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)
..Starting node ..Macular dystrophy, corneal type 1 (C537834)
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:

7332

Name:

Macular dystrophy, corneal type 1

Definition:

Alternative IDs:

OMIM:217800

ParentIDs:

MESH:D003317

TreeNumbers:

C11.204.236/C537834 |C11.270.162/C537834 |C16.320.290.162/C537834

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C537834
MeSH: C537834
OMIM: 217800;
MSeqDR :
Genes: CHST6; SLC25A3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0001131	Corneal dystrophy
5	HP:0007754	Macular dystrophy
6	HP:0000613	Photophobia
7	HP:0007856	Punctate opacification of the cornea
8	HP:0000495	Recurrent corneal erosions

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000016.9:g.(?_74748068)_(75513746_?)del	4166	CHST6	Pathogenic	-1	RCV001949688;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	74748068	75513746	-1	-
NM_021615.5(CHST6):c.*5465C>T	4166	CHST6	Benign	rs541989548	RCV000296940;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507074	75507074	NC_000016.9:g.75507074G>A	ClinGen:CA10638360	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*5452G>C	4166	CHST6	Uncertain significance	rs886052293	RCV000354191;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507087	75507087	NC_000016.9:g.75507087C>G	ClinGen:CA10644235	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*5445G>A	4166	CHST6	Benign	rs10871313	RCV000275809;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507094	75507094	NC_000016.9:g.75507094C>T	ClinGen:CA10644236	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*5441C>T	4166	CHST6	Benign	rs74742116	RCV000333196;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507098	75507098	NC_000016.9:g.75507098G>A	ClinGen:CA10644239	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*5311T>C	4166	CHST6	Uncertain significance	rs2080035371	RCV001118984;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507228	75507228	16:g.75507228A>G	-
NM_021615.5(CHST6):c.*5286A>T	4166	CHST6	Benign	rs9923834	RCV000366953;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507253	75507253	NC_000016.9:g.75507253T>A	ClinGen:CA10648946	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*5208C>T	4166	CHST6	Uncertain significance	rs867482636	RCV001118985;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507331	75507331	16:g.75507331G>A	-
NM_021615.5(CHST6):c.*5197C>T	4166	CHST6	Likely benign	rs554016597	RCV001120953;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507342	75507342	16:g.75507342G>A	-
NM_021615.5(CHST6):c.*5190T>A	4166	CHST6	Uncertain significance	rs2080036320	RCV001120954;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507349	75507349	16:g.75507349A>T	-
NM_021615.5(CHST6):c.*5187T>G	4166	CHST6	Benign	rs28710075	RCV000274686;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507352	75507352	NC_000016.9:g.75507352A>C	ClinGen:CA10648061	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*5183G>A	4166	CHST6	Uncertain significance	rs886052294	RCV000327485;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507356	75507356	NC_000016.9:g.75507356C>T	ClinGen:CA10648947	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*5182C>G	4166	CHST6	Uncertain significance	rs1008334355	RCV001120955;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507357	75507357	16:g.75507357G>C	-
NM_021615.5(CHST6):c.*5150G>A	4166	CHST6	Uncertain significance	rs777374430	RCV000384425;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507389	75507389	NC_000016.9:g.75507389C>T	ClinGen:CA10648948	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*5149C>T	4166	CHST6	Uncertain significance	rs192151525	RCV001120956;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507390	75507390	16:g.75507390G>A	-
NM_021615.5(CHST6):c.*5011G>A	4166	CHST6	Uncertain significance	rs540453877	RCV001120957;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507528	75507528	16:g.75507528C>T	-
NM_021615.5(CHST6):c.*4981C>T	4166	CHST6	Uncertain significance	rs532430246	RCV001116028;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507558	75507558	16:g.75507558G>A	-
NM_021615.5(CHST6):c.*4970T>C	4166	CHST6	Uncertain significance	rs886052295	RCV000289429;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507569	75507569	NC_000016.9:g.75507569A>G	ClinGen:CA10638364	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4942C>T	4166	CHST6	Uncertain significance	rs907270252	RCV001116029;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507597	75507597	16:g.75507597G>A	-
NM_021615.5(CHST6):c.*4880G>A	4166	CHST6	Likely benign	rs76741848	RCV000323367;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507659	75507659	NC_000016.9:g.75507659C>T	ClinGen:CA10648063	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4749G>T	4166	CHST6	Uncertain significance	rs184112375	RCV001116030;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507790	75507790	16:g.75507790C>A	-
NM_021615.5(CHST6):c.*4605C>T	4166	CHST6	Benign	rs150105169	RCV000380271;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507934	75507934	NC_000016.9:g.75507934G>A	ClinGen:CA10648949	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4589C>T	4166	CHST6	Uncertain significance	rs756919146	RCV001116031;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507950	75507950	16:g.75507950G>A	-
NM_021615.5(CHST6):c.*4586T>C	4166	CHST6	Uncertain significance	rs535487354	RCV000283489;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507953	75507953	NC_000016.9:g.75507953A>G	ClinGen:CA10638365	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4574G>C	4166	CHST6	Uncertain significance	rs572586138	RCV001117480;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507965	75507965	16:g.75507965C>G	-
NM_021615.5(CHST6):c.*4573C>T	4166	CHST6	Uncertain significance	rs138466889	RCV001117481;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507966	75507966	16:g.75507966G>A	-
NM_021615.5(CHST6):c.*4566A>G	4166	CHST6	Uncertain significance	rs950574157	RCV001117482;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75507973	75507973	16:g.75507973T>C	-
