Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_206933.2(USH2A):c.5857+2T>C | -1 | - | Pathogenic | 397518022 | RCV000041870; | N | MedGen:C1848634,OMIM:276901 | 1 | 216246229 | 216246229 | NM_206933.2:c.5857+2T>C | | NC_000001.10:g.216246229A>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.5788C>T (p.Arg1930Ter) | -1 | - | Pathogenic | 397518021 | RCV000041869; | N | MedGen:C1848634,OMIM:276901 | 1 | 216246300 | 216246300 | NM_206933.2:c.5788C>T | NP_996816.2:p.Arg1930Ter | NC_000001.10:g.216246300G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NG_009497.1:g.355301G>A | -1 | - | Pathogenic | -1 | RCV000213465; | N | MedGen:C1848634,OMIM:276901 | 1 | 216246438 | 216246438 | NM_206933.2:c.5776+1G>A | | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.5614delGinsTTAACTTGGCAT (p.Ala1872Leufs) | -1 | - | Likely pathogenic | 869312180 | RCV000210302; | N | MedGen:C1848634,OMIM:276901 | 1 | 216246601 | 216246601 | NM_206933.2:c.5614delGinsTTAACTTGGCAT | NP_996816.2:p.Ala1872Leufs | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.5581G>A (p.Gly1861Ser) | -1 | - | Likely pathogenic | 375668376 | RCV000041861; | N | MedGen:C1848634,OMIM:276901 | 1 | 216246634 | 216246634 | NM_206933.2:c.5581G>A | NP_996816.2:p.Gly1861Ser | NC_000001.10:g.216246634C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?)) | -1 | - | Pathogenic | -1 | RCV000156000; | N | MedGen:C1848634,OMIM:276901 | 1 | 216251431 | 216251704 | NM_206933.2:c.(?_5299)_(5572_?)del | NP_996816.2:p.(?) | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.5167+1G>T | -1 | - | Pathogenic | 794727408 | RCV000176600; | N | MedGen:C1848634,OMIM:276901 | 1 | 216258039 | 216258039 | NM_206933.2:c.5167+1G>T | | NC_000001.10:g.216258039C>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.5001dupA (p.Gly1668Argfs) | -1 | - | Pathogenic | 397518018 | RCV000041852; | N | MedGen:C1848634,OMIM:276901 | 1 | 216258206 | 216258206 | NM_206933.2:c.5001dupA | NP_996816.2:p.Gly1668Argfs | NC_000001.10:g.216258206dupT | - | C1848634 276901 Usher syndrome, type 2A | | |
NC_000001.11:g.(?_216086719)_(216097213_?)del | -1 | - | Pathogenic | -1 | RCV000156001; | N | MedGen:C1848634,OMIM:276901 | 1 | 216260061 | 216270555 | - | - | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_001195263.1(PDZD7):c.166dupC (p.Arg56Profs) | 79955 | PDZD7 | risk factor | 587776894 | RCV000023974; | N | MedGen:C1848634,OMIM:276901 | 10 | 102789811 | 102789811 | NM_001195263.1:c.166dupC | NP_001182192.1:p.Arg56Profs | | OMIM Allelic Variant:612971.0001 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.14911C>T (p.Arg4971Ter) | 7399 | USH2A | Pathogenic | 397517994 | RCV000041772; | N | MedGen:C1848634,OMIM:276901 | 1 | 215813957 | 215813957 | NM_206933.2:c.14911C>T | NP_996816.2:p.Arg4971Ter | NC_000001.10:g.215813957G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.14803C>T (p.Arg4935Ter) | 7399 | USH2A | Pathogenic | 146733615 | RCV000154377; | N | MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 215814065 | 215814065 | NM_206933.2:c.14803C>T | NP_996816.2:p.Arg4935Ter | NC_000001.10:g.215814065G>A | - | C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.14502_14503delTC (p.Pro4835Thrfs) | 7399 | USH2A | Pathogenic | 794727830 | RCV000179668; | N | MedGen:C1848634,OMIM:276901 | 1 | 215821949 | 215821950 | NM_206933.2:c.14502_14503delTC | NP_996816.2:p.Pro4835Thrfs | NC_000001.10:g.215821949_215821950delGA | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.14287G>A (p.Gly4763Arg) | 7399 | USH2A | Likely pathogenic | 397517990 | RCV000041756; | N | MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 215823990 | 215823990 | NM_206933.2:c.14287G>A | NP_996816.2:p.Gly4763Arg | NC_000001.10:g.215823990C>T | - | C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.14248C>T (p.Gln4750Ter) | 7399 | USH2A | Pathogenic | 727504867 | RCV000156228; | N | MedGen:C1848634,OMIM:276901 | 1 | 215824029 | 215824029 | NM_206933.2:c.14248C>T | NP_996816.2:p.Gln4750Ter | NC_000001.10:g.215824029G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.14180G>A (p.Trp4727Ter) | 7399 | USH2A | Pathogenic | 397517989 | RCV000041752; | N | MedGen:C1848634,OMIM:276901 | 1 | 215824097 | 215824097 | NM_206933.2:c.14180G>A | NP_996816.2:p.Trp4727Ter | NC_000001.10:g.215824097C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12295-?