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:
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Corneal Dystrophies, Hereditary (D003317)
Parent Node:
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Hearing Loss, Sensorineural (D006319)
..Starting node
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Corneal dystrophy and perceptive deafness (C535473)

       Child Nodes:



 Sister Nodes: 
..expandAcrootoocular Syndrome (C564866)
..expandAlbinism ocular late onset sensorineural deafness (C537043)
..expandArthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..expandAtaxia, Deafness, and Cardiomyopathy (C565932)
..expandAthabaskan brainstem dysgenesis (C535397)
..expandAtherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..expandAuditory Neuropathy, Nonsyndromic Recessive (C563398)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBADS Syndrome (C562663)
..expandBarakat syndrome (C537907)
..expandBartter Syndrome, Type 4A (C566530)
..expandBartter Syndrome, Type 4b (C567762)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBrachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..expandBrown-Vialetto-Van Laere syndrome (C537111)
..expandCAPOS syndrome (C535351)
..expandCardiomyopathy, Dilated, 1J (C565337)
..expandCataract ataxia deafness (C538283)
..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)
..expandCerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..expandCerebellar Ataxia and Neurosensory Deafness (C565869)
..expandCerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..expandCharcot-Marie-Tooth disease and deafness (C538078)
..expandCharcot-Marie-Tooth disease, Type 2J (C535417)
..expandChitty Hall Baraitser syndrome (C535928)
..expandChudley-Mccullough syndrome (C535459)
..expandCleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..expandCochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..expandColoboma, cleft lip-palate and mental retardation syndrome (C535971)
..expandCongenital ectodermal dysplasia with hearing loss (C535757)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCowchock syndrome (C536450)
..expandCraniofacial deafness hand syndrome (C536453)
..expandCutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..expandDeafness enamel hypoplasia nail defects (C535994)
..expandDeafness oligodontia syndrome (C538049)
..expandDeafness, Aminoglycoside-Induced (C564013)  LSDB  L: 00051;
..expandDeafness, Autosomal Dominant 1 (C565121)
..expandDeafness, Autosomal Dominant 10 (C563354)
..expandDeafness, Autosomal Dominant 11 (C563353)
..expandDeafness, Autosomal Dominant 12 (C563295)
..expandDeafness, Autosomal Dominant 13 (C566612)
..expandDeafness, Autosomal Dominant 15 (C566545)
..expandDeafness, Autosomal Dominant 16 (C565832)
..expandDeafness, Autosomal Dominant 18 (C565267)
..expandDeafness, Autosomal Dominant 20 (C565754)
..expandDeafness, Autosomal Dominant 21 (C564634)
..expandDeafness, Autosomal Dominant 23 (C565357)
..expandDeafness, Autosomal Dominant 24 (C565239)
..expandDeafness, Autosomal Dominant 25 (C565319)
..expandDeafness, Autosomal Dominant 28 (C563890)
..expandDeafness, Autosomal Dominant 2A (C567441)
..expandDeafness, Autosomal Dominant 2B (C567214)
..expandDeafness, Autosomal Dominant 30 (C564706)
..expandDeafness, Autosomal Dominant 31 (C563888)
..expandDeafness, Autosomal Dominant 36 (C564675)
..expandDeafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..expandDeafness, Autosomal Dominant 3A (C567277)
..expandDeafness, Autosomal Dominant 3B (C567215)
..expandDeafness, Autosomal Dominant 4 (C563460)
..expandDeafness, Autosomal Dominant 41 (C564272)
..expandDeafness, Autosomal Dominant 43 (C564246)
..expandDeafness, Autosomal Dominant 44 (C564399)
..expandDeafness, Autosomal Dominant 47 (C563885)
..expandDeafness, Autosomal Dominant 48 (C564322)
..expandDeafness, Autosomal Dominant 49 (C564250)
..expandDeafness, Autosomal Dominant 5 (C563410)
..expandDeafness, Autosomal Dominant 52 (C564348)
..expandDeafness, Autosomal Dominant 53 (C566495)
..expandDeafness, Autosomal Dominant 59 (C567216)
..expandDeafness, Autosomal Dominant 6 (C563421)
..expandDeafness, Autosomal Dominant 7 (C563321)
