| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935480, LOC129935481 +1299 more | 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 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 +1 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | 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 | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 disorder | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Fleck corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Fleck corneal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 disorder | |
| | | 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 disorder +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 disorder | |
| | | Single nucleotide variant (synonymous variant) | PIKFYVE-related disorder | |
| | | 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) | Inborn genetic diseases | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | 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 | |