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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)
..Starting node ..Corneal endothelial dystrophy type 2 (C536439)
Child Nodes:
Sister Nodes:
..Bietti Crystalline Dystrophy (C535440)
..Brachymesomelia renal syndrome (C537096)
..Chorioretinal atrophy, progressive bifocal (C535356)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Corneal cerebellar syndrome (C535472)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Corneal dystrophy and perceptive deafness (C535473)
..Corneal dystrophy Avellino type (C535474)
..Corneal dystrophy of Bowman layer, type 1 (C535476)
..Corneal Dystrophy, Band-Shaped (C562399)
..Corneal Dystrophy, Central Type (C563262)
..Corneal Dystrophy, Congenital Stromal (C566452)
..Corneal Dystrophy, Crystalline, of Schnyder (C535475)
..Corneal Dystrophy, Endothelial, X-Linked (C567587)
..Corneal Dystrophy, Fleck (C563256)
..Corneal dystrophy, gelatinous drop-like (C535480)
..Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..Corneal Dystrophy, Lattice Type IIIA (C563923)
..Corneal Dystrophy, Lisch Epithelial (C567588)
..Corneal Dystrophy, Posterior Amorphous (C567546)
..Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..Corneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..Corneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..Corneal Dystrophy, Subepithelial Mucinous (C567547)
..Corneal dystrophy, Thiel-Behnke type (C535942)
..Corneal Endothelial Dystrophy 1 (C565156)
..Corneal endothelial dystrophy type 2 (C536439)
..Corneodermatoosseous syndrome (C536444)
..Dermochondrocorneal dystrophy of Fran莽ois (C535375)
..EDICT SYNDROME (OMIM:614303)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..Epithelial Recurrent Erosion Dystrophy (C565155)
..Fuchs' Endothelial Dystrophy (D005642) 10
..Groenouw type I corneal dystrophy (C537304)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Judge Misch Wright syndrome (C537692)
..Kuster Majewski Hammerstein syndrome (C538125)
..Lattice corneal dystrophy type 1 (C537881)
..Macular Corneal Dystrophy, Type II (C563270)
..Macular dystrophy, corneal type 1 (C537834)
..Macular Dystrophy, Fenestrated Sheen Type (C563607)
..Macular dystrophy, retinal, 1, North Carolina type (C537835)
..Macular Dystrophy, Retinal, 2 (C562746)
..Meretoja syndrome (C537459)
..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..Mousa Al din Al Nassar syndrome (C536989)
..O'Donnell Pappas syndrome (C537858)
..Oculodental syndrome Rutherfurd syndrome (C537732)
..Pseudoinflammatory fundus dystrophy, Finnish type (C535828)
..Sammartino De Crecchio Syndrome (C537229)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Sveinsson Chorioretinal Atrophy (C566236)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3038

Name:

Corneal endothelial dystrophy type 2

Definition:

Alternative IDs:

OMIM:217700

ParentIDs:

MESH:D003317

TreeNumbers:

