MSeqDR Mitochondrial Disease Portal


 
*: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>T4166CHST6Benignrs541989548RCV000296940; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550707475507074GA16:g.75507074G>AClinGen:CA10638360
NM_021615.5(CHST6):c.*5452G>C4166CHST6Uncertain significancers886052293RCV000354191; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550708775507087CG16:g.75507087C>GClinGen:CA10644235
NM_021615.5(CHST6):c.*5445G>A4166CHST6Benignrs10871313RCV000275809; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550709475507094CT16:g.75507094C>TClinGen:CA10644236
NM_021615.5(CHST6):c.*5441C>T4166CHST6Benignrs74742116RCV000333196; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550709875507098GA16:g.75507098G>AClinGen:CA10644239
NM_021615.5(CHST6):c.*5311T>C4166CHST6Uncertain significance-1RCV001118984; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550722875507228AG16:g.75507228A>G-
NM_021615.5(CHST6):c.*5286A>T4166CHST6Benignrs9923834RCV000366953; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550725375507253TA16:g.75507253T>AClinGen:CA10648946
NM_021615.5(CHST6):c.*5208C>T4166CHST6Uncertain significance-1RCV001118985; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550733175507331GA16:g.75507331G>A-
NM_021615.5(CHST6):c.*5197C>T4166CHST6Likely benign-1RCV001120953; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550734275507342GA16:g.75507342G>A-
NM_021615.5(CHST6):c.*5190T>A4166CHST6Uncertain significance-1RCV001120954; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550734975507349AT16:g.75507349A>T-
NM_021615.5(CHST6):c.*5187T>G4166CHST6Benignrs28710075RCV000274686; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550735275507352AC16:g.75507352A>CClinGen:CA10648061
NM_021615.5(CHST6):c.*5183G>A4166CHST6Uncertain significancers886052294RCV000327485; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550735675507356CT16:g.75507356C>TClinGen:CA10648947
NM_021615.5(CHST6):c.*5182C>G4166CHST6Uncertain significance-1RCV001120955; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550735775507357GC16:g.75507357G>C-
NM_021615.5(CHST6):c.*5150G>A4166CHST6Uncertain significancers777374430RCV000384425; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550738975507389CT16:g.75507389C>TClinGen:CA10648948
NM_021615.5(CHST6):c.*5149C>T4166CHST6Uncertain significance-1RCV001120956; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550739075507390GA16:g.75507390G>A-
NM_021615.5(CHST6):c.*5011G>A4166CHST6Uncertain significance-1RCV001120957; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550752875507528CT16:g.75507528C>T-
NM_021615.5(CHST6):c.*4981C>T4166CHST6Uncertain significance-1RCV001116028; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550755875507558GA16:g.75507558G>A-
NM_021615.5(CHST6):c.*4970T>C4166CHST6Uncertain significancers886052295RCV000289429; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550756975507569AG16:g.75507569A>GClinGen:CA10638364
NM_021615.5(CHST6):c.*4942C>T4166CHST6Uncertain significance-1RCV001116029; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550759775507597GA16:g.75507597G>A-
NM_021615.5(CHST6):c.*4880G>A4166CHST6Likely benignrs76741848RCV000323367; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550765975507659CT16:g.75507659C>TClinGen:CA10648063
NM_021615.5(CHST6):c.*4749G>T4166CHST6Uncertain significance-1RCV001116030; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550779075507790CA16:g.75507790C>A-
NM_021615.5(CHST6):c.*4605C>T4166CHST6Benignrs150105169RCV000380271; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550793475507934GA16:g.75507934G>AClinGen:CA10648949
NM_021615.5(CHST6):c.*4589C>T4166CHST6Uncertain significance-1RCV001116031; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550795075507950GA16:g.75507950G>A-
NM_021615.5(CHST6):c.*4586T>C4166CHST6Uncertain significancers535487354RCV000283489; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550795375507953AG16:g.75507953A>GClinGen:CA10638365
NM_021615.5(CHST6):c.*4574G>C4166CHST6Uncertain significance-1RCV001117480; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550796575507965CG16:g.75507965C>G-
NM_021615.5(CHST6):c.*4573C>T4166CHST6Uncertain significance-1RCV001117481; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550796675507966GA16:g.75507966G>A-
NM_021615.5(CHST6):c.*4566A>G4166CHST6Uncertain significance-1RCV001117482; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550797375507973TC16:g.75507973T>C-
