| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992578, MIR8053 +81 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (3 prime UTR variant) | Retinitis Pigmentosa, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Duplication (3 prime UTR variant) | Retinitis Pigmentosa, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | CNGA1, LOC101927157 (D684V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (D684N) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (I683L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (G681A +1 more) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +1 more | |
| | CNGA1, LOC101927157 (A682V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CNGA1, LOC101927157 (I677T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CNGA1, LOC101927157 (T668I) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (L665P +1 more) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | CNGA1, LOC101927157 (P664Q) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (P664L) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (P664T) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (K657E) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (T660I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CNGA1, LOC101927157 (R654fs) | Deletion (frameshift variant) | Retinitis pigmentosa 49 | |
| | CNGA1, LOC101927157 (L651P) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (K654E +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CNGA1, LOC101927157 (M647I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (M651T +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (M647V) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (E645A) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (Y644*) | Single nucleotide variant (nonsense) | not provided | |
| | CNGA1, LOC101927157 (Y644H) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (R639Q) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (R639*) | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CNGA1, LOC101927157 (A638T) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (L637P +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (L633R) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CNGA1, LOC101927157 (D631Y) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CNGA1, LOC101927157 (R625L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CNGA1, LOC101927157 (R625Q) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CNGA1, LOC101927157 (R625*) | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | CNGA1, LOC101927157 (V623F) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (E620K +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (L31V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC101927157, CNGA1 (S614R +1 more) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CNGA1, LOC101927157 (I609M +1 more) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC101927157, CNGA1 (M39I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (G603V) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (K601Q) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (K596R) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (M590T) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (M590V) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 49 +2 more | |
| | CNGA1, LOC101927157 (I58M) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (Y588* +1 more) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (T582fs) | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | CNGA1, LOC101927157 (L577I) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (D575fs) | Deletion (frameshift variant) | not provided | |
| | CNGA1, LOC101927157 (C571Y) | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | CNGA1, LOC101927157 (L569fs) | Insertion (frameshift variant) | Retinitis pigmentosa 49 | |
| | CNGA1, LOC101927157 (S571L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (S563R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (S567I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (S563fs) | Deletion (frameshift variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (T558M) | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
| | CNGA1, LOC101927157 (R556Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (R629* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | CNGA1, LOC101927157 (A553G) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (G550R) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (N547fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy | |
| | CNGA1, LOC101927157 (S548R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (S544G) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (G541D) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (G614S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +1 more | |
| | LOC101927157, CNGA1 (F613C +1 more) | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | CNGA1, LOC101927157 (Y539*) | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | LOC101927157, CNGA1 (D536N) | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (V537L +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CNGA1, LOC101927157 (V528I) | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |