MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Hearing Loss, Sensorineural (D006319)
..Starting node ..Corneal dystrophy and perceptive deafness (C535473)
Child Nodes:
Sister Nodes:
..Acrootoocular Syndrome (C564866)
..Albinism ocular late onset sensorineural deafness (C537043)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Ataxia, Deafness, and Cardiomyopathy (C565932)
..Athabaskan brainstem dysgenesis (C535397)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Auditory Neuropathy, Nonsyndromic Recessive (C563398)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..BADS Syndrome (C562663)
..Barakat syndrome (C537907)
..Bartter Syndrome, Type 4A (C566530)
..Bartter Syndrome, Type 4b (C567762)
..Bjornstad syndrome (C537633) L: 00084;
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Brown-Vialetto-Van Laere syndrome (C537111)
..CAPOS syndrome (C535351)
..Cardiomyopathy, Dilated, 1J (C565337)
..Cataract ataxia deafness (C538283)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..Cerebellar Ataxia and Neurosensory Deafness (C565869)
..Cerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..Charcot-Marie-Tooth disease and deafness (C538078)
..Charcot-Marie-Tooth disease, Type 2J (C535417)
..Chitty Hall Baraitser syndrome (C535928)
..Chudley-Mccullough syndrome (C535459)
..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..Coloboma, cleft lip-palate and mental retardation syndrome (C535971)
..Congenital ectodermal dysplasia with hearing loss (C535757)
..Corneal dystrophy and perceptive deafness (C535473)
..Cowchock syndrome (C536450)
..Craniofacial deafness hand syndrome (C536453)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness enamel hypoplasia nail defects (C535994)
..Deafness oligodontia syndrome (C538049)
..Deafness, Aminoglycoside-Induced (C564013) L: 00051;
..Deafness, Autosomal Dominant 1 (C565121)
..Deafness, Autosomal Dominant 10 (C563354)
..Deafness, Autosomal Dominant 11 (C563353)
..Deafness, Autosomal Dominant 12 (C563295)
..Deafness, Autosomal Dominant 13 (C566612)
..Deafness, Autosomal Dominant 15 (C566545)
..Deafness, Autosomal Dominant 16 (C565832)
..Deafness, Autosomal Dominant 18 (C565267)
..Deafness, Autosomal Dominant 20 (C565754)
..Deafness, Autosomal Dominant 21 (C564634)
..Deafness, Autosomal Dominant 23 (C565357)
..Deafness, Autosomal Dominant 24 (C565239)
..Deafness, Autosomal Dominant 25 (C565319)
..Deafness, Autosomal Dominant 28 (C563890)
..Deafness, Autosomal Dominant 2A (C567441)
..Deafness, Autosomal Dominant 2B (C567214)
..Deafness, Autosomal Dominant 30 (C564706)
..Deafness, Autosomal Dominant 31 (C563888)
..Deafness, Autosomal Dominant 36 (C564675)
..Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..Deafness, Autosomal Dominant 3A (C567277)
..Deafness, Autosomal Dominant 3B (C567215)
..Deafness, Autosomal Dominant 4 (C563460)
..Deafness, Autosomal Dominant 41 (C564272)
..Deafness, Autosomal Dominant 43 (C564246)
..Deafness, Autosomal Dominant 44 (C564399)
..Deafness, Autosomal Dominant 47 (C563885)
..Deafness, Autosomal Dominant 48 (C564322)
..Deafness, Autosomal Dominant 49 (C564250)
..Deafness, Autosomal Dominant 5 (C563410)
..Deafness, Autosomal Dominant 52 (C564348)
..Deafness, Autosomal Dominant 53 (C566495)
..Deafness, Autosomal Dominant 59 (C567216)
..Deafness, Autosomal Dominant 6 (C563421)
..Deafness, Autosomal Dominant 7 (C563321)
..Deafness, Autosomal Dominant 9 (C563335)
..Deafness, autosomal dominant nonsyndromic sensorineural 17 (C538050)
..Deafness, autosomal dominant nonsyndromic sensorineural 22 (C538197)
..Deafness, autosomal dominant nonsyndromic sensorineural 23 (C538198)
..Deafness, autosomal dominant nonsyndromic sensorineural 24 (C538199)
..Deafness, Autosomal Recessive (C564609)
..Deafness, Autosomal Recessive 10 (C565341) 1
..Deafness, Autosomal Recessive 12 (C563327)
..Deafness, Autosomal Recessive 13 (C566410)
..Deafness, Autosomal Recessive 14 (C566344)
..Deafness, Autosomal Recessive 15 (C566611)
..Deafness, Autosomal Recessive 16 (C566339)
..Deafness, Autosomal Recessive 17 (C566418)
..Deafness, Autosomal Recessive 18 (C566580) 1
..Deafness, Autosomal Recessive 1A (C567134) L: 00489;
..Deafness, Autosomal Recessive 1b (C567213)
..Deafness, Autosomal Recessive 2 (C564007)
..Deafness, Autosomal Recessive 20 (C565828)
..Deafness, Autosomal Recessive 21 (C566353)
..Deafness, Autosomal Recessive 22 (C564633)
..Deafness, Autosomal Recessive 23 (C563705)
..Deafness, Autosomal Recessive 26 (C565329)
..Deafness, Autosomal Recessive 27 (C565287)
..Deafness, Autosomal Recessive 28 (C565218)
..Deafness, Autosomal Recessive 3 (C563961)
..Deafness, Autosomal Recessive 30 (C564624)
..Deafness, Autosomal Recessive 31 (C564629)
..Deafness, Autosomal Recessive 32 (C563884)
..Deafness, Autosomal Recessive 33 (C564602)
..Deafness, Autosomal Recessive 35 (C563908)
..Deafness, Autosomal Recessive 36 (C563815)
..Deafness, Autosomal Recessive 37 (C564331)
..Deafness, Autosomal Recessive 38 (C564273)
..Deafness, Autosomal Recessive 39 (C564265)
..Deafness, Autosomal Recessive 4 (C566366)
..Deafness, Autosomal Recessive 40 (C564266)
..Deafness, Autosomal Recessive 42 (C566460)
..Deafness, Autosomal Recessive 44 (C565716)
..Deafness, Autosomal Recessive 46 (C566459)
..Deafness, Autosomal Recessive 47 (C566498)
..Deafness, Autosomal Recessive 48 (C563720)
..Deafness, Autosomal Recessive 49 (C565717)
..Deafness, Autosomal Recessive 5 (C563444)
..Deafness, Autosomal Recessive 53 (C566453)
..Deafness, Autosomal Recessive 59 (C565698)
..Deafness, Autosomal Recessive 6 (C563418)
..Deafness, Autosomal Recessive 62 (C565719)
..Deafness, Autosomal Recessive 63 (C566951)
..Deafness, Autosomal Recessive 65 (C565211)
..Deafness, Autosomal Recessive 66 (C565701)
..Deafness, Autosomal Recessive 67 (C565207)
..Deafness, Autosomal Recessive 68 (C563669)
..Deafness, Autosomal Recessive 7 (C563417)
..Deafness, Autosomal Recessive 71 (C567562)
..Deafness, Autosomal Recessive 77 (C567543)
..Deafness, Autosomal Recessive 79 (C567651)
..Deafness, Autosomal Recessive 9 (C563396)
..Deafness, Autosomal Recessive, 24 (C567027)
..Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 (C563395) 1
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Deafness, Congenital, with Total Albinism (C565646)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, Mid-Tone Neural (C565122)
..Deafness, Progressive High-Tone Neural (C562423)
..Deafness, Sensorineural, And Male Infertility (C567010)
..Deafness, Sensorineural, Autosomal-Mitochondrial Type (C565637) L: 00159;
..Deafness, Sensorineural, with Hypertrophic Cardiomyopathy (C565236)
..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Digitorenocerebral Syndrome (C563052)
..Donnai-Barrow syndrome (C536390)
..Ectodermal Dysplasia and Neurosensory Deafness (C565606)
..Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..Ermine phenotype (C535508)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Flynn Aird syndrome (C537066)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..Gemignani syndrome (C537678)
..Gonadal dysgenesis XX type deafness (C537286) 1
..Griscelli syndrome type 1 (C537301)
..Hearing Loss, Central (D006313) 16 C:1
..Hearing Loss, Noise-Induced (D006317)
..HID Syndrome (C566528)
..Histiocytosis with joint contractures and sensorineural deafness (C538322)
..Hittner Hirsch Kreh syndrome (C538323)
..Homozygous 11p15-p14 Deletion Syndrome (C564701)
..Insulin-Like Growth Factor I Deficiency (C563867)
..Johanson Blizzard syndrome (C535880)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..Macrothrombocytopenia progressive deafness (C537831)
..Marshall syndrome (C536025)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MYH9-Related Disorders (C535507)
..Nephropathy deafness hyperparathyroidism (C536401)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Nephropathy, Progressive, with Deafness (C563713)
..Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
..Nonsyndromic sensorineural hearing loss (C537845)
..Optic atrophy 1 and deafness (C537124) L: 00657;
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Otodental Dysplasia (C563482)
..Otofacioosseous-Gonadal Syndrome (C566597)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..Palmoplantar Keratoderma with Deafness (C536152)
..Paragangliomas with Sensorineural Hearing Loss (C566831)
..Pendred syndrome (C536648)
..Pfeiffer Kapferer syndrome (C537887)
..Presbycusis (D011304) 2
..Progressive hearing loss stapes fixation (C536424)
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
..Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Robinson Miller Bensimon syndrome (C535864)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Schaap Taylor Baraitser syndrome (C536626)
..Sensorineural Deafness With Mild Renal Dysfunction (C567544)
..Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth (C566560)
..SeSAME syndrome (C557674)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Split-Hand-Foot Malformation With Sensorineural Hearing Loss (C565647)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Stickler syndrome, type 1 (C537492)
..STICKLER SYNDROME, TYPE IV (OMIM:614134)
..STICKLER SYNDROME, TYPE V (OMIM:614284)
..Thiamine responsive megaloblastic anemia syndrome (C536510)
..Townes-Brocks syndrome (C536974)
..Townes-Brocks-Branchiootorenal-Like Syndrome (C566272)
..Treft Sanborn Carey syndrome (C536544)
..Tunglang Savage Bellman syndrome (C536927)
..Usher Syndromes (D052245) 19 L: 00160;
..Vohwinkel syndrome (C536457)
..Winkelman Bethge Pfeiffer syndrome (C536710)
..Wolfram Syndrome 2 (C565733) L: 00490;
..Wolfram 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 :
Genes: SLC4A11;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001131	Corneal dystrophy
3	HP:0007759	Opacification of the corneal stroma
4	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001174089.2(SLC4A11):c.2610C>T (p.Asp870=)	83959	SLC4A11	Benign	76962118	RCV001273523\|RCV000948020;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MedGen:C3661900	20	3208451	3208451	20:g.3208451G>A	-
NM_001174089.2(SLC4A11):c.2559-5C>T	83959	SLC4A11	Likely benign	561993804	RCV000928076\|RCV001276998;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3208507	3208507	20:g.3208507G>A	-
NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val)	83959	SLC4A11	Pathogenic	121909396	RCV000001378;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3208945	3208945	20:g.3208945T>C	ClinGen:CA114918,OMIM:610206.0016	C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)	83959	SLC4A11	Conflicting interpretations of pathogenicity	34224785	RCV001276999\|RCV000991066\|RCV002265913\|RCV001143497\|RCV000948021;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C00	20	3208967	3208967	20:g.3208967C>T	-
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)	83959	SLC4A11	Pathogenic/Likely pathogenic	121909394	RCV000001379\|RCV000595591\|RCV002490290;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MedGen:CN517202\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268,O	20	3208983	3208983	20:g.3208983A>G	ClinGen:CA114920,OMIM:610206.0012	C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=)	83959	SLC4A11	Benign/Likely benign	58757394	RCV000312772\|RCV000992993\|RCV001273524;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209012	3209012	20:g.3209012C>T	ClinGen:CA9741456	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2391T>G (p.Thr797=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	7262506	RCV000370133\|RCV000948022\|RCV001277000;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209072	3209072	NC_000020.10:g.3209072A>C	ClinGen:CA9741466	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2389-8G>A	83959	SLC4A11	Likely benign	762782747	RCV001481066\|RCV001826313;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209082	3209082	3209082	-
NM_001174089.2(SLC4A11):c.2389-9C>T	83959	SLC4A11	Benign	41281858	RCV000250950\|RCV000405544\|RCV001514106\|RCV001543184\|RCV001543185;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,	20	3209083	3209083	NC_000020.10:g.3209083G>A	ClinGen:CA9741469	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2388+7G>A	83959	SLC4A11	Conflicting interpretations of pathogenicity	117959552	RCV000919591\|RCV001277001\|RCV001143498;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	20	3209151	3209151	20:g.3209151C>T	-
NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	199634796	RCV001136920\|RCV001279947\|RCV001446144;	N	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:1490\|MedGen:C3661900	20	3209206	3209206	20:g.3209206G>A	-
NM_001174089.2(SLC4A11):c.2331C>A (p.Leu777=)	83959	SLC4A11	Likely benign	1568527712	RCV000977888\|RCV001277002;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209215	3209215	20:g.3209215G>T	-
NM_001174089.2(SLC4A11):c.2292C>T (p.Pro764=)	83959	SLC4A11	Benign	139086376	RCV000962785\|RCV001273525;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209254	3209254	20:g.3209254G>A	-
NM_001174089.2(SLC4A11):c.2277G>A (p.Pro759=)	83959	SLC4A11	Likely benign	373053580	RCV001451603\|RCV001832584;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209269	3209269	3209269	-
NM_001174089.2(SLC4A11):c.2253G>C (p.Leu751=)	83959	SLC4A11	Likely benign	766549806	RCV000915096\|RCV001825837;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209293	3209293	20:g.3209293C>G	-
NM_001174089.2(SLC4A11):c.2238C>T (p.Ser746=)	83959	SLC4A11	Likely benign	377076488	RCV000928880\|RCV001836020;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209308	3209308	20:g.3209308G>A	-
NM_001174089.2(SLC4A11):c.2232C>T (p.Gly744=)	83959	SLC4A11	Likely benign	758751670	RCV000944685\|RCV001827025;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209314	3209314	20:g.3209314G>A	-
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	200879869	RCV000272119\|RCV000921591\|RCV001277003\|RCV003258776;	N	Human 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:1490\|MeSH:D030342,MedGen:C0950123	20	3209320	3209320	NC_000020.10:g.3209320C>T	ClinGen:CA9741522	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2215C>T (p.Arg739Trp)	83959	SLC4A11	Pathogenic	757553189	RCV000804411\|RCV001825591;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209331	3209331	20:g.3209331G>A	-
NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	149912717	RCV000329568\|RCV000973614\|RCV001277004;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209353	3209353	NC_000020.10:g.3209353C>G	ClinGen:CA9741529	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2193-4G>A	83959	SLC4A11	Benign	10048856	RCV000358562\|RCV000992992\|RCV001273526;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209357	3209357	20:g.3209357C>T	ClinGen:CA9741530	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2193-18C>T	83959	SLC4A11	Benign	2281575	RCV000246225\|RCV001808714\|RCV002058368\|RCV001808713;	N	MedGen:CN169374\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MedGen:C3661900\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3209371	3209371	20:g.3209371G>A	ClinGen:CA9741542	CN169374 not specified;
