| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02950, LINC03021 +393 more | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999850, LOC129999851 +1038 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860345, LOC126860346 +1103 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | LOC130000150, LOC130000151 +996 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | MIR4660, MIR548H4 +773 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999842, LOC129999843 +232 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999872, LOC129999873 +122 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | FDFT1, LOC113788246 +9 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion (intron variant) | Squalene synthase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | FDFT1-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Squalene synthase deficiency | |
| | | Deletion (frameshift variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | FDFT1-related disorder | |
| | FDFT1, LOC129999907 (K15N) | Single nucleotide variant (intron variant +1 more) | FDFT1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FDFT1, LOC129999907 (T33S) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | FDFT1-related disorder | |
| | FDFT1, LOC129999907 (D49E) | Single nucleotide variant (missense variant +1 more) | FDFT1-related disorder | |
| | LOC129999907, FDFT1 (W59*) | Single nucleotide variant (nonsense +1 more) | Squalene synthase deficiency | |
| | | Insertion (inframe_insertion +1 more) | not provided | |
| | | Microsatellite (inframe_indel +2 more) | not provided +1 more | |
| | | Microsatellite (inframe_indel +2 more) | FDFT1-related disorder | |
| | | Microsatellite (inframe_indel +2 more) | FDFT1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Microsatellite (inframe_indel +2 more) | Squalene synthase deficiency | |
| | | Microsatellite (inframe_indel +2 more) | FDFT1-related disorder | |
| | | Microsatellite (inframe_indel +2 more) | FDFT1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Squalene synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | FDFT1-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | FDFT1-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | FDFT1-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | FDFT1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | FDFT1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | Squalene synthase deficiency | |
| | | Duplication (intron variant) | FDFT1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Deletion (inframe_deletion +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | FDFT1-related disorder | |