MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Glaucoma (D005901)
..Starting node
..expand
Glaucoma, Open-Angle (D005902)

       Child Nodes:
........expandGlaucoma 1, Open Angle, A (C564234)
........expandGLAUCOMA 1, OPEN ANGLE, B (OMIM:606689)
........expandGlaucoma 1, Open Angle, C (C566641)
........expandGlaucoma 1, Open Angle, D (C566551)
........expandGlaucoma 1, Open Angle, E (C564233)
........expandGlaucoma 1, Open Angle, F (C566383)
........expandGlaucoma 1, Open Angle, G (C563692)
........expandGlaucoma 1, Open Angle, H (C566976)
........expandGlaucoma 1, Open Angle, I (C565724)
........expandGlaucoma 1, Open Angle, J (C563874)
........expandGlaucoma 1, Open Angle, K (C563873)
........expandGlaucoma 1, Open Angle, M (C566436)
........expandGlaucoma 1, Open Angle, N (C566977)
........expandGLAUCOMA 1, PRIMARY OPEN ANGLE, C (OMIM:601682)
........expandGlaucoma with Elevated Episcleral Venous Pressure (C564235)
........expandGlaucoma-Related Pigment Dispersion Syndrome (C563184)
........expandHydrophthalmos (D006871)



 Sister Nodes: 
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)
..expandAckerman syndrome (C538170)
..expandBowen syndrome (C538164)
..expandCharcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma (C535422)
..expandCharcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma (C565761)
..expandDyssegmental Dysplasia with Glaucoma (C563290)
..expandEarly-Onset Glaucoma (C580055)
..expandFriedreich ataxia congenital glaucoma (C538061)
..expandGEMSS syndrome (C537679)
..expandGhose Sachdev Kumar syndrome (C537803)
..expandGlaucoma 1, Open Angle, O (C567753)
..expandGlaucoma 3, Primary Congenital, A (C565547)
..expandGLAUCOMA 3, PRIMARY CONGENITAL, C (OMIM:613085)
..expandGlaucoma 3, Primary Congenital, D (C567765)
..expandGLAUCOMA 3, PRIMARY CONGENITAL, E (OMIM:617272)
..expandGlaucoma 3, primary infantile, B (C536824)
..expandGlaucoma and Sleep Apnea (C564232)
..expandGlaucoma Iridogoniodysplasia, Familial (C566650)
..expandGlaucoma, Angle-Closure (D015812) Child1
..expandGlaucoma, Neovascular (D015355)
..expandGLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (OMIM:606657)
..expandGlaucoma, Open-Angle (D005902) Child18
..expandIridogoniodysgenesis type1 (C535535)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandIris hypoplasia and glaucoma (C535538)
..expandLow Tension Glaucoma (D057066)
..expandLowry Maclean syndrome (C537037)
..expandMacKay Shek Carr syndrome (C538364)
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)
..expandMicrospherophakia (C563255)
..expandPeters anomaly with cataract (C537885)
..expandRenal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation (C567038)
..expandSpastic Paresis, Glaucoma, and Mental Retardation (C564809)
..expandTetralogy of fallot and glaucoma (C536501)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5100
Name:Glaucoma, Open-Angle
Definition:Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.
