| | LOC130066574, LOC130066575 +1159 more | Copy number gain | See cases | |
| | LOC130066796, LOC130066797 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066513, LOC130066514 +1160 more | Copy number gain | See cases | |
| | LOC126653326, LOC126653327 +1160 more | Copy number gain | See cases | |
| | LOC130066833, LOC130066834 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066700, LOC130066701 +1159 more | Copy number gain | See cases | |
| | LOC130066665, LOC130066666 +1160 more | Copy number gain | See cases | |
| | LOC126653316, LOC126653317 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | LOC130066436, LOC130066437 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP13-3, KRTAP13-4 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066541, LOC130066542 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066593, LOC130066594 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066830, LOC130066831 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129391220, LOC129391221 +1156 more | Copy number loss | See cases | |
| | LOC130066733, LOC130066734 +643 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066879, LOC130066880 +568 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066848, LOC130066849 +482 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC108254685, LOC108281139 +429 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066823, LOC130066824 +376 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066810, LOC130066811 +334 more | Copy number loss | See cases | |
| | LOC130066761, LOC130066762 +45 more | Duplication | Primary ciliary dyskinesia | |
| | LOC130066817, LOC130066818 +276 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria +1 more | |
| | | Duplication | Classic homocystinuria | |
| | | Deletion | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Classic homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant) | 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 (3 prime UTR variant +1 more) | Classic homocystinuria | |
| | | Microsatellite (3 prime UTR variant +1 more) | Homocystinuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Classic homocystinuria | |
| | | Deletion (3 prime UTR variant +1 more) | Homocystinuria | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Classic homocystinuria +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Duplication | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | |
| | | 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 (3 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | CBS-related condition | |
| | | Single nucleotide variant (stop lost) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | |
| | | Single nucleotide variant (stop lost) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |
| | | Single nucleotide variant (synonymous variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |
| | | Single nucleotide variant (synonymous variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |
| | | Single nucleotide variant (synonymous variant) | CBS-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |
| | | Single nucleotide variant (synonymous variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |
| | | Single nucleotide variant (missense variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more | |
| | | Single nucleotide variant (synonymous variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Classic homocystinuria | |
| | | Single nucleotide variant (synonymous variant) | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |