| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FAM117B, FAM237A +509 more | Copy number loss | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | KANSL1L, KANSL1L-AS1 +96 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (intron variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Fleck corneal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (nonsense) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | PIKFYVE-related condition | |
| | | Single nucleotide variant (intron variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | PIKFYVE-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (intron variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (nonsense) | PIKFYVE-related condition | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | PIKFYVE-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Fleck corneal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | PIKFYVE-related condition | |
| | | Single nucleotide variant (synonymous variant) | PIKFYVE-related condition | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Fleck corneal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | PIKFYVE-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Fleck corneal dystrophy | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | PIKFYVE-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Fleck corneal dystrophy +1 more | |