Alternative IDs:DO:DOID:1067|DO:DOID:1070|OMIM:137760
ParentIDs:MESH:D005901
TreeNumbers:C11.525.381.407
Synonyms:Chronic Primary Open Angle Glaucoma |Compensated Glaucoma |Compensative Glaucoma |GLAUCOMA 1, OPEN ANGLE, E, INCLUDED |Glaucoma, Compensated |Glaucoma, Compensative |Glaucoma, Open Angle |Glaucoma, Pigmentary |Glaucoma, Primary Open Angle |GLAUCOMA, PRIMARY OPEN
Slim Mappings:Eye disease
Reference: MedGen: D005902
MeSH: D005902
OMIM: 137760;
MSeqDR LSDB:  
Genes: OPTN;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000545Myopia
3 HP:0012108Open angle glaucoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp)29775CARD10risk factorrs201794655RCV000416608; NMedGen:C0339573,OMIM:137760223788880137888801GA22:g.37888801G>AClinGen:CA10219455C0339573 137760 Primary open angle glaucoma;
NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp)29775CARD10risk factorrs750643216RCV000416606; NMedGen:C0339573,OMIM:137760223790237237902372GA22:g.37902372G>AClinGen:CA10219908C0339573 137760 Primary open angle glaucoma;
NM_014550.4(CARD10):c.1024G>A (p.Val342Met)29775CARD10risk factorrs200148764RCV000416610; NMedGen:C0339573,OMIM:137760223790457537904575CT22:g.37904575C>TClinGen:CA10220000C0339573 137760 Primary open angle glaucoma;
NM_014550.4(CARD10):c.983C>T (p.Ala328Val)29775CARD10risk factorrs139006752RCV000416609; NMedGen:C0339573,OMIM:137760223790461637904616GA22:g.37904616G>AClinGen:CA10220005C0339573 137760 Primary open angle glaucoma;
NM_014550.4(CARD10):c.635G>A (p.Arg212His)29775CARD10risk factorrs1057519378RCV000416607; NMedGen:C0339573,OMIM:137760223791204437912044CT22:g.37912044C>TClinGen:CA16044149
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)1545CYP1B1Conflicting interpretations of pathogenicityrs9282671RCV000008185|RCV000059337|RCV000078126|RCV000766838|RCV001087298|RCV001139671|RCV001139670; NMedGen:C0339573,OMIM:137760|Human Phenotype Ontology:HP:0000589,Human Phenotype Ontology:HP:0007767,Human Phenotype Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363, Orphanet:194, Orphanet:98945|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0020366,M23830229138302291AT2:g.38302291A>TClinGen:CA145182,UniProtKB:Q16678#VAR_028736,OMIM:601771.0017C0009363 120200 Congenital ocular coloboma;
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met)4053LTBP2Likely pathogenicrs137854860RCV000114815; NMedGen:C0339573,OMIM:137760147496961474969614CT14:g.74969614C>TClinGen:CA151349C0339573 137760 Primary open angle glaucoma;
NM_000428.3(LTBP2):c.4668G>C (p.Pro1556=)4053LTBP2Uncertain significancers137854866RCV000114814; NMedGen:C0339573,OMIM:137760147497022474970224CG14:g.74970224C>GClinGen:CA151347C0339573 137760 Primary open angle glaucoma;
NM_000428.3(LTBP2):c.4356G>A (p.Pro1452=)4053LTBP2Benignrs137854865RCV000114813|RCV000933830; NMedGen:C0339573,OMIM:137760|MedGen:CN517202147497169974971699CT14:g.74971699C>TClinGen:CA151345C0339573 137760 Primary open angle glaucoma;
NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg)4053LTBP2Likely pathogenicrs137854863RCV000114812; NMedGen:C0339573,OMIM:137760147497180574971805TC14:g.74971805T>CClinGen:CA151343C0339573 137760 Primary open angle glaucoma;
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys)4053LTBP2Uncertain significancers137854862RCV000114811|RCV000346813|RCV000385005; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976147497538874975388CT14:g.74975388C>TClinGen:CA151341C1533041 Primary congenital glaucoma;
NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln)4053LTBP2Likely pathogenicrs137854858RCV000114806; NMedGen:C0339573,OMIM:137760147501796975017969CT14:g.75017969C>TClinGen:CA151337C0339573 137760 Primary open angle glaucoma;
NM_000261.2(MYOC):c.1111T>C (p.Tyr371His)4653MYOCPathogenicrs878854408RCV000233750; NMedGen:C0339573,OMIM:1377601171605469171605469AG1:g.171605469A>GClinGen:CA10583955C0339573 137760 Primary open angle glaucoma;
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)4653MYOCPathogenic/Likely pathogenicrs74315329RCV000008412|RCV000369379|RCV000735309|RCV001200372; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:C0339573,OMIM:137760|6 conditions|MedGen:CN5172021171605478171605478GA1:g.171605478G>AClinGen:CA119172,OMIM:601652.0003C0339573 137760 Primary open angle glaucoma;
NC_000010.10:g.(?_12833157)_(13178866_?)del10133OPTNPathogenic-1RCV000708259; NMONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101283315713178866nana-C3150692 613435 Amyotrophic lateral sclerosis type 12;
NM_001008211.1(OPTN):c.-454C>T10133OPTNLikely benignrs570587258RCV000310195|RCV000397809; NMedGen:C0339573,OMIM:137760|MedGen:CN239196101314208113142081CT10:g.13142081C>TClinGen:CA10654452CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008211.1(OPTN):c.-453G>T10133OPTNUncertain significancers886046816RCV000259596|RCV000354492; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101314208213142082GT10:g.13142082G>TClinGen:CA10634921
