Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NC_000010.11:g.(?_54317271)_(54664277_?)del | -1 | - | Pathogenic | -1 | RCV000151618; | N | MedGen:C1865885,OMIM:602083 | 10 | 56077031 | 56424037 | - | - | | - | C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.5398G>A (p.Val1800Ile) | 65217 | PCDH15 | Benign;Likely benign | 111033463 | RCV000169085; RCV000039758; | N | MedGen:C1865885,OMIM:602083; MedGen:CN169374 | 10 | 55582088 | 55582088 | NM_033056.3:c.5398G>A | NP_149045.3:p.Val1800Ile | NC_000010.10:g.55582088C>T | - | CN169374 not specified; C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) | 65217 | PCDH15 | Benign;Likely benign | 61862390 | RCV000169021; RCV000039757; | N | MedGen:C1865885,OMIM:602083; MedGen:CN169374 | 10 | 55582127 | 55582127 | NM_033056.3:c.5359C>T | NP_149045.3:p.Pro1787Ser | NC_000010.10:g.55582127G>A | - | CN169374 not specified; C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.3717+1G>A | 65217 | PCDH15 | Likely pathogenic | 748706627 | RCV000169489; | N | MedGen:C1865885,OMIM:602083 | 10 | 55626401 | 55626401 | NM_033056.3:c.3717+1G>A | | NC_000010.10:g.55626401C>T | - | C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.3358C>T (p.Arg1120Ter) | 65217 | PCDH15 | Pathogenic | 773404494 | RCV000223562; | N | MedGen:C1865885,OMIM:602083 | 10 | 55698590 | 55698590 | NM_033056.3:c.3358C>T | NP_149045.3:p.Arg1120Ter | NC_000010.10:g.55698590G>A | - | C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.3316C>T (p.Arg1106Ter) | 65217 | PCDH15 | Likely pathogenic;Pathogenic | 202033121 | RCV000039723; | N | MedGen:C1865885,OMIM:602083 | 10 | 55698632 | 55698632 | NM_033056.3:c.3316C>T | NP_149045.3:p.Arg1106Ter | NC_000010.10:g.55698632G>A | - | C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.1998-2A>G | 65217 | PCDH15 | Pathogenic | 397517452 | RCV000039708; | N | MedGen:C1865885,OMIM:602083 | 10 | 55839186 | 55839186 | NM_033056.3:c.1998-2A>G | | NC_000010.10:g.55839186T>C | - | C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.1940C>G (p.Ser647Ter) | 65217 | PCDH15 | Pathogenic | 137853004 | RCV000005224; | N | MedGen:C1865885,OMIM:602083 | 10 | 55849801 | 55849801 | NM_033056.3:c.1940C>G | NP_149045.3:p.Ser647Ter | NC_000010.10:g.55849801G>C | OMIM Allelic Variant:605514.0009 | C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.1927C>T (p.Arg643Ter) | 65217 | PCDH15 | Pathogenic | 727504301 | RCV000154331; | N | MedGen:C1865885,OMIM:602083 | 10 | 55849814 | 55849814 | NM_033056.3:c.1927C>T | NP_149045.3:p.Arg643Ter | NC_000010.10:g.55849814G>A | - | C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.1086delT (p.Leu363Trpfs) | 65217 | PCDH15 | Pathogenic | 199469706 | RCV000005217; | N | MedGen:C1865885,OMIM:602083 | 10 | 55973708 | 55973708 | NM_033056.3:c.1086delT | NP_149045.3:p.Leu363Trpfs | NC_000010.10:g.55973708delA | OMIM Allelic Variant:605514.0003 | C1865885 602083 Usher syndrome, type 1F | | |
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.16delT (p.Tyr6Ilefs) | 65217 | PCDH15 | Pathogenic | 397517451 | RCV000039705; RCV000219366; | N | MedGen:C1568247,OMIM:276900; MedGen:C1865885,OMIM:602083 | 10 | 56424007 | 56424007 | NM_033056.3:c.16delT | NP_149045.3:p.Tyr6Ilefs | NC_000010.10:g.56424007delA | - | C1568247 276900 Usher syndrome, type 1; C1865885 602083 Usher syndrome, type 1F | | |
NM_033056.3(PCDH15):c.7C>T (p.Arg3Ter) | 65217 | PCDH15 | Likely pathogenic;Pathogenic | 137853001 | RCV000005216; | N | MedGen:C1865885,OMIM:602083 | 10 | 56424016 | 56424016 | NM_033056.3:c.7C>T | NP_149045.3:p.Arg3Ter | NC_000010.10:g.56424016G>A | OMIM Allelic Variant:605514.0002 | C1865885 602083 Usher syndrome, type 1F | | |