NM_001174089.2(SLC4A11):c.2192+1G>A	83959	SLC4A11	Pathogenic/Likely pathogenic	759540763	RCV001060766\|RCV002497443\|RCV003334395;	N	MedGen:CN517202\|MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974; MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,	20	3209483	3209483	20:g.3209483C>T	-
NM_001174089.2(SLC4A11):c.2185_2192dup (p.Ile732fs)	83959	SLC4A11	Pathogenic	764217666	RCV001870293\|RCV002307772;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209483	3209484	3209483	OMIM:610206.0013
NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=)	83959	SLC4A11	Likely benign	1600561128	RCV000932191\|RCV001277005;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209492	3209492	20:g.3209492G>A	-
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)	83959	SLC4A11	Uncertain significance	143965185	RCV000992991\|RCV001139166\|RCV001273527\|RCV002505507;	N	MedGen:C3661900\|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:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orph	20	3209500	3209500	20:g.3209500C>T	-
NM_001174089.2(SLC4A11):c.2175C>T (p.Asn725=)	83959	SLC4A11	Likely benign	372681319	RCV000931090\|RCV001279948;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209501	3209501	20:g.3209501G>A	-
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)	83959	SLC4A11	Pathogenic	772409032	RCV001235975\|RCV001828876\|RCV002484292\|RCV003398991;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268,O	20	3209536	3209536	20:g.3209536G>A	-
NM_001174089.2(SLC4A11):c.2136C>T (p.His712=)	83959	SLC4A11	Likely benign	368894887	RCV001430115\|RCV001836401;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209540	3209540	3209540	-
NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=)	83959	SLC4A11	Likely benign	201982813	RCV000945147\|RCV001277006;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209603	3209603	20:g.3209603G>A	-
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr)	83959	SLC4A11	Likely pathogenic	748362724	RCV000625921;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209614	3209614	20:g.3209614C>T	ClinGen:CA9741595	C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	140461431	RCV000903467\|RCV001139167\|RCV001273528;	N	MedGen:C3661900\|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:1490	20	3209615	3209615	20:g.3209615G>A	-
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	141079217	RCV000266258\|RCV000931846\|RCV001272044;	N	Human 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:1490	20	3209618	3209618	NC_000020.10:g.3209618G>C	ClinGen:CA9741597	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2018+7A>G	83959	SLC4A11	Likely benign	753806855	RCV000948023\|RCV001832193;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209734	3209734	20:g.3209734T>C	-
NM_001174089.2(SLC4A11):c.1992C>T (p.Ala664=)	83959	SLC4A11	Likely benign	146674129	RCV001426146\|RCV001831479;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209767	3209767	3209767	-
NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	140234175	RCV000924706\|RCV001139170\|RCV001272045;	N	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:1490	20	3209800	3209800	20:g.3209800G>T	-
NM_001174089.2(SLC4A11):c.1926C>T (p.Val642=)	83959	SLC4A11	Likely benign	755545377	RCV000977160\|RCV001832239;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209833	3209833	20:g.3209833G>A	-
NM_001174089.2(SLC4A11):c.1911G>A (p.Leu637=)	83959	SLC4A11	Likely benign	771516809	RCV000978811\|RCV001827087;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3209848	3209848	20:g.3209848C>T	-
NM_001174089.2(SLC4A11):c.1890G>A (p.Ala630=)	83959	SLC4A11	Likely benign	376848818	RCV000901319\|RCV001141790\|RCV001830966;	N	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:1490	20	3209869	3209869	20:g.3209869C>T	-
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)	83959	SLC4A11	Uncertain significance	751797233	RCV000279308\|RCV002487495;	N	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:1490; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974; MONDO	20	3209897	3209897	NC_000020.10:g.3209897C>T	ClinGen:CA9741679	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)	83959	SLC4A11	Conflicting interpretations of pathogenicity	138262189	RCV001141792\|RCV001844269\|RCV002480528\|RCV002559374;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN169374\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orph	20	3210034	3210034	20:g.3210034C>T	-
NM_001174089.2(SLC4A11):c.1785C>T (p.Cys595=)	83959	SLC4A11	Benign	201613216	RCV000906881\|RCV001273529;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210056	3210056	20:g.3210056G>A	-
NM_001174089.2(SLC4A11):c.1782C>T (p.Asp594=)	83959	SLC4A11	Uncertain significance	2067673861	RCV001279949;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210059	3210059	20:g.3210059G>A	-
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	62208067	RCV000903821\|RCV001141793\|RCV001273530;	N	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:1490	20	3210062	3210062	20:g.3210062G>A	-
