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Parent Node:
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Corneal Dystrophies, Hereditary (D003317)
..Starting node
..expand
Corneal Dystrophy, Crystalline, of Schnyder (C535475)

       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:3012
Name:Corneal Dystrophy, Crystalline, of Schnyder
Definition:
Alternative IDs:DO:DOID:0060456|OMIM:121800
ParentIDs:MESH:D003317
TreeNumbers:C11.204.236/C535475 |C11.270.162/C535475 |C16.320.290.162/C535475
Synonyms:Corneal dystrophy crystalline of Schnyder |CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER |CORNEAL DYSTROPHY, SCHNYDER |SCCD |Schnyder corneal dystrophy |Schnyder crystalline corneal dystrophy
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C535475
MeSH: C535475
OMIM: 121800;
MSeqDR LSDB:  
Genes: UBIAD1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001131Corneal dystrophy
3 HP:0007760Crystalline corneal dystrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_013319.2(UBIAD1):c.-337C>T29914UBIAD1Uncertain significancers547031506RCV000322246; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133325211333252CT1:g.11333252C>TClinGen:CA10654421C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.-311C>T29914UBIAD1Uncertain significancers886045057RCV000298203; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133327811333278CT1:g.11333278C>TClinGen:CA10607525
NM_013319.3(UBIAD1):c.-310C>T29914UBIAD1Uncertain significance-1RCV001096648; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133327911333279CT1:g.11333279C>T-
NM_013319.2(UBIAD1):c.-195G>A29914UBIAD1Benignrs114907127RCV000359966; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133339411333394GA1:g.11333394G>AClinGen:CA10607319
NM_013319.2(UBIAD1):c.-104G>A29914UBIAD1Uncertain significancers559993089RCV000267590; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133348511333485GA1:g.11333485G>AClinGen:CA10607526
NM_013319.3(UBIAD1):c.-86G>C29914UBIAD1Uncertain significance-1RCV001096649; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133350311333503GC1:g.11333503G>C-
NM_013319.3(UBIAD1):c.-78G>C29914UBIAD1Uncertain significance-1RCV001096650; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133351111333511GC1:g.11333511G>C-
NM_013319.2(UBIAD1):c.-47T>G29914UBIAD1Benignrs72856992RCV000320369; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133354211333542TG1:g.11333542T>GClinGen:CA591058
NM_013319.2(UBIAD1):c.-4T>C29914UBIAD1Uncertain significancers770112579RCV000377189; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133358511333585TC1:g.11333585T>CClinGen:CA591074
NM_013319.2(UBIAD1):c.60A>C (p.Lys20Asn)29914UBIAD1Likely benignrs764215999RCV000271094; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133364811333648AC1:g.11333648A>CClinGen:CA591081
NM_013319.3(UBIAD1):c.116A>G (p.Gln39Arg)29914UBIAD1Likely benign-1RCV001098378; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133370411333704AG1:g.11333704A>G-
NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu)29914UBIAD1Uncertain significance-1RCV001098379; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133377911333779CT1:g.11333779C>T-
NM_013319.2(UBIAD1):c.224C>T (p.Ser75Phe)29914UBIAD1Benignrs114000606RCV000329450; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133381211333812CT1:g.11333812C>TClinGen:CA591108,UniProtKB:Q9Y5Z9#VAR_043713
NM_013319.3(UBIAD1):c.230G>A (p.Gly77Asp)29914UBIAD1Likely benign-1RCV001098380; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133381811333818GA1:g.11333818G>A-
NM_013319.2(UBIAD1):c.298T>G (p.Leu100Val)29914UBIAD1Benignrs140612649RCV000381691; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133388611333886TG1:g.11333886T>GClinGen:CA591126
