_020964.3(EPG5):c.5307C>T (p.Phe1769=)57724EPG5Likely benignrs369940983RCV000979936|RCV001471171; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346245043462450GA18:g.43462450G>A-
NM_020964.3(EPG5):c.5305-11T>C57724EPG5Likely benign-1RCV001403775; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346246343462463AG43462463-
NM_020964.3(EPG5):c.5305-18G>A57724EPG5Likely benign-1RCV002116306; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346247043462470CT43462470-
NM_020964.3(EPG5):c.5273A>G (p.Asn1758Ser)57724EPG5Likely benignrs143519809RCV000960464; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346461343464613TC18:g.43464613T>C-
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=)57724EPG5Benignrs76331338RCV000827223|RCV001082757; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346465743464657GANC_000018.9:g.43464657G>AClinGen:CA8948641C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.5218C>A (p.Pro1740Thr)57724EPG5Uncertain significance-1RCV002013273; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346466843464668GT43464668-
NM_020964.3(EPG5):c.5213C>T (p.Ala1738Val)57724EPG5Uncertain significance-1RCV001924897; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346467343464673GA43464673-
NM_020964.3(EPG5):c.5210A>G (p.Asn1737Ser)57724EPG5Uncertain significance-1RCV001880951; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346467643464676TC43464676-
NM_020964.3(EPG5):c.5205T>A (p.Thr1735=)57724EPG5Likely benign-1RCV002161376; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346468143464681AT43464681-
NM_020964.3(EPG5):c.5203A>G (p.Thr1735Ala)57724EPG5Uncertain significance-1RCV001937786; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346468343464683TC43464683-
NM_020964.3(EPG5):c.5146G>A (p.Val1716Ile)57724EPG5Uncertain significancers370311674RCV001040184; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346474043464740CT18:g.43464740C>T-
NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp)57724EPG5Uncertain significancers750664406RCV001299535; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346476343464763CT43464763-
NM_020964.3(EPG5):c.5110G>A (p.Val1704Ile)57724EPG5Uncertain significance-1RCV001919952; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346477643464776CT43464776-
NM_020964.3(EPG5):c.5110-4C>G57724EPG5Likely benignrs1599490108RCV000975756|RCV001494011; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346478043464780GC18:g.43464780G>C-
NM_020964.3(EPG5):c.5109+16C>T57724EPG5Likely benign-1RCV002158915; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346770043467700GA43467700-
NM_020964.3(EPG5):c.5109+6G>T57724EPG5Uncertain significance-1RCV002004020; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346771043467710CA43467710-
NM_020964.3(EPG5):c.5087C>T (p.Ser1696Leu)57724EPG5Uncertain significance-1RCV002024571; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346773843467738GA43467738-
NM_020964.3(EPG5):c.5070A>G (p.Thr1690=)57724EPG5Benignrs35073566RCV000895178; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346775543467755TC18:g.43467755T>C-
NM_020964.3(EPG5):c.5057G>A (p.Arg1686His)57724EPG5Uncertain significance-1RCV001920961; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346776843467768CT43467768-
NM_020964.3(EPG5):c.5052G>A (p.Thr1684=)57724EPG5Likely benignrs199648768RCV000585133|RCV001084904; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346777343467773CT18:g.43467773C>TClinGen:CA8948687CN517202 not provided;
NM_020964.3(EPG5):c.5051C>T (p.Thr1684Met)57724EPG5Uncertain significancers188800635RCV000822591; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346777443467774GA18:g.43467774G>A-
NM_020964.3(EPG5):c.5037C>T (p.Tyr1679=)57724EPG5Likely benignrs374671966RCV000926561; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346778843467788GA18:g.43467788G>A-
NM_020964.3(EPG5):c.5033A>C (p.Asp1678Ala)57724EPG5Uncertain significancers2049251601RCV001210941; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346779243467792TG18:g.43467792T>G-
NM_020964.3(EPG5):c.5028T>C (p.Ile1676=)57724EPG5Likely benign-1RCV001396523; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346779743467797AG43467797-
NM_020964.3(EPG5):c.5026A>G (p.Ile1676Val)57724EPG5Uncertain significancers2049251873RCV001047987; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346779943467799TC18:g.43467799T>C-
NM_020964.3(EPG5):c.5023A>G (p.Thr1675Ala)57724EPG5Uncertain significancers200776693RCV000809602; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346780243467802TC18:g.43467802T>C-
NM_020964.3(EPG5):c.5022_5023insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG57724EPG5Pathogenic-1RCV001928785; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346780243467803TTAAAGAAAAGGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAA43467802-
NM_020964.3(EPG5):c.5016T>A (p.Leu1672=)57724EPG5Likely benign-1RCV002183888; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346780943467809AT43467809-
NM_020964.3(EPG5):c.4989T>G (p.Pro1663=)57724EPG5Likely benign-1RCV002158379; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346783643467836AC43467836-
NM_020964.3(EPG5):c.4988C>T (p.Pro1663Leu)57724EPG5Uncertain significancers375606930RCV000816188; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346783743467837GA18:g.43467837G>A-
NM_020964.3(EPG5):c.4968C>G (p.Ala1656=)57724EPG5Likely benign-1RCV001395636; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346785743467857GC43467857-
NM_020964.3(EPG5):c.4966G>T (p.Ala1656Ser)57724EPG5Uncertain significancers756852013RCV001222240; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346785943467859CA18:g.43467859C>A-
NM_020964.3(EPG5):c.4965T>G (p.Asn1655Lys)57724EPG5Uncertain significancers2049253483RCV001344602; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346786043467860AC43467860-
NM_020964.3(EPG5):c.4952+2dup57724EPG5Uncertain significance-1RCV002009695; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346976043469761TTA43469760-
NM_020964.3(EPG5):c.4952+1G>A57724EPG5Likely pathogenic-1RCV002040223; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346976243469762CT43469762-
NM_020964.3(EPG5):c.4923A>C (p.Glu1641Asp)57724EPG5Uncertain significance-1RCV001979047; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346979243469792TG43469792-
NM_020964.3(EPG5):c.4916T>A (p.Ile1639Asn)57724EPG5Uncertain significancers375030392RCV001323459; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346979943469799AT43469799-
NM_020964.3(EPG5):c.4903C>T (p.Pro1635Ser)57724EPG5Uncertain significance-1RCV002003972; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346981243469812GA43469812-
NM_020964.3(EPG5):c.4891G>A (p.Ala1631Thr)57724EPG5Likely benignrs182512524RCV000973577; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346982443469824CT18:g.43469824C>T-
NM_020964.3(EPG5):c.4861C>T (p.Arg1621Trp)57724EPG5Uncertain significance-1RCV001940504; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346985443469854GA43469854-
NM_020964.3(EPG5):c.4837A>G (p.Ile1613Val)57724EPG5Uncertain significance-1RCV002019246; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184346987843469878TC43469878-
NM_020964.3(EPG5):c.4803G>A (p.Thr1601=)57724EPG5Likely benign-1RCV001405159; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347937543479375CT43479375-
NM_020964.3(EPG5):c.4802C>T (p.Thr1601Met)57724EPG5Likely benignrs200576622RCV000887836; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347937643479376GA18:g.43479376G>A-
NM_020964.3(EPG5):c.4792G>T (p.Ala1598Ser)57724EPG5Uncertain significance-1RCV001902990; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347938643479386CA43479386-
NM_020964.3(EPG5):c.4791C>T (p.Ala1597=)57724EPG5Likely benignrs368086133RCV000552530; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347938743479387GA18:g.43479387G>AClinGen:CA8948758C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4790C>T (p.Ala1597Val)57724EPG5Uncertain significance-1RCV001998682; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347938843479388GA43479388-
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter)57724EPG5Likely pathogenicrs1568133724RCV000768398; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347939543479395GANC_000018.9:g.43479395G>A-
NM_020964.3(EPG5):c.4771G>A (p.Gly1591Ser)57724EPG5Uncertain significancers370120497RCV001343776; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347940743479407CT43479407-
NM_020964.3(EPG5):c.4771G>T (p.Gly1591Cys)57724EPG5Uncertain significance-1RCV001954336; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347940743479407CA43479407-
NM_020964.3(EPG5):c.4766G>A (p.Ser1589Asn)57724EPG5Uncertain significancers201062477RCV000809633; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347941243479412CT18:g.43479412C>T-
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)57724EPG5Pathogenic/Likely pathogenicrs1568133760RCV000768397; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347942743479427ATNC_000018.9:g.43479427A>T-
NM_020964.3(EPG5):c.4747C>T (p.His1583Tyr)57724EPG5Uncertain significance-1RCV001864834; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347943143479431GA43479431-
NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro)57724EPG5Uncertain significancers1345938343RCV001332378; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347943343479433AG43479433-
NM_020964.3(EPG5):c.4743A>G (p.Thr1581=)57724EPG5Likely benign-1RCV001418048; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347943543479435TC43479435-
NM_020964.3(EPG5):c.4738A>G (p.Thr1580Ala)57724EPG5Uncertain significance-1RCV001904266; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347944043479440TC43479440-
NM_020964.3(EPG5):c.4726C>T (p.Arg1576Cys)57724EPG5Uncertain significance-1RCV001979980; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347945243479452GA43479452-
NM_020964.3(EPG5):c.4713G>A (p.Lys1571=)57724EPG5Likely benign-1RCV001475327; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347946543479465CT43479465-
NM_020964.3(EPG5):c.4705A>G (p.Met1569Val)57724EPG5Uncertain significance-1RCV001373616; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347947343479473TC43479473-
NM_020964.3(EPG5):c.4700A>G (p.Asp1567Gly)57724EPG5Uncertain significance-1RCV002007728; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347947843479478TC43479478-
NM_020964.3(EPG5):c.4687G>T (p.Gly1563Cys)57724EPG5Uncertain significancers751554863RCV000700590; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347949143479491CA18:g.43479491C>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4686T>C (p.Asp1562=)57724EPG5Likely benign-1RCV002121704; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347949243479492AG43479492-
NM_020964.3(EPG5):c.4681C>G (p.Leu1561Val)57724EPG5Uncertain significancers944495980RCV001041160; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347949743479497GC18:g.43479497G>C-
NM_020964.3(EPG5):c.4679C>A (p.Ala1560Asp)57724EPG5Uncertain significance-1RCV001923702; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347949943479499GT43479499-
NM_020964.3(EPG5):c.4677T>A (p.Val1559=)57724EPG5Likely benign-1RCV001482468; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347950143479501AT43479501-
NM_020964.3(EPG5):c.4665del (p.Glu1555fs)57724EPG5Likely pathogenicrs1057519318RCV000416351; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347951343479513ATANC_000018.9:g.43479514delClinGen:CA16044048C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4663G>A (p.Glu1555Lys)57724EPG5Uncertain significancers780030419RCV001053660|RCV001759792; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184347951543479515CT18:g.43479515C>T-
NM_020964.3(EPG5):c.4654G>A (p.Ala1552Thr)57724EPG5Uncertain significancers372801548RCV001313005; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347952443479524CT43479524-
NM_020964.3(EPG5):c.4650C>T (p.Thr1550=)57724EPG5Likely benign-1RCV002173473; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184347952843479528GA43479528-
NM_020964.3(EPG5):c.4646+35T>C57724EPG5Benign-1RCV001661286|RCV001685552; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184348092643480926AG43480926-
NM_020964.3(EPG5):c.4646+20C>T57724EPG5Benign-1RCV002219083; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348094143480941GA43480941-
NM_020964.3(EPG5):c.4629G>A (p.Leu1543=)57724EPG5Benignrs182255496RCV000966309; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348097843480978CT18:g.43480978C>T-
NM_020964.3(EPG5):c.4621C>T (p.Leu1541=)57724EPG5Likely benign-1RCV001490042; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348098643480986GA43480986-
NM_020964.3(EPG5):c.4614C>T (p.Cys1538=)57724EPG5Likely benign-1RCV002173565; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348099343480993GA43480993-
NM_020964.3(EPG5):c.4611G>A (p.Val1537=)57724EPG5Likely benign-1RCV001413550; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348099643480996CT43480996-
NM_020964.3(EPG5):c.4608G>A (p.Leu1536=)57724EPG5Likely benign-1RCV001434683; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348099943480999CT43480999-
NM_020964.3(EPG5):c.4605G>C (p.Gln1535His)57724EPG5Uncertain significance-1RCV001960818; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348100243481002CG43481002-
NM_020964.3(EPG5):c.4601C>T (p.Thr1534Ile)57724EPG5Uncertain significancers1599529163RCV000815993; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348100643481006GA18:g.43481006G>A-
NM_020964.3(EPG5):c.4597_4599del (p.Ala1533del)57724EPG5Uncertain significance-1RCV001866454; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348100843481010TGGCT43481007-
NM_020964.3(EPG5):c.4597G>A (p.Ala1533Thr)57724EPG5Uncertain significancers374899586RCV001245185; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348101043481010CT18:g.43481010C>T-
NM_020964.3(EPG5):c.4596C>T (p.Asp1532=)57724EPG5Likely benign-1RCV002113519; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348101143481011GA43481011-
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter)57724EPG5Pathogenicrs587776939RCV000033114; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348101943481019GA18:g.43481019G>AClinGen:CA214396,OMIM:615068.0001C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe)57724EPG5Benignrs199978382RCV000970495; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348102343481023CG18:g.43481023C>G-