NM_021615.5(CHST6):c.*4497G>A4166CHST6Uncertain significancers886052296RCV000340763; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550804275508042CT16:g.75508042C>TClinGen:CA10644240
NM_021615.5(CHST6):c.*4494G>C4166CHST6Uncertain significance-1RCV001117483; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550804575508045CG16:g.75508045C>G-
NM_021615.5(CHST6):c.*4487C>T4166CHST6Likely benignrs182168641RCV000397870; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550805275508052GA16:g.75508052G>AClinGen:CA10648067
NM_021615.5(CHST6):c.*4470C>T4166CHST6Uncertain significancers886052297RCV000282309; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550806975508069GA16:g.75508069G>AClinGen:CA10644248
NM_021615.5(CHST6):c.*4460T>G4166CHST6Uncertain significance-1RCV001117484; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550807975508079AC16:g.75508079A>C-
NM_021615.5(CHST6):c.*4444A>G4166CHST6Uncertain significance-1RCV001119082; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550809575508095TC16:g.75508095T>C-
NM_021615.5(CHST6):c.*4373dup4166CHST6Uncertain significancers775614448RCV000334959; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550816575508166TTA16:g.75508165_75508166insAClinGen:CA10648072
NM_021615.5(CHST6):c.*4366T>C4166CHST6Benignrs37606RCV000397873; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550817375508173AG16:g.75508173A>GClinGen:CA10648073
NM_021615.5(CHST6):c.*4325A>G4166CHST6Uncertain significance-1RCV001119083; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550821475508214TC16:g.75508214T>C-
NM_021615.5(CHST6):c.*4305T>C4166CHST6Benignrs11641249RCV000314329; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550823475508234AG16:g.75508234A>GClinGen:CA10644249
NM_021615.5(CHST6):c.*4291T>C4166CHST6Uncertain significance-1RCV001119084; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550824875508248AG16:g.75508248A>G-
NM_021615.5(CHST6):c.*4290A>C4166CHST6Uncertain significancers886052298RCV000371356; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550824975508249TG16:g.75508249T>GClinGen:CA10638366
NM_021615.5(CHST6):c.*4238A>G4166CHST6Uncertain significance-1RCV001119085; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550830175508301TC16:g.75508301T>C-
NM_021615.5(CHST6):c.*4155C>T4166CHST6Benignrs114790233RCV000399352; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550838475508384GA16:g.75508384G>AClinGen:CA10648075
NM_021615.5(CHST6):c.*4086G>A4166CHST6Benignrs12918234RCV000313212; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550845375508453CT16:g.75508453C>TClinGen:CA10648950
NM_021615.5(CHST6):c.*4085C>T4166CHST6Uncertain significancers144466579RCV000365513; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550845475508454GA16:g.75508454G>AClinGen:CA10648952
NM_021615.5(CHST6):c.*4003T>C4166CHST6Uncertain significance-1RCV001121046; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550853675508536AG16:g.75508536A>G-
NM_021615.5(CHST6):c.*3992T>C4166CHST6Benignrs8063344RCV000273216; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550854775508547AG16:g.75508547A>GClinGen:CA10648953
NM_021615.5(CHST6):c.*3983G>A4166CHST6Uncertain significance-1RCV001121047; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550855675508556CT16:g.75508556C>T-
NM_021615.5(CHST6):c.*3947C>T4166CHST6Uncertain significance-1RCV001121048; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550859275508592GA16:g.75508592G>A-
NM_021615.5(CHST6):c.*3917G>A4166CHST6Likely benign-1RCV001121049; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550862275508622CT16:g.75508622C>T-
NM_021615.5(CHST6):c.*3883T>G4166CHST6Likely benign-1RCV001116140; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550865675508656AC16:g.75508656A>C-
NM_021615.5(CHST6):c.*3828A>T4166CHST6Benignrs56769615RCV000325969; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550871175508711TA16:g.75508711T>AClinGen:CA10648954
NM_021615.5(CHST6):c.*3819G>C4166CHST6Benignrs8063068RCV000363334; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550872075508720CG16:g.75508720C>GClinGen:CA10638370
NM_021615.5(CHST6):c.*3815G>A4166CHST6Uncertain significancers563939196RCV000266321; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550872475508724CT16:g.75508724C>TClinGen:CA10648076
NM_021615.5(CHST6):c.*3814C>G4166CHST6Uncertain significance-1RCV001116141; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550872575508725GC16:g.75508725G>C-
NM_021615.5(CHST6):c.*3811A>C4166CHST6Uncertain significancers776294697RCV000323879; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550872875508728TG16:g.75508728T>GClinGen:CA10648955
