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
Term ID:5074
Name:Glaucoma 1, Open Angle, A
Definition:
Alternative IDs:OMIM:137750
ParentIDs:MESH:D005902
TreeNumbers:C11.525.381.407/C564234
Synonyms:Glaucoma, Primary Open Angle, Juvenile-Onset, 1 |GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1;JOAG1 GLAUCOMA 1, OPEN ANGLE, L, INCLUDED |GLC1A |GLC1L, INCLUDED
Slim Mappings:Eye disease
Reference: MedGen: C564234
MeSH: C564234
OMIM: 137750;
MSeqDR LSDB:  
Genes: MYOC;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007905Abnormal iris vasculature
3 HP:0000501Glaucoma
4 HP:0000545Myopia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000261.2(MYOC):c.*426C>T4653MYOCUncertain significancers142425726RCV000333008|RCV000371353; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171604639171604639GA1:g.171604639G>AClinGen:CA10608775
NM_000261.2(MYOC):c.*331A>G4653MYOCUncertain significancers548121911RCV000274235|RCV000331898; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171604734171604734TC1:g.171604734T>CClinGen:CA10608778
NM_000261.2(MYOC):c.*273G>A4653MYOCUncertain significance-1RCV001096763|RCV001096764; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171604792171604792CT1:g.171604792C>T-
NM_000261.2(MYOC):c.*241A>G4653MYOCUncertain significancers186880389RCV000292064|RCV000384078; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171604824171604824TC1:g.171604824T>CClinGen:CA10608272
NM_000261.2(MYOC):c.*188C>T4653MYOCUncertain significancers886045562RCV000325978|RCV000382525; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171604877171604877GA1:g.171604877G>AClinGen:CA10608779
NM_000261.2(MYOC):c.*182C>A4653MYOCUncertain significancers886045563RCV000285690|RCV000343086; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171604883171604883GT1:g.171604883G>TClinGen:CA10608372
NM_000261.2(MYOC):c.*73G>C4653MYOCBenign-1RCV001098513|RCV001098514; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171604992171604992CG1:g.171604992C>G-
NM_000261.2(MYOC):c.*71G>A4653MYOCUncertain significancers886045564RCV000284655|RCV000403727; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171604994171604994CT1:g.171604994C>TClinGen:CA10608273
NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys)4653MYOCPathogenicrs74315332RCV000008414; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605140171605140GT1:g.171605140G>TClinGen:CA119175,UniProtKB:Q99972#VAR_005476,OMIM:601652.0006C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.1430T>G (p.Ile477Ser)4653MYOCPathogenicrs74315331RCV000008413; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605150171605150AC1:g.171605150A>CClinGen:CA119174,UniProtKB:Q99972#VAR_005475,OMIM:601652.0005C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn)4653MYOCPathogenicrs74315331RCV000023126; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605150171605150AT1:g.171605150A>TClinGen:CA129023,UniProtKB:Q99972#VAR_009695,OMIM:601652.0018C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.1345G>A (p.Val449Ile)4653MYOCUncertain significance-1RCV001098516|RCV001098517; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605235171605235CT1:g.171605235C>T-
NM_000261.2(MYOC):c.1309T>C (p.Tyr437His)4653MYOCPathogenicrs74315328RCV000008409; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605271171605271AG1:g.171605271A>GUniProtKB:Q99972#VAR_005474,OMIM:601652.0001,ClinGen:CA119169C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg)4653MYOCPathogenicrs74315338RCV000008419; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605283171605283AG1:g.171605283A>GClinGen:CA119181,UniProtKB:Q99972#VAR_008970,OMIM:601652.0012C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.1272G>C (p.Gln424His)4653MYOCUncertain significance-1RCV001100274|RCV001100275; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605308171605308CG1:g.171605308C>G-
NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu)4653MYOCPathogenicrs74315336RCV000008417; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605313171605313TC1:g.171605313T>CClinGen:CA119178,UniProtKB:Q99972#VAR_009689,OMIM:601652.0010C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.1188G>A (p.Glu396=)4653MYOCBenign/Likely benignrs61730975RCV000337368|RCV000397533|RCV000972663; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:CN5172021171605392171605392CT1:g.171605392C>TClinGen:CA1244067
NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys)4653MYOCUncertain significancers1033533679RCV000852370; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605427171605427CT1:g.171605427C>T-
NM_000261.2(MYOC):c.1138G>C (p.Asp380His)4653MYOCPathogenicrs121909194RCV000008425; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605442171605442CG1:g.171605442C>GUniProtKB:Q99972#VAR_054297,OMIM:601652.0017,ClinGen:CA119186C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu)4653MYOCPathogenicrs74315330RCV000008411|RCV000255144; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:CN5172021171605471171605471GA1:g.171605471G>AClinGen:CA119171,UniProtKB:Q99972#VAR_005472,OMIM:601652.0004CN517202 not provided;
