| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC129937936, LOC129937937 +631 more | Copy number gain | See cases | |
| | LOC123453201, LOC123453202 +1450 more | Copy number gain | See cases | |
| | LOC129938169, LOC129938170 +1318 more | Copy number gain | See cases | |
| | LOC108281160, LOC108281177 +1247 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +1245 more | Copy number gain | See cases | |
| | LOC132088897, LOC132088898 +1201 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938260, LOC129938261 +1064 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938077, LOC129938078 +1041 more | Copy number gain | See cases | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 68 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 68 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SLC7A14, SLC7A14-AS1 (R695S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (R695C) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | SLC7A14, SLC7A14-AS1 (Y693F) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | SLC7A14, SLC7A14-AS1 (T692M) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (S691D) | Indel (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (S691G) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (Q690E) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (R684Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (R684*) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (A683T) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (E680D) | Single nucleotide variant (non-coding transcript variant +1 more) | Retinal dystrophy | |
| | SLC7A14, SLC7A14-AS1 (I674L) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (G671R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SLC7A14, SLC7A14-AS1 (L666M) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | SLC7A14, SLC7A14-AS1 (F663S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SLC7A14, SLC7A14-AS1 (A659V) | Single nucleotide variant (missense variant) | not provided | |
| | SLC7A14, SLC7A14-AS1 (R657Q) | Single nucleotide variant (missense variant) | not provided | |
| | SLC7A14, SLC7A14-AS1 (R657W) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SLC7A14, SLC7A14-AS1 (I656F) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | SLC7A14, SLC7A14-AS1 (T654P) | Single nucleotide variant (missense variant) | not provided | |