_14133+?del | 7399 | USH2A | Likely pathogenic | -1 | RCV000154497; | N | MedGen:C1848634,OMIM:276901 | 1 | 215844314 | 215848958 | NM_206933.2:c.12295-?_14133+?del | | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.14031dupA (p.Ala4678Serfs) | 7399 | USH2A | Pathogenic | 397517988 | RCV000041749; | N | MedGen:C1848634,OMIM:276901 | 1 | 215844416 | 215844416 | NM_206933.2:c.14031dupA | NP_996816.2:p.Ala4678Serfs | NC_000001.10:g.215844416dupT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.13711G>T (p.Glu4571Ter) | 7399 | USH2A | Pathogenic | 751411512 | RCV000216826; | N | MedGen:C1848634,OMIM:276901 | 1 | 215847542 | 215847542 | NM_206933.2:c.13711G>T | NP_996816.2:p.Glu4571Ter | NC_000001.10:g.215847542C>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.13374delA (p.Glu4458Aspfs) | 7399 | USH2A | Pathogenic | 727503715 | RCV000152565; | N | MedGen:C1848634,OMIM:276901 | 1 | 215847879 | 215847879 | NM_206933.2:c.13374delA | NP_996816.2:p.Glu4458Aspfs | NC_000001.10:g.215847879delT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.13316C>T (p.Thr4439Ile) | 7399 | USH2A | Pathogenic | 753330544 | RCV000179630; | N | MedGen:C1848634,OMIM:276901 | 1 | 215847937 | 215847937 | NM_206933.2:c.13316C>T | NP_996816.2:p.Thr4439Ile | NC_000001.10:g.215847937G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.13313G>A (p.Trp4438Ter) | 7399 | USH2A | Likely pathogenic | 111033417 | RCV000041739; | N | MedGen:C1848634,OMIM:276901 | 1 | 215847940 | 215847940 | NM_206933.2:c.13313G>A | NP_996816.2:p.Trp4438Ter | NC_000001.10:g.215847940C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.13130C>A (p.Ser4377Ter) | 7399 | USH2A | Likely pathogenic | 111033385 | RCV000041735; | N | MedGen:C1848634,OMIM:276901 | 1 | 215848123 | 215848123 | NM_206933.2:c.13130C>A | NP_996816.2:p.Ser4377Ter | NC_000001.10:g.215848123G>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.13010C>T (p.Thr4337Met) | 7399 | USH2A | Likely pathogenic;Pathogenic | 527236137 | RCV000132703; | N | MedGen:C1848634,OMIM:276901 | 1 | 215848243 | 215848243 | NM_206933.2:c.13010C>T | NP_996816.2:p.Thr4337Met | NC_000001.10:g.215848243G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12868C>T (p.Gln4290Ter) | 7399 | USH2A | Pathogenic | 397517983 | RCV000041731; | N | MedGen:C1848634,OMIM:276901 | 1 | 215848385 | 215848385 | NM_206933.2:c.12868C>T | NP_996816.2:p.Gln4290Ter | NC_000001.10:g.215848385G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12739G>A (p.Gly4247Arg) | 7399 | USH2A | Likely pathogenic | 397517982 | RCV000041729; | N | MedGen:C1848634,OMIM:276901 | 1 | 215848514 | 215848514 | NM_206933.2:c.12739G>A | NP_996816.2:p.Gly4247Arg | NC_000001.10:g.215848514C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12714T>G (p.Tyr4238Ter) | 7399 | USH2A | Pathogenic | 397517981 | RCV000041728; | N | MedGen:C1848634,OMIM:276901 | 1 | 215848539 | 215848539 | NM_206933.2:c.12714T>G | NP_996816.2:p.Tyr4238Ter | NC_000001.10:g.215848539A>C | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12700A>C (p.Thr4234Pro) | 7399 | USH2A | Likely pathogenic | 577938494 | RCV000221320; | N | MedGen:C1848634,OMIM:276901 | 1 | 215848553 | 215848553 | NM_206933.2:c.12700A>C | NP_996816.2:p.Thr4234Pro | NC_000001.10:g.215848553T>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12295-2A>G | 7399 | USH2A | Pathogenic | 151148854 | RCV000041714; | N | MedGen:C1848634,OMIM:276901 | 1 | 215848960 | 215848960 | NM_206933.2:c.12295-2A>G | | 1:g.215848960T>C | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12295-3T>A | 7399 | USH2A | Pathogenic;Uncertain significance | 111033518 | RCV000179631; RCV000041717; | N | MedGen:C1848634,OMIM:276901; MedGen:CN169374 | 1 | 215848961 | 215848961 | NM_206933.2:c.12295-3T>A | | NC_000001.10:g.215848961A>T | - | CN169374 not specified; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12294+1G>C | 7399 | USH2A | Likely pathogenic | 111033526 | RCV000041716; | N | MedGen:C1848634,OMIM:276901 | 1 | 215853490 | 215853490 | NM_206933.2:c.12294+1G>C | | NC_000001.10:g.215853490C>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12100G>A (p.Glu4034Lys) | 7399 | USH2A | Likely pathogenic | 794729203 | RCV000184023; | N | MedGen:C1848634,OMIM:276901 | 1 | 215853685 | 215853685 | NM_206933.2:c.12100G>A | NP_996816.2:p.Glu4034Lys | NC_000001.10:g.215853685C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12079C>T (p.Gln4027Ter) | 7399 | USH2A | Likely pathogenic | 527236138 | RCV000132702; | N | MedGen:C1848634,OMIM:276901 | 1 | 215853706 | 215853706 | NM_206933.2:c.12079C>T | NP_996816.2:p.Gln4027Ter | NC_000001.10:g.215853706G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12067-1G>C | 7399 | USH2A | Pathogenic | 397517977 | RCV000041711; | N | MedGen:C1848634,OMIM:276901 | 1 | 215853719 | 215853719 | NM_206933.2:c.12067-1G>C | | NC_000001.10:g.215853719C>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.12067-2A>G | 7399 | USH2A | Pathogenic | 397517978 | RCV000041712; | N | MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 215853720 | 215853720 | NM_206933.2:c.12067-2A>G | | NC_000001.10:g.215853720T>C | - | C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11954G>A (p.Trp3985Ter) | 7399 | USH2A | Pathogenic | 397517976 | RCV000041710; | N | MedGen:C1848634,OMIM:276901 | 1 | 215901484 | 215901484 | NM_206933.2:c.11954G>A | NP_996816.2:p.Trp3985Ter | NC_000001.10:g.215901484C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11928G>A (p.Thr3976=) | 7399 | USH2A | Benign;Uncertain significance | 55961436 | RCV000119822; RCV000041708; | N | MedGen:C1848634,OMIM:276901; MedGen:CN169374 | 1 | 215901510 | 215901510 | NM_206933.2:c.11928G>A | NP_996816.2:p.Thr3976= | NC_000001.10:g.215901510C>T | - | CN169374 not specified; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11875_11876delCA (p.Gln3959Asnfs) | 7399 | USH2A | Pathogenic | 779791079 | RCV000179599; RCV000179600; | N | MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 215901562 | 215901563 | NM_206933.2:c.11875_11876delCA | NP_996816.2:p.Gln3959Asnfs | NC_000001.10:g.215901562_215901563delTG | - | C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11864G>A (p.Trp3955Ter) | 7399 | USH2A | Pathogenic | 111033364 | RCV000002451; | N | MedGen:C1848634,OMIM:276901 | 1 | 215901574 | 215901574 | NM_206933.2:c.11864G>A | NP_996816.2:p.Trp3955Ter | NC_000001.10:g.215901574C>T | OMIM Allelic Variant:608400.0007 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11440G>T (p.Gly3814Ter) | 7399 | USH2A | Pathogenic | 727505337 | RCV000156887; | N | MedGen:C1848634,OMIM:276901 | 1 | 215916627 | 215916627 | NM_206933.2:c.11440G>T | NP_996816.2:p.Gly3814Ter | NC_000001.10:g.215916627C>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11411delC (p.Pro3804Leufs) | 7399 | USH2A | Pathogenic | 397517973 | RCV000041696; | N | MedGen:C1848634,OMIM:276901 | 1 | 215916656 | 215916656 | NM_206933.2:c.11411delC | NP_996816.2:p.Pro3804Leufs | NC_000001.10:g.215916656delG | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11231+1G>T | 7399 | USH2A | Likely pathogenic | 111033382 | RCV000041690; | N | MedGen:C1848634,OMIM:276901 | 1 | 215933001 | 215933001 | NM_206933.2:c.11231+1G>T | | NC_000001.10:g.215933001C>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11156G>A (p.Arg3719His) | 7399 | USH2A | Likely pathogenic | 527236139 | RCV000132701; | N | MedGen:C1848634,OMIM:276901 | 1 | 215933077 | 215933077 | NM_206933.2:c.11156G>A | NP_996816.2:p.Arg3719His | NC_000001.10:g.215933077C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11145T>A (p.Tyr3715Ter) | 7399 | USH2A | Pathogenic | 727504608 | RCV000155859; | N | MedGen:C1848634,OMIM:276901 | 1 | 215933088 | 215933088 | NM_206933.2:c.11145T>A | NP_996816.2:p.Tyr3715Ter | NC_000001.10:g.215933088A>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.11048-1G>A | 7399 | USH2A | Pathogenic | 111033414 | RCV000041686; | N | MedGen:C1848634,OMIM:276901 | 1 | 215933186 | 215933186 | NM_206933.2:c.11048-1G>A | | NC_000001.10:g.215933186C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.10759C>T (p.Gln3587Ter) | 7399 | USH2A | Likely pathogenic | 111033418 | RCV000041678; | N | MedGen:C1848634,OMIM:276901 | 1 | 215953365 | 215953365 | NM_206933.2:c.10759C>T | NP_996816.2:p.Gln3587Ter | NC_000001.10:g.215953365G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.10724G>A (p.Cys3575Tyr) | 7399 | USH2A | Likely pathogenic | 111033265 | RCV000041677; | N | MedGen:C1848634,OMIM:276901 | 1 | 215955400 | 215955400 | NM_206933.2:c.10724G>A | NP_996816.2:p.Cys3575Tyr | NC_000001.10:g.215955400C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.10712C>T (p.Thr3571Met) | 7399 | USH2A | Likely pathogenic | 202175091 | RCV000041676; | N | MedGen:C1848634,OMIM:276901 | 1 | 215955412 | 215955412 | NM_206933.2:c.10712C>T | NP_996816.2:p.Thr3571Met | NC_000001.10:g.215955412G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.10561T>C (p.Trp3521Arg) | 7399 | USH2A | Pathogenic | 111033264 | RCV000041673; | N | MedGen:C1848634,OMIM:276901 | 1 | 215956104 | 215956104 | NM_206933.2:c.10561T>C | NP_996816.2:p.Trp3521Arg | NC_000001.10:g.215956104A>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.10450C>T (p.Arg3484Ter) | 7399 | USH2A | Likely pathogenic | 111033379 | RCV000041669; | N | MedGen:C1848634,OMIM:276901 | 1 | 215956215 | 215956215 | NM_206933.2:c.10450C>T | NP_996816.2:p.Arg3484Ter | NC_000001.10:g.215956215G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.10190_10191delAA (p.Lys3397Argfs) | 7399 | USH2A | Pathogenic | 397517964 | RCV000041664; | N | MedGen:C1848634,OMIM:276901 | 1 | 215960208 | 215960209 | NM_206933.2:c.10190_10191delAA | NP_996816.2:p.Lys3397Argfs | NC_000001.10:g.215960208_215960209delTT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr) | 7399 | USH2A | Pathogenic | 148660051 | RCV000190637; RCV000179099; | N | MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 215963510 | 215963510 | NM_206933.2:c.10073G>A | NP_996816.2:p.Cys3358Tyr | NC_000001.10:g.215963510C>T | - | C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.9827C>G (p.Ser3276Ter) | 7399 | USH2A | Likely pathogenic | 863224941 | RCV000200078; | N | MedGen:C1848634,OMIM:276901 | 1 | 215972380 | 215972380 | NM_206933.2:c.9827C>G | NP_996816.2:p.Ser3276Ter | NC_000001.10:g.215972380G>C | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.9799T>C (p.Cys3267Arg) | 7399 | USH2A | Likely pathogenic | 111033263 | RCV000041960; | N | MedGen:C1848634,OMIM:276901 | 1 | 215972408 | 215972408 | NM_206933.2:c.9799T>C | NP_996816.2:p.Cys3267Arg | NC_000001.10:g.215972408A>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NG_009497.1:g.611401G>A | 7399 | USH2A | Pathogenic | 760225886 | RCV000217703; | N | MedGen:C1848634,OMIM:276901 | 1 | 215990338 | 215990338 | NM_206933.2:c.9570+1G>A | | NC_000001.10:g.215990338C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.9459C>A (p.Cys3153Ter) | 7399 | USH2A | Pathogenic | 73090721 | RCV000041954; | N | MedGen:C1848634,OMIM:276901 | 1 | 215990450 | 215990450 | NM_206933.2:c.9459C>A | NP_996816.2:p.Cys3153Ter | NC_000001.10:g.215990450G>A,NC_000001.10:g.215990450G>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.9424G>T (p.Gly3142Ter) | 7399 | USH2A | Pathogenic | 397518048 | RCV000041952; | N | MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 215990485 | 215990485 | NM_206933.2:c.9424G>T | NP_996816.2:p.Gly3142Ter | NC_000001.10:g.215990485C>A | - | C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.9371+1G>C | 7399 | USH2A | Pathogenic | 41308425 | RCV000041950; | N | MedGen:C1848634,OMIM:276901 | 1 | 216011332 | 216011332 | NM_206933.2:c.9371+1G>C | | NC_000001.10:g.216011332C>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.9304C>T (p.Gln3102Ter) | 7399 | USH2A | Pathogenic | 397518046 | RCV000041947; | N | MedGen:C1848634,OMIM:276901 | 1 | 216011400 | 216011400 | NM_206933.2:c.9304C>T | NP_996816.2:p.Gln3102Ter | NC_000001.10:g.216011400G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.9159T>G (p.Tyr3053Ter) | 7399 | USH2A | Pathogenic | 397518042 | RCV000041939; | N | MedGen:C1848634,OMIM:276901 | 1 | 216017735 | 216017735 | NM_206933.2:c.9159T>G | NP_996816.2:p.Tyr3053Ter | NC_000001.10:g.216017735A>C | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.8981G>A (p.Trp2994Ter) | 7399 | USH2A | Pathogenic | 397518041 | RCV000041937; | N | MedGen:C1848634,OMIM:276901 | 1 | 216019240 | 216019240 | NM_206933.2:c.8981G>A | NP_996816.2:p.Trp2994Ter | NC_000001.10:g.216019240C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.8890dupT (p.Trp2964Leufs) | 7399 | USH2A | Pathogenic | 786205116 | RCV000023702; | N | MedGen:C1848634,OMIM:276901 | 1 | 216019331 | 216019331 | NM_206933.2:c.8890dupT | NP_996816.2:p.Trp2964Leufs | NC_000001.10:g.216019331dupA | OMIM Allelic Variant:608400.0015 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.