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)4653MYOCPathogenic/Likely pathogenicrs74315329RCV000008412|RCV000369379|RCV000735309|RCV001200372; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0012108,MONDO:MONDO:0007665,MedGen:C0339573,OMIM:137760|6 conditions|MedGen:CN5172021171605478171605478GA1:g.171605478G>AClinGen:CA119172,OMIM:601652.0003C0339573 137760 Primary open angle glaucoma;
NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg)4653MYOCPathogenicrs74315334RCV000008415|RCV000255116; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:CN5172021171605481171605481CT1:g.171605481C>TClinGen:CA119176,UniProtKB:Q99972#VAR_005471,OMIM:601652.0008CN517202 not provided;
NM_000261.2(MYOC):c.1091G>T (p.Gly364Val)4653MYOCPathogenicrs121909193RCV000008410; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605489171605489CA1:g.171605489C>AClinGen:CA119170,UniProtKB:Q99972#VAR_005470,OMIM:601652.0002C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys)4653MYOCBenign-1RCV001100277|RCV001100278; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605526171605526CT1:g.171605526C>T-
NM_000261.2(MYOC):c.1053C>T (p.Thr351=)4653MYOCUncertain significance-1RCV001100279|RCV001102258; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605527171605527GA1:g.171605527G>A-
NM_000261.2(MYOC):c.1041T>C (p.Tyr347=)4653MYOCBenign/Likely benignrs61730974RCV000297747|RCV000397534|RCV000427737; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:CN1693741171605539171605539AG1:g.171605539A>GClinGen:CA1244091
NM_000261.2(MYOC):c.1010A>G (p.Gln337Arg)4653MYOCPathogenicrs74315335RCV000008416; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605570171605570TC1:g.171605570T>CClinGen:CA119177,UniProtKB:Q99972#VAR_005469,OMIM:601652.0009C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.992C>T (p.Ser331Leu)4653MYOCUncertain significancers775982158RCV000311074|RCV000368089; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171605588171605588GA1:g.171605588G>AClinGen:CA1244102
NM_000261.2(MYOC):c.975G>A (p.Thr325=)4653MYOCBenignrs61730976RCV000271061|RCV000328410|RCV000952463; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:CN5172021171605605171605605CT1:g.171605605C>TClinGen:CA1244108
NM_000261.2(MYOC):c.878C>A (p.Thr293Lys)4653MYOCUncertain significance-1RCV001102259; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605702171605702GT1:g.171605702G>T-
NM_000261.2(MYOC):c.871G>A (p.Val291Ile)4653MYOCUncertain significancers886045565RCV000269977|RCV000362229; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605709171605709CT1:g.171605709C>TClinGen:CA10608375
NM_000261.2(MYOC):c.865G>A (p.Asp289Asn)4653MYOCUncertain significancers767627671RCV000323016|RCV000380001; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605715171605715CT1:g.171605715C>TClinGen:CA1244135
NM_000261.2(MYOC):c.864C>T (p.Ile288=)4653MYOCBenign/Likely benign-1RCV001096857|RCV001096858; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171605716171605716GA1:g.171605716G>A-
NM_000261.2(MYOC):c.855G>T (p.Thr285=)4653MYOCConflicting interpretations of pathogenicityrs146606638RCV000177024|RCV000283082|RCV000321707|RCV000994188; NMedGen:CN169374|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:CN5172021171605725171605725CA1:g.171605725C>AClinGen:CA202234C0017601 Glaucoma;
NM_000261.2(MYOC):c.801T>C (p.Tyr267=)4653MYOCUncertain significance-1RCV001098612|RCV001098613; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605779171605779AG1:g.171605779A>G-
NM_000261.2(MYOC):c.754G>A (p.Gly252Arg)4653MYOCPathogenicrs74315341RCV000008424; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605826171605826CT1:g.171605826C>TClinGen:CA119185,UniProtKB:Q99972#VAR_054283,OMIM:601652.0016C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr)4653MYOCPathogenicrs74315340RCV000008423; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171605846171605846CT1:g.171605846C>TClinGen:CA119184,UniProtKB:Q99972#VAR_054281,OMIM:601652.0015C1842028 137750 Primary open angle glaucoma juvenile onset 1;
NM_000261.2(MYOC):c.728C>A (p.Thr243Asn)4653MYOCUncertain significancers781655611RCV000282102|RCV000374266; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171607739171607739GT1:g.171607739G>TClinGen:CA1244183
NM_000261.2(MYOC):c.652G>A (p.Glu218Lys)4653MYOCUncertain significance-1RCV001098614|RCV001098615; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171607815171607815CT1:g.171607815C>T-
NM_000261.2(MYOC):c.648G>A (p.Lys216=)4653MYOCUncertain significancers141584495RCV000334709|RCV000402548; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171607819171607819CT1:g.171607819C>TClinGen:CA1244204
NM_000261.2(MYOC):c.624C>G (p.Asp208Glu)4653MYOCBenign-1RCV001100393|RCV001100394; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171607843171607843GC1:g.171607843G>C-
NM_000261.2(MYOC):c.612G>T (p.Thr204=)4653MYOCBenign/Likely benignrs57824969RCV000903503|RCV001100395|RCV001100396; NMedGen:CN517202|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171607855171607855CA1:g.171607855C>A-