NM_001008211.1(OPTN):c.-448G>T10133OPTNBenignrs3814657RCV000333492|RCV000387907; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101314208713142087GT10:g.13142087G>TClinGen:CA10631193
NM_001008211.1(OPTN):c.-408G>T10133OPTNUncertain significancers553169923RCV001103511|RCV001103510; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101314212713142127GT10:g.13142127G>T-
NM_001008211.1(OPTN):c.-382T>C10133OPTNBenignrs71492279RCV000293715|RCV000329804; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101314215313142153TC10:g.13142153T>CClinGen:CA10631195
NM_001008212.2(OPTN):c.-274C>A10133OPTNBenignrs552494483RCV000290020|RCV000384309; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101314219213142192CA10:g.13142192C>AClinGen:CA10631197
NM_001008212.2(OPTN):c.-272G>T10133OPTNUncertain significancers886046817RCV000345043|RCV000398524; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101314219413142194GT10:g.13142194G>TClinGen:CA10628198
NM_001008212.2(OPTN):c.-255C>G10133OPTNBenignrs2580915RCV000286489|RCV000341442; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101314221113142211CG10:g.13142211C>GClinGen:CA10628199
NM_001008212.2(OPTN):c.-250C>A10133OPTNUncertain significancers886046818RCV000301345|RCV000399924; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101314221613142216CA10:g.13142216C>AClinGen:CA10635219
NM_001008212.2(OPTN):c.-215G>A10133OPTNBenignrs11548142RCV000337610|RCV000393093; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101314225113142251GA10:g.13142251G>AClinGen:CA10631198
NM_001008212.2(OPTN):c.-184C>G10133OPTNUncertain significancers955585590RCV001106575|RCV001106576; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101314228213142282CG10:g.13142282C>G-
NM_001008212.2(OPTN):c.-172G>A10133OPTNUncertain significancers1453573477RCV001106577|RCV001106578; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101314229413142294GA10:g.13142294G>A-
NM_001008212.2(OPTN):c.-164+13A>G10133OPTNBenign/Likely benignrs556917167RCV000297812|RCV000371285; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101314231513142315AG10:g.13142315A>GClinGen:CA10628200
NC_000010.11:g.(?_13109103)_(13136886_?)del10133OPTNPathogenic-1RCV000635243; NMONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760101315110313178886nana-C3150692 613435 Amyotrophic lateral sclerosis type 12;
NC_000010.11:g.(?_13109113)_(13112645_?)del10133OPTNPathogenic-1RCV001033408; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315111313154645nana-1-
NM_001008212.2(OPTN):c.-9A>G10133OPTNUncertain significancers779282676RCV001108751|RCV001108750; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101315111413151114AG10:g.13151114A>G-
NC_000010.11:g.(?_13109123)_(13183100_?)del10133OPTNPathogenic-1RCV000707934; NMONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315112313225100nana-
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg)10133OPTNUncertain significancers1564354765RCV000684859; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315113613151136CG10:g.13151136C>G-
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)10133OPTNUncertain significancers1832936570RCV001108753|RCV001108752; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315113913151139TG10:g.13151139T>G-
NM_001008212.2(OPTN):c.102G>A (p.Thr34=)10133OPTNBenignrs2234968RCV000082082|RCV000276775|RCV000313201|RCV001682787|RCV001511961; NMedGen:CN169374|MedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315122413151224GA10:g.13151224G>AClinGen:CA149163CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008212.2(OPTN):c.123G>A (p.Leu41=)10133OPTNBenignrs11591687RCV000082083|RCV000273318|RCV000367892|RCV000712474|RCV001084066; NMedGen:CN169374|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760|MedGen:CN517202|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315124513151245GA10:g.13151245G>AClinGen:CA149166CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008212.2(OPTN):c.147C>T (p.Thr49=)10133OPTNBenign/Likely benignrs187734249RCV000873728|RCV001103590|RCV001103591|RCV001310560; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760|MedGen:CN517202101315126913151269CT10:g.13151269C>T-
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)10133OPTNPathogenicrs1564354968RCV000698642; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315127913151280CCAGCT10:g.13151279_13151280insAGCT-C3150692 613435 Amyotrophic lateral sclerosis type 12;
NM_001008212.2(OPTN):c.166+66A>G10133OPTNBenign-1RCV001511962|RCV001619912; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026|MedGen:CN517202101315135413151354AG13151354-
NM_001008212.2(OPTN):c.219G>A (p.Ser73=)10133OPTNLikely benign-1RCV001407381; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026101315232613152326GA13152326-
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)10133OPTNUncertain significancers756622651RCV000328367|RCV000382888; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101315235413152354CT10:g.13152354C>TClinGen:CA5410547
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)10133OPTNUncertain significancers202044898RCV000626292|RCV001362335; NHuman Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803|MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760101315238213152382AT10:g.13152382A>TClinGen:CA5410553
NM_001008212.2(OPTN):c.287G>A (p.Arg96His)10133OPTNUncertain significancers184561087RCV001244376; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315239413152394GA10:g.13152394G>A-
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)10133OPTNBenign/Likely benignrs11258194RCV000007516|RCV000007517|RCV000177328|RCV000324769|RCV000269750|RCV001282156|RCV001512340|RCV001705584; NMONDO:MONDO:0011693,MedGen:C1847730,OMIM:606657|MONDO:MONDO:0007665,MedGen:C1842026|MedGen:CN169374|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760|MedGen:CN235283|MONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339101315240013152400TA10:g.13152400T>AClinGen:CA118632,OMIM:602432.0004CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)10133OPTNUncertain significancers1832971194RCV001105532|RCV001105533; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101315246613152466GA10:g.13152466G>A-
NM_001008212.2(OPTN):c.369+40del10133OPTNBenign-1RCV001688577|RCV001788786; NMedGen:CN517202|MedGen:C0339573,OMIM:137760101315250513152505GTG13152504-
NM_001008212.2(OPTN):c.369+39T>G10133OPTNBenign-1RCV001511963; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026101315251513152515TG13152515-
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)10133OPTNPathogenicrs774258585RCV000802217|RCV001531048; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026|MedGen:CN517202101315446413154465TTAG10:g.13154464_13154465insAG-
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)10133OPTNUncertain significancers1269604352RCV001105534|RCV001105535; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315448113154481GA10:g.13154481G>A-
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)10133OPTNBenign/Likely benignrs113955718RCV000284937|RCV000379342|RCV000712475|RCV001085080; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315448513154485CA10:g.13154485C>AClinGen:CA5410613
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)10133OPTNConflicting interpretations of pathogenicityrs140599944RCV000778274|RCV000994352|RCV001105536; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202|MedGen:C0339573,OMIM:137760101315448613154486GT10:g.13154486G>T-
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)10133OPTNUncertain significancers140599944RCV000806792; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315448613154486GA10:g.13154486G>A-
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)10133OPTNUncertain significancers757411888RCV000339892|RCV000375070|RCV001092473; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202101315450813154508AC10:g.13154508A>CClinGen:CA5410621
NM_001008212.2(OPTN):c.441G>A (p.Val147=)10133OPTNUncertain significancers886046819RCV000280586|RCV000335662; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315452413154524GA10:g.13154524G>AClinGen:CA10635231
NM_001008212.2(OPTN):c.444G>A (p.Val148=)10133OPTNConflicting interpretations of pathogenicityrs780011442RCV000314652|RCV000402060; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315452713154527GA10:g.13154527G>AClinGen:CA5410625
NM_001008212.2(OPTN):c.447G>A (p.Arg149=)10133OPTNBenign/Likely benignrs555741399RCV000350798|RCV000398273|RCV001512807; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315453013154530GA10:g.13154530G>AClinGen:CA5410626
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)10133OPTNConflicting interpretations of pathogenicityrs113811959RCV000249241|RCV000311095|RCV000365950|RCV000635241|RCV001079510; NMedGen:CN169374|MedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202|MONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315457213154572AG10:g.13154572A>GClinGen:CA5410636C3150692 613435 Amyotrophic lateral sclerosis type 12;
NM_001008212.2(OPTN):c.553-10G>A10133OPTNBenignrs11258210RCV000254004|RCV000271318|RCV000873558|RCV001108843|RCV001610590; NMedGen:CN169374|MedGen:C0339573,OMIM:137760|MONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202101315825713158257GA10:g.13158257G>AClinGen:CA5410667
