Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000307.4(POU3F4):c.604A>T (p.Lys202Ter) | 5456 | POU3F4 | Pathogenic | 104894920 | RCV000012444; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82763936 | 82763936 | NM_000307.4:c.604A>T | NP_000298.3:p.Lys202Ter | NC_000023.10:g.82763936A>T | OMIM Allelic Variant:300039.0003 | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.651delG (p.Ala218Argfs) | 5456 | POU3F4 | not provided | 267606975 | RCV000144386; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82763983 | 82763983 | NM_000307.4:c.651delG | NP_000298.3:p.Ala218Argfs | NC_000023.10:g.82763983delG | - | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.862_865delAGTG (p.Val289Argfs) | 5456 | POU3F4 | Pathogenic | 730882189 | RCV000012447; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82764194 | 82764197 | NM_000307.4:c.862_865delAGTG | NP_000298.3:p.Val289Argfs | NC_000023.10:g.82764194_82764197delAGTG | OMIM Allelic Variant:300039.0006 | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.896delA (p.Lys299Serfs) | 5456 | POU3F4 | Pathogenic | 267606974 | RCV000144387; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82764227 | 82764227 | NM_000307.4:c.896delA | NP_000298.3:p.Lys299Serfs | NC_000023.10:g.82764227delA | OMIM Allelic Variant:300039.0001 | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.935C>T (p.Ala312Val) | 5456 | POU3F4 | Pathogenic | 387906502 | RCV000012448; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82764267 | 82764267 | NM_000307.4:c.935C>T | NP_000298.3:p.Ala312Val | NC_000023.10:g.82764267C>T | OMIM Allelic Variant:300039.0007 | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.950T>G (p.Leu317Trp) | 5456 | POU3F4 | Pathogenic | 104894921 | RCV000012445; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82764282 | 82764282 | NM_000307.4:c.950T>G | NP_000298.3:p.Leu317Trp | NC_000023.10:g.82764282T>G | OMIM Allelic Variant:300039.0004 | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.950dupT (p.Leu317Phefs) | 5456 | POU3F4 | Pathogenic | 398122516 | RCV000034343; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82764282 | 82764282 | NM_000307.4:c.950dupT | NP_000298.3:p.Leu317Phefs | NC_000023.10:g.82764282dupT | OMIM Allelic Variant:300039.0011 | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.967C>G (p.Arg323Gly) | 5456 | POU3F4 | Pathogenic | 104894924 | RCV000012450; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82764299 | 82764299 | NM_000307.4:c.967C>G | NP_000298.3:p.Arg323Gly | NC_000023.10:g.82764299C>G,NC_000023.10:g.82764299C>T | OMIM Allelic Variant:300039.0009 | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.990A>T (p.Arg330Ser) | 5456 | POU3F4 | Pathogenic | 104894923 | RCV000012449; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82764322 | 82764322 | NM_000307.4:c.990A>T | NP_000298.3:p.Arg330Ser | NC_000023.10:g.82764322A>T | OMIM Allelic Variant:300039.0008 | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.1000A>G (p.Lys334Glu) | 5456 | POU3F4 | Pathogenic | 104894922 | RCV000012446; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82764332 | 82764332 | NM_000307.4:c.1000A>G | NP_000298.3:p.Lys334Glu | NC_000023.10:g.82764332A>G | OMIM Allelic Variant:300039.0005 | C1844678 304400 Deafness, X-linked 2 | | |
NM_000307.4(POU3F4):c.1060delA (p.Thr354Glnfs) | 5456 | POU3F4 | Pathogenic | 398122517 | RCV000034344; | N | MedGen:C1844678,OMIM:304400,ORPHA:3235 | X | 82764392 | 82764392 | NM_000307.4:c.1060delA | NP_000298.3:p.Thr354Glnfs | NC_000023.10:g.82764392delA | OMIM Allelic Variant:300039.0010 | C1844678 304400 Deafness, X-linked 2 | | |