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*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Corneal Dystrophies, Hereditary (D003317)
..Starting node
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Macular dystrophy, corneal type 1 (C537834)

       Child Nodes:



 Sister Nodes: 
..expandBietti Crystalline Dystrophy (C535440)
..expandBrachymesomelia renal syndrome (C537096)
..expandChorioretinal atrophy, progressive bifocal (C535356)
..expandCongenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..expandCorneal cerebellar syndrome (C535472)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCorneal dystrophy Avellino type (C535474)
..expandCorneal dystrophy of Bowman layer, type 1 (C535476)
..expandCorneal Dystrophy, Band-Shaped (C562399)
..expandCorneal Dystrophy, Central Type (C563262)
..expandCorneal Dystrophy, Congenital Stromal (C566452)
..expandCorneal Dystrophy, Crystalline, of Schnyder (C535475)
..expandCorneal Dystrophy, Endothelial, X-Linked (C567587)
..expandCorneal Dystrophy, Fleck (C563256)
..expandCorneal dystrophy, gelatinous drop-like (C535480)
..expandCorneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..expandCorneal Dystrophy, Lattice Type IIIA (C563923)
..expandCorneal Dystrophy, Lisch Epithelial (C567588)
..expandCorneal Dystrophy, Posterior Amorphous (C567546)
..expandCorneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..expandCorneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..expandCorneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..expandCorneal Dystrophy, Subepithelial Mucinous (C567547)
..expandCorneal dystrophy, Thiel-Behnke type (C535942)
..expandCorneal Endothelial Dystrophy 1 (C565156)
..expandCorneal endothelial dystrophy type 2 (C536439)
..expandCorneodermatoosseous syndrome (C536444)
..expandDermochondrocorneal dystrophy of FrančŽ½ois (C535375)
..expandEDICT SYNDROME (OMIM:614303)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEpithelial Recurrent Erosion Dystrophy (C565155)
..expandFuchs' Endothelial Dystrophy (D005642) Child10
..expandGroenouw type I corneal dystrophy (C537304)
..expandIchthyosiform erythroderma, corneal involvement, deafness (C537363)
..expandJudge Misch Wright syndrome (C537692)
..expandKuster Majewski Hammerstein syndrome (C538125)
..expandLattice corneal dystrophy type 1 (C537881)
..expandMacular Corneal Dystrophy, Type II (C563270)
..expandMacular dystrophy, corneal type 1 (C537834)
..expandMacular Dystrophy, Fenestrated Sheen Type (C563607)
..expandMacular dystrophy, retinal, 1, North Carolina type (C537835)
..expandMacular Dystrophy, Retinal, 2 (C562746)
..expandMeretoja syndrome (C537459)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandO'Donnell Pappas syndrome (C537858)
..expandOculodental syndrome Rutherfurd syndrome (C537732)
..expandPseudoinflammatory fundus dystrophy, Finnish type (C535828)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..expandSveinsson 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:Corneal dystrophy, macular type |Groenouw type II corneal dystrophy |Macular corneal dystrophy type 1 |Macular Corneal Dystrophy, Type I |MACULAR DYSTROPHY, CORNEAL |Macular Dystrophy, Corneal, 1 |Mcd |Mcdc1 |MCDC1, FORMERLY MACULAR CORNEAL DYSTROPHY, TYPE II,
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C537834
MeSH: C537834
OMIM: 217800;
MSeqDR LSDB:  
Genes: CHST6; SLC25A3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003621Juvenile onset
3 HP:0001939Abnormality of metabolism/homeostasis
4 HP:0001131Corneal dystrophy
5 HP:0007754Macular dystrophy
6 HP:0000613Photophobia
7 HP:0007856Punctate opacification of the cornea
8 HP:0000495Recurrent corneal erosions
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_021615.5(CHST6):c.*5465C>T4166CHST6Uncertain significancers541989548RCV000296940; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755070747550707416:g.75507074G>A-
NM_021615.5(CHST6):c.*5452G>C4166CHST6Uncertain significancers886052293RCV000354191; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755070877550708716:g.75507087C>G-
NM_021615.5(CHST6):c.*5445G>A4166CHST6Benignrs10871313RCV000275809; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755070947550709416:g.75507094C>T-
NM_021615.5(CHST6):c.*5441C>T4166CHST6Likely benignrs74742116RCV000333196; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755070987550709816:g.75507098G>A-
NM_021615.5(CHST6):c.*5286A>T4166CHST6Benignrs9923834RCV000366953; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755072537550725316:g.75507253T>A-
NM_021615.5(CHST6):c.*5187T>G4166CHST6Uncertain significancers28710075RCV000274686; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755073527550735216:g.75507352A>C-
NM_021615.5(CHST6):c.*5183G>A4166CHST6Uncertain significancers886052294RCV000327485; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755073567550735616:g.75507356C>T-
NM_021615.5(CHST6):c.*5150G>A4166CHST6Uncertain significancers777374430RCV000384425; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755073897550738916:g.75507389C>T-
NM_021615.5(CHST6):c.*4970T>C4166CHST6Uncertain significancers886052295RCV000289429; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755075697550756916:g.75507569A>G-
NM_021615.5(CHST6):c.*4880G>A4166CHST6Uncertain significancers76741848RCV000323367; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755076597550765916:g.75507659C>T-
NM_021615.5(CHST6):c.*4605C>T4166CHST6Likely benignrs150105169RCV000380271; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755079347550793416:g.75507934G>A-
NM_021615.5(CHST6):c.*4586T>C4166CHST6Uncertain significancers535487354RCV000283489; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755079537550795316:g.75507953A>G-
NM_021615.5(CHST6):c.*4497G>A4166CHST6Uncertain significancers886052296RCV000340763; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755080427550804216:g.75508042C>T-
NM_021615.5(CHST6):c.*4487C>T4166CHST6Uncertain significancers182168641RCV000397870; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755080527550805216:g.75508052G>A-
NM_021615.5(CHST6):c.*4470C>T4166CHST6Uncertain significancers886052297RCV000282309; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755080697550806916:g.75508069G>A-
NM_021615.5(CHST6):c.*4373dup4166CHST6Uncertain significancers775614448RCV000334959; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755081657550816616:g.75508165_75508166insA-
NM_021615.5(CHST6):c.*4366T>C4166CHST6Benignrs37606RCV000397873; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755081737550817316:g.75508173A>G-
NM_021615.5(CHST6):c.*4305T>C4166CHST6Benignrs11641249RCV000314329; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755082347550823416:g.75508234A>G-
NM_021615.5(CHST6):c.*4290A>C4166CHST6Uncertain significancers886052298RCV000371356; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755082497550824916:g.75508249T>G-
NM_021615.5(CHST6):c.*4155C>T4166CHST6Uncertain significancers114790233RCV000399352; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755083847550838416:g.75508384G>A-
NM_021615.5(CHST6):c.*4086G>A4166CHST6Likely benignrs12918234RCV000313212; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755084537550845316:g.75508453C>T-
NM_021615.5(CHST6):c.*4085C>T4166CHST6Uncertain significancers144466579RCV000365513; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755084547550845416:g.75508454G>A-
NM_021615.5(CHST6):c.*3992T>C4166CHST6Likely benignrs8063344RCV000273216; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755085477550854716:g.75508547A>G-
NM_021615.5(CHST6):c.*3828A>T4166CHST6Likely benignrs56769615RCV000325969; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755087117550871116:g.75508711T>A-
NM_021615.5(CHST6):c.*3819G>C4166CHST6Benignrs8063068RCV000363334; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755087207550872016:g.75508720C>G-
NM_021615.5(CHST6):c.*3815G>A4166CHST6Uncertain significancers563939196RCV000266321; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755087247550872416:g.75508724C>T-
NM_021615.5(CHST6):c.*3811A>C4166CHST6Uncertain significancers776294697RCV000323879; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755087287550872816:g.75508728T>G-
NM_021615.5(CHST6):c.*3750C>A4166CHST6Uncertain significancers142693604RCV000376119; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755087897550878916:g.75508789G>T-
NM_021615.5(CHST6):c.*3742C>T4166CHST6Benignrs56116092RCV000284052; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755087977550879716:g.75508797G>A-
NM_021615.5(CHST6):c.*3679T>C4166CHST6Uncertain significancers886052299RCV000318125; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755088607550886016:g.75508860A>G-
NM_021615.5(CHST6):c.*3643_*3644del4166CHST6Uncertain significancers563605488RCV000375076; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755088957550889616:g.75508895_75508896del-
NM_021615.5(CHST6):c.*3621A>G4166CHST6Uncertain significancers139900788RCV000278920; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755089187550891816:g.75508918T>C-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3516T>C4166CHST6Uncertain significancers886052300RCV000336273; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755090237550902316:g.75509023A>G-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3490T>C4166CHST6Uncertain significancers886052301RCV000405978; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755090497550904916:g.75509049A>G-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3441A>T4166CHST6Uncertain significancers529530566RCV000296385; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755090987550909816:g.75509098T>A-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3364C>A4166CHST6Uncertain significancers189970730RCV000349028; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755091757550917516:g.75509175G>T-
NM_021615.5(CHST6):c.*3223_*3224CT[1]4166CHST6Benignrs5817947RCV000396947; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755093137550931416:g.75509313_75509314del-
NM_021615.5(CHST6):c.*3082G>A4166CHST6Uncertain significancers150839584RCV000309162; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755094577550945716:g.75509457C>T-
NM_021615.5(CHST6):c.*3078G>A4166CHST6Uncertain significancers375112875RCV000366320; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755094617550946116:g.75509461C>T-
NM_021615.5(CHST6):c.*2956G>A4166CHST6Likely benignrs11860278RCV000399167; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755095837550958316:g.75509583C>T-
NM_021615.5(CHST6):c.*2955C>T4166CHST6Uncertain significancers76087215RCV000304329; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755095847550958416:g.75509584G>A-
NM_021615.5(CHST6):c.*2947G>T4166CHST6Uncertain significancers112154704RCV000361407; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755095927550959216:g.75509592C>A-
NM_021615.5(CHST6):c.*2902dup4166CHST6Uncertain significancers886052302RCV000264274; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755096367550963716:g.75509636_75509637insG-
NM_021615.5(CHST6):c.*2836T>C4166CHST6Uncertain significancers886052303RCV000302994; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755097037550970316:g.75509703A>G-
NM_021615.5(CHST6):c.*2652C>T4166CHST6Uncertain significancers548748758RCV000355758; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755098877550988716:g.75509887G>A-
NM_021615.5(CHST6):c.*2503G>A4166CHST6Uncertain significancers534652248RCV000263310; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755100367551003616:g.75510036C>T-
NM_021615.5(CHST6):c.*2437C>T4166CHST6Uncertain significancers886052304RCV000316059; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755101027551010216:g.75510102G>A-
NM_021615.5(CHST6):c.*2433A>C4166CHST6Uncertain significancers886052305RCV000373049; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755101067551010616:g.75510106T>G-
NM_021615.5(CHST6):c.*2417C>T4166CHST6Uncertain significancers188632926RCV000275736; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755101227551012216:g.75510122G>A-
NM_021615.5(CHST6):c.*2327C>T4166CHST6Benignrs185053RCV000333127; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755102127551021216:g.75510212G>A-
NM_021615.5(CHST6):c.*2288T>G4166CHST6Likely benignrs147960476RCV000385397; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755102517551025116:g.75510251A>C-
NM_021615.5(CHST6):c.*2210C>G4166CHST6Uncertain significancers111315694RCV000293439; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755103297551032916:g.75510329G>C-
NM_021615.5(CHST6):c.*2080del4166CHST6Uncertain significancers36092135RCV000346062; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755104597551045916:g.75510459_75510459del-
NM_021615.5(CHST6):c.*2055del4166CHST6Uncertain significancers886052307RCV000384326; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755104847551048416:g.75510484_75510484del-
NM_021615.5(CHST6):c.*2024C>G4166CHST6Benignrs7193828RCV000287771; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755105157551051516:g.75510515G>C-
NM_021615.5(CHST6):c.*1967C>T4166CHST6Benignrs42967RCV000345069; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755105727551057216:g.75510572G>A-
NM_021615.5(CHST6):c.*1919C>T4166CHST6Benignrs7194035RCV000395234; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755106207551062016:g.75510620G>A-
NM_021615.5(CHST6):c.*1914A>G4166CHST6Uncertain significancers143764747RCV000305948; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755106257551062516:g.75510625T>C-
NM_021615.5(CHST6):c.*1892del4166CHST6Benignrs35225560RCV000339678; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755106477551064716:g.75510647_75510647del-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1811G>A4166CHST6Uncertain significancers577093724RCV000395231; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755107287551072816:g.75510728C>T-
NM_021615.5(CHST6):c.*1810C>T4166CHST6Uncertain significancers111307793RCV000299816; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755107297551072916:g.75510729G>A-
NM_021615.5(CHST6):c.*1758A>T4166CHST6Uncertain significancers571537815RCV000356973; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755107817551078116:g.75510781T>A-
NM_021615.5(CHST6):c.*1597T>G4166CHST6Uncertain significancers866541400RCV000259878; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755109427551094216:g.75510942A>C-
NM_021615.5(CHST6):c.*1585G>T4166CHST6Uncertain significancers886052308RCV000298708; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755109547551095416:g.75510954C>A-
NM_021615.5(CHST6):c.*1566T>G4166CHST6Benignrs4888432RCV000370154; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755109737551097316:g.75510973A>C-
NM_021615.5(CHST6):c.*1526C>T4166CHST6Uncertain significancers148219139RCV000277843; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755110137551101316:g.75511013G>A-
NM_021615.5(CHST6):c.*1474C>G4166CHST6Uncertain significancers886052309RCV000330534; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755110657551106516:g.75511065G>C-
NM_021615.5(CHST6):c.*1426C>A4166CHST6Likely benignrs11861434RCV000387301; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755111137551111316:g.75511113G>T-
NM_021615.5(CHST6):c.*1407C>G4166CHST6Uncertain significancers117273298RCV000272133; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755111327551113216:g.75511132G>C-
NM_021615.5(CHST6):c.*1377G>A4166CHST6Uncertain significancers140231054RCV000329559; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755111627551116216:g.75511162C>T-
NM_021615.5(CHST6):c.*1375G>A4166CHST6Likely benignrs116020927RCV000381709; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755111647551116416:g.75511164C>T-
NM_021615.5(CHST6):c.*1374C>T4166CHST6Uncertain significancers564966292RCV000289703; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755111657551116516:g.75511165G>A-
NM_021615.5(CHST6):c.*1324C>T4166CHST6Uncertain significancers886052310RCV000342463; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755112157551121516:g.75511215G>A-
NM_021615.5(CHST6):c.*1316A>C4166CHST6Uncertain significancers773150182RCV000376071; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755112237551122316:g.75511223T>G-
NM_021615.5(CHST6):c.*1295T>C4166CHST6Uncertain significancers886052311RCV000283970; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755112447551124416:g.75511244A>G-
NM_021615.5(CHST6):c.*1118A>G4166CHST6Uncertain significancers191429909RCV000336744; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755114217551142116:g.75511421T>C-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1058G>T4166CHST6Uncertain significancers137868909RCV000397840; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755114817551148116:g.75511481C>A-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1058G>A4166CHST6Uncertain significancers137868909RCV000301338; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755114817551148116:g.75511481C>T-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1047G>T4166CHST6Likely benignrs77687996RCV000337539; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755114927551149216:g.75511492C>A-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1031A>G4166CHST6Uncertain significancers886052312RCV000397843; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755115087551150816:g.75511508T>C-C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*984G>C4166CHST6Uncertain significancers886052313RCV000311729; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755115557551155516:g.75511555C>G-
NM_021615.5(CHST6):c.*972C>A4166CHST6Uncertain significancers561639379RCV000371109; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755115677551156716:g.75511567G>T-
NM_021615.5(CHST6):c.*955C>T4166CHST6Likely benignrs116535181RCV000390266; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755115847551158416:g.75511584G>A-
NM_021615.5(CHST6):c.*794A>C4166CHST6Uncertain significancers886052314RCV000308223; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755117457551174516:g.75511745T>G-
NM_021615.5(CHST6):c.*751C>T4166CHST6Uncertain significancers780235353RCV000362717; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755117887551178816:g.75511788G>A-
NM_021615.5(CHST6):c.*712G>A4166CHST6Uncertain significancers565082451RCV000272815; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755118277551182716:g.75511827C>T-
NM_021615.5(CHST6):c.*687C>A4166CHST6Uncertain significancers886052315RCV000327910; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755118527551185216:g.75511852G>T-
NM_021615.5(CHST6):c.*606G>A4166CHST6Uncertain significancers117741124RCV000359353; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755119337551193316:g.75511933C>T-
NM_021615.5(CHST6):c.*588T>G4166CHST6Uncertain significancers886052316RCV000264350; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755119517551195116:g.75511951A>C-
NM_021615.5(CHST6):c.*522G>C4166CHST6Uncertain significancers770900838RCV000324151; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755120177551201716:g.75512017C>G-
NM_021615.5(CHST6):c.*488_*490del4166CHST6Uncertain significancers886052317RCV000378681; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755120497551205116:g.75512049_75512051del-
NM_021615.5(CHST6):c.*472G>C4166CHST6Uncertain significancers886052318RCV000279584; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755120677551206716:g.75512067C>G-
NM_021615.5(CHST6):c.*377G>A4166CHST6Likely benignrs138647317RCV000316131; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755121627551216216:g.75512162C>T-
NM_021615.5(CHST6):c.*242_*243insG4166CHST6Benignrs11436257RCV000375415; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755122967551229716:g.75512296_75512297insC-
NM_021615.5(CHST6):c.*242T>C4166CHST6Uncertain significancers886052319RCV000280938; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755122977551229716:g.75512297A>G-
NM_021615.5(CHST6):c.*241C>T4166CHST6Uncertain significancers886052320RCV000349917; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755122987551229816:g.75512298G>A-
NM_021615.5(CHST6):c.*139A>G4166CHST6Uncertain significancers149297341RCV000403175; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755124007551240016:g.75512400T>C-
NM_021615.5(CHST6):c.*33G>C4166CHST6Uncertain significancers376468061RCV000295708; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755125067551250616:g.75512506C>G-
NM_021615.5(CHST6):c.1181G>A (p.Arg394Gln)4166CHST6Uncertain significancers139042144RCV000350676; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755125467551254616:g.75512546C>T-
NM_021615.5(CHST6):c.1082T>C (p.Val361Ala)4166CHST6Uncertain significancers150880663RCV000397063; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755126457551264516:g.75512645A>G-
NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys)4166CHST6Uncertain significancers745660697RCV000306656; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755126977551269716:g.75512697G>A-
NM_021615.5(CHST6):c.987C>T (p.Val329=)4166CHST6Uncertain significancers369751938RCV000365962; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755127407551274016:g.75512740G>A-
NM_021615.5(CHST6):c.918C>T (p.Ile306=)4166CHST6Uncertain significancers576445739RCV000397048; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755128097551280916:g.75512809G>A-
NM_021615.5(CHST6):c.892C>T (p.Gln298Ter)4166CHST6Pathogenicrs886052321RCV000303034; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755128357551283516:g.75512835G>A-
NM_021615.5(CHST6):c.857C>T (p.Ala286Val)4166CHST6Uncertain significancers751949248RCV000361725; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755128707551287016:g.75512870G>A-
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro)4166CHST6Pathogenicrs121917824RCV000005383; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755129007551290016:g.75512900A>GOMIM Allelic Variant:605294.0008,UniProtKB (protein):Q9GZX3#VAR_021468C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser)4166CHST6Uncertain significancers547928453RCV000267043; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755130097551300916:g.75513009G>T-
NM_021615.5(CHST6):c.708C>T (p.Asp236=)4166CHST6Uncertain significancers779128434RCV000317606; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755130197551301916:g.75513019G>A-
NM_021615.5(CHST6):c.666C>T (p.Asn222=)4166CHST6Conflicting interpretations of pathogenicityrs148529501RCV000353686; RCV000887065; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:418054005; MedGen:CN51720216755130617551306116:g.75513061G>A-
NM_021615.5(CHST6):c.609C>A (p.Asp203Glu)4166CHST6Pathogenicrs28937878RCV000005376; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755131187551311816:g.75513118G>TOMIM Allelic Variant:605294.0002,UniProtKB (protein):Q9GZX3#VAR_021453C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)4166CHST6Pathogenicrs28937879RCV000005379; RCV000005380; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:418054005; MedGen:C169101316755131287551312816:g.75513128A>COMIM Allelic Variant:605294.0005,UniProtKB (protein):Q9GZX3#VAR_021451C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.521A>G (p.Lys174Arg)4166CHST6Pathogenicrs28937877RCV000005375; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755132067551320616:g.75513206T>COMIM Allelic Variant:605294.0001,UniProtKB (protein):Q9GZX3#VAR_021448C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly)4166CHST6Benign/Likely benignrs117435647RCV000318543; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755132437551324316:g.75513243G>CUniProtKB (protein):Q9GZX3#VAR_021446
NM_021615.5(CHST6):c.465G>A (p.Arg155=)4166CHST6Conflicting interpretations of pathogenicityrs141905571RCV000387102; RCV000859786; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:418054005; MedGen:CN51720216755132627551326216:g.75513262C>T-
NM_021615.5(CHST6):c.392C>T (p.Ser131Leu)4166CHST6Uncertain significancers375059043RCV000778477; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755133357551333516:g.75513335G>A-
NM_021615.5(CHST6):c.329A>G (p.Tyr110Cys)4166CHST6Pathogenicrs72547544RCV000005382; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755133987551339816:g.75513398T>COMIM Allelic Variant:605294.0007,UniProtKB (protein):Q9GZX3#VAR_021439C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)4166CHST6Pathogenicrs121917822RCV000005381; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755134237551342316:g.75513423A>COMIM Allelic Variant:605294.0006,UniProtKB (protein):Q9GZX3#VAR_021435C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.258A>C (p.Ala86=)4166CHST6Benign/Likely benignrs61740901RCV000292878; RCV000859837; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:418054005; MedGen:CN51720216755134697551346916:g.75513469T>G-
NM_021615.5(CHST6):c.196G>C (p.Val66Leu)4166CHST6Uncertain significancers72547547RCV000778478; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755135317551353116:g.75513531C>G-
NM_021615.5(CHST6):c.129G>A (p.Val43=)4166CHST6Conflicting interpretations of pathogenicityrs112939575RCV000334104; RCV000974692; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:418054005; MedGen:CN51720216755135987551359816:g.75513598C>T-
NM_021615.5(CHST6):c.120C>T (p.Arg40=)4166CHST6Benign/Likely benignrs61740904RCV000388573; RCV000962419; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:418054005; MedGen:CN51720216755136077551360716:g.75513607G>A-
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu)4166CHST6Uncertain significancers1443299574RCV000660545; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755136417551364116:g.75513641G>A-
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter)4166CHST6Uncertain significancers753928736RCV000778479; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755137217551372116:g.75513721C>T-
NM_021615.5(CHST6):c.-21C>A4166CHST6Uncertain significancers886052322RCV000289481; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755157197551571916:g.75515719G>T-
NM_021615.5(CHST6):c.-66C>G4166CHST6Uncertain significancers886052323RCV000344519; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755157647551576416:g.75515764G>C-
NM_021615.5(CHST6):c.-78T>C4166CHST6Likely benignrs114012239RCV000405327; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755157767551577616:g.75515776A>G-
NM_021615.5(CHST6):c.-115C>G4166CHST6Uncertain significancers886052324RCV000290791; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755288617552886116:g.75528861G>C-
NM_021615.5(CHST6):c.-154T>A4166CHST6Uncertain significancers886052325RCV000341211; NMedGen:C1636149,OMIM:217800, Orphanet:ORPHA98969,SNOMED CT:41805400516755289007552890016:g.75528900A>T-
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