NC_000010.11:g.(?_13116257)_(13116350_?)del10133OPTNPathogenic-1RCV001031906; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315825713158350nana-1-
NM_001008212.2(OPTN):c.553-5C>T10133OPTNBenignrs2244380RCV000178981|RCV000307826|RCV000362480|RCV001511964|RCV001651046; NMedGen:CN169374|MedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202101315826213158262CT10:g.13158262C>TClinGen:CA203121CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008212.2(OPTN):c.573A>G (p.Ser191=)10133OPTNConflicting interpretations of pathogenicityrs773095721RCV000267937|RCV000323047; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101315828713158287AG10:g.13158287A>GClinGen:CA5410675
NM_001008212.2(OPTN):c.597T>C (p.Pro199=)10133OPTNLikely benignrs373699827RCV000892935|RCV001418853; NMedGen:CN517202|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315831113158311TC10:g.13158311T>C-
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)10133OPTNUncertain significancers199700857RCV001068146; NMONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315831913158319CT10:g.13158319C>T-
NM_001008212.2(OPTN):c.612A>G (p.Thr204=)10133OPTNLikely benignrs1588441388RCV000878873|RCV001397497; NMedGen:CN517202|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101315832613158326AG10:g.13158326A>G-
NM_001008212.2(OPTN):c.626+4T>C10133OPTNUncertain significancers1564360523RCV001052125; NMONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760101315834413158344TC10:g.13158344T>C-
NM_001008212.2(OPTN):c.626+5del10133OPTNUncertain significancers776938424RCV001342193; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101315834513158345TGT13158344-
NM_001008212.2(OPTN):c.626+24G>A10133OPTNBenignrs11258211RCV000250558|RCV000537352|RCV001675695; NMedGen:CN169374|MONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202101315836413158364GA10:g.13158364G>AClinGen:CA5410692C3150692 613435 Amyotrophic lateral sclerosis type 12;
NM_001008212.2(OPTN):c.627-10T>C10133OPTNBenign/Likely benignrs80327830RCV000264536|RCV000377705|RCV000873837|RCV001546072|RCV001289043; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202|MedGen:CN169374101316087813160878TC10:g.13160878T>CClinGen:CA5410702
NC_000010.11:g.(?_13118878)_(13119050_?)del10133OPTNUncertain significance-1RCV001033364; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101316087813161050nana-1-
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr)10133OPTNUncertain significancers775448931RCV001202904|RCV001289044; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026|MedGen:CN517202101316094313160943CT10:g.13160943C>T-
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu)10133OPTNUncertain significancers760339006RCV001236905; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101316101513161015GC10:g.13161015G>C-
NM_001008212.2(OPTN):c.779+10A>G10133OPTNLikely benignrs200899194RCV000874546|RCV001486619; NMedGen:CN517202|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101316105013161050AG10:g.13161050A>G-
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu)10133OPTNUncertain significancers780122817RCV001347929; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101316440413164404AG13164404-
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys)10133OPTNUncertain significancers540943401RCV001346579; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101316441613164416CT13164416-
NM_001008212.2(OPTN):c.812G>A (p.Arg271His)10133OPTNConflicting interpretations of pathogenicityrs201896586RCV001103687|RCV001103688|RCV001759871; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202101316441713164417GA10:g.13164417G>A-
NM_001008212.2(OPTN):c.822T>A (p.Ile274=)10133OPTNLikely benign-1RCV001443724; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101316442713164427TA13164427-
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)10133OPTNConflicting interpretations of pathogenicityrs143727251RCV001103689|RCV001103690; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101316447213164472GC10:g.13164472G>C-
NM_001008212.2(OPTN):c.883-6T>C10133OPTNLikely benignrs1588446686RCV000928386|RCV001416692; NMedGen:CN517202|MONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101316598913165989TC10:g.13165989T>C-
NM_001008212.2(OPTN):c.891C>T (p.Ser297=)10133OPTNLikely benignrs200169099RCV000907064; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101316600313166003CT10:g.13166003C>T-
NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys)10133OPTNLikely benignrs200114679RCV000876032; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101316602113166021CA10:g.13166021C>A-
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe)10133OPTNUncertain significance-1RCV001372315; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026101316602213166022CT13166022-
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)10133OPTNConflicting interpretations of pathogenicityrs142812715RCV000492386|RCV000557693; NMONDO:MONDO:0020128,MedGen:C0085084, Orphanet:98503|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026101316605313166053AT10:g.13166053A>TClinGen:CA5410811
NM_001008212.2(OPTN):c.950A>G (p.His317Arg)10133OPTNUncertain significancers747365111RCV001316594; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026101316606213166062AG13166062-
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys)10133OPTNUncertain significancers886046820RCV000318462|RCV000373099; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101316607313166073AT10:g.13166073A>TClinGen:CA10631206
NM_001008212.2(OPTN):c.963C>T (p.Ser321=)10133OPTNConflicting interpretations of pathogenicityrs150381274RCV000278488|RCV000352205|RCV000635242|RCV000970213; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202101316607513166075CT10:g.13166075C>TClinGen:CA5410815
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys)10133OPTNBenignrs523747RCV000873017|RCV001085799; NMedGen:CN517202|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101316607613166076AA10:g.13166076A>.-
NM_001008212.2(OPTN):c.964= (p.Glu322=)10133OPTNBenign-1RCV000988329|RCV001529143|RCV001515371; NMedGen:C0339573,OMIM:137760|MedGen:CN169374|MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760101316607613166076AG10:g.13166076A>G-
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=)10133OPTNLikely benign-1RCV001491451; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101316752613167526AG13167526-
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala)10133OPTNUncertain significancers751226367RCV001319476; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026101316797113167971AG13167971-
NM_001008212.2(OPTN):c.1242+327C>T10133OPTNUncertain significancers368712790RCV001197688; NMedGen:C0339573,OMIM:137760101316836613168366CT10:g.13168366C>T-
NM_001008212.2(OPTN):c.1243-13G>A10133OPTNUncertain significancers374144660RCV000293638|RCV000388005; NMedGen:CN239196|MedGen:C0339573,OMIM:137760101316973213169732GA10:g.13169732G>AClinGen:CA5410922
NM_001008212.2(OPTN):c.1243-9C>A10133OPTNUncertain significancers1833497674RCV001105640|RCV001106772; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101316973613169736CA10:g.13169736C>A-
NM_001008212.2(OPTN):c.1401+1G>A10133OPTNLikely pathogenic-1RCV001377787; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026101316990413169904GA13169904-
NM_001008212.2(OPTN):c.1401+21C>G10133OPTNLikely benignrs553828705RCV000544360; NMONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760101316992413169924CG10:g.13169924C>GClinGen:CA5410951C3150692 613435 Amyotrophic lateral sclerosis type 12;
NM_001008212.2(OPTN):c.1402-3C>G10133OPTNUncertain significancers1588452749RCV000805360; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101317406413174064CG10:g.13174064C>G-
NM_001008212.2(OPTN):c.1414T>C (p.Cys472Arg)10133OPTNUncertain significancers1833604353RCV001199282; NMedGen:C0339573,OMIM:137760101317407913174079TC10:g.13174079T>C-
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)10133OPTNUncertain significancers886046821RCV000348664|RCV000400662; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101317409213174092AG10:g.13174092A>GClinGen:CA10628204
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)10133OPTNUncertain significancers377219791RCV000516745|RCV001106773|RCV001106774|RCV001359911; NMedGen:CN169374|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101317410713174107CT10:g.13174107C>TClinGen:CA5410970CN169374 not specified;
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln)10133OPTNUncertain significance-1RCV001367574; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317411213174112GC13174112-
NM_001008212.2(OPTN):c.1532+10AG[3]10133OPTNLikely benignrs374302388RCV000289937|RCV000344953; NMedGen:C0339573,OMIM:137760|MedGen:CN239196101317420713174208AAGA10:g.13174207_13174208delClinGen:CA5410987
NM_001008212.2(OPTN):c.1533-10G>A10133OPTNLikely benign-1RCV001427411; NMONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317549213175492GA13175492-
NM_001008212.2(OPTN):c.1533-3C>T10133OPTNUncertain significancers373981784RCV001057571|RCV001760007; NMONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760|MedGen:CN517202101317549913175499CT10:g.13175499C>T-
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)10133OPTNConflicting interpretations of pathogenicityrs771316696RCV000305057|RCV000401566; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101317553813175538GA10:g.13175538G>AClinGen:CA5411021CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008212.2(OPTN):c.1612+9C>T10133OPTNLikely benign-1RCV001436803; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101317559013175590CT13175590-