NM_013319.2(UBIAD1):c.305A>G (p.Asn102Ser)29914UBIAD1Pathogenicrs118203945RCV000000904; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133389311333893AG1:g.11333893A>GClinGen:CA114575,UniProtKB:Q9Y5Z9#VAR_043714,OMIM:611632.0001C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.335A>G (p.Asp112Gly)29914UBIAD1Pathogenicrs118203950RCV000000909; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133392311333923AG1:g.11333923A>GClinGen:CA114580,UniProtKB:Q9Y5Z9#VAR_043715,OMIM:611632.0006C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.355A>G (p.Arg119Gly)29914UBIAD1Pathogenicrs118203947RCV000000906; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133394311333943AG1:g.11333943A>GClinGen:CA114577,UniProtKB:Q9Y5Z9#VAR_043717,OMIM:611632.0003C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.370C>A (p.Arg124=)29914UBIAD1Benignrs748615089RCV000289699; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133395811333958CA1:g.11333958C>AClinGen:CA591134
NM_013319.2(UBIAD1):c.417C>T (p.Tyr139=)29914UBIAD1Benignrs377764711RCV000351714; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133400511334005CT1:g.11334005C>TClinGen:CA591140
NM_013319.2(UBIAD1):c.452A>G (p.Tyr151Cys)29914UBIAD1Benignrs138443305RCV000389691; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133404011334040AG1:g.11334040A>GClinGen:CA591149
NM_013319.2(UBIAD1):c.494T>G (p.Phe165Cys)29914UBIAD1Uncertain significancers886045058RCV000293265; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133408211334082TG1:g.11334082T>GClinGen:CA10607380
NM_013319.2(UBIAD1):c.511T>C (p.Ser171Pro)29914UBIAD1Pathogenicrs118203951RCV000000910; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133409911334099TC1:g.11334099T>CClinGen:CA114581,UniProtKB:Q9Y5Z9#VAR_043719,OMIM:611632.0007C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.524C>T (p.Thr175Ile)29914UBIAD1Pathogenicrs118203948RCV000000907; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133411211334112CT1:g.11334112C>TClinGen:CA114578,UniProtKB:Q9Y5Z9#VAR_043720,OMIM:611632.0004C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.529G>C (p.Gly177Arg)29914UBIAD1Pathogenicrs118203946RCV000000905; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711133411711334117GC1:g.11334117G>CClinGen:CA114576,OMIM:611632.0002C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_001330350.1(UBIAD1):c.530-9229G>A29914UBIAD1Pathogenicrs397514669RCV000034310; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134570111345701GA1:g.11345701G>AClinGen:CA130837,UniProtKB:Q9Y5Z9#VAR_069267,OMIM:611632.0010C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_001330350.1(UBIAD1):c.530-9203G>A29914UBIAD1Pathogenicrs118203952RCV000000911; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134572711345727GA1:g.11345727G>AClinGen:CA114582,UniProtKB:Q9Y5Z9#VAR_043722,OMIM:611632.0008C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.600G>A (p.Met200Ile)29914UBIAD1Uncertain significancers773070987RCV000370908; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134577111345771GA1:g.11345771G>AClinGen:CA591187C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_001330349.1(UBIAD1):c.618+77A>G29914UBIAD1Pathogenicrs118203949RCV000000908; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134586611345866AG1:g.11345866A>GOMIM:611632.0005,ClinGen:CA114579,UniProtKB:Q9Y5Z9#VAR_043723C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_001330349.1(UBIAD1):c.618+90C>G29914UBIAD1Pathogenicrs118203953RCV000000912; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134587911345879CG1:g.11345879C>GClinGen:CA114583,UniProtKB:Q9Y5Z9#VAR_043724,OMIM:611632.0009C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.711G>T (p.Met237Ile)29914UBIAD1Uncertain significance-1RCV001102234; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134588211345882GT1:g.11345882G>T-
NM_013319.3(UBIAD1):c.739A>G (p.Thr247Ala)29914UBIAD1Uncertain significance-1RCV001102235; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134591011345910AG1:g.11345910A>G-