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter)	83959	SLC4A11	Pathogenic	121909390	RCV000001370\|RCV000815081\|RCV001273531;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210076	3210076	NC_000020.10:g.3210076G>A	ClinGen:CA250439,OMIM:610206.0004	C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	144123179	RCV000959603\|RCV001143595\|RCV001273532;	N	MedGen:C3661900\|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:1490	20	3210190	3210190	20:g.3210190G>C	-
NM_001174089.2(SLC4A11):c.1707C>G (p.Leu569=)	83959	SLC4A11	Likely benign	754759954	RCV001432027\|RCV001831488;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210205	3210205	3210205	-
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	147324566	RCV000942114\|RCV001143596\|RCV001273533;	N	MedGen:C3661900\|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:1490	20	3210208	3210208	20:g.3210208C>T	-
NM_001174089.2(SLC4A11):c.1671C>T (p.Thr557=)	83959	SLC4A11	Likely benign	370182539	RCV000930156\|RCV001826946;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210241	3210241	20:g.3210241G>A	-
NM_001174089.2(SLC4A11):c.1658C>A (p.Ser553Ter)	83959	SLC4A11	Pathogenic	1311747266	RCV001542618\|RCV002032537;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MedGen:C3661900	20	3210254	3210254	3210254	-
NM_001174089.2(SLC4A11):c.1635G>A (p.Thr545=)	83959	SLC4A11	Likely benign	201133609	RCV000896463\|RCV001272046;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210277	3210277	20:g.3210277C>T	-
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)	83959	SLC4A11	Uncertain significance	755379986	RCV001143598\|RCV002505717;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MOND	20	3210278	3210278	20:g.3210278G>A	-
NM_001174089.2(SLC4A11):c.1623C>T (p.Leu541=)	83959	SLC4A11	Likely benign	749478923	RCV001463312\|RCV001826293;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210289	3210289	3210289	-
NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=)	83959	SLC4A11	Benign	41281860	RCV000254477\|RCV000375014\|RCV001516713\|RCV001543186\|RCV001543187;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,	20	3210301	3210301	NC_000020.10:g.3210301G>A	ClinGen:CA9741780	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1578C>T (p.Ala526=)	83959	SLC4A11	Likely benign	1247924686	RCV000977653\|RCV001836047;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210334	3210334	20:g.3210334G>A	-
NM_001174089.2(SLC4A11):c.1575C>T (p.Gly525=)	83959	SLC4A11	Likely benign	367716152	RCV001493657\|RCV001832646;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210337	3210337	3210337	-
NM_001174089.2(SLC4A11):c.1572C>T (p.Leu524=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	201595005	RCV000291917\|RCV000879502\|RCV001272047;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210340	3210340	NC_000020.10:g.3210340G>A	ClinGen:CA9741790	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1524C>T (p.Asp508=)	83959	SLC4A11	Likely benign	747443468	RCV000977314\|RCV001832244;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210388	3210388	20:g.3210388G>A	-
NM_001174089.2(SLC4A11):c.1503C>T (p.Tyr501=)	83959	SLC4A11	Likely benign	762726449	RCV000943885\|RCV001827011;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210409	3210409	20:g.3210409G>A	-
NM_001174089.2(SLC4A11):c.1490-2A>G	83959	SLC4A11	Likely pathogenic	1430176022	RCV001059251\|RCV001827376;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210424	3210424	20:g.3210424T>C	-
NM_001174089.2(SLC4A11):c.1489+141T>C	83959	SLC4A11	Benign	6139039	RCV001543189\|RCV001543188;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210692	3210692	3210692	-
NM_001174089.2(SLC4A11):c.1489+8C>T	83959	SLC4A11	Conflicting interpretations of pathogenicity	760670114	RCV000346818\|RCV000901320\|RCV001272048;	N	Human 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:1490	20	3210825	3210825	NC_000020.10:g.3210825G>A	ClinGen:CA9741833	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1419G>A (p.Ser473=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	149866580	RCV000382721\|RCV000925375\|RCV001272049;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210903	3210903	NC_000020.10:g.3210903C>T	ClinGen:CA9741846	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1416-1G>C	83959	SLC4A11	Likely pathogenic	2067710234	RCV001208119\|RCV001828666;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3210907	3210907	20:g.3210907C>G	-
NM_001174089.2(SLC4A11):c.1415+97T>G	83959	SLC4A11	Benign	3810561	RCV001543227\|RCV001543228;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3211064	3211064	3211064	-
NM_001174089.2(SLC4A11):c.1415G>A (p.Arg472Lys)	83959	SLC4A11	Pathogenic	121909393	RCV000001377;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3211161	3211161	20:g.3211161C>T	ClinGen:CA114916,OMIM:610206.0011	C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.1368G>A (p.Ala456=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	368001060	RCV000934973\|RCV001137023\|RCV001826973;	N	MedGen:C3661900\|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:1490	20	3211208	3211208	20:g.3211208C>T	-
NM_001174089.2(SLC4A11):c.1330_1333delinsA (p.Tyr444_Ala445delinsThr)	83959	SLC4A11	Pathogenic	869320722	RCV000001376;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3211243	3211246	NC_000020.10:g.3211243_3211246delinsT	ClinGen:CA354211,OMIM:610206.0010	C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.1323C>T (p.Asn441=)	83959	SLC4A11	Likely benign	575773766	RCV000940503\|RCV001826983;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3211253	3211253	20:g.3211253G>A	-
NM_001174089.2(SLC4A11):c.1283-11C>T	83959	SLC4A11	Benign	41281862	RCV000253140\|RCV000352538\|RCV001543232\|RCV001543231\|RCV002058367;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Or	20	3211304	3211304	NC_000020.10:g.3211304G>A	ClinGen:CA9741898	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1282+1G>A	83959	SLC4A11	Pathogenic/Likely pathogenic	776659347	RCV001941579\|RCV002509728;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3211377	3211377	3211377	-
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg)	83959	SLC4A11	Likely pathogenic	1233324021	RCV001379507\|RCV002488197;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974	20	3211459	3211459	3211459	-
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)	83959	SLC4A11	Likely pathogenic	1233324021	RCV001379449\|RCV001779160\|RCV002488196;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268,O	20	3211459	3211459	3211459	-
NM_001174089.2(SLC4A11):c.1188C>T (p.Ala396=)	83959	SLC4A11	Likely benign	780280857	RCV000931929\|RCV001832119;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3211472	3211472	20:g.3211472G>A	-
NM_001174089.2(SLC4A11):c.1168+10T>G	83959	SLC4A11	Likely benign	1439498080	RCV000903092\|RCV001272050;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3211569	3211569	20:g.3211569A>C	-
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	78274653	RCV000403119\|RCV000913274\|RCV001272051;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3211580	3211580	NC_000020.10:g.3211580G>A	ClinGen:CA9741976	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1158C>T (p.Asp386=)	83959	SLC4A11	Likely benign	764910925	RCV000928710\|RCV001272052;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3211589	3211589	20:g.3211589G>A	-
NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	139297339	RCV000971084\|RCV001139272\|RCV001273534;	N	MedGen:C3661900\|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:1490	20	3211616	3211616	20:g.3211616G>A	-
NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter)	83959	SLC4A11	Pathogenic	1363770105	RCV000825571\|RCV001835982\|RCV001858402;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MedGen:CN517202	20	3211637	3211637	20:g.3211637G>T	-
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr)	83959	SLC4A11	Uncertain significance	370322948	RCV000992989\|RCV001139273\|RCV001273535\|RCV002550650;	N	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:1490\|MeSH:D030342,MedGen:C0950123	20	3211698	3211698	20:g.3211698A>G	-
NM_001174089.2(SLC4A11):c.1043-10C>T	83959	SLC4A11	Conflicting interpretations of pathogenicity	201799793	RCV000963528\|RCV001139274\|RCV001273536;	N	MedGen:C3661900\|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:1490	20	3211714	3211714	20:g.3211714G>A	-
NM_001174089.2(SLC4A11):c.1043-15A>C	83959	SLC4A11	Benign	3803953	RCV000248350\|RCV000348880\|RCV001543233\|RCV001543234\|RCV001683121;	N	MedGen:CN169374\|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:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orph	20	3211719	3211719	NC_000020.10:g.3211719T>G	ClinGen:CA9742010	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	190463957	RCV000915136\|RCV001139275\|RCV001272053;	N	MedGen:C3661900\|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:1490	20	3211817	3211817	20:g.3211817C>T	-
NM_001174089.2(SLC4A11):c.1002C>T (p.Ile334=)	83959	SLC4A11	Likely benign	200404341	RCV000931393\|RCV001826951;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3211835	3211835	20:g.3211835G>A	-
NM_001174089.2(SLC4A11):c.992G>A (p.Arg331Gln)	83959	SLC4A11	Conflicting interpretations of pathogenicity	112163941	RCV000880934\|RCV001273537\|RCV001141891;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	20	3211845	3211845	20:g.3211845C>T	-
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp)	83959	SLC4A11	Conflicting interpretations of pathogenicity	138137682	RCV000405160\|RCV000887947\|RCV001272054\|RCV001579134;	N	Human 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:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orph	20	3211846	3211846	NC_000020.10:g.3211846G>A	ClinGen:CA9742043	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.903G>A (p.Thr301=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	193080010	RCV000914136\|RCV001141892\|RCV001825835;	N	MedGen:C3661900\|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:1490	20	3212021	3212021	20:g.3212021C>T	-
NM_001174089.2(SLC4A11):c.897G>A (p.Pro299=)	83959	SLC4A11	Likely benign	200760447	RCV000944497\|RCV001272055;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3212027	3212027	20:g.3212027C>T	-