NM_001008212.2(OPTN):c.1612+10G>A10133OPTNBenignrs191671333RCV000360068|RCV000391663|RCV000874069; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317559113175591GA10:g.13175591G>AClinGen:CA5411028CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu)10133OPTNUncertain significancers967459877RCV001210533; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101317874513178745GA10:g.13178745G>A-
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)10133OPTNConflicting interpretations of pathogenicityrs774245711RCV001107407|RCV001107408; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317876513178765CT10:g.13178765C>T-
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)10133OPTNConflicting interpretations of pathogenicityrs75654767RCV000007515|RCV000301689|RCV000356568|RCV000559186|RCV001289042|RCV001610287; NMONDO:MONDO:0007665,MedGen:C1842026|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760|MONDO:MONDO:0007665,MedGen:C1842026; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|Med101317876613178766GA10:g.13178766G>AClinGen:CA118630,OMIM:602432.0003C3150692 613435 Amyotrophic lateral sclerosis type 12;
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter)10133OPTNUncertain significancers1275810602RCV001321463; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MedGen:C0339573,OMIM:137760; MONDO:MONDO:0007665,MedGen:C1842026101317883713178837CT13178837-
NM_001008212.2(OPTN):c.1713C>T (p.His571=)10133OPTNLikely benign-1RCV001502726; NMedGen:C0339573,OMIM:137760; MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803; MONDO:MONDO:0007665,MedGen:C1842026101317884513178845CT13178845-
NM_001008212.2(OPTN):c.*152G>T10133OPTNUncertain significancers886046823RCV000262522|RCV000317653; NMedGen:CN239196|MedGen:C0339573,OMIM:137760101317901813179018GT10:g.13179018G>TClinGen:CA10631220CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008212.2(OPTN):c.*218G>C10133OPTNUncertain significancers886046824RCV000277896|RCV000353871; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101317908413179084GC10:g.13179084G>CClinGen:CA10634923CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008212.2(OPTN):c.*222G>C10133OPTNUncertain significancers1451563043RCV001103787|RCV001107409; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317908813179088GC10:g.13179088G>C-
NM_001008212.2(OPTN):c.*269C>T10133OPTNBenign/Likely benignrs111484304RCV000332931|RCV000387517|RCV001565044; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:CN517202101317913513179135CT10:g.13179135C>TClinGen:CA10628206CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_001008212.2(OPTN):c.*306G>A10133OPTNUncertain significancers538280633RCV000292770|RCV000329019; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317917213179172GA10:g.13179172G>AClinGen:CA10631221
NM_001008212.2(OPTN):c.*335C>T10133OPTNUncertain significancers1251482519RCV001103789|RCV001103788; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101317920113179201CT10:g.13179201C>T-
NM_001008212.2(OPTN):c.*386C>A10133OPTNUncertain significancers745564491RCV000289763|RCV000384123; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317925213179252CA10:g.13179252C>AClinGen:CA10634924
NM_001008212.2(OPTN):c.*413G>A10133OPTNUncertain significancers886046825RCV000344625|RCV000395948; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317927913179279GA10:g.13179279G>AClinGen:CA10634925
NM_001008212.2(OPTN):c.*461G>A10133OPTNUncertain significancers541250740RCV000286029|RCV000340941; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101317932713179327GA10:g.13179327G>AClinGen:CA10631229
NM_001008212.2(OPTN):c.*562T>G10133OPTNBenign/Likely benignrs148646641RCV000301393|RCV000400524; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101317942813179428TG10:g.13179428T>GClinGen:CA10634926
NM_001008212.2(OPTN):c.*631A>G10133OPTNUncertain significancers1833724733RCV001106844|RCV001105723; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317949713179497AG10:g.13179497A>G-
NM_001008212.2(OPTN):c.*938C>G10133OPTNUncertain significancers886046826RCV000354201|RCV000407309; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101317980413179804CG10:g.13179804C>GClinGen:CA10635248
NM_001008212.2(OPTN):c.*1042T>G10133OPTNUncertain significancers886046827RCV000314481|RCV000369098; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317990813179908TG10:g.13179908T>GClinGen:CA10628208
NM_001008212.2(OPTN):c.*1063C>A10133OPTNUncertain significancers530046832RCV000274729|RCV000329874; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101317992913179929CA10:g.13179929C>AClinGen:CA10634927