NM_021615.5(CHST6):c.*4497G>A	4166	CHST6	Uncertain significance	rs886052296	RCV000340763;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508042	75508042	NC_000016.9:g.75508042C>T	ClinGen:CA10644240	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4494G>C	4166	CHST6	Uncertain significance	rs2080042404	RCV001117483;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508045	75508045	16:g.75508045C>G	-
NM_021615.5(CHST6):c.*4487C>T	4166	CHST6	Likely benign	rs182168641	RCV000397870;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508052	75508052	NC_000016.9:g.75508052G>A	ClinGen:CA10648067	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4470C>T	4166	CHST6	Uncertain significance	rs886052297	RCV000282309;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508069	75508069	NC_000016.9:g.75508069G>A	ClinGen:CA10644248	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4460T>G	4166	CHST6	Uncertain significance	rs2080042971	RCV001117484;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508079	75508079	16:g.75508079A>C	-
NM_021615.5(CHST6):c.*4444A>G	4166	CHST6	Uncertain significance	rs1048250703	RCV001119082;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508095	75508095	16:g.75508095T>C	-
NM_021615.5(CHST6):c.*4373dup	4166	CHST6	Uncertain significance	rs775614448	RCV000334959;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508165	75508166	NC_000016.9:g.75508166dupA	ClinGen:CA10648072	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4366T>C	4166	CHST6	Benign	rs37606	RCV000397873;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508173	75508173	NC_000016.9:g.75508173A>G	ClinGen:CA10648073	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4325A>G	4166	CHST6	Uncertain significance	rs1454981481	RCV001119083;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508214	75508214	16:g.75508214T>C	-
NM_021615.5(CHST6):c.*4305T>C	4166	CHST6	Benign	rs11641249	RCV000314329;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508234	75508234	NC_000016.9:g.75508234A>G	ClinGen:CA10644249	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4291T>C	4166	CHST6	Uncertain significance	rs72789420	RCV001119084;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508248	75508248	16:g.75508248A>G	-
NM_021615.5(CHST6):c.*4290A>C	4166	CHST6	Uncertain significance	rs886052298	RCV000371356;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508249	75508249	NC_000016.9:g.75508249T>G	ClinGen:CA10638366	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4238A>G	4166	CHST6	Uncertain significance	rs570273277	RCV001119085;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508301	75508301	16:g.75508301T>C	-
NM_021615.5(CHST6):c.*4155C>T	4166	CHST6	Benign	rs114790233	RCV000399352;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508384	75508384	NC_000016.9:g.75508384G>A	ClinGen:CA10648075	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4086G>A	4166	CHST6	Benign	rs12918234	RCV000313212;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508453	75508453	NC_000016.9:g.75508453C>T	ClinGen:CA10648950	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4085C>T	4166	CHST6	Uncertain significance	rs144466579	RCV000365513;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508454	75508454	NC_000016.9:g.75508454G>A	ClinGen:CA10648952	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*4003T>C	4166	CHST6	Uncertain significance	rs942544702	RCV001121046;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508536	75508536	16:g.75508536A>G	-
NM_021615.5(CHST6):c.*3992T>C	4166	CHST6	Benign	rs8063344	RCV000273216;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508547	75508547	NC_000016.9:g.75508547A>G	ClinGen:CA10648953	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3983G>A	4166	CHST6	Uncertain significance	rs1051764829	RCV001121047;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508556	75508556	16:g.75508556C>T	-
NM_021615.5(CHST6):c.*3947C>T	4166	CHST6	Uncertain significance	rs564522593	RCV001121048;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508592	75508592	16:g.75508592G>A	-
NM_021615.5(CHST6):c.*3917G>A	4166	CHST6	Likely benign	rs180746384	RCV001121049;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508622	75508622	16:g.75508622C>T	-
NM_021615.5(CHST6):c.*3883T>G	4166	CHST6	Likely benign	rs138114811	RCV001116140;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508656	75508656	16:g.75508656A>C	-
NM_021615.5(CHST6):c.*3828A>T	4166	CHST6	Benign	rs56769615	RCV000325969;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508711	75508711	NC_000016.9:g.75508711T>A	ClinGen:CA10648954	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3819G>C	4166	CHST6	Benign	rs8063068	RCV000363334;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508720	75508720	NC_000016.9:g.75508720C>G	ClinGen:CA10638370	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3815G>A	4166	CHST6	Uncertain significance	rs563939196	RCV000266321;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508724	75508724	NC_000016.9:g.75508724C>T	ClinGen:CA10648076	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3814C>G	4166	CHST6	Uncertain significance	rs552475714	RCV001116141;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508725	75508725	16:g.75508725G>C	-
NM_021615.5(CHST6):c.*3811A>C	4166	CHST6	Uncertain significance	rs776294697	RCV000323879;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508728	75508728	NC_000016.9:g.75508728T>G	ClinGen:CA10648955	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3750C>A	4166	CHST6	Benign	rs142693604	RCV000376119;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508789	75508789	NC_000016.9:g.75508789G>T	ClinGen:CA10638373	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3742C>T	4166	CHST6	Benign	rs56116092	RCV000284052;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508797	75508797	NC_000016.9:g.75508797G>A	ClinGen:CA10648956	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3679T>C	4166	CHST6	Uncertain significance	rs886052299	RCV000318125;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508860	75508860	NC_000016.9:g.75508860A>G	ClinGen:CA10644252	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3656C>A	4166	CHST6	Uncertain significance	rs2080051726	RCV001117575;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508883	75508883	16:g.75508883G>T	-