C11.204.236/C536439 |C11.270.162/C536439 |C16.320.290.162/C536439

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C536439
MeSH: C536439
OMIM: 217700;
MSeqDR :
Genes: SLC4A11;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008005	Congenital corneal dystrophy
3	HP:0007759	Opacification of the corneal stroma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_057088.3(KRT3):c.130_131delinsAC (p.Gly44Thr)	3850	KRT3	Uncertain significance	rs1939636114	RCV001293776;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	12	53189696	53189697	53189696	-
NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His)	83959	SLC4A11	Pathogenic	rs121909392	RCV000001374\|RCV001389004;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:CN517202	20	3208905	3208905	20:g.3208905C>T	ClinGen:CA250444,OMIM:610206.0008	C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)	83959	SLC4A11	Pathogenic	rs121909391	RCV000001372\|RCV001682704;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:CN517202	20	3208906	3208906	20:g.3208906G>A	ClinGen:CA250442,OMIM:610206.0006	C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)	83959	SLC4A11	Pathogenic/Likely pathogenic	rs121909394	RCV000001379\|RCV000595591\|RCV002490290;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|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,Or	20	3208983	3208983	20:g.3208983A>G	OMIM:610206.0012,ClinGen:CA114920	C1857572 217400 Corneal dystrophy and perceptive deafness;
NM_001174089.2(SLC4A11):c.2389-9C>T	83959	SLC4A11	Benign	rs41281858	RCV000250950\|RCV000405544\|RCV001543184\|RCV001543185\|RCV001514106;	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	3209083	3209083	NC_000020.10:g.3209083G>A	ClinGen:CA9741469	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.2366dup (p.Ala790fs)	83959	SLC4A11	Pathogenic	-1	RCV002293387;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3209179	3209180	3209179	-
NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln)	83959	SLC4A11	Pathogenic	rs121909387	RCV000001367\|RCV001851537;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:CN517202	20	3209330	3209330	20:g.3209330C>T	OMIM:610206.0001,ClinGen:CA250433	C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.2193-18C>T	83959	SLC4A11	Benign	rs2281575	RCV000246225\|RCV001808714\|RCV001808713\|RCV002058368;	N	MedGen:CN169374\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:CN517202	20	3209371	3209371	20:g.3209371G>A	ClinGen:CA9741542	CN169374 not specified;
NM_001174089.2(SLC4A11):c.2192+1G>A	83959	SLC4A11	Likely pathogenic	rs759540763	RCV001060766\|RCV002497443;	N	MedGen:CN517202\|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	3209483	3209483	20:g.3209483C>T	-
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)	83959	SLC4A11	Pathogenic	rs772409032	RCV001235975\|RCV001828876\|RCV002484292;	N	MedGen:CN517202\|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.2019-16_2019-6delinsGGCCGGCCGG	83959	SLC4A11	Pathogenic	rs869320617	RCV000001373;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3209663	3209673	20:g.3209664_3209673del	ClinGen:CA354154,OMIM:610206.0007	C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.2018+1G>A	83959	SLC4A11	Pathogenic	rs2067654837	RCV001283819;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3209740	3209740	3209740	-
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)	83959	SLC4A11	Conflicting interpretations of pathogenicity	rs138262189	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:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Or	20	3210034	3210034	20:g.3210034C>T	-
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter)	83959	SLC4A11	Pathogenic	rs121909390	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.1634C>T (p.Thr545Met)	83959	SLC4A11	Uncertain significance	rs755379986	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.1611C>T (p.Asn537=)	83959	SLC4A11	Benign	rs41281860	RCV000254477\|RCV000375014\|RCV001543186\|RCV001543187\|RCV001516713;	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	3210301	3210301	NC_000020.10:g.3210301G>A	ClinGen:CA9741780	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1489+141T>C	83959	SLC4A11	Benign	-1	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.1418C>T (p.Ser473Leu)	83959	SLC4A11	Likely pathogenic	rs121909388	RCV000001368\|RCV001851538;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:CN517202	20	3210904	3210904	20:g.3210904G>A	ClinGen:CA250435,OMIM:610206.0002	C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.1418C>G (p.Ser473Trp)	83959	SLC4A11	Pathogenic	-1	RCV002293386;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3210904	3210904	3210904	-
NM_001174089.2(SLC4A11):c.1415+97T>G	83959	SLC4A11	Benign	-1	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.1391G>T (p.Ser464Ile)	83959	SLC4A11	Uncertain significance	-1	RCV002293388;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3211185	3211185	3211185	-
