| | | Single nucleotide variant (splice donor variant +1 more) | Classic homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Classic homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Classic homocystinuria | |
| | | Single nucleotide variant (stop lost) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Classic homocystinuria | |
| | | Single nucleotide variant (nonsense) | Classic homocystinuria +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Homocystinuria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | |
| | | Single nucleotide variant (splice donor variant) | Classic homocystinuria | |
| | | Deletion (frameshift variant) | Classic homocystinuria | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (splice donor variant) | Classic homocystinuria | |
| | | Single nucleotide variant (splice donor variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Classic homocystinuria | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria | |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more | |
| | | Deletion (splice donor variant) | Classic homocystinuria | |
| | | Deletion (frameshift variant) | Homocystinuria +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Classic homocystinuria +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Classic homocystinuria | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Classic homocystinuria | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria +4 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (splice donor variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more | |
| | | Single nucleotide variant (nonsense) | Classic homocystinuria | |
| | | Single nucleotide variant (missense variant) | Homocystinuria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Classic homocystinuria | |
| | | Single nucleotide variant (intron variant) | CBS-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Classic homocystinuria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CBS-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Classic homocystinuria | |
| | | Deletion (frameshift variant) | Homocystinuria +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria | |
| | | Deletion (frameshift variant) | Classic homocystinuria | |
| | | Single nucleotide variant (splice donor variant) | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Classic homocystinuria +1 more | |
| | | Deletion (frameshift variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Homocystinuria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria +3 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Classic homocystinuria | |
| | | Single nucleotide variant (splice donor variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Homocystinuria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Classic homocystinuria | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Homocystinuria +3 more | |