NM_021615.5(CHST6):c.3643_3644del	4166	CHST6	Uncertain significance	rs563605488	RCV000375076;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508895	75508896	NC_000016.9:g.75508896_75508897del	ClinGen:CA10648077	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3621A>G	4166	CHST6	Benign	rs139900788	RCV000278920;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508918	75508918	16:g.75508918T>C	ClinGen:CA10638374	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3608A>C	4166	CHST6	Uncertain significance	rs560765910	RCV001117576;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508931	75508931	16:g.75508931T>G	-
NM_021615.5(CHST6):c.*3602C>T	4166	CHST6	Uncertain significance	rs576234551	RCV001117577;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508937	75508937	16:g.75508937G>A	-
NM_021615.5(CHST6):c.*3547C>T	4166	CHST6	Uncertain significance	rs540649676	RCV001117578;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75508992	75508992	16:g.75508992G>A	-
NM_021615.5(CHST6):c.*3516T>C	4166	CHST6	Uncertain significance	rs886052300	RCV000336273;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509023	75509023	16:g.75509023A>G	ClinGen:CA10644254	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3490T>C	4166	CHST6	Uncertain significance	rs886052301	RCV000405978;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509049	75509049	16:g.75509049A>G	ClinGen:CA10644264	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3465T>C	4166	CHST6	Benign	rs76471046	RCV001119178;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509074	75509074	16:g.75509074A>G	-
NM_021615.5(CHST6):c.*3441A>T	4166	CHST6	Uncertain significance	rs529530566	RCV000296385;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509098	75509098	16:g.75509098T>A	ClinGen:CA10638376	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3364C>A	4166	CHST6	Likely benign	rs189970730	RCV000349028;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509175	75509175	NC_000016.9:g.75509175G>T	ClinGen:CA10648958	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3297C>T	4166	CHST6	Uncertain significance	rs891021575	RCV001119179;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509242	75509242	16:g.75509242G>A	-
NM_021615.5(CHST6):c.*3240A>G	4166	CHST6	Uncertain significance	rs1022400619	RCV001119180;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509299	75509299	16:g.75509299T>C	-
NM_021615.5(CHST6):c.*3223CT[1]	4166	CHST6	Benign	rs5817947	RCV000396947;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509313	75509314	NC_000016.9:g.75509313AG[1]	ClinGen:CA10648960	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3082G>A	4166	CHST6	Uncertain significance	rs150839584	RCV000309162;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509457	75509457	NC_000016.9:g.75509457C>T	ClinGen:CA10644266	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3078G>A	4166	CHST6	Uncertain significance	rs375112875	RCV000366320;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509461	75509461	NC_000016.9:g.75509461C>T	ClinGen:CA10638377	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2962G>A	4166	CHST6	Uncertain significance	rs557307672	RCV001119181;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509577	75509577	16:g.75509577C>T	-
NM_021615.5(CHST6):c.*2956G>A	4166	CHST6	Benign	rs11860278	RCV000399167;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509583	75509583	NC_000016.9:g.75509583C>T	ClinGen:CA10638379	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2955C>T	4166	CHST6	Likely benign	rs76087215	RCV000304329;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509584	75509584	NC_000016.9:g.75509584G>A	ClinGen:CA10648078	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2947G>T	4166	CHST6	Likely benign	rs112154704	RCV000361407;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509592	75509592	NC_000016.9:g.75509592C>A	ClinGen:CA10648079	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2902dup	4166	CHST6	Uncertain significance	rs886052302	RCV000264274;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509636	75509637	NC_000016.9:g.75509637dupG	ClinGen:CA10644267	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2836T>C	4166	CHST6	Uncertain significance	rs886052303	RCV000302994;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509703	75509703	NC_000016.9:g.75509703A>G	ClinGen:CA10638380	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2833T>G	4166	CHST6	Benign	rs149981556	RCV001121173;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509706	75509706	16:g.75509706A>C	-
NM_021615.5(CHST6):c.*2770T>G	4166	CHST6	Uncertain significance	rs1597468602	RCV001121174;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509769	75509769	16:g.75509769A>C	-
NM_021615.5(CHST6):c.*2652C>T	4166	CHST6	Uncertain significance	rs548748758	RCV000355758;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509887	75509887	NC_000016.9:g.75509887G>A	ClinGen:CA10644268	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2635G>A	4166	CHST6	Uncertain significance	rs147675835	RCV001121175;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75509904	75509904	16:g.75509904C>T	-
NM_021615.5(CHST6):c.*2503G>A	4166	CHST6	Uncertain significance	rs534652248	RCV000263310;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510036	75510036	NC_000016.9:g.75510036C>T	ClinGen:CA10638381	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2450C>G	4166	CHST6	Uncertain significance	rs769668563	RCV001116252;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510089	75510089	16:g.75510089G>C	-
NM_021615.5(CHST6):c.*2437C>T	4166	CHST6	Uncertain significance	rs886052304	RCV000316059;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510102	75510102	NC_000016.9:g.75510102G>A	ClinGen:CA10648080	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2433A>C	4166	CHST6	Uncertain significance	rs886052305	RCV000373049;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510106	75510106	NC_000016.9:g.75510106T>G	ClinGen:CA10638385	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2426T>C	4166	CHST6	Likely benign	rs142614349	RCV001116253;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510113	75510113	16:g.75510113A>G	-