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val)	83959	SLC4A11	Conflicting interpretations of pathogenicity	141705330	RCV000299854\|RCV000513030\|RCV001287969\|RCV001828336;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3212031	3212031	NC_000020.10:g.3212031G>A	ClinGen:CA9742103	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.882C>T (p.His294=)	83959	SLC4A11	Likely benign	973038358	RCV000927928\|RCV001832098;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3212042	3212042	20:g.3212042G>A	-
NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	367721824	RCV000904133\|RCV001141894\|RCV001832033;	N	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:1490	20	3212135	3212135	20:g.3212135G>A	-
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	78860240	RCV000354757\|RCV000959281\|RCV001272056;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3212159	3212159	20:g.3212159C>T	ClinGen:CA9742121	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.758C>T (p.Ala253Val)	83959	SLC4A11	Likely pathogenic	1298347142	RCV002013123\|RCV003120799;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3212166	3212166	3212166	-
NM_001174089.2(SLC4A11):c.735C>T (p.Ser245=)	83959	SLC4A11	Likely benign	150937996	RCV000936369\|RCV001272057;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3212189	3212189	20:g.3212189G>A	-
NM_001174089.2(SLC4A11):c.730-29_730-28insC	83959	SLC4A11	Benign	147477986	RCV001807841\|RCV001807840;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3212222	3212223	3212222	-
NM_001174089.2(SLC4A11):c.730-29T>A	83959	SLC4A11	Benign	573322136	RCV001543235\|RCV001543236;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3212223	3212223	3212223	-
NM_001174089.2(SLC4A11):c.730-31T>C	83959	SLC4A11	Benign	540847946	RCV001543237\|RCV001543238;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3212225	3212225	3212225	-
NM_001174089.2(SLC4A11):c.729+140C>A	83959	SLC4A11	Benign	2144771	RCV001543239\|RCV001543240;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3214020	3214020	3214020	-
NM_001174089.2(SLC4A11):c.729+34G>A	83959	SLC4A11	Benign	3803955	RCV001543241\|RCV001543242;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3214126	3214126	3214126	-
NM_001174089.2(SLC4A11):c.729+10T>C	83959	SLC4A11	Likely benign	372201212	RCV000901992\|RCV001832029;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214150	3214150	20:g.3214150A>G	-
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)	83959	SLC4A11	Uncertain significance	2122588507	RCV001910541\|RCV002484541;	N	MedGen:C3661900\|MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974; MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3214217	3214218	3214217	-
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)	83959	SLC4A11	Conflicting interpretations of pathogenicity	762942751	RCV001807973\|RCV003388050;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214240	3214240	3214240	-
NM_001174089.2(SLC4A11):c.633G>A (p.Arg211=)	83959	SLC4A11	Likely benign	756221460	RCV000928351\|RCV001273538;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214256	3214256	20:g.3214256C>T	-
NM_001174089.2(SLC4A11):c.590C>T (p.Ser197Leu)	83959	SLC4A11	Pathogenic	-1	RCV003317962;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214582	3214582		-
NM_001174089.2(SLC4A11):c.589T>C (p.Ser197Pro)	83959	SLC4A11	Pathogenic	121909395	RCV000001382;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214583	3214583	20:g.3214583A>G	ClinGen:CA114922,OMIM:610206.0015	C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.575del (p.Val192fs)	83959	SLC4A11	Pathogenic/Likely pathogenic	2067871973	RCV001941945\|RCV003155445;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214597	3214597	3214596	-
NM_001174089.2(SLC4A11):c.570_571del (p.Val192fs)	83959	SLC4A11	Pathogenic	762596098	RCV001232217\|RCV001834011;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214601	3214602	20:g.3214601_3214602del	-
NM_001174089.2(SLC4A11):c.523+9G>A	83959	SLC4A11	Conflicting interpretations of pathogenicity	200962876	RCV000265484\|RCV000926403\|RCV001272058;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214720	3214720	20:g.3214720C>T	ClinGen:CA9742260	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.501C>T (p.Ala167=)	83959	SLC4A11	Likely benign	749352950	RCV000917297\|RCV001272059;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214751	3214751	20:g.3214751G>A	-
NM_001174089.2(SLC4A11):c.495C>T (p.Thr165=)	83959	SLC4A11	Likely benign	148099705	RCV001465423\|RCV001832605;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214757	3214757	3214757	-
NM_001174089.2(SLC4A11):c.425_432del (p.Arg142fs)	83959	SLC4A11	Pathogenic	869320721	RCV000001375\|RCV001381401;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MedGen:CN517202	20	3214820	3214827	20:g.3214820_3214827del	ClinGen:CA358681,OMIM:610206.0009	C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	35262978	RCV000968766\|RCV001275546\|RCV001137139;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533	20	3214826	3214826	20:g.3214826G>A	-
NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser)	83959	SLC4A11	Benign	34520315	RCV000953103\|RCV001287971\|RCV001275547;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214851	3214851	20:g.3214851T>C	-
NM_001174089.2(SLC4A11):c.390C>T (p.Thr130=)	83959	SLC4A11	Likely benign	149548266	RCV001279950\|RCV001485291;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MedGen:CN517202	20	3214862	3214862	20:g.3214862G>A	-
NM_001174089.2(SLC4A11):c.384G>A (p.Thr128=)	83959	SLC4A11	Likely benign	761675091	RCV000910095\|RCV001272060;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214868	3214868	20:g.3214868C>T	-
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys)	83959	SLC4A11	Conflicting interpretations of pathogenicity	1482631297	RCV001379450\|RCV001731210\|RCV001826154;	N	MedGen:C3661900\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214873	3214873	3214873	-
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=)	83959	SLC4A11	Benign	34460295	RCV000254089\|RCV000992994\|RCV001137141\|RCV001275548;	N	MedGen:CN169374\|MedGen:C3661900\|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:1490	20	3214895	3214895	20:g.3214895C>T	ClinGen:CA9742320	CN169374 not specified;
NM_001174089.2(SLC4A11):c.330G>A (p.Ala110=)	83959	SLC4A11	Likely benign	200345104	RCV000981906\|RCV001279951;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214922	3214922	20:g.3214922C>T	-
NM_001174089.2(SLC4A11):c.292-86G>C	83959	SLC4A11	Benign	6139040	RCV001543283\|RCV001543284;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3215046	3215046	3215046	-
NM_001174089.2(SLC4A11):c.291+126G>A	83959	SLC4A11	Benign	6133022	RCV001543285\|RCV001543286;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3215088	3215088	3215088	-
NM_001174089.2(SLC4A11):c.286C>T (p.Arg96Ter)	83959	SLC4A11	Pathogenic	780346984	RCV001381402\|RCV001831379;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3215219	3215219	3215219	-
NM_001174089.2(SLC4A11):c.242-5G>A	83959	SLC4A11	Likely benign	775424811	RCV000913837\|RCV001275549;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3215268	3215268	20:g.3215268C>T	-
NM_001174089.2(SLC4A11):c.242-6C>T	83959	SLC4A11	Conflicting interpretations of pathogenicity	761855363	RCV000380732\|RCV001430086\|RCV001828337;	N	Human 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:1490	20	3215269	3215269	20:g.3215269G>A	ClinGen:CA9742376	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.120C>T (p.Phe40=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	577502313	RCV000295710\|RCV001394931\|RCV001828338;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3215509	3215509	20:g.3215509G>A	ClinGen:CA9742440	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.117C>T (p.Thr39=)	83959	SLC4A11	Likely benign	774713662	RCV001500681\|RCV001832657;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3215512	3215512	3215512	-
NM_001174089.2(SLC4A11):c.93C>G (p.Tyr31Ter)	83959	SLC4A11	Likely pathogenic	-1	RCV003226864;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3215536	3215536		-
NM_001174089.2(SLC4A11):c.88+201A>C	83959	SLC4A11	Benign	6037508	RCV001543289\|RCV001543290;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3217989	3217989	3217989	-
NM_001174089.2(SLC4A11):c.88+189G>A	83959	SLC4A11	Benign	4142381	RCV001543291\|RCV001543292;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3218001	3218001	3218001	-
NM_001174089.2(SLC4A11):c.78C>T (p.Phe26=)	83959	SLC4A11	Likely benign	35732230	RCV000917604\|RCV001275550;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3218200	3218200	20:g.3218200G>A	-
NM_001174089.2(SLC4A11):c.44-8C>G	83959	SLC4A11	Benign	146575952	RCV000911940\|RCV001275551;	N	MedGen:C3661900\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3218242	3218242	20:g.3218242G>C	-
NM_001174089.2(SLC4A11):c.44-35C>T	83959	SLC4A11	Likely benign	777764569	RCV000975334\|RCV001827064;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3218269	3218269	20:g.3218269G>A	-
NM_001174089.2(SLC4A11):c.44-73C>T	83959	SLC4A11	Conflicting interpretations of pathogenicity	200343026	RCV000976419\|RCV001141995\|RCV001832232;	N	MedGen:C3661900\|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:1490	20	3218307	3218307	20:g.3218307G>A	-
NM_001174089.2(SLC4A11):c.44-91A>G	83959	SLC4A11	Likely pathogenic	-1	RCV002283404;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3218325	3218325	3218325	-
NM_001174089.2(SLC4A11):c.44-121G>C	83959	SLC4A11	Benign	3827076	RCV000338145\|RCV001543293\|RCV001543294;	N	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:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3218355	3218355	NC_000020.10:g.3218355C>G	ClinGen:CA9742511	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.44-400C>G	83959	SLC4A11	Benign	3810562	RCV001543326\|RCV001543327\|RCV001779253;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:C3661900	20	3218634	3218634	3218634	-
NM_001400277.1(SLC4A11):c.-15+100T>C	83959	SLC4A11	Benign	6107260	RCV001543328\|RCV001543329;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3219894	3219894	3219894	-

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