NM_013319.2(UBIAD1):c.740C>T (p.Thr247Met)29914UBIAD1Uncertain significancers371649705RCV000274086; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134591111345911CT1:g.11345911C>TClinGen:CA591213C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.751C>A (p.Leu251Ile)29914UBIAD1Uncertain significancers780282620RCV000331536; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134592211345922CA1:g.11345922C>AClinGen:CA591215C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.837C>T (p.Cys279=)29914UBIAD1Benignrs201111281RCV000379604; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134600811346008CT1:g.11346008C>TClinGen:CA591235
NM_013319.2(UBIAD1):c.867C>T (p.Thr289=)29914UBIAD1Benignrs113307594RCV000285093; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134603811346038CT1:g.11346038C>TClinGen:CA591245
NM_013319.2(UBIAD1):c.*18C>T29914UBIAD1Benignrs191663672RCV000370217; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134620611346206CT1:g.11346206C>TClinGen:CA591272
NM_013319.3(UBIAD1):c.*48A>G29914UBIAD1Benign-1RCV001098586; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134623611346236AG1:g.11346236A>G-
NM_013319.2(UBIAD1):c.*94G>A29914UBIAD1Uncertain significancers535726476RCV000401521; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134628211346282GA1:g.11346282G>AClinGen:CA10607383
NM_013319.2(UBIAD1):c.*148A>G29914UBIAD1Benignrs11580061RCV000297865; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134633611346336AG1:g.11346336A>GClinGen:CA10607384
NM_013319.3(UBIAD1):c.*170T>G29914UBIAD1Uncertain significance-1RCV001098587; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134635811346358TG1:g.11346358T>G-
NM_001330349.1(UBIAD1):c.618+620_618+622del29914UBIAD1Uncertain significancers886045069RCV000357457; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134640711346409CAGAC1:g.11346407_11346409delClinGen:CA10607326
NM_013319.3(UBIAD1):c.*234C>T29914UBIAD1Uncertain significance-1RCV001100350; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134642211346422CT1:g.11346422C>T-
NM_013319.2(UBIAD1):c.*239G>A29914UBIAD1Uncertain significancers766089759RCV000262219; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134642711346427GA1:g.11346427G>AClinGen:CA10607389
NM_013319.2(UBIAD1):c.*247T>C29914UBIAD1Uncertain significancers886045070RCV000322020; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134643511346435TC1:g.11346435T>CClinGen:CA10607327
NM_013319.3(UBIAD1):c.*295G>A29914UBIAD1Uncertain significance-1RCV001100352; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134648311346483GA1:g.11346483G>A-
NM_013319.2(UBIAD1):c.*420C>T29914UBIAD1Benignrs112789142RCV000358216; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134660811346608CT1:g.11346608C>TClinGen:CA10607390
NM_001330349.1(UBIAD1):c.618+864_618+865del29914UBIAD1Uncertain significancers777958656RCV000268207; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134665311346654CAGC1:g.11346653_11346654delClinGen:CA10607402
NM_013319.3(UBIAD1):c.*467G>A29914UBIAD1Benign-1RCV001100353; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134665511346655GA1:g.11346655G>A-
NM_013319.3(UBIAD1):c.*519G>A29914UBIAD1Uncertain significance-1RCV001100354; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134670711346707GA1:g.11346707G>A-
NM_013319.2(UBIAD1):c.*531C>A29914UBIAD1Uncertain significancers550736303RCV000323298; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134671911346719CA1:g.11346719C>AClinGen:CA10607403
NM_013319.2(UBIAD1):c.*552G>A29914UBIAD1Benignrs111991610RCV000382607; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134674011346740GA1:g.11346740G>AClinGen:CA10607328
NM_013319.2(UBIAD1):c.*612T>C29914UBIAD1Uncertain significancers886045071RCV000288346; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134680011346800TC1:g.11346800T>CClinGen:CA10607405
NM_013319.2(UBIAD1):c.*619A>G29914UBIAD1Uncertain significancers886045072RCV000329309; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134680711346807AG1:g.11346807A>GClinGen:CA10607536