..expandDeafness, Autosomal Dominant 9 (C563335)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 17 (C538050)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 22 (C538197)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 23 (C538198)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 24 (C538199)
..expandDeafness, Autosomal Recessive (C564609)
..expandDeafness, Autosomal Recessive 10 (C565341) Child1
..expandDeafness, Autosomal Recessive 12 (C563327)
..expandDeafness, Autosomal Recessive 13 (C566410)
..expandDeafness, Autosomal Recessive 14 (C566344)
..expandDeafness, Autosomal Recessive 15 (C566611)
..expandDeafness, Autosomal Recessive 16 (C566339)
..expandDeafness, Autosomal Recessive 17 (C566418)
..expandDeafness, Autosomal Recessive 18 (C566580) Child1
..expandDeafness, Autosomal Recessive 1A (C567134)  LSDB  L: 00489;
..expandDeafness, Autosomal Recessive 1b (C567213)
..expandDeafness, Autosomal Recessive 2 (C564007)
..expandDeafness, Autosomal Recessive 20 (C565828)
..expandDeafness, Autosomal Recessive 21 (C566353)
..expandDeafness, Autosomal Recessive 22 (C564633)
..expandDeafness, Autosomal Recessive 23 (C563705)
..expandDeafness, Autosomal Recessive 26 (C565329)
..expandDeafness, Autosomal Recessive 27 (C565287)
..expandDeafness, Autosomal Recessive 28 (C565218)
..expandDeafness, Autosomal Recessive 3 (C563961)
..expandDeafness, Autosomal Recessive 30 (C564624)
..expandDeafness, Autosomal Recessive 31 (C564629)
..expandDeafness, Autosomal Recessive 32 (C563884)
..expandDeafness, Autosomal Recessive 33 (C564602)
..expandDeafness, Autosomal Recessive 35 (C563908)
..expandDeafness, Autosomal Recessive 36 (C563815)
..expandDeafness, Autosomal Recessive 37 (C564331)
..expandDeafness, Autosomal Recessive 38 (C564273)
..expandDeafness, Autosomal Recessive 39 (C564265)
..expandDeafness, Autosomal Recessive 4 (C566366)
..expandDeafness, Autosomal Recessive 40 (C564266)
..expandDeafness, Autosomal Recessive 42 (C566460)
..expandDeafness, Autosomal Recessive 44 (C565716)
..expandDeafness, Autosomal Recessive 46 (C566459)
..expandDeafness, Autosomal Recessive 47 (C566498)
..expandDeafness, Autosomal Recessive 48 (C563720)
..expandDeafness, Autosomal Recessive 49 (C565717)
..expandDeafness, Autosomal Recessive 5 (C563444)
..expandDeafness, Autosomal Recessive 53 (C566453)
..expandDeafness, Autosomal Recessive 59 (C565698)
..expandDeafness, Autosomal Recessive 6 (C563418)
..expandDeafness, Autosomal Recessive 62 (C565719)
..expandDeafness, Autosomal Recessive 63 (C566951)
..expandDeafness, Autosomal Recessive 65 (C565211)
..expandDeafness, Autosomal Recessive 66 (C565701)
..expandDeafness, Autosomal Recessive 67 (C565207)
..expandDeafness, Autosomal Recessive 68 (C563669)
..expandDeafness, Autosomal Recessive 7 (C563417)
..expandDeafness, Autosomal Recessive 71 (C567562)
..expandDeafness, Autosomal Recessive 77 (C567543)
..expandDeafness, Autosomal Recessive 79 (C567651)
..expandDeafness, Autosomal Recessive 9 (C563396)
..expandDeafness, Autosomal Recessive, 24 (C567027)
..expandDeafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 (C563395) Child1
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDeafness, Congenital, with Total Albinism (C565646)
..expandDeafness, High-Frequency Sensorineural, X-Linked (C564432)
..expandDeafness, Mid-Tone Neural (C565122)
..expandDeafness, Progressive High-Tone Neural (C562423)
..expandDeafness, Sensorineural, And Male Infertility (C567010)
..expandDeafness, Sensorineural, Autosomal-Mitochondrial Type (C565637)  LSDB  L: 00159;
..expandDeafness, Sensorineural, with Hypertrophic Cardiomyopathy (C565236)
..expandDeafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..expandDeafness, X-Linked 1 (C564433)
..expandDeafness, X-Linked 3 (C564727)
..expandDeafness, X-Linked 4 (C564723)
..expandDeafness, X-Linked 5 (C564472)
..expandDigitorenocerebral Syndrome (C563052)
..expandDonnai-Barrow syndrome (C536390)
..expandEctodermal Dysplasia and Neurosensory Deafness (C565606)
..expandEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..expandErmine phenotype (C535508)
..expandFitzsimmons Walson Mellor syndrome (C537937)
..expandFlynn Aird syndrome (C537066)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGemignani syndrome (C537678)
..expandGonadal dysgenesis XX type deafness (C537286) Child1
..expandGriscelli syndrome type 1 (C537301)
..expandHearing Loss, Central (D006313) Child16  LSDB C:1
..expandHearing Loss, Noise-Induced (D006317)
..expandHID Syndrome (C566528)
..expandHistiocytosis with joint contractures and sensorineural deafness (C538322)
..expandHittner Hirsch Kreh syndrome (C538323)
..expandHomozygous 11p15-p14 Deletion Syndrome (C564701)
..expandInsulin-Like Growth Factor I Deficiency (C563867)
..expandJohanson Blizzard syndrome (C535880)
..expandKnuckle pads, leuconychia and sensorineural deafness (C537210)
..expandLICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..expandLipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..expandMacrothrombocytopenia progressive deafness (C537831)
..expandMarshall syndrome (C536025)
..expandMartin-Probst Deafness-Mental Retardation Syndrome (C564495)
..expandMYH9-Related Disorders (C535507)
..expandNephropathy deafness hyperparathyroidism (C536401)
..expandNephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..expandNephropathy, Progressive, with Deafness (C563713)
..expandNeuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
..expandNonsyndromic sensorineural hearing loss (C537845)
..expandOptic atrophy 1 and deafness (C537124)  LSDB  L: 00657;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOtodental Dysplasia (C563482)
..expandOtofacioosseous-Gonadal Syndrome (C566597)
..expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..expandPalmoplantar Keratoderma with Deafness (C536152)
..expandParagangliomas with Sensorineural Hearing Loss (C566831)
..expandPendred syndrome (C536648)
..expandPfeiffer Kapferer syndrome (C537887)
..expandPresbycusis (D011304) Child2
..expandProgressive hearing loss stapes fixation (C536424)
..expandPrune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..expandRenal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
..expandRenal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
..expandRetinitis Pigmentosa Inversa with Deafness (C564842)
..expandRobinson Miller Bensimon syndrome (C535864)
..expandRod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..expandSchaap Taylor Baraitser syndrome (C536626)
..expandSensorineural Deafness With Mild Renal Dysfunction (C567544)
..expandSensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth (C566560)
..expandSeSAME syndrome (C557674)
..expandSpastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..expandSplit-Hand-Foot Malformation With Sensorineural Hearing Loss (C565647)
..expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..expandStickler syndrome, type 1 (C537492)
..expandSTICKLER SYNDROME, TYPE IV (OMIM:614134)
..expandSTICKLER SYNDROME, TYPE V (OMIM:614284)
..expandThiamine responsive megaloblastic anemia syndrome (C536510)
..expandTownes-Brocks syndrome (C536974)
..expandTownes-Brocks-Branchiootorenal-Like Syndrome (C566272)
..expandTreft Sanborn Carey syndrome (C536544)
..expandTunglang Savage Bellman syndrome (C536927)
..expandUsher Syndromes (D052245) Child19  LSDB  L: 00160;
..expandVohwinkel syndrome (C536457)
..expandWinkelman Bethge Pfeiffer syndrome (C536710)
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3007
Name:Corneal dystrophy and perceptive deafness
Definition:
Alternative IDs:OMIM:217400
ParentIDs:MESH:D003317|MESH:D006319
TreeNumbers:C09.218.458.341.887/C535473 |C10.597.751.418.341.887/C535473 |C11.204.236/C535473 |C11.270.162/C535473 |C16.320.290.162/C535473 |C23.888.592.763.393.341.887/C535473
Synonyms:CDPD |CDPD1 |Congenital corneal dystrophy, progressive sensorineural deafness |Corneal dystrophy and sensorineural deafness |Harboyan syndrome
Slim Mappings:Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C535473
MeSH: C535473
OMIM: 217400;
MSeqDR LSDB:  
Genes: SLC4A11;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001131Corneal dystrophy
3 HP:0007759Opacification of the corneal stroma
4 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001174089.2(SLC4A11):c.2610C>T (p.Asp870=)83959SLC4A11Benignrs76962118RCV000948020|RCV001273523; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032084513208451GA20:g.3208451G>A-
NM_001174089.2(SLC4A11):c.2559-5C>T83959SLC4A11Likely benignrs561993804RCV000928076|RCV001276998; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032085073208507GA20:g.3208507G>A-
NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val)83959SLC4A11Pathogenicrs121909396RCV000001378; NMONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032089453208945TC20:g.3208945T>CClinGen:CA114918,OMIM:610206.0016C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)83959SLC4A11Pathogenic/Likely pathogenicrs121909394RCV000001379|RCV000595591; NMONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MedGen:CN5172022032089833208983AG20:g.3208983A>GClinGen:CA114920,OMIM:610206.0012C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=)83959SLC4A11Benign/Likely benignrs58757394RCV000312772|RCV000992993|RCV001273524; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032090123209012CT20:g.3209012C>TClinGen:CA9741456CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2391T>G (p.Thr797=)83959SLC4A11Conflicting interpretations of pathogenicityrs7262506RCV000370133|RCV000948022|RCV001277000; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032090723209072AC20:g.3209072A>CClinGen:CA9741466
NM_001174089.2(SLC4A11):c.2388+7G>A83959SLC4A11Conflicting interpretations of pathogenicityrs117959552RCV000919591|RCV001143498|RCV001277001; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032091513209151CT20:g.3209151C>T-
NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=)83959SLC4A11Uncertain significance-1RCV001136920|RCV001279947; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032092063209206GA20:g.3209206G>A-
NM_001174089.2(SLC4A11):c.2331C>A (p.Leu777=)83959SLC4A11Likely benignrs1568527712RCV000977888|RCV001277002; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032092153209215GT20:g.3209215G>T-
NM_001174089.2(SLC4A11):c.2292C>T (p.Pro764=)83959SLC4A11Benignrs139086376RCV000962785|RCV001273525; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032092543209254GA20:g.3209254G>A-
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=)83959SLC4A11Conflicting interpretations of pathogenicityrs200879869RCV000272119|RCV000921591|RCV001277003; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032093203209320CT20:g.3209320C>TClinGen:CA9741522
NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=)83959SLC4A11Conflicting interpretations of pathogenicityrs149912717RCV000329568|RCV000973614|RCV001277004; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032093533209353CG20:g.3209353C>GClinGen:CA9741529
NM_001174089.2(SLC4A11):c.2193-4G>A83959SLC4A11Benignrs10048856RCV000358562|RCV000992992|RCV001273526; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032093573209357CT20:g.3209357C>TClinGen:CA9741530CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=)83959SLC4A11Likely benignrs1600561128RCV000932191|RCV001277005; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032094923209492GA20:g.3209492G>A-
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)83959SLC4A11Uncertain significancers143965185RCV000992991|RCV001139166|RCV001273527; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032095003209500CT20:g.3209500C>T-
NM_001174089.2(SLC4A11):c.2175C>T (p.Asn725=)83959SLC4A11Likely benignrs372681319RCV000931090|RCV001279948; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032095013209501GA20:g.3209501G>A-
NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=)83959SLC4A11Likely benignrs201982813RCV000945147|RCV001277006; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032096033209603GA20:g.3209603G>A-
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr)83959SLC4A11Likely pathogenicrs748362724RCV000625921; NMONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032096143209614CT20:g.3209614C>TClinGen:CA9741595C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=)83959SLC4A11Conflicting interpretations of pathogenicityrs140461431RCV000903467|RCV001139167|RCV001273528; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032096153209615GA20:g.3209615G>A-
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=)83959SLC4A11Conflicting interpretations of pathogenicityrs141079217RCV000266258|RCV000931846|RCV001272044; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032096183209618GC20:g.3209618G>CClinGen:CA9741597
NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=)83959SLC4A11Conflicting interpretations of pathogenicityrs140234175RCV000924706|RCV001139170|RCV001272045; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032098003209800GT20:g.3209800G>T-
