| | | Deletion | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ARMC9, LOC122861306 (P717A) | Single nucleotide variant (missense variant) | not provided | |
| | ARMC9, LOC122861306 (N749S) | Single nucleotide variant (missense variant) | not provided | |
| | ARMC9, LOC122861306 (T736N) | Single nucleotide variant (missense variant) | not provided | |
| | ARMC9, LOC122861306 (I714M) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ARMC9, LOC122861306 (R725C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 30 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | ARMC9, LOC122861306 (R738H) | Single nucleotide variant (missense variant) | not provided | |
| | ARMC9, LOC122861306 (W720*) | Single nucleotide variant (nonsense) | not provided | |
| | ARMC9, LOC122861306 (R725H) | Single nucleotide variant (missense variant) | not provided | |
| | ARMC9, LOC122861306 (R730H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ARMC9, LOC122861306 (W720R) | Single nucleotide variant (missense variant) | not provided | |
| | ARMC9, LOC122861306 (P737L) | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | ARMC9, LOC122861306 (G724E) | Single nucleotide variant (missense variant) | not provided | |
| | ARMC9, LOC122861306 (R730C) | Single nucleotide variant (missense variant) | not provided | |
| | ARMC9, LOC122861306 (G735fs) | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ARMC9, LOC122861306 (T736fs) | Duplication (frameshift variant) | Joubert syndrome 30 +1 more | |
| | ARMC9, LOC122861306 (P744A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ARMC9, LOC122861306 (A743V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ARMC9, LOC129935819 (S170A) | Single nucleotide variant (missense variant +1 more) | ARMC9-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | ARMC9, LOC122861306 (R730fs) | Duplication (frameshift variant) | not provided | |
| | ARMC9, LOC122861306 (A715S) | Single nucleotide variant (missense variant) | not provided | |
| | ARMC9, LOC122861306 (A715T) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Familial aplasia of the vermis | |
| | | Single nucleotide variant | not provided | |