NM_021615.5(CHST6):c.*2417C>T	4166	CHST6	Likely benign	rs188632926	RCV000275736;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510122	75510122	NC_000016.9:g.75510122G>A	ClinGen:CA10638386	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2327C>T	4166	CHST6	Benign	rs185053	RCV000333127;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510212	75510212	NC_000016.9:g.75510212G>A	ClinGen:CA10648083	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2288T>G	4166	CHST6	Benign	rs147960476	RCV000385397;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510251	75510251	NC_000016.9:g.75510251A>C	ClinGen:CA10648962	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2210C>G	4166	CHST6	Likely benign	rs111315694	RCV000293439;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510329	75510329	NC_000016.9:g.75510329G>C	ClinGen:CA10644271	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2131C>T	4166	CHST6	Uncertain significance	rs192587632	RCV001117698;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510408	75510408	16:g.75510408G>A	-
NM_021615.5(CHST6):c.*2080del	4166	CHST6	Uncertain significance	rs36092135	RCV000346062;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510459	75510459	NC_000016.9:g.75510483del	ClinGen:CA10648085	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2055del	4166	CHST6	Uncertain significance	rs886052307	RCV000384326;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510484	75510484	NC_000016.9:g.75510484del	ClinGen:CA10644282	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*2050G>A	4166	CHST6	Uncertain significance	rs1037087194	RCV001117699;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510489	75510489	16:g.75510489C>T	-
NM_021615.5(CHST6):c.*2024C>G	4166	CHST6	Benign	rs7193828	RCV000287771;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510515	75510515	NC_000016.9:g.75510515G>C	ClinGen:CA10644283	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1967C>T	4166	CHST6	Benign	rs42967	RCV000345069;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510572	75510572	NC_000016.9:g.75510572G>A	ClinGen:CA10638388	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1919C>T	4166	CHST6	Benign	rs7194035	RCV000395234;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510620	75510620	NC_000016.9:g.75510620G>A	ClinGen:CA10648086	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1914A>G	4166	CHST6	Likely benign	rs143764747	RCV000305948;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510625	75510625	NC_000016.9:g.75510625T>C	ClinGen:CA10638390	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1892del	4166	CHST6	Benign	rs35225560	RCV000339678;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510647	75510647	16:g.75510647_75510647del	ClinGen:CA10638392	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1836G>A	4166	CHST6	Uncertain significance	rs1441816484	RCV001119264;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510703	75510703	16:g.75510703C>T	-
NM_021615.5(CHST6):c.*1811G>A	4166	CHST6	Uncertain significance	rs577093724	RCV000395231;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510728	75510728	NC_000016.9:g.75510728C>T	ClinGen:CA10638396	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1810C>T	4166	CHST6	Uncertain significance	rs111307793	RCV000299816;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510729	75510729	NC_000016.9:g.75510729G>A	ClinGen:CA10648963	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1758A>T	4166	CHST6	Uncertain significance	rs571537815	RCV000356973;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510781	75510781	NC_000016.9:g.75510781T>A	ClinGen:CA10648087	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1652G>A	4166	CHST6	Uncertain significance	rs1178270623	RCV001119265;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510887	75510887	16:g.75510887C>T	-
NM_021615.5(CHST6):c.*1597T>G	4166	CHST6	Uncertain significance	rs866541400	RCV000259878;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510942	75510942	NC_000016.9:g.75510942A>C	ClinGen:CA10648971	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1585G>T	4166	CHST6	Uncertain significance	rs886052308	RCV000298708;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510954	75510954	NC_000016.9:g.75510954C>A	ClinGen:CA10648972	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1566T>G	4166	CHST6	Benign	rs4888432	RCV000370154;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75510973	75510973	NC_000016.9:g.75510973A>C	ClinGen:CA10638397	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1526C>T	4166	CHST6	Uncertain significance	rs148219139	RCV000277843;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511013	75511013	NC_000016.9:g.75511013G>A	ClinGen:CA10644288	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1474C>G	4166	CHST6	Uncertain significance	rs886052309	RCV000330534;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511065	75511065	NC_000016.9:g.75511065G>C	ClinGen:CA10638398	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1426C>A	4166	CHST6	Benign	rs11861434	RCV000387301;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511113	75511113	NC_000016.9:g.75511113G>T	ClinGen:CA10644289	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1407C>G	4166	CHST6	Uncertain significance	rs117273298	RCV000272133;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511132	75511132	NC_000016.9:g.75511132G>C	ClinGen:CA10648088	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1377G>A	4166	CHST6	Likely benign	rs140231054	RCV000329559;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511162	75511162	NC_000016.9:g.75511162C>T	ClinGen:CA10648973	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1375G>A	4166	CHST6	Benign	rs116020927	RCV000381709;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511164	75511164	NC_000016.9:g.75511164C>T	ClinGen:CA10648976	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1374C>T	4166	CHST6	Uncertain significance	rs564966292	RCV000289703;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511165	75511165	NC_000016.9:g.75511165G>A	ClinGen:CA10638399	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1324C>T	4166	CHST6	Uncertain significance	rs886052310	RCV000342463;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511215	75511215	NC_000016.9:g.75511215G>A	ClinGen:CA10648089	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1316A>C	4166	CHST6	Uncertain significance	rs773150182	RCV000376071;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511223	75511223	NC_000016.9:g.75511223T>G	ClinGen:CA10648978	