| | | Single nucleotide variant (missense variant +1 more) | Filippi syndrome | |
| | | Duplication (frameshift variant) | Filippi syndrome | |
| | | Duplication (frameshift variant) | Filippi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Filippi syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Filippi syndrome | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Filippi syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CKAP2L, NT5DC4 (L449S +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | CKAP2L, NT5DC4 (R524H +1 more) | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Filippi syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Filippi syndrome | |
| | | Microsatellite (frameshift variant) | Filippi syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Filippi syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Filippi syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Filippi syndrome +1 more | |
| | | Deletion (frameshift variant) | Filippi syndrome | |
| | | Deletion (splice acceptor variant) | Filippi syndrome | |
| | | Deletion (frameshift variant) | Filippi syndrome | |
| | | Insertion (5 prime UTR variant +2 more) | Filippi syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Filippi syndrome | |
| | | Duplication (frameshift variant) | Filippi syndrome | |