| | ILRUN-AS1, IP6K3 +2582 more | Copy number gain | See cases | |
| | LOC129996415, LOC129996416 +435 more | Copy number loss | See cases | |
| | LOC132089395, LOC132089396 +324 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cone dystrophy 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cone dystrophy 3 | |
| | GUCA1A, CIMIP3 +1 more (M14L) | Single nucleotide variant (missense variant +2 more) | Cone dystrophy 3 | |
| | CIMIP3, GUCA1A +1 more (G16S) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | CIMIP3, GUCA1A +1 more (G16V) | Single nucleotide variant (missense variant +2 more) | Cone dystrophy 3 | |
| | | Single nucleotide variant (intron variant) | Cone dystrophy 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cone dystrophy 3 | |
| | CIMIP3, GUCA1A +1 more (H42N +1 more) | Single nucleotide variant (missense variant +2 more) | Cone dystrophy 3 | |
| | GUCA1A, GUCA1ANB-GUCA1A +1 more (R45Q +1 more) | Single nucleotide variant (missense variant +2 more) | Cone dystrophy 3 | |
| | CIMIP3, GUCA1A +1 more (R47Q +1 more) | Single nucleotide variant (missense variant +2 more) | Cone dystrophy 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cone dystrophy 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cone dystrophy 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cone dystrophy 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cone dystrophy 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (N3K) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cone dystrophy 3 +2 more | |
| | GUCA1A, GUCA1ANB-GUCA1A (V4M) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GUCA1A, GUCA1ANB-GUCA1A (V4A) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (G7A) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (S9P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (S14T) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (E17K) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (E17*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (Y22H) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (Y22*) | Single nucleotide variant (nonsense) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (F25del) | Deletion (inframe_deletion) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (C29R) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (C29Y) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (S31fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (G32S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (L34F) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | GUCA1A, GUCA1ANB-GUCA1A (Y37F) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (R40C) | Single nucleotide variant (missense variant) | GUCA1A-related disorder +1 more | |
| | GUCA1A, GUCA1ANB-GUCA1A (R40P) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (R40L) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (R40H) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (Q41H) | Single nucleotide variant (missense variant) | Cone dystrophy 3 | |
| | GUCA1ANB-GUCA1A, GUCA1A (F42I) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (F42L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (G44S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cone dystrophy 3 +1 more | GConflicting classifications of pathogenicity |
| | GUCA1A, GUCA1ANB-GUCA1A (P50R) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1ANB-GUCA1A, GUCA1A (P50L) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (S51L) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (A52T) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (A52G) | Indel (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (A52G) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (V56L) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (V56M) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (T62P) | Single nucleotide variant (missense variant) | Cone dystrophy 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | GUCA1A-related disorder +1 more | |
| | GUCA1A, GUCA1ANB-GUCA1A (D68E) | Single nucleotide variant (missense variant) | Cone dystrophy 3 | |
| | GUCA1A, GUCA1ANB-GUCA1A (G69R) | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
| | GUCA1A, GUCA1ANB-GUCA1A (G69C) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (I71V) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (I71T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (inframe_insertion) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (M74K) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (Y76C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (A79S) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1ANB-GUCA1A, GUCA1A (A79T) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (A79fs) | Deletion (frameshift variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (A79E) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (L80F) | Single nucleotide variant (missense variant) | not provided | |
| | GUCA1A, GUCA1ANB-GUCA1A (L80I) | Single nucleotide variant (missense variant) | Cone dystrophy 3 | |