Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_033380.2(COL4A5):c.(?_-129378)_(81_?)del (p.?) | -1 | - | Pathogenic | -1 | RCV000021087; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107553978 | 107683436 | - | - | | dbVar:nssv7487011,dbVar:nsv1197444 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.(?_-202)-1982_(81_?)del | -1 | - | Pathogenic | -1 | RCV000032043; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107681172 | 107683436 | NM_000495.4:c.(?_-202)-1982_(81_?)del | | | dbVar:nssv7487034,dbVar:nsv1197445 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.(?_-202)-1982_(81_?)del | -1 | - | Pathogenic | -1 | RCV000032045; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107681172 | 107683436 | NM_000495.4:c.(?_-202)-1982_(81_?)del | | | dbVar:nssv7487035,dbVar:nsv1197446 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del | -1 | - | Pathogenic | -1 | RCV000021086; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107681416 | 107683436 | NM_000495.4:c.(?_-202)-1738_(81_?)del | | | dbVar:nssv7487010,dbVar:nsv1197493 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del | -1 | - | Pathogenic | -1 | RCV000021089; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107681416 | 107683436 | NM_000495.4:c.(?_-202)-1738_(81_?)del | | | dbVar:nssv7487012,dbVar:nsv1197477 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del | -1 | - | Pathogenic | -1 | RCV000021090; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107681416 | 107683436 | NM_000495.4:c.(?_-202)-1738_(81_?)del | | | dbVar:nssv7487013,dbVar:nsv1197485 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del | -1 | - | Pathogenic | -1 | RCV000021091; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107681416 | 107683436 | NM_000495.4:c.(?_-202)-1738_(81_?)del | | | dbVar:nssv7487014,dbVar:nsv1197486 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.3(COL4A5):c.1-?_5058+?del | -1 | - | Pathogenic | -1 | RCV000032046; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107681416 | 107939608 | NM_000495.3:c.1-?_5058+?del | | | dbVar:nssv7487036,dbVar:nsv1197377 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1A>G (p.Met1Val) | 1287 | COL4A5 | Pathogenic | 104886050 | RCV000021092; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107683356 | 107683356 | NM_000495.4:c.1A>G | NP_000486.1:p.Met1Val | NC_000023.10:g.107683356A>G | ARUP_COL4A5:NM_000495.3:c.1A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2_3delTG (p.Met1Lysfs) | 1287 | COL4A5 | Pathogenic | 104886376 | RCV000021103; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107683357 | 107683358 | NM_000495.4:c.2_3delTG | NP_000486.1:p.Met1Lysfs | NC_000023.10:g.107683357_107683358delTG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.13G>T (p.Gly5Ter) | 1287 | COL4A5 | Pathogenic | 104886049 | RCV000021104; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107683368 | 107683368 | NM_000495.4:c.13G>T | NP_000486.1:p.Gly5Ter | NC_000023.10:g.107683368G>T | ARUP_COL4A5:NM_000495.3:c.13G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.38_41dupTCTT (p.Leu14Phefs) | 1287 | COL4A5 | Pathogenic | 104886408 | RCV000021105; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107683393 | 107683396 | NM_000495.4:c.38_41dupTCTT | NP_000486.1:p.Leu14Phefs | NC_000023.10:g.107683393_107683396dupTCTT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.49_50delCT (p.Leu17Glufs) | 1287 | COL4A5 | Pathogenic | 104886427 | RCV000021106; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107683404 | 107683405 | NM_000495.4:c.49_50delCT | NP_000486.1:p.Leu17Glufs | NC_000023.10:g.107683404_107683405delCT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.65_77delAGCCTGCAGAGGC (p.Gln22Leufs) | 1287 | COL4A5 | Pathogenic | 281874760 | RCV000021107; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107683420 | 107683432 | NM_000495.4:c.65_77delAGCCTGCAGAGGC | NP_000486.1:p.Gln22Leufs | NC_000023.10:g.107683420_107683432delAGCCTGCAGAGGC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.81+1G>C | 1287 | COL4A5 | Pathogenic | 281874765 | RCV000021083; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107683437 | 107683437 | NM_000495.4:c.81+1G>C | | NC_000023.10:g.107683437G>C | ARUP_COL4A5:NM_000495.3:c.81+1G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.82-?_3373+?del | 1287 | COL4A5 | Pathogenic | -1 | RCV000021112; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107683437 | 107908736 | NM_000495.4:c.82-?_3373+?del | | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
COL4A5:c.82-?_141+?del (p.Ala28_Lys47del) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021115; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107683437 | 107802293 | NM_000495.4:c.82-?_141+?del | | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.82-?_1165+?del | 1287 | COL4A5 | Pathogenic | -1 | RCV000021110; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107782976 | 107829977 | NM_000495.4:c.82-?_1165+?del | | | dbVar:nssv7487015,dbVar:nsv1197487 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.82-?_3246+?del | 1287 | COL4A5 | Pathogenic | -1 | RCV000021111; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107782976 | 107869579 | NM_000495.4:c.82-?_3246+?del | | | dbVar:nssv7487016,dbVar:nsv1197488 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.82G>T (p.Ala28Ser) | 1287 | COL4A5 | Pathogenic | 869025333 | RCV000207631; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107782976 | 107782976 | NM_033380.2:c.82G>T | NP_203699.1:p.Ala28Ser | NC_000023.10:g.107782976G>T | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.87C>A (p.Cys29Ter) | 1287 | COL4A5 | Pathogenic | 104886048 | RCV000021116; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107782981 | 107782981 | NM_000495.4:c.87C>A | NP_000486.1:p.Cys29Ter | NC_000023.10:g.107782981C>A | ARUP_COL4A5:NM_000495.3:c.87C>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.90T>G (p.Tyr30Ter) | 1287 | COL4A5 | Pathogenic | 104886047 | RCV000021117; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107782984 | 107782984 | NM_000495.4:c.90T>G | NP_000486.1:p.Tyr30Ter | NC_000023.10:g.107782984T>G | ARUP_COL4A5:NM_000495.3:c.90T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.119delG (p.Cys40Serfs) | 1287 | COL4A5 | Pathogenic | 104886042 | RCV000021118; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107783013 | 107783013 | NM_000495.4:c.119delG | NP_000486.1:p.Cys40Serfs | NC_000023.10:g.107783013delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.142-?_3373+?del | 1287 | COL4A5 | Pathogenic | -1 | RCV000021120; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107783036 | 107908736 | NM_000495.4:c.142-?_3373+?del | | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.142-?_2677+?del | 1287 | COL4A5 | Pathogenic | -1 | RCV000021121; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107783036 | 107865032 | NM_000495.4:c.142-?_2677+?del | | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
COL4A5:c.142-?_231+?del(p.Gly48_Lys77del) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021124; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107783036 | 107807111 | NM_000495.4:c.142-?_231+?del | | | dbVar:nssv7487017,dbVar:nsv1197489 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.142-1G>A | 1287 | COL4A5 | Pathogenic | 104886323 | RCV000021119; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107802293 | 107802293 | NM_000495.4:c.142-1G>A | | NC_000023.10:g.107802293G>A | ARUP_COL4A5:NM_000495.3:c.142-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.142G>A (p.Gly48Arg) | 1287 | COL4A5 | Pathogenic | 281874669 | RCV000021122; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107802294 | 107802294 | NM_000495.4:c.142G>A | NP_000486.1:p.Gly48Arg | NC_000023.10:g.107802294G>A | ARUP_COL4A5:NM_000495.3:c.142G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.161G>A (p.Gly54Asp) | 1287 | COL4A5 | Pathogenic | 104886043 | RCV000011211; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107802313 | 107802313 | NM_000495.4:c.161G>A | NP_000486.1:p.Gly54Asp | NC_000023.10:g.107802313G>A | ARUP_COL4A5:NM_000495.3:c.161G>A,OMIM Allelic Variant:303630.0013 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.231+1G>A | 1287 | COL4A5 | Pathogenic | 104886349 | RCV000021126; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107802384 | 107802384 | NM_000495.4:c.231+1G>A | | NC_000023.10:g.107802384G>A | ARUP_COL4A5:NM_000495.3:c.231+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.232-?_4510+?del | 1287 | COL4A5 | Pathogenic | -1 | RCV000021131; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107802384 | 107935977 | NM_000495.4:c.232-?_4510+?del | | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.232-1G>T | 1287 | COL4A5 | Pathogenic | 104886350 | RCV000021127; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107807111 | 107807111 | NM_000495.4:c.232-1G>T | | NC_000023.10:g.107807111G>A,NC_000023.10:g.107807111G>T | ARUP_COL4A5:NM_000495.3:c.232-1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.232-1G>A | 1287 | COL4A5 | Pathogenic | 104886350 | RCV000021128; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107807111 | 107807111 | NM_000495.4:c.232-1G>A | | NC_000023.10:g.107807111G>A,NC_000023.10:g.107807111G>T | ARUP_COL4A5:NM_000495.3:c.232-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.232-?_2041+?del | 1287 | COL4A5 | Pathogenic | -1 | RCV000021129; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107807112 | 107844715 | NM_000495.4:c.232-?_2041+?del | | | dbVar:nssv7487018,dbVar:nsv1197490 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.250delG (p.Pro85Hisfs) | 1287 | COL4A5 | Pathogenic | 104886044 | RCV000021132; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107807130 | 107807130 | NM_000495.4:c.250delG | NP_000486.1:p.Pro85Hisfs | NC_000023.10:g.107807130delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.276+5G>A | 1287 | COL4A5 | Pathogenic | 104886365 | RCV000021133; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107807161 | 107807161 | NM_000495.4:c.276+5G>A | | NC_000023.10:g.107807161G>A | ARUP_COL4A5:NM_000495.3:c.276+5G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.277-1G>T | 1287 | COL4A5 | Pathogenic | 104886367 | RCV000021134; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107811858 | 107811858 | NM_000495.4:c.277-1G>T | | NC_000023.10:g.107811858G>T | ARUP_COL4A5:NM_000495.3:c.277-1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.286G>A (p.Gly96Arg) | 1287 | COL4A5 | Pathogenic | 281874706 | RCV000021136; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107811868 | 107811868 | NM_000495.4:c.286G>A | NP_000486.1:p.Gly96Arg | NC_000023.10:g.107811868G>A | ARUP_COL4A5:NM_000495.3:c.286G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.293delC (p.Pro98Leufs) | 1287 | COL4A5 | Pathogenic | 104886045 | RCV000021137; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107811875 | 107811875 | NM_000495.4:c.293delC | NP_000486.1:p.Pro98Leufs | NC_000023.10:g.107811875delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.322-1G>A | 1287 | COL4A5 | Pathogenic | 104886375 | RCV000021138; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107811988 | 107811988 | NM_000495.4:c.322-1G>A | | NC_000023.10:g.107811988G>A | ARUP_COL4A5:NM_000495.3:c.322-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.351_359delACCTCAAGG (p.Pro118_Gly120del) | 1287 | COL4A5 | Pathogenic | 104886390 | RCV000021139; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107812018 | 107812026 | NM_000495.4:c.351_359delACCTCAAGG | NP_000486.1:p.Pro118_Gly120del | NC_000023.10:g.107812018_107812026delACCTCAAGG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.368delG (p.Gly123Aspfs) | 1287 | COL4A5 | Pathogenic | 104886046 | RCV000021140; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107812035 | 107812035 | NM_000495.4:c.368delG | NP_000486.1:p.Gly123Aspfs | NC_000023.10:g.107812035delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.385-719G>A | 1287 | COL4A5 | Pathogenic | 104886396 | RCV000021141; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107813924 | 107813924 | NM_000495.4:c.385-719G>A | | NC_000023.10:g.107813924G>A | ARUP_COL4A5:NM_000495.3:c.385-719G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.385-1G>C | 1287 | COL4A5 | Pathogenic | 104886395 | RCV000021142; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814642 | 107814642 | NM_000495.4:c.385-1G>C | | NC_000023.10:g.107814642G>C | ARUP_COL4A5:NM_000495.3:c.385-1G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.385G>A (p.Gly129Arg) | 1287 | COL4A5 | Pathogenic | 281874722 | RCV000021143; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814643 | 107814643 | NM_000495.4:c.385G>A | NP_000486.1:p.Gly129Arg | NC_000023.10:g.107814643G>A | ARUP_COL4A5:NM_000495.3:c.385G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.386G>A (p.Gly129Glu) | 1287 | COL4A5 | Pathogenic | 281874723 | RCV000021144; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814644 | 107814644 | NM_000495.4:c.386G>A | NP_000486.1:p.Gly129Glu | NC_000023.10:g.107814644G>A,NC_000023.10:g.107814644G>T | ARUP_COL4A5:NM_000495.3:c.386G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.386G>T (p.Gly129Val) | 1287 | COL4A5 | Pathogenic | 281874723 | RCV000021145; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814644 | 107814644 | NM_000495.4:c.386G>T | NP_000486.1:p.Gly129Val | NC_000023.10:g.107814644G>A,NC_000023.10:g.107814644G>T | ARUP_COL4A5:NM_000495.3:c.386G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.388G>T (p.Glu130Ter) | 1287 | COL4A5 | Pathogenic | 104886051 | RCV000021146; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814646 | 107814646 | NM_000495.4:c.388G>T | NP_000486.1:p.Glu130Ter | NC_000023.10:g.107814646G>T | ARUP_COL4A5:NM_000495.3:c.388G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.430G>A (p.Gly144Ser) | 1287 | COL4A5 | Pathogenic | 104886052 | RCV000021147; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814688 | 107814688 | NM_000495.4:c.430G>A | NP_000486.1:p.Gly144Ser | NC_000023.10:g.107814688G>A,NC_000023.10:g.107814688G>C | ARUP_COL4A5:NM_000495.3:c.430G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.430G>C (p.Gly144Arg) | 1287 | COL4A5 | Pathogenic | 104886052 | RCV000032049; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814688 | 107814688 | NM_000495.4:c.430G>C | NP_000486.1:p.Gly144Arg | NC_000023.10:g.107814688G>A,NC_000023.10:g.107814688G>C | ARUP_COL4A5:NM_000495.3:c.430G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.431G>A (p.Gly144Asp) | 1287 | COL4A5 | Pathogenic | 281874737 | RCV000021148; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814689 | 107814689 | NM_000495.4:c.431G>A | NP_000486.1:p.Gly144Asp | NC_000023.10:g.107814689G>A | ARUP_COL4A5:NM_000495.3:c.431G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.438+2T>C | 1287 | COL4A5 | Pathogenic | 281874738 | RCV000032050; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814698 | 107814698 | NM_000495.4:c.438+2T>C | | NC_000023.10:g.107814698T>C | ARUP_COL4A5:NM_000495.3:c.438+2T>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.438+5G>A | 1287 | COL4A5 | Pathogenic | 281874739 | RCV000021149; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107814701 | 107814701 | NM_000495.4:c.438+5G>A | | NC_000023.10:g.107814701G>A | ARUP_COL4A5:NM_000495.3:c.438+5G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.440delG (p.Gly147Aspfs) | 1287 | COL4A5 | Pathogenic | 104886053 | RCV000021150; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107815042 | 107815042 | NM_000495.4:c.440delG | NP_000486.1:p.Gly147Aspfs | NC_000023.10:g.107815042delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.442dupC (p.Gly150Trpfs) | 1287 | COL4A5 | Pathogenic | 104886419 | RCV000021151; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107815044 | 107815044 | NM_000495.4:c.442dupC | NP_000486.1:p.Gly150Trpfs | NC_000023.10:g.107815044dupC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.446delC (p.Pro149Leufs) | 1287 | COL4A5 | Pathogenic | 104886054 | RCV000021152; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107815048 | 107815048 | NM_000495.4:c.446delC | NP_000486.1:p.Pro149Leufs | NC_000023.10:g.107815048delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.466-17T>G | 1287 | COL4A5 | Pathogenic | 104886415 | RCV000021153; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816787 | 107816787 | NM_000495.4:c.466-17T>G | | NC_000023.10:g.107816787T>G | ARUP_COL4A5:NM_000495.3:c.466-17T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.466-12G>A | 1287 | COL4A5 | Pathogenic | 104886414 | RCV000021154; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816792 | 107816792 | NM_000495.4:c.466-12G>A | | NC_000023.10:g.107816792G>A | ARUP_COL4A5:NM_000495.3:c.466-12G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.466-2A>G | 1287 | COL4A5 | Pathogenic | 104886416 | RCV000021155; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816802 | 107816802 | NM_000495.4:c.466-2A>G | | NC_000023.10:g.107816802A>G | ARUP_COL4A5:NM_000495.3:c.466-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.476delG (p.Gly159Valfs) | 1287 | COL4A5 | Pathogenic | 281874748 | RCV000032051; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816814 | 107816814 | NM_000495.4:c.476delG | NP_000486.1:p.Gly159Valfs | NC_000023.10:g.107816814delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.520G>C (p.Gly174Arg) | 1287 | COL4A5 | Pathogenic | 104886055 | RCV000021156; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816858 | 107816858 | NM_000495.4:c.520G>C | NP_000486.1:p.Gly174Arg | NC_000023.10:g.107816858G>C | ARUP_COL4A5:NM_000495.3:c.520G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.529G>T (p.Gly177Cys) | 1287 | COL4A5 | Pathogenic | 104886056 | RCV000021157; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816867 | 107816867 | NM_000495.4:c.529G>T | NP_000486.1:p.Gly177Cys | NC_000023.10:g.107816867G>C,NC_000023.10:g.107816867G>T | ARUP_COL4A5:NM_000495.3:c.529G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.529G>C (p.Gly177Arg) | 1287 | COL4A5 | Pathogenic | 104886056 | RCV000021158; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816867 | 107816867 | NM_000495.4:c.529G>C | NP_000486.1:p.Gly177Arg | NC_000023.10:g.107816867G>C,NC_000023.10:g.107816867G>T | ARUP_COL4A5:NM_000495.3:c.529G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.533delC (p.Pro178Leufs) | 1287 | COL4A5 | Pathogenic | 104886058 | RCV000021159; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816871 | 107816871 | NM_000495.4:c.533delC | NP_000486.1:p.Pro178Leufs | NC_000023.10:g.107816871delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.538G>A (p.Gly180Arg) | 1287 | COL4A5 | Pathogenic | 281874755 | RCV000021160; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816876 | 107816876 | NM_000495.4:c.538G>A | NP_000486.1:p.Gly180Arg | NC_000023.10:g.107816876G>A | ARUP_COL4A5:NM_000495.3:c.538G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.546+1G>A | 1287 | COL4A5 | Pathogenic | 104886429 | RCV000021162; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816885 | 107816885 | NM_000495.4:c.546+1G>A | | NC_000023.10:g.107816885G>A | ARUP_COL4A5:NM_000495.3:c.546+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.546+3_546+4insT (p.?) | 1287 | COL4A5 | Pathogenic | 104886430 | RCV000021163; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107816887 | 107816888 | NM_033380.2:c.546+3_546+4insT | NP_203699.1:p.? | NC_000023.10:g.107816887_107816888insT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.547-2A>G | 1287 | COL4A5 | Pathogenic | 281874756 | RCV000021164; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819138 | 107819138 | NM_000495.4:c.547-2A>G | | NC_000023.10:g.107819138A>G | ARUP_COL4A5:NM_000495.3:c.547-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.547-1G>A | 1287 | COL4A5 | Pathogenic | 104886431 | RCV000021165; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819139 | 107819139 | NM_000495.4:c.547-1G>A | | NC_000023.10:g.107819139G>A | ARUP_COL4A5:NM_000495.3:c.547-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.547dupG (p.Leu184Profs) | 1287 | COL4A5 | Pathogenic | 104886432 | RCV000021166; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819140 | 107819140 | NM_000495.4:c.547dupG | NP_000486.1:p.Leu184Profs | NC_000023.10:g.107819140dupG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.548G>T (p.Gly183Val) | 1287 | COL4A5 | Pathogenic | 104886059 | RCV000021167; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819141 | 107819141 | NM_000495.4:c.548G>T | NP_000486.1:p.Gly183Val | NC_000023.10:g.107819141G>T | ARUP_COL4A5:NM_000495.3:c.548G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.550dupC (p.Leu184Profs) | 1287 | COL4A5 | Pathogenic | 104886433 | RCV000021168; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819143 | 107819143 | NM_000495.4:c.550dupC | NP_000486.1:p.Leu184Profs | NC_000023.10:g.107819143dupC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.573_574insGA (p.Gly192Glufs) | 1287 | COL4A5 | Pathogenic | 281874757 | RCV000032052; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819166 | 107819167 | NM_000495.4:c.573_574insGA | NP_000486.1:p.Gly192Glufs | NC_000023.10:g.107819166_107819167insGA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.574G>A (p.Gly192Arg) | 1287 | COL4A5 | Pathogenic | 104886060 | RCV000021169; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819167 | 107819167 | NM_000495.4:c.574G>A | NP_000486.1:p.Gly192Arg | NC_000023.10:g.107819167G>A | ARUP_COL4A5:NM_000495.3:c.574G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.584G>A (p.Gly195Asp) | 1287 | COL4A5 | Pathogenic | 104886061 | RCV000021170; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819177 | 107819177 | NM_000495.4:c.584G>A | NP_000486.1:p.Gly195Asp | NC_000023.10:g.107819177G>A | ARUP_COL4A5:NM_000495.3:c.584G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.593G>A (p.Gly198Glu) | 1287 | COL4A5 | Pathogenic | 104886057 | RCV000021171; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819186 | 107819186 | NM_000495.4:c.593G>A | NP_000486.1:p.Gly198Glu | NC_000023.10:g.107819186G>A | ARUP_COL4A5:NM_000495.3:c.593G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.602G>T (p.Gly201Val) | 1287 | COL4A5 | Pathogenic | 104886062 | RCV000021172; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819195 | 107819195 | NM_000495.4:c.602G>T | NP_000486.1:p.Gly201Val | NC_000023.10:g.107819195G>T | ARUP_COL4A5:NM_000495.3:c.602G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.609+1G>A | 1287 | COL4A5 | Pathogenic | 104886434 | RCV000021173; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819203 | 107819203 | NM_000495.4:c.609+1G>A | | NC_000023.10:g.107819203G>A | ARUP_COL4A5:NM_000495.3:c.609+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.609+21T>C | 1287 | COL4A5 | Benign | 6622333 | RCV000021174; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107819223 | 107819223 | NM_000495.4:c.609+21T>C | | NC_000023.10:g.107819223T>C | ARUP_COL4A5:NM_000495.3:c.609+21T>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.610-2A>G | 1287 | COL4A5 | Pathogenic | 281874758 | RCV000021176; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821180 | 107821180 | NM_000495.4:c.610-2A>G | | NC_000023.10:g.107821180A>G | ARUP_COL4A5:NM_000495.3:c.610-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.610_628del19 (p.Gly204Aspfs) | 1287 | COL4A5 | Pathogenic | 104886435 | RCV000021177; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821182 | 107821200 | NM_000495.4:c.610_628del19 | NP_000486.1:p.Gly204Aspfs | NC_000023.10:g.107821182_107821200del19 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.611G>A (p.Gly204Asp) | 1287 | COL4A5 | Pathogenic | 104886063 | RCV000021178; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821183 | 107821183 | NM_000495.4:c.611G>A | NP_000486.1:p.Gly204Asp | NC_000023.10:g.107821183G>A,NC_000023.10:g.107821183G>T | ARUP_COL4A5:NM_000495.3:c.611G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.611G>T (p.Gly204Val) | 1287 | COL4A5 | Pathogenic | 104886063 | RCV000021179; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821183 | 107821183 | NM_000495.4:c.611G>T | NP_000486.1:p.Gly204Val | NC_000023.10:g.107821183G>A,NC_000023.10:g.107821183G>T | ARUP_COL4A5:NM_000495.3:c.611G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.611_612delGC (p.Gly204Alafs) | 1287 | COL4A5 | Pathogenic | 281874759 | RCV000021180; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821183 | 107821184 | NM_000495.4:c.611_612delGC | NP_000486.1:p.Gly204Alafs | NC_000023.10:g.107821183_107821184delGC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.634delC (p.Pro212Glnfs) | 1287 | COL4A5 | Pathogenic | 104886065 | RCV000021181; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821206 | 107821206 | NM_000495.4:c.634delC | NP_000486.1:p.Pro212Glnfs | NC_000023.10:g.107821206delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.638G>A (p.Gly213Glu) | 1287 | COL4A5 | Pathogenic | 104886066 | RCV000021182; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821210 | 107821210 | NM_000495.4:c.638G>A | NP_000486.1:p.Gly213Glu | NC_000023.10:g.107821210G>A | ARUP_COL4A5:NM_000495.3:c.638G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.646-12_646-11delTT | 1287 | COL4A5 | Pathogenic | 104886436 | RCV000021183; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821296 | 107821297 | NM_000495.4:c.646-12_646-11delTT | | NC_000023.10:g.107821296_107821297delTT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.646-3C>A | 1287 | COL4A5 | Pathogenic | 104886437 | RCV000021184; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821305 | 107821305 | NM_000495.4:c.646-3C>A | | NC_000023.10:g.107821305C>A | ARUP_COL4A5:NM_000495.3:c.646-3C>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.646G>A (p.Gly216Arg) | 1287 | COL4A5 | Pathogenic | 104886067 | RCV000021185; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821308 | 107821308 | NM_000495.4:c.646G>A | NP_000486.1:p.Gly216Arg | NC_000023.10:g.107821308G>A | ARUP_COL4A5:NM_000495.3:c.646G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.647G>T (p.Gly216Val) | 1287 | COL4A5 | Pathogenic | 104886074 | RCV000021186; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821309 | 107821309 | NM_000495.4:c.647G>T | NP_000486.1:p.Gly216Val | NC_000023.10:g.107821309G>T | ARUP_COL4A5:NM_000495.3:c.647G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.647_648dupGG (p.Asn217Glyfs) | 1287 | COL4A5 | Pathogenic | 104886438 | RCV000021187; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821309 | 107821310 | NM_000495.4:c.647_648dupGG | NP_000486.1:p.Asn217Glyfs | NC_000023.10:g.107821309_107821310dupGG,NC_000023.10:g.107821310dupG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.648dupG (p.Asn217Glufs) | 1287 | COL4A5 | Pathogenic | 104886438 | RCV000021188; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821310 | 107821310 | NM_000495.4:c.648dupG | NP_000486.1:p.Asn217Glufs | NC_000023.10:g.107821309_107821310dupGG,NC_000023.10:g.107821310dupG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.655G>A (p.Gly219Ser) | 1287 | COL4A5 | Pathogenic | 104886075 | RCV000021189; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821317 | 107821317 | NM_000495.4:c.655G>A | NP_000486.1:p.Gly219Ser | NC_000023.10:g.107821317G>A | ARUP_COL4A5:NM_000495.3:c.655G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.665T>G (p.Phe222Cys) | 1287 | COL4A5 | Pathogenic | 281874761 | RCV000032053; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821327 | 107821327 | NM_000495.4:c.665T>G | NP_000486.1:p.Phe222Cys | NC_000023.10:g.107821327T>G | ARUP_COL4A5:NM_000495.3:c.665T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.682G>T (p.Glu228Ter) | 1287 | COL4A5 | Pathogenic | 281874762 | RCV000032054; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821344 | 107821344 | NM_000495.4:c.682G>T | NP_000486.1:p.Glu228Ter | NC_000023.10:g.107821344G>T | ARUP_COL4A5:NM_000495.3:c.682G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.687+1G>A | 1287 | COL4A5 | Pathogenic | 104886440 | RCV000021190; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821350 | 107821350 | NM_000495.4:c.687+1G>A | | NC_000023.10:g.107821350G>A | ARUP_COL4A5:NM_000495.3:c.687+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.688-3C>G | 1287 | COL4A5 | Pathogenic | 104886441 | RCV000021191; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821518 | 107821518 | NM_000495.4:c.688-3C>G | | NC_000023.10:g.107821518C>G | ARUP_COL4A5:NM_000495.3:c.688-3C>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.688G>C (p.Gly230Arg) | 1287 | COL4A5 | Pathogenic | 104886076 | RCV000021192; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821521 | 107821521 | NM_000495.4:c.688G>C | NP_000486.1:p.Gly230Arg | NC_000023.10:g.107821521G>C | ARUP_COL4A5:NM_000495.3:c.688G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.689delG (p.Gly230Valfs) | 1287 | COL4A5 | Pathogenic | 104886077 | RCV000021193; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821522 | 107821522 | NM_000495.4:c.689delG | NP_000486.1:p.Gly230Valfs | NC_000023.10:g.107821522delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.689G>A (p.Gly230Asp) | 1287 | COL4A5 | Pathogenic | 281874763 | RCV000021194; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821522 | 107821522 | NM_000495.4:c.689G>A | NP_000486.1:p.Gly230Asp | NC_000023.10:g.107821522G>A | ARUP_COL4A5:NM_000495.3:c.689G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.716G>A (p.Gly239Glu) | 1287 | COL4A5 | Pathogenic | 104886068 | RCV000021195; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821549 | 107821549 | NM_000495.4:c.716G>A | NP_000486.1:p.Gly239Glu | NC_000023.10:g.107821549G>A | ARUP_COL4A5:NM_000495.3:c.716G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.761_762delAG (p.Glu254Valfs) | 1287 | COL4A5 | Pathogenic | 104886443 | RCV000021196; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821594 | 107821595 | NM_000495.4:c.761_762delAG | NP_000486.1:p.Glu254Valfs | NC_000023.10:g.107821594_107821595delAG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.780+2T>G | 1287 | COL4A5 | Pathogenic | 104886444 | RCV000021197; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107821615 | 107821615 | NM_000495.4:c.780+2T>G | | NC_000023.10:g.107821615T>G | ARUP_COL4A5:NM_000495.3:c.780+2T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.3(COL4A5):c.781-1_786delGGGACTT (p.?) | 1287 | COL4A5 | Pathogenic | 104886445 | RCV000021198; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823762 | 107823768 | NM_033380.2:c.781-1_786del | NP_203699.1:p.? | NC_000023.10:g.107823762_107823768delGGGACTT | ARUP_COL4A5:NM_000495.3:c.781-1del7,COL4A5 homepage - Collagen, type IV, alpha: COL4A5_00224 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.788delC (p.Pro263Leufs) | 1287 | COL4A5 | Pathogenic | 281874764 | RCV000032055; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823770 | 107823770 | NM_000495.4:c.788delC | NP_000486.1:p.Pro263Leufs | NC_000023.10:g.107823770delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.790G>C (p.Gly264Arg) | 1287 | COL4A5 | Pathogenic | 104886069 | RCV000021201; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823772 | 107823772 | NM_000495.4:c.790G>C | NP_000486.1:p.Gly264Arg | NC_000023.10:g.107823772G>C | ARUP_COL4A5:NM_000495.3:c.790G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.791G>A (p.Gly264Asp) | 1287 | COL4A5 | Pathogenic | 104886070 | RCV000021202; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823773 | 107823773 | NM_000495.4:c.791G>A | NP_000486.1:p.Gly264Asp | NC_000023.10:g.107823773G>A | ARUP_COL4A5:NM_000495.3:c.791G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.796C>T (p.Arg266Ter) | 1287 | COL4A5 | Pathogenic | 104886071 | RCV000021203; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823778 | 107823778 | NM_000495.4:c.796C>T | NP_000486.1:p.Arg266Ter | NC_000023.10:g.107823778C>T | ARUP_COL4A5:NM_000495.3:c.796C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.812delC (p.Pro271Leufs) | 1287 | COL4A5 | Pathogenic | 104886072 | RCV000021204; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823794 | 107823794 | NM_000495.4:c.812delC | NP_000486.1:p.Pro271Leufs | NC_000023.10:g.107823794delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.834+1G>A | 1287 | COL4A5 | Pathogenic | 104886446 | RCV000021205; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823817 | 107823817 | NM_000495.4:c.834+1G>A | | NC_000023.10:g.107823817G>A | ARUP_COL4A5:NM_000495.3:c.834+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.834+5G>T | 1287 | COL4A5 | Pathogenic | 104886442 | RCV000021206; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823821 | 107823821 | NM_000495.4:c.834+5G>T | | NC_000023.10:g.107823821G>T | ARUP_COL4A5:NM_000495.3:c.834+5G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.859G>T (p.Glu287Ter) | 1287 | COL4A5 | Pathogenic | 104886447 | RCV000021207; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823936 | 107823936 | NM_000495.4:c.859G>T | NP_000486.1:p.Glu287Ter | NC_000023.10:g.107823936G>T | ARUP_COL4A5:NM_000495.3:c.859G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.866G>T (p.Gly289Val) | 1287 | COL4A5 | Pathogenic | 104886450 | RCV000011210; RCV000021208; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823943 | 107823943 | NM_000495.4:c.866G>T | NP_000486.1:p.Gly289Val | NC_000023.10:g.107823943G>T | ARUP_COL4A5:NM_000495.3:c.866G>T,OMIM Allelic Variant:303630.0012 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.866G>T (p.Gly289Val) | 1287 | COL4A5 | Pathogenic | 104886450 | RCV000011210; RCV000021208; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823943 | 107823943 | NM_000495.4:c.866G>T | NP_000486.1:p.Gly289Val | NC_000023.10:g.107823943G>T | ARUP_COL4A5:NM_000495.3:c.866G>T,OMIM Allelic Variant:303630.0012 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.866delG (p.Gly289Valfs) | 1287 | COL4A5 | Pathogenic | 281874766 | RCV000021209; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823943 | 107823943 | NM_000495.4:c.866delG | NP_000486.1:p.Gly289Valfs | NC_000023.10:g.107823943delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.873delA (p.Gly292Glufs) | 1287 | COL4A5 | Pathogenic | 281874767 | RCV000021210; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823950 | 107823950 | NM_000495.4:c.873delA | NP_000486.1:p.Gly292Glufs | NC_000023.10:g.107823950delA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.874G>C (p.Gly292Arg) | 1287 | COL4A5 | Pathogenic | 104886073 | RCV000021211; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823951 | 107823951 | NM_000495.4:c.874G>C | NP_000486.1:p.Gly292Arg | NC_000023.10:g.107823951G>C | ARUP_COL4A5:NM_000495.3:c.874G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.875G>T (p.Gly292Val) | 1287 | COL4A5 | Pathogenic | 104886078 | RCV000021212; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823952 | 107823952 | NM_000495.4:c.875G>T | NP_000486.1:p.Gly292Val | NC_000023.10:g.107823952G>T | ARUP_COL4A5:NM_000495.3:c.875G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.875delG (p.Gly292Glufs) | 1287 | COL4A5 | Pathogenic | 281874768 | RCV000021213; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823952 | 107823952 | NM_000495.4:c.875delG | NP_000486.1:p.Gly292Glufs | NC_000023.10:g.107823952delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.884G>A (p.Gly295Asp) | 1287 | COL4A5 | Pathogenic | 104886079 | RCV000021214; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823961 | 107823961 | NM_000495.4:c.884G>A | NP_000486.1:p.Gly295Asp | NC_000023.10:g.107823961G>A | ARUP_COL4A5:NM_000495.3:c.884G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.891+1G>A | 1287 | COL4A5 | Pathogenic | 104886451 | RCV000021215; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107823969 | 107823969 | NM_000495.4:c.891+1G>A | | NC_000023.10:g.107823969G>A | ARUP_COL4A5:NM_000495.3:c.891+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.892-2A>G | 1287 | COL4A5 | Pathogenic | 104886453 | RCV000021216; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107824211 | 107824211 | NM_000495.4:c.892-2A>G | | NC_000023.10:g.107824211A>G | ARUP_COL4A5:NM_000495.3:c.892-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.892-1G>C | 1287 | COL4A5 | Pathogenic | 104886452 | RCV000021217; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107824212 | 107824212 | NM_000495.4:c.892-1G>C | | NC_000023.10:g.107824212G>C | ARUP_COL4A5:NM_000495.3:c.892-1G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.892G>A (p.Gly298Ser) | 1287 | COL4A5 | Pathogenic | 104886080 | RCV000021218; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107824213 | 107824213 | NM_000495.4:c.892G>A | NP_000486.1:p.Gly298Ser | NC_000023.10:g.107824213G>A | ARUP_COL4A5:NM_000495.3:c.892G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.913G>T (p.Glu305Ter) | 1287 | COL4A5 | Pathogenic | 104886081 | RCV000021219; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107824234 | 107824234 | NM_000495.4:c.913G>T | NP_000486.1:p.Glu305Ter | NC_000023.10:g.107824234G>T | ARUP_COL4A5:NM_000495.3:c.913G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.920G>A (p.Gly307Asp) | 1287 | COL4A5 | Pathogenic | 104886082 | RCV000021220; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107824241 | 107824241 | NM_000495.4:c.920G>A | NP_000486.1:p.Gly307Asp | NC_000023.10:g.107824241G>A | ARUP_COL4A5:NM_000495.3:c.920G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.928G>A (p.Gly310Arg) | 1287 | COL4A5 | Pathogenic | 104886083 | RCV000021221; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107824249 | 107824249 | NM_000495.4:c.928G>A | NP_000486.1:p.Gly310Arg | NC_000023.10:g.107824249G>A | ARUP_COL4A5:NM_000495.3:c.928G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.937-1G>A | 1287 | COL4A5 | Pathogenic | 104886448 | RCV000021222; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826113 | 107826113 | NM_000495.4:c.937-1G>A | | NC_000023.10:g.107826113G>A | ARUP_COL4A5:NM_000495.3:c.937-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.937-?_990+?del (p.Gly313_Lys330del) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021223; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826114 | 107826167 | NM_000495.4:c.(?_937)_(990_?)del | NP_000486.1:p.(?) | | dbVar:nssv7487019,dbVar:nsv1197491 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.937G>A (p.Gly313Ser) | 1287 | COL4A5 | Pathogenic | 104886084 | RCV000021224; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826114 | 107826114 | NM_000495.4:c.937G>A | NP_000486.1:p.Gly313Ser | NC_000023.10:g.107826114G>A | ARUP_COL4A5:NM_000495.3:c.937G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.945dupT (p.Gly316Trpfs) | 1287 | COL4A5 | Pathogenic | 104886449 | RCV000021225; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826122 | 107826122 | NM_000495.4:c.945dupT | NP_000486.1:p.Gly316Trpfs | NC_000023.10:g.107826122dupT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.955G>C (p.Gly319Arg) | 1287 | COL4A5 | Pathogenic | 104886085 | RCV000021226; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826132 | 107826132 | NM_000495.4:c.955G>C | NP_000486.1:p.Gly319Arg | NC_000023.10:g.107826132G>C | ARUP_COL4A5:NM_000495.3:c.955G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.956G>A (p.Gly319Asp) | 1287 | COL4A5 | Pathogenic | 104886086 | RCV000021227; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826133 | 107826133 | NM_000495.4:c.956G>A | NP_000486.1:p.Gly319Asp | NC_000023.10:g.107826133G>A | ARUP_COL4A5:NM_000495.3:c.956G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.960C>A (p.Tyr320Ter) | 1287 | COL4A5 | Pathogenic | 281874769 | RCV000021228; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826137 | 107826137 | NM_000495.4:c.960C>A | NP_000486.1:p.Tyr320Ter | NC_000023.10:g.107826137C>A | ARUP_COL4A5:NM_000495.3:c.960C>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.970C>T (p.Pro324Ser) | 1287 | COL4A5 | Benign | 104886087 | RCV000021229; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826147 | 107826147 | NM_000495.4:c.970C>T | NP_000486.1:p.Pro324Ser | NC_000023.10:g.107826147C>T | ARUP_COL4A5:NM_000495.3:c.970C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.973G>A (p.Gly325Arg) | 1287 | COL4A5 | Pathogenic | 104886088 | RCV000011205; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826150 | 107826150 | NM_000495.4:c.973G>A | NP_000486.1:p.Gly325Arg | NC_000023.10:g.107826150G>A,NC_000023.10:g.107826150G>T | ARUP_COL4A5:NM_000495.3:c.973G>A,OMIM Allelic Variant:303630.0007 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.973G>T (p.Gly325Ter) | 1287 | COL4A5 | Pathogenic | 104886088 | RCV000021231; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826150 | 107826150 | NM_000495.4:c.973G>T | NP_000486.1:p.Gly325Ter | NC_000023.10:g.107826150G>A,NC_000023.10:g.107826150G>T | ARUP_COL4A5:NM_000495.3:c.973G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.974G>A (p.Gly325Glu) | 1287 | COL4A5 | Pathogenic | 104886091 | RCV000011209; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107826151 | 107826151 | NM_000495.4:c.974G>A | NP_000486.1:p.Gly325Glu | NC_000023.10:g.107826151G>A | ARUP_COL4A5:NM_000495.3:c.974G>A,OMIM Allelic Variant:303630.0011 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.992G>T (p.Gly331Val) | 1287 | COL4A5 | Pathogenic | 104886092 | RCV000021233; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107827715 | 107827715 | NM_000495.4:c.992G>T | NP_000486.1:p.Gly331Val | NC_000023.10:g.107827715G>T | ARUP_COL4A5:NM_000495.3:c.992G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1001G>T (p.Gly334Val) | 1287 | COL4A5 | Pathogenic | 104886093 | RCV000021234; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107827724 | 107827724 | NM_000495.4:c.1001G>T | NP_000486.1:p.Gly334Val | NC_000023.10:g.107827724G>T | ARUP_COL4A5:NM_000495.3:c.1001G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.1010G>T (p.Gly337Val) | 1287 | COL4A5 | Pathogenic | 869025334 | RCV000207794; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107827733 | 107827733 | NM_033380.2:c.1010G>T | NP_203699.1:p.Gly337Val | NC_000023.10:g.107827733G>T | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1032+3_1032+6delAAGT | 1287 | COL4A5 | Pathogenic | 104886314 | RCV000021235; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107827758 | 107827761 | NM_000495.4:c.1032+3_1032+6delAAGT | | NC_000023.10:g.107827758_107827761delAAGT | ARUP_COL4A5:NM_000495.3:c.1032+3_1032+6delAAGT | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1032+5G>T | 1287 | COL4A5 | Pathogenic | 104886315 | RCV000021236; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107827760 | 107827760 | NM_000495.4:c.1032+5G>T | | NC_000023.10:g.107827760G>T | ARUP_COL4A5:NM_000495.3:c.1032+5G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1033-15delT | 1287 | COL4A5 | Benign | 104886089 | RCV000021237; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829830 | 107829830 | NM_000495.4:c.1033-15delT | | NC_000023.10:g.107829830delT | ARUP_COL4A5:NM_000495.3:c.1033-15delT | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.1033-6A>G | 1287 | COL4A5 | Likely pathogenic | 869025330 | RCV000207933; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829839 | 107829839 | NM_033380.2:c.1033-6A>G | | NC_000023.10:g.107829839A>G | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1060dupA (p.Thr354Asnfs) | 1287 | COL4A5 | Pathogenic | 281874655 | RCV000021239; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829872 | 107829872 | NM_000495.4:c.1060dupA | NP_000486.1:p.Thr354Asnfs | NC_000023.10:g.107829872dupA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1062dupT (p.Ile355Tyrfs) | 1287 | COL4A5 | Pathogenic | 104886316 | RCV000021240; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829874 | 107829874 | NM_000495.4:c.1062dupT | NP_000486.1:p.Ile355Tyrfs | NC_000023.10:g.107829874dupT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1074delA (p.Gly359Glufs) | 1287 | COL4A5 | Pathogenic | 104886095 | RCV000021241; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829886 | 107829886 | NM_000495.4:c.1074delA | NP_000486.1:p.Gly359Glufs | NC_000023.10:g.107829886delA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1084G>A (p.Gly362Arg) | 1287 | COL4A5 | Pathogenic | 281874656 | RCV000021242; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829896 | 107829896 | NM_000495.4:c.1084G>A | NP_000486.1:p.Gly362Arg | NC_000023.10:g.107829896G>A | ARUP_COL4A5:NM_000495.3:c.1084G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1094G>A (p.Gly365Glu) | 1287 | COL4A5 | Pathogenic | 104886096 | RCV000021243; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829906 | 107829906 | NM_000495.4:c.1094G>A | NP_000486.1:p.Gly365Glu | NC_000023.10:g.107829906G>A | ARUP_COL4A5:NM_000495.3:c.1094G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1095G>C (p.Gly365=) | 1287 | COL4A5 | Benign | 2272945 | RCV000021244; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829907 | 107829907 | NM_000495.4:c.1095G>C | NP_000486.1:p.Gly365= | NC_000023.10:g.107829907G>C | ARUP_COL4A5:NM_000495.3:c.1095G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1112G>A (p.Gly371Glu) | 1287 | COL4A5 | Pathogenic | 104886097 | RCV000021245; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829924 | 107829924 | NM_000495.4:c.1112G>A | NP_000486.1:p.Gly371Glu | NC_000023.10:g.107829924G>A | ARUP_COL4A5:NM_000495.3:c.1112G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1117C>T (p.Arg373Ter) | 1287 | COL4A5 | Pathogenic | 104886094 | RCV000021246; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829929 | 107829929 | NM_000495.4:c.1117C>T | NP_000486.1:p.Arg373Ter | NC_000023.10:g.107829929C>T | ARUP_COL4A5:NM_000495.3:c.1117C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1121G>C (p.Gly374Ala) | 1287 | COL4A5 | Pathogenic | 104886108 | RCV000021247; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829933 | 107829933 | NM_000495.4:c.1121G>C | NP_000486.1:p.Gly374Ala | NC_000023.10:g.107829933G>C | ARUP_COL4A5:NM_000495.3:c.1121G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1135C>T (p.Gln379Ter) | 1287 | COL4A5 | Pathogenic | 281874657 | RCV000032056; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829947 | 107829947 | NM_000495.4:c.1135C>T | NP_000486.1:p.Gln379Ter | NC_000023.10:g.107829947C>T | ARUP_COL4A5:NM_000495.3:c.1135C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1139G>A (p.Gly380Asp) | 1287 | COL4A5 | Pathogenic | 104886098 | RCV000021248; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829951 | 107829951 | NM_000495.4:c.1139G>A | NP_000486.1:p.Gly380Asp | NC_000023.10:g.107829951G>A | ARUP_COL4A5:NM_000495.3:c.1139G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1148G>A (p.Gly383Asp) | 1287 | COL4A5 | Pathogenic | 104886105 | RCV000021249; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829960 | 107829960 | NM_000495.4:c.1148G>A | NP_000486.1:p.Gly383Asp | NC_000023.10:g.107829960G>A | ARUP_COL4A5:NM_000495.3:c.1148G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1165+1G>A | 1287 | COL4A5 | Pathogenic | 104886317 | RCV000021250; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829978 | 107829978 | NM_000495.4:c.1165+1G>A | | NC_000023.10:g.107829978G>A | ARUP_COL4A5:NM_000495.3:c.1165+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1165+2T>G | 1287 | COL4A5 | Pathogenic | 104886324 | RCV000021251; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107829979 | 107829979 | NM_000495.4:c.1165+2T>G | | NC_000023.10:g.107829979T>G | ARUP_COL4A5:NM_000495.3:c.1165+2T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1181delG (p.Gly394Valfs) | 1287 | COL4A5 | Pathogenic | 281874658 | RCV000021255; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834303 | 107834303 | NM_000495.4:c.1181delG | NP_000486.1:p.Gly394Valfs | NC_000023.10:g.107834303delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1191C>G (p.Gly397=) | 1287 | COL4A5 | Benign | 104886106 | RCV000021256; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834313 | 107834313 | NM_000495.4:c.1191C>G | NP_000486.1:p.Gly397= | NC_000023.10:g.107834313C>G | ARUP_COL4A5:NM_000495.3:c.1191C>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1199G>A (p.Gly400Glu) | 1287 | COL4A5 | Pathogenic | 104886107 | RCV000021257; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834321 | 107834321 | NM_000495.4:c.1199G>A | NP_000486.1:p.Gly400Glu | NC_000023.10:g.107834321G>A | ARUP_COL4A5:NM_000495.3:c.1199G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1208G>T (p.Gly403Val) | 1287 | COL4A5 | Pathogenic | 104886099 | RCV000021258; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834330 | 107834330 | NM_000495.4:c.1208G>T | NP_000486.1:p.Gly403Val | NC_000023.10:g.107834330G>T | ARUP_COL4A5:NM_000495.3:c.1208G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1213dupA (p.Arg405Lysfs) | 1287 | COL4A5 | Pathogenic | 281874659 | RCV000021259; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834335 | 107834335 | NM_000495.4:c.1213dupA | NP_000486.1:p.Arg405Lysfs | NC_000023.10:g.107834335dupA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1214_1215insA (p.Gln407Serfs) | 1287 | COL4A5 | Pathogenic | 104886325 | RCV000021260; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834336 | 107834337 | NM_000495.4:c.1214_1215insA | NP_000486.1:p.Gln407Serfs | NC_000023.10:g.107834336_107834337insA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1216G>A (p.Gly406Ser) | 1287 | COL4A5 | Pathogenic | 281874660 | RCV000032057; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834338 | 107834338 | NM_000495.4:c.1216G>A | NP_000486.1:p.Gly406Ser | NC_000023.10:g.107834338G>A | ARUP_COL4A5:NM_000495.3:c.1216G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1217G>T (p.Gly406Val) | 1287 | COL4A5 | Pathogenic | 104886100 | RCV000021262; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834339 | 107834339 | NM_000495.4:c.1217G>T | NP_000486.1:p.Gly406Val | NC_000023.10:g.107834339G>T | ARUP_COL4A5:NM_000495.3:c.1217G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1219C>T (p.Gln407Ter) | 1287 | COL4A5 | Pathogenic | 281874661 | RCV000021263; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834341 | 107834341 | NM_000495.4:c.1219C>T | NP_000486.1:p.Gln407Ter | NC_000023.10:g.107834341C>T | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1222A>T (p.Lys408Ter) | 1287 | COL4A5 | Pathogenic | 281874662 | RCV000021264; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834344 | 107834344 | NM_000495.4:c.1222A>T | NP_000486.1:p.Lys408Ter | NC_000023.10:g.107834344A>T | ARUP_COL4A5:NM_000495.3:c.1222A>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1226G>A (p.Gly409Asp) | 1287 | COL4A5 | Pathogenic | 104886101 | RCV000021265; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834348 | 107834348 | NM_000495.4:c.1226G>A | NP_000486.1:p.Gly409Asp | NC_000023.10:g.107834348G>A | ARUP_COL4A5:NM_000495.3:c.1226G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1235G>T (p.Gly412Val) | 1287 | COL4A5 | Pathogenic | 104886102 | RCV000021266; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834357 | 107834357 | NM_000495.4:c.1235G>T | NP_000486.1:p.Gly412Val | NC_000023.10:g.107834357G>T | ARUP_COL4A5:NM_000495.3:c.1235G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1243G>A (p.Gly415Arg) | 1287 | COL4A5 | Pathogenic | 104886103 | RCV000021267; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834365 | 107834365 | NM_000495.4:c.1243G>A | NP_000486.1:p.Gly415Arg | NC_000023.10:g.107834365G>A | ARUP_COL4A5:NM_000495.3:c.1243G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1254delT (p.Pro419Leufs) | 1287 | COL4A5 | Pathogenic | 104886104 | RCV000021268; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834376 | 107834376 | NM_000495.4:c.1254delT | NP_000486.1:p.Pro419Leufs | NC_000023.10:g.107834376delT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1259G>A (p.Gly420Glu) | 1287 | COL4A5 | Pathogenic | 281874663 | RCV000021269; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834381 | 107834381 | NM_000495.4:c.1259G>A | NP_000486.1:p.Gly420Glu | NC_000023.10:g.107834381G>A | ARUP_COL4A5:NM_000495.3:c.1259G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1265delC (p.Pro422Leufs) | 1287 | COL4A5 | Pathogenic | 104886109 | RCV000021270; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834387 | 107834387 | NM_000495.4:c.1265delC | NP_000486.1:p.Pro422Leufs | NC_000023.10:g.107834387delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1268G>A (p.Gly423Glu) | 1287 | COL4A5 | Pathogenic | 104886110 | RCV000021271; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834390 | 107834390 | NM_000495.4:c.1268G>A | NP_000486.1:p.Gly423Glu | NC_000023.10:g.107834390G>A | ARUP_COL4A5:NM_000495.3:c.1268G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1276G>A (p.Gly426Arg) | 1287 | COL4A5 | Pathogenic | 104886111 | RCV000021272; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834398 | 107834398 | NM_000495.4:c.1276G>A | NP_000486.1:p.Gly426Arg | NC_000023.10:g.107834398G>A | ARUP_COL4A5:NM_000495.3:c.1276G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1280dupA (p.Pro428Alafs) | 1287 | COL4A5 | Pathogenic | 104886327 | RCV000021273; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834402 | 107834402 | NM_000495.4:c.1280dupA | NP_000486.1:p.Pro428Alafs | NC_000023.10:g.107834402dupA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1286G>A (p.Gly429Glu) | 1287 | COL4A5 | Pathogenic | 104886112 | RCV000021274; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834408 | 107834408 | NM_000495.4:c.1286G>A | NP_000486.1:p.Gly429Glu | NC_000023.10:g.107834408G>A | ARUP_COL4A5:NM_000495.3:c.1286G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1294G>A (p.Gly432Arg) | 1287 | COL4A5 | Pathogenic | 281874664 | RCV000021276; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834416 | 107834416 | NM_000495.4:c.1294G>A | NP_000486.1:p.Gly432Arg | NC_000023.10:g.107834416G>A | ARUP_COL4A5:NM_000495.3:c.1294G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1331T>G (p.Ile444Ser) | 1287 | COL4A5 | Benign | 2272946 | RCV000021277; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834453 | 107834453 | NM_000495.4:c.1331T>G | NP_000486.1:p.Ile444Ser | NC_000023.10:g.107834453T>G | ARUP_COL4A5:NM_000495.3:c.1331T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1340-2A>G | 1287 | COL4A5 | Pathogenic | 104886319 | RCV000021278; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834789 | 107834789 | NM_000495.4:c.1340-2A>G | | NC_000023.10:g.107834789A>G | ARUP_COL4A5:NM_000495.3:c.1340-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1350_1351delAT (p.Ile450Metfs) | 1287 | COL4A5 | Pathogenic | 104886320 | RCV000021279; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834801 | 107834802 | NM_000495.4:c.1350_1351delAT | NP_000486.1:p.Ile450Metfs | NC_000023.10:g.107834801_107834802delAT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1371_1379delCCCCCCAGG (p.Pro458_Gly460del) | 1287 | COL4A5 | Pathogenic | 104886321 | RCV000021282; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834822 | 107834830 | NM_000495.4:c.1371_1379delCCCCCCAGG | NP_000486.1:p.Pro458_Gly460del | NC_000023.10:g.107834822_107834830delCCCCCCAGG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1376delC (p.Pro459Glnfs) | 1287 | COL4A5 | Pathogenic | 104886113 | RCV000021283; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834827 | 107834827 | NM_000495.4:c.1376delC | NP_000486.1:p.Pro459Glnfs | NC_000023.10:g.107834827delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1376dupC (p.Gly460Argfs) | 1287 | COL4A5 | Pathogenic | 281874666 | RCV000021284; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834827 | 107834827 | NM_000495.4:c.1376dupC | NP_000486.1:p.Gly460Argfs | NC_000023.10:g.107834827dupC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1397G>A (p.Gly466Glu) | 1287 | COL4A5 | Pathogenic | 104886114 | RCV000021285; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834848 | 107834848 | NM_000495.4:c.1397G>A | NP_000486.1:p.Gly466Glu | NC_000023.10:g.107834848G>A | ARUP_COL4A5:NM_000495.3:c.1397G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1406G>A (p.Gly469Glu) | 1287 | COL4A5 | Pathogenic | 104886115 | RCV000021286; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834857 | 107834857 | NM_000495.4:c.1406G>A | NP_000486.1:p.Gly469Glu | NC_000023.10:g.107834857G>A | ARUP_COL4A5:NM_000495.3:c.1406G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1414G>A (p.Gly472Arg) | 1287 | COL4A5 | Pathogenic | 104886116 | RCV000021287; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834865 | 107834865 | NM_000495.4:c.1414G>A | NP_000486.1:p.Gly472Arg | NC_000023.10:g.107834865G>A | ARUP_COL4A5:NM_000495.3:c.1414G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1423G>A (p.Gly475Ser) | 1287 | COL4A5 | Pathogenic | 281874667 | RCV000021288; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834874 | 107834874 | NM_000495.4:c.1423G>A | NP_000486.1:p.Gly475Ser | NC_000023.10:g.107834874G>A | ARUP_COL4A5:NM_000495.3:c.1423G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1423+1G>A | 1287 | COL4A5 | Pathogenic | 104886312 | RCV000021289; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107834875 | 107834875 | NM_000495.4:c.1423+1G>A | | NC_000023.10:g.107834875G>A | ARUP_COL4A5:NM_000495.3:c.1423+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1424-20T>A | 1287 | COL4A5 | Pathogenic | 281874668 | RCV000021291; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107838719 | 107838719 | NM_000495.4:c.1424-20T>A | | NC_000023.10:g.107838719T>A | ARUP_COL4A5:NM_000495.3:c.1424-20T>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1424-1G>A | 1287 | COL4A5 | Pathogenic | 104886329 | RCV000021292; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107838738 | 107838738 | NM_000495.4:c.1424-1G>A | | NC_000023.10:g.107838738G>A | ARUP_COL4A5:NM_000495.3:c.1424-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1472G>A (p.Gly491Glu) | 1287 | COL4A5 | Pathogenic | 104886117 | RCV000021294; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107838787 | 107838787 | NM_000495.4:c.1472G>A | NP_000486.1:p.Gly491Glu | NC_000023.10:g.107838787G>A | ARUP_COL4A5:NM_000495.3:c.1472G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1481G>A (p.Gly494Asp) | 1287 | COL4A5 | Pathogenic | 104886118 | RCV000021295; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107838796 | 107838796 | NM_000495.4:c.1481G>A | NP_000486.1:p.Gly494Asp | NC_000023.10:g.107838796G>A | ARUP_COL4A5:NM_000495.3:c.1481G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1489G>T (p.Gly497Cys) | 1287 | COL4A5 | Pathogenic | 104886120 | RCV000021297; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107838804 | 107838804 | NM_000495.4:c.1489G>T | NP_000486.1:p.Gly497Cys | NC_000023.10:g.107838804G>T | ARUP_COL4A5:NM_000495.3:c.1489G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1498G>C (p.Gly500Arg) | 1287 | COL4A5 | Pathogenic | 281874670 | RCV000021298; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107838813 | 107838813 | NM_000495.4:c.1498G>C | NP_000486.1:p.Gly500Arg | NC_000023.10:g.107838813G>C | ARUP_COL4A5:NM_000495.3:c.1498G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1516+1G>A | 1287 | COL4A5 | Pathogenic | 104886331 | RCV000021299; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107838832 | 107838832 | NM_000495.4:c.1516+1G>A | | NC_000023.10:g.107838832G>A | ARUP_COL4A5:NM_000495.3:c.1516+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1517-1G>T | 1287 | COL4A5 | Pathogenic | 104886332 | RCV000021300; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840227 | 107840227 | NM_000495.4:c.1517-1G>T | | NC_000023.10:g.107840227G>T | ARUP_COL4A5:NM_000495.3:c.1517-1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1542_1543delAG (p.Glu516Lysfs) | 1287 | COL4A5 | Pathogenic | 104886333 | RCV000021084; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840253 | 107840254 | NM_000495.4:c.1542_1543delAG | NP_000486.1:p.Glu516Lysfs | NC_000023.10:g.107840253_107840254delAG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1561G>T (p.Gly521Cys) | 1287 | COL4A5 | Pathogenic | 104886121 | RCV000011208; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840272 | 107840272 | NM_000495.4:c.1561G>T | NP_000486.1:p.Gly521Cys | NC_000023.10:g.107840272G>T | ARUP_COL4A5:NM_000495.3:c.1561G>T,OMIM Allelic Variant:303630.0010 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1562G>A (p.Gly521Asp) | 1287 | COL4A5 | Pathogenic | 104886122 | RCV000021301; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840273 | 107840273 | NM_000495.4:c.1562G>A | NP_000486.1:p.Gly521Asp | NC_000023.10:g.107840273G>A | ARUP_COL4A5:NM_000495.3:c.1562G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1566delA (p.Thr523Leufs) | 1287 | COL4A5 | Pathogenic | 104886123 | RCV000021302; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840277 | 107840277 | NM_000495.4:c.1566delA | NP_000486.1:p.Thr523Leufs | NC_000023.10:g.107840277delA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1571G>A (p.Gly524Asp) | 1287 | COL4A5 | Pathogenic | 104886119 | RCV000021303; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840282 | 107840282 | NM_000495.4:c.1571G>A | NP_000486.1:p.Gly524Asp | NC_000023.10:g.107840282G>A | ARUP_COL4A5:NM_000495.3:c.1571G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NC_000023.10:g.107840292_107840615del324 | 1287 | COL4A5 | Pathogenic | -1 | RCV000021304; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840292 | 107840615 | - | - | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1587+1delG | 1287 | COL4A5 | Pathogenic | 104886124 | RCV000021305; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840299 | 107840299 | NM_000495.4:c.1587+1delG | | NC_000023.10:g.107840299delG | ARUP_COL4A5:NM_000495.3:c.1587+1delG | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1587+1G>A | 1287 | COL4A5 | Pathogenic | 104886313 | RCV000021306; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840299 | 107840299 | NM_000495.4:c.1587+1G>A | | NC_000023.10:g.107840299G>A | ARUP_COL4A5:NM_000495.3:c.1587+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1589G>A (p.Gly530Asp) | 1287 | COL4A5 | Pathogenic | 281874671 | RCV000032058; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840608 | 107840608 | NM_000495.4:c.1589G>A | NP_000486.1:p.Gly530Asp | NC_000023.10:g.107840608G>A | ARUP_COL4A5:NM_000495.3:c.1589G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1598G>A (p.Gly533Glu) | 1287 | COL4A5 | Pathogenic | 281874672 | RCV000021307; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840617 | 107840617 | NM_000495.4:c.1598G>A | NP_000486.1:p.Gly533Glu | NC_000023.10:g.107840617G>A | ARUP_COL4A5:NM_000495.3:c.1598G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1607G>A (p.Gly536Asp) | 1287 | COL4A5 | Pathogenic | 104886125 | RCV000021308; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840626 | 107840626 | NM_000495.4:c.1607G>A | NP_000486.1:p.Gly536Asp | NC_000023.10:g.107840626G>A | ARUP_COL4A5:NM_000495.3:c.1607G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1633G>C (p.Gly545Arg) | 1287 | COL4A5 | Pathogenic | 104886126 | RCV000021309; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840652 | 107840652 | NM_000495.4:c.1633G>C | NP_000486.1:p.Gly545Arg | NC_000023.10:g.107840652G>C | ARUP_COL4A5:NM_000495.3:c.1633G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1634G>T (p.Gly545Val) | 1287 | COL4A5 | Pathogenic | 104886127 | RCV000021310; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840653 | 107840653 | NM_000495.4:c.1634G>T | NP_000486.1:p.Gly545Val | NC_000023.10:g.107840653G>T | ARUP_COL4A5:NM_000495.3:c.1634G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1643G>A (p.Gly548Asp) | 1287 | COL4A5 | Pathogenic | 281874673 | RCV000021311; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840662 | 107840662 | NM_000495.4:c.1643G>A | NP_000486.1:p.Gly548Asp | NC_000023.10:g.107840662G>A | ARUP_COL4A5:NM_000495.3:c.1643G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1653delC (p.Thr552Leufs) | 1287 | COL4A5 | Pathogenic | 104886128 | RCV000021312; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840672 | 107840672 | NM_000495.4:c.1653delC | NP_000486.1:p.Thr552Leufs | NC_000023.10:g.107840672delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1672G>C (p.Gly558Arg) | 1287 | COL4A5 | Pathogenic | 104886129 | RCV000021313; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840691 | 107840691 | NM_000495.4:c.1672G>C | NP_000486.1:p.Gly558Arg | NC_000023.10:g.107840691G>C | ARUP_COL4A5:NM_000495.3:c.1672G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1681G>A (p.Gly561Arg) | 1287 | COL4A5 | Pathogenic | 104886136 | RCV000021314; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840700 | 107840700 | NM_000495.4:c.1681G>A | NP_000486.1:p.Gly561Arg | NC_000023.10:g.107840700G>A | ARUP_COL4A5:NM_000495.3:c.1681G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1690G>T (p.Gly564Cys) | 1287 | COL4A5 | Pathogenic | 281874674 | RCV000021315; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840709 | 107840709 | NM_000495.4:c.1690G>T | NP_000486.1:p.Gly564Cys | NC_000023.10:g.107840709G>T | ARUP_COL4A5:NM_000495.3:c.1690G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1700G>C (p.Gly567Ala) | 1287 | COL4A5 | Pathogenic | 104886137 | RCV000021316; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840719 | 107840719 | NM_000495.4:c.1700G>C | NP_000486.1:p.Gly567Ala | NC_000023.10:g.107840719G>C | ARUP_COL4A5:NM_000495.3:c.1700G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1718G>A (p.Gly573Asp) | 1287 | COL4A5 | Pathogenic | 104886138 | RCV000021317; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840737 | 107840737 | NM_000495.4:c.1718G>A | NP_000486.1:p.Gly573Asp | NC_000023.10:g.107840737G>A | ARUP_COL4A5:NM_000495.3:c.1718G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1726G>A (p.Gly576Ser) | 1287 | COL4A5 | Pathogenic | 281874675 | RCV000021318; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840745 | 107840745 | NM_000495.4:c.1726G>A | NP_000486.1:p.Gly576Ser | NC_000023.10:g.107840745G>A | ARUP_COL4A5:NM_000495.3:c.1726G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1735G>A (p.Gly579Arg) | 1287 | COL4A5 | Pathogenic | 104886139 | RCV000021319; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840754 | 107840754 | NM_000495.4:c.1735G>A | NP_000486.1:p.Gly579Arg | NC_000023.10:g.107840754G>A | ARUP_COL4A5:NM_000495.3:c.1735G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1736G>A (p.Gly579Glu) | 1287 | COL4A5 | Pathogenic | 104886130 | RCV000021320; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840755 | 107840755 | NM_000495.4:c.1736G>A | NP_000486.1:p.Gly579Glu | NC_000023.10:g.107840755G>A | ARUP_COL4A5:NM_000495.3:c.1736G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1738C>T (p.Gln580Ter) | 1287 | COL4A5 | Pathogenic | 281874676 | RCV000021321; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840757 | 107840757 | NM_000495.4:c.1738C>T | NP_000486.1:p.Gln580Ter | NC_000023.10:g.107840757C>T | ARUP_COL4A5:NM_000495.3:c.1738C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1739_1948+98del | 1287 | COL4A5 | Pathogenic | 104886336 | RCV000021322; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840758 | 107842198 | NM_000495.4:c.1739_1948+98del | | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1744G>A (p.Gly582Arg) | 1287 | COL4A5 | Pathogenic | 281874677 | RCV000032059; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840763 | 107840763 | NM_000495.4:c.1744G>A | NP_000486.1:p.Gly582Arg | NC_000023.10:g.107840763G>A | ARUP_COL4A5:NM_000495.3:c.1744G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1757_1770delTTCCTGGCCCGAAA (p.Leu586Argfs) | 1287 | COL4A5 | Pathogenic | 281874678 | RCV000021323; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840776 | 107840789 | NM_000495.4:c.1757_1770delTTCCTGGCCCGAAA | NP_000486.1:p.Leu586Argfs | NC_000023.10:g.107840776_107840789delTTCCTGGCCCGAAA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1779+1G>T | 1287 | COL4A5 | Pathogenic | 104886337 | RCV000021324; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840799 | 107840799 | NM_000495.4:c.1779+1G>T | | NC_000023.10:g.107840799G>T | ARUP_COL4A5:NM_000495.3:c.1779+1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1779+3G>C | 1287 | COL4A5 | Pathogenic | 281874679 | RCV000021325; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107840801 | 107840801 | NM_000495.4:c.1779+3G>C | | NC_000023.10:g.107840801G>C | ARUP_COL4A5:NM_000495.3:c.1779+3G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1780-1G>A | 1287 | COL4A5 | Pathogenic | 104886338 | RCV000021326; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107841931 | 107841931 | NM_000495.4:c.1780-1G>A | | NC_000023.10:g.107841931G>A | ARUP_COL4A5:NM_000495.3:c.1780-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.1780-1G>T | 1287 | COL4A5 | Pathogenic | 104886338 | RCV000207547; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107841931 | 107841931 | NM_033380.2:c.1780-1G>T | | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1780G>A (p.Gly594Ser) | 1287 | COL4A5 | Pathogenic | 104886131 | RCV000021327; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107841932 | 107841932 | NM_000495.4:c.1780G>A | NP_000486.1:p.Gly594Ser | NC_000023.10:g.107841932G>A | ARUP_COL4A5:NM_000495.3:c.1780G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1783G>A (p.Gly595Arg) | 1287 | COL4A5 | Pathogenic | 104886132 | RCV000021328; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107841935 | 107841935 | NM_000495.4:c.1783G>A | NP_000486.1:p.Gly595Arg | NC_000023.10:g.107841935G>A | ARUP_COL4A5:NM_000495.3:c.1783G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1808G>T (p.Gly603Val) | 1287 | COL4A5 | Pathogenic | 104886133 | RCV000021329; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107841960 | 107841960 | NM_000495.4:c.1808G>T | NP_000486.1:p.Gly603Val | NC_000023.10:g.107841960G>T | ARUP_COL4A5:NM_000495.3:c.1808G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1825G>C (p.Gly609Arg) | 1287 | COL4A5 | Pathogenic | 104886135 | RCV000021330; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107841977 | 107841977 | NM_000495.4:c.1825G>C | NP_000486.1:p.Gly609Arg | NC_000023.10:g.107841977G>C | ARUP_COL4A5:NM_000495.3:c.1825G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1826G>T (p.Gly609Val) | 1287 | COL4A5 | Pathogenic | 104886140 | RCV000021331; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107841978 | 107841978 | NM_000495.4:c.1826G>T | NP_000486.1:p.Gly609Val | NC_000023.10:g.107841978G>T | ARUP_COL4A5:NM_000495.3:c.1826G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1835G>A (p.Gly612Asp) | 1287 | COL4A5 | Pathogenic | 281874680 | RCV000032060; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107841987 | 107841987 | NM_000495.4:c.1835G>A | NP_000486.1:p.Gly612Asp | NC_000023.10:g.107841987G>A | ARUP_COL4A5:NM_000495.3:c.1835G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1844G>A (p.Gly615Glu) | 1287 | COL4A5 | Pathogenic | 794727397 | RCV000176533; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107841996 | 107841996 | NM_000495.4:c.1844G>A | NP_000486.1:p.Gly615Glu | NC_000023.10:g.107841996G>A | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1856C>T (p.Pro619Leu) | 1287 | COL4A5 | Pathogenic | 281874681 | RCV000021332; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842008 | 107842008 | NM_000495.4:c.1856C>T | NP_000486.1:p.Pro619Leu | NC_000023.10:g.107842008C>T | ARUP_COL4A5:NM_000495.3:c.1856C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1861G>T (p.Gly621Cys) | 1287 | COL4A5 | Pathogenic | 104886141 | RCV000021333; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842013 | 107842013 | NM_000495.4:c.1861G>T | NP_000486.1:p.Gly621Cys | NC_000023.10:g.107842013G>T | ARUP_COL4A5:NM_000495.3:c.1861G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1871G>A (p.Gly624Asp) | 1287 | COL4A5 | Pathogenic | 104886142 | RCV000021334; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842023 | 107842023 | NM_000495.4:c.1871G>A | NP_000486.1:p.Gly624Asp | NC_000023.10:g.107842023G>A | ARUP_COL4A5:NM_000495.3:c.1871G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1877G>C (p.Gly626Ala) | 1287 | COL4A5 | Pathogenic | 104886143 | RCV000021335; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842029 | 107842029 | NM_000495.4:c.1877G>C | NP_000486.1:p.Gly626Ala | NC_000023.10:g.107842029G>C | ARUP_COL4A5:NM_000495.3:c.1877G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1883C>T (p.Pro628Leu) | 1287 | COL4A5 | Pathogenic | 281874682 | RCV000032061; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842035 | 107842035 | NM_000495.4:c.1883C>T | NP_000486.1:p.Pro628Leu | NC_000023.10:g.107842035C>T | ARUP_COL4A5:NM_000495.3:c.1883C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1886G>A (p.Gly629Asp) | 1287 | COL4A5 | Pathogenic | 104886144 | RCV000021336; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842038 | 107842038 | NM_000495.4:c.1886G>A | NP_000486.1:p.Gly629Asp | NC_000023.10:g.107842038G>A | ARUP_COL4A5:NM_000495.3:c.1886G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1895G>A (p.Gly632Asp) | 1287 | COL4A5 | Pathogenic | 104886145 | RCV000021337; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842047 | 107842047 | NM_000495.4:c.1895G>A | NP_000486.1:p.Gly632Asp | NC_000023.10:g.107842047G>A | ARUP_COL4A5:NM_000495.3:c.1895G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1897G>A (p.Glu633Lys) | 1287 | COL4A5 | Pathogenic | 104886146 | RCV000021338; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842049 | 107842049 | NM_000495.4:c.1897G>A | NP_000486.1:p.Glu633Lys | NC_000023.10:g.107842049G>A | ARUP_COL4A5:NM_000495.3:c.1897G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1904G>A (p.Gly635Asp) | 1287 | COL4A5 | Pathogenic | 281874683 | RCV000021339; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842056 | 107842056 | NM_000495.4:c.1904G>A | NP_000486.1:p.Gly635Asp | NC_000023.10:g.107842056G>A | ARUP_COL4A5:NM_000495.3:c.1904G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1912G>A (p.Gly638Ser) | 1287 | COL4A5 | Pathogenic | 104886147 | RCV000021340; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842064 | 107842064 | NM_000495.4:c.1912G>A | NP_000486.1:p.Gly638Ser | NC_000023.10:g.107842064G>A | ARUP_COL4A5:NM_000495.3:c.1912G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1913G>C (p.Gly638Ala) | 1287 | COL4A5 | Pathogenic | 104886134 | RCV000021341; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842065 | 107842065 | NM_000495.4:c.1913G>C | NP_000486.1:p.Gly638Ala | NC_000023.10:g.107842065G>C,NC_000023.10:g.107842065G>T | ARUP_COL4A5:NM_000495.3:c.1913G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1913G>T (p.Gly638Val) | 1287 | COL4A5 | Pathogenic | 104886134 | RCV000021342; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842065 | 107842065 | NM_000495.4:c.1913G>T | NP_000486.1:p.Gly638Val | NC_000023.10:g.107842065G>C,NC_000023.10:g.107842065G>T | ARUP_COL4A5:NM_000495.3:c.1913G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1948+1G>A | 1287 | COL4A5 | Pathogenic | 104886339 | RCV000021343; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842101 | 107842101 | NM_000495.4:c.1948+1G>A | | NC_000023.10:g.107842101G>A | ARUP_COL4A5:NM_000495.3:c.1948+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1949-?_3373+?del | 1287 | COL4A5 | Pathogenic | -1 | RCV000021345; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107842101 | 107908736 | NM_000495.4:c.1949-?_3373+?del | | | dbVar:nssv7487020,dbVar:nsv1197492 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1957G>A (p.Gly653Arg) | 1287 | COL4A5 | Pathogenic | 104886150 | RCV000021346; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844631 | 107844631 | NM_000495.4:c.1957G>A | NP_000486.1:p.Gly653Arg | NC_000023.10:g.107844631G>A | ARUP_COL4A5:NM_000495.3:c.1957G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1960delG (p.Asp654Ilefs) | 1287 | COL4A5 | Pathogenic | 104886152 | RCV000021347; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844634 | 107844634 | NM_000495.4:c.1960delG | NP_000486.1:p.Asp654Ilefs | NC_000023.10:g.107844634delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1992G>T (p.Lys664Asn) | 1287 | COL4A5 | Benign | 34077552 | RCV000021348; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844666 | 107844666 | NM_000495.4:c.1992G>T | NP_000486.1:p.Lys664Asn | NC_000023.10:g.107844666G>T | ARUP_COL4A5:NM_000495.3:c.1992G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.1997G>A (p.Gly666Asp) | 1287 | COL4A5 | Pathogenic | 104886153 | RCV000021349; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844671 | 107844671 | NM_000495.4:c.1997G>A | NP_000486.1:p.Gly666Asp | NC_000023.10:g.107844671G>A | ARUP_COL4A5:NM_000495.3:c.1997G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2005G>C (p.Gly669Arg) | 1287 | COL4A5 | Pathogenic | 281874684 | RCV000021350; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844679 | 107844679 | NM_000495.4:c.2005G>C | NP_000486.1:p.Gly669Arg | NC_000023.10:g.107844679G>C | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2006G>C (p.Gly669Ala) | 1287 | COL4A5 | Pathogenic | 104886151 | RCV000021351; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844680 | 107844680 | NM_000495.4:c.2006G>C | NP_000486.1:p.Gly669Ala | NC_000023.10:g.107844680G>C | ARUP_COL4A5:NM_000495.3:c.2006G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2014G>C (p.Gly672Arg) | 1287 | COL4A5 | Pathogenic | 281874685 | RCV000032063; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844688 | 107844688 | NM_000495.4:c.2014G>C | NP_000486.1:p.Gly672Arg | NC_000023.10:g.107844688G>C | ARUP_COL4A5:NM_000495.3:c.2014G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2018delG (p.Arg673Lysfs) | 1287 | COL4A5 | Pathogenic | 104886156 | RCV000021352; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844692 | 107844692 | NM_000495.4:c.2018delG | NP_000486.1:p.Arg673Lysfs | NC_000023.10:g.107844692delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2023G>A (p.Gly675Ser) | 1287 | COL4A5 | Pathogenic | 104886157 | RCV000021353; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844697 | 107844697 | NM_000495.4:c.2023G>A | NP_000486.1:p.Gly675Ser | NC_000023.10:g.107844697G>A | ARUP_COL4A5:NM_000495.3:c.2023G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2041+1G>T | 1287 | COL4A5 | Pathogenic | 104886340 | RCV000021354; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107844716 | 107844716 | NM_000495.4:c.2041+1G>T | | NC_000023.10:g.107844716G>T | ARUP_COL4A5:NM_000495.3:c.2041+1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2042-18A>G | 1287 | COL4A5 | Pathogenic | 104886341 | RCV000021356; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845097 | 107845097 | NM_000495.4:c.2042-18A>G | | NC_000023.10:g.107845097A>G | ARUP_COL4A5:NM_000495.3:c.2042-18A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2042G>A (p.Gly681Asp) | 1287 | COL4A5 | Pathogenic | 104886158 | RCV000021357; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845115 | 107845115 | NM_000495.4:c.2042G>A | NP_000486.1:p.Gly681Asp | NC_000023.10:g.107845115G>A | ARUP_COL4A5:NM_000495.3:c.2042G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2050G>T (p.Gly684Ter) | 1287 | COL4A5 | Pathogenic | 104886159 | RCV000021358; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845123 | 107845123 | NM_000495.4:c.2050G>T | NP_000486.1:p.Gly684Ter | NC_000023.10:g.107845123G>T | ARUP_COL4A5:NM_000495.3:c.2050G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2051G>T (p.Gly684Val) | 1287 | COL4A5 | Pathogenic | 104886160 | RCV000021359; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845124 | 107845124 | NM_000495.4:c.2051G>T | NP_000486.1:p.Gly684Val | NC_000023.10:g.107845124G>T | ARUP_COL4A5:NM_000495.3:c.2051G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2055T>C (p.Leu685=) | 1287 | COL4A5 | Benign | 7884085 | RCV000021360; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845128 | 107845128 | NM_000495.4:c.2055T>C | NP_000486.1:p.Leu685= | NC_000023.10:g.107845128T>C | ARUP_COL4A5:NM_000495.3:c.2055T>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2057delC (p.Pro686Glnfs) | 1287 | COL4A5 | Pathogenic | 104886167 | RCV000021361; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845130 | 107845130 | NM_000495.4:c.2057delC | NP_000486.1:p.Pro686Glnfs | NC_000023.10:g.107845130delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2060G>A (p.Gly687Glu) | 1287 | COL4A5 | Pathogenic | 104886168 | RCV000021362; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845133 | 107845133 | NM_000495.4:c.2060G>A | NP_000486.1:p.Gly687Glu | NC_000023.10:g.107845133G>A | ARUP_COL4A5:NM_000495.3:c.2060G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2062_2114dup53 (p.Ile706Asnfs) | 1287 | COL4A5 | Pathogenic | 104886342 | RCV000021363; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845135 | 107845187 | NM_000495.4:c.2062_2114dup53 | NP_000486.1:p.Ile706Asnfs | NC_000023.10:g.107845135_107845187dup53 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2098G>T (p.Glu700Ter) | 1287 | COL4A5 | Pathogenic | 104886169 | RCV000021364; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845171 | 107845171 | NM_000495.4:c.2098G>T | NP_000486.1:p.Glu700Ter | NC_000023.10:g.107845171G>T | ARUP_COL4A5:NM_000495.3:c.2098G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2107A>G (p.Ile703Val) | 1287 | COL4A5 | Benign | 104886155 | RCV000021365; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845180 | 107845180 | NM_000495.4:c.2107A>G | NP_000486.1:p.Ile703Val | NC_000023.10:g.107845180A>G | ARUP_COL4A5:NM_000495.3:c.2107A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2146G>C (p.Gly716Arg) | 1287 | COL4A5 | Pathogenic | 104886161 | RCV000021366; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845219 | 107845219 | NM_000495.4:c.2146G>C | NP_000486.1:p.Gly716Arg | NC_000023.10:g.107845219G>C | ARUP_COL4A5:NM_000495.3:c.2146G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2147-?_2767+?dup621 | 1287 | COL4A5 | Pathogenic | -1 | RCV000021371; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845220 | 107865905 | NM_000495.4:c.2147-?_2767+?dup621 | | | dbVar:nssv7487021,dbVar:nsv1197371 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2146+3A>C | 1287 | COL4A5 | Pathogenic | 104886343 | RCV000021367; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107845222 | 107845222 | NM_000495.4:c.2146+3A>C | | NC_000023.10:g.107845222A>C | ARUP_COL4A5:NM_000495.3:c.2146+3A>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2147-3C>G | 1287 | COL4A5 | Pathogenic | 104886345 | RCV000021368; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846191 | 107846191 | NM_000495.4:c.2147-3C>G | | NC_000023.10:g.107846191C>G | ARUP_COL4A5:NM_000495.3:c.2147-3C>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2147-2A>G | 1287 | COL4A5 | Pathogenic | 104886344 | RCV000021369; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846192 | 107846192 | NM_000495.4:c.2147-2A>G | | NC_000023.10:g.107846192A>G | ARUP_COL4A5:NM_000495.3:c.2147-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2147delG (p.Gly716Alafs) | 1287 | COL4A5 | Pathogenic | 104886162 | RCV000021370; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846194 | 107846194 | NM_000495.4:c.2147delG | NP_000486.1:p.Gly716Alafs | NC_000023.10:g.107846194delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2155G>C (p.Gly719Arg) | 1287 | COL4A5 | Pathogenic | 281874686 | RCV000021372; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846202 | 107846202 | NM_000495.4:c.2155G>C | NP_000486.1:p.Gly719Arg | NC_000023.10:g.107846202G>C | ARUP_COL4A5:NM_000495.3:c.2155G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2164G>C (p.Gly722Arg) | 1287 | COL4A5 | Pathogenic | 281874687 | RCV000032064; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846211 | 107846211 | NM_000495.4:c.2164G>C | NP_000486.1:p.Gly722Arg | NC_000023.10:g.107846211G>C | ARUP_COL4A5:NM_000495.3:c.2164G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2165G>A (p.Gly722Glu) | 1287 | COL4A5 | Pathogenic | 104886163 | RCV000021373; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846212 | 107846212 | NM_000495.4:c.2165G>A | NP_000486.1:p.Gly722Glu | NC_000023.10:g.107846212G>A | ARUP_COL4A5:NM_000495.3:c.2165G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2206_2226del21 (p.Glu736_Pro742del) | 1287 | COL4A5 | Pathogenic | 104886346 | RCV000021374; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846253 | 107846273 | NM_000495.4:c.2206_2226del21 | NP_000486.1:p.Glu736_Pro742del | NC_000023.10:g.107846253_107846273del21 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2215C>T (p.Pro739Ser) | 1287 | COL4A5 | Pathogenic | 104886164 | RCV000021375; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846262 | 107846262 | NM_000495.4:c.2215C>T | NP_000486.1:p.Pro739Ser | NC_000023.10:g.107846262C>T | ARUP_COL4A5:NM_000495.3:c.2215C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2219G>A (p.Gly740Glu) | 1287 | COL4A5 | Pathogenic | 104886165 | RCV000021376; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846266 | 107846266 | NM_000495.4:c.2219G>A | NP_000486.1:p.Gly740Glu | NC_000023.10:g.107846266G>A | ARUP_COL4A5:NM_000495.3:c.2219G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2228G>A (p.Gly743Asp) | 1287 | COL4A5 | Pathogenic | 104886166 | RCV000021377; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846275 | 107846275 | NM_000495.4:c.2228G>A | NP_000486.1:p.Gly743Asp | NC_000023.10:g.107846275G>A | ARUP_COL4A5:NM_000495.3:c.2228G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2244+1G>T | 1287 | COL4A5 | Pathogenic | 281874688 | RCV000021378; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846292 | 107846292 | NM_000495.4:c.2244+1G>T | | NC_000023.10:g.107846292G>T | ARUP_COL4A5:NM_000495.3:c.2244+1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2244+2T>G | 1287 | COL4A5 | Pathogenic | 104886347 | RCV000021379; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107846293 | 107846293 | NM_000495.4:c.2244+2T>G | | NC_000023.10:g.107846293T>G | ARUP_COL4A5:NM_000495.3:c.2244+2T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2245-1G>A | 1287 | COL4A5 | Pathogenic | 104886348 | RCV000021380; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107849971 | 107849971 | NM_000495.4:c.2245-1G>A | | NC_000023.10:g.107849971G>A | ARUP_COL4A5:NM_000495.3:c.2245-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2287G>A (p.Gly763Arg) | 1287 | COL4A5 | Pathogenic | 104886171 | RCV000021381; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850014 | 107850014 | NM_000495.4:c.2287G>A | NP_000486.1:p.Gly763Arg | NC_000023.10:g.107850014G>A | ARUP_COL4A5:NM_000495.3:c.2287G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2288G>A (p.Gly763Glu) | 1287 | COL4A5 | Pathogenic | 281874689 | RCV000021382; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850015 | 107850015 | NM_000495.4:c.2288G>A | NP_000486.1:p.Gly763Glu | NC_000023.10:g.107850015G>A | ARUP_COL4A5:NM_000495.3:c.2288G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2297G>A (p.Gly766Asp) | 1287 | COL4A5 | Pathogenic | 104886172 | RCV000021383; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850024 | 107850024 | NM_000495.4:c.2297G>A | NP_000486.1:p.Gly766Asp | NC_000023.10:g.107850024G>A | ARUP_COL4A5:NM_000495.3:c.2297G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2305G>A (p.Gly769Arg) | 1287 | COL4A5 | Pathogenic | 281874690 | RCV000021384; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850032 | 107850032 | NM_000495.4:c.2305G>A | NP_000486.1:p.Gly769Arg | NC_000023.10:g.107850032G>A | ARUP_COL4A5:NM_000495.3:c.2305G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2315G>A (p.Gly772Asp) | 1287 | COL4A5 | Pathogenic | 104886173 | RCV000021385; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850042 | 107850042 | NM_000495.4:c.2315G>A | NP_000486.1:p.Gly772Asp | NC_000023.10:g.107850042G>A,NC_000023.10:g.107850042G>C | ARUP_COL4A5:NM_000495.3:c.2315G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2315G>C (p.Gly772Ala) | 1287 | COL4A5 | Pathogenic | 104886173 | RCV000021386; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850042 | 107850042 | NM_000495.4:c.2315G>C | NP_000486.1:p.Gly772Ala | NC_000023.10:g.107850042G>A,NC_000023.10:g.107850042G>C | ARUP_COL4A5:NM_000495.3:c.2315G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2322dupA (p.Gly775Argfs) | 1287 | COL4A5 | Pathogenic | 104886351 | RCV000021387; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850049 | 107850049 | NM_000495.4:c.2322dupA | NP_000486.1:p.Gly775Argfs | NC_000023.10:g.107850049dupA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2332G>A (p.Gly778Ser) | 1287 | COL4A5 | Pathogenic | 104886174 | RCV000021388; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850059 | 107850059 | NM_000495.4:c.2332G>A | NP_000486.1:p.Gly778Ser | NC_000023.10:g.107850059G>A | ARUP_COL4A5:NM_000495.3:c.2332G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2348delC (p.Pro783Argfs) | 1287 | COL4A5 | Pathogenic | 104886175 | RCV000021389; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850075 | 107850075 | NM_000495.4:c.2348delC | NP_000486.1:p.Pro783Argfs | NC_000023.10:g.107850075delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2349G>A (p.Pro783=) | 1287 | COL4A5 | Benign | 3747408 | RCV000021390; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850076 | 107850076 | NM_000495.4:c.2349G>A | NP_000486.1:p.Pro783= | NC_000023.10:g.107850076G>A | ARUP_COL4A5:NM_000495.3:c.2349G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2360G>T (p.Gly787Val) | 1287 | COL4A5 | Pathogenic | 104886176 | RCV000021391; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850087 | 107850087 | NM_000495.4:c.2360G>T | NP_000486.1:p.Gly787Val | NC_000023.10:g.107850087G>T | ARUP_COL4A5:NM_000495.3:c.2360G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2386G>A (p.Gly796Arg) | 1287 | COL4A5 | Pathogenic | 104886177 | RCV000021392; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850113 | 107850113 | NM_000495.4:c.2386G>A | NP_000486.1:p.Gly796Arg | NC_000023.10:g.107850113G>A | ARUP_COL4A5:NM_000495.3:c.2386G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2394A>G (p.Lys798=) | 1287 | COL4A5 | Pathogenic | 281874691 | RCV000021393; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850121 | 107850121 | NM_000495.4:c.2394A>G | NP_000486.1:p.Lys798= | NC_000023.10:g.107850121A>G | ARUP_COL4A5:NM_000495.3:c.2394A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.2395+1G>A | 1287 | COL4A5 | Pathogenic | 869025331 | RCV000207617; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850123 | 107850123 | NM_033380.2:c.2395+1G>A | | NC_000023.10:g.107850123G>A | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2395+2delT | 1287 | COL4A5 | Pathogenic | 104886178 | RCV000021394; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107850124 | 107850124 | NM_000495.4:c.2395+2delT | | NC_000023.10:g.107850124delT | ARUP_COL4A5:NM_000495.3:c.2395+2delT | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2404G>A (p.Gly802Arg) | 1287 | COL4A5 | Pathogenic | 104886179 | RCV000021397; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858149 | 107858149 | NM_000495.4:c.2404G>A | NP_000486.1:p.Gly802Arg | NC_000023.10:g.107858149G>A | ARUP_COL4A5:NM_000495.3:c.2404G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2423G>A (p.Gly808Glu) | 1287 | COL4A5 | Pathogenic | 104886180 | RCV000021398; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858168 | 107858168 | NM_000495.4:c.2423G>A | NP_000486.1:p.Gly808Glu | NC_000023.10:g.107858168G>A | ARUP_COL4A5:NM_000495.3:c.2423G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2431G>A (p.Gly811Arg) | 1287 | COL4A5 | Pathogenic | 104886182 | RCV000021399; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858176 | 107858176 | NM_000495.4:c.2431G>A | NP_000486.1:p.Gly811Arg | NC_000023.10:g.107858176G>A | ARUP_COL4A5:NM_000495.3:c.2431G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2432G>T (p.Gly811Val) | 1287 | COL4A5 | Pathogenic | 104886183 | RCV000021400; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858177 | 107858177 | NM_000495.4:c.2432G>T | NP_000486.1:p.Gly811Val | NC_000023.10:g.107858177G>T | ARUP_COL4A5:NM_000495.3:c.2432G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2434_2441delCCTCCTGGinsAACCTGGACCAATGGGACCAATGGGAACAC (p.Pro812Asnfs) | 1287 | COL4A5 | Pathogenic | 397515495 | RCV000032065; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858179 | 107858186 | NM_000495.4:c.2434_2441delCCTCCTGGinsAACCTGGACCAATGGGACCAATGGGAACAC | NP_000486.1:p.Pro812Asnfs | NC_000023.10:g.107858179_107858186delCCTCCTGGinsAACCTGGACCAATGGGACCAATGGGAACAC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2464G>C (p.Gly822Arg) | 1287 | COL4A5 | Pathogenic | 104886184 | RCV000021404; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858209 | 107858209 | NM_000495.4:c.2464G>C | NP_000486.1:p.Gly822Arg | NC_000023.10:g.107858209G>C | ARUP_COL4A5:NM_000495.3:c.2464G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2473G>T (p.Gly825Ter) | 1287 | COL4A5 | Pathogenic | 281874692 | RCV000021405; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858218 | 107858218 | NM_000495.4:c.2473G>T | NP_000486.1:p.Gly825Ter | NC_000023.10:g.107858218G>T | ARUP_COL4A5:NM_000495.3:c.2473G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2475_2483delACCACCAGG (p.Pro826_Gly828del) | 1287 | COL4A5 | Pathogenic | 104886356 | RCV000021406; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858220 | 107858228 | NM_000495.4:c.2475_2483delACCACCAGG | NP_000486.1:p.Pro826_Gly828del | NC_000023.10:g.107858220_107858228delACCACCAGG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2476delC (p.Pro826Hisfs) | 1287 | COL4A5 | Pathogenic | 281874694 | RCV000021407; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858221 | 107858221 | NM_000495.4:c.2476delC | NP_000486.1:p.Pro826Hisfs | NC_000023.10:g.107858221delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2483G>A (p.Gly828Glu) | 1287 | COL4A5 | Pathogenic | 281874695 | RCV000032066; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858228 | 107858228 | NM_000495.4:c.2483G>A | NP_000486.1:p.Gly828Glu | NC_000023.10:g.107858228G>A | ARUP_COL4A5:NM_000495.3:c.2483G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2500G>C (p.Gly834Arg) | 1287 | COL4A5 | Pathogenic | 281874696 | RCV000021408; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858245 | 107858245 | NM_000495.4:c.2500G>C | NP_000486.1:p.Gly834Arg | NC_000023.10:g.107858245G>C | ARUP_COL4A5:NM_000495.3:c.2500G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2509G>A | 1287 | COL4A5 | Pathogenic | 104886185 | RCV000021409; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107858254 | 107858254 | NM_000495.4:c.2509G>A | | NC_000023.10:g.107858254G>A | ARUP_COL4A5:NM_000495.3:c.2509G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2510-33A>G | 1287 | COL4A5 | Pathogenic | 104886358 | RCV000021410; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863456 | 107863456 | NM_000495.4:c.2510-33A>G | | NC_000023.10:g.107863456A>G | ARUP_COL4A5:NM_000495.3:c.2510-33A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2510delG (p.Gly837Valfs) | 1287 | COL4A5 | Pathogenic | 104886181 | RCV000021411; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863489 | 107863489 | NM_000495.4:c.2510delG | NP_000486.1:p.Gly837Valfs | NC_000023.10:g.107863489delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
COL4A5:c.2510-?_2677+?del (p.Gly837_Gly893delinsGly) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021413; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863489 | 107863656 | NM_000495.4:c.(?_2510)_(2677_?)del | NP_000486.1:p.(?) | | dbVar:nssv7487022,dbVar:nsv1197372 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2550_2573del24 (p.Leu853_Gly860del) | 1287 | COL4A5 | Pathogenic | 104886359 | RCV000021414; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863529 | 107863552 | NM_000495.4:c.2550_2573del24 | NP_000486.1:p.Leu853_Gly860del | NC_000023.10:g.107863529_107863552del24 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2554G>A (p.Gly852Arg) | 1287 | COL4A5 | Pathogenic | 104886186 | RCV000021415; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863533 | 107863533 | NM_000495.4:c.2554G>A | NP_000486.1:p.Gly852Arg | NC_000023.10:g.107863533G>A | ARUP_COL4A5:NM_000495.3:c.2554G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2555G>A (p.Gly852Glu) | 1287 | COL4A5 | Pathogenic | 104886187 | RCV000021416; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863534 | 107863534 | NM_000495.4:c.2555G>A | NP_000486.1:p.Gly852Glu | NC_000023.10:g.107863534G>A | ARUP_COL4A5:NM_000495.3:c.2555G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2578G>C (p.Gly860Arg) | 1287 | COL4A5 | Pathogenic | 281874697 | RCV000021417; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863557 | 107863557 | NM_000495.4:c.2578G>C | NP_000486.1:p.Gly860Arg | NC_000023.10:g.107863557G>C | ARUP_COL4A5:NM_000495.3:c.2578G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2587_2606del20ins75 (p.?) | 1287 | COL4A5 | Pathogenic | -1 | RCV000032068; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863566 | 107863585 | NM_000495.4:c.2587_2606del20ins75 | NP_000486.1:p.? | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2595_2612del18 (p.Ile867_Gly872del) | 1287 | COL4A5 | Pathogenic | 104886355 | RCV000021419; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863574 | 107863591 | NM_000495.4:c.2595_2612del18 | NP_000486.1:p.Ile867_Gly872del | NC_000023.10:g.107863574_107863591del18 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2597G>A (p.Gly866Glu) | 1287 | COL4A5 | Pathogenic | 104886188 | RCV000021420; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863576 | 107863576 | NM_000495.4:c.2597G>A | NP_000486.1:p.Gly866Glu | NC_000023.10:g.107863576G>A | ARUP_COL4A5:NM_000495.3:c.2597G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2605G>A (p.Gly869Arg) | 1287 | COL4A5 | Pathogenic | 104886189 | RCV000021422; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863584 | 107863584 | NM_000495.4:c.2605G>A | NP_000486.1:p.Gly869Arg | NC_000023.10:g.107863584G>A | ARUP_COL4A5:NM_000495.3:c.2605G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2614G>C (p.Gly872Arg) | 1287 | COL4A5 | Pathogenic | 104886190 | RCV000021423; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863593 | 107863593 | NM_000495.4:c.2614G>C | NP_000486.1:p.Gly872Arg | NC_000023.10:g.107863593G>C | ARUP_COL4A5:NM_000495.3:c.2614G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2623G>C (p.Gly875Arg) | 1287 | COL4A5 | Pathogenic | 281874698 | RCV000032069; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863602 | 107863602 | NM_000495.4:c.2623G>C | NP_000486.1:p.Gly875Arg | NC_000023.10:g.107863602G>C | ARUP_COL4A5:NM_000495.3:c.2623G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2624G>A (p.Gly875Glu) | 1287 | COL4A5 | Pathogenic | 104886191 | RCV000021424; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863603 | 107863603 | NM_000495.4:c.2624G>A | NP_000486.1:p.Gly875Glu | NC_000023.10:g.107863603G>A | ARUP_COL4A5:NM_000495.3:c.2624G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2625delA (p.Pro876Leufs) | 1287 | COL4A5 | Pathogenic | 104886198 | RCV000021425; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863604 | 107863604 | NM_000495.4:c.2625delA | NP_000486.1:p.Pro876Leufs | NC_000023.10:g.107863604delA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2633G>T (p.Gly878Val) | 1287 | COL4A5 | Pathogenic | 104886199 | RCV000021426; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863612 | 107863612 | NM_000495.4:c.2633G>T | NP_000486.1:p.Gly878Val | NC_000023.10:g.107863612G>T | ARUP_COL4A5:NM_000495.3:c.2633G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2643delG (p.Leu882Phefs) | 1287 | COL4A5 | Pathogenic | 104886200 | RCV000021421; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863622 | 107863622 | NM_000495.4:c.2643delG | NP_000486.1:p.Leu882Phefs | NC_000023.10:g.107863622delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2659G>C (p.Gly887Arg) | 1287 | COL4A5 | Pathogenic | 281874699 | RCV000021427; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863638 | 107863638 | NM_000495.4:c.2659G>C | NP_000486.1:p.Gly887Arg | NC_000023.10:g.107863638G>C | ARUP_COL4A5:NM_000495.3:c.2659G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2660G>T (p.Gly887Val) | 1287 | COL4A5 | Pathogenic | 104886201 | RCV000021428; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107863639 | 107863639 | NM_000495.4:c.2660G>T | NP_000486.1:p.Gly887Val | NC_000023.10:g.107863639G>T | ARUP_COL4A5:NM_000495.3:c.2660G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2678-10T>G | 1287 | COL4A5 | Pathogenic | 104886360 | RCV000021429; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865023 | 107865023 | NM_000495.4:c.2678-10T>G | | NC_000023.10:g.107865023T>G | ARUP_COL4A5:NM_000495.3:c.2678-10T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2678G>T (p.Gly893Val) | 1287 | COL4A5 | Pathogenic | 397515496 | RCV000032070; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865033 | 107865033 | NM_000495.4:c.2678G>T | NP_000486.1:p.Gly893Val | NC_000023.10:g.107865033G>T | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2686delG (p.Gly896Valfs) | 1287 | COL4A5 | Pathogenic | 281874700 | RCV000021432; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865041 | 107865041 | NM_000495.4:c.2686delG | NP_000486.1:p.Gly896Valfs | NC_000023.10:g.107865041delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2692A>G (p.Met898Val) | 1287 | COL4A5 | Pathogenic | 104886192 | RCV000021433; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865047 | 107865047 | NM_000495.4:c.2692A>G | NP_000486.1:p.Met898Val | NC_000023.10:g.107865047A>G | ARUP_COL4A5:NM_000495.3:c.2692A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2696_2705delGTATGATGGG (p.Gly899Aspfs) | 1287 | COL4A5 | Pathogenic | 281874701 | RCV000032071; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865051 | 107865060 | NM_000495.4:c.2696_2705delGTATGATGGG | NP_000486.1:p.Gly899Aspfs | NC_000023.10:g.107865051_107865060delGTATGATGGG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2696G>T (p.Gly899Val) | 1287 | COL4A5 | Pathogenic | 281874702 | RCV000032072; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865051 | 107865051 | NM_000495.4:c.2696G>T | NP_000486.1:p.Gly899Val | NC_000023.10:g.107865051G>T | ARUP_COL4A5:NM_000495.3:c.2696G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2705G>A (p.Gly902Glu) | 1287 | COL4A5 | Pathogenic | 104886361 | RCV000021434; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865060 | 107865060 | NM_000495.4:c.2705G>A | NP_000486.1:p.Gly902Glu | NC_000023.10:g.107865060G>A | ARUP_COL4A5:NM_000495.3:c.2705G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2708dupC (p.Pro904Serfs) | 1287 | COL4A5 | Pathogenic | 104886362 | RCV000021435; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865063 | 107865063 | NM_000495.4:c.2708dupC | NP_000486.1:p.Pro904Serfs | NC_000023.10:g.107865063dupC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2722G>A (p.Gly908Arg) | 1287 | COL4A5 | Pathogenic | 281874703 | RCV000021436; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865077 | 107865077 | NM_000495.4:c.2722G>A | NP_000486.1:p.Gly908Arg | NC_000023.10:g.107865077G>A | ARUP_COL4A5:NM_000495.3:c.2722G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2731G>A (p.Gly911Arg) | 1287 | COL4A5 | Pathogenic | 281874704 | RCV000021437; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865086 | 107865086 | NM_000495.4:c.2731G>A | NP_000486.1:p.Gly911Arg | NC_000023.10:g.107865086G>A | ARUP_COL4A5:NM_000495.3:c.2731G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2732G>A (p.Gly911Glu) | 1287 | COL4A5 | Pathogenic | 104886363 | RCV000021438; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865087 | 107865087 | NM_000495.4:c.2732G>A | NP_000486.1:p.Gly911Glu | NC_000023.10:g.107865087G>A | ARUP_COL4A5:NM_000495.3:c.2732G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.2741G>A (p.Gly914Asp) | 1287 | COL4A5 | Pathogenic | 869025332 | RCV000207888; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865096 | 107865096 | NM_033380.2:c.2741G>A | NP_203699.1:p.Gly914Asp | NC_000023.10:g.107865096G>A | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2746A>G (p.Ser916Gly) | 1287 | COL4A5 | Pathogenic | 104886193 | RCV000021440; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865101 | 107865101 | NM_000495.4:c.2746A>G | NP_000486.1:p.Ser916Gly | NC_000023.10:g.107865101A>G | ARUP_COL4A5:NM_000495.3:c.2746A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2767+2delT | 1287 | COL4A5 | Pathogenic | 104886366 | RCV000021441; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865124 | 107865124 | NM_000495.4:c.2767+2delT | | NC_000023.10:g.107865124delT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2768-11A>G | 1287 | COL4A5 | Benign | 1006269 | RCV000021442; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865895 | 107865895 | NM_000495.4:c.2768-11A>G | | NC_000023.10:g.107865895A>G | ARUP_COL4A5:NM_000495.3:c.2768-11A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2782C>T (p.Gln928Ter) | 1287 | COL4A5 | Pathogenic | 281874705 | RCV000021443; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865920 | 107865920 | NM_000495.4:c.2782C>T | NP_000486.1:p.Gln928Ter | NC_000023.10:g.107865920C>T | ARUP_COL4A5:NM_000495.3:c.2782C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2788C>T (p.Gln930Ter) | 1287 | COL4A5 | Pathogenic | 104886194 | RCV000021444; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865926 | 107865926 | NM_000495.4:c.2788C>T | NP_000486.1:p.Gln930Ter | NC_000023.10:g.107865926C>T | ARUP_COL4A5:NM_000495.3:c.2788C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2802dupT (p.Gly935Trpfs) | 1287 | COL4A5 | Pathogenic | 104886368 | RCV000021445; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865940 | 107865940 | NM_000495.4:c.2802dupT | NP_000486.1:p.Gly935Trpfs | NC_000023.10:g.107865940dupT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2804G>A (p.Gly935Asp) | 1287 | COL4A5 | Pathogenic | 104886195 | RCV000021446; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865942 | 107865942 | NM_000495.4:c.2804G>A | NP_000486.1:p.Gly935Asp | NC_000023.10:g.107865942G>A | ARUP_COL4A5:NM_000495.3:c.2804G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2821G>T (p.Gly941Cys) | 1287 | COL4A5 | Pathogenic | 104886196 | RCV000021447; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865959 | 107865959 | NM_000495.4:c.2821G>T | NP_000486.1:p.Gly941Cys | NC_000023.10:g.107865959G>T | ARUP_COL4A5:NM_000495.3:c.2821G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2823_2825delTAG (p.Ser942del) | 1287 | COL4A5 | Pathogenic | 104886369 | RCV000021448; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865961 | 107865963 | NM_000495.4:c.2823_2825delTAG | NP_000486.1:p.Ser942del | NC_000023.10:g.107865961_107865963delTAG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2840G>A (p.Gly947Asp) | 1287 | COL4A5 | Pathogenic | 104886370 | RCV000021449; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865978 | 107865978 | NM_000495.4:c.2840G>A | NP_000486.1:p.Gly947Asp | NC_000023.10:g.107865978G>A | ARUP_COL4A5:NM_000495.3:c.2840G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2846delC (p.Pro949Glnfs) | 1287 | COL4A5 | Pathogenic | 104886197 | RCV000021450; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865984 | 107865984 | NM_000495.4:c.2846delC | NP_000486.1:p.Pro949Glnfs | NC_000023.10:g.107865984delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2858G>T (p.Gly953Val) | 1287 | COL4A5 | Pathogenic | 78972735 | RCV000021452; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107865996 | 107865996 | NM_000495.4:c.2858G>T | NP_000486.1:p.Gly953Val | NC_000023.10:g.107865996G>T | ARUP_COL4A5:NM_000495.3:c.2858G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2917+1G>C | 1287 | COL4A5 | Pathogenic | 104886371 | RCV000021453; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107866056 | 107866056 | NM_000495.4:c.2917+1G>C | | NC_000023.10:g.107866056G>C,NC_000023.10:g.107866056G>T | ARUP_COL4A5:NM_000495.3:c.2917+1G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2917+1G>T | 1287 | COL4A5 | Pathogenic | 104886371 | RCV000021454; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107866056 | 107866056 | NM_000495.4:c.2917+1G>T | | NC_000023.10:g.107866056G>C,NC_000023.10:g.107866056G>T | ARUP_COL4A5:NM_000495.3:c.2917+1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2918-1G>T | 1287 | COL4A5 | Pathogenic | 104886372 | RCV000021455; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107867465 | 107867465 | NM_000495.4:c.2918-1G>T | | NC_000023.10:g.107867465G>T | ARUP_COL4A5:NM_000495.3:c.2918-1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2943delA (p.Gly982Valfs) | 1287 | COL4A5 | Pathogenic | 104886204 | RCV000021458; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107867491 | 107867491 | NM_000495.4:c.2943delA | NP_000486.1:p.Gly982Valfs | NC_000023.10:g.107867491delA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2947delT (p.Tyr983Ilefs) | 1287 | COL4A5 | Pathogenic | 281874708 | RCV000032074; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107867495 | 107867495 | NM_000495.4:c.2947delT | NP_000486.1:p.Tyr983Ilefs | NC_000023.10:g.107867495delT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2959_2976del18 (p.Asp989_Gly994del) | 1287 | COL4A5 | Pathogenic | 104886374 | RCV000021459; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107867507 | 107867524 | NM_000495.4:c.2959_2976del18 | NP_000486.1:p.Asp989_Gly994del | NC_000023.10:g.107867507_107867524del18 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2965delG (p.Asp989Thrfs) | 1287 | COL4A5 | Pathogenic | 104886206 | RCV000021460; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107867513 | 107867513 | NM_000495.4:c.2965delG | NP_000486.1:p.Asp989Thrfs | NC_000023.10:g.107867513delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.2999G>T (p.Gly1000Val) | 1287 | COL4A5 | Benign | 281874709 | RCV000021461; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107867547 | 107867547 | NM_000495.4:c.2999G>T | NP_000486.1:p.Gly1000Val | NC_000023.10:g.107867547G>T | ARUP_COL4A5:NM_000495.3:c.2999G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3016+1G>T | 1287 | COL4A5 | Pathogenic | 104886377 | RCV000021462; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107867565 | 107867565 | NM_000495.4:c.3016+1G>T | | NC_000023.10:g.107867565G>T | ARUP_COL4A5:NM_000495.3:c.3016+1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3017-1G>A | 1287 | COL4A5 | Pathogenic | 104886378 | RCV000021463; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107868934 | 107868934 | NM_000495.4:c.3017-1G>A | | NC_000023.10:g.107868934G>A | ARUP_COL4A5:NM_000495.3:c.3017-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3017G>T (p.Gly1006Val) | 1287 | COL4A5 | Pathogenic | 104886202 | RCV000021464; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107868935 | 107868935 | NM_000495.4:c.3017G>T | NP_000486.1:p.Gly1006Val | NC_000023.10:g.107868935G>T | ARUP_COL4A5:NM_000495.3:c.3017G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3044G>T (p.Gly1015Val) | 1287 | COL4A5 | Pathogenic | 104886211 | RCV000021466; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107868962 | 107868962 | NM_000495.4:c.3044G>T | NP_000486.1:p.Gly1015Val | NC_000023.10:g.107868962G>T | ARUP_COL4A5:NM_000495.3:c.3044G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3046C>T (p.Gln1016Ter) | 1287 | COL4A5 | Pathogenic | 104886207 | RCV000021467; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107868964 | 107868964 | NM_000495.4:c.3046C>T | NP_000486.1:p.Gln1016Ter | NC_000023.10:g.107868964C>T | ARUP_COL4A5:NM_000495.3:c.3046C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3046delC (p.Gln1016Serfs) | 1287 | COL4A5 | Pathogenic | 281874710 | RCV000032077; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107868964 | 107868964 | NM_000495.4:c.3046delC | NP_000486.1:p.Gln1016Serfs | NC_000023.10:g.107868964delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3057delT (p.Ile1020Terfs) | 1287 | COL4A5 | Pathogenic | 104886208 | RCV000021468; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107868975 | 107868975 | NM_000495.4:c.3057delT | NP_000486.1:p.Ile1020Terfs | NC_000023.10:g.107868975delT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3080G>T (p.Gly1027Val) | 1287 | COL4A5 | Pathogenic | 104886209 | RCV000021469; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107868998 | 107868998 | NM_000495.4:c.3080G>T | NP_000486.1:p.Gly1027Val | NC_000023.10:g.107868998G>T | ARUP_COL4A5:NM_000495.3:c.3080G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3088G>A (p.Gly1030Ser) | 1287 | COL4A5 | Pathogenic | 104886210 | RCV000021470; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869006 | 107869006 | NM_000495.4:c.3088G>A | NP_000486.1:p.Gly1030Ser | NC_000023.10:g.107869006G>A | ARUP_COL4A5:NM_000495.3:c.3088G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3107-4A>G | 1287 | COL4A5 | Pathogenic | 397515497 | RCV000032075; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869436 | 107869436 | NM_000495.4:c.3107-4A>G | | NC_000023.10:g.107869436A>G | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3107-2A>G | 1287 | COL4A5 | Pathogenic | 104886379 | RCV000021472; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869438 | 107869438 | NM_000495.4:c.3107-2A>G | | NC_000023.10:g.107869438A>G | ARUP_COL4A5:NM_000495.3:c.3107-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3107G>T (p.Gly1036Val) | 1287 | COL4A5 | Pathogenic | 104886212 | RCV000021473; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869440 | 107869440 | NM_000495.4:c.3107G>T | NP_000486.1:p.Gly1036Val | NC_000023.10:g.107869440G>T | ARUP_COL4A5:NM_000495.3:c.3107G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3115G>A (p.Gly1039Ser) | 1287 | COL4A5 | Pathogenic | 104886214 | RCV000021474; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869448 | 107869448 | NM_000495.4:c.3115G>A | NP_000486.1:p.Gly1039Ser | NC_000023.10:g.107869448G>A | ARUP_COL4A5:NM_000495.3:c.3115G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3134G>A (p.Gly1045Glu) | 1287 | COL4A5 | Pathogenic | 104886215 | RCV000021475; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869467 | 107869467 | NM_000495.4:c.3134G>A | NP_000486.1:p.Gly1045Glu | NC_000023.10:g.107869467G>A | ARUP_COL4A5:NM_000495.3:c.3134G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3167delC (p.Pro1056Glnfs) | 1287 | COL4A5 | Pathogenic | 281874711 | RCV000021476; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869500 | 107869500 | NM_000495.4:c.3167delC | NP_000486.1:p.Pro1056Glnfs | NC_000023.10:g.107869500delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3169G>T (p.Gly1057Ter) | 1287 | COL4A5 | Pathogenic | 104886216 | RCV000021477; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869502 | 107869502 | NM_000495.4:c.3169G>T | NP_000486.1:p.Gly1057Ter | NC_000023.10:g.107869502G>T | ARUP_COL4A5:NM_000495.3:c.3169G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3178G>T (p.Gly1060Ter) | 1287 | COL4A5 | Pathogenic | 104886217 | RCV000021478; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869511 | 107869511 | NM_000495.4:c.3178G>T | NP_000486.1:p.Gly1060Ter | NC_000023.10:g.107869511G>T | ARUP_COL4A5:NM_000495.3:c.3178G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3181C>T (p.Gln1061Ter) | 1287 | COL4A5 | Pathogenic | 104886213 | RCV000021479; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869514 | 107869514 | NM_000495.4:c.3181C>T | NP_000486.1:p.Gln1061Ter | NC_000023.10:g.107869514C>T | ARUP_COL4A5:NM_000495.3:c.3181C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3188G>T (p.Gly1063Val) | 1287 | COL4A5 | Pathogenic | 104886218 | RCV000021480; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869521 | 107869521 | NM_000495.4:c.3188G>T | NP_000486.1:p.Gly1063Val | NC_000023.10:g.107869521G>T | ARUP_COL4A5:NM_000495.3:c.3188G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3196G>C (p.Gly1066Arg) | 1287 | COL4A5 | Pathogenic | 104886219 | RCV000021481; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869529 | 107869529 | NM_000495.4:c.3196G>C | NP_000486.1:p.Gly1066Arg | NC_000023.10:g.107869529G>A,NC_000023.10:g.107869529G>C | ARUP_COL4A5:NM_000495.3:c.3196G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3196G>A (p.Gly1066Ser) | 1287 | COL4A5 | Pathogenic | 104886219 | RCV000021482; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869529 | 107869529 | NM_000495.4:c.3196G>A | NP_000486.1:p.Gly1066Ser | NC_000023.10:g.107869529G>A,NC_000023.10:g.107869529G>C | ARUP_COL4A5:NM_000495.3:c.3196G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3197G>C (p.Gly1066Ala) | 1287 | COL4A5 | Pathogenic | 104886221 | RCV000021483; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869530 | 107869530 | NM_000495.4:c.3197G>C | NP_000486.1:p.Gly1066Ala | NC_000023.10:g.107869530G>C | ARUP_COL4A5:NM_000495.3:c.3197G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3206G>T (p.Gly1069Val) | 1287 | COL4A5 | Pathogenic | 281874712 | RCV000021484; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869539 | 107869539 | NM_000495.4:c.3206G>T | NP_000486.1:p.Gly1069Val | NC_000023.10:g.107869539G>T | ARUP_COL4A5:NM_000495.3:c.3206G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3212C>G (p.Ser1071Ter) | 1287 | COL4A5 | Pathogenic | 104886222 | RCV000021485; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107869545 | 107869545 | NM_000495.4:c.3212C>G | NP_000486.1:p.Ser1071Ter | NC_000023.10:g.107869545C>G | ARUP_COL4A5:NM_000495.3:c.3212C>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3247G>A (p.Gly1083Ser) | 1287 | COL4A5 | Pathogenic | 104886223 | RCV000021486; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898561 | 107898561 | NM_000495.4:c.3247G>A | NP_000486.1:p.Gly1083Ser | NC_000023.10:g.107898561G>A | ARUP_COL4A5:NM_000495.3:c.3247G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.3247-?_3373+?del (p.(?)) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021487; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898561 | 107898687 | - | - | | dbVar:nssv7487023,dbVar:nsv1197373 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.3247-?_3373+?del (p.(?)) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021490; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898561 | 107898687 | - | - | | dbVar:nssv7487024,dbVar:nsv1197374 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3255T>A (p.Pro1085=) | 1287 | COL4A5 | Benign | 104886230 | RCV000021491; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898569 | 107898569 | NM_000495.4:c.3255T>A | NP_000486.1:p.Pro1085= | NC_000023.10:g.107898569T>A | ARUP_COL4A5:NM_000495.3:c.3255T>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3256G>C (p.Gly1086Arg) | 1287 | COL4A5 | Pathogenic | 104886231 | RCV000021492; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898570 | 107898570 | NM_000495.4:c.3256G>C | NP_000486.1:p.Gly1086Arg | NC_000023.10:g.107898570G>C | ARUP_COL4A5:NM_000495.3:c.3256G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3257G>A (p.Gly1086Asp) | 1287 | COL4A5 | Pathogenic | 104886232 | RCV000021493; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898571 | 107898571 | NM_000495.4:c.3257G>A | NP_000486.1:p.Gly1086Asp | NC_000023.10:g.107898571G>A | ARUP_COL4A5:NM_000495.3:c.3257G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3289A>T (p.Lys1097Ter) | 1287 | COL4A5 | Pathogenic | 104886233 | RCV000021494; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898603 | 107898603 | NM_000495.4:c.3289A>T | NP_000486.1:p.Lys1097Ter | NC_000023.10:g.107898603A>T | ARUP_COL4A5:NM_000495.3:c.3289A>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3311G>T (p.Gly1104Val) | 1287 | COL4A5 | Pathogenic | 104886224 | RCV000021495; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898625 | 107898625 | NM_000495.4:c.3311G>T | NP_000486.1:p.Gly1104Val | NC_000023.10:g.107898625G>T | ARUP_COL4A5:NM_000495.3:c.3311G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3319G>A (p.Gly1107Arg) | 1287 | COL4A5 | Pathogenic | 104886225 | RCV000021496; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898633 | 107898633 | NM_000495.4:c.3319G>A | NP_000486.1:p.Gly1107Arg | NC_000023.10:g.107898633G>A | ARUP_COL4A5:NM_000495.3:c.3319G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3326_3327insT (p.Gly1110Argfs) | 1287 | COL4A5 | Pathogenic | 397515492 | RCV000021497; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898640 | 107898641 | NM_000495.4:c.3326_3327insT | NP_000486.1:p.Gly1110Argfs | NC_000023.10:g.107898640_107898641insT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3331delA (p.Thr1111Profs) | 1287 | COL4A5 | Pathogenic | 104886226 | RCV000021498; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898645 | 107898645 | NM_000495.4:c.3331delA | NP_000486.1:p.Thr1111Profs | NC_000023.10:g.107898645delA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3334_3337dupCCTG (p.Gly1113Alafs) | 1287 | COL4A5 | Pathogenic | 104886380 | RCV000021499; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898648 | 107898651 | NM_000495.4:c.3334_3337dupCCTG | NP_000486.1:p.Gly1113Alafs | NC_000023.10:g.107898648_107898651dupCCTG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3347G>T (p.Gly1116Val) | 1287 | COL4A5 | Pathogenic | 281874713 | RCV000021500; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898661 | 107898661 | NM_000495.4:c.3347G>T | NP_000486.1:p.Gly1116Val | NC_000023.10:g.107898661G>T | ARUP_COL4A5:NM_000495.3:c.3347G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3373+1G>A | 1287 | COL4A5 | Pathogenic | 281874714 | RCV000021501; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898688 | 107898688 | NM_000495.4:c.3373+1G>A | | NC_000023.10:g.107898688G>A | ARUP_COL4A5:NM_000495.3:c.3373+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3374-?_3790+?del | 1287 | COL4A5 | Pathogenic | -1 | RCV000021503; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107898688 | 107913457 | NM_000495.4:c.3374-?_3790+?del | | | COL4A5 homepage - Collagen, type IV, alpha:COL4A5_00393 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3374-11C>A | 1287 | COL4A5 | Pathogenic | 104886387 | RCV000021502; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107908726 | 107908726 | NM_000495.4:c.3374-11C>A | | NC_000023.10:g.107908726C>A | ARUP_COL4A5:NM_000495.3:c.3374-11C>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3403_3418del16ins3 | 1287 | COL4A5 | Pathogenic | 672601246 | RCV000021507; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107908766 | 107908781 | NM_000495.4:c.3403_3418del16ins3 | | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3413delC (p.Pro1138Leufs) | 1287 | COL4A5 | Pathogenic | 104886227 | RCV000021508; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107908776 | 107908776 | NM_000495.4:c.3413delC | NP_000486.1:p.Pro1138Leufs | NC_000023.10:g.107908776delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3427G>A (p.Gly1143Ser) | 1287 | COL4A5 | Pathogenic | 104886228 | RCV000021509; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107908790 | 107908790 | NM_000495.4:c.3427G>A | NP_000486.1:p.Gly1143Ser | NC_000023.10:g.107908790G>A | ARUP_COL4A5:NM_000495.3:c.3427G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3428G>A (p.Gly1143Asp) | 1287 | COL4A5 | Pathogenic | 104886229 | RCV000011204; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107908791 | 107908791 | NM_000495.4:c.3428G>A | NP_000486.1:p.Gly1143Asp | NC_000023.10:g.107908791G>A | ARUP_COL4A5:NM_000495.3:c.3428G>A,OMIM Allelic Variant:303630.0006 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3454+1G>T | 1287 | COL4A5 | Pathogenic | 281874715 | RCV000021511; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107908818 | 107908818 | NM_000495.4:c.3454+1G>T | | NC_000023.10:g.107908818G>T | ARUP_COL4A5:NM_000495.3:c.3454+1G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3455-9A>G | 1287 | COL4A5 | Pathogenic | 104886388 | RCV000021512; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909717 | 107909717 | NM_000495.4:c.3455-9A>G | | NC_000023.10:g.107909717A>G | ARUP_COL4A5:NM_000495.3:c.3455-9A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3472G>T (p.Gly1158Trp) | 1287 | COL4A5 | Pathogenic | 104886389 | RCV000021513; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909743 | 107909743 | NM_000495.4:c.3472G>T | NP_000486.1:p.Gly1158Trp | NC_000023.10:g.107909743G>T | ARUP_COL4A5:NM_000495.3:c.3472G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3474delG (p.Gln1159Asnfs) | 1287 | COL4A5 | Pathogenic | 104886234 | RCV000021514; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909745 | 107909745 | NM_000495.4:c.3474delG | NP_000486.1:p.Gln1159Asnfs | NC_000023.10:g.107909745delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3481G>A (p.Gly1161Arg) | 1287 | COL4A5 | Pathogenic | 104886235 | RCV000021515; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909752 | 107909752 | NM_000495.4:c.3481G>A | NP_000486.1:p.Gly1161Arg | NC_000023.10:g.107909752G>A | ARUP_COL4A5:NM_000495.3:c.3481G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3499G>A (p.Gly1167Ser) | 1287 | COL4A5 | Pathogenic | 104886236 | RCV000021516; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909770 | 107909770 | NM_000495.4:c.3499G>A | NP_000486.1:p.Gly1167Ser | NC_000023.10:g.107909770G>A | ARUP_COL4A5:NM_000495.3:c.3499G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3508G>A (p.Gly1170Ser) | 1287 | COL4A5 | Pathogenic | 104886237 | RCV000021517; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909779 | 107909779 | NM_000495.4:c.3508G>A | NP_000486.1:p.Gly1170Ser | NC_000023.10:g.107909779G>A | ARUP_COL4A5:NM_000495.3:c.3508G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3509delG (p.Gly1170Valfs) | 1287 | COL4A5 | Pathogenic | 104886238 | RCV000021518; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909780 | 107909780 | NM_000495.4:c.3509delG | NP_000486.1:p.Gly1170Valfs | NC_000023.10:g.107909780delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3513A>G (p.Gln1171=) | 1287 | COL4A5 | Benign | 2273051 | RCV000021519; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909784 | 107909784 | NM_000495.4:c.3513A>G | NP_000486.1:p.Gln1171= | NC_000023.10:g.107909784A>G | ARUP_COL4A5:NM_000495.3:c.3513A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3527delG (p.Gly1176Aspfs) | 1287 | COL4A5 | Pathogenic | 104886239 | RCV000021520; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909798 | 107909798 | NM_000495.4:c.3527delG | NP_000486.1:p.Gly1176Aspfs | NC_000023.10:g.107909798delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3535G>A (p.Gly1179Arg) | 1287 | COL4A5 | Pathogenic | 104886240 | RCV000021521; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909806 | 107909806 | NM_000495.4:c.3535G>A | NP_000486.1:p.Gly1179Arg | NC_000023.10:g.107909806G>A | ARUP_COL4A5:NM_000495.3:c.3535G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3538C>T (p.Gln1180Ter) | 1287 | COL4A5 | Pathogenic | 104886241 | RCV000021522; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909809 | 107909809 | NM_000495.4:c.3538C>T | NP_000486.1:p.Gln1180Ter | NC_000023.10:g.107909809C>T | ARUP_COL4A5:NM_000495.3:c.3538C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3543_3549delGGGTGAA (p.Lys1181Asnfs) | 1287 | COL4A5 | Pathogenic | 281874716 | RCV000021523; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909814 | 107909820 | NM_000495.4:c.3543_3549delGGGTGAA | NP_000486.1:p.Lys1181Asnfs | NC_000023.10:g.107909814_107909820delGGGTGAA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3544G>C (p.Gly1182Arg) | 1287 | COL4A5 | Pathogenic | 104886242 | RCV000021524; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909815 | 107909815 | NM_000495.4:c.3544G>C | NP_000486.1:p.Gly1182Arg | NC_000023.10:g.107909815G>C | ARUP_COL4A5:NM_000495.3:c.3544G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
