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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: Amyloidosis, Familial (D028226)
Parent Node: Corneal Dystrophies, Hereditary (D003317)
..Starting node ..Corneal dystrophy, gelatinous drop-like (C535480)
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:

3024

Name:

Corneal dystrophy, gelatinous drop-like

Definition:

Alternative IDs:

DO:DOID:0060449|OMIM:204870

ParentIDs:

MESH:D003317|MESH:D028226

TreeNumbers:

C11.204.236/C535480 |C11.270.162/C535480 |C16.320.290.162/C535480 |C16.320.565.176/C535480 |C18.452.648.176/C535480 |C18.452.845.500.075/C535480

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C535480
MeSH: C535480
OMIM: 204870;
MSeqDR :
Genes: TACSTD2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0000622	Blurred vision
4	HP:0001131	Corneal dystrophy
5	HP:0000613	Photophobia
6	HP:0007663	Reduced visual acuity
7	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002353.3(TACSTD2):c.*751C>A	4070	TACSTD2	Likely benign	570481691	RCV000391924;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041106	59041106	NC_000001.10:g.59041106G>T	ClinGen:CA10610205	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*656T>A	4070	TACSTD2	Uncertain significance	181590097	RCV000351771;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041201	59041201	NC_000001.10:g.59041201A>T	ClinGen:CA10610541	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*645T>C	4070	TACSTD2	Uncertain significance	1570021538	RCV001097968;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041212	59041212	1:g.59041212A>G	-
NM_002353.3(TACSTD2):c.*637G>A	4070	TACSTD2	Benign	7333	RCV000391954;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041220	59041220	NC_000001.10:g.59041220C>T	ClinGen:CA10611304	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*565G>T	4070	TACSTD2	Benign	528472691	RCV000297883;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041292	59041292	NC_000001.10:g.59041292C>A	ClinGen:CA10610545	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*421A>G	4070	TACSTD2	Benign	9583	RCV000355047;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041436	59041436	NC_000001.10:g.59041436T>C	ClinGen:CA10611306	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*396T>C	4070	TACSTD2	Likely benign	41313365	RCV000404000;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041461	59041461	NC_000001.10:g.59041461A>G	ClinGen:CA10611307	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*298A>C	4070	TACSTD2	Uncertain significance	866363830	RCV001099759;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041559	59041559	1:g.59041559T>G	-
NM_002353.3(TACSTD2):c.*281A>C	4070	TACSTD2	Uncertain significance	181672295	RCV001099760;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041576	59041576	1:g.59041576T>G	-
NM_002353.3(TACSTD2):c.*280T>C	4070	TACSTD2	Benign	3551	RCV000301250;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041577	59041577	NC_000001.10:g.59041577A>G	ClinGen:CA10610547	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*236C>G	4070	TACSTD2	Uncertain significance	1646876980	RCV001099761;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041621	59041621	1:g.59041621G>C	-
NM_002353.3(TACSTD2):c.*226C>A	4070	TACSTD2	Benign	80012655	RCV000358424;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041631	59041631	NC_000001.10:g.59041631G>T	ClinGen:CA10610206	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*202A>G	4070	TACSTD2	Benign	41313363	RCV000265932;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041655	59041655	NC_000001.10:g.59041655T>C	ClinGen:CA10611308	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*166C>T	4070	TACSTD2	Benign	7355042	RCV000323278;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041691	59041691	NC_000001.10:g.59041691G>A	ClinGen:CA10610207	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*98C>T	4070	TACSTD2	Likely benign	72672295	RCV000361804;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041759	59041759	NC_000001.10:g.59041759G>A	ClinGen:CA10611309	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*94G>A	4070	TACSTD2	Uncertain significance	182546579	RCV000269522;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041763	59041763	NC_000001.10:g.59041763C>T	ClinGen:CA10611428	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*59A>C	4070	TACSTD2	Uncertain significance	886046456	RCV000326663;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041798	59041798	NC_000001.10:g.59041798T>G	ClinGen:CA10611430	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*48G>A	4070	TACSTD2	Benign	41311174	RCV000383611;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041809	59041809	NC_000001.10:g.59041809C>T	ClinGen:CA877277	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.*6C>T	4070	TACSTD2	Uncertain significance	749221434	RCV001101743;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59041851	59041851	1:g.59041851G>A	-
NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln)	4070	TACSTD2	Conflicting interpretations of pathogenicity	142263208	RCV001096328\|RCV002554894;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957\|MeSH:D030342,MedGen:C0950123	1	59041930	59041930	1:g.59041930C>T	-
NM_002353.3(TACSTD2):c.889A>G (p.Ile297Val)	4070	TACSTD2	Benign	114373153	RCV000291782\|RCV000958457;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957\|MedGen:C3661900	1	59041940	59041940	NC_000001.10:g.59041940T>C	ClinGen:CA877308	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.828C>T (p.Gly276=)	4070	TACSTD2	Benign	12121124	RCV000330312\|RCV002520500;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957\|MedGen:C3661900	1	59042001	59042001	NC_000001.10:g.59042001G>A	ClinGen:CA877322	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.827G>A (p.Gly276Asp)	4070	TACSTD2	Uncertain significance	769179472	RCV000386862\|RCV003165807;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957\|MeSH:D030342,MedGen:C0950123	1	59042002	59042002	NC_000001.10:g.59042002C>T	ClinGen:CA877323	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.772_783delinsT (p.Leu257_Ile258insTer)	4070	TACSTD2	Pathogenic	-1	RCV000017572;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042046	59042057	59042046	OMIM:137290.0007
NM_002353.3(TACSTD2):c.762G>A (p.Glu254=)	4070	TACSTD2	Likely benign	144787622	RCV000294915;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042067	59042067	NC_000001.10:g.59042067C>T	ClinGen:CA877338	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.735C>T (p.Arg245=)	4070	TACSTD2	Conflicting interpretations of pathogenicity	145491347	RCV000887978\|RCV001096329;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042094	59042094	1:g.59042094G>A	-
NM_002353.3(TACSTD2):c.720C>A (p.Gly240=)	4070	TACSTD2	Uncertain significance	762401640	RCV001096330;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042109	59042109	1:g.59042109G>T	-
NM_002353.3(TACSTD2):c.653del (p.Asp218fs)	4070	TACSTD2	Pathogenic	780819073	RCV002460351;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042176	59042176	59042175	-
NM_002353.3(TACSTD2):c.648C>A (p.Asp216Glu)	4070	TACSTD2	Benign	14008	RCV000352006\|RCV002059489;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957\|MedGen:C3661900	1	59042181	59042181	NC_000001.10:g.59042181G>T	ClinGen:CA877376,UniProtKB:P09758#VAR_016981	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.632del (p.Gln211fs)	4070	TACSTD2	Pathogenic	1569579635	RCV000017569;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042197	59042197	1:g.59042197_59042197del	OMIM:137290.0004	C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.619C>T (p.Gln207Ter)	4070	TACSTD2	Pathogenic	80358224	RCV000017567;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042210	59042210	1:g.59042210G>A	ClinGen:CA126246,OMIM:137290.0002	C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro)	4070	TACSTD2	Pathogenic	80358228	RCV000017573;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042272	59042272	1:g.59042272A>G	ClinGen:CA126254,OMIM:137290.0008	C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.518A>C (p.Asp173Ala)	4070	TACSTD2	Benign	35075952	RCV000398744\|RCV002522133;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957\|MedGen:C3661900	1	59042311	59042311	NC_000001.10:g.59042311T>G	ClinGen:CA877410,UniProtKB:P09758#VAR_012451	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.509C>A (p.Ser170Ter)	4070	TACSTD2	Pathogenic	80358225	RCV000017568;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042320	59042320	1:g.59042320G>T	ClinGen:CA126248,OMIM:137290.0003	C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.441G>C (p.Glu147Asp)	4070	TACSTD2	Benign	1062964	RCV000279707\|RCV002522134;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957\|MedGen:C3661900	1	59042388	59042388	NC_000001.10:g.59042388C>G	ClinGen:CA877427,UniProtKB:P09758#VAR_051407	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.355T>A (p.Cys119Ser)	4070	TACSTD2	Pathogenic	80358227	RCV000017571;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042474	59042474	1:g.59042474A>T	ClinGen:CA126252,OMIM:137290.0006	C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.352C>T (p.Gln118Ter)	4070	TACSTD2	Pathogenic	80358223	RCV000017566;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042477	59042477	1:g.59042477G>A	ClinGen:CA126244,OMIM:137290.0001	C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.257C>G (p.Ala86Gly)	4070	TACSTD2	Conflicting interpretations of pathogenicity	772658288	RCV000337050\|RCV002520501;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957\|MeSH:D030342,MedGen:C0950123	1	59042572	59042572	NC_000001.10:g.59042572G>C	ClinGen:CA877462	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.175G>A (p.Gly59Ser)	4070	TACSTD2	Uncertain significance	777212159	RCV000393938\|RCV002520502;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957\|MeSH:D030342,MedGen:C0950123	1	59042654	59042654	NC_000001.10:g.59042654C>T	ClinGen:CA877479	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.8G>C (p.Arg3Pro)	4070	TACSTD2	Uncertain significance	1041904445	RCV001098063;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042821	59042821	1:g.59042821C>G	-
NM_002353.3(TACSTD2):c.2T>G (p.Met1Arg)	4070	TACSTD2	Pathogenic	80358226	RCV000017570;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042827	59042827	1:g.59042827A>C	ClinGen:CA126250,OMIM:137290.0005	C0339273 204870 Lattice corneal dystrophy Type III;
NM_002353.3(TACSTD2):c.-1C>A	4070	TACSTD2	Benign	232836	RCV000302104;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042829	59042829	NC_000001.10:g.59042829G>T	ClinGen:CA877503	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.-54A>C	4070	TACSTD2	Benign	232835	RCV000358684;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042882	59042882	1:g.59042882T>G	ClinGen:CA10610550	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.-56C>T	4070	TACSTD2	Uncertain significance	774270086	RCV000393929;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042884	59042884	NC_000001.10:g.59042884G>A	ClinGen:CA10610551	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.3(TACSTD2):c.-56C>G	4070	TACSTD2	Uncertain significance	774270086	RCV000305554;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042884	59042884	NC_000001.10:g.59042884G>C	ClinGen:CA10611320	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.2(TACSTD2):c.-104C>G	4070	TACSTD2	Uncertain significance	886046457	RCV000362550;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042932	59042932	NC_000001.10:g.59042932G>C	ClinGen:CA10610214	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.2(TACSTD2):c.-112G>A	4070	TACSTD2	Uncertain significance	1646892722	RCV001099851;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042940	59042940	1:g.59042940C>T	-
NM_002353.2(TACSTD2):c.-160C>G	4070	TACSTD2	Uncertain significance	977480107	RCV001099852;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042988	59042988	1:g.59042988G>C	-
NM_002353.2(TACSTD2):c.-169G>A	4070	TACSTD2	Benign	61779294	RCV000270226;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59042997	59042997	NC_000001.10:g.59042997C>T	ClinGen:CA10611321	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.2(TACSTD2):c.-199G>A	4070	TACSTD2	Uncertain significance	562217606	RCV001099853;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59043027	59043027	1:g.59043027C>T	-
NM_002353.2(TACSTD2):c.-241C>G	4070	TACSTD2	Uncertain significance	942445556	RCV001099854;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59043069	59043069	1:g.59043069G>C	-
NM_002353.2(TACSTD2):c.-269G>C	4070	TACSTD2	Uncertain significance	886046458	RCV000327661;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59043097	59043097	1:g.59043097C>G	ClinGen:CA10611439	CN239339 Corneal Dystrophy, Dominant/Recessive;
NM_002353.2(TACSTD2):c.-314G>A	4070	TACSTD2	Likely benign	546965754	RCV000365871;	N	Human Phenotype Ontology:HP:0034701,MONDO:MONDO:0008777,MedGen:C0339273,OMIM:204870, Orphanet:98957	1	59043142	59043142	1:g.59043142C>T	ClinGen:CA10610565	CN239339 Corneal Dystrophy, Dominant/Recessive;

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