NM_021615.5(CHST6):c.*3750C>A4166CHST6Benignrs142693604RCV000376119; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550878975508789GT16:g.75508789G>TClinGen:CA10638373
NM_021615.5(CHST6):c.*3742C>T4166CHST6Benignrs56116092RCV000284052; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550879775508797GA16:g.75508797G>AClinGen:CA10648956
NM_021615.5(CHST6):c.*3679T>C4166CHST6Uncertain significancers886052299RCV000318125; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550886075508860AG16:g.75508860A>GClinGen:CA10644252
NM_021615.5(CHST6):c.*3656C>A4166CHST6Uncertain significance-1RCV001117575; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550888375508883GT16:g.75508883G>T-
NM_021615.5(CHST6):c.*3643_*3644del4166CHST6Uncertain significancers563605488RCV000375076; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550889575508896TTGT16:g.75508895_75508896delClinGen:CA10648077
NM_021615.5(CHST6):c.*3621A>G4166CHST6Benignrs139900788RCV000278920; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550891875508918TC16:g.75508918T>CClinGen:CA10638374C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3608A>C4166CHST6Uncertain significance-1RCV001117576; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550893175508931TG16:g.75508931T>G-
NM_021615.5(CHST6):c.*3602C>T4166CHST6Uncertain significance-1RCV001117577; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550893775508937GA16:g.75508937G>A-
NM_021615.5(CHST6):c.*3547C>T4166CHST6Uncertain significance-1RCV001117578; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550899275508992GA16:g.75508992G>A-
NM_021615.5(CHST6):c.*3516T>C4166CHST6Uncertain significancers886052300RCV000336273; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550902375509023AG16:g.75509023A>GClinGen:CA10644254C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3490T>C4166CHST6Uncertain significancers886052301RCV000405978; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550904975509049AG16:g.75509049A>GClinGen:CA10644264C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3465T>C4166CHST6Benign-1RCV001119178; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550907475509074AG16:g.75509074A>G-
NM_021615.5(CHST6):c.*3441A>T4166CHST6Uncertain significancers529530566RCV000296385; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550909875509098TA16:g.75509098T>AClinGen:CA10638376C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*3364C>A4166CHST6Likely benignrs189970730RCV000349028; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550917575509175GT16:g.75509175G>TClinGen:CA10648958
NM_021615.5(CHST6):c.*3297C>T4166CHST6Uncertain significance-1RCV001119179; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550924275509242GA16:g.75509242G>A-
NM_021615.5(CHST6):c.*3240A>G4166CHST6Uncertain significance-1RCV001119180; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550929975509299TC16:g.75509299T>C-
NM_021615.5(CHST6):c.*3223_*3224CT[1]4166CHST6Benignrs5817947RCV000396947; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550931375509314CAGC16:g.75509313_75509314delClinGen:CA10648960
NM_021615.5(CHST6):c.*3082G>A4166CHST6Uncertain significancers150839584RCV000309162; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550945775509457CT16:g.75509457C>TClinGen:CA10644266
NM_021615.5(CHST6):c.*3078G>A4166CHST6Uncertain significancers375112875RCV000366320; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550946175509461CT16:g.75509461C>TClinGen:CA10638377
NM_021615.5(CHST6):c.*2962G>A4166CHST6Uncertain significance-1RCV001119181; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550957775509577CT16:g.75509577C>T-
NM_021615.5(CHST6):c.*2956G>A4166CHST6Benignrs11860278RCV000399167; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550958375509583CT16:g.75509583C>TClinGen:CA10638379
NM_021615.5(CHST6):c.*2955C>T4166CHST6Likely benignrs76087215RCV000304329; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550958475509584GA16:g.75509584G>AClinGen:CA10648078
NM_021615.5(CHST6):c.*2947G>T4166CHST6Likely benignrs112154704RCV000361407; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550959275509592CA16:g.75509592C>AClinGen:CA10648079
NM_021615.5(CHST6):c.*2902dup4166CHST6Uncertain significancers886052302RCV000264274; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550963675509637AAG16:g.75509636_75509637insGClinGen:CA10644267
NM_021615.5(CHST6):c.*2836T>C4166CHST6Uncertain significancers886052303RCV000302994; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550970375509703AG16:g.75509703A>GClinGen:CA10638380
NM_021615.5(CHST6):c.*2833T>G4166CHST6Benign-1RCV001121173; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550970675509706AC16:g.75509706A>C-
NM_021615.5(CHST6):c.*2770T>G4166CHST6Uncertain significance-1RCV001121174; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550976975509769AC16:g.75509769A>C-
NM_021615.5(CHST6):c.*2652C>T4166CHST6Uncertain significancers548748758RCV000355758; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550988775509887GA16:g.75509887G>AClinGen:CA10644268
NM_021615.5(CHST6):c.*2635G>A4166CHST6Uncertain significance-1RCV001121175; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167550990475509904CT16:g.75509904C>T-
NM_021615.5(CHST6):c.*2503G>A4166CHST6Uncertain significancers534652248RCV000263310; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551003675510036CT16:g.75510036C>TClinGen:CA10638381
NM_021615.5(CHST6):c.*2450C>G4166CHST6Uncertain significance-1RCV001116252; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551008975510089GC16:g.75510089G>C-
NM_021615.5(CHST6):c.*2437C>T4166CHST6Uncertain significancers886052304RCV000316059; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551010275510102GA16:g.75510102G>AClinGen:CA10648080
NM_021615.5(CHST6):c.*2433A>C4166CHST6Uncertain significancers886052305RCV000373049; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551010675510106TG16:g.75510106T>GClinGen:CA10638385
NM_021615.5(CHST6):c.*2426T>C4166CHST6Likely benign-1RCV001116253; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551011375510113AG16:g.75510113A>G-
NM_021615.5(CHST6):c.*2417C>T4166CHST6Likely benignrs188632926RCV000275736; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551012275510122GA16:g.75510122G>AClinGen:CA10638386
NM_021615.5(CHST6):c.*2327C>T4166CHST6Benignrs185053RCV000333127; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551021275510212GA16:g.75510212G>AClinGen:CA10648083
NM_021615.5(CHST6):c.*2288T>G4166CHST6Benignrs147960476RCV000385397; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551025175510251AC16:g.75510251A>CClinGen:CA10648962
NM_021615.5(CHST6):c.*2210C>G4166CHST6Likely benignrs111315694RCV000293439; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551032975510329GC16:g.75510329G>CClinGen:CA10644271
NM_021615.5(CHST6):c.*2131C>T4166CHST6Uncertain significance-1RCV001117698; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551040875510408GA16:g.75510408G>A-
NM_021615.5(CHST6):c.*2080del4166CHST6Uncertain significancers36092135RCV000346062; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551045975510459CAC16:g.75510459_75510459delClinGen:CA10648085
NM_021615.5(CHST6):c.*2055del4166CHST6Uncertain significancers886052307RCV000384326; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551048475510484ATA16:g.75510484_75510484delClinGen:CA10644282
NM_021615.5(CHST6):c.*2050G>A4166CHST6Uncertain significance-1RCV001117699; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551048975510489CT16:g.75510489C>T-
NM_021615.5(CHST6):c.*2024C>G4166CHST6Benignrs7193828RCV000287771; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551051575510515GC16:g.75510515G>CClinGen:CA10644283
NM_021615.5(CHST6):c.*1967C>T4166CHST6Benignrs42967RCV000345069; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551057275510572GA16:g.75510572G>AClinGen:CA10638388
NM_021615.5(CHST6):c.*1919C>T4166CHST6Benignrs7194035RCV000395234; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551062075510620GA16:g.75510620G>AClinGen:CA10648086
NM_021615.5(CHST6):c.*1914A>G4166CHST6Likely benignrs143764747RCV000305948; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551062575510625TC16:g.75510625T>CClinGen:CA10638390
NM_021615.5(CHST6):c.*1892del4166CHST6Benignrs35225560RCV000339678; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551064775510647CTC16:g.75510647_75510647delClinGen:CA10638392C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1836G>A4166CHST6Uncertain significance-1RCV001119264; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551070375510703CT16:g.75510703C>T-
NM_021615.5(CHST6):c.*1811G>A4166CHST6Uncertain significancers577093724RCV000395231; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551072875510728CT16:g.75510728C>TClinGen:CA10638396
NM_021615.5(CHST6):c.*1810C>T4166CHST6Uncertain significancers111307793RCV000299816; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551072975510729GA16:g.75510729G>AClinGen:CA10648963
NM_021615.5(CHST6):c.*1758A>T4166CHST6Uncertain significancers571537815RCV000356973; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551078175510781TA16:g.75510781T>AClinGen:CA10648087
NM_021615.5(CHST6):c.*1652G>A4166CHST6Uncertain significance-1RCV001119265; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551088775510887CT16:g.75510887C>T-
NM_021615.5(CHST6):c.*1597T>G4166CHST6Uncertain significancers866541400RCV000259878; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551094275510942AC16:g.75510942A>CClinGen:CA10648971
NM_021615.5(CHST6):c.*1585G>T4166CHST6Uncertain significancers886052308RCV000298708; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551095475510954CA16:g.75510954C>AClinGen:CA10648972
NM_021615.5(CHST6):c.*1566T>G4166CHST6Benignrs4888432RCV000370154; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551097375510973AC16:g.75510973A>CClinGen:CA10638397
NM_021615.5(CHST6):c.*1526C>T4166CHST6Uncertain significancers148219139RCV000277843; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551101375511013GA16:g.75511013G>AClinGen:CA10644288
NM_021615.5(CHST6):c.*1474C>G4166CHST6Uncertain significancers886052309RCV000330534; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551106575511065GC16:g.75511065G>CClinGen:CA10638398
NM_021615.5(CHST6):c.*1426C>A4166CHST6Benignrs11861434RCV000387301; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551111375511113GT16:g.75511113G>TClinGen:CA10644289
NM_021615.5(CHST6):c.*1407C>G4166CHST6Uncertain significancers117273298RCV000272133; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551113275511132GC16:g.75511132G>CClinGen:CA10648088
NM_021615.5(CHST6):c.*1377G>A4166CHST6Likely benignrs140231054RCV000329559; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551116275511162CT16:g.75511162C>TClinGen:CA10648973
NM_021615.5(CHST6):c.*1375G>A4166CHST6Benignrs116020927RCV000381709; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551116475511164CT16:g.75511164C>TClinGen:CA10648976
NM_021615.5(CHST6):c.*1374C>T4166CHST6Uncertain significancers564966292RCV000289703; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551116575511165GA16:g.75511165G>AClinGen:CA10638399
NM_021615.5(CHST6):c.*1324C>T4166CHST6Uncertain significancers886052310RCV000342463; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551121575511215GA16:g.75511215G>AClinGen:CA10648089
NM_021615.5(CHST6):c.*1316A>C4166CHST6Uncertain significancers773150182RCV000376071; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551122375511223TG16:g.75511223T>GClinGen:CA10648978
NM_021615.5(CHST6):c.*1295T>C4166CHST6Uncertain significancers886052311RCV000283970; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551124475511244AG16:g.75511244A>GClinGen:CA10648093
NM_021615.5(CHST6):c.*1118A>G4166CHST6Likely benignrs191429909RCV000336744; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551142175511421TC16:g.75511421T>CClinGen:CA10648098C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1058G>T4166CHST6Uncertain significancers137868909RCV000397840; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551148175511481CA16:g.75511481C>AClinGen:CA10644291C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1058G>A4166CHST6Benignrs137868909RCV000301338; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551148175511481CT16:g.75511481C>TClinGen:CA10648979C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1047G>T4166CHST6Benignrs77687996RCV000337539; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551149275511492CA16:g.75511492C>AClinGen:CA10644295C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*1031A>G4166CHST6Uncertain significancers886052312RCV000397843; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551150875511508TC16:g.75511508T>CClinGen:CA10648980C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.*991A>G4166CHST6Benign-1RCV001116350; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551154875511548TC16:g.75511548T>C-
NM_021615.5(CHST6):c.*984G>C4166CHST6Uncertain significancers886052313RCV000311729; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551155575511555CG16:g.75511555C>GClinGen:CA10648099
NM_021615.5(CHST6):c.*972C>A4166CHST6Uncertain significancers561639379RCV000371109; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551156775511567GT16:g.75511567G>TClinGen:CA10644296
NM_021615.5(CHST6):c.*955C>T4166CHST6Benignrs116535181RCV000390266; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551158475511584GA16:g.75511584G>AClinGen:CA10648983
NM_021615.5(CHST6):c.*824G>A4166CHST6Uncertain significance-1RCV001117799; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551171575511715CT16:g.75511715C>T-
NM_021615.5(CHST6):c.*818G>A4166CHST6Uncertain significance-1RCV001117800; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551172175511721CT16:g.75511721C>T-
NM_021615.5(CHST6):c.*794A>C4166CHST6Uncertain significancers886052314RCV000308223; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551174575511745TG16:g.75511745T>GClinGen:CA10648101
NM_021615.5(CHST6):c.*751C>T4166CHST6Uncertain significancers780235353RCV000362717; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551178875511788GA16:g.75511788G>AClinGen:CA10638400
NM_021615.5(CHST6):c.*712G>A4166CHST6Uncertain significancers565082451RCV000272815; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551182775511827CT16:g.75511827C>TClinGen:CA10648103
NM_021615.5(CHST6):c.*687C>A4166CHST6Uncertain significancers886052315RCV000327910; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551185275511852GT16:g.75511852G>TClinGen:CA10644300
NM_021615.5(CHST6):c.*606G>A4166CHST6Benignrs117741124RCV000359353; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551193375511933CT16:g.75511933C>TClinGen:CA10648984
NM_021615.5(CHST6):c.*588T>G4166CHST6Uncertain significancers886052316RCV000264350; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551195175511951AC16:g.75511951A>CClinGen:CA10644301
NM_021615.5(CHST6):c.*522G>C4166CHST6Uncertain significancers770900838RCV000324151; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551201775512017CG16:g.75512017C>GClinGen:CA10648104
NM_021615.5(CHST6):c.*488_*490del4166CHST6Uncertain significancers886052317RCV000378681; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551204975512051CCTTC16:g.75512049_75512051delClinGen:CA10648105
NM_021615.5(CHST6):c.*472G>C4166CHST6Uncertain significancers886052318RCV000279584; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551206775512067CG16:g.75512067C>GClinGen:CA10648985
NM_021615.5(CHST6):c.*435C>T4166CHST6Likely benign-1RCV001119365; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551210475512104GA16:g.75512104G>A-
NM_021615.5(CHST6):c.*377G>A4166CHST6Benignrs138647317RCV000316131; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551216275512162CT16:g.75512162C>TClinGen:CA10644302
NM_021615.5(CHST6):c.*242_*243insG4166CHST6Benignrs11436257RCV000375415; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551229675512297GGC16:g.75512296_75512297insCClinGen:CA10638408
NM_021615.5(CHST6):c.*242T>C4166CHST6Uncertain significancers886052319RCV000280938; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551229775512297AG16:g.75512297A>GClinGen:CA10648990
NM_021615.5(CHST6):c.*241C>T4166CHST6Uncertain significancers886052320RCV000349917; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551229875512298GA16:g.75512298G>AClinGen:CA10648993
NM_021615.5(CHST6):c.*164G>T4166CHST6Uncertain significance-1RCV001121366; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551237575512375CA16:g.75512375C>A-
NM_021615.5(CHST6):c.*139A>G4166CHST6Uncertain significancers149297341RCV000403175; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551240075512400TC16:g.75512400T>CClinGen:CA10644304
NM_021615.5(CHST6):c.*106G>T4166CHST6Uncertain significance-1RCV001121367; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551243375512433CA16:g.75512433C>A-
NM_021615.5(CHST6):c.*68G>T4166CHST6Uncertain significance-1RCV001121368; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551247175512471CA16:g.75512471C>A-
NM_021615.5(CHST6):c.*33G>C4166CHST6Uncertain significancers376468061RCV000295708; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551250675512506CG16:g.75512506C>GClinGen:CA8175256
NM_021615.5(CHST6):c.*13T>C4166CHST6Uncertain significance-1RCV001121369; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551252675512526AG16:g.75512526A>G-
NM_021615.5(CHST6):c.1181G>A (p.Arg394Gln)4166CHST6Uncertain significancers139042144RCV000350676; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551254675512546CT16:g.75512546C>TClinGen:CA8175268
NM_021615.5(CHST6):c.1124T>G (p.Val375Gly)4166CHST6Uncertain significance-1RCV001116450; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551260375512603AC16:g.75512603A>C-
NM_021615.5(CHST6):c.1113C>G (p.Ala371=)4166CHST6Uncertain significance-1RCV001116451; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551261475512614GC16:g.75512614G>C-
NM_021615.5(CHST6):c.1101G>A (p.Gln367=)4166CHST6Uncertain significance-1RCV001116452; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551262675512626CT16:g.75512626C>T-
NM_021615.5(CHST6):c.1096G>A (p.Glu366Lys)4166CHST6Uncertain significance-1RCV001207736; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551263175512631CT16:g.75512631C>T-
NM_021615.5(CHST6):c.1082T>C (p.Val361Ala)4166CHST6Uncertain significancers150880663RCV000397063; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551264575512645AG16:g.75512645A>GClinGen:CA8175297
NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys)4166CHST6Uncertain significancers745660697RCV000306656; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551269775512697GA16:g.75512697G>AClinGen:CA8175322
NM_021615.5(CHST6):c.993G>T (p.Gln331His)4166CHST6Conflicting interpretations of pathogenicityrs140699573RCV000177326|RCV000885002; NMedGen:CN169374|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551273475512734CA16:g.75512734C>AClinGen:CA243479CN169374 not specified;
NM_021615.5(CHST6):c.987C>T (p.Val329=)4166CHST6Uncertain significancers369751938RCV000365962; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551274075512740GA16:g.75512740G>AClinGen:CA8175333
NM_021615.5(CHST6):c.918C>T (p.Ile306=)4166CHST6Uncertain significancers576445739RCV000397048; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551280975512809GA16:g.75512809G>AClinGen:CA8175352
NM_021615.5(CHST6):c.892C>T (p.Gln298Ter)4166CHST6Pathogenicrs886052321RCV000303034; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551283575512835GA16:g.75512835G>AClinGen:CA10648995
NM_021615.5(CHST6):c.857C>T (p.Ala286Val)4166CHST6Uncertain significancers751949248RCV000361725; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551287075512870GA16:g.75512870G>AClinGen:CA8175369
NM_021615.5(CHST6):c.828G>A (p.Leu276=)4166CHST6Benignrs140327212RCV000881933|RCV001117909; NMedGen:CN517202|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551289975512899CT16:g.75512899C>T-
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro)4166CHST6Pathogenicrs121917824RCV000005383; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551290075512900AG16:g.75512900A>GClinGen:CA250522,UniProtKB:Q9GZX3#VAR_021468,OMIM:605294.0008C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.768C>T (p.Ala256=)4166CHST6Benignrs146465655RCV000958719; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551295975512959GA16:g.75512959G>A-
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser)4166CHST6Uncertain significancers547928453RCV000267043; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551300975513009GT16:g.75513009G>TClinGen:CA8175415
NM_021615.5(CHST6):c.708C>T (p.Asp236=)4166CHST6Uncertain significancers779128434RCV000317606; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551301975513019GA16:g.75513019G>AClinGen:CA8175420
NM_021615.5(CHST6):c.666C>T (p.Asn222=)4166CHST6Benignrs148529501RCV000353686; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551306175513061GA16:g.75513061G>AClinGen:CA8175433
NM_021615.5(CHST6):c.656C>T (p.Ala219Val)4166CHST6Uncertain significance-1RCV001117910; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551307175513071GA16:g.75513071G>A-
NM_021615.5(CHST6):c.609C>A (p.Asp203Glu)4166CHST6Pathogenicrs28937878RCV000005376; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551311875513118GT16:g.75513118G>TClinGen:CA250519,UniProtKB:Q9GZX3#VAR_021453,OMIM:605294.0002C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)4166CHST6Pathogenicrs28937879RCV000005379|RCV000005380|RCV001091757; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969|MedGen:C1691013|MedGen:CN517202167551312875513128AC16:g.75513128A>CClinGen:CA117249,UniProtKB:Q9GZX3#VAR_021451,OMIM:605294.0005C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.573C>G (p.Pro191=)4166CHST6Uncertain significance-1RCV001119457; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551315475513154GC16:g.75513154G>C-
NM_021615.5(CHST6):c.539A>G (p.Asn180Ser)4166CHST6Uncertain significance-1RCV001119458; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551318875513188TC16:g.75513188T>C-
NM_021615.5(CHST6):c.521A>G (p.Lys174Arg)4166CHST6Pathogenicrs28937877RCV000005375; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551320675513206TC16:g.75513206T>CClinGen:CA250518,UniProtKB:Q9GZX3#VAR_021448,OMIM:605294.0001C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.496C>G (p.Arg166Gly)4166CHST6Uncertain significance-1RCV001119459; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551323175513231GC16:g.75513231G>C-
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly)4166CHST6Benignrs117435647RCV000318543; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551324375513243GC16:g.75513243G>CClinGen:CA8175487,UniProtKB:Q9GZX3#VAR_021446
NM_021615.5(CHST6):c.484C>A (p.Arg162=)4166CHST6Uncertain significance-1RCV001119460; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551324375513243GT16:g.75513243G>T-
NM_021615.5(CHST6):c.465G>A (p.Arg155=)4166CHST6Benignrs141905571RCV000387102; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551326275513262CT16:g.75513262C>TClinGen:CA8175491
NM_021615.5(CHST6):c.392C>T (p.Ser131Leu)4166CHST6Uncertain significancers375059043RCV000778477; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551333575513335GA16:g.75513335G>A-
NM_021615.5(CHST6):c.329A>G (p.Tyr110Cys)4166CHST6Pathogenicrs72547544RCV000005382; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551339875513398TC16:g.75513398T>CClinGen:CA250521,UniProtKB:Q9GZX3#VAR_021439,OMIM:605294.0007C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)4166CHST6Pathogenicrs121917822RCV000005381; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551342375513423AC16:g.75513423A>CClinGen:CA250520,UniProtKB:Q9GZX3#VAR_021435,OMIM:605294.0006C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.301C>T (p.Leu101=)4166CHST6Uncertain significance-1RCV001119461; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551342675513426GA16:g.75513426G>A-
NM_021615.5(CHST6):c.294C>G (p.Ser98=)4166CHST6Benignrs118144424RCV000546195; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551343375513433GC16:g.75513433G>CClinGen:CA8175534C1636149 217800 Macular corneal dystrophy Type I;
NM_021615.5(CHST6):c.258A>C (p.Ala86=)4166CHST6Benignrs61740901RCV000292878; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551346975513469TG16:g.75513469T>GClinGen:CA8175547
NM_021615.5(CHST6):c.237C>T (p.Thr79=)4166CHST6Benign/Likely benignrs112148613RCV000966304|RCV001121452; NMedGen:CN517202|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551349075513490GA16:g.75513490G>A-
NM_021615.5(CHST6):c.196G>C (p.Val66Leu)4166CHST6Uncertain significancers72547547RCV000778478; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551353175513531CG16:g.75513531C>G-
NM_021615.5(CHST6):c.130C>T (p.Leu44=)4166CHST6Benign/Likely benignrs140675009RCV000966305|RCV001121453; NMedGen:CN517202|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551359775513597GA16:g.75513597G>A-
NM_021615.5(CHST6):c.129G>A (p.Val43=)4166CHST6Benignrs112939575RCV000334104; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551359875513598CT16:g.75513598C>TClinGen:CA8175577
NM_021615.5(CHST6):c.120C>T (p.Arg40=)4166CHST6Benignrs61740904RCV000388573; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551360775513607GA16:g.75513607G>AClinGen:CA8175578
NM_021615.5(CHST6):c.115G>C (p.Ala39Pro)4166CHST6Uncertain significance-1RCV001121454; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551361275513612CG16:g.75513612C>G-
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu)4166CHST6Uncertain significancers1443299574RCV000660545; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551364175513641GA16:g.75513641G>A-
NM_021615.5(CHST6):c.24C>T (p.Ser8=)4166CHST6Uncertain significance-1RCV001121455; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551370375513703GA16:g.75513703G>A-
NM_021615.5(CHST6):c.15C>T (p.Arg5=)4166CHST6Uncertain significance-1RCV001121456; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551371275513712GA16:g.75513712G>A-
NM_021615.5(CHST6):c.7C>A (p.Leu3Met)4166CHST6Uncertain significance-1RCV001116563; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551372075513720GT16:g.75513720G>T-
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter)4166CHST6Uncertain significancers753928736RCV000778479; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551372175513721CT16:g.75513721C>T-
NM_021615.5(CHST6):c.-21C>A4166CHST6Uncertain significancers886052322RCV000289481; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551571975515719GT16:g.75515719G>TClinGen:CA10648996
NM_021615.5(CHST6):c.-66C>G4166CHST6Uncertain significancers886052323RCV000344519; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551576475515764GC16:g.75515764G>CClinGen:CA10638417
NM_021615.5(CHST6):c.-78T>C4166CHST6Likely benignrs114012239RCV000405327; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167551577675515776AG16:g.75515776A>GClinGen:CA10638422
NM_021615.5(CHST6):c.-115C>G4166CHST6Uncertain significancers886052324RCV000290791; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167552886175528861GC16:g.75528861G>CClinGen:CA10648109
NM_021615.5(CHST6):c.-154T>A4166CHST6Uncertain significancers886052325RCV000341211; NMONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969167552890075528900AT16:g.75528900A>TClinGen:CA10638423
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