236200.4.1 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-1 from Family 2 in the public... |
236200.4.2 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Father of 236200.4.1 |
236200.4.3 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Mother of 236200.4.1 |
236200.5.1 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-3 from Family 3 in the public... |
236200.5.2 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-2 from Family 3 in the public... |
236200.5.3 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-4 from Family 3 in the public... |
236200.5.4 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-1 from Family 3 in the public... |
236200.5.5 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient I-1 from Family 3 in the publica... |
236200.6.1 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient IV-1 from Family 4 in the public... |
236200.6.2 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Brother of 236200.6.1 |
236200.6.3 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Brother of 236200.6.1 |
236200.6.4 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Father of 236200.6.1 |
236200.6.5 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Mother of 236200.6.1 |
236200.7.1 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient IV-2 from Family 5 in the public... |
236200.7.2 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Sister of 236200.7.1 |
236200.7.3 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Brother of 236200.7.1 |
236200.7.4 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Father of 236200.7.1 |
236200.7.5 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Mother of 236200.7.1 |
236200.8.1 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-3 from Family 6 in the public... |
236200.8.2 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-2 from Family 6 in the public... |
236200.8.3 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-1 from Family 6 in the public... |
236200.8.4 | Saudi Arabia | 1 | NA | | | Zaidi et al. 2012 | Mother of 236200.8.1 |
236200.11 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-1 from Family 9 in the public... |
236200.12 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient IV-7 from Family 10 in the publi... |
236200.13 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient II-1 from Family 11 in the publi... |
236200.14 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient IV-9 from Family 12 in the publi... |
236200.16 | Saudi Arabia | 2 | NA | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Zaidi et al. 2012 | Patient IV-12 from Family 14 in the publ... |
613381.1 | Qatar | 1 | | Pathogenic | | Devadoss Gandhi et al. 2024 | 1 individual from a study of 14,060 Qata... |