| NM_000071.3:c.1006C>T | Qatar; Saudi Arabia | NC_000021.9:g.43062344G>A | Pathogenic | Likely Pathogenic, Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | NG_008938.1:g.18587C>T; NM_000071.3:c.1006C>T; NP_000062.1:p.Arg336Cys | 398123151 | 92423 |
| NM_000071.3:c.1039G>A | Bahrain; Qatar | NC_000021.9:g.43062311C>T | Likely Pathogenic, Pathogenic | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | NG_008938.1:g.18620G>A; NM_000071.3:c.1039G>A; NP_000062.1:p.Gly347Ser | 771298943 | 188801 |
| NM_000071.3:c.1058C>T | Qatar | NC_000021.9:g.43060528G>A | Likely Pathogenic, Pathogenic | Pathogenic | | NG_008938.1:g.20403C>T; NM_000071.3:c.1058C>T; NP_000062.1:p.Thr353Met | 121964972 | 131 |
| NM_000071.3:c.1135C>T | Qatar | NC_000021.9:g.43060451G>A | Likely Pathogenic, Pathogenic | Pathogenic | | NG_008938.1:g.20480C>T; NM_000071.3:c.1135C>T; NP_000062.1:p.Arg379Trp | 769080151 | 212881 |
| NM_000071.3:c.19dup | Qatar | NC_000021.9:g.43072180dup | Pathogenic | Pathogenic | | NG_008938.1:g.8756dup; NM_000071.3:c.19dup; NP_000062.1:p.Gln7ProfsTer30 | 748695461 | 371345 |
| NM_000071.3:c.341C>T | Qatar; Syria | NC_000021.9:g.43066353G>A | Likely Pathogenic, Pathogenic | Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | NG_008938.1:g.14578C>T; NM_000071.3:c.341C>T; NP_000062.1:p.Ala114Val | 121964964 | 119 |
| NM_000071.3:c.373C>T | Qatar | NC_000021.9:g.43066321G>A | Likely Pathogenic, Pathogenic | Pathogenic | | NG_008938.1:g.14610C>T; NM_000071.3:c.373C>T; NP_000062.1:p.Arg125Trp | 886057100 | 340089 |
| NM_000071.3:c.457G>A | Saudi Arabia | NC_000021.9:g.43065690C>T | Likely Pathogenic, Pathogenic, Uncertain Significance | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | NG_008938.1:g.15241G>A; NM_000071.3:c.457G>A; NP_000062.1:p.Gly153Arg | 745704046 | 212846 |
| NM_000071.3:c.700G>A | Qatar | NC_000021.9:g.43065239C>T | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | NG_008938.1:g.15692G>A; NM_000071.3:c.700G>A; NP_000062.1:p.Asp234Asn | 773734233 | 212852 |
| NM_000071.3:c.770C>T | Sudan | NC_000021.9:g.43063958G>A | Likely Pathogenic, Pathogenic, Uncertain Significance | Likely Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | NG_008938.1:g.16973C>T; NM_000071.3:c.770C>T; NP_000062.1:p.Thr257Met | 758236584 | 188927 |
| NM_000071.3:c.833T>C | Qatar | NC_000021.9:g.43063074A>G | Pathogenic | Pathogenic | | NG_008938.1:g.17857T>C; NM_000071.3:c.833T>C; NP_000062.1:p.Ile278Thr | 5742905 | 120 |
| NM_000071.3:c.969G>A | Qatar; Saudi Arabia | NC_000021.9:g.43062381C>T | Pathogenic | Likely Pathogenic, Pathogenic | Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | NG_008938.1:g.18550G>A; NM_000071.3:c.969G>A; NP_000062.1:p.Trp323Ter | 863223432 | 212856 |
