input stringlengths 27 765 | output stringclasses 88
values |
|---|---|
Gene: AP5Z1 | Chr: 7 | Pos: 4781213 | Pathogenic/Likely pathogenic |
Gene: AP5Z1 | Chr: 7 | Pos: 4787730 | Pathogenic |
Gene: ZNF592 | Chr: 15 | Pos: 84799209 | Uncertain significance |
Gene: FOXRED1 | Chr: 11 | Pos: 126275389 | Pathogenic |
Gene: FOXRED1 | Chr: 11 | Pos: 126277517 | Likely pathogenic |
Gene: WDR35 | Chr: 2 | Pos: 19989284 | Pathogenic |
Gene: WDR35 | Chr: 2 | Pos: 19945787 | Pathogenic |
Gene: WDR35 | Chr: 2 | Pos: 19931375 | Pathogenic |
Gene: WDR35 | Chr: 2 | Pos: 19933469 | Likely pathogenic |
Gene: HOGA1 | Chr: 10 | Pos: 97611612 | Pathogenic/Likely pathogenic |
Gene: HOGA1 | Chr: 10 | Pos: 97611535 | Pathogenic |
Gene: HOGA1 | Chr: 10 | Pos: 97598852 | Pathogenic/Likely pathogenic |
Gene: HOGA1 | Chr: 10 | Pos: 97600167 | Pathogenic |
Gene: HOGA1 | Chr: 10 | Pos: 97584912 | Pathogenic/Likely pathogenic |
Gene: HOGA1 | Chr: 10 | Pos: 97601925 | Pathogenic/Likely pathogenic |
Gene: WDPCP | Chr: 2 | Pos: 63492941 | Pathogenic |
Gene: WDPCP | Chr: 2 | Pos: 63437430 | risk factor |
Gene: WDPCP | Chr: 2 | Pos: 63487491 | risk factor |
Gene: TBC1D24 | Chr: 16 | Pos: 2496587 | Pathogenic |
Gene: TBC1D24 | Chr: 16 | Pos: 2500822 | Conflicting classifications of pathogenicity |
Gene: TBC1D24 | Chr: 16 | Pos: 2496899 | Pathogenic |
Gene: XPNPEP3 | Chr: 22 | Pos: 40924482 | Pathogenic |
Gene: XPNPEP3 | Chr: 22 | Pos: 40909195 | Pathogenic |
Gene: MTRFR | Chr: 12 | Pos: 123253922 | Pathogenic/Likely pathogenic |
Gene: MTRFR | Chr: 12 | Pos: 123253884 | Pathogenic/Likely pathogenic |
Gene: CEP152 | Chr: 15 | Pos: 48793359 | Pathogenic/Likely pathogenic |
Gene: CEP152 | Chr: 15 | Pos: 48756289 | Pathogenic/Likely pathogenic |
Gene: OPN1SW | Chr: 7 | Pos: 128775556 | Likely benign |
Gene: OPN1SW | Chr: 7 | Pos: 128774545 | Uncertain significance |
Gene: OPN1SW | Chr: 7 | Pos: 128773786 | Uncertain significance |
Gene: UROD | Chr: 1 | Pos: 45014803 | Pathogenic/Likely pathogenic |
Gene: UROD | Chr: 1 | Pos: 45014803 | Pathogenic |
Gene: UROD | Chr: 1 | Pos: 45014071 | Pathogenic |
Gene: UROD | Chr: 1 | Pos: 45013933 | Uncertain significance |
Gene: UROD | Chr: 1 | Pos: 45014835 | Pathogenic |
Gene: UROD | Chr: 1 | Pos: 45013187 | Pathogenic |
Gene: UROD | Chr: 1 | Pos: 45014996 | Conflicting classifications of pathogenicity |
Gene: UROD | Chr: 1 | Pos: 45015006 | Pathogenic/Likely pathogenic |
Gene: UROD | Chr: 1 | Pos: 45013928 | Pathogenic/Likely pathogenic |
Gene: UROD | Chr: 1 | Pos: 45014017 | Pathogenic |
Gene: UROD | Chr: 1 | Pos: 45014976 | Pathogenic |
Gene: UROD | Chr: 1 | Pos: 45015389 | Conflicting classifications of pathogenicity |
Gene: LIPA | Chr: 10 | Pos: 89225168 | Pathogenic |
Gene: LIPA | Chr: 10 | Pos: 89223710 | Pathogenic |
Gene: LIPA | Chr: 10 | Pos: 89225172 | Pathogenic |
Gene: LIPA | Chr: 10 | Pos: 89222510 | Pathogenic |
Gene: LIPA | Chr: 10 | Pos: 89245776 | Pathogenic |
Gene: HPSE2 | Chr: 10 | Pos: 98482733 | Pathogenic/Likely pathogenic |
Gene: HPSE2 | Chr: 10 | Pos: 98490051 | Pathogenic/Likely pathogenic |
Gene: HPSE2 | Chr: 10 | Pos: 99235561 | Pathogenic |
Gene: HPSE2 | Chr: 10 | Pos: 98490103 | Pathogenic |
Gene: HPSE2 | Chr: 10 | Pos: 99144391 | Pathogenic/Likely pathogenic |
Gene: HPSE2 | Chr: 10 | Pos: 99235745 | Pathogenic |
Gene: ASAH1 | Chr: 8 | Pos: 18061724 | Pathogenic |
Gene: ASAH1 | Chr: 8 | Pos: 18064501 | Likely pathogenic |
Gene: ASAH1 | Chr: 8 | Pos: 18075559 | Pathogenic/Likely pathogenic |
Gene: ASAH1 | Chr: 8 | Pos: 18059424 | Pathogenic |
Gene: ASAH1 | Chr: 8 | Pos: 18062383 | Pathogenic |
Gene: TCN2 | Chr: 22 | Pos: 30615771 | Pathogenic |
Gene: TCN2 | Chr: 22 | Pos: 30615623 | Benign |
Gene: TCN2 | Chr: 22 | Pos: 30613044 | Pathogenic |
Gene: TCN2 | Chr: 22 | Pos: 30616090 | Pathogenic |
Gene: TCN2 | Chr: 22 | Pos: 30615125 | Pathogenic |
Gene: MIR2861 | Chr: 9 | Pos: 127785950 | association |
Gene: TMEM127 | Chr: 2 | Pos: 96254117 | Pathogenic |
Gene: TMEM127 | Chr: 2 | Pos: 96254050 | Pathogenic/Likely pathogenic |
Gene: TMEM127 | Chr: 2 | Pos: 96254998 | Pathogenic/Likely pathogenic |
Gene: TMEM127 | Chr: 2 | Pos: 96265232 | Likely pathogenic; risk factor |
Gene: POMP | Chr: 13 | Pos: 28659089 | Pathogenic |
Gene: TPRN | Chr: 9 | Pos: 137199473 | Pathogenic/Likely pathogenic |
Gene: TPRN | Chr: 9 | Pos: 137199285 | Pathogenic |
Gene: TPRN | Chr: 9 | Pos: 137200474 | Pathogenic |
Gene: TPRN | Chr: 9 | Pos: 137200477 | Pathogenic |
Gene: TPRN | Chr: 9 | Pos: 137199182 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124412169 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124412013 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124405532 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124398076 | Pathogenic/Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124412009 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124408887 | Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124408601 | Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124405545 | Pathogenic/Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124403019 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124403015 | Pathogenic/Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124398057 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124398012 | Pathogenic/Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124397951 | Benign |
Gene: OAT | Chr: 10 | Pos: 124400875 | Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124403835 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124400865 | Benign |
Gene: OAT | Chr: 10 | Pos: 124401746 | Pathogenic/Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124412010 | Conflicting classifications of pathogenicity |
Gene: OAT | Chr: 10 | Pos: 124401785 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124408633 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124405534 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124403847 | Pathogenic/Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124403820 | Pathogenic |
Gene: OAT | Chr: 10 | Pos: 124400941 | Pathogenic/Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124398090 | Pathogenic/Likely pathogenic |
Gene: OAT | Chr: 10 | Pos: 124398082 | Uncertain significance |
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