Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter) | 65217 | PCDH15 | Pathogenic | 111033260 | RCV000055970; RCV000005218; RCV000218809; | Y | MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943; MedGen:C1865885,OMIM:602083 | 10 | 56077174 | 56077174 | NM_033056.3:c.733C>T | NP_149045.3:p.Arg245Ter | NC_000010.10:g.56077174G>A | OMIM Allelic Variant:605514.0004 | C1568247 276900 Usher syndrome, type 1; C1865885 602083 Usher syndrome, type 1F; C1847089 606943 Usher syndrome, type 1G | | |
NM_033056.3(PCDH15):c.394dupG (p.Glu132Glyfs) | 65217 | PCDH15 | Pathogenic | 397515566 | RCV000055969; | N | MedGen:C1847089,OMIM:606943 | 10 | 56128960 | 56128960 | NM_033056.3:c.394dupG | NP_149045.3:p.Glu132Glyfs | NC_000010.10:g.56128960dupC | - | C1847089 606943 Usher syndrome, type 1G | | |
NM_173477.4(USH1G):c.1373A>T (p.Asp458Val) | 124590 | USH1G | Likely pathogenic | 397517925 | RCV000041415; | N | MedGen:C1847089,OMIM:606943 | 17 | 72915558 | 72915558 | NM_173477.4:c.1373A>T | NP_775748.2:p.Asp458Val | NC_000017.10:g.72915558T>A | - | C1847089 606943 Usher syndrome, type 1G | | |
NM_173477.4(USH1G):c.832_851del20 (p.Ser278Profs) | 124590 | USH1G | Pathogenic | 397515345 | RCV000003050; RCV000216021; | N | MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943 | 17 | 72916080 | 72916099 | NM_173477.4:c.832_851del20 | NP_775748.2:p.Ser278Profs | NC_000017.10:g.72916080_72916099del20 | OMIM Allelic Variant:607696.0003 | C1568247 276900 Usher syndrome, type 1; C1847089 606943 Usher syndrome, type 1G | | |
NM_173477.4(USH1G):c.394dupG (p.Val132Glyfs) | 124590 | USH1G | Pathogenic | -1 | RCV000003051; RCV000222936; | N | MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943 | 17 | 72916537 | 72916537 | NM_173477.4:c.394dupG | NP_775748.2:p.Val132Glyfs | | OMIM Allelic Variant:607696.0004 | C1568247 276900 Usher syndrome, type 1; C1847089 606943 Usher syndrome, type 1G | | |
NM_173477.4(USH1G):c.186_187delCA (p.Ile63Leufs) | 124590 | USH1G | Pathogenic | 730880268 | RCV000003049; | N | MedGen:C1847089,OMIM:606943 | 17 | 72916744 | 72916745 | NM_173477.4:c.186_187delCA | NP_775748.2:p.Ile63Leufs | NC_000017.10:g.72916744_72916745delTG | OMIM Allelic Variant:607696.0002 | C1847089 606943 Usher syndrome, type 1G | | |
NM_173477.4(USH1G):c.143T>C (p.Leu48Pro) | 124590 | USH1G | Pathogenic | 104894651 | RCV000003048; | N | MedGen:C1847089,OMIM:606943 | 17 | 72919026 | 72919026 | NM_173477.4:c.143T>C | NP_775748.2:p.Leu48Pro | NC_000017.10:g.72919026A>G | OMIM Allelic Variant:607696.0001 | C1847089 606943 Usher syndrome, type 1G | | |
NM_173477.4(USH1G):c.113G>A (p.Trp38Ter) | 124590 | USH1G | Pathogenic | 104894652 | RCV000003052; | N | MedGen:C1847089,OMIM:606943 | 17 | 72919056 | 72919056 | NM_173477.4:c.113G>A | NP_775748.2:p.Trp38Ter | NC_000017.10:g.72919056C>T | OMIM Allelic Variant:607696.0005 | C1847089 606943 Usher syndrome, type 1G | | |