Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_012338.3(TSPAN12):c.734T>C (p.Leu245Pro) | 23554 | TSPAN12 | Pathogenic | 200519776 | RCV000023997; | N | MedGen:C2750079,OMIM:613310 | 7 | 120428830 | 120428830 | NM_012338.3:c.734T>C | NP_036470.1:p.Leu245Pro | NC_000007.13:g.120428830A>G | OMIM Allelic Variant:613138.0007 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.709G>C (p.Ala237Pro) | 23554 | TSPAN12 | Pathogenic | 267607154 | RCV000000347; | N | MedGen:C2750079,OMIM:613310 | 7 | 120428855 | 120428855 | NM_012338.3:c.709G>C | NP_036470.1:p.Ala237Pro | NC_000007.13:g.120428855C>G | OMIM Allelic Variant:613138.0001 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.562G>C (p.Gly188Arg) | 23554 | TSPAN12 | Pathogenic | 267607151 | RCV000000348; | N | MedGen:C2750079,OMIM:613310 | 7 | 120446653 | 120446653 | NM_012338.3:c.562G>C | NP_036470.1:p.Gly188Arg | NC_000007.13:g.120446653C>G | OMIM Allelic Variant:613138.0002 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.419T>A (p.Leu140Ter) | 23554 | TSPAN12 | Pathogenic | 267607153 | RCV000000350; | N | MedGen:C2750079,OMIM:613310 | 7 | 120450566 | 120450566 | NM_012338.3:c.419T>A | NP_036470.1:p.Leu140Ter | NC_000007.13:g.120450566A>T | OMIM Allelic Variant:613138.0004 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.413A>G (p.Tyr138Cys) | 23554 | TSPAN12 | Pathogenic | 587777283 | RCV000114398; | N | MedGen:C2750079,OMIM:613310 | 7 | 120450572 | 120450572 | NM_012338.3:c.413A>G | NP_036470.1:p.Tyr138Cys | NC_000007.13:g.120450572T>C | OMIM Allelic Variant:613138.0008 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.361-5_361-1delACCAG | 23554 | TSPAN12 | Pathogenic | 794726655 | RCV000000351; | N | MedGen:C2750079,OMIM:613310 | 7 | 120450625 | 120450629 | NM_012338.3:c.361-5_361-1delACCAG | | NC_000007.13:g.120450625_120450629delCTGGT | OMIM Allelic Variant:613138.0005 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.302T>A (p.Leu101His) | 23554 | TSPAN12 | Pathogenic | 267607152 | RCV000000352; | N | MedGen:C2750079,OMIM:613310 | 7 | 120455841 | 120455841 | NM_012338.3:c.302T>A | NP_036470.1:p.Leu101His | NC_000007.13:g.120455841A>T | OMIM Allelic Variant:613138.0006 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.285+1G>A | 23554 | TSPAN12 | Pathogenic | 587777285 | RCV000114401; | N | MedGen:C2750079,OMIM:613310 | 7 | 120478830 | 120478830 | NM_012338.3:c.285+1G>A | | 7:g.120478830C>T | OMIM Allelic Variant:613138.0011 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.212_218dupGCTGTTT (p.Phe73Leufs) | 23554 | TSPAN12 | Pathogenic | 794726654 | RCV000000349; | N | MedGen:C2750079,OMIM:613310 | 7 | 120478898 | 120478904 | NM_012338.3:c.212_218dupGCTGTTT | NP_036470.1:p.Phe73Leufs | NC_000007.13:g.120478898_120478904dupAAACAGC | OMIM Allelic Variant:613138.0003 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.146C>T (p.Thr49Met) | 23554 | TSPAN12 | Pathogenic | 538591733 | RCV000114400; | N | MedGen:C2750079,OMIM:613310 | 7 | 120480084 | 120480084 | NM_012338.3:c.146C>T | NP_036470.1:p.Thr49Met | NC_000007.13:g.120480084G>A | OMIM Allelic Variant:613138.0010 | C2750079 613310 Exudative vitreoretinopathy 5 | | |
NM_012338.3(TSPAN12):c.67-1G>C | 23554 | TSPAN12 | Pathogenic | 587777284 | RCV000114399; | N | MedGen:C2750079,OMIM:613310 | 7 | 120480164 | 120480164 | NM_012338.3:c.67-1G>C | | 7:g.120480164C>G | OMIM Allelic Variant:613138.0009 | C2750079 613310 Exudative vitreoretinopathy 5 | | |