Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000104.3(CYP1B1):c.1200_1209dupTCATGCCACC (p.Thr404Serfs) | 1545 | CYP1B1 | Pathogenic | 587778873 | RCV000059336; | N | MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003 | 2 | 38298288 | 38298297 | NM_000104.3:c.1200_1209dupTCATGCCACC | NP_000095.2:p.Thr404Serfs | NC_000002.11:g.38298288_38298297dupGGTGGCATGA | - | C0344559 604229 Irido-corneo-trabecular dysgenesis | | |
NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) | 1545 | CYP1B1 | Pathogenic | 72549387 | RCV000008176; RCV000169657; | N | MedGen:C0020302,OMIM:231300; MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003 | 2 | 38302361 | 38302361 | NM_000104.3:c.171G>A | NP_000095.2:p.Trp57Ter | NC_000002.11:g.38302361C>T | OMIM Allelic Variant:601771.0010 | C0020302 231300 Glaucoma, congenital; C0344559 604229 Irido-corneo-trabecular dysgenesis | | |
NM_000104.3(CYP1B1):c.2T>C (p.Met1Thr) | 1545 | CYP1B1 | Pathogenic | 72549389 | RCV000008175; | N | MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003 | 2 | 38302530 | 38302530 | NM_000104.3:c.2T>C | NP_000095.2:p.Met1Thr | NC_000002.11:g.38302530A>G | OMIM Allelic Variant:601771.0009 | C0344559 604229 Irido-corneo-trabecular dysgenesis | | |
NM_001453.2(FOXC1):c.335T>C (p.Phe112Ser) | 2296 | FOXC1 | Pathogenic | 104893951 | RCV000008972; RCV000008970; RCV000008971; | N | MedGen:C0266548,ORPHA:98978; MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003; MedGen:C2678503,OMIM:602482 | 6 | 1611015 | 1611015 | NM_001453.2:c.335T>C | NP_001444.2:p.Phe112Ser | NC_000006.11:g.1611015T>C | OMIM Allelic Variant:601090.0004 | C0266548 Axenfeld anomaly; C2678503 602482 Axenfeld-Rieger syndrome type 3; C0344559 604229 Irido-corneo-trabecular dysgenesis | | |
NM_001453.2(FOXC1):c.358C>T (p.Gln120Ter) | 2296 | FOXC1 | Pathogenic | 121909339 | RCV000008982; RCV000008981; | N | MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003; MedGen:C2678503,OMIM:602482 | 6 | 1611038 | 1611038 | NM_001453.2:c.358C>T | NP_001444.2:p.Gln120Ter | NC_000006.11:g.1611038C>T | OMIM Allelic Variant:601090.0011 | C2678503 602482 Axenfeld-Rieger syndrome type 3; C0344559 604229 Irido-corneo-trabecular dysgenesis | | |
NM_000280.4(PAX6):c.152G>T (p.Gly51Val) | 5080 | PAX6 | Pathogenic | 587778874 | RCV000059340; | N | MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003 | 11 | 31823314 | 31823314 | NM_000280.4:c.152G>T | NP_000271.1:p.Gly51Val | NC_000011.9:g.31823314C>A | - | C0344559 604229 Irido-corneo-trabecular dysgenesis | | |
NM_001604.5(PAX6):c.161T>A (p.Val54Asp) | 5080 | PAX6 | Pathogenic | 121907921 | RCV000003638; RCV000128793; | N | MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003; MedGen:C4017657 | 11 | 31823441 | 31823441 | NM_001604.5:c.161T>A | NP_001595.2:p.Val54Asp | NC_000011.9:g.31823441A>T | OMIM Allelic Variant:607108.0015 | C4017657 Foveal hypoplasia 1 with or without anterior segment anomalies; C0344559 604229 Irido-corneo-trabecular dysgenesis | | |
NM_000280.4(PAX6):c.76C>G (p.Arg26Gly) | 5080 | PAX6 | Pathogenic | 121907913 | RCV000003628; RCV000003627; | N | MedGen:C0003076,OMIM:106210,ORPHA:250923,SNOMED CT:69278003; MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003 | 11 | 31824317 | 31824317 | NM_000280.4:c.76C>G | NP_000271.1:p.Arg26Gly | NC_000011.9:g.31824317G>C | OMIM Allelic Variant:607108.0004 | C0003076 106210 Congenital aniridia; C0344559 604229 Irido-corneo-trabecular dysgenesis | | |