NM_020964.3(EPG5):c.4581A>G (p.Leu1527=)57724EPG5Likely benignrs200617597RCV000970551; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348102643481026TC18:g.43481026T>C-
NM_020964.3(EPG5):c.4569C>T (p.Ser1523=)57724EPG5Likely benign-1RCV001492110; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348103843481038GA43481038-
NM_020964.3(EPG5):c.4560A>G (p.Pro1520=)57724EPG5Likely benign-1RCV001400024; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348104743481047TC43481047-
NM_020964.3(EPG5):c.4559C>T (p.Pro1520Leu)57724EPG5Uncertain significancers375867560RCV000539895; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348104843481048GA18:g.43481048G>AClinGen:CA8948819C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4549C>T (p.Pro1517Ser)57724EPG5Uncertain significancers369136227RCV000823020; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348105843481058GA18:g.43481058G>A-
NM_020964.3(EPG5):c.4544C>T (p.Thr1515Met)57724EPG5Likely benignrs199811412RCV000642230|RCV001545366; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184348106343481063GA18:g.43481063G>AClinGen:CA8948825C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu)57724EPG5Benignrs139209033RCV000642225; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348106643481066GA18:g.43481066G>AClinGen:CA8948827C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4532C>T (p.Ala1511Val)57724EPG5Benignrs1893523RCV001523279|RCV000832779; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184348107543481075GA18:g.43481075G>A-
NM_020964.3(EPG5):c.4522C>T (p.Pro1508Ser)57724EPG5Uncertain significancers199718702RCV000808239; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348108543481085GA18:g.43481085G>A-
NM_020964.3(EPG5):c.4521G>C (p.Gln1507His)57724EPG5Uncertain significance-1RCV001937518; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348108643481086CG43481086-
NM_020964.3(EPG5):c.4517C>T (p.Pro1506Leu)57724EPG5Uncertain significance-1RCV001949886; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348109043481090GA43481090-
NM_020964.3(EPG5):c.4513G>A (p.Ala1505Thr)57724EPG5Uncertain significance-1RCV001370053; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348109443481094CT43481094-
NM_020964.3(EPG5):c.4502G>A (p.Arg1501Gln)57724EPG5Likely benignrs186784974RCV000532446; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348110543481105CTNC_000018.9:g.43481105C>TClinGen:CA8948837C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4501C>T (p.Arg1501Trp)57724EPG5Uncertain significancers370776793RCV001350289; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348110643481106GA43481106-
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met)57724EPG5Uncertain significancers201986809RCV001297147; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348110943481109AT43481109-
NM_020964.3(EPG5):c.4496A>C (p.Asn1499Thr)57724EPG5Uncertain significance-1RCV001897941; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348111143481111TG43481111-
NM_020964.3(EPG5):c.4475-20A>G57724EPG5Likely benign-1RCV002101484; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348115243481152TC43481152-
NM_020964.3(EPG5):c.4474+19T>A57724EPG5Likely benign-1RCV002096937; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348391943483919AT43483919-
NM_020964.3(EPG5):c.4474+15C>T57724EPG5Likely benign-1RCV002189721; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348392343483923GA43483923-
NM_020964.3(EPG5):c.4474+12dup57724EPG5Likely benign-1RCV002180205; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348392543483926TTC43483925-
NM_020964.3(EPG5):c.4444G>A (p.Val1482Met)57724EPG5Uncertain significancers746749336RCV000424961|RCV001297768; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348396843483968CT18:g.43483968C>TClinGen:CA8948868CN517202 not provided;
NM_020964.3(EPG5):c.4431C>G (p.Pro1477=)57724EPG5Likely benign-1RCV001473269; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348398143483981GC43483981-
NM_020964.3(EPG5):c.4429C>T (p.Pro1477Ser)57724EPG5Uncertain significance-1RCV001944487; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348398343483983GA43483983-
NM_020964.3(EPG5):c.4429C>G (p.Pro1477Ala)57724EPG5Uncertain significance-1RCV001910615; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348398343483983GC43483983-
NM_020964.3(EPG5):c.4413T>C (p.Leu1471=)57724EPG5Likely benignrs774537425RCV000904170|RCV002065715; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348399943483999AG18:g.43483999A>G-
NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs)57724EPG5Likely pathogenicrs1599536432RCV000991406; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348402443484025AACA18:g.43484024_43484025del-
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys)57724EPG5Uncertain significancers761064074RCV001027783; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348404543484045TC18:g.43484045T>C-
NM_020964.3(EPG5):c.4361G>T (p.Arg1454Leu)57724EPG5Uncertain significance-1RCV001867315; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348405143484051CA43484051-
NM_020964.3(EPG5):c.4360C>T (p.Arg1454Cys)57724EPG5Uncertain significance-1RCV002012079; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348405243484052GA43484052-
NM_020964.3(EPG5):c.4356G>A (p.Met1452Ile)57724EPG5Uncertain significance-1RCV002013085; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348405643484056CT43484056-
NM_020964.3(EPG5):c.4354A>G (p.Met1452Val)57724EPG5Uncertain significance-1RCV002022798; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348405843484058TC43484058-
NM_020964.3(EPG5):c.4330-12G>A57724EPG5Likely benign-1RCV002159576; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348409443484094CT43484094-
NM_020964.3(EPG5):c.4329+20T>G57724EPG5Likely benign-1RCV002115044; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348790343487903AC43487903-
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter)57724EPG5Pathogenicrs374321183RCV001089500; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348792543487925GA18:g.43487925G>A-
NM_020964.3(EPG5):c.4312G>A (p.Val1438Met)57724EPG5Uncertain significance-1RCV002032269; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348794043487940CT43487940-
NM_020964.3(EPG5):c.4286del (p.His1429fs)57724EPG5Pathogenicrs1568142333RCV000704113; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348796643487966ATA18:g.43487966_43487966del-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4286A>T (p.His1429Leu)57724EPG5Uncertain significance-1RCV001947145; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348796643487966TA43487966-
NM_020964.3(EPG5):c.4269C>T (p.Ile1423=)57724EPG5Likely benignrs765537954RCV000976899|RCV001456940; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348798343487983GA18:g.43487983G>A-
NM_020964.3(EPG5):c.4265A>G (p.Tyr1422Cys)57724EPG5Uncertain significance-1RCV001927711; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348798743487987TC43487987-
NM_020964.3(EPG5):c.4261A>G (p.Thr1421Ala)57724EPG5Uncertain significancers1231659675RCV001061329; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348799143487991TC18:g.43487991T>C-
NM_020964.3(EPG5):c.4258G>A (p.Asp1420Asn)57724EPG5Uncertain significancers377196959RCV001212031; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348799443487994CT18:g.43487994C>T-
NM_020964.3(EPG5):c.4250A>C (p.Gln1417Pro)57724EPG5Uncertain significancers2049798752RCV001041625; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348800243488002TG18:g.43488002T>G-
NM_020964.3(EPG5):c.4231C>A (p.Leu1411Ile)57724EPG5Uncertain significancers1406862002RCV000822294; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348802143488021GT18:g.43488021G>T-
NM_020964.3(EPG5):c.4222A>G (p.Ile1408Val)57724EPG5Uncertain significance-1RCV001876408; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348803043488030TC43488030-
NM_020964.3(EPG5):c.4218A>G (p.Val1406=)57724EPG5Likely benignrs1599546418RCV000943462|RCV001418456; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348803443488034TC18:g.43488034T>C-
NM_020964.3(EPG5):c.4206-15G>A57724EPG5Likely benign-1RCV002119204; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348806143488061CT43488061-
NM_020964.3(EPG5):c.4206-16T>C57724EPG5Likely benign-1RCV002093359; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184348806243488062AG43488062-
NM_020964.3(EPG5):c.4205+11T>C57724EPG5Likely benign-1RCV002124495; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349047543490475AG43490475-
NM_020964.3(EPG5):c.4205+9G>A57724EPG5Likely benign-1RCV002133542; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349047743490477CT43490477-
NM_020964.3(EPG5):c.4205+7A>T57724EPG5Likely benign-1RCV001487122; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349047943490479TA43490479-
NM_020964.3(EPG5):c.4205+4A>T57724EPG5Uncertain significance-1RCV001910287; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349048243490482TA43490482-
NM_020964.3(EPG5):c.4205G>A (p.Arg1402Lys)57724EPG5Uncertain significancers749547713RCV000805104; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349048643490486CT18:g.43490486C>T-
NM_020964.3(EPG5):c.4195_4196delinsTT (p.Glu1399Leu)57724EPG5Uncertain significance-1RCV001967210; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349049543490496TCAA43490495-
NM_020964.3(EPG5):c.4169A>G (p.Tyr1390Cys)57724EPG5Uncertain significancers551488784RCV000210583|RCV001060641; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349052243490522TC18:g.43490522T>CClinGen:CA358038C0950123 Inborn genetic diseases;
NM_020964.3(EPG5):c.4164_4165delinsAT (p.Gly1389Cys)57724EPG5Uncertain significancers2049867986RCV001041888; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349052643490527CAATNC_000018.9:g.43490526_43490527delinsAT-
NM_020964.3(EPG5):c.4163C>T (p.Pro1388Leu)57724EPG5Uncertain significancers543543733RCV000642209; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349052843490528GANC_000018.9:g.43490528G>AClinGen:CA8948970C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4155T>C (p.Ser1385=)57724EPG5Likely benign-1RCV001428371; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349053643490536AG43490536-
NM_020964.3(EPG5):c.4154C>G (p.Ser1385Cys)57724EPG5Uncertain significancers200040634RCV001219647; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349053743490537GC18:g.43490537G>C-
NM_020964.3(EPG5):c.4152C>G (p.His1384Gln)57724EPG5Uncertain significancers200079588RCV000691520; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349053943490539GC18:g.43490539G>C-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4136G>T (p.Gly1379Val)57724EPG5Uncertain significance-1RCV001359749; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349055543490555CA43490555-
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=)57724EPG5Benignrs200489622RCV000890462|RCV001702745; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184349055743490557TC18:g.43490557T>C-
NM_020964.3(EPG5):c.4112G>A (p.Arg1371His)57724EPG5Uncertain significance-1RCV001896429; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349057943490579CT43490579-
NM_020964.3(EPG5):c.4111C>T (p.Arg1371Cys)57724EPG5Uncertain significance-1RCV001940450; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349058043490580GA43490580-
NM_020964.3(EPG5):c.4108C>T (p.Leu1370Phe)57724EPG5Uncertain significancers2049869676RCV001332377; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349058343490583GA43490583-
NM_020964.3(EPG5):c.4094C>G (p.Ala1365Gly)57724EPG5Uncertain significance-1RCV001987005; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349059743490597GC43490597-
NM_020964.3(EPG5):c.4089C>T (p.His1363=)57724EPG5Benignrs3744996RCV000839799|RCV001512742; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349060243490602GA18:g.43490602G>A-
NM_020964.3(EPG5):c.4083C>G (p.Asp1361Glu)57724EPG5Uncertain significance-1RCV001886286; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349060843490608GC43490608-
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys)57724EPG5Uncertain significancers775481546RCV000202824|RCV001239656; NMedGen:CN169374|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349061943490619CT18:g.43490619C>TClinGen:CA249026CN169374 not specified;
NM_020964.3(EPG5):c.4062A>G (p.Arg1354=)57724EPG5Likely benignrs756098385RCV000911589; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349062943490629TC18:g.43490629T>C-
NM_020964.3(EPG5):c.4047G>T (p.Leu1349Phe)57724EPG5Uncertain significance-1RCV002025497; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349064443490644CA43490644-
NM_020964.3(EPG5):c.4040A>G (p.Asn1347Ser)57724EPG5Uncertain significancers371508723RCV001207659; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349065143490651TC18:g.43490651T>C-
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)57724EPG5Conflicting interpretations of pathogenicityrs144860976RCV000210627|RCV000442384|RCV001082743|RCV001573112; NMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN169374184349065243490652TG18:g.43490652T>GClinGen:CA358108C0950123 Inborn genetic diseases;
NM_020964.3(EPG5):c.4037T>C (p.Ile1346Thr)57724EPG5Uncertain significancers201968905RCV001069881; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349065443490654AG18:g.43490654A>G-
NM_020964.3(EPG5):c.4037T>A (p.Ile1346Asn)57724EPG5Uncertain significance-1RCV001989475; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349065443490654AT43490654-
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg)57724EPG5Uncertain significancers200456950RCV000799289; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349065743490657TC18:g.43490657T>C-
NM_020964.3(EPG5):c.4023A>G (p.Gln1341=)57724EPG5Likely benign-1RCV002213271; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349066843490668TC43490668-
NM_020964.3(EPG5):c.4020dup (p.Gln1341fs)57724EPG5Pathogenic-1RCV002007552; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349067043490671GGA43490670-