NM_001008212.2(OPTN):c.*1089G>A10133OPTNUncertain significancers758812707RCV000271256|RCV000365747; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101317995513179955GA10:g.13179955G>AClinGen:CA10635255
NM_001008212.2(OPTN):c.*1111A>C10133OPTNUncertain significancers962236225RCV001107513|RCV001107512; NMONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803|MedGen:C0339573,OMIM:137760101317997713179977AC10:g.13179977A>C-
NM_001008212.2(OPTN):c.*1251C>G10133OPTNConflicting interpretations of pathogenicityrs542617940RCV000326379|RCV000380977; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101318011713180117CG10:g.13180117C>GClinGen:CA10634931
NM_001008212.2(OPTN):c.*1285T>C10133OPTNUncertain significancers560947786RCV000286633|RCV000322973; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101318015113180151TC10:g.13180151T>CClinGen:CA10628210
NM_001008212.2(OPTN):c.*1385T>C10133OPTNUncertain significancers546352206RCV000284580|RCV000377661; NMedGen:C0339573,OMIM:137760|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435, Orphanet:803101318025113180251TC10:g.13180251T>CClinGen:CA10635259
NM_001008212.2(OPTN):c.*1421T>G10133OPTNBenignrs12415716RCV000269349|RCV000363969|RCV001683461; NMedGen:C0339573,OMIM:137760|MedGen:CN239196|MedGen:CN517202101318028713180287TG10:g.13180287T>GClinGen:CA10654453CN239196 Amyotrophic Lateral Sclerosis, Recessive;
NM_139281.3(WDR36):c.-70C>G134430WDR36Conflicting interpretations of pathogenicityrs35629723RCV000245126|RCV000264299; NMedGen:CN169374|MedGen:C0339573,OMIM:1377605110428085110428085CG5:g.110428085C>GClinGen:CA3365094
NM_139281.3(WDR36):c.163-7dup134430WDR36Benign/Likely benignrs201659734RCV000286790|RCV001718746; NMedGen:C0339573,OMIM:137760|MedGen:CN5172025110430605110430606CCT5:g.110430605_110430606insTClinGen:CA3365178
NM_139281.3(WDR36):c.1642A>G (p.Ile548Val)134430WDR36Conflicting interpretations of pathogenicityrs34661294RCV000328200|RCV001514251; NMedGen:C0339573,OMIM:137760|MedGen:CN5172025110446903110446903AG5:g.110446903A>GClinGen:CA3365733C0339573 137760 Primary open angle glaucoma;
NM_139281.3(WDR36):c.1717-11_1717-10del134430WDR36Benignrs201180028RCV000352816; NMedGen:C0339573,OMIM:1377605110448752110448753ATTA5:g.110448752_110448753delClinGen:CA3365800
NM_139281.3(WDR36):c.1717-20_1717-14delinsATATATATA134430WDR36Uncertain significancers886059764RCV000388759; NMedGen:C0339573,OMIM:1377605110448753110448759TTTTTTTATATATATA5:g.110448753_110448754insTATATATAClinGen:CA10619818
NM_139281.3(WDR36):c.1717-20_1717-14delinsATATATATATA134430WDR36Uncertain significancers886059764RCV000294450; NMedGen:C0339573,OMIM:1377605110448753110448759TTTTTTTATATATATATA5:g.110448753_110448754insTATATATATAClinGen:CA10622160
NM_139281.3(WDR36):c.2538+8_2538+11dup134430WDR36Uncertain significancers886059766RCV000276856; NMedGen:C0339573,OMIM:1377605110461500110461501CCTAAT5:g.110461500_110461501insTAATClinGen:CA10619826
NM_139281.3(WDR36):c.*1040_*1050del134430WDR36Uncertain significancers532039350RCV000286548; NMedGen:C0339573,OMIM:1377605110463617110463627GTTTTGTTTTTTG5:g.110463617_110463627delClinGen:CA10619833C0339573 137760 Primary open angle glaucoma;
NM_139281.3(WDR36):c.*1044_*1045insG134430WDR36Uncertain significancers886059770RCV000377243; NMedGen:C0339573,OMIM:1377605110463625110463626TTG5:g.110463625_110463626insGClinGen:CA10622213C0339573 137760 Primary open angle glaucoma;
NM_139281.3(WDR36):c.*1061del134430WDR36Uncertain significancers886059771RCV000347239; NMedGen:C0339573,OMIM:1377605110463641110463641TGT5:g.110463641_110463641delClinGen:CA10622217C0339573 137760 Primary open angle glaucoma;
NM_139281.3(WDR36):c.*1080dup134430WDR36Likely benignrs200793653RCV000401537; NMedGen:C0339573,OMIM:1377605110463654110463655TTG5:g.110463654_110463655insGClinGen:CA10618756C0339573 137760 Primary open angle glaucoma;
NM_139281.3(WDR36):c.*2279CTT[1]134430WDR36Uncertain significancers886059780RCV000292368; NMedGen:C0339573,OMIM:1377605110464860110464862CCTTC5:g.110464860_110464862delClinGen:CA10622234
NM_139281.3(WDR36):c.*2644del134430WDR36Uncertain significancers747448169RCV000304275; NMedGen:C0339573,OMIM:1377605110465224110465224TAT5:g.110465224_110465224delClinGen:CA10619859
NM_139281.3(WDR36):c.*3598_*3602del134430WDR36Uncertain significancers886059792RCV000398813; NMedGen:C0339573,OMIM:1377605110466176110466180GATATAG5:g.110466176_110466180delClinGen:CA10622250C0339573 137760 Primary open angle glaucoma;
NM_139281.2(WDR36):c.*3631C>T134430WDR36Likely benignrs565965136RCV000301191; NMedGen:C0339573,OMIM:1377605110466212110466212CT5:g.110466212C>TClinGen:CA10654677C0339573 137760 Primary open angle glaucoma;
MSeqDR Portal