NM_001174089.2(SLC4A11):c.1343G>A (p.Gly448Asp)	83959	SLC4A11	Pathogenic	rs121909389	RCV000001369;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3211233	3211233	20:g.3211233C>T	ClinGen:CA250437,OMIM:610206.0003	C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=)	83959	SLC4A11	Benign	rs6084312	RCV000248066\|RCV000288238\|RCV001516714\|RCV001543230\|RCV001543229;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009015,MedGen:C185757	20	3211235	3211235	NC_000020.10:g.3211235C>T	ClinGen:CA9741879	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.1283-11C>T	83959	SLC4A11	Benign	rs41281862	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.1201G>C (p.Gly401Arg)	83959	SLC4A11	Likely pathogenic	-1	RCV001379507\|RCV002488197;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3211459	3211459	3211459	-
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)	83959	SLC4A11	Likely pathogenic	-1	RCV001379449\|RCV001779160\|RCV002488196;	N	MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Or	20	3211459	3211459	3211459	-
NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter)	83959	SLC4A11	Pathogenic	rs1363770105	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.1043-15A>C	83959	SLC4A11	Benign	rs3803953	RCV000248350\|RCV000348880\|RCV001543234\|RCV001543233\|RCV001683121;	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	3211719	3211719	NC_000020.10:g.3211719T>G	ClinGen:CA9742010	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp)	83959	SLC4A11	Conflicting interpretations of pathogenicity	rs138137682	RCV000405160\|RCV000887947\|RCV001579134\|RCV001272054;	N	Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533\|MedGen:CN517202\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Or	20	3211846	3211846	NC_000020.10:g.3211846G>A	ClinGen:CA9742043	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.746C>T (p.Ala249Val)	83959	SLC4A11	Uncertain significance	-1	RCV001807933;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3212178	3212178	3212178	-
NM_001174089.2(SLC4A11):c.730-29_730-28insC	83959	SLC4A11	Benign	-1	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	-1	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	-1	RCV001543238\|RCV001543237;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3212225	3212225	3212225	-
NM_001174089.2(SLC4A11):c.729+140C>A	83959	SLC4A11	Benign	-1	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	-1	RCV001543242\|RCV001543241;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490	20	3214126	3214126	3214126	-
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)	83959	SLC4A11	Uncertain significance	-1	RCV001910541\|RCV002484541;	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	20	3214217	3214218	3214217	-
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)	83959	SLC4A11	Uncertain significance	-1	RCV001807973;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3214240	3214240	3214240	-
NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=)	83959	SLC4A11	Benign	rs3803956	RCV000250649\|RCV000360144\|RCV001543280\|RCV001517386\|RCV001543279;	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\|MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C185757	20	3214581	3214581	NC_000020.10:g.3214581C>T	ClinGen:CA9742223	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.425_433delinsC (p.Arg142fs)	83959	SLC4A11	Pathogenic	rs797045107	RCV000190625\|RCV002460964;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:CN517202	20	3214819	3214827	NC_000020.10:g.3214819_3214827delinsG	ClinGen:CA251305	C1857569 217700 Corneal endothelial dystrophy type 2;
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)	83959	SLC4A11	Conflicting interpretations of pathogenicity	rs3827075	RCV000245921\|RCV000384700\|RCV001543282\|RCV001516715\|RCV001543281;	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\|MedGen:CN517202\|MONDO:MONDO:0009015,MedGen:C185757	20	3214819	3214819	20:g.3214819T>G	ClinGen:CA9742290	CN239343 Corneal Dystrophy, Recessive;
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)	83959	SLC4A11	Uncertain significance	rs752287261	RCV000490343\|RCV002517443;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:CN517202	20	3214822	3214822	NC_000020.10:g.3214822C>T	ClinGen:CA9742292	C1857569 217700 Corneal endothelial dystrophy type 2;
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys)	83959	SLC4A11	Conflicting interpretations of pathogenicity	-1	RCV001379450\|RCV001731210\|RCV001826154;	N	MedGen:CN517202\|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.305_308del (p.Lys102fs)	83959	SLC4A11	Pathogenic	rs869320720	RCV000001371;	N	MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603	20	3214944	3214947	NC_000020.10:g.3214946_3214949del	ClinGen:CA358680,OMIM:610206.0005	C0544008 Corneal endothelial dystrophy;
NM_001174089.2(SLC4A11):c.292-86G>C	83959	SLC4A11	Benign	-1	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	-1	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.88+201A>C	83959	SLC4A11	Benign	-1	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	-1	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.44-121G>C	83959	SLC4A11	Benign	rs3827076	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	-1	RCV001543326\|RCV001543327\|RCV001779253;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603\|MedGen:CN517202	20	3218634	3218634	3218634	-
NM_001400277.1(SLC4A11):c.-15+100T>C	83959	SLC4A11	Benign	-1	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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