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu)57724EPG5Uncertain significancers1085308061RCV000490629; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349068443490684CT18:g.43490684C>TClinGen:CA402340281,OMIM:615068.0007C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.4001G>C (p.Cys1334Ser)57724EPG5Uncertain significancers938393640RCV001061193; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349069043490690CG18:g.43490690C>G-
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val)57724EPG5Uncertain significancers775284965RCV000426995|RCV001851027; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349070043490700TC18:g.43490700T>CClinGen:CA8949003CN517202 not provided;
NM_020964.3(EPG5):c.3984-9dup57724EPG5Benign-1RCV001520510; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349071043490711TTA43490710-
NM_020964.3(EPG5):c.3984-10G>T57724EPG5Likely benign-1RCV001476475; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349071743490717CA43490717-
NM_020964.3(EPG5):c.3984-12G>C57724EPG5Likely benign-1RCV002145267; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349071943490719CG43490719-
NM_020964.3(EPG5):c.3984-20C>G57724EPG5Benign-1RCV002136902; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349072743490727GC43490727-
NM_020964.3(EPG5):c.3969G>A (p.Pro1323=)57724EPG5Uncertain significancers373218143RCV001223133; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349226943492269CT18:g.43492269C>T-
NM_020964.3(EPG5):c.3968C>T (p.Pro1323Leu)57724EPG5Uncertain significance-1RCV001987539; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349227043492270GA43492270-
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)57724EPG5Conflicting interpretations of pathogenicityrs148641800RCV000539107|RCV001572756; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184349227343492273CTNC_000018.9:g.43492273C>TClinGen:CA8949023C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3964C>T (p.Arg1322Cys)57724EPG5Uncertain significance-1RCV001887454; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349227443492274GA43492274-
NM_020964.3(EPG5):c.3942G>A (p.Lys1314=)57724EPG5Likely benign-1RCV002168672; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349229643492296CT43492296-
NM_020964.3(EPG5):c.3938A>G (p.Gln1313Arg)57724EPG5Uncertain significancers2049924645RCV001045062; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349230043492300TC18:g.43492300T>C-
NM_020964.3(EPG5):c.3931A>G (p.Ile1311Val)57724EPG5Uncertain significancers1000037657RCV001217594; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349230743492307TC18:g.43492307T>C-
NM_020964.3(EPG5):c.3930C>T (p.Leu1310=)57724EPG5Likely benign-1RCV002212380; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349230843492308GA43492308-
NM_020964.3(EPG5):c.3898G>A (p.Val1300Ile)57724EPG5Uncertain significancers201495638RCV001220037; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349234043492340CT18:g.43492340C>T-
NM_020964.3(EPG5):c.3878G>A (p.Arg1293His)57724EPG5Uncertain significancers781740724RCV001234669; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349236043492360CT18:g.43492360C>T-
NM_020964.3(EPG5):c.3854C>T (p.Ser1285Phe)57724EPG5Uncertain significance-1RCV001940059; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349238443492384GA43492384-
NM_020964.3(EPG5):c.3852A>G (p.Pro1284=)57724EPG5Likely benign-1RCV002127074; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349238643492386TC43492386-
NM_020964.3(EPG5):c.3847G>A (p.Val1283Met)57724EPG5Uncertain significance-1RCV001893859; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349239143492391CT43492391-
NM_020964.3(EPG5):c.3846C>A (p.Ile1282=)57724EPG5Likely benign-1RCV002130006; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349239243492392GT43492392-
NM_020964.3(EPG5):c.3846C>T (p.Ile1282=)57724EPG5Likely benign-1RCV002111578; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349239243492392GA43492392-
NM_020964.3(EPG5):c.3828C>T (p.Thr1276=)57724EPG5Likely benign-1RCV002110092; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349241043492410GA43492410-
NM_020964.3(EPG5):c.3827C>T (p.Thr1276Ile)57724EPG5Uncertain significancers2049927667RCV001348106; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349241143492411GA43492411-
NM_020964.3(EPG5):c.3822C>G (p.Ala1274=)57724EPG5Likely benign-1RCV002178009; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349241643492416GC43492416-
NM_020964.3(EPG5):c.3816+17T>A57724EPG5Likely benign-1RCV002168700; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349365443493654AT43493654-
NM_020964.3(EPG5):c.3816+4_3816+5dup57724EPG5Uncertain significancers2049964277RCV001304576; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349366543493666TTTG43493665-
NM_020964.3(EPG5):c.3808G>A (p.Ala1270Thr)57724EPG5Uncertain significance-1RCV001938920; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349367943493679CT43493679-
NM_020964.3(EPG5):c.3807A>G (p.Gln1269=)57724EPG5Uncertain significancers897520700RCV001320535; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349368043493680TC43493680-
NM_020964.3(EPG5):c.3799C>G (p.Pro1267Ala)57724EPG5Uncertain significancers2049964767RCV001338488; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349368843493688GC43493688-
NM_020964.3(EPG5):c.3791C>T (p.Ala1264Val)57724EPG5Uncertain significancers374324769RCV001232164; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349369643493696GA18:g.43493696G>A-
NM_020964.3(EPG5):c.3762_3789dup (p.Ala1264delinsTyrTer)57724EPG5Pathogenicrs1555673890RCV000526506; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349369743493698CCAGAGTTTATCACCAATTCCCCTTCAATA18:g.43493697_43493698insAGAGTTTATCACCAATTCCCCTTCAATAClinGen:CA629481196C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3767A>G (p.Glu1256Gly)57724EPG5Uncertain significancers766928627RCV001323860; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349372043493720TC43493720-
NM_020964.3(EPG5):c.3755G>A (p.Arg1252Gln)57724EPG5Uncertain significance-1RCV002046256; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349373243493732CT43493732-
NM_020964.3(EPG5):c.3754C>T (p.Arg1252Trp)57724EPG5Uncertain significancers78690150RCV000810153; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349373343493733GA18:g.43493733G>A-
NM_020964.3(EPG5):c.3752T>C (p.Leu1251Pro)57724EPG5Uncertain significancers1568149047RCV000761479; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349373543493735AGNC_000018.9:g.43493735A>G-
NM_020964.3(EPG5):c.3721A>G (p.Met1241Val)57724EPG5Uncertain significancers1258237376RCV001051186; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349376643493766TC18:g.43493766T>C-
NM_020964.3(EPG5):c.3720C>A (p.Asn1240Lys)57724EPG5Uncertain significance-1RCV001948496; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349376743493767GT43493767-
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter)57724EPG5Pathogenicrs1555673917RCV000605098; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349378943493789CT18:g.43493789C>TClinGen:CA402341377C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3696C>T (p.Val1232=)57724EPG5Likely benign-1RCV002088067; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349379143493791GA43493791-
NM_020964.3(EPG5):c.3693+18_3693+19del57724EPG5Likely benign-1RCV002155598; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349545743495458CCTC43495456-
NM_020964.3(EPG5):c.3693+2_3693+5del57724EPG5Likely pathogenic-1RCV002013755; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349547143495474TCCTAT43495470-
NM_020964.3(EPG5):c.3689C>A (p.Thr1230Asn)57724EPG5Uncertain significancers772294581RCV001202747; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349548043495480GT18:g.43495480G>T-
NM_020964.3(EPG5):c.3689C>T (p.Thr1230Ile)57724EPG5Uncertain significancers772294581RCV001236957; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349548043495480GA18:g.43495480G>A-
NM_020964.3(EPG5):c.3686C>A (p.Pro1229His)57724EPG5Uncertain significancers778094374RCV000239138|RCV001854925; NMedGen:CN169374|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349548343495483GT18:g.43495483G>TClinGen:CA8949105CN169374 not specified;
NM_020964.3(EPG5):c.3683C>T (p.Thr1228Met)57724EPG5Uncertain significancers556565796RCV000811795; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349548643495486GA18:g.43495486G>A-
NM_020964.3(EPG5):c.3652A>G (p.Ile1218Val)57724EPG5Uncertain significancers546759895RCV000794186; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349551743495517TC18:g.43495517T>C-
NM_020964.3(EPG5):c.3632G>A (p.Ser1211Asn)57724EPG5Uncertain significancers571987859RCV001041357; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349553743495537CT18:g.43495537C>T-
NM_020964.3(EPG5):c.3629T>C (p.Val1210Ala)57724EPG5Uncertain significancers2050011051RCV001230611; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349554043495540AG18:g.43495540A>G-
NM_020964.3(EPG5):c.3618C>G (p.Leu1206=)57724EPG5Likely benign-1RCV001482103; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349555143495551GC43495551-
NM_020964.3(EPG5):c.3614del (p.Leu1205fs)57724EPG5Pathogenicrs1568150793RCV000691082; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349555543495555CAC18:g.43495555_43495555del-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3608G>A (p.Arg1203Gln)57724EPG5Likely benignrs200186919RCV000983836; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349556143495561CT18:g.43495561C>T-
NM_020964.3(EPG5):c.3607C>T (p.Arg1203Trp)57724EPG5Uncertain significance-1RCV001905295; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349556243495562GA43495562-
NM_020964.3(EPG5):c.3598C>T (p.His1200Tyr)57724EPG5Uncertain significance-1RCV001989865; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349557143495571GA43495571-
NM_020964.3(EPG5):c.3585T>C (p.Asn1195=)57724EPG5Likely benign-1RCV001408517; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349558443495584AG43495584-
NM_020964.3(EPG5):c.3583-7G>C57724EPG5Likely benign-1RCV001451836; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349559343495593CG43495593-
NM_020964.3(EPG5):c.3583-8C>T57724EPG5Likely benign-1RCV002192962; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349559443495594GA43495594-
NM_020964.3(EPG5):c.3582+12G>C57724EPG5Benign-1RCV002129591; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349596243495962CG43495962-
NM_020964.3(EPG5):c.3582+3A>G57724EPG5Uncertain significancers1210376180RCV000817097; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349597143495971TC18:g.43495971T>C-
NM_020964.3(EPG5):c.3567C>T (p.Leu1189=)57724EPG5Likely benign-1RCV001395049; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349598943495989GA43495989-
NM_020964.3(EPG5):c.3565C>G (p.Leu1189Val)57724EPG5Uncertain significance-1RCV001893094; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349599143495991GC43495991-
NM_020964.3(EPG5):c.3512A>G (p.His1171Arg)57724EPG5Uncertain significance-1RCV002013380; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349604443496044TC43496044-
NM_020964.3(EPG5):c.3511C>G (p.His1171Asp)57724EPG5Uncertain significance-1RCV001947258; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349604543496045GC43496045-
NM_020964.3(EPG5):c.3498C>G (p.Leu1166=)57724EPG5Likely benignrs771587084RCV000642235; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349605843496058GCNC_000018.9:g.43496058G>CClinGen:CA8949151C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val)57724EPG5Uncertain significancers772777352RCV000768201; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349606043496060GCNC_000018.9:g.43496060G>C-
NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val)57724EPG5Benignrs61744077RCV000642224; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349606343496063TC18:g.43496063T>CClinGen:CA8949154C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3487C>A (p.Gln1163Lys)57724EPG5Uncertain significance-1RCV001968792; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349606943496069GT43496069-
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter)57724EPG5Pathogenicrs587776940RCV000033116; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349607543496075GA18:g.43496075G>AClinGen:CA214398,OMIM:615068.0003C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3477G>A (p.Trp1159Ter)57724EPG5Likely pathogenic-1RCV001781042; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349607943496079CT43496079-
NM_020964.3(EPG5):c.3472C>T (p.Leu1158Phe)57724EPG5Uncertain significance-1RCV001896884; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349608443496084GA43496084-
NM_020964.3(EPG5):c.3441G>A (p.Glu1147=)57724EPG5Likely benign-1RCV002084843; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349611543496115CT43496115-
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=)57724EPG5Benignrs9965714RCV000642228; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349612043496120AGNC_000018.9:g.43496120A>GClinGen:CA8949165C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3435G>A (p.Val1145=)57724EPG5Likely benign-1RCV002178734; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349612143496121CT43496121-
NM_020964.3(EPG5):c.3427G>A (p.Val1143Ile)57724EPG5Uncertain significancers771510931RCV000793820; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349612943496129CT18:g.43496129C>T-
NM_020964.3(EPG5):c.3426C>T (p.Pro1142=)57724EPG5Likely benign-1RCV002128570; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349613043496130GA43496130-
NM_020964.3(EPG5):c.3422G>A (p.Gly1141Asp)57724EPG5Uncertain significance-1RCV001993661; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349613443496134CT43496134-
NM_020964.3(EPG5):c.3410C>T (p.Pro1137Leu)57724EPG5Uncertain significancers2050027099RCV001318812; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349614643496146GA43496146-
NM_020964.3(EPG5):c.3397G>C (p.Val1133Leu)57724EPG5Uncertain significance-1RCV001369188; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349615943496159CG43496159-
NM_020964.3(EPG5):c.3391A>G (p.Ile1131Val)57724EPG5Benignrs3744997RCV000550947; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349616543496165TCNC_000018.9:g.43496165T>CClinGen:CA8949179C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3385-4A>T57724EPG5Likely benignrs150567949RCV000972538; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349617543496175TA18:g.43496175T>A-
NM_020964.3(EPG5):c.3385-18T>C57724EPG5Likely benign-1RCV002103113; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349618943496189AG43496189-