(?_8682)_(8845_?)del (p.(?)) | 7399 | USH2A | Pathogenic | -1 | RCV000156302; | N | MedGen:C1848634,OMIM:276901 | 1 | 216040349 | 216040512 | NM_206933.2:c.(?_8682)_(8845_?)del | NP_996816.2:p.(?) | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.8740C>T (p.Arg2914Ter) | 7399 | USH2A | Pathogenic | 766590491 | RCV000213731; | N | MedGen:C1848634,OMIM:276901 | 1 | 216040454 | 216040454 | NM_206933.2:c.8740C>T | NP_996816.2:p.Arg2914Ter | NC_000001.10:g.216040454G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.8682-9A>G | 7399 | USH2A | Likely pathogenic | 372347027 | RCV000178561; RCV000178560; | N | MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 216040521 | 216040521 | NM_206933.2:c.8682-9A>G | | NC_000001.10:g.216040521T>C | - | C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NG_009497.1:g.550640G>A | 7399 | USH2A | Pathogenic | -1 | RCV000222048; | N | MedGen:C1848634,OMIM:276901 | 1 | 216051099 | 216051099 | NM_206933.2:c.8681+1G>A | | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.8559-2A>G | 7399 | USH2A | Pathogenic | 397518039 | RCV000041930; RCV000132715; | N | MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1848634,OMIM:276901 | 1 | 216051224 | 216051224 | NM_206933.2:c.8559-2A>G | | NC_000001.10:g.216051224T>C | - | C0035334 268000 Retinitis pigmentosa; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.7595-3C>G | 7399 | USH2A | Likely pathogenic | 201657446 | RCV000178475; | N | MedGen:C1848634,OMIM:276901 | 1 | 216062399 | 216062399 | NM_206933.2:c.7595-3C>G | | NC_000001.10:g.216062399G>C | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.7595-2144A>G | 7399 | USH2A | Pathogenic | 786200928 | RCV000023700; | N | MedGen:C1848634,OMIM:276901 | 1 | 216064540 | 216064540 | NM_206933.2:c.7595-2144A>G | | NC_000001.10:g.216064540T>C | OMIM Allelic Variant:608400.0013 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.7475C>A (p.Ser2492Ter) | 7399 | USH2A | Likely pathogenic | 483353056 | RCV000119825; | N | MedGen:C1848634,OMIM:276901 | 1 | 216073536 | 216073536 | NM_206933.2:c.7475C>A | NP_996816.2:p.Ser2492Ter | NC_000001.10:g.216073536G>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.7244C>G (p.Ser2415Ter) | 7399 | USH2A | Pathogenic | 397518029 | RCV000041905; | N | MedGen:C1848634,OMIM:276901 | 1 | 216108014 | 216108014 | NM_206933.2:c.7244C>G | NP_996816.2:p.Ser2415Ter | NC_000001.10:g.216108014G>C | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.6795_6797delATA (p.Glu2265_Tyr2266delinsAsp) | 7399 | USH2A | Likely pathogenic | 727503723 | RCV000152599; | N | MedGen:C1848634,OMIM:276901 | 1 | 216166370 | 216166372 | NM_206933.2:c.6795_6797delATA | NP_996816.2:p.Glu2265_Tyr2266delinsAsp | NC_000001.10:g.216166370_216166372delTAT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.6639delA (p.Lys2213Asnfs) | 7399 | USH2A | Pathogenic | -1 | RCV000217100; | N | MedGen:C1848634,OMIM:276901 | 1 | 216172247 | 216172247 | NM_206933.2:c.6639delA | NP_996816.2:p.Lys2213Asnfs | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.6601C>T (p.Gln2201Ter) | 7399 | USH2A | Pathogenic | 794727579 | RCV000177821; | N | MedGen:C1848634,OMIM:276901 | 1 | 216172285 | 216172285 | NM_206933.2:c.6601C>T | NP_996816.2:p.Gln2201Ter | NC_000001.10:g.216172285G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.6446C>A (p.Pro2149Gln) | 7399 | USH2A | Likely pathogenic | 869312182 | RCV000210323; | N | MedGen:C1848634,OMIM:276901 | 1 | 216173784 | 216173784 | NM_206933.2:c.6446C>A | NP_996816.2:p.Pro2149Gln | NC_000001.10:g.216173784G>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.6398G>A (p.Trp2133Ter) | 7399 | USH2A | Pathogenic | 727503725 | RCV000152604; | N | MedGen:C1848634,OMIM:276901 | 1 | 216173832 | 216173832 | NM_206933.2:c.6398G>A | NP_996816.2:p.Trp2133Ter | NC_000001.10:g.216173832C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.6289_6302delATCTATTCAGGCAG (p.Ile2097Terfs) | 7399 | USH2A | Likely pathogenic | 111033268 | RCV000041884; | N | MedGen:C1848634,OMIM:276901 | 1 | 216219796 | 216219809 | NM_206933.2:c.6289_6302delATCTATTCAGGCAG | NP_996816.2:p.Ile2097Terfs | NC_000001.10:g.216219796_216219809delCTGCCTGAATAGAT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.6224G>A (p.Trp2075Ter) | 7399 | USH2A | Pathogenic | 111033386 | RCV000041880; | N | MedGen:C1848634,OMIM:276901 | 1 | 216219874 | 216219874 | NM_206933.2:c.6224G>A | NP_996816.2:p.Trp2075Ter | NC_000001.10:g.216219874C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.5877delT (p.Ser1961Glnfs) | 7399 | USH2A | Pathogenic | 727505343 | RCV000156895; | N | MedGen:C1848634,OMIM:276901 | 1 | 216243615 | 216243615 | NM_206933.2:c.5877delT | NP_996816.2:p.Ser1961Glnfs | NC_000001.10:g.216243615delA | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.5858-1G>A | 7399 | USH2A | Pathogenic | 397518023 | RCV000041871; | N | MedGen:C1848634,OMIM:276901 | 1 | 216243635 | 216243635 | NM_206933.2:c.5858-1G>A | | NC_000001.10:g.216243635C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.4510dupA (p.Arg1504Lysfs) | 7399 | USH2A | Pathogenic | 727503731 | RCV000152615; | N | MedGen:C1848634,OMIM:276901 | 1 | 216348711 | 216348711 | NM_206933.2:c.4510dupA | NP_996816.2:p.Arg1504Lysfs | NC_000001.10:g.216348711dupT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.4474G>T (p.Glu1492Ter) | 7399 | USH2A | Pathogenic | 869312179 | RCV000210331; | N | MedGen:C1848634,OMIM:276901 | 1 | 216348747 | 216348747 | NM_206933.2:c.4474G>T | NP_996816.2:p.Glu1492Ter | NC_000001.10:g.216348747C>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.4405C>T (p.Gln1469Ter) | 7399 | USH2A | Pathogenic | 797045113 | RCV000190638; | N | MedGen:C1848634,OMIM:276901 | 1 | 216348816 | 216348816 | NM_206933.2:c.4405C>T | NP_996816.2:p.Gln1469Ter | NC_000001.10:g.216348816G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.4338_4339delCT (p.Cys1447Glnfs) | 7399 | USH2A | Pathogenic | 111033367 | RCV000002447; | Y | MedGen:C1848634,OMIM:276901 | 1 | 216363622 | 216363623 | NM_206933.2:c.4338_4339delCT | NP_996816.2:p.Cys1447Glnfs | NC_000001.10:g.216363622_216363623delAG | OMIM Allelic Variant:608400.0003 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.4133_4134dupTC (p.Asn1379Serfs) | 7399 | USH2A | Pathogenic | 397518015 | RCV000041838; | N | MedGen:C1848634,OMIM:276901 | 1 | 216370012 | 216370013 | NM_206933.2:c.4133_4134dupTC | NP_996816.2:p.Asn1379Serfs | NC_000001.10:g.216370012_216370013dupGA | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.3967delA (p.Met1323Terfs) | 7399 | USH2A | Likely pathogenic | 527236136 | RCV000132712; | N | MedGen:C1848634,OMIM:276901 | 1 | 216371771 | 216371771 | NM_206933.2:c.3967delA | NP_996816.2:p.Met1323Terfs | NC_000001.10:g.216371771delT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.3558delT (p.Cys1186Trpfs) | 7399 | USH2A | Pathogenic | 397518014 | RCV000041830; | N | MedGen:C1848634,OMIM:276901 | 1 | 216373222 | 216373222 | NM_206933.2:c.3558delT | NP_996816.2:p.Cys1186Trpfs | NC_000001.10:g.216373222delA | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.3547_3548delAT (p.Ile1183Phefs) | 7399 | USH2A | Pathogenic | 397518013 | RCV000041829; | N | MedGen:C1848634,OMIM:276901 | 1 | 216373232 | 216373233 | NM_206933.2:c.3547_3548delAT | NP_996816.2:p.Ile1183Phefs | NC_000001.10:g.216373232_216373233delAT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.3435delA (p.Val1147Serfs) | 7399 | USH2A | Pathogenic | 397518012 | RCV000041828; | N | MedGen:C1848634,OMIM:276901 | 1 | 216373345 | 216373345 | NM_206933.2:c.3435delA | NP_996816.2:p.Val1147Serfs | NC_000001.10:g.216373345delT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.3407G>A (p.Ser1136Asn) | 7399 | USH2A | Uncertain significance | 483353055 | RCV000119824; | N | MedGen:C1848634,OMIM:276901 | 1 | 216373373 | 216373373 | NM_206933.2:c.3407G>A | NP_996816.2:p.Ser1136Asn | NC_000001.10:g.216373373C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.3367T>C (p.Tyr1123His) | 7399 | USH2A | Likely pathogenic | 794729204 | RCV000184023; | N | MedGen:C1848634,OMIM:276901 | 1 | 216373413 | 216373413 | NM_206933.2:c.3367T>C | NP_996816.2:p.Tyr1123His | NC_000001.10:g.215853685C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.3309C>A (p.Tyr1103Ter) | 7399 | USH2A | Pathogenic | 397518011 | RCV000041825; | N | MedGen:C1848634,OMIM:276901 | 1 | 216380622 | 216380622 | NM_206933.2:c.3309C>A | NP_996816.2:p.Tyr1103Ter | NC_000001.10:g.216380622G>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.3129dupT (p.Val1044Cysfs) | 7399 | USH2A | Pathogenic | 786205115 | RCV000023701; | N | MedGen:C1848634,OMIM:276901 | 1 | 216390757 | 216390757 | NM_206933.2:c.3129dupT | NP_996816.2:p.Val1044Cysfs | NC_000001.10:g.216390757dupA | OMIM Allelic Variant:608400.0014 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.2983C>T (p.Gln995Ter) | 7399 | USH2A | Pathogenic | 527236135 | RCV000132711; | N | MedGen:C1848634,OMIM:276901 | 1 | 216405305 | 216405305 | NM_206933.2:c.2983C>T | NP_996816.2:p.Gln995Ter | NC_000001.10:g.216405305G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.2898delG (p.Thr967Leufs) | 7399 | USH2A | Pathogenic | 397518008 | RCV000002446; | N | MedGen:C1848634,OMIM:276901 | 1 | 216405390 | 216405390 | NM_206933.2:c.2898delG | NP_996816.2:p.Thr967Leufs | NC_000001.10:g.216405390delC | OMIM Allelic Variant:608400.0002 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.2541C>A (p.Cys847Ter) | 7399 | USH2A | Pathogenic | 727503736 | RCV000152630; | N | MedGen:C1848634,OMIM:276901 | 1 | 216420195 | 216420195 | NM_206933.2:c.2541C>A | NP_996816.2:p.Cys847Ter | NC_000001.10:g.216420195G>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) | 7399 | USH2A | Pathogenic | 80338903 | RCV000002445; RCV000191141; RCV000032524; RCV000210326; | N | MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C0854723,SNOMED CT:314407005; MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 216420437 | 216420437 | NM_206933.2:c.2299delG | NP_996816.2:p.Glu767Serfs | NC_000001.10:g.216420437delC | OMIM Allelic Variant:608400.0001 | C0854723 Retinal dystrophy; C0035334 268000 Retinitis pigmentosa; C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) | 7399 | USH2A | Likely pathogenic;Pathogenic;Uncertain significance | 80338902 | RCV000174625; RCV000002450; RCV000032523; RCV000041811; | N | MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 216420460 | 216420460 | NM_206933.2:c.2276G>T | NP_996816.2:p.Cys759Phe | NC_000001.10:g.216420460C>A | OMIM Allelic Variant:608400.0006 | C0035334 268000 Retinitis pigmentosa; C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.2209C>T (p.Arg737Ter) | 7399 | USH2A | Pathogenic | 111033334 | RCV000002456; RCV000002457; | N | MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 216420527 | 216420527 | NM_206933.2:c.2209C>T | NP_996816.2:p.Arg737Ter | NC_000001.10:g.216420527G>A | OMIM Allelic Variant:608400.0011 | C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1992dupT (p.Lys665Terfs) | 7399 | USH2A | Pathogenic | 730880349 | RCV000155748; | N | MedGen:C1848634,OMIM:276901 | 1 | 216424420 | 216424420 | NM_206933.2:c.1992dupT | NP_996816.2:p.Lys665Terfs | NC_000001.10:g.216424420dupA | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1841-2A>G | 7399 | USH2A | Pathogenic | 397518003 | RCV000041799; | N | MedGen:C1848634,OMIM:276901 | 1 | 216462754 | 216462754 | NM_206933.2:c.1841-2A>G | | NC_000001.10:g.216462754T>C | - | C1848634 276901 Usher syndrome, type 2A | | |
NC_000001.11:g.(?_216292175)_(216327654_?)del | 7399 | USH2A | Pathogenic | -1 | RCV000155413; | N | MedGen:C1848634,OMIM:276901 | 1 | 216465517 | 216500996 | - | - | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.(?_1645)_(1840_?)del (p.(?)) | 7399 | USH2A | Pathogenic | -1 | RCV000155414; | N | MedGen:C1848634,OMIM:276901 | 1 | 216465517 | 216465712 | NM_206933.2:c.(?_1645)_(1840_?)del | NP_996816.2:p.