NM_001174089.2(SLC4A11):c.1785C>T (p.Cys595=)83959SLC4A11Benignrs201613216RCV000906881|RCV001273529; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032100563210056GA20:g.3210056G>A-
NM_001174089.2(SLC4A11):c.1782C>T (p.Asp594=)83959SLC4A11Uncertain significance-1RCV001279949; NMONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032100593210059GA20:g.3210059G>A-
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=)83959SLC4A11Conflicting interpretations of pathogenicityrs62208067RCV000903821|RCV001141793|RCV001273530; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032100623210062GA20:g.3210062G>A-
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter)83959SLC4A11Pathogenicrs121909390RCV000001370|RCV000815081|RCV001273531; NMONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032100763210076GA20:g.3210076G>AClinGen:CA250439,OMIM:610206.0004
NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=)83959SLC4A11Conflicting interpretations of pathogenicityrs144123179RCV000959603|RCV001143595|RCV001273532; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032101903210190GC20:g.3210190G>C-
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=)83959SLC4A11Conflicting interpretations of pathogenicityrs147324566RCV000942114|RCV001143596|RCV001273533; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032102083210208CT20:g.3210208C>T-
NM_001174089.2(SLC4A11):c.1635G>A (p.Thr545=)83959SLC4A11Likely benignrs201133609RCV000896463|RCV001272046; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032102773210277CT20:g.3210277C>T-
NM_001174089.2(SLC4A11):c.1572C>T (p.Leu524=)83959SLC4A11Conflicting interpretations of pathogenicityrs201595005RCV000291917|RCV000879502|RCV001272047; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032103403210340GA20:g.3210340G>AClinGen:CA9741790
NM_001174089.2(SLC4A11):c.1489+8C>T83959SLC4A11Conflicting interpretations of pathogenicityrs760670114RCV000346818|RCV000901320|RCV001272048; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032108253210825GA20:g.3210825G>AClinGen:CA9741833
NM_001174089.2(SLC4A11):c.1419G>A (p.Ser473=)83959SLC4A11Conflicting interpretations of pathogenicityrs149866580RCV000382721|RCV000925375|RCV001272049; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032109033210903CT20:g.3210903C>TClinGen:CA9741846
NM_001174089.2(SLC4A11):c.1415G>A (p.Arg472Lys)83959SLC4A11Pathogenicrs121909393RCV000001377; NMONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032111613211161CT20:g.3211161C>TOMIM:610206.0011,ClinGen:CA114916C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.1330_1333delinsA (p.Tyr444_Ala445delinsThr)83959SLC4A11Pathogenicrs869320722RCV000001376; NMONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032112433211246CGTAT20:g.3211244_3211246delClinGen:CA354211,OMIM:610206.0010
NM_001174089.2(SLC4A11):c.1168+10T>G83959SLC4A11Likely benignrs1439498080RCV000903092|RCV001272050; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032115693211569AC20:g.3211569A>C-
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=)83959SLC4A11Conflicting interpretations of pathogenicityrs78274653RCV000403119|RCV000913274|RCV001272051; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032115803211580GA20:g.3211580G>AClinGen:CA9741976
NM_001174089.2(SLC4A11):c.1158C>T (p.Asp386=)83959SLC4A11Likely benignrs764910925RCV000928710|RCV001272052; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032115893211589GA20:g.3211589G>A-
NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=)83959SLC4A11Conflicting interpretations of pathogenicityrs139297339RCV000971084|RCV001139272|RCV001273534; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032116163211616GA20:g.3211616G>A-
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr)83959SLC4A11Uncertain significancers370322948RCV000992989|RCV001139273|RCV001273535; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032116983211698AG20:g.3211698A>G-
NM_001174089.2(SLC4A11):c.1043-10C>T83959SLC4A11Conflicting interpretations of pathogenicityrs201799793RCV000963528|RCV001139274|RCV001273536; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032117143211714GA20:g.3211714G>A-
NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=)83959SLC4A11Conflicting interpretations of pathogenicityrs190463957RCV000915136|RCV001139275|RCV001272053; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032118173211817CT20:g.3211817C>T-