NM_020964.3(EPG5):c.3385-20C>T57724EPG5Benign-1RCV001513181|RCV001673085; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184349619143496191GA43496191-
NM_020964.3(EPG5):c.3384+17C>T57724EPG5Likely benign-1RCV002218292; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349638643496386GA43496386-
NM_020964.3(EPG5):c.3384+3G>A57724EPG5Uncertain significance-1RCV002028276; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349640043496400CT43496400-
NM_020964.3(EPG5):c.3384G>A (p.Gln1128=)57724EPG5Uncertain significancers2050035169RCV001035758; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349640343496403CT18:g.43496403C>T-
NM_020964.3(EPG5):c.3351G>A (p.Gly1117=)57724EPG5Likely benign-1RCV002131229; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349643643496436CT43496436-
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro)57724EPG5Uncertain significancers2050036468RCV001332376; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349645543496455AG43496455-
NM_020964.3(EPG5):c.3313C>T (p.His1105Tyr)57724EPG5Likely benignrs200305944RCV000884860|RCV001567061; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184349647443496474GA18:g.43496474G>A-
NM_020964.3(EPG5):c.3307G>T (p.Val1103Phe)57724EPG5Uncertain significance-1RCV001897060; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349648043496480CA43496480-
NM_020964.3(EPG5):c.3303A>G (p.Gln1101=)57724EPG5Likely benignrs201545867RCV000940582|RCV001410457; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349648443496484TC18:g.43496484T>C-
NM_020964.3(EPG5):c.3303A>C (p.Gln1101His)57724EPG5Uncertain significancers201545867RCV001306973|RCV001796433; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184349648443496484TG43496484-
NM_020964.3(EPG5):c.3292G>A (p.Gly1098Ser)57724EPG5Uncertain significancers1599566046RCV000807703; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349649543496495CT18:g.43496495C>T-
NM_020964.3(EPG5):c.3289C>G (p.Gln1097Glu)57724EPG5Uncertain significance-1RCV001983681; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349649843496498GC43496498-
NM_020964.3(EPG5):c.3286C>T (p.Pro1096Ser)57724EPG5Uncertain significancers199524137RCV001343130; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349650143496501GA43496501-
NM_020964.3(EPG5):c.3280G>A (p.Gly1094Ser)57724EPG5Uncertain significancers200966889RCV001217161; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349650743496507CT18:g.43496507C>T-
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=)57724EPG5Benign/Likely benignrs72918350RCV000538325|RCV001562451; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184349650843496508GANC_000018.9:g.43496508G>AClinGen:CA8949213C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3276C>T (p.Asp1092=)57724EPG5Likely benign-1RCV002220382; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349651143496511GA43496511-
NM_020964.3(EPG5):c.3270C>A (p.His1090Gln)57724EPG5Uncertain significancers2050038241RCV001061896; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349651743496517GT18:g.43496517G>T-
NM_020964.3(EPG5):c.3261G>A (p.Leu1087=)57724EPG5Likely benignrs1599566104RCV000939388|RCV001424324; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349652643496526CT18:g.43496526C>T-
NM_020964.3(EPG5):c.3258C>T (p.Leu1086=)57724EPG5Likely benign-1RCV002108070; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349652943496529GA43496529-
NM_020964.3(EPG5):c.3249G>A (p.Ser1083=)57724EPG5Likely benign-1RCV002108577; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349653843496538CT43496538-
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu)57724EPG5Benignrs78339727RCV000525752|RCV001702506|RCV001722484; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN169374|MedGen:CN517202184349653943496539GANC_000018.9:g.43496539G>AClinGen:CA8949218C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3240-16C>T57724EPG5Likely benign-1RCV002170756; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349656343496563GA43496563-
NM_020964.3(EPG5):c.3235G>A (p.Glu1079Lys)57724EPG5Likely benignrs199586840RCV000983829; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349764843497648CT18:g.43497648C>T-
NM_020964.3(EPG5):c.3220T>C (p.Tyr1074His)57724EPG5Uncertain significance-1RCV001971861; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349766343497663AG43497663-
NM_020964.3(EPG5):c.3206A>G (p.Tyr1069Cys)57724EPG5Uncertain significancers2050064434RCV001090123; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349767743497677TC18:g.43497677T>C-
NM_020964.3(EPG5):c.3201A>G (p.Leu1067=)57724EPG5Likely benign-1RCV002099863; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349768243497682TC43497682-
NM_020964.3(EPG5):c.3176A>G (p.His1059Arg)57724EPG5Uncertain significance-1RCV001927748; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349770743497707TC43497707-
NM_020964.3(EPG5):c.3175C>T (p.His1059Tyr)57724EPG5Uncertain significancers200633997RCV001205383; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349770843497708GA18:g.43497708G>A-
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala)57724EPG5Benignrs3744998RCV000454737|RCV000990094|RCV000839780; NMedGen:CN169374|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184349771043497710AGNC_000018.9:g.43497710A>GClinGen:CA8949248CN169374 not specified;
NM_020964.3(EPG5):c.3171G>T (p.Val1057=)57724EPG5Likely benign-1RCV001394673; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349771243497712CA43497712-
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile)57724EPG5Uncertain significancers144908324RCV000819735; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349771643497716GA18:g.43497716G>A-
NM_020964.3(EPG5):c.3145G>T (p.Val1049Phe)57724EPG5Uncertain significance-1RCV001362419; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349773843497738CA43497738-
NM_020964.3(EPG5):c.3129A>G (p.Pro1043=)57724EPG5Likely benign-1RCV001495056; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349775443497754TC43497754-
NM_020964.3(EPG5):c.3114T>C (p.Cys1038=)57724EPG5Likely benign-1RCV001425453; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349776943497769AG43497769-
NM_020964.3(EPG5):c.3113G>A (p.Cys1038Tyr)57724EPG5Uncertain significancers2050066834RCV001048398; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184349777043497770CT18:g.43497770C>T-
NC_000018.9:g.(?_43502287)_(43505888_?)del57724EPG5Pathogenic-1RCV001982873; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350228743505888nana-1-
NM_020964.3(EPG5):c.3098+2T>C57724EPG5Likely pathogenic-1RCV002009078; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350230543502305AG43502305-
NM_020964.3(EPG5):c.3093C>T (p.Gly1031=)57724EPG5Likely benign-1RCV002209181; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350231243502312GA43502312-
NM_020964.3(EPG5):c.3083C>G (p.Thr1028Arg)57724EPG5Uncertain significancers2050174462RCV001246250; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350232243502322GC18:g.43502322G>C-
NM_020964.3(EPG5):c.3079A>G (p.Met1027Val)57724EPG5Likely benignrs200114829RCV000642223|RCV001570192; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184350232643502326TC18:g.43502326T>CClinGen:CA8949275C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3055A>G (p.Ile1019Val)57724EPG5Uncertain significancers373402310RCV001222154; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350235043502350TC18:g.43502350T>C-
NM_020964.3(EPG5):c.3048C>T (p.Gly1016=)57724EPG5Uncertain significance-1RCV001929010; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350235743502357GA43502357-
NM_020964.3(EPG5):c.3047G>A (p.Gly1016Asp)57724EPG5Uncertain significancers946420837RCV001228812; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350235843502358CT18:g.43502358C>T-
NM_020964.3(EPG5):c.3045G>C (p.Ala1015=)57724EPG5Likely benignrs772585558RCV000642234|RCV001413095; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350236043502360CG18:g.43502360C>GClinGen:CA299768040C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.3045G>A (p.Ala1015=)57724EPG5Likely benign-1RCV002154325; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350236043502360CT43502360-
NM_020964.3(EPG5):c.3034G>A (p.Ala1012Thr)57724EPG5Uncertain significancers773390222RCV001062912; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350237143502371CT18:g.43502371C>T-
NM_020964.3(EPG5):c.3020A>T (p.His1007Leu)57724EPG5Uncertain significance-1RCV002021649; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350238543502385TA43502385-
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met)57724EPG5Uncertain significancers890699630RCV000805037; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350239143502391GA18:g.43502391G>A-
NM_020964.3(EPG5):c.3002C>T (p.Thr1001Ile)57724EPG5Uncertain significancers369506924RCV001060949; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350240343502403GA18:g.43502403G>A-
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)57724EPG5Conflicting interpretations of pathogenicityrs144334723RCV000642220|RCV000731491|RCV001572064; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN169374|MedGen:CN517202184350240743502407TC18:g.43502407T>CClinGen:CA8949288C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2983G>A (p.Val995Ile)57724EPG5Uncertain significancers377499566RCV001065434; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350242243502422CT18:g.43502422C>T-
NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe)57724EPG5Uncertain significancers2050179430RCV001281010; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350242443502424GA18:g.43502424G>A-
NM_020964.3(EPG5):c.2964T>C (p.Cys988=)57724EPG5Likely benignrs202213194RCV000972186; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350244143502441AG18:g.43502441A>G-
NM_020964.3(EPG5):c.2960A>G (p.Asn987Ser)57724EPG5Uncertain significance-1RCV001940978; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350244543502445TC43502445-
NM_020964.3(EPG5):c.2958G>A (p.Pro986=)57724EPG5Likely benign-1RCV002107063; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350244743502447CT43502447-
NM_020964.3(EPG5):c.2957C>T (p.Pro986Leu)57724EPG5Uncertain significance-1RCV001883020; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350244843502448GA43502448-
NM_020964.3(EPG5):c.2956C>G (p.Pro986Ala)57724EPG5Uncertain significancers755139046RCV000549652; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350244943502449GCNC_000018.9:g.43502449G>CClinGen:CA8949296C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2954A>G (p.Gln985Arg)57724EPG5Uncertain significance-1RCV001893910; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350245143502451TC43502451-
NM_020964.3(EPG5):c.2940C>T (p.Asn980=)57724EPG5Likely benignrs753235376RCV000892570|RCV002065586; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350246543502465GA18:g.43502465G>A-
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val)57724EPG5Benign/Likely benignrs148777356RCV000829590|RCV001080650; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350249443502494ACNC_000018.9:g.43502494A>CClinGen:CA8949304C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2898A>G (p.Gln966=)57724EPG5Uncertain significance-1RCV001907137; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350250743502507TC43502507-
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys)57724EPG5Uncertain significancers200744548RCV001299608; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350252443502524CT43502524-
NM_020964.3(EPG5):c.2880C>T (p.Pro960=)57724EPG5Likely benign-1RCV001451633; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350252543502525GA43502525-
NM_020964.3(EPG5):c.2868T>C (p.Tyr956=)57724EPG5Likely benign-1RCV001470810; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350253743502537AG43502537-
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter)57724EPG5Pathogenic-1RCV001783200; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350254243502542GA43502542-
NM_020964.3(EPG5):c.2857A>G (p.Ile953Val)57724EPG5Uncertain significance-1RCV001933079; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350254843502548TC43502548-
NM_020964.3(EPG5):c.2846A>T (p.Tyr949Phe)57724EPG5Uncertain significancers2050184005RCV001044781; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350255943502559TA18:g.43502559T>A-
NM_020964.3(EPG5):c.2845T>C (p.Tyr949His)57724EPG5Uncertain significancers750349437RCV000819339; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350256043502560AG18:g.43502560A>G-
NC_000018.9:g.(?_43503214)_(43505888_?)del57724EPG5Uncertain significance-1RCV001934387; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350321443505888nana-1-
NM_020964.3(EPG5):c.2838+19A>T57724EPG5Likely benign-1RCV002218554; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350321543503215TA43503215-
NM_020964.3(EPG5):c.2812G>A (p.Gly938Arg)57724EPG5Uncertain significancers773907627RCV000819016; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350326043503260CT18:g.43503260C>T-
NM_020964.3(EPG5):c.2803C>G (p.Pro935Ala)57724EPG5Uncertain significance-1RCV001892970; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350326943503269GC43503269-
NM_020964.3(EPG5):c.2776G>A (p.Ala926Thr)57724EPG5Uncertain significance-1RCV001362748; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350329643503296CT43503296-
NM_020964.3(EPG5):c.2763A>G (p.Leu921=)57724EPG5Likely benign-1RCV002154815; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350330943503309TC43503309-
NM_020964.3(EPG5):c.2761T>C (p.Leu921=)57724EPG5Likely benignrs376268597RCV000923791; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350331143503311AG18:g.43503311A>G-
NM_020964.3(EPG5):c.2758G>T (p.Ala920Ser)57724EPG5Uncertain significancers751746856RCV001317582; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350331443503314CA43503314-
NM_020964.3(EPG5):c.2745C>T (p.Val915=)57724EPG5Likely benign-1RCV002138051; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350332743503327GA43503327-
NM_020964.3(EPG5):c.2731C>G (p.Leu911Val)57724EPG5Uncertain significance-1RCV002041876; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350334143503341GC43503341-
NM_020964.3(EPG5):c.2723C>T (p.Thr908Ile)57724EPG5Uncertain significance-1RCV001874784; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350334943503349GA43503349-
NM_020964.3(EPG5):c.2719-11C>T57724EPG5Likely benign-1RCV002121992; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350336443503364GA43503364-
NM_020964.3(EPG5):c.2719-19T>A57724EPG5Likely benign-1RCV001439909; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350337243503372AT43503372-
NM_020964.3(EPG5):c.2719-20A>G57724EPG5Likely benign-1RCV002082461; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350337343503373TC43503373-
NM_020964.3(EPG5):c.2718+15C>A57724EPG5Likely benign-1RCV002119641; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350568943505689GT43505689-
NM_020964.3(EPG5):c.2718+3A>G57724EPG5Uncertain significancers374002995RCV000520041|RCV000687181; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350570143505701TC18:g.43505701T>CClinGen:CA8949358CN169374 not specified;
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter)57724EPG5Pathogenicrs756503608RCV001041165|RCV001574246; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184350570643505706GA18:g.43505706G>A-
NM_020964.3(EPG5):c.2710G>A (p.Ala904Thr)57724EPG5Uncertain significance-1RCV001943227; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350571243505712CT43505712-
NM_020964.3(EPG5):c.2702G>T (p.Trp901Leu)57724EPG5Uncertain significancers201315023RCV001061094; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350572043505720CA18:g.43505720C>A-
NM_020964.3(EPG5):c.2697G>A (p.Leu899=)57724EPG5Likely benignrs1599585460RCV000930512|RCV001457413; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350572543505725CT18:g.43505725C>T-
NM_020964.3(EPG5):c.2682T>C (p.Val894=)57724EPG5Likely benign-1RCV002116393; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350574043505740AG43505740-
NM_020964.3(EPG5):c.2679T>C (p.Cys893=)57724EPG5Likely benign-1RCV001406623; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350574343505743AG43505743-
NM_020964.3(EPG5):c.2672T>G (p.Leu891Arg)57724EPG5Uncertain significance-1RCV002031958; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350575043505750AC43505750-
NM_020964.3(EPG5):c.2662A>T (p.Lys888Ter)57724EPG5Pathogenic-1RCV001385017; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350576043505760TA43505760-
NM_020964.3(EPG5):c.2662A>G (p.Lys888Glu)57724EPG5Uncertain significance-1RCV001943585; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350576043505760TC43505760-
NM_020964.3(EPG5):c.2648A>G (p.Asn883Ser)57724EPG5Uncertain significancers767545552RCV001322480; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350577443505774TC43505774-
NM_020964.3(EPG5):c.2646C>T (p.Tyr882=)57724EPG5Likely benign-1RCV002215668; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350577643505776GA43505776-
NM_020964.3(EPG5):c.2629G>C (p.Asp877His)57724EPG5Uncertain significance-1RCV001883900; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350579343505793CG43505793-
NM_020964.3(EPG5):c.2626C>T (p.Arg876Trp)57724EPG5Uncertain significance-1RCV001892348; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350579643505796GA43505796-
NM_020964.3(EPG5):c.2618C>T (p.Ala873Val)57724EPG5Uncertain significancers201678945RCV000694394; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350580443505804GA18:g.43505804G>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2595G>T (p.Trp865Cys)57724EPG5Uncertain significance-1RCV001897142; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350582743505827CA43505827-
NM_020964.3(EPG5):c.2583T>C (p.Pro861=)57724EPG5Likely benign-1RCV001448340; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350583943505839AG43505839-
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter)57724EPG5Pathogenicrs587776941RCV000033117; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350584743505847CA18:g.43505847C>AClinGen:CA214400,OMIM:615068.0004C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2571T>C (p.Phe857=)57724EPG5Likely benign-1RCV002075546; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350585143505851AG43505851-
NM_020964.3(EPG5):c.2553+18G>A57724EPG5Likely benign-1RCV001423246; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350881743508817CT43508817-
NM_020964.3(EPG5):c.2532G>C (p.Glu844Asp)57724EPG5Benignrs3744999RCV000831713|RCV001522790; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350885643508856CG18:g.43508856C>G-
NM_020964.3(EPG5):c.2529A>G (p.Gln843=)57724EPG5Likely benign-1RCV002219592; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350885943508859TC43508859-
NM_020964.3(EPG5):c.2522G>C (p.Arg841Thr)57724EPG5Uncertain significance-1RCV001909778; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350886643508866CG43508866-
NM_020964.3(EPG5):c.2509G>A (p.Val837Ile)57724EPG5Uncertain significance-1RCV001978044; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350887943508879CT43508879-
NM_020964.3(EPG5):c.2508C>T (p.Ser836=)57724EPG5Likely benign-1RCV002099528; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350888043508880GA43508880-
NM_020964.3(EPG5):c.2494C>G (p.Pro832Ala)57724EPG5Uncertain significance-1RCV001909619; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350889443508894GC43508894-
NM_020964.3(EPG5):c.2450C>A (p.Ser817Ter)57724EPG5Pathogenic-1RCV001925821; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350893843508938GT43508938-
NM_020964.3(EPG5):c.2444C>T (p.Thr815Ile)57724EPG5Uncertain significancers2050338855RCV001225644; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350894443508944GA18:g.43508944G>A-
NM_020964.3(EPG5):c.2443A>T (p.Thr815Ser)57724EPG5Uncertain significancers944929737RCV000803415; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350894543508945TA18:g.43508945T>A-
NM_020964.3(EPG5):c.2430G>T (p.Leu810Phe)57724EPG5Uncertain significancers1192483869RCV001201744; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350895843508958CA18:g.43508958C>A-
NM_020964.3(EPG5):c.2427del (p.Leu810fs)57724EPG5Pathogenic-1RCV001921743; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350896143508961AGA43508960-
NM_020964.3(EPG5):c.2426C>T (p.Thr809Ile)57724EPG5Likely benignrs181383334RCV000923199|RCV001485190; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350896243508962GA18:g.43508962G>A-
NM_020964.3(EPG5):c.2424C>T (p.Val808=)57724EPG5Likely benign-1RCV002179947; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350896443508964GA43508964-
NM_020964.3(EPG5):c.2420A>C (p.Tyr807Ser)57724EPG5Uncertain significancers1436830345RCV000798307; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350896843508968TG18:g.43508968T>G-
NM_020964.3(EPG5):c.2413-9C>T57724EPG5Likely benign-1RCV001479890; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350898443508984GA43508984-
NM_020964.3(EPG5):c.2413-15del57724EPG5Benign-1RCV002115967; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350899043508990AGA43508989-
NM_020964.3(EPG5):c.2413-16C>T57724EPG5Likely benign-1RCV002158917; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350899143508991GA43508991-
NM_020964.3(EPG5):c.2413-16C>G57724EPG5Likely benign-1RCV002118939; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184350899143508991GC43508991-
NM_020964.3(EPG5):c.2407T>C (p.Tyr803His)57724EPG5Uncertain significancers762353654RCV000694125; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351064743510647AG18:g.43510647A>G-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2395G>T (p.Val799Phe)57724EPG5Uncertain significancers376598755RCV001070560; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351065943510659CA18:g.43510659C>A-
NM_020964.3(EPG5):c.2374G>A (p.Glu792Lys)57724EPG5Benign-1RCV001514887; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351068043510680CT43510680-
NM_020964.3(EPG5):c.2373C>T (p.Asp791=)57724EPG5Conflicting interpretations of pathogenicityrs552419530RCV000662043; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351068143510681GA18:g.43510681G>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2353dup (p.Ala785fs)57724EPG5Pathogenicrs1085308062RCV000490632; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351070043510701GGC18:g.43510700_43510701insCClinGen:CA645293914,OMIM:615068.0008C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro)57724EPG5Uncertain significancers754795342RCV000768396; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351070343510703TGNC_000018.9:g.43510703T>G-
NM_020964.3(EPG5):c.2350C>G (p.Gln784Glu)57724EPG5Uncertain significance-1RCV002048153; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351070443510704GC43510704-
NM_020964.3(EPG5):c.2348C>T (p.Ala783Val)57724EPG5Uncertain significance-1RCV001991792; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351070643510706GA43510706-
NM_020964.3(EPG5):c.2346G>A (p.Met782Ile)57724EPG5Uncertain significance-1RCV001984302; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351070843510708CT43510708-
NM_020964.3(EPG5):c.2332A>G (p.Thr778Ala)57724EPG5Uncertain significancers201694766RCV001056480; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351072243510722TC18:g.43510722T>C-
NM_020964.3(EPG5):c.2303A>G (p.Asn768Ser)57724EPG5Likely benignrs61736031RCV000981779|RCV001418884; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351075143510751TC18:g.43510751T>C-
NM_020964.3(EPG5):c.2274C>T (p.Thr758=)57724EPG5Likely benignrs1280940380RCV000919363|RCV001480941; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351078043510780GA18:g.43510780G>A-
NM_020964.3(EPG5):c.2272A>C (p.Thr758Pro)57724EPG5Uncertain significance-1RCV001361966; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351078243510782TG43510782-
NM_020964.3(EPG5):c.2272A>G (p.Thr758Ala)57724EPG5Uncertain significance-1RCV002002303; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351078243510782TC43510782-
NM_020964.3(EPG5):c.2261C>G (p.Pro754Arg)57724EPG5Uncertain significancers1163010781RCV001312841; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351079343510793GC43510793-
NM_020964.3(EPG5):c.2259C>T (p.Asp753=)57724EPG5Benignrs142253896RCV000880170; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351079543510795GA18:g.43510795G>A-
NM_020964.3(EPG5):c.2258-12A>G57724EPG5Likely benign-1RCV002173672; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351080843510808TC43510808-
NM_020964.3(EPG5):c.2257+11G>A57724EPG5Likely benign-1RCV002112819; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351476443514764CT43514764-
NM_020964.3(EPG5):c.2257+10C>T57724EPG5Benignrs202068698RCV000556870; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351476543514765GA18:g.43514765G>AClinGen:CA8949480C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2255A>G (p.Gln752Arg)57724EPG5Uncertain significancers2050480635RCV001305571; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351477743514777TC43514777-
NM_020964.3(EPG5):c.2236C>T (p.Gln746Ter)57724EPG5Pathogenicrs2050481336RCV001209390; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351479643514796GA18:g.43514796G>A-
NM_020964.3(EPG5):c.2233G>A (p.Ala745Thr)57724EPG5Benign-1RCV002218180; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351479943514799CT43514799-
NM_020964.3(EPG5):c.2232C>T (p.Pro744=)57724EPG5Likely benign-1RCV002210165; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351480043514800GA43514800-
NM_020964.3(EPG5):c.2193G>C (p.Glu731Asp)57724EPG5Uncertain significancers1218574370RCV001230383; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351483943514839CG18:g.43514839C>G-
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala)57724EPG5Uncertain significancers549760994RCV000703413; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351484343514843AG18:g.43514843A>G-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2188G>C (p.Val730Leu)57724EPG5Uncertain significance-1RCV001950697; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351484443514844CG43514844-
NM_020964.3(EPG5):c.2187G>C (p.Gln729His)57724EPG5Uncertain significance-1RCV001864141; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351484543514845CG43514845-
NM_020964.3(EPG5):c.2182C>T (p.His728Tyr)57724EPG5Uncertain significance-1RCV001944312; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351485043514850GA43514850-
NM_020964.3(EPG5):c.2181G>A (p.Met727Ile)57724EPG5Uncertain significance-1RCV001896533; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351485143514851CT43514851-
NM_020964.3(EPG5):c.2180T>C (p.Met727Thr)57724EPG5Uncertain significancers2050483526RCV001041340; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351485243514852AG18:g.43514852A>G-
NM_020964.3(EPG5):c.2176C>T (p.Leu726Phe)57724EPG5Uncertain significancers779316506RCV001045885; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351485643514856GA18:g.43514856G>A-
NM_020964.3(EPG5):c.2164A>G (p.Lys722Glu)57724EPG5Uncertain significance-1RCV002034416; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351486843514868TC43514868-
NM_020964.3(EPG5):c.2157G>A (p.Met719Ile)57724EPG5Uncertain significance-1RCV001882055; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351487543514875CT43514875-
NM_020964.3(EPG5):c.2139G>A (p.Gly713=)57724EPG5Likely benign-1RCV002183494; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351489343514893CT43514893-
NM_020964.3(EPG5):c.2127G>T (p.Glu709Asp)57724EPG5Uncertain significancers950420567RCV000792365; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351490543514905CA18:g.43514905C>A-
NM_020964.3(EPG5):c.2124C>T (p.Ser708=)57724EPG5Likely benign-1RCV002125333; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351490843514908GA43514908-
NM_020964.3(EPG5):c.2107A>G (p.Ile703Val)57724EPG5Uncertain significancers769257326RCV001332375; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351492543514925TC43514925-
NM_020964.3(EPG5):c.2100-7C>T57724EPG5Likely benignrs191189597RCV000536249|RCV000614703; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN169374184351493943514939GA18:g.43514939G>AClinGen:CA8949510CN169374 not specified;
NM_020964.3(EPG5):c.2099+9G>A57724EPG5Likely benignrs1599617384RCV000919012|RCV001391802; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351955743519557CT18:g.43519557C>T-
NM_020964.3(EPG5):c.2082T>A (p.His694Gln)57724EPG5Uncertain significance-1RCV001917791; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351958343519583AT43519583-
NM_020964.3(EPG5):c.2079A>G (p.Leu693=)57724EPG5Likely benign-1RCV002104887; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351958643519586TC43519586-
NM_020964.3(EPG5):c.2071G>A (p.Ala691Thr)57724EPG5Uncertain significance-1RCV001999609; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351959443519594CT43519594-
NM_020964.3(EPG5):c.2069G>A (p.Arg690Lys)57724EPG5Uncertain significancers1568173320RCV000690236; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351959643519596CT18:g.43519596C>T-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.2066del (p.Phe688_Leu689insTer)57724EPG5Pathogenicrs2050617604RCV001267656; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351959943519599CAC18:g.43519599_43519599del-
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)57724EPG5Conflicting interpretations of pathogenicityrs61978576RCV000224558|RCV001088153|RCV001726057; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN169374184351960243519602AG18:g.43519602A>GClinGen:CA8949530CN517202 not provided;
NM_020964.3(EPG5):c.2044G>A (p.Val682Ile)57724EPG5Uncertain significancers2050618634RCV001214330; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351962143519621CT18:g.43519621C>T-
NM_020964.3(EPG5):c.2041del (p.Gln681fs)57724EPG5Pathogenic-1RCV001982191; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351962443519624TGT43519623-
NM_020964.3(EPG5):c.2019G>T (p.Gln673His)57724EPG5Uncertain significance-1RCV001872854; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351964643519646CA43519646-
NM_020964.3(EPG5):c.2013C>T (p.Ala671=)57724EPG5Likely benignrs536068618RCV001413509|RCV000889121; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184351965243519652GA18:g.43519652G>A-
NM_020964.3(EPG5):c.1989C>T (p.Ser663=)57724EPG5Likely benignrs368887661RCV000938052|RCV001506286; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351967643519676GA18:g.43519676G>A-
NM_020964.3(EPG5):c.1971T>C (p.His657=)57724EPG5Likely benign-1RCV001475083; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351969443519694AG43519694-
NM_020964.3(EPG5):c.1954G>T (p.Gly652Cys)57724EPG5Uncertain significance-1RCV001979955; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351971143519711CA43519711-
NM_020964.3(EPG5):c.1949C>T (p.Thr650Ile)57724EPG5Uncertain significance-1RCV001899379; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351971643519716GA43519716-
NM_020964.3(EPG5):c.1948A>G (p.Thr650Ala)57724EPG5Uncertain significancers371884344RCV001220509; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351971743519717TC18:g.43519717T>C-
NM_020964.3(EPG5):c.1944-3C>T57724EPG5Likely benignrs376498905RCV000931464; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351972443519724GA18:g.43519724G>A-
NM_020964.3(EPG5):c.1944-12C>T57724EPG5Likely benign-1RCV002121115; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351973343519733GA43519733-
NM_020964.3(EPG5):c.1944-16C>T57724EPG5Benign-1RCV001514866; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351973743519737GA43519737-
NM_020964.3(EPG5):c.1944-16C>G57724EPG5Likely benign-1RCV002172665; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184351973743519737GC43519737-
NM_020964.3(EPG5):c.1943+20A>G57724EPG5Likely benign-1RCV002086721; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352310743523107TC43523107-
NM_020964.3(EPG5):c.1943+18C>T57724EPG5Likely benign-1RCV002104080; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352310943523109GA43523109-
NM_020964.3(EPG5):c.1943+4A>G57724EPG5Uncertain significance-1RCV001959542; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352312343523123TC43523123-
NM_020964.3(EPG5):c.1940T>G (p.Ile647Ser)57724EPG5Uncertain significancers770599313RCV000819786; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352313043523130AC18:g.43523130A>C-
NM_020964.3(EPG5):c.1937T>C (p.Met646Thr)57724EPG5Uncertain significance-1RCV001898802; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352313343523133AG43523133-
NM_020964.3(EPG5):c.1936A>G (p.Met646Val)57724EPG5Uncertain significance-1RCV001960783; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352313443523134TC43523134-
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter)57724EPG5Pathogenicrs912986968RCV000578398; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352314643523146GA18:g.43523146G>AClinGen:CA299784267C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1913A>C (p.Gln638Pro)57724EPG5Uncertain significancers2050708572RCV001052103; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352315743523157TG18:g.43523157T>G-
NM_020964.3(EPG5):c.1907A>G (p.Tyr636Cys)57724EPG5Uncertain significance-1RCV001886260; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352316343523163TC43523163-
NM_020964.3(EPG5):c.1904G>A (p.Arg635His)57724EPG5Uncertain significance-1RCV001996500; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352316643523166CT43523166-
NM_020964.3(EPG5):c.1904G>T (p.Arg635Leu)57724EPG5Uncertain significance-1RCV002018875; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352316643523166CA43523166-
NM_020964.3(EPG5):c.1903C>T (p.Arg635Cys)57724EPG5Uncertain significance-1RCV001962114; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352316743523167GA43523167-
NM_020964.3(EPG5):c.1896T>C (p.Asn632=)57724EPG5Likely benign-1RCV002071223; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352317443523174AG43523174-
NM_020964.3(EPG5):c.1894A>G (p.Asn632Asp)57724EPG5Uncertain significance-1RCV001985032; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352317643523176TC43523176-
NM_020964.3(EPG5):c.1880G>A (p.Gly627Glu)57724EPG5Uncertain significance-1RCV002037042; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352319043523190CT43523190-
NM_020964.3(EPG5):c.1873G>T (p.Ala625Ser)57724EPG5Uncertain significance-1RCV001878025; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352319743523197CA43523197-
NM_020964.3(EPG5):c.1869T>C (p.Leu623=)57724EPG5Likely benign-1RCV002095521; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352320143523201AG43523201-
NM_020964.3(EPG5):c.1867C>A (p.Leu623Ile)57724EPG5Uncertain significancers572756147RCV001064936; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352320343523203GT18:g.43523203G>T-
NM_020964.3(EPG5):c.1857A>T (p.Ser619=)57724EPG5Likely benign-1RCV002119817; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352321343523213TA43523213-
NM_020964.3(EPG5):c.1845C>T (p.Ala615=)57724EPG5Likely benign-1RCV001477162; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352322543523225GA43523225-
NM_020964.3(EPG5):c.1830G>A (p.Met610Ile)57724EPG5Uncertain significancers200214318RCV001038573; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352324043523240CT18:g.43523240C>T-
NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu)57724EPG5Uncertain significancers760748113RCV000685145; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352325043523250GA18:g.43523250G>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1816A>G (p.Arg606Gly)57724EPG5Uncertain significancers2050711394RCV001227583; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352325443523254TC18:g.43523254T>C-
NM_020964.3(EPG5):c.1814C>T (p.Thr605Ile)57724EPG5Uncertain significancers371526822RCV001322263; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352325643523256GA43523256-
NM_020964.3(EPG5):c.1811C>G (p.Thr604Arg)57724EPG5Uncertain significancers373011809RCV001234875; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352325943523259GC18:g.43523259G>C-
NM_020964.3(EPG5):c.1792+6C>T57724EPG5Uncertain significance-1RCV001909192; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352396543523965GA43523965-
NM_020964.3(EPG5):c.1783A>G (p.Lys595Glu)57724EPG5Uncertain significancers1483709735RCV001243970; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352398043523980TC18:g.43523980T>C-
NM_020964.3(EPG5):c.1782T>G (p.Phe594Leu)57724EPG5Uncertain significance-1RCV001878787; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352398143523981AC43523981-
NM_020964.3(EPG5):c.1766A>G (p.Gln589Arg)57724EPG5Benign/Likely benign-1RCV001522417|RCV001548359; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184352399743523997TC43523997-
NM_020964.3(EPG5):c.1749C>T (p.Pro583=)57724EPG5Likely benignrs746257883RCV000933334; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352401443524014GA18:g.43524014G>A-
NM_020964.3(EPG5):c.1713T>A (p.Asn571Lys)57724EPG5Uncertain significance-1RCV001360114; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352405043524050AT43524050-
NM_020964.3(EPG5):c.1702A>C (p.Ile568Leu)57724EPG5Uncertain significancers1302366422RCV000819041; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352406143524061TG18:g.43524061T>G-
NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly)57724EPG5Uncertain significancers767119998RCV000706574; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352406743524067TC18:g.43524067T>C-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1694C>T (p.Thr565Ile)57724EPG5Uncertain significance-1RCV001919759; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352406943524069GA43524069-
NM_020964.3(EPG5):c.1688C>T (p.Pro563Leu)57724EPG5Uncertain significance-1RCV001990008; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352407543524075GA43524075-
NM_020964.3(EPG5):c.1678-1G>A57724EPG5Likely pathogenicrs755928939RCV000530932; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352408643524086CT18:g.43524086C>TClinGen:CA8949630C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del)57724EPG5Uncertain significancers1568179586RCV000707494|RCV001772015; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184352664043526642CCTTCNC_000018.9:g.43526641_43526643del-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1664A>T (p.Glu555Val)57724EPG5Uncertain significance-1RCV002023656; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352664243526642TA43526642-
NM_020964.3(EPG5):c.1656A>G (p.Leu552=)57724EPG5Likely benignrs760250975RCV000942002|RCV001502817; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352665043526650TC18:g.43526650T>C-
NM_020964.3(EPG5):c.1653G>A (p.Thr551=)57724EPG5Likely benign-1RCV001500801; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352665343526653CT43526653-
NM_020964.3(EPG5):c.1641T>G (p.Ser547=)57724EPG5Likely benign-1RCV002155406; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352666543526665AC43526665-
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe)57724EPG5Uncertain significancers1599633287RCV001027987; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352666643526666GA18:g.43526666G>A-
NM_020964.3(EPG5):c.1626C>A (p.Ser542=)57724EPG5Likely benign-1RCV001504708; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352668043526680GT43526680-
NM_020964.3(EPG5):c.1625C>T (p.Ser542Phe)57724EPG5Uncertain significancers754742313RCV001047172; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352668143526681GA18:g.43526681G>A-
NM_020964.3(EPG5):c.1617G>A (p.Lys539=)57724EPG5Likely benign-1RCV002202671; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352668943526689CT43526689-
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln)57724EPG5Uncertain significancers142601828RCV001069313; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352669343526693CT18:g.43526693C>T-
NM_020964.3(EPG5):c.1612C>T (p.Arg538Trp)57724EPG5Uncertain significance-1RCV002016770; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352669443526694GA43526694-
NM_020964.3(EPG5):c.1609G>A (p.Glu537Lys)57724EPG5Likely benignrs183660877RCV000897447; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352669743526697CT18:g.43526697C>T-
NM_020964.3(EPG5):c.1608C>T (p.Ser536=)57724EPG5Likely benign-1RCV001480942; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352669843526698GA43526698-
NM_020964.3(EPG5):c.1579G>A (p.Ala527Thr)57724EPG5Uncertain significance-1RCV002024739; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352672743526727CT43526727-
NM_020964.3(EPG5):c.1571+20G>A57724EPG5Likely benign-1RCV002099641; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352844943528449CT43528449-
NM_020964.3(EPG5):c.1571+7G>A57724EPG5Benignrs202014798RCV000642221; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352846243528462CT18:g.43528462C>TClinGen:CA8949677C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1564C>G (p.Pro522Ala)57724EPG5Uncertain significancers748453305RCV001209704; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352847643528476GC18:g.43528476G>C-
NM_020964.3(EPG5):c.1544C>A (p.Ser515Tyr)57724EPG5Uncertain significancers746558016RCV001327155; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352849643528496GT43528496-
NM_020964.3(EPG5):c.1542A>G (p.Gln514=)57724EPG5Uncertain significance-1RCV001908317; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352849843528498TC43528498-
NM_020964.3(EPG5):c.1539G>T (p.Met513Ile)57724EPG5Uncertain significancers369120436RCV000591878|RCV001237883; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352850143528501CA18:g.43528501C>AClinGen:CA8949687CN169374 not specified;
NM_020964.3(EPG5):c.1539G>A (p.Met513Ile)57724EPG5Uncertain significance-1RCV002049446; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352850143528501CT43528501-
NM_020964.3(EPG5):c.1531C>G (p.His511Asp)57724EPG5Uncertain significancers762634619RCV000559298|RCV001569770; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184352850943528509GCNC_000018.9:g.43528509G>CClinGen:CA8949689C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1511A>C (p.His504Pro)57724EPG5Uncertain significancers754120095RCV001070200; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352852943528529TG18:g.43528529T>G-
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter)57724EPG5Pathogenicrs1203870830RCV000578230; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352853943528539TA18:g.43528539T>AClinGen:CA402349230C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1498-17del57724EPG5Benign-1RCV002192729; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352855943528559CAC43528558-
NM_020964.3(EPG5):c.1461C>T (p.Pro487=)57724EPG5Benignrs142675465RCV000884954; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352948643529486GA18:g.43529486G>A-
NM_020964.3(EPG5):c.1446T>C (p.His482=)57724EPG5Likely benign-1RCV001426745; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352950143529501AG43529501-
NM_020964.3(EPG5):c.1435_1438del (p.Phe478_Leu479insTer)57724EPG5Pathogenicrs762639913RCV000704115; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352950943529512AGAAGA18:g.43529509_43529512del-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe)57724EPG5Uncertain significancers200364337RCV000687062|RCV001731889; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184352951243529512GA18:g.43529512G>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1428C>T (p.His476=)57724EPG5Likely benign-1RCV002143928; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352951943529519GA43529519-
NM_020964.3(EPG5):c.1401A>G (p.Leu467=)57724EPG5Likely benign-1RCV002156860; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352954643529546TC43529546-
NM_020964.3(EPG5):c.1399C>T (p.Leu467=)57724EPG5Benign/Likely benignrs145998030RCV000642229|RCV001562618; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184352954843529548GANC_000018.9:g.43529548G>AClinGen:CA8949731C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1396G>A (p.Val466Met)57724EPG5Uncertain significancers370669049RCV001231803; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352955143529551CT18:g.43529551C>T-
NM_020964.3(EPG5):c.1395C>T (p.Ser465=)57724EPG5Likely benignrs374133150RCV000887815; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352955243529552GA18:g.43529552G>A-
NM_020964.3(EPG5):c.1391T>C (p.Val464Ala)57724EPG5Uncertain significancers572513821RCV000642214; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352955643529556AGNC_000018.9:g.43529556A>GClinGen:CA8949735C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1390-5T>C57724EPG5Uncertain significancers1555680767RCV000642213; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184352956243529562AG18:g.43529562A>GClinGen:CA658799049C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro)57724EPG5Uncertain significancers746862679RCV000768395; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353108743531087AGNC_000018.9:g.43531087A>G-
NM_020964.3(EPG5):c.1346A>T (p.Asp449Val)57724EPG5Uncertain significance-1RCV001867721; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353111143531111TA43531111-
NM_020964.3(EPG5):c.1318T>C (p.Phe440Leu)57724EPG5Uncertain significancers200123131RCV001205537; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353113943531139AG18:g.43531139A>G-
NM_020964.3(EPG5):c.1312G>A (p.Val438Ile)57724EPG5Uncertain significance-1RCV002013705; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353114543531145CT43531145-
NM_020964.3(EPG5):c.1293A>G (p.Gln431=)57724EPG5Uncertain significancers753444846RCV001047092; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353116443531164TC18:g.43531164T>C-
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn)57724EPG5Benign/Likely benignrs117817123RCV000547301|RCV001560978|RCV001572651; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202|MedGen:CN169374184353118643531186CT18:g.43531186C>TClinGen:CA8949766C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu)57724EPG5Uncertain significance-1RCV002010629; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353119943531199TC43531199-
NM_020964.3(EPG5):c.1254G>A (p.Ala418=)57724EPG5Benignrs368735317RCV000884296; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353120343531203CT18:g.43531203C>T-
NM_020964.3(EPG5):c.1254del (p.Ser419fs)57724EPG5Pathogenicrs2050902019RCV001047676; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353120343531203ACA18:g.43531203_43531203del-
NM_020964.3(EPG5):c.1253-1G>A57724EPG5Pathogenicrs1470797555RCV000705878; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353120543531205CT18:g.43531205C>T-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1252+5G>C57724EPG5Uncertain significancers375372125RCV000795019; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353236143532361CG18:g.43532361C>G-
NM_020964.3(EPG5):c.1252+1G>T57724EPG5Pathogenicrs763788808RCV000990095; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353236543532365CA18:g.43532365C>A-
NM_020964.3(EPG5):c.1250G>A (p.Arg417Gln)57724EPG5Uncertain significance-1RCV001951998; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353236843532368CT43532368-
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)57724EPG5Likely pathogenicrs961245497RCV000768387; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353236943532369GANC_000018.9:g.43532369G>A-
NM_020964.3(EPG5):c.1237C>T (p.His413Tyr)57724EPG5Uncertain significancers2050930158RCV001211235; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353238143532381GA18:g.43532381G>A-
NM_020964.3(EPG5):c.1212A>C (p.Ser404=)57724EPG5Likely benign-1RCV001454468; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353240643532406TG43532406-
NM_020964.3(EPG5):c.1189A>G (p.Ile397Val)57724EPG5Uncertain significancers968213343RCV001050251; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353242943532429TC18:g.43532429T>C-
NM_020964.3(EPG5):c.1188C>T (p.Tyr396=)57724EPG5Likely benign-1RCV001453564; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353243043532430GA43532430-
NM_020964.3(EPG5):c.1169G>C (p.Arg390Thr)57724EPG5Uncertain significance-1RCV001891866; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353244943532449CG43532449-
NM_020964.3(EPG5):c.1148C>G (p.Ser383Cys)57724EPG5Uncertain significancers1431365834RCV000804909; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353247043532470GC18:g.43532470G>C-
NM_020964.3(EPG5):c.1135C>T (p.Leu379=)57724EPG5Likely benign-1RCV001484415; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353248343532483GA43532483-
NM_020964.3(EPG5):c.1131_1132insGGCCAG (p.Thr378_Leu379insGlyGln)57724EPG5Uncertain significance-1RCV001372040; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353248643532487TTCTGGCC43532486-
NM_020964.3(EPG5):c.1126C>T (p.His376Tyr)57724EPG5Uncertain significance-1RCV001872531; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353249243532492GA43532492-
NM_020964.3(EPG5):c.1119G>T (p.Glu373Asp)57724EPG5Uncertain significance-1RCV002045659; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353249943532499CA43532499-
NM_020964.3(EPG5):c.1113A>G (p.Lys371=)57724EPG5Likely benign-1RCV002147502; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353250543532505TC43532505-
NM_020964.3(EPG5):c.1112A>G (p.Lys371Arg)57724EPG5Uncertain significance-1RCV001884344; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353250643532506TC43532506-
NM_020964.3(EPG5):c.1104C>T (p.Phe368=)57724EPG5Likely benign-1RCV001495414; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353251443532514GA43532514-
NM_020964.3(EPG5):c.1081C>T (p.Leu361=)57724EPG5Likely benignrs777877311RCV000642219; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353253743532537GA18:g.43532537G>AClinGen:CA8949817C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1048C>T (p.Arg350Cys)57724EPG5Likely benignrs148098259RCV000642227; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353257043532570GANC_000018.9:g.43532570G>AClinGen:CA8949825C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1045C>T (p.His349Tyr)57724EPG5Uncertain significance-1RCV001991023; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353257343532573GA43532573-
NM_020964.3(EPG5):c.1043A>G (p.Tyr348Cys)57724EPG5Uncertain significancers761594653RCV001296385; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353257543532575TC43532575-
NM_020964.3(EPG5):c.1029G>C (p.Val343=)57724EPG5Likely benign-1RCV002090492; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353258943532589CG43532589-
NM_020964.3(EPG5):c.1017_1018del (p.Ala340fs)57724EPG5Pathogenicrs2050937885RCV001209389; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353260043532601GCAG18:g.43532600_43532601del-
NM_020964.3(EPG5):c.1011T>G (p.Gly337=)57724EPG5Likely benignrs187606757RCV000901331; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353260743532607AC18:g.43532607A>C-
NM_020964.3(EPG5):c.1009G>A (p.Gly337Ser)57724EPG5Uncertain significancers1195446026RCV001244204; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353260943532609CT18:g.43532609C>T-
NM_020964.3(EPG5):c.1009-10_1009-9dup57724EPG5Benignrs148293118RCV000553984; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353261743532618AAGGNC_000018.9:g.43532618_43532619dupClinGen:CA8949834C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1008+16G>A57724EPG5Likely benign-1RCV002124316; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353434443534344CT43534344-
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)57724EPG5Pathogenic/Likely pathogenicrs201757275RCV000505787|RCV000702544; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353436143534361TC18:g.43534361T>CClinGen:CA302650,UniProtKB:Q9HCE0#VAR_069224CN517202 not provided;
NM_020964.3(EPG5):c.998T>C (p.Met333Thr)57724EPG5Uncertain significance-1RCV001967503; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353437043534370AG43534370-
NM_020964.3(EPG5):c.995A>G (p.Gln332Arg)57724EPG5Uncertain significancers374633337RCV000818683; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353437343534373TC18:g.43534373T>C-
NM_020964.3(EPG5):c.981G>A (p.Gln327=)57724EPG5Likely benign-1RCV001444600; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353438743534387CT43534387-
NM_020964.3(EPG5):c.974T>G (p.Leu325Arg)57724EPG5Uncertain significancers1181548699RCV000794323; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353439443534394AC18:g.43534394A>C-
NM_020964.3(EPG5):c.972G>T (p.Arg324=)57724EPG5Likely benignrs563029581RCV000943261|RCV001455159; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353439643534396CA18:g.43534396C>A-
NM_020964.3(EPG5):c.971G>A (p.Arg324Gln)57724EPG5Uncertain significancers769257858RCV001203418; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353439743534397CT18:g.43534397C>T-
NM_020964.3(EPG5):c.970C>T (p.Arg324Trp)57724EPG5Uncertain significance-1RCV001888420; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353439843534398GA43534398-
NM_020964.3(EPG5):c.968G>T (p.Ser323Ile)57724EPG5Uncertain significancers199732702RCV001071929; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353440043534400CA18:g.43534400C>A-
NM_020964.3(EPG5):c.964A>G (p.Lys322Glu)57724EPG5Uncertain significance-1RCV001992329; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353440443534404TC43534404-
NM_020964.3(EPG5):c.913C>T (p.Leu305=)57724EPG5Likely benign-1RCV001480640; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353445543534455GA43534455-
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter)57724EPG5Pathogenicrs767638289RCV000768392; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353447343534473GANC_000018.9:g.43534473G>A-
NM_020964.3(EPG5):c.876G>A (p.Glu292=)57724EPG5Likely benign-1RCV001505003; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353449243534492CT43534492-
NM_020964.3(EPG5):c.870T>C (p.Phe290=)57724EPG5Likely benign-1RCV001434630; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353449843534498AG43534498-
NM_020964.3(EPG5):c.858C>T (p.Asp286=)57724EPG5Likely benign-1RCV002151071; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353451043534510GA43534510-
NM_020964.3(EPG5):c.844A>G (p.Met282Val)57724EPG5Uncertain significancers1358436668RCV001326425; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353452443534524TC43534524-
NM_020964.3(EPG5):c.830A>G (p.Glu277Gly)57724EPG5Uncertain significancers2050982781RCV001219249; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353453843534538TC18:g.43534538T>C-
NM_020964.3(EPG5):c.814G>A (p.Val272Ile)57724EPG5Uncertain significancers367846863RCV001047367|RCV001252711; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO184353455443534554CT18:g.43534554C>T-
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu)57724EPG5Benign/Likely benignrs180913079RCV000736055|RCV000968293|RCV001702836; NMedGen:CN169374|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184353456843534568GANC_000018.9:g.43534568G>A-
NM_020964.3(EPG5):c.780A>G (p.Leu260=)57724EPG5Benignrs186213665RCV000973578; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353458843534588TC18:g.43534588T>C-
NM_020964.3(EPG5):c.752A>T (p.Glu251Val)57724EPG5Uncertain significance-1RCV001883699; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353461643534616TA43534616-
NM_020964.3(EPG5):c.741G>A (p.Pro247=)57724EPG5Likely benignrs765449856RCV000980970|RCV001480133; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353462743534627CT18:g.43534627C>T-
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu)57724EPG5Benignrs140494095RCV000528950|RCV001538212; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184353462843534628GA18:g.43534628G>AClinGen:CA8949896C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.732A>G (p.Pro244=)57724EPG5Likely benign-1RCV001408069; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353463643534636TC43534636-
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter)57724EPG5Likely pathogenicrs372940918RCV001332380; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353464743534647GA43534647-
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu)57724EPG5Uncertain significancers370270531RCV001027782; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353465543534655CA18:g.43534655C>A-
NM_020964.3(EPG5):c.712C>T (p.Arg238Cys)57724EPG5Uncertain significance-1RCV001367428; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353465643534656GA43534656-
NM_020964.3(EPG5):c.708G>A (p.Leu236=)57724EPG5Likely benignrs182077104RCV000899488; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353466043534660CT18:g.43534660C>T-
NM_020964.3(EPG5):c.688T>G (p.Leu230Val)57724EPG5Uncertain significancers774387511RCV000812149; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353468043534680AC18:g.43534680A>C-
NM_020964.3(EPG5):c.683C>A (p.Pro228Gln)57724EPG5Uncertain significancers200151675RCV000815809; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353468543534685GT18:g.43534685G>T-
NM_020964.3(EPG5):c.676G>A (p.Glu226Lys)57724EPG5Uncertain significancers776920434RCV001206174; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353469243534692CT18:g.43534692C>T-
