| | 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 | |
| | 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 | |
| | LOC130066817, LOC130066818 +276 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066868, LOC130066869 +52 more | Copy number loss | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | Glutamate formiminotransferase deficiency +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Glutamate formiminotransferase deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | COL6A2-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Myosclerosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myosclerosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | FTCD-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glutamate formiminotransferase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Glutamate formiminotransferase deficiency | |
| | | Deletion (intron variant) | Collagen 6-related myopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Glutamate formiminotransferase deficiency | |
| | | Deletion (intron variant) | Glutamate formiminotransferase deficiency | |
| | | Duplication (frameshift variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Myosclerosis +3 more | |
| | | Single nucleotide variant (missense variant) | Glutamate formiminotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |