NM_001281723.3:c.1147T>G | United Arab Emirates | NC_000003.12:g.15645063T>G | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Biotinidase Deficiency | NG_008019.2:g.48712T>G; NM_001281723.3:c.1147T>G; NP_001357587.1:p.Phe383Val | 104893686 | 143949 |
NM_001281723.3:c.1224C>T | Somalia | NC_000003.12:g.15645140C>T | Benign, Likely Benign | Likely Benign | Biotinidase Deficiency | NG_008019.1:g.48393C>T; NM_001281723.3:c.1224C>T; NP_001268652.2:p.Tyr408= | 35145938 | 38593 |
NM_001281723.3:c.1270G>C | United Arab Emirates | NC_000003.12:g.15645186G>C | Likely Benign, Likely Pathogenic, Pathogenic, Uncertain Significance | Likely Pathogenic, Pathogenic | Biotinidase Deficiency | NG_008019.2:g.48835G>C; NM_001281723.3:c.1270G>C; NP_001268652.2:p.Asp424His | 13078881 | 1900 |
NM_001281723.3:c.1308A>C | Palestine | NC_000003.12:g.15645224A>C | Likely Benign, Pathogenic | Likely Pathogenic | Biotinidase Deficiency | NG_008019.2:g.48873A>C; NM_001281723.3:c.1308A>C; NP_001268653.2:p.Gln436His | 80338685 | 1902 |
NM_001281723.3:c.130G>A | Lebanon | chr3:15635569 | Pathogenic | Pathogenic | Biotinidase Deficiency | NG_008019.1:g.38822G>A; NM_001281723.3:c.130G>A; NP_001310511.1:p.Glu44Lys | 397514340 | 24980 |
NM_001281723.3:c.1429C>T | Egypt; Somalia; United... | NC_000003.12:g.15645345C>T | Pathogenic | Likely Pathogenic, Pathogenic | Biotinidase Deficiency | NG_008019.1:g.48598C>T; NM_001281723.3:c.1429C>T; NP_001268652.2:p.Pro477Ser | 138818907 | 25094 |
NM_001281723.3:c.197T>C | United Arab Emirates | NC_000003.12:g.15635636T>C | | Likely Pathogenic | Biotinidase Deficiency | NG_008019.2:g.39285T>C; NM_001281723.3:c.197T>C; NP_001268653.2:p.Met66Thr | 587783002 | |
NM_001281723.3:c.364C>A | Somalia | NC_000003.12:g.15642022C>A | Likely Pathogenic, Pathogenic, Uncertain Significance | Likely Pathogenic, Pathogenic | Biotinidase Deficiency | NG_008019.1:g.45275C>A; NM_001281723.3:c.364C>A; NP_001268652.2:p.Pro122Thr | 397514357 | 25004 |
NM_001281723.3:c.410G>A | Syria | NC_000003.12:g.15644326G>A | Pathogenic | Likely Pathogenic | Biotinidase Deficiency | NG_008019.2:g.47975G>A; NM_001281723.3:c.410G>A; NP_001310511.1:p.Arg137His | 146015592 | 38290 |
NM_001281723.3:c.416G>A | United Arab Emirates | NC_000003.12:g.15644332G>A | Likely Pathogenic, Uncertain Significance | Likely Pathogenic | Biotinidase Deficiency | NG_008019.2:g.47981G>A; NM_001281723.3:c.416G>A; NP_001268652.2:p.Ser139Asn | 144717999 | 1236181 |
NM_001281723.3:c.497G>A | United Arab Emirates | NC_000003.12:g.15644413G>A | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Biotinidase Deficiency | NG_008019.2:g.48062G>A; NM_001281723.3:c.497G>A; NP_001268652.2:p.Cys166Tyr | 397514369 | 25020 |
NM_001281723.3:c.566G>A | Egypt | NC_000003.12:g.15644482G>A | Likely Pathogenic, Pathogenic | Likely Pathogenic | Biotinidase Deficiency | NG_008019.2:g.48131G>A; NM_001281723.3:c.566G>A; NP_001268653.2:p.Arg189His | 398123139 | 92400 |
NM_001281723.3:c.908A>G | United Arab Emirates | NC_000003.12:g.15644824A>G | Likely Pathogenic, Pathogenic, Uncertain Significance | Likely Pathogenic | Biotinidase Deficiency | NG_008019.2:g.48473A>G; NM_001281723.3:c.908A>G; NP_001357587.1:p.His303Arg | 397507176 | 38278 |
NM_001370658.1:c.1535C>T | Morocco; Syria; United... | NC_000003.12:g.15645451C>T | Pathogenic | Likely Pathogenic | Biotinidase Deficiency | NG_008019.2:g.49100C>T; NM_001370658.1:c.1535C>T; NP_001357587.1:p.Thr512Met | 104893688 | 1897 |
NM_001370658.1:c.262A>G | United Arab Emirates | NC_000003.12:g.15641920A>G | Likely Pathogenic, Uncertain Significance | Likely Pathogenic | Biotinidase Deficiency | NG_008019.2:g.45569A>G; NM_001370658.1:c.262A>G; NP_001357587.1:p.Ile88Val | 976185636 | 801944 |
NM_001370658.1:c.500del | United Arab Emirates | NC_000003.12:g.15644416del | Pathogenic | Pathogenic | Biotinidase Deficiency | NG_008019.2:g.48065del; NM_001370658.1:c.500del; NP_001357587.1:p.Pro167fs | | 1325381 |