NM_020964.3(EPG5):c.674G>C (p.Gly225Ala)57724EPG5Uncertain significancers200910594RCV000705440; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353469443534694CG18:g.43534694C>G-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.654G>T (p.Gln218His)57724EPG5Uncertain significancers753111853RCV000798551; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353471443534714CA18:g.43534714C>A-
NM_020964.3(EPG5):c.641A>G (p.Lys214Arg)57724EPG5Uncertain significance-1RCV001901787; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353472743534727TC43534727-
NM_020964.3(EPG5):c.624G>A (p.Gln208=)57724EPG5Likely benign-1RCV002115000; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353474443534744CT43534744-
NM_020964.3(EPG5):c.611A>G (p.Lys204Arg)57724EPG5Uncertain significancers749123170RCV000822262; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353475743534757TC18:g.43534757T>C-
NM_020964.3(EPG5):c.611A>C (p.Lys204Thr)57724EPG5Uncertain significance-1RCV001880574; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353475743534757TG43534757-
NM_020964.3(EPG5):c.606A>C (p.Pro202=)57724EPG5Likely benign-1RCV002104019; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353476243534762TG43534762-
NM_020964.3(EPG5):c.586G>A (p.Gly196Ser)57724EPG5Benign-1RCV001514674; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353478243534782CT43534782-
NM_020964.3(EPG5):c.544A>G (p.Lys182Glu)57724EPG5Benignrs59422275RCV000455380|RCV000839786|RCV001512743; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353482443534824TCNC_000018.9:g.43534824T>CClinGen:CA8949930CN169374 not specified;
NM_020964.3(EPG5):c.533G>A (p.Ser178Asn)57724EPG5Uncertain significance-1RCV001974605; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353483543534835CT43534835-
NM_020964.3(EPG5):c.495A>C (p.Pro165=)57724EPG5Likely benign-1RCV001406292; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353487343534873TG43534873-
NM_020964.3(EPG5):c.494C>T (p.Pro165Leu)57724EPG5Uncertain significancers201402291RCV000533231; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353487443534874GA18:g.43534874G>AClinGen:CA8949935C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.493C>G (p.Pro165Ala)57724EPG5Uncertain significance-1RCV001986690; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353487543534875GC43534875-
NM_020964.3(EPG5):c.488C>T (p.Thr163Ile)57724EPG5Uncertain significancers1167290983RCV001313484; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353488043534880GA43534880-
NM_020964.3(EPG5):c.484T>C (p.Tyr162His)57724EPG5Uncertain significancers371755239RCV001238960; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353488443534884AG18:g.43534884A>G-
NM_020964.3(EPG5):c.460A>G (p.Ser154Gly)57724EPG5Uncertain significance-1RCV002002985; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353490843534908TC43534908-
NM_020964.3(EPG5):c.450A>G (p.Gly150=)57724EPG5Uncertain significance-1RCV001972277; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353491843534918TC43534918-
NM_020964.3(EPG5):c.444_445delinsTT (p.Gln148_Gly149delinsHisCys)57724EPG5Uncertain significance-1RCV002048476; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353492343534924CTAA43534923-
NM_020964.3(EPG5):c.438G>A (p.Ser146=)57724EPG5Likely benignrs186410807RCV000642236; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353493043534930CT18:g.43534930C>TClinGen:CA8949945C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.437C>T (p.Ser146Leu)57724EPG5Uncertain significancers368719987RCV001300283; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353493143534931GA43534931-
NM_020964.3(EPG5):c.430A>G (p.Asn144Asp)57724EPG5Uncertain significancers775702849RCV001322364; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353493843534938TC43534938-
NM_020964.3(EPG5):c.427G>A (p.Glu143Lys)57724EPG5Uncertain significance-1RCV002030897; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353494143534941CT43534941-
NM_020964.3(EPG5):c.424G>T (p.Glu142Ter)57724EPG5Pathogenicrs190673127RCV000691032; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353494443534944CA18:g.43534944C>A-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.424G>A (p.Glu142Lys)57724EPG5Uncertain significancers190673127RCV000809144; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353494443534944CT18:g.43534944C>T-
NM_020964.3(EPG5):c.420_421insTCTA (p.Val141fs)57724EPG5Pathogenic-1RCV001783201; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353494743534948CCTAGA43534947-
NM_020964.3(EPG5):c.407A>G (p.Lys136Arg)57724EPG5Uncertain significancers199571302RCV000688912; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353496143534961TC18:g.43534961T>C-C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.404C>G (p.Pro135Arg)57724EPG5Uncertain significancers773717848RCV001219782; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353496443534964GC18:g.43534964G>C-
NM_020964.3(EPG5):c.401C>G (p.Thr134Ser)57724EPG5Uncertain significance-1RCV001366757; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353496743534967GC43534967-
NM_020964.3(EPG5):c.393A>G (p.Lys131=)57724EPG5Likely benign-1RCV002098015; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353497543534975TC43534975-
NM_020964.3(EPG5):c.380A>G (p.Asn127Ser)57724EPG5Uncertain significance-1RCV002009332; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353498843534988TC43534988-
NM_020964.3(EPG5):c.375A>G (p.Gly125=)57724EPG5Likely benign-1RCV001494459; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353499343534993TC43534993-
NM_020964.3(EPG5):c.369C>T (p.His123=)57724EPG5Likely benignrs756190726RCV000978898|RCV001468524; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353499943534999GA18:g.43534999G>A-
NM_020964.3(EPG5):c.353T>C (p.Val118Ala)57724EPG5Uncertain significance-1RCV001933255; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353501543535015AG43535015-
NM_020964.3(EPG5):c.350C>T (p.Ala117Val)57724EPG5Uncertain significancers372840001RCV000799627; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353501843535018GA18:g.43535018G>A-
NM_020964.3(EPG5):c.341G>T (p.Gly114Val)57724EPG5Uncertain significance-1RCV001923038; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353502743535027CA43535027-
NM_020964.3(EPG5):c.340G>A (p.Gly114Arg)57724EPG5Uncertain significancers375017695RCV001228106; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353502843535028CT18:g.43535028C>T-
NM_020964.3(EPG5):c.339G>T (p.Val113=)57724EPG5Likely benign-1RCV002121691; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353502943535029CA43535029-
NM_020964.3(EPG5):c.338T>G (p.Val113Gly)57724EPG5Uncertain significance-1RCV002048136; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353503043535030AC43535030-
NM_020964.3(EPG5):c.329G>C (p.Arg110Thr)57724EPG5Uncertain significance-1RCV001976963; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353503943535039CG43535039-
NM_020964.3(EPG5):c.328A>G (p.Arg110Gly)57724EPG5Uncertain significancers761327582RCV000822040; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353504043535040TC18:g.43535040T>C-
NM_020964.3(EPG5):c.320G>A (p.Gly107Glu)57724EPG5Uncertain significance-1RCV001359241; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353504843535048CT43535048-
NM_020964.3(EPG5):c.310_311dup (p.Glu105fs)57724EPG5Pathogenicrs1483969601RCV000822589; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353505643535057CCTT18:g.43535056_43535057insTT-
NM_020964.3(EPG5):c.306C>T (p.Pro102=)57724EPG5Likely benign-1RCV002109183; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353506243535062GA43535062-
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile)57724EPG5Conflicting interpretations of pathogenicityrs200530606RCV000224829|RCV001088295; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353506943535069GA18:g.43535069G>AClinGen:CA8949978CN517202 not provided;
NM_020964.3(EPG5):c.291G>T (p.Thr97=)57724EPG5Likely benignrs376360251RCV000884866; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353507743535077CA18:g.43535077C>A-
NM_020964.3(EPG5):c.291G>A (p.Thr97=)57724EPG5Likely benign-1RCV002199723; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353507743535077CT43535077-
NM_020964.3(EPG5):c.290C>T (p.Thr97Met)57724EPG5Uncertain significancers371113007RCV001058061; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353507843535078GA18:g.43535078G>A-
NM_020964.3(EPG5):c.280G>C (p.Glu94Gln)57724EPG5Uncertain significance-1RCV001919973; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353508843535088CG43535088-
NM_020964.3(EPG5):c.270A>G (p.Ile90Met)57724EPG5Uncertain significancers374098492RCV001248150; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353509843535098TC18:g.43535098T>C-
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)57724EPG5Pathogenicrs183478189RCV000760667|RCV001383670; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353510543535105ACNC_000018.9:g.43535105A>C-
NM_020964.3(EPG5):c.249A>C (p.Val83=)57724EPG5Likely benign-1RCV002121237; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353511943535119TG43535119-
NM_020964.3(EPG5):c.240G>A (p.Met80Ile)57724EPG5Uncertain significance-1RCV002039173; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353512843535128CT43535128-
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)57724EPG5Conflicting interpretations of pathogenicityrs201067154RCV000548885|RCV001706669; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493|MedGen:CN517202184353515443535154CTNC_000018.9:g.43535154C>TClinGen:CA8949996C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.167A>G (p.Lys56Arg)57724EPG5Uncertain significancers761554872RCV000807779; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353520143535201TC18:g.43535201T>C-
NM_020964.3(EPG5):c.164T>G (p.Phe55Cys)57724EPG5Uncertain significance-1RCV001966073; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353520443535204AC43535204-
NM_020964.3(EPG5):c.151C>G (p.Leu51Val)57724EPG5Likely benignrs188069373RCV000826992|RCV001086361; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353521743535217GC18:g.43535217G>C-
NM_020964.3(EPG5):c.150T>G (p.Ser50=)57724EPG5Likely benignrs368060363RCV000917753|RCV001858575; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353521843535218AC18:g.43535218A>C-
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter)57724EPG5Likely pathogenicrs866435487RCV000768389; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353523243535232GANC_000018.9:g.43535232G>A-
NM_020964.3(EPG5):c.135G>T (p.Glu45Asp)57724EPG5Uncertain significancers370173694RCV001058140; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353523343535233CA18:g.43535233C>A-
NM_020964.3(EPG5):c.104G>A (p.Ser35Asn)57724EPG5Benign/Likely benignrs145177562RCV000828284|RCV001080010; NMedGen:CN517202|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353526443535264CTNC_000018.9:g.43535264C>TClinGen:CA8950008C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.103A>G (p.Ser35Gly)57724EPG5Uncertain significancers746311646RCV001213665; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353526543535265TC18:g.43535265T>C-
NM_020964.3(EPG5):c.65A>C (p.Glu22Ala)57724EPG5Uncertain significance-1RCV001989254; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184353530343535303TG43535303-
NC_000018.9:g.(?_43547123)_(43547205_?)del57724EPG5Pathogenic-1RCV001957414; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354712343547205nana-1-
NM_020964.3(EPG5):c.63+18C>T57724EPG5Benign-1RCV001521072; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354712543547125GA43547125-
NM_020964.3(EPG5):c.63+15del57724EPG5Benign-1RCV001522263; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354712843547128TGT43547127-
NM_020964.3(EPG5):c.63+14C>A57724EPG5Benign-1RCV002114928; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354712943547129GT43547129-
NM_020964.3(EPG5):c.63+7A>C57724EPG5Likely benign-1RCV001491956; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354713643547136TG43547136-
NM_020964.3(EPG5):c.57A>G (p.Lys19=)57724EPG5Likely benign-1RCV002134420; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354714943547149TC43547149-
NM_020964.3(EPG5):c.35AGGCCA[3] (p.12KA[3])57724EPG5Uncertain significancers769267797RCV000810877; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354715943547160CCTGGCCT18:g.43547159_43547160insTGGCCT-
NM_020964.3(EPG5):c.29_34dup (p.Arg10_Ala11dup)57724EPG5Uncertain significancers2051286087RCV001348555; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354717143547172TTTGGCCC43547171-
NM_020964.3(EPG5):c.33C>G (p.Ala11=)57724EPG5Benignrs539082493RCV000926139; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354717343547173GC18:g.43547173G>C-
NM_020964.3(EPG5):c.31G>A (p.Ala11Thr)57724EPG5Uncertain significance-1RCV001878008; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354717543547175CT43547175-
NM_020964.3(EPG5):c.25C>A (p.Arg9Ser)57724EPG5Uncertain significance-1RCV002210920; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354718143547181GT43547181-
NM_020964.3(EPG5):c.20C>A (p.Pro7His)57724EPG5Uncertain significance-1RCV001915895; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354718643547186GT43547186-
NM_020964.3(EPG5):c.20C>T (p.Pro7Leu)57724EPG5Uncertain significance-1RCV001957150; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354718643547186GA43547186-
NM_020964.3(EPG5):c.18G>A (p.Lys6=)57724EPG5Benignrs181345590RCV000543536; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354718843547188CTNC_000018.9:g.43547188C>TClinGen:CA8950045C1855772 242840 Vici syndrome;
NM_020964.3(EPG5):c.1A>G (p.Met1Val)57724EPG5Likely pathogenicrs1135402732RCV001855042; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354720543547205TCNC_000018.9:g.43547205T>CClinVar:267447C1855772 242840 Vici syndrome;
NC_000018.9:g.43547114_43604673del-1EPG5;PSTPIP2Pathogenic-1RCV001844322; NMONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184354711443604673nana-1-
NC_000018.9:g.(?_42281312)_(45423127_?)dup-1subset of 19 genes: KATNAL2:SEUncertain significance-1RCV001923035|RCV001923036; NMONDO:MONDO:0100328,MedGen:C3280240,OMIM:PS614231, Orphanet:306558|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840, Orphanet:1493184228131245423127nana-1-
MSeqDR Portal