NM_000261.2(MYOC):c.612G>A (p.Thr204=)4653MYOCUncertain significance-1RCV001100397|RCV001100398; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171607855171607855CT1:g.171607855C>T-
NM_000261.2(MYOC):c.611C>T (p.Thr204Met)4653MYOCUncertain significance-1RCV001100399|RCV001100400; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171607856171607856GA1:g.171607856G>A-
NM_000261.2(MYOC):c.600A>G (p.Arg200=)4653MYOCUncertain significance-1RCV001102365|RCV001102366; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171621152171621152TC1:g.171621152T>C-
NM_000261.2(MYOC):c.573T>A (p.Thr191=)4653MYOCUncertain significance-1RCV001102367|RCV001102368; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171621179171621179AT1:g.171621179A>T-
NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr)4653MYOCUncertain significancers201930435RCV000295103|RCV000352302; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171621184171621184CA1:g.171621184C>AClinGen:CA1244255
NM_000261.2(MYOC):c.477A>G (p.Leu159=)4653MYOCBenignrs61730977RCV000312787|RCV000390810|RCV000946526; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MedGen:CN5172021171621275171621275TC1:g.171621275T>CClinGen:CA1244271
NM_000261.2(MYOC):c.473G>A (p.Arg158Gln)4653MYOCUncertain significance-1RCV001096962|RCV001096963; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171621279171621279CT1:g.171621279C>T-
NM_000261.2(MYOC):c.440G>A (p.Arg147Gln)4653MYOCUncertain significancers114283307RCV000346645|RCV000396227|RCV000994190; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MedGen:CN5172021171621312171621312CT1:g.171621312C>TClinGen:CA1244277C0017601 Glaucoma;
NM_000261.2(MYOC):c.369C>T (p.Thr123=)4653MYOCUncertain significance-1RCV001096964|RCV001096965; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171621383171621383GA1:g.171621383G>A-
NM_000261.2(MYOC):c.366C>T (p.Gly122=)4653MYOCConflicting interpretations of pathogenicityrs145354114RCV000173090|RCV001096966; NMedGen:CN517202|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171621386171621386GA1:g.171621386G>AClinGen:CA238570CN169374 not specified;
NM_000261.2(MYOC):c.335A>G (p.Glu112Gly)4653MYOCUncertain significancers886045566RCV000310099|RCV000364737; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171621417171621417TC1:g.171621417T>CClinGen:CA10608378
NM_000261.2(MYOC):c.304T>A (p.Leu102Met)4653MYOCUncertain significancers140017103RCV000265391|RCV000301813; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171621448171621448AT1:g.171621448A>TClinGen:CA10608379
NM_000261.2(MYOC):c.239C>A (p.Thr80Asn)4653MYOCUncertain significancers886045567RCV000266535|RCV000361088; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171621513171621513GT1:g.171621513G>TClinGen:CA10608383
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys)4653MYOCConflicting interpretations of pathogenicityrs2234926RCV000173089|RCV000316846|RCV000371420|RCV000994193; NMedGen:CN169374|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:CN5172021171621525171621525CT1:g.171621525C>TClinGen:CA200294,UniProtKB:Q99972#VAR_009670C0017601 Glaucoma;
NM_000261.2(MYOC):c.224A>G (p.Gln75Arg)4653MYOCUncertain significancers886045568RCV000262848|RCV000318054; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171621528171621528TC1:g.171621528T>CClinGen:CA10608781
NM_000261.2(MYOC):c.144G>T (p.Gln48His)4653MYOCPathogenicrs74315339RCV000008421|RCV000008422|RCV000296614; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:C1866550|MedGen:CN2393301171621608171621608CA1:g.171621608C>AClinGen:CA119183,UniProtKB:Q99972#VAR_054272,OMIM:601652.0014C1866550 Glaucoma 3, primary congenital, a, digenic;
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter)4653MYOCBenign/Likely benignrs74315337RCV000008418|RCV000944958|RCV000991157|RCV001100518; NMedGen:C4016749|MedGen:CN517202|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171621616171621616GA1:g.171621616G>AClinGen:CA119179,OMIM:601652.0011C4016749 Glaucoma 1, open angle, a, autosomal recessive;
NM_000261.2(MYOC):c.114G>A (p.Arg38=)4653MYOCUncertain significancers767644139RCV000351474|RCV000386311; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171621638171621638CT1:g.171621638C>TClinGen:CA1244327
NM_000261.2(MYOC):c.39T>G (p.Pro13=)4653MYOCBenignrs12082573RCV000288537|RCV000382716|RCV000946527; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|MedGen:CN5172021171621713171621713AC1:g.171621713A>CClinGen:CA1244342C0017601 Glaucoma;
NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)4653MYOCBenign/Likely benign-1RCV001100519|RCV001102463; NHuman Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601|MONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:989771171621718171621718CG1:g.171621718C>G-
NM_000261.2(MYOC):c.31T>C (p.Phe11Leu)4653MYOCUncertain significance-1RCV001102464|RCV001102465; NMONDO:MONDO:0007664,MedGen:C1842028,OMIM:137750, Orphanet:98977|Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C00176011171621721171621721AG1:g.171621721A>G-
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