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1295T>C	4166	CHST6	Uncertain significance	rs886052311	RCV000283970;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511244	75511244	NC_000016.9:g.75511244A>G	ClinGen:CA10648093	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1118A>G	4166	CHST6	Likely benign	rs191429909	RCV000336744;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511421	75511421	16:g.75511421T>C	ClinGen:CA10648098	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1058G>T	4166	CHST6	Uncertain significance	rs137868909	RCV000397840;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511481	75511481	16:g.75511481C>A	ClinGen:CA10644291	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1058G>A	4166	CHST6	Benign	rs137868909	RCV000301338;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511481	75511481	16:g.75511481C>T	ClinGen:CA10648979	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1047G>T	4166	CHST6	Benign	rs77687996	RCV000337539;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511492	75511492	16:g.75511492C>A	ClinGen:CA10644295	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1031A>G	4166	CHST6	Uncertain significance	rs886052312	RCV000397843;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511508	75511508	16:g.75511508T>C	ClinGen:CA10648980	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*991A>G	4166	CHST6	Benign	rs142368532	RCV001116350;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511548	75511548	16:g.75511548T>C	-
NM_021615.5(CHST6):c.*984G>C	4166	CHST6	Uncertain significance	rs886052313	RCV000311729;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511555	75511555	NC_000016.9:g.75511555C>G	ClinGen:CA10648099	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*972C>A	4166	CHST6	Uncertain significance	rs561639379	RCV000371109;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511567	75511567	NC_000016.9:g.75511567G>T	ClinGen:CA10644296	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*955C>T	4166	CHST6	Benign	rs116535181	RCV000390266;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511584	75511584	NC_000016.9:g.75511584G>A	ClinGen:CA10648983	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*824G>A	4166	CHST6	Uncertain significance	rs540252682	RCV001117799;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511715	75511715	16:g.75511715C>T	-
NM_021615.5(CHST6):c.*818G>A	4166	CHST6	Uncertain significance	rs999743468	RCV001117800;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511721	75511721	16:g.75511721C>T	-
NM_021615.5(CHST6):c.*794A>C	4166	CHST6	Uncertain significance	rs886052314	RCV000308223;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511745	75511745	NC_000016.9:g.75511745T>G	ClinGen:CA10648101	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*751C>T	4166	CHST6	Uncertain significance	rs780235353	RCV000362717;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511788	75511788	NC_000016.9:g.75511788G>A	ClinGen:CA10638400	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*712G>A	4166	CHST6	Uncertain significance	rs565082451	RCV000272815;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511827	75511827	NC_000016.9:g.75511827C>T	ClinGen:CA10648103	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*687C>A	4166	CHST6	Uncertain significance	rs886052315	RCV000327910;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511852	75511852	NC_000016.9:g.75511852G>T	ClinGen:CA10644300	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*606G>A	4166	CHST6	Benign	rs117741124	RCV000359353;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511933	75511933	NC_000016.9:g.75511933C>T	ClinGen:CA10648984	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*588T>G	4166	CHST6	Uncertain significance	rs886052316	RCV000264350;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75511951	75511951	NC_000016.9:g.75511951A>C	ClinGen:CA10644301	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*522G>C	4166	CHST6	Uncertain significance	rs770900838	RCV000324151;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512017	75512017	NC_000016.9:g.75512017C>G	ClinGen:CA10648104	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.488_490del	4166	CHST6	Uncertain significance	rs886052317	RCV000378681;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512049	75512051	NC_000016.9:g.75512051_75512053del	ClinGen:CA10648105	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*472G>C	4166	CHST6	Uncertain significance	rs886052318	RCV000279584;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512067	75512067	NC_000016.9:g.75512067C>G	ClinGen:CA10648985	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*435C>T	4166	CHST6	Likely benign	rs375230497	RCV001119365;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512104	75512104	16:g.75512104G>A	-
NM_021615.5(CHST6):c.*377G>A	4166	CHST6	Benign	rs138647317	RCV000316131;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512162	75512162	NC_000016.9:g.75512162C>T	ClinGen:CA10644302	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.242_243insG	4166	CHST6	Benign	rs11436257	RCV000375415\|RCV001594952;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969\|MedGen:CN517202	16	75512296	75512297	NC_000016.9:g.75512296_75512297insC	ClinGen:CA10638408	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*242T>C	4166	CHST6	Uncertain significance	rs886052319	RCV000280938;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512297	75512297	NC_000016.9:g.75512297A>G	ClinGen:CA10648990	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*241C>T	4166	CHST6	Uncertain significance	rs886052320	RCV000349917;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512298	75512298	NC_000016.9:g.75512298G>A	ClinGen:CA10648993	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*164G>T	4166	CHST6	Uncertain significance	rs901651645	RCV001121366;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512375	75512375	16:g.75512375C>A	-
NM_021615.5(CHST6):c.*139A>G	4166	CHST6	Uncertain significance	rs149297341	RCV000403175;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512400	75512400	NC_000016.9:g.75512400T>C	ClinGen:CA10644304	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*106G>T	4166	CHST6	Uncertain significance	rs958743404	RCV001121367;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512433	75512433	16:g.75512433C>A	-
NM_021615.5(CHST6):c.*68G>T	4166	CHST6	Uncertain significance	rs968538456	RCV001121368;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512471	75512471	16:g.75512471C>A	-
NM_021615.5(CHST6):c.*33G>C	4166	CHST6	Uncertain significance	rs376468061	RCV000295708;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512506	75512506	NC_000016.9:g.75512506C>G	ClinGen:CA8175256	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*13T>C	4166	CHST6	Uncertain significance	rs750212631	RCV001121369;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512526	75512526	16:g.75512526A>G	-
NM_021615.5(CHST6):c.1181G>A (p.Arg394Gln)	4166	CHST6	Uncertain significance	rs139042144	RCV000350676;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512546	75512546	NC_000016.9:g.75512546C>T	ClinGen:CA8175268	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.1167C>T (p.Thr389=)	4166	CHST6	Likely benign	-1	RCV001456521;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512560	75512560	75512560	-
NM_021615.5(CHST6):c.1132C>T (p.Arg378Ter)	4166	CHST6	Uncertain significance	-1	RCV002615198;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512595	75512595	NC_000016.9:g.75512595G>A	-
NM_021615.5(CHST6):c.1124T>G (p.Val375Gly)	4166	CHST6	Uncertain significance	rs142097284	RCV001116450;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512603	75512603	16:g.75512603A>C	-
NM_021615.5(CHST6):c.1113C>G (p.Ala371=)	4166	CHST6	Uncertain significance	rs763307252	RCV001116451;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512614	75512614	16:g.75512614G>C	-
NM_021615.5(CHST6):c.1101G>A (p.Gln367=)	4166	CHST6	Uncertain significance	rs1182017136	RCV001116452;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512626	75512626	16:g.75512626C>T	-
NM_021615.5(CHST6):c.1099C>G (p.Gln367Glu)	4166	CHST6	Uncertain significance	-1	RCV001993850;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512628	75512628	75512628	-
NM_021615.5(CHST6):c.1096G>A (p.Glu366Lys)	4166	CHST6	Uncertain significance	rs369592422	RCV001207736;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512631	75512631	16:g.75512631C>T	-
NM_021615.5(CHST6):c.1082T>C (p.Val361Ala)	4166	CHST6	Uncertain significance	rs150880663	RCV000397063;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512645	75512645	NC_000016.9:g.75512645A>G	ClinGen:CA8175297	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.1052_1059dup (p.Gln354fs)	4166	CHST6	Uncertain significance	-1	RCV002289063;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512667	75512668	75512667	-
NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg)	4166	CHST6	Uncertain significance	rs189849720	RCV001348901;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512684	75512684	75512684	-
NM_021615.5(CHST6):c.1033G>A (p.Val345Met)	4166	CHST6	Uncertain significance	-1	RCV002938239;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512694	75512694	NC_000016.9:g.75512694C>T	-
NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys)	4166	CHST6	Uncertain significance	rs745660697	RCV000306656;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512697	75512697	NC_000016.9:g.75512697G>A	ClinGen:CA8175322	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr)	4166	CHST6	Benign	-1	RCV002096646;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512721	75512721	75512721	-
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)	4166	CHST6	Conflicting interpretations of pathogenicity	-1	RCV001731225;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512730	75512730	75512730	-
NM_021615.5(CHST6):c.993G>T (p.Gln331His)	4166	CHST6	Conflicting interpretations of pathogenicity	rs140699573	RCV000177326\|RCV000885002;	N	MedGen:CN169374\|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512734	75512734	16:g.75512734C>A	ClinGen:CA243479	CN169374 not specified;
NM_021615.5(CHST6):c.992A>G (p.Gln331Arg)	4166	CHST6	Uncertain significance	-1	RCV003057643;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512735	75512735	NC_000016.9:g.75512735T>C	-
NM_021615.5(CHST6):c.987C>T (p.Val329=)	4166	CHST6	Uncertain significance	rs369751938	RCV000365962;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512740	75512740	NC_000016.9:g.75512740G>A	ClinGen:CA8175333	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.976G>T (p.Ala326Ser)	4166	CHST6	Uncertain significance	rs201349198	RCV000365634\|RCV001855182;	N	MedGen:CN517202\|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512751	75512751	16:g.75512751C>A	ClinGen:CA8175337	CN169374 not specified;
NM_021615.5(CHST6):c.949G>C (p.Glu317Gln)	4166	CHST6	Uncertain significance	-1	RCV002639322;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512778	75512778	NC_000016.9:g.75512778C>G	-
NM_021615.5(CHST6):c.944G>A (p.Arg315His)	4166	CHST6	Uncertain significance	-1	RCV001371555;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512783	75512783	75512783	-
NM_021615.5(CHST6):c.918C>T (p.Ile306=)	4166	CHST6	Conflicting interpretations of pathogenicity	rs576445739	RCV000397048;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512809	75512809	NC_000016.9:g.75512809G>A	ClinGen:CA8175352	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.897C>G (p.Leu299=)	4166	CHST6	Likely benign	-1	RCV001460860;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512830	75512830	75512830	-
NM_021615.5(CHST6):c.892C>T (p.Gln298Ter)	4166	CHST6	Pathogenic	rs886052321	RCV000303034;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512835	75512835	NC_000016.9:g.75512835G>A	ClinGen:CA10648995	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.857C>T (p.Ala286Val)	4166	CHST6	Uncertain significance	rs751949248	RCV000361725;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512870	75512870	NC_000016.9:g.75512870G>A	ClinGen:CA8175369	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)	4166	CHST6	Pathogenic/Likely pathogenic	-1	RCV001731224;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512879	75512880	75512879	-
NM_021615.5(CHST6):c.828G>A (p.Leu276=)	4166	CHST6	Benign	rs140327212	RCV000881933\|RCV001117909;	N	MedGen:CN517202\|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512899	75512899	16:g.75512899C>T	-
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro)	4166	CHST6	Pathogenic	rs121917824	RCV000005383;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512900	75512900	16:g.75512900A>G	ClinGen:CA250522,UniProtKB:Q9GZX3#VAR_021468,OMIM:605294.0008	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.799C>T (p.Arg267Cys)	4166	CHST6	Uncertain significance	-1	RCV002009424;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512928	75512928	75512928	-
NM_021615.5(CHST6):c.789T>C (p.Phe263=)	4166	CHST6	Likely benign	-1	RCV001398804;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512938	75512938	75512938	-
NM_021615.5(CHST6):c.768C>T (p.Ala256=)	4166	CHST6	Benign	rs146465655	RCV000958719;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512959	75512959	16:g.75512959G>A	-
NM_021615.5(CHST6):c.729C>T (p.Arg243=)	4166	CHST6	Likely benign	rs916401556	RCV001309627;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75512998	75512998	75512998	-
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser)	4166	CHST6	Uncertain significance	rs547928453	RCV000267043;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513009	75513009	NC_000016.9:g.75513009G>T	ClinGen:CA8175415	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.713G>A (p.Gly238Asp)	4166	CHST6	Uncertain significance	-1	RCV003007309;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513014	75513014	NC_000016.9:g.75513014C>T	-
NM_021615.5(CHST6):c.708C>T (p.Asp236=)	4166	CHST6	Uncertain significance	rs779128434	RCV000317606;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513019	75513019	NC_000016.9:g.75513019G>A	ClinGen:CA8175420	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.666C>T (p.Asn222=)	4166	CHST6	Benign	rs148529501	RCV000353686;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513061	75513061	NC_000016.9:g.75513061G>A	ClinGen:CA8175433	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.656C>T (p.Ala219Val)	4166	CHST6	Conflicting interpretations of pathogenicity	rs201743866	RCV001117910\|RCV002558162;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969\|MeSH:D030342,MedGen:C0950123	16	75513071	75513071	16:g.75513071G>A	-
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)	4166	CHST6	Uncertain significance	-1	RCV003078963;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513102	75513102	NC_000016.9:g.75513102G>A	-
NM_021615.5(CHST6):c.621G>A (p.Val207=)	4166	CHST6	Likely benign	rs775009315	RCV000936037\|RCV001422515;	N	MedGen:CN517202\|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513106	75513106	16:g.75513106C>T	-
NM_021615.5(CHST6):c.601_621del (p.Val201_Val207del)	4166	CHST6	Pathogenic	-1	RCV003030016;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513106	75513126	NC_000016.9:g.75513108_75513128del	-
NM_021615.5(CHST6):c.609C>A (p.Asp203Glu)	4166	CHST6	Pathogenic	rs28937878	RCV000005376;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513118	75513118	16:g.75513118G>T	UniProtKB:Q9GZX3#VAR_021453,OMIM:605294.0002,ClinGen:CA250519	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)	4166	CHST6	Pathogenic	rs28937879	RCV000005380\|RCV000005379\|RCV001091757;	N	MedGen:C1691013\|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969\|MedGen:CN517202	16	75513128	75513128	16:g.75513128A>C	ClinGen:CA117249,UniProtKB:Q9GZX3#VAR_021451,OMIM:605294.0005	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.585A>G (p.Leu195=)	4166	CHST6	Likely benign	-1	RCV001445734;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513142	75513142	75513142	-
NM_021615.5(CHST6):c.573C>G (p.Pro191=)	4166	CHST6	Conflicting interpretations of pathogenicity	rs1044185449	RCV001119457;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513154	75513154	16:g.75513154G>C	-
NM_021615.5(CHST6):c.539A>G (p.Asn180Ser)	4166	CHST6	Uncertain significance	rs773164615	RCV001119458;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513188	75513188	16:g.75513188T>C	-
NM_021615.5(CHST6):c.532T>G (p.Phe178Val)	4166	CHST6	Uncertain significance	-1	RCV001922179;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513195	75513195	75513195	-
NM_021615.5(CHST6):c.521A>G (p.Lys174Arg)	4166	CHST6	Pathogenic	rs28937877	RCV000005375;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513206	75513206	16:g.75513206T>C	ClinGen:CA250518,UniProtKB:Q9GZX3#VAR_021448,OMIM:605294.0001	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.518T>C (p.Leu173Pro)	4166	CHST6	Uncertain significance	-1	RCV001367958;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513209	75513209	75513209	-
NM_021615.5(CHST6):c.500C>T (p.Ser167Phe)	4166	CHST6	Uncertain significance	rs756399261	RCV001298368;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513227	75513227	75513227	-
NM_021615.5(CHST6):c.496C>G (p.Arg166Gly)	4166	CHST6	Uncertain significance	rs141965945	RCV001119459;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513231	75513231	16:g.75513231G>C	-
NM_021615.5(CHST6):c.494_495delinsCT (p.Cys165Ser)	4166	CHST6	Conflicting interpretations of pathogenicity	rs2080109094	RCV001331192\|RCV002225826;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969\|MedGen:CN517202	16	75513232	75513233	75513232	-
NM_021615.5(CHST6):c.485G>A (p.Arg162Gln)	4166	CHST6	Uncertain significance	-1	RCV003078694;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513242	75513242	NC_000016.9:g.75513242C>T	-
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly)	4166	CHST6	Benign	rs117435647	RCV000318543\|RCV001636903;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969\|MedGen:CN517202	16	75513243	75513243	NC_000016.9:g.75513243G>C	ClinGen:CA8175487,UniProtKB:Q9GZX3#VAR_021446	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.484C>A (p.Arg162=)	4166	CHST6	Uncertain significance	rs117435647	RCV001119460;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513243	75513243	16:g.75513243G>T	-
NM_021615.5(CHST6):c.465G>A (p.Arg155=)	4166	CHST6	Benign	rs141905571	RCV000387102;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513262	75513262	NC_000016.9:g.75513262C>T	ClinGen:CA8175491	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.464G>T (p.Arg155Leu)	4166	CHST6	Uncertain significance	-1	RCV002915071;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513263	75513263	NC_000016.9:g.75513263C>A	-
NM_021615.5(CHST6):c.400G>A (p.Ala134Thr)	4166	CHST6	Uncertain significance	-1	RCV001894403;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513327	75513327	75513327	-
NM_021615.5(CHST6):c.392C>T (p.Ser131Leu)	4166	CHST6	Uncertain significance	rs375059043	RCV000778477;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513335	75513335	NC_000016.9:g.75513335G>A	-
NM_021615.5(CHST6):c.355G>C (p.Asp119His)	4166	CHST6	Uncertain significance	-1	RCV001963438;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513372	75513372	75513372	-
NM_021615.5(CHST6):c.329A>G (p.Tyr110Cys)	4166	CHST6	Pathogenic	rs72547544	RCV000005382;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513398	75513398	16:g.75513398T>C	ClinGen:CA250521,UniProtKB:Q9GZX3#VAR_021439,OMIM:605294.0007	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.323A>T (p.Asp108Val)	4166	CHST6	Uncertain significance	-1	RCV002866159;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513404	75513404	NC_000016.9:g.75513404T>A	-
NM_021615.5(CHST6):c.307G>A (p.Asp103Asn)	4166	CHST6	Uncertain significance	-1	RCV001942776;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513420	75513420	75513420	-
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)	4166	CHST6	Pathogenic	rs121917822	RCV000005381;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513423	75513423	16:g.75513423A>C	ClinGen:CA250520,UniProtKB:Q9GZX3#VAR_021435,OMIM:605294.0006	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.301C>T (p.Leu101=)	4166	CHST6	Conflicting interpretations of pathogenicity	rs373160858	RCV001119461;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513426	75513426	16:g.75513426G>A	-
NM_021615.5(CHST6):c.294C>G (p.Ser98=)	4166	CHST6	Benign	rs118144424	RCV000546195;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513433	75513433	16:g.75513433G>C	ClinGen:CA8175534	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.290_293dup (p.Val99fs)	4166	CHST6	Pathogenic	-1	RCV002858407;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513433	75513434	NC_000016.9:g.75513435_75513438dup	-
NM_021615.5(CHST6):c.258A>C (p.Ala86=)	4166	CHST6	Benign	rs61740901	RCV000292878;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513469	75513469	NC_000016.9:g.75513469T>G	ClinGen:CA8175547	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.237C>T (p.Thr79=)	4166	CHST6	Benign/Likely benign	rs112148613	RCV000966304\|RCV001121452;	N	MedGen:CN517202\|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513490	75513490	16:g.75513490G>A	-
NM_021615.5(CHST6):c.211G>C (p.Glu71Gln)	4166	CHST6	Likely pathogenic	-1	RCV001785426;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513516	75513516	75513516	-
NM_021615.5(CHST6):c.196G>C (p.Val66Leu)	4166	CHST6	Uncertain significance	rs72547547	RCV000778478;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513531	75513531	NC_000016.9:g.75513531C>G	-
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter)	4166	CHST6	Pathogenic/Likely pathogenic	rs756036451	RCV000598391\|RCV002506409;	N	MedGen:CN517202\|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513555	75513555	16:g.75513555G>A	ClinGen:CA8175566	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.130C>T (p.Leu44=)	4166	CHST6	Benign/Likely benign	rs140675009	RCV000966305\|RCV001121453;	N	MedGen:CN517202\|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513597	75513597	16:g.75513597G>A	-
NM_021615.5(CHST6):c.129G>A (p.Val43=)	4166	CHST6	Benign	rs112939575	RCV000334104;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513598	75513598	NC_000016.9:g.75513598C>T	ClinGen:CA8175577	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.120C>T (p.Arg40=)	4166	CHST6	Benign	rs61740904	RCV000388573;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513607	75513607	NC_000016.9:g.75513607G>A	ClinGen:CA8175578	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.115G>C (p.Ala39Pro)	4166	CHST6	Uncertain significance	rs760172031	RCV001121454;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513612	75513612	16:g.75513612C>G	-
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu)	4166	CHST6	Uncertain significance	rs1443299574	RCV000660545;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513641	75513641	NC_000016.9:g.75513641G>A	-	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.24C>T (p.Ser8=)	4166	CHST6	Uncertain significance	rs1461106668	RCV001121455;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513703	75513703	16:g.75513703G>A	-
NM_021615.5(CHST6):c.15C>T (p.Arg5=)	4166	CHST6	Conflicting interpretations of pathogenicity	rs762744897	RCV001121456;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513712	75513712	16:g.75513712G>A	-
NM_021615.5(CHST6):c.14G>C (p.Arg5Pro)	4166	CHST6	Uncertain significance	-1	RCV001918463;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513713	75513713	75513713	-
NM_021615.5(CHST6):c.7C>A (p.Leu3Met)	4166	CHST6	Uncertain significance	rs780317850	RCV001116563;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513720	75513720	16:g.75513720G>T	-
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter)	4166	CHST6	Uncertain significance	rs753928736	RCV000778479;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75513721	75513721	NC_000016.9:g.75513721C>T	-
NM_021615.5(CHST6):c.-21C>A	4166	CHST6	Uncertain significance	rs886052322	RCV000289481;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75515719	75515719	NC_000016.9:g.75515719G>T	ClinGen:CA10648996	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.-66C>G	4166	CHST6	Uncertain significance	rs886052323	RCV000344519;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75515764	75515764	NC_000016.9:g.75515764G>C	ClinGen:CA10638417	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.-78T>C	4166	CHST6	Likely benign	rs114012239	RCV000405327;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75515776	75515776	NC_000016.9:g.75515776A>G	ClinGen:CA10638422	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.-115C>G	4166	CHST6	Uncertain significance	rs886052324	RCV000290791;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75528861	75528861	NC_000016.9:g.75528861G>C	ClinGen:CA10648109	C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.-154T>A	4166	CHST6	Uncertain significance	rs886052325	RCV000341211;	N	MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969	16	75528900	75528900	NC_000016.9:g.75528900A>T	ClinGen:CA10638423	C1636149 217800 Macular corneal dystrophy Type I;

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