COL4A5:c.3554-?_3604+?del (p.?) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021528; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107909825 | 107911548 | NM_000495.4:c.3554-?_3604+?del | | | dbVar:nssv7487025,dbVar:nsv1197375 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3554-9C>G | 1287 | COL4A5 | Pathogenic | 104886383 | RCV000021525; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107910354 | 107910354 | NM_000495.4:c.3554-9C>G | | NC_000023.10:g.107910354C>G | ARUP_COL4A5:NM_000495.3:c.3554-9C>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3554-3C>G | 1287 | COL4A5 | Pathogenic | 104886382 | RCV000021526; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107910360 | 107910360 | NM_000495.4:c.3554-3C>G | | NC_000023.10:g.107910360C>G | ARUP_COL4A5:NM_000495.3:c.3554-3C>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3554-1G>A | 1287 | COL4A5 | Pathogenic | 104886381 | RCV000021527; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107910362 | 107910362 | NM_000495.4:c.3554-1G>A | | NC_000023.10:g.107910362G>A | ARUP_COL4A5:NM_000495.3:c.3554-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3582C>T (p.Pro1194=) | 1287 | COL4A5 | Benign | 104886243 | RCV000021529; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107910391 | 107910391 | NM_000495.4:c.3582C>T | NP_000486.1:p.Pro1194= | NC_000023.10:g.107910391C>T | ARUP_COL4A5:NM_000495.3:c.3582C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3586G>A (p.Gly1196Arg) | 1287 | COL4A5 | Pathogenic | 104886244 | RCV000021530; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107910395 | 107910395 | NM_000495.4:c.3586G>A | NP_000486.1:p.Gly1196Arg | NC_000023.10:g.107910395G>A | ARUP_COL4A5:NM_000495.3:c.3586G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3587G>A (p.Gly1196Glu) | 1287 | COL4A5 | Pathogenic | 281874717 | RCV000021531; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107910396 | 107910396 | NM_000495.4:c.3587G>A | NP_000486.1:p.Gly1196Glu | NC_000023.10:g.107910396G>A | ARUP_COL4A5:NM_000495.3:c.3587G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3605-2A>G | 1287 | COL4A5 | Pathogenic | 104886385 | RCV000021534; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911547 | 107911547 | NM_000495.4:c.3605-2A>G | | NC_000023.10:g.107911547A>G | ARUP_COL4A5:NM_000495.3:c.3605-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3605-1G>A | 1287 | COL4A5 | Pathogenic | 104886384 | RCV000021535; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911548 | 107911548 | NM_000495.4:c.3605-1G>A | | NC_000023.10:g.107911548G>A | ARUP_COL4A5:NM_000495.3:c.3605-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3613G>T (p.Gly1205Cys) | 1287 | COL4A5 | Pathogenic | 104886245 | RCV000021537; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911557 | 107911557 | NM_000495.4:c.3613G>T | NP_000486.1:p.Gly1205Cys | NC_000023.10:g.107911557G>A,NC_000023.10:g.107911557G>T | ARUP_COL4A5:NM_000495.3:c.3613G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3613G>A (p.Gly1205Ser) | 1287 | COL4A5 | Pathogenic | 104886245 | RCV000021538; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911557 | 107911557 | NM_000495.4:c.3613G>A | NP_000486.1:p.Gly1205Ser | NC_000023.10:g.107911557G>A,NC_000023.10:g.107911557G>T | ARUP_COL4A5:NM_000495.3:c.3613G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3631G>C (p.Gly1211Arg) | 1287 | COL4A5 | Pathogenic | 104886246 | RCV000021540; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911575 | 107911575 | NM_000495.4:c.3631G>C | NP_000486.1:p.Gly1211Arg | NC_000023.10:g.107911575G>C | ARUP_COL4A5:NM_000495.3:c.3631G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3632G>A (p.Gly1211Glu) | 1287 | COL4A5 | Pathogenic | 104886247 | RCV000021541; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911576 | 107911576 | NM_000495.4:c.3632G>A | NP_000486.1:p.Gly1211Glu | NC_000023.10:g.107911576G>A | ARUP_COL4A5:NM_000495.3:c.3632G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3641G>A (p.Gly1214Glu) | 1287 | COL4A5 | Pathogenic | 104886248 | RCV000021542; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911585 | 107911585 | NM_000495.4:c.3641G>A | NP_000486.1:p.Gly1214Glu | NC_000023.10:g.107911585G>A | ARUP_COL4A5:NM_000495.3:c.3641G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3647delC (p.Pro1216Leufs) | 1287 | COL4A5 | Pathogenic | 104886249 | RCV000021543; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911591 | 107911591 | NM_000495.4:c.3647delC | NP_000486.1:p.Pro1216Leufs | NC_000023.10:g.107911591delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3657_3728del72 (p.Lys1222_Pro1245del) | 1287 | COL4A5 | Pathogenic | 104886391 | RCV000021544; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911601 | 107911672 | NM_000495.4:c.3657_3728del72 | NP_000486.1:p.Lys1222_Pro1245del | NC_000023.10:g.107911601_107911672del72 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3659G>A (p.Gly1220Asp) | 1287 | COL4A5 | Pathogenic | 104886251 | RCV000021545; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911603 | 107911603 | NM_000495.4:c.3659G>A | NP_000486.1:p.Gly1220Asp | NC_000023.10:g.107911603G>A | ARUP_COL4A5:NM_000495.3:c.3659G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3668G>T (p.Gly1223Val) | 1287 | COL4A5 | Pathogenic | 104886252 | RCV000021546; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911612 | 107911612 | NM_000495.4:c.3668G>T | NP_000486.1:p.Gly1223Val | NC_000023.10:g.107911612G>T | ARUP_COL4A5:NM_000495.3:c.3668G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3686G>A (p.Gly1229Asp) | 1287 | COL4A5 | Pathogenic | 104886253 | RCV000021547; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911630 | 107911630 | NM_000495.4:c.3686G>A | NP_000486.1:p.Gly1229Asp | NC_000023.10:g.107911630G>A | ARUP_COL4A5:NM_000495.3:c.3686G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3692delC (p.Pro1231Leufs) | 1287 | COL4A5 | Pathogenic | 104886254 | RCV000021548; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911636 | 107911636 | NM_000495.4:c.3692delC | NP_000486.1:p.Pro1231Leufs | NC_000023.10:g.107911636delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3692dupC (p.Gly1232Trpfs) | 1287 | COL4A5 | Pathogenic | 281874718 | RCV000021549; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911636 | 107911636 | NM_000495.4:c.3692dupC | NP_000486.1:p.Gly1232Trpfs | NC_000023.10:g.107911636dupC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3694G>A (p.Gly1232Ser) | 1287 | COL4A5 | Pathogenic | 104886250 | RCV000021550; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911638 | 107911638 | NM_000495.4:c.3694G>A | NP_000486.1:p.Gly1232Ser | NC_000023.10:g.107911638G>A | ARUP_COL4A5:NM_000495.3:c.3694G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3700C>T (p.Gln1234Ter) | 1287 | COL4A5 | Pathogenic | 281874719 | RCV000021551; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911644 | 107911644 | NM_000495.4:c.3700C>T | NP_000486.1:p.Gln1234Ter | NC_000023.10:g.107911644C>T | ARUP_COL4A5:NM_000495.3:c.3700C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3706_3722del17insT (p.Pro1236Phefs) | 1287 | COL4A5 | Pathogenic | 281874720 | RCV000021552; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911650 | 107911666 | NM_000495.4:c.3706_3722del17insT | NP_000486.1:p.Pro1236Phefs | NC_000023.10:g.107911650_107911666del17insT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3709_3710dupCC (p.Gly1238Glnfs) | 1287 | COL4A5 | Pathogenic | 104886392 | RCV000021554; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911653 | 107911654 | NM_000495.4:c.3709_3710dupCC | NP_000486.1:p.Gly1238Glnfs | NC_000023.10:g.107911653_107911654dupCC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3710_3761del52 (p.Pro1237Leufs) | 1287 | COL4A5 | Pathogenic | 104886393 | RCV000021553; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911654 | 107911705 | NM_000495.4:c.3710_3761del52 | NP_000486.1:p.Pro1237Leufs | NC_000023.10:g.107911654_107911705del52 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3721G>T (p.Gly1241Cys) | 1287 | COL4A5 | Pathogenic | 104886255 | RCV000021555; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911665 | 107911665 | NM_000495.4:c.3721G>T | NP_000486.1:p.Gly1241Cys | NC_000023.10:g.107911665G>T | ARUP_COL4A5:NM_000495.3:c.3721G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3722G>T (p.Gly1241Val) | 1287 | COL4A5 | Pathogenic | 281874721 | RCV000021556; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911666 | 107911666 | NM_000495.4:c.3722G>T | NP_000486.1:p.Gly1241Val | NC_000023.10:g.107911666G>T | ARUP_COL4A5:NM_000495.3:c.3722G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3731G>A (p.Gly1244Asp) | 1287 | COL4A5 | Pathogenic | 104886261 | RCV000021557; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911675 | 107911675 | NM_000495.4:c.3731G>A | NP_000486.1:p.Gly1244Asp | NC_000023.10:g.107911675G>A | ARUP_COL4A5:NM_000495.3:c.3731G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3754G>A (p.Gly1252Ser) | 1287 | COL4A5 | Pathogenic | 104886262 | RCV000021558; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911698 | 107911698 | NM_000495.4:c.3754G>A | NP_000486.1:p.Gly1252Ser | NC_000023.10:g.107911698G>A | ARUP_COL4A5:NM_000495.3:c.3754G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3754_3757dupGGCA (p.Asn1253Argfs) | 1287 | COL4A5 | Pathogenic | 104886394 | RCV000021559; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911698 | 107911701 | NM_000495.4:c.3754_3757dupGGCA | NP_000486.1:p.Asn1253Argfs | NC_000023.10:g.107911698_107911701dupGGCA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3763G>A (p.Gly1255Arg) | 1287 | COL4A5 | Pathogenic | 104886263 | RCV000021560; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911707 | 107911707 | NM_000495.4:c.3763G>A | NP_000486.1:p.Gly1255Arg | NC_000023.10:g.107911707G>A | ARUP_COL4A5:NM_000495.3:c.3763G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3782G>A (p.Gly1261Glu) | 1287 | COL4A5 | Pathogenic | 104886264 | RCV000021561; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911726 | 107911726 | NM_000495.4:c.3782G>A | NP_000486.1:p.Gly1261Glu | NC_000023.10:g.107911726G>A | ARUP_COL4A5:NM_000495.3:c.3782G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3790+1delG | 1287 | COL4A5 | Pathogenic | 104886256 | RCV000021562; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107911735 | 107911735 | NM_000495.4:c.3790+1delG | | NC_000023.10:g.107911735delG | ARUP_COL4A5:NM_000495.3:c.3790+1delG | C1567742 301050 Alport syndrome, X-linked recessive | | |
COL4A5:c.3791-?_3924+?del (p.?) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021563; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107917984 | 107923908 | NM_000495.4:c.(3791_3791)-2746_(3924_3924)del | | | dbVar:nssv7487026,dbVar:nsv1197376 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3808G>A (p.Gly1270Ser) | 1287 | COL4A5 | Pathogenic | 104886257 | RCV000021564; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107920747 | 107920747 | NM_000495.4:c.3808G>A | NP_000486.1:p.Gly1270Ser | NC_000023.10:g.107920747G>A | ARUP_COL4A5:NM_000495.3:c.3808G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3814delC (p.Pro1272Glnfs) | 1287 | COL4A5 | Pathogenic | 104886258 | RCV000021565; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107920753 | 107920753 | NM_000495.4:c.3814delC | NP_000486.1:p.Pro1272Glnfs | NC_000023.10:g.107920753delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3866_3869dupAACC (p.Gly1291Thrfs) | 1287 | COL4A5 | Pathogenic | 606231370 | RCV000021566; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107920805 | 107920808 | NM_000495.4:c.3866_3869dupAACC | NP_000486.1:p.Gly1291Thrfs | NC_000023.10:g.107920805_107920808dupAACC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3920delT (p.Leu1307Profs) | 1287 | COL4A5 | Pathogenic | 104886259 | RCV000021567; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107920859 | 107920859 | NM_000495.4:c.3920delT | NP_000486.1:p.Leu1307Profs | NC_000023.10:g.107920859delT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3924G>C (p.Gln1308His) | 1287 | COL4A5 | Pathogenic | 281874724 | RCV000021568; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107920863 | 107920863 | NM_000495.4:c.3924G>C | NP_000486.1:p.Gln1308His | NC_000023.10:g.107920863G>C | ARUP_COL4A5:NM_000495.3:c.3924G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.3942+1G>C (p.?) | 1287 | COL4A5 | Pathogenic | 483352870 | RCV000021569; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107920864 | 107920864 | NM_033380.2:c.3942+1G>C | NP_203699.1:p.? | NC_000023.10:g.107920864G>C | ARUP_COL4A5:NM_000495.3:c.3924+1G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3925-2A>G | 1287 | COL4A5 | Pathogenic | 587776400 | RCV000021570; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107923907 | 107923907 | NM_000495.4:c.3925-2A>G | | X:g.107923907A>G | ARUP_COL4A5:NM_000495.3:c.3925-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3925-1G>A | 1287 | COL4A5 | Pathogenic | 281874725 | RCV000021571; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107923908 | 107923908 | NM_000495.4:c.3925-1G>A | | NC_000023.10:g.107923908G>A | ARUP_COL4A5:NM_000495.3:c.3925-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3958A>T (p.Lys1320Ter) | 1287 | COL4A5 | Pathogenic | 104886260 | RCV000021573; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107923942 | 107923942 | NM_000495.4:c.3958A>T | NP_000486.1:p.Lys1320Ter | NC_000023.10:g.107923942A>T | ARUP_COL4A5:NM_000495.3:c.3958A>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3992delT (p.Phe1331Serfs) | 1287 | COL4A5 | Pathogenic | 104886265 | RCV000021574; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107923976 | 107923976 | NM_000495.4:c.3992delT | NP_000486.1:p.Phe1331Serfs | NC_000023.10:g.107923976delT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3997G>A (p.Gly1333Ser) | 1287 | COL4A5 | Pathogenic | 104886266 | RCV000021575; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107923981 | 107923981 | NM_000495.4:c.3997G>A | NP_000486.1:p.Gly1333Ser | NC_000023.10:g.107923981G>A | ARUP_COL4A5:NM_000495.3:c.3997G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3998-2A>T | 1287 | COL4A5 | Pathogenic | 104886397 | RCV000021576; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107924113 | 107924113 | NM_000495.4:c.3998-2A>T | | NC_000023.10:g.107924113A>G,NC_000023.10:g.107924113A>T | ARUP_COL4A5:NM_000495.3:c.3998-2A>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3998-2A>G | 1287 | COL4A5 | Pathogenic | 104886397 | RCV000021577; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107924113 | 107924113 | NM_000495.4:c.3998-2A>G | | NC_000023.10:g.107924113A>G,NC_000023.10:g.107924113A>T | ARUP_COL4A5:NM_000495.3:c.3998-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.3998-1G>A | 1287 | COL4A5 | Pathogenic | 797045035 | RCV000191073; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107924114 | 107924114 | NM_000495.4:c.3998-1G>A | | NC_000023.10:g.107924114G>A | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4006G>T (p.Gly1336Ter) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021578; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107924123 | 107924123 | NM_000495.4:c.4006G>T | NP_000486.1:p.Gly1336Ter | X:g.107924123G>T | ARUP_COL4A5:NM_000495.3:c.4006G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4069G>A (p.Gly1357Ser) | 1287 | COL4A5 | Pathogenic | 104886267 | RCV000021580; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107924186 | 107924186 | NM_000495.4:c.4069G>A | NP_000486.1:p.Gly1357Ser | NC_000023.10:g.107924186G>A | ARUP_COL4A5:NM_000495.3:c.4069G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4069+1G>A | 1287 | COL4A5 | Pathogenic | 587776401 | RCV000021581; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107924187 | 107924187 | NM_000495.4:c.4069+1G>A | | NC_000023.10:g.107924187G>A | ARUP_COL4A5:NM_000495.3:c.4069+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4071delT (p.Pro1358Leufs) | 1287 | COL4A5 | Pathogenic | 104886268 | RCV000021583; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107924991 | 107924991 | NM_000495.4:c.4071delT | NP_000486.1:p.Pro1358Leufs | NC_000023.10:g.107924991delT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4102_4103delAG (p.Ser1368Tyrfs) | 1287 | COL4A5 | Pathogenic | 104886403 | RCV000021584; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107925022 | 107925023 | NM_000495.4:c.4102_4103delAG | NP_000486.1:p.Ser1368Tyrfs | NC_000023.10:g.107925022_107925023delAG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4136G>T (p.Gly1379Val) | 1287 | COL4A5 | Pathogenic | 104886269 | RCV000021585; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107925056 | 107925056 | NM_000495.4:c.4136G>T | NP_000486.1:p.Gly1379Val | NC_000023.10:g.107925056G>T | ARUP_COL4A5:NM_000495.3:c.4136G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4147C>T (p.Gln1383Ter) | 1287 | COL4A5 | Pathogenic | 281874727 | RCV000021586; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107925067 | 107925067 | NM_000495.4:c.4147C>T | NP_000486.1:p.Gln1383Ter | NC_000023.10:g.107925067C>T | ARUP_COL4A5:NM_000495.3:c.4147C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4161_4162insTCCT (p.Gly1388Serfs) | 1287 | COL4A5 | Pathogenic | 606231371 | RCV000021587; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107925081 | 107925082 | NM_000495.4:c.4161_4162insTCCT | NP_000486.1:p.Gly1388Serfs | NC_000023.10:g.107925081_107925082insTCCT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4171G>T (p.Gly1391Ter) | 1287 | COL4A5 | Pathogenic | 281874728 | RCV000021588; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107925091 | 107925091 | NM_000495.4:c.4171G>T | NP_000486.1:p.Gly1391Ter | NC_000023.10:g.107925091G>T | ARUP_COL4A5:NM_000495.3:c.4171G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4177C>T (p.Gln1393Ter) | 1287 | COL4A5 | Pathogenic | 104886405 | RCV000021590; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107925097 | 107925097 | NM_000495.4:c.4177C>T | NP_000486.1:p.Gln1393Ter | NC_000023.10:g.107925097C>T | ARUP_COL4A5:NM_000495.3:c.4177C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4177delC (p.Gln1393Lysfs) | 1287 | COL4A5 | Pathogenic | 281874729 | RCV000021591; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107925097 | 107925097 | NM_000495.4:c.4177delC | NP_000486.1:p.Gln1393Lysfs | NC_000023.10:g.107925097delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4196dupC (p.Gly1400Argfs) | 1287 | COL4A5 | Pathogenic | 104886409 | RCV000021592; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107925116 | 107925116 | NM_000495.4:c.4196dupC | NP_000486.1:p.Gly1400Argfs | NC_000023.10:g.107925116dupC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4199-1G>A | 1287 | COL4A5 | Pathogenic | 587776402 | RCV000021593; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929260 | 107929260 | NM_000495.4:c.4199-1G>A | | X:g.107929260G>A | ARUP_COL4A5:NM_000495.3:c.4199-1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4214dupC (p.Gly1406Argfs) | 1287 | COL4A5 | Pathogenic | 281874731 | RCV000021596; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929276 | 107929276 | NM_000495.4:c.4214dupC | NP_000486.1:p.Gly1406Argfs | NC_000023.10:g.107929276dupC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4228C>T (p.Arg1410Cys) | 1287 | COL4A5 | Pathogenic | 104886270 | RCV000021597; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929290 | 107929290 | NM_000495.4:c.4228C>T | NP_000486.1:p.Arg1410Cys | NC_000023.10:g.107929290C>T | ARUP_COL4A5:NM_000495.3:c.4228C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4235delG (p.Gly1412Aspfs) | 1287 | COL4A5 | Pathogenic | 281874732 | RCV000032082; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929297 | 107929297 | NM_000495.4:c.4235delG | NP_000486.1:p.Gly1412Aspfs | NC_000023.10:g.107929297delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4239C>T (p.Leu1413=) | 1287 | COL4A5 | Benign | 104886271 | RCV000021598; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929301 | 107929301 | NM_000495.4:c.4239C>T | NP_000486.1:p.Leu1413= | NC_000023.10:g.107929301C>T | ARUP_COL4A5:NM_000495.3:c.4239C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4261G>T (p.Gly1421Trp) | 1287 | COL4A5 | Pathogenic | 104886272 | RCV000021600; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929323 | 107929323 | NM_000495.4:c.4261G>T | NP_000486.1:p.Gly1421Trp | NC_000023.10:g.107929323G>T | ARUP_COL4A5:NM_000495.3:c.4261G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4264C>T (p.Arg1422Cys) | 1287 | COL4A5 | Pathogenic | 144282156 | RCV000011210; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929326 | 107929326 | NM_000495.4:c.4264C>T | NP_000486.1:p.Arg1422Cys | NC_000023.10:g.107929326C>T | OMIM Allelic Variant:303630.0012 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4271G>A (p.Gly1424Glu) | 1287 | COL4A5 | Pathogenic | 281874733 | RCV000032084; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929333 | 107929333 | NM_000495.4:c.4271G>A | NP_000486.1:p.Gly1424Glu | NC_000023.10:g.107929333G>A | ARUP_COL4A5:NM_000495.3:c.4271G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4275C>T (p.Asp1425=) | 1287 | COL4A5 | Benign | 61746140 | RCV000021601; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929337 | 107929337 | NM_000495.4:c.4275C>T | NP_000486.1:p.Asp1425= | NC_000023.10:g.107929337C>T | ARUP_COL4A5:NM_000495.3:c.4275C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4279G>T (p.Gly1427Cys) | 1287 | COL4A5 | Pathogenic | 104886273 | RCV000021602; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929341 | 107929341 | NM_000495.4:c.4279G>T | NP_000486.1:p.Gly1427Cys | NC_000023.10:g.107929341G>T | ARUP_COL4A5:NM_000495.3:c.4279G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4280G>T (p.Gly1427Val) | 1287 | COL4A5 | Pathogenic | 104886274 | RCV000021603; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929342 | 107929342 | NM_000495.4:c.4280G>T | NP_000486.1:p.Gly1427Val | NC_000023.10:g.107929342G>C,NC_000023.10:g.107929342G>T | ARUP_COL4A5:NM_000495.3:c.4280G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4280G>C (p.Gly1427Ala) | 1287 | COL4A5 | Pathogenic | 104886274 | RCV000032085; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929342 | 107929342 | NM_000495.4:c.4280G>C | NP_000486.1:p.Gly1427Ala | NC_000023.10:g.107929342G>C,NC_000023.10:g.107929342G>T | ARUP_COL4A5:NM_000495.3:c.4280G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4297+1G>A | 1287 | COL4A5 | Pathogenic | 587776403 | RCV000021604; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107929360 | 107929360 | NM_000495.4:c.4297+1G>A | | NC_000023.10:g.107929360G>A | ARUP_COL4A5:NM_000495.3:c.4297+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.4316-1G>C (p.?) | 1287 | COL4A5 | Pathogenic | 281874734 | RCV000021605; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930711 | 107930711 | NM_000495.4:c.4298-1G>C | | NC_000023.10:g.107930711G>C | ARUP_COL4A5:NM_000495.3:c.4298-1G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4298G>T (p.Gly1433Val) | 1287 | COL4A5 | Pathogenic | 281874735 | RCV000032086; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930712 | 107930712 | NM_000495.4:c.4298G>T | NP_000486.1:p.Gly1433Val | NC_000023.10:g.107930712G>T | ARUP_COL4A5:NM_000495.3:c.4298G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4315_4350dup36 (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly) | 1287 | COL4A5 | Pathogenic | 281874736 | RCV000021607; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930729 | 107930764 | NM_000495.4:c.4315_4350dup36 | NP_000486.1:p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly | NC_000023.10:g.107930729_107930764dup36 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4324G>C (p.Gly1442Arg) | 1287 | COL4A5 | Pathogenic | 104886276 | RCV000021608; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930738 | 107930738 | NM_000495.4:c.4324G>C | NP_000486.1:p.Gly1442Arg | NC_000023.10:g.107930738G>C | ARUP_COL4A5:NM_000495.3:c.4324G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4325_4351del27 (p.Asp1444_Pro1452del) | 1287 | COL4A5 | Pathogenic | 104886412 | RCV000021609; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930739 | 107930765 | NM_000495.4:c.4325_4351del27 | NP_000486.1:p.Asp1444_Pro1452del | NC_000023.10:g.107930739_107930765del27 | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4325G>C (p.Gly1442Ala) | 1287 | COL4A5 | Pathogenic | 104886277 | RCV000021611; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930739 | 107930739 | NM_000495.4:c.4325G>C | NP_000486.1:p.Gly1442Ala | NC_000023.10:g.107930739G>A,NC_000023.10:g.107930739G>C | ARUP_COL4A5:NM_000495.3:c.4325G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4325G>A (p.Gly1442Asp) | 1287 | COL4A5 | Pathogenic | 104886277 | RCV000021612; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930739 | 107930739 | NM_000495.4:c.4325G>A | NP_000486.1:p.Gly1442Asp | NC_000023.10:g.107930739G>A,NC_000023.10:g.107930739G>C | ARUP_COL4A5:NM_000495.3:c.4325G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4342G>A (p.Gly1448Ser) | 1287 | COL4A5 | Pathogenic | 104886279 | RCV000021613; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930756 | 107930756 | NM_000495.4:c.4342G>A | NP_000486.1:p.Gly1448Ser | NC_000023.10:g.107930756G>A | ARUP_COL4A5:NM_000495.3:c.4342G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4344_4345insT (p.Pro1449Serfs) | 1287 | COL4A5 | Pathogenic | 104886418 | RCV000021614; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930758 | 107930758 | NM_000495.4:c.4344_4345insT | NP_000486.1:p.Pro1449Serfs | NC_000023.10:g.107930758dupT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4349delC (p.Pro1450Glnfs) | 1287 | COL4A5 | Pathogenic | 104886275 | RCV000021615; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930763 | 107930763 | NM_000495.4:c.4349delC | NP_000486.1:p.Pro1450Glnfs | NC_000023.10:g.107930763delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4351G>A (p.Gly1451Ser) | 1287 | COL4A5 | Pathogenic | 104886280 | RCV000021610; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930765 | 107930765 | NM_000495.4:c.4351G>A | NP_000486.1:p.Gly1451Ser | NC_000023.10:g.107930765G>A | ARUP_COL4A5:NM_000495.3:c.4351G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4436_4437delGA (p.Gly1479Aspfs) | 1287 | COL4A5 | Pathogenic | 104886420 | RCV000021616; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930850 | 107930851 | NM_000495.4:c.4436_4437delGA | NP_000486.1:p.Gly1479Aspfs | NC_000023.10:g.107930850_107930851delGA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4437delA (p.Thr1480Hisfs) | 1287 | COL4A5 | Pathogenic | 104886281 | RCV000021617; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930851 | 107930851 | NM_000495.4:c.4437delA | NP_000486.1:p.Thr1480Hisfs | NC_000023.10:g.107930851delA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4439C>G (p.Thr1480Arg) | 1287 | COL4A5 | Pathogenic | 281874740 | RCV000032087; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930853 | 107930853 | NM_000495.4:c.4439C>G | NP_000486.1:p.Thr1480Arg | NC_000023.10:g.107930853C>G | ARUP_COL4A5:NM_000495.3:c.4439C>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4457G>C (p.Gly1486Ala) | 1287 | COL4A5 | Pathogenic | 104886282 | RCV000021618; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930871 | 107930871 | NM_000495.4:c.4457G>C | NP_000486.1:p.Gly1486Ala | NC_000023.10:g.107930871G>C | ARUP_COL4A5:NM_000495.3:c.4457G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4463C>T (p.Ser1488Phe) | 1287 | COL4A5 | Pathogenic | 104886283 | RCV000021619; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930877 | 107930877 | NM_000495.4:c.4463C>T | NP_000486.1:p.Ser1488Phe | NC_000023.10:g.107930877C>T | ARUP_COL4A5:NM_000495.3:c.4463C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4491_4492delAG (p.Arg1497Serfs) | 1287 | COL4A5 | Pathogenic | 104886421 | RCV000021620; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930905 | 107930906 | NM_000495.4:c.4491_4492delAG | NP_000486.1:p.Arg1497Serfs*17 | NC_000023.10:g.107930905_107930906delAG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4493C>A (p.Ala1498Asp) | 1287 | COL4A5 | Pathogenic | 104886284 | RCV000021621; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930907 | 107930907 | NM_000495.4:c.4493C>A | NP_000486.1:p.Ala1498Asp | NC_000023.10:g.107930907C>A | ARUP_COL4A5:NM_000495.3:c.4493C>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4501C>T (p.Gln1501Ter) | 1287 | COL4A5 | Pathogenic | 281874741 | RCV000021622; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930915 | 107930915 | NM_000495.4:c.4501C>T | NP_000486.1:p.Gln1501Ter | NC_000023.10:g.107930915C>T | ARUP_COL4A5:NM_000495.3:c.4501C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4510+1G>C | 1287 | COL4A5 | Pathogenic | 104886413 | RCV000021624; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107930925 | 107930925 | NM_000495.4:c.4510+1G>C | | NC_000023.10:g.107930925G>C | ARUP_COL4A5:NM_000495.3:c.4510+1G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4513delA (p.Thr1505Argfs) | 1287 | COL4A5 | Pathogenic | 281874742 | RCV000021625; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107935980 | 107935980 | NM_000495.4:c.4513delA | NP_000486.1:p.Thr1505Argfs | NC_000023.10:g.107935980delA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4532G>A (p.Arg1511His) | 1287 | COL4A5 | Uncertain significance | 104886285 | RCV000021627; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107935999 | 107935999 | NM_000495.4:c.4532G>A | NP_000486.1:p.Arg1511His | NC_000023.10:g.107935999G>A | ARUP_COL4A5:NM_000495.3:c.4532G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4549C>A (p.Pro1517Thr) | 1287 | COL4A5 | Pathogenic | 201220208 | RCV000021628; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107936016 | 107936016 | NM_000495.4:c.4549C>A | NP_000486.1:p.Pro1517Thr | NC_000023.10:g.107936016C>A | ARUP_COL4A5:NM_000495.3:c.4549C>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4563C>A (p.Cys1521Ter) | 1287 | COL4A5 | Pathogenic | 104886292 | RCV000021629; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107936030 | 107936030 | NM_000495.4:c.4563C>A | NP_000486.1:p.Cys1521Ter | NC_000023.10:g.107936030C>A | ARUP_COL4A5:NM_000495.3:c.4563C>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4613G>C (p.Trp1538Ser) | 1287 | COL4A5 | Pathogenic | 104886293 | RCV000021630; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107936080 | 107936080 | NM_000495.4:c.4613G>C | NP_000486.1:p.Trp1538Ser | NC_000023.10:g.107936080G>C | ARUP_COL4A5:NM_000495.3:c.4613G>C,OMIM Allelic Variant:303630.0009 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4614G>A (p.Trp1538Ter) | 1287 | COL4A5 | Pathogenic | 104886294 | RCV000021631; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107936081 | 107936081 | NM_000495.4:c.4614G>A | NP_000486.1:p.Trp1538Ter | NC_000023.10:g.107936081G>A | ARUP_COL4A5:NM_000495.3:c.4614G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4675C>G (p.Pro1559Ala) | 1287 | COL4A5 | Benign | 104886295 | RCV000021632; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107936142 | 107936142 | NM_000495.4:c.4675C>G | NP_000486.1:p.Pro1559Ala | NC_000023.10:g.107936142C>G | ARUP_COL4A5:NM_000495.3:c.4675C>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4687C>T (p.Arg1563Ter) | 1287 | COL4A5 | Pathogenic | 104886286 | RCV000021634; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107936154 | 107936154 | NM_000495.4:c.4687C>T | NP_000486.1:p.Arg1563Ter | NC_000023.10:g.107936154C>T | ARUP_COL4A5:NM_000495.3:c.4687C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4688G>A (p.Arg1563Gln) | 1287 | COL4A5 | Pathogenic | 281874743 | RCV000021636; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107936155 | 107936155 | NM_000495.4:c.4688G>A | NP_000486.1:p.Arg1563Gln | NC_000023.10:g.107936155G>A | ARUP_COL4A5:NM_000495.3:c.4688G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4689-30_4689-9del22insCA | 1287 | COL4A5 | Pathogenic | 281874744 | RCV000021637; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938007 | 107938028 | NM_000495.4:c.4689-30_4689-9del22insCA | | NC_000023.10:g.107938007_107938028del22insCA | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.3(COL4A5):c.4707-3_4735del (p.?) | 1287 | COL4A5 | Pathogenic | -1 | RCV000021638; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938034 | 107938065 | NM_033380.2:c.4707-3_4735del32 | NP_203699.1:p.? | | ARUP_COL4A5:NM_000495.3:c.4689-3del32,COL4A5 homepage - Collagen, type IV, alpha:COL4A5_00223 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4690T>C (p.Cys1564Arg) | 1287 | COL4A5 | Pathogenic | 281874745 | RCV000021635; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938038 | 107938038 | NM_000495.4:c.4690T>C | NP_000486.1:p.Cys1564Arg | NC_000023.10:g.107938038T>C | ARUP_COL4A5:NM_000495.3:c.4690T>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4691G>C (p.Cys1564Ser) | 1287 | COL4A5 | Pathogenic | 104886287 | RCV000021640; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938039 | 107938039 | NM_000495.4:c.4691G>C | NP_000486.1:p.Cys1564Ser | NC_000023.10:g.107938039G>C | ARUP_COL4A5:NM_000495.3:c.4691G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4699T>C (p.Cys1567Arg) | 1287 | COL4A5 | Pathogenic | 104886288 | RCV000021641; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938047 | 107938047 | NM_000495.4:c.4699T>C | NP_000486.1:p.Cys1567Arg | NC_000023.10:g.107938047T>C | ARUP_COL4A5:NM_000495.3:c.4699T>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4702G>A (p.Glu1568Lys) | 1287 | COL4A5 | Pathogenic | 281874746 | RCV000021642; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938050 | 107938050 | NM_000495.4:c.4702G>A | NP_000486.1:p.Glu1568Lys | NC_000023.10:g.107938050G>A | ARUP_COL4A5:NM_000495.3:c.4702G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4750_4756delCCCCATT (p.Pro1584Valfs) | 1287 | COL4A5 | Pathogenic | 606231374 | RCV000021643; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938098 | 107938104 | NM_000495.4:c.4750_4756delCCCCATT | NP_000486.1:p.Pro1584Valfs | NC_000023.10:g.107938098_107938104delCCCCATT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4751C>T (p.Pro1584Leu) | 1287 | COL4A5 | Pathogenic | 281874747 | RCV000021644; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938099 | 107938099 | NM_000495.4:c.4751C>T | NP_000486.1:p.Pro1584Leu | NC_000023.10:g.107938099C>T | ARUP_COL4A5:NM_000495.3:c.4751C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4756T>C (p.Cys1586Arg) | 1287 | COL4A5 | Pathogenic | 104886289 | RCV000021645; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938104 | 107938104 | NM_000495.4:c.4756T>C | NP_000486.1:p.Cys1586Arg | NC_000023.10:g.107938104T>C | ARUP_COL4A5:NM_000495.3:c.4756T>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4757G>T (p.Cys1586Phe) | 1287 | COL4A5 | Pathogenic | 104886290 | RCV000021646; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938105 | 107938105 | NM_000495.4:c.4757G>T | NP_000486.1:p.Cys1586Phe | NC_000023.10:g.107938105G>T | ARUP_COL4A5:NM_000495.3:c.4757G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4766G>T (p.Gly1589Val) | 1287 | COL4A5 | Pathogenic | 104886291 | RCV000021647; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938114 | 107938114 | NM_000495.4:c.4766G>T | NP_000486.1:p.Gly1589Val | NC_000023.10:g.107938114G>T | ARUP_COL4A5:NM_000495.3:c.4766G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4768T>G (p.Trp1590Gly) | 1287 | COL4A5 | Pathogenic | 104886296 | RCV000021648; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938116 | 107938116 | NM_000495.4:c.4768T>G | NP_000486.1:p.Trp1590Gly | NC_000023.10:g.107938116T>G | ARUP_COL4A5:NM_000495.3:c.4768T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4780_4781delTG (p.Trp1594Aspfs) | 1287 | COL4A5 | Pathogenic | 281874749 | RCV000032089; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938128 | 107938129 | NM_000495.4:c.4780_4781delTG | NP_000486.1:p.Trp1594Aspfs | NC_000023.10:g.107938128_107938129delTG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4787G>A (p.Gly1596Asp) | 1287 | COL4A5 | Pathogenic | 104886297 | RCV000021649; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938135 | 107938135 | NM_000495.4:c.4787G>A | NP_000486.1:p.Gly1596Asp | NC_000023.10:g.107938135G>A | ARUP_COL4A5:NM_000495.3:c.4787G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4790A>G (p.Tyr1597Cys) | 1287 | COL4A5 | Pathogenic | 104886298 | RCV000021650; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938138 | 107938138 | NM_000495.4:c.4790A>G | NP_000486.1:p.Tyr1597Cys | NC_000023.10:g.107938138A>G | ARUP_COL4A5:NM_000495.3:c.4790A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4791T>A (p.Tyr1597Ter) | 1287 | COL4A5 | Pathogenic | 104886299 | RCV000021651; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938139 | 107938139 | NM_000495.4:c.4791T>A | NP_000486.1:p.Tyr1597Ter | NC_000023.10:g.107938139T>A | ARUP_COL4A5:NM_000495.3:c.4791T>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4803G>A (p.Met1601Ile) | 1287 | COL4A5 | Pathogenic | 104886300 | RCV000021652; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938151 | 107938151 | NM_000495.4:c.4803G>A | NP_000486.1:p.Met1601Ile | NC_000023.10:g.107938151G>A | ARUP_COL4A5:NM_000495.3:c.4803G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4803+1G>A | 1287 | COL4A5 | Pathogenic | 587776404 | RCV000021654; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938152 | 107938152 | NM_000495.4:c.4803+1G>A | | X:g.107938152G>A | ARUP_COL4A5:NM_000495.3:c.4803+1G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4803+121T>C | 1287 | COL4A5 | Pathogenic | 104886423 | RCV000021655; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938272 | 107938272 | NM_000495.4:c.4803+121T>C | | NC_000023.10:g.107938272T>C | ARUP_COL4A5:NM_000495.3:c.4803+121T>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_033380.2(COL4A5):c.4822-151_4822-150insT (p.?) | 1287 | COL4A5 | Pathogenic | 397515494 | RCV000021656; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938346 | 107938347 | NM_033380.2:c.4822-151_4822-150insT | NP_203699.1:p.? | NC_000023.10:g.107938346_107938347insT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4832delG (p.Gly1611Valfs) | 1287 | COL4A5 | Pathogenic | 104886301 | RCV000021657; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938525 | 107938525 | NM_000495.4:c.4832delG | NP_000486.1:p.Gly1611Valfs | NC_000023.10:g.107938525delG | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4894T>G (p.Cys1632Gly) | 1287 | COL4A5 | Pathogenic | 281874750 | RCV000021658; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938587 | 107938587 | NM_000495.4:c.4894T>G | NP_000486.1:p.Cys1632Gly | NC_000023.10:g.107938587T>G | ARUP_COL4A5:NM_000495.3:c.4894T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4913G>A (p.Cys1638Tyr) | 1287 | COL4A5 | Pathogenic | 104886302 | RCV000021659; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938606 | 107938606 | NM_000495.4:c.4913G>A | NP_000486.1:p.Cys1638Tyr | NC_000023.10:g.107938606G>A | ARUP_COL4A5:NM_000495.3:c.4913G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4942dupT (p.Trp1648Leufs) | 1287 | COL4A5 | Pathogenic | 281874751 | RCV000032090; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938635 | 107938635 | NM_000495.4:c.4942dupT | NP_000486.1:p.Trp1648Leufs | NC_000023.10:g.107938635dupT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg) | 1287 | COL4A5 | Pathogenic | 104886303 | RCV000011212; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938639 | 107938639 | NM_000495.4:c.4946T>G | NP_000486.1:p.Leu1649Arg | NC_000023.10:g.107938639T>G | ARUP_COL4A5:NM_000495.3:c.4946T>G,OMIM Allelic Variant:303630.0014 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4968delC (p.Asp1656Glufs) | 1287 | COL4A5 | Pathogenic | 104886304 | RCV000021661; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938661 | 107938661 | NM_000495.4:c.4968delC | NP_000486.1:p.Asp1656Glufs | NC_000023.10:g.107938661delC | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4976G>A (p.Ser1659Asn) | 1287 | COL4A5 | Pathogenic | 104886305 | RCV000021662; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107938669 | 107938669 | NM_000495.4:c.4976G>A | NP_000486.1:p.Ser1659Asn | NC_000023.10:g.107938669G>A | ARUP_COL4A5:NM_000495.3:c.4976G>A | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4977-2A>G | 1287 | COL4A5 | Pathogenic | 281874752 | RCV000021663; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939525 | 107939525 | NM_000495.4:c.4977-2A>G | | NC_000023.10:g.107939525A>G | ARUP_COL4A5:NM_000495.3:c.4977-2A>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.4994_5001delCGCTGAAA (p.Thr1665Serfs) | 1287 | COL4A5 | Pathogenic | 104886426 | RCV000021664; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939544 | 107939551 | NM_000495.4:c.4994_5001delCGCTGAAA | NP_000486.1:p.Thr1665Serfs | | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.5020C>T (p.Arg1674Ter) | 1287 | COL4A5 | Pathogenic | 281874753 | RCV000021665; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939570 | 107939570 | NM_000495.4:c.5020C>T | NP_000486.1:p.Arg1674Ter | NC_000023.10:g.107939570C>T | ARUP_COL4A5:NM_000495.3:c.5020C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.5029C>T (p.Arg1677Ter) | 1287 | COL4A5 | Pathogenic | 104886306 | RCV000021666; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939579 | 107939579 | NM_000495.4:c.5029C>T | NP_000486.1:p.Arg1677Ter | NC_000023.10:g.107939579C>T | ARUP_COL4A5:NM_000495.3:c.5029C>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.5030G>A (p.Arg1677Gln) | 1287 | COL4A5 | Pathogenic | 104886308 | RCV000011213; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939580 | 107939580 | NM_000495.4:c.5030G>A | NP_000486.1:p.Arg1677Gln | NC_000023.10:g.107939580G>A,NC_000023.10:g.107939580G>C,NC_000023.10:g.107939580 | ARUP_COL4A5:NM_000495.3:c.5030G>A,OMIM Allelic Variant:303630.0015 | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.5030G>C (p.Arg1677Pro) | 1287 | COL4A5 | Pathogenic | 104886308 | RCV000021668; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939580 | 107939580 | NM_000495.4:c.5030G>C | NP_000486.1:p.Arg1677Pro | NC_000023.10:g.107939580G>A,NC_000023.10:g.107939580G>C,NC_000023.10:g.107939580 | ARUP_COL4A5:NM_000495.3:c.5030G>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.5030G>T (p.Arg1677Leu) | 1287 | COL4A5 | Pathogenic | 104886308 | RCV000032091; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939580 | 107939580 | NM_000495.4:c.5030G>T | NP_000486.1:p.Arg1677Leu | NC_000023.10:g.107939580G>A,NC_000023.10:g.107939580G>C,NC_000023.10:g.107939580 | ARUP_COL4A5:NM_000495.3:c.5030G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.5032T>C (p.Cys1678Arg) | 1287 | COL4A5 | Pathogenic | 104886310 | RCV000021669; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939582 | 107939582 | NM_000495.4:c.5032T>C | NP_000486.1:p.Cys1678Arg | NC_000023.10:g.107939582T>C | ARUP_COL4A5:NM_000495.3:c.5032T>C | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.5034delT (p.Gln1679Lysfs) | 1287 | COL4A5 | Pathogenic | 104886307 | RCV000021670; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939584 | 107939584 | NM_000495.4:c.5034delT | NP_000486.1:p.Gln1679Lysfs | NC_000023.10:g.107939584delT | - | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.5034T>G (p.Cys1678Trp) | 1287 | COL4A5 | Pathogenic | 104886311 | RCV000021671; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939584 | 107939584 | NM_000495.4:c.5034T>G | NP_000486.1:p.Cys1678Trp | NC_000023.10:g.107939584T>G | ARUP_COL4A5:NM_000495.3:c.5034T>G | C1567742 301050 Alport syndrome, X-linked recessive | | |
NM_000495.4(COL4A5):c.5042G>T (p.Cys1681Phe) | 1287 | COL4A5 | Pathogenic | 281874754 | RCV000021672; | N | MedGen:C1567742,OMIM:301050,ORPHA:88917 | X | 107939592 | 107939592 | NM_000495.4:c.5042G>T | NP_000486.1:p.Cys1681Phe | NC_000023.10:g.107939592G>T | ARUP_COL4A5:NM_000495.3:c.5042G>T | C1567742 301050 Alport syndrome, X-linked recessive | | |