| KCNV2 K3Shift | likely pathogenic | recessive | Reported in ClinVar to cause retinal cone dystrophy in a recessive manner: http://www.ncbi.nlm.nih.gov/clinvar/RCV000033031.3/
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| KCNV2 E143X | insufficiently evaluated pathogenic | unknown |
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| KCNV2 V226I | insufficiently evaluated none, f=0.008 | unknown |
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| KCNV2 S256W | insufficiently evaluated pathogenic | unknown |
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| KCNV2 M285R | insufficiently evaluated not reviewed, f=0.006 | unknown |
| CGI sample GS00253-DNA_B02_200_37 |
| KCNV2 E306X | insufficiently evaluated pathogenic | unknown |
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| KCNV2 M307R | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| KCNV2 A331S | insufficiently evaluated not reviewed, f=0.019 | unknown |
| var-GS19735-1100-36-ASM |
| KCNV2 I418Shift | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| KCNV2 A419T | insufficiently evaluated not reviewed | unknown |
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| KCNV2 G459D | insufficiently evaluated pathogenic | unknown |
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| KCNV2 A505S | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18526-1100-36-ASM |
| KCNV2 L533V | insufficiently evaluated none, f=0.157 | unknown |
| var-GS19025-1100-36-ASM |
| KCNV2 L539P | insufficiently evaluated not reviewed, f=0.015 | unknown |
| var-GS19020-1100-36-ASM |