NM_013319.2(UBIAD1):c.*675A>G29914UBIAD1Uncertain significancers376227906RCV000383235; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134686311346863AG1:g.11346863A>GClinGen:CA10607409
NM_013319.2(UBIAD1):c.*684C>A29914UBIAD1Benignrs375520410RCV000293583; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134687211346872CA1:g.11346872C>AClinGen:CA10607329
NM_013319.3(UBIAD1):c.*709C>T29914UBIAD1Uncertain significance-1RCV001102333; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134689711346897CT1:g.11346897C>T-
NM_013319.2(UBIAD1):c.*819G>A29914UBIAD1Benignrs75287995RCV000348372; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134700711347007GA1:g.11347007G>AClinGen:CA10607333
NM_013319.2(UBIAD1):c.*847A>T29914UBIAD1Uncertain significancers886045073RCV000389017; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134703511347035AT1:g.11347035A>TClinGen:CA10607455
NM_013319.2(UBIAD1):c.*904T>C29914UBIAD1Benignrs3765906RCV000294531; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134709211347092TC1:g.11347092T>CClinGen:CA10607335
NM_013319.2(UBIAD1):c.*969_*970insTTTG29914UBIAD1Benignrs3063961RCV000335467; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134715511347156CCTGTT1:g.11347155_11347156insTGTTClinGen:CA10607456
NM_013319.3(UBIAD1):c.*990T>C29914UBIAD1Uncertain significance-1RCV001096934; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134717811347178TC1:g.11347178T>C-
NM_013319.2(UBIAD1):c.*997C>T29914UBIAD1Uncertain significancers886045074RCV000393271; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134718511347185CT1:g.11347185C>TClinGen:CA10607540
NM_013319.2(UBIAD1):c.*1010C>T29914UBIAD1Uncertain significancers886045075RCV000337070; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134719811347198CT1:g.11347198C>TClinGen:CA10607544
NM_013319.2(UBIAD1):c.*1060G>A29914UBIAD1Benignrs115210853RCV000398620; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134724811347248GA1:g.11347248G>AClinGen:CA10607546
NM_013319.2(UBIAD1):c.*1167C>T29914UBIAD1Uncertain significancers886045076RCV000301858; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134735511347355CT1:g.11347355C>TClinGen:CA10607336
NM_013319.3(UBIAD1):c.*1189A>G29914UBIAD1Uncertain significance-1RCV001096935; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134737711347377AG1:g.11347377A>G-
NM_013319.3(UBIAD1):c.*1228A>G29914UBIAD1Uncertain significance-1RCV001098681; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134741611347416AG1:g.11347416A>G-
NM_013319.2(UBIAD1):c.*1265T>A29914UBIAD1Uncertain significancers372234308RCV000361232; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134745311347453TA1:g.11347453T>AClinGen:CA10607547
NM_013319.2(UBIAD1):c.*1304C>T29914UBIAD1Benignrs17036631RCV000266840; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134749211347492CT1:g.11347492C>TClinGen:CA10607553
NM_013319.2(UBIAD1):c.*1426C>T29914UBIAD1Uncertain significancers886045077RCV000307956; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134761411347614CT1:g.11347614C>TClinGen:CA10607339
NM_013319.2(UBIAD1):c.*1427T>C29914UBIAD1Uncertain significancers886045078RCV000362554; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134761511347615TC1:g.11347615T>CClinGen:CA10607554
NM_013319.2(UBIAD1):c.*1459T>A29914UBIAD1Uncertain significancers886045079RCV000272715; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134764711347647TA1:g.11347647T>AClinGen:CA10607342
NM_013319.2(UBIAD1):c.*1494A>G29914UBIAD1Uncertain significancers868102858RCV000331382; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134768211347682AG1:g.11347682A>GClinGen:CA10607555
NM_013319.2(UBIAD1):c.*1495T>C29914UBIAD1Uncertain significancers886045080RCV000385857; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134768311347683TC1:g.11347683T>CClinGen:CA10607343
NM_013319.3(UBIAD1):c.*1506T>C29914UBIAD1Uncertain significance-1RCV001100483; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134769411347694TC1:g.11347694T>C-
NM_013319.2(UBIAD1):c.*1532C>T29914UBIAD1Benignrs77270119RCV000277543; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134772011347720CT1:g.11347720C>TClinGen:CA10607410
NM_013319.2(UBIAD1):c.*1535A>T29914UBIAD1Uncertain significancers536904644RCV000332629; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134772311347723AT1:g.11347723A>TClinGen:CA10607462
NM_013319.2(UBIAD1):c.*1564C>T29914UBIAD1Benignrs111893018RCV000373288; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134775211347752CT1:g.11347752C>TClinGen:CA10607345
NM_013319.3(UBIAD1):c.*1565G>A29914UBIAD1Uncertain significance-1RCV001100484; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134775311347753GA1:g.11347753G>A-
NM_013319.3(UBIAD1):c.*1570G>A29914UBIAD1Uncertain significance-1RCV001100485; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134775811347758GA1:g.11347758G>A-
NM_013319.3(UBIAD1):c.*1580C>T29914UBIAD1Uncertain significance-1RCV001100486; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134776811347768CT1:g.11347768C>T-
NM_013319.2(UBIAD1):c.*1586C>T29914UBIAD1Uncertain significancers886045081RCV000278396; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134777411347774CT1:g.11347774C>TClinGen:CA10607414C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.*1671G>A29914UBIAD1Benignrs544393884RCV000338091; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134785911347859GA1:g.11347859G>AClinGen:CA10607466C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.*1719A>G29914UBIAD1Uncertain significancers886045082RCV000374053; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134790711347907AG1:g.11347907A>GClinGen:CA10607556C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.2(UBIAD1):c.*1779C>T29914UBIAD1Uncertain significancers886045083RCV000284133; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134796711347967CT1:g.11347967C>TClinGen:CA10607597C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_001330349.1(UBIAD1):c.618+2209del29914UBIAD1Uncertain significancers781564164RCV000339229; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134798611347986CAC1:g.11347986_11347986delClinGen:CA10607347C0271287 121800 Schnyder crystalline corneal dystrophy;
NM_013319.3(UBIAD1):c.*1811G>C29914UBIAD1Uncertain significance-1RCV001102441; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134799911347999GC1:g.11347999G>C-
NM_001330349.1(UBIAD1):c.618+2216_618+2219del29914UBIAD1Benignrs371474267RCV000395834; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134800211348005AAAAGA1:g.11348002_11348005delClinGen:CA10607348
NM_013319.3(UBIAD1):c.*1876G>A29914UBIAD1Uncertain significance-1RCV001102442; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134806411348064GA1:g.11348064G>A-
NM_013319.3(UBIAD1):c.*2091G>A29914UBIAD1Uncertain significance-1RCV001102443; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134827911348279GA1:g.11348279G>A-
NM_013319.2(UBIAD1):c.*2115C>G29914UBIAD1Uncertain significancers886045085RCV000304147; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134830311348303CG1:g.11348303C>GClinGen:CA10607415
NM_013319.2(UBIAD1):c.*2187G>A29914UBIAD1Uncertain significancers886045086RCV000344818; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134837511348375GA1:g.11348375G>AClinGen:CA10607350
NM_013319.3(UBIAD1):c.*2201C>A29914UBIAD1Uncertain significance-1RCV001097034; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134838911348389CA1:g.11348389C>A-
NM_013319.3(UBIAD1):c.*2213C>T29914UBIAD1Uncertain significance-1RCV001097035; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134840111348401CT1:g.11348401C>T-
NM_001330349.1(UBIAD1):c.618+2704C>T29914UBIAD1Likely benignrs573522173RCV000376638; NHuman Phenotype Ontology:HP:0007760,MONDO:MONDO:0007374,MedGen:C0271287,OMIM:121800, Orphanet:9896711134849311348493CT1:g.11348493C>TClinGen:CA10654422C0271287 121800 Schnyder crystalline corneal dystrophy;
MSeqDR Portal