NM_001174089.2(SLC4A11):c.992G>A (p.Arg331Gln)83959SLC4A11Conflicting interpretations of pathogenicityrs112163941RCV000880934|RCV001141891|RCV001273537; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032118453211845CT20:g.3211845C>T-
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp)83959SLC4A11Conflicting interpretations of pathogenicityrs138137682RCV000405160|RCV000887947|RCV001272054; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032118463211846GA20:g.3211846G>AClinGen:CA9742043
NM_001174089.2(SLC4A11):c.897G>A (p.Pro299=)83959SLC4A11Likely benignrs200760447RCV000944497|RCV001272055; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032120273212027CT20:g.3212027C>T-
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=)83959SLC4A11Conflicting interpretations of pathogenicityrs78860240RCV000354757|RCV000959281|RCV001272056; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032121593212159CT20:g.3212159C>TClinGen:CA9742121CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.735C>T (p.Ser245=)83959SLC4A11Likely benignrs150937996RCV000936369|RCV001272057; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032121893212189GA20:g.3212189G>A-
NM_001174089.2(SLC4A11):c.633G>A (p.Arg211=)83959SLC4A11Likely benignrs756221460RCV000928351|RCV001273538; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032142563214256CT20:g.3214256C>T-
NM_001174089.2(SLC4A11):c.589T>C (p.Ser197Pro)83959SLC4A11Pathogenicrs121909395RCV000001382; NMONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032145833214583AG20:g.3214583A>GClinGen:CA114922,OMIM:610206.0015C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.523+9G>A83959SLC4A11Conflicting interpretations of pathogenicityrs200962876RCV000265484|RCV000926403|RCV001272058; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032147203214720CT20:g.3214720C>TClinGen:CA9742260CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.501C>T (p.Ala167=)83959SLC4A11Likely benignrs749352950RCV000917297|RCV001272059; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032147513214751GA20:g.3214751G>A-
NM_001174089.2(SLC4A11):c.417_424GCTTCGCC[1] (p.Arg142fs)83959SLC4A11Pathogenicrs869320721RCV000001375; NMONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032148203214827TGGCGAAGCT20:g.3214820_3214827delClinGen:CA358681,OMIM:610206.0009C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=)83959SLC4A11Conflicting interpretations of pathogenicityrs35262978RCV000968766|RCV001137139|RCV001275546; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032148263214826GA20:g.3214826G>A-
NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser)83959SLC4A11Benignrs34520315RCV000953103|RCV001275547; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032148513214851TC20:g.3214851T>C-
NM_001174089.2(SLC4A11):c.390C>T (p.Thr130=)83959SLC4A11Uncertain significance-1RCV001279950; NMONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032148623214862GA20:g.3214862G>A-
NM_001174089.2(SLC4A11):c.384G>A (p.Thr128=)83959SLC4A11Likely benignrs761675091RCV000910095|RCV001272060; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032148683214868CT20:g.3214868C>T-
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=)83959SLC4A11Benignrs34460295RCV000254089|RCV000992994|RCV001137141|RCV001275548; NMedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032148953214895CT20:g.3214895C>TClinGen:CA9742320CN169374 not specified;
NM_001174089.2(SLC4A11):c.330G>A (p.Ala110=)83959SLC4A11Likely benignrs200345104RCV000981906|RCV001279951; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032149223214922CT20:g.3214922C>T-
NM_001174089.2(SLC4A11):c.242-5G>A83959SLC4A11Likely benignrs775424811RCV000913837|RCV001275549; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032152683215268CT20:g.3215268C>T-
NM_001174089.2(SLC4A11):c.78C>T (p.Phe26=)83959SLC4A11Likely benignrs35732230RCV000917604|RCV001275550; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032182003218200GA20:g.3218200G>A-
NM_001174089.2(SLC4A11):c.44-8C>G83959SLC4A11Benignrs146575952RCV000911940|RCV001275551; NMedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:14902032182423218242GC20:g.3218242G>C-
MSeqDR Portal