(?) | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1724G>T (p.Cys575Phe) | 7399 | USH2A | Uncertain significance | 483353054 | RCV000119823; | N | MedGen:C1848634,OMIM:276901 | 1 | 216465633 | 216465633 | NM_206933.2:c.1724G>T | NP_996816.2:p.Cys575Phe | NC_000001.10:g.216465633C>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1606T>C (p.Cys536Arg) | 7399 | USH2A | Pathogenic | 111033273 | RCV000041794; | N | MedGen:C1848634,OMIM:276901 | 1 | 216495263 | 216495263 | NM_206933.2:c.1606T>C | NP_996816.2:p.Cys536Arg | NC_000001.10:g.216495263A>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1256G>T (p.Cys419Phe) | 7399 | USH2A | Pathogenic | 121912600 | RCV000002453; | N | MedGen:C1848634,OMIM:276901 | 1 | 216497582 | 216497582 | NM_206933.2:c.1256G>T | NP_996816.2:p.Cys419Phe | NC_000001.10:g.216497582C>A | OMIM Allelic Variant:608400.0009 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1227G>C (p.Trp409Cys) | 7399 | USH2A | Likely pathogenic | 397517979 | RCV000041715; | N | MedGen:C1848634,OMIM:276901 | 1 | 216497611 | 216497611 | NM_206933.2:c.1227G>C | NP_996816.2:p.Trp409Cys | NC_000001.10:g.216497611C>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1214delA (p.Asn405Ilefs) | 7399 | USH2A | Pathogenic | 750228923 | RCV000169682; | N | MedGen:C1848634,OMIM:276901 | 1 | 216497624 | 216497624 | NM_206933.2:c.1214delA | NP_996816.2:p.Asn405Ilefs | NC_000001.10:g.216497624delT | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1143+1G>A | 7399 | USH2A | Pathogenic | 397517974 | RCV000041697; | N | MedGen:C1848634,OMIM:276901 | 1 | 216498646 | 216498646 | NM_206933.2:c.1143+1G>A | | NC_000001.10:g.216498646C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1036A>C (p.Asn346His) | 7399 | USH2A | Likely pathogenic | 369522997 | RCV000041668; | N | MedGen:C1848634,OMIM:276901 | 1 | 216498754 | 216498754 | NM_206933.2:c.1036A>C | NP_996816.2:p.Asn346His | NC_000001.10:g.216498754T>G | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.1000C>T (p.Arg334Trp) | 7399 | USH2A | Pathogenic | 397517963 | RCV000213203; | N | MedGen:C1848634,OMIM:276901 | 1 | 216498790 | 216498790 | NM_206933.2:c.1000C>T | NP_996816.2:p.Arg334Trp | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.956G>A (p.Cys319Tyr) | 7399 | USH2A | Pathogenic | 121912599 | RCV000002449; | N | MedGen:C1848634,OMIM:276901 | 1 | 216498834 | 216498834 | NM_206933.2:c.956G>A | NP_996816.2:p.Cys319Tyr | NC_000001.10:g.216498834C>T | OMIM Allelic Variant:608400.0005 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.949C>A (p.Arg317=) | 7399 | USH2A | Pathogenic | 111033272 | RCV000002452; | N | MedGen:C1848634,OMIM:276901 | 1 | 216498841 | 216498841 | NM_206933.2:c.949C>A | NP_996816.2:p.Arg317= | NC_000001.10:g.216498841G>T | OMIM Allelic Variant:608400.0008 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.920_923dupGCCA (p.His308Glnfs) | 7399 | USH2A | Pathogenic | 397518043 | RCV000041941; | N | MedGen:C1848634,OMIM:276901 | 1 | 216498867 | 216498870 | NM_206933.2:c.920_923dupGCCA | NP_996816.2:p.His308Glnfs | NC_000001.10:g.216498867_216498870dupTGGC | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.820C>T (p.Arg274Ter) | 7399 | USH2A | Pathogenic | 397518036 | RCV000041921; | N | MedGen:C1848634,OMIM:276901 | 1 | 216500961 | 216500961 | NM_206933.2:c.820C>T | NP_996816.2:p.Arg274Ter | NC_000001.10:g.216500961G>A | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.779T>G (p.Leu260Ter) | 7399 | USH2A | Pathogenic | 121912598 | RCV000002448; | N | MedGen:C1848634,OMIM:276901 | 1 | 216538300 | 216538300 | NM_206933.2:c.779T>G | NP_996816.2:p.Leu260Ter | NC_000001.10:g.216538300A>C | OMIM Allelic Variant:608400.0004 | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.653T>A (p.Val218Glu) | 7399 | USH2A | Likely pathogenic | 397518026 | RCV000041890; | N | MedGen:C1848634,OMIM:276901 | 1 | 216538426 | 216538426 | NM_206933.2:c.653T>A | NP_996816.2:p.Val218Glu | NC_000001.10:g.216538426A>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.632G>A (p.Trp211Ter) | 7399 | USH2A | Pathogenic | 727504893 | RCV000156272; | N | MedGen:C1848634,OMIM:276901 | 1 | 216591875 | 216591875 | NM_206933.2:c.632G>A | NP_996816.2:p.Trp211Ter | NC_000001.10:g.216591875C>T | - | C1848634 276901 Usher syndrome, type 2A | | |
NG_009497.1:g.9717G>C | 7399 | USH2A | Pathogenic | -1 | RCV000220465; | N | MedGen:C1848634,OMIM:276901 | 1 | 216592022 | 216592022 | NM_206933.2:c.486-1G>C | | | - | C1848634 276901 Usher syndrome, type 2A | | |
NM_206933.2(USH2A):c.240_241insGATC (p.Gln81Aspfs) | 7399 | USH2A | Pathogenic | 587776538 | RCV000002454; RCV000002455; | Y | MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809 | 1 | 216595438 | 216595439 | NM_206933.2:c.240_241insGATC | NP_996816.2:p.Gln81Aspfs | | OMIM Allelic Variant:608400.0010 | C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A | | |