NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter)Pathogenic
not provided|Cone dystrophy|Retinal dystrophy|Cone dystrophy with supernormal rod response
β
β
ββ2026β Residue 260
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)Pathogenic
Cone dystrophy with supernormal rod response|Retinal dystrophy|not provided|Abnormality of the nervous system;Nystagmus|KCNV2-related disorder
β
β
ββ2026β Residue 461
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter)Pathogenic
Retinal dystrophy|Cone dystrophy with supernormal rod response|not provided
β
β
ββ2026β Residue 113
NM_133497.4(KCNV2):c.866C>A (p.Ser289Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β
β
ββ2026β Residue 289
NM_133497.4(KCNV2):c.200G>A (p.Trp67Ter)Pathogenic
not provided
β
β
ββ2025β Residue 67
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β
β
ββ2025β Residue 139
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter)Pathogenic
Cone dystrophy with supernormal rod response|not provided|KCNV2-related disorder|Retinal dystrophy
β
β
ββ2025β Residue 148
NM_133497.4(KCNV2):c.625G>T (p.Glu209Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β
β
ββ2025β Residue 209
NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs)Pathogenic
cone dystrophy with supernormal rod electroretinogram|not provided|Cone dystrophy with supernormal rod response
β
β
ββ2025β Residue 333
NM_133497.4(KCNV2):c.325C>T (p.Gln109Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β
β
ββ2025β Residue 109
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)Pathogenic
Cone dystrophy with supernormal rod response|not provided|KCNV2-related disorder
β
β
ββ2025β Residue 143
NM_133497.4(KCNV2):c.531T>A (p.Cys177Ter)Pathogenic
not provided|Cone dystrophy with supernormal rod response
β
β
ββ2025β Residue 177
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys)Pathogenic
cone dystrophy with supernormal rod electroretinogram|not provided|Cone dystrophy with supernormal rod response
β
β
ββ2025β Residue 320
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)Pathogenic
Cone dystrophy with supernormal rod response|not provided|Retinal dystrophy
β
β
ββ2025β Residue 3
NM_133497.4(KCNV2):c.530G>C (p.Cys177Ser)Likely pathogenic
not provided|Retinal dystrophy
β
β
ββ2024β Residue 177
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter)Pathogenic
not provided|Cone dystrophy
β
β
ββ2023β Residue 396
NM_133497.4(KCNV2):c.1096del (p.Val366fs)Pathogenic
Cone dystrophy with supernormal rod response|not provided
β
β
ββ2022β Residue 366
NM_133497.4(KCNV2):c.19_20del (p.Arg7fs)Pathogenic
not provided|Retinal dystrophy
β
β
ββ2022β Residue 7
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs)Pathogenic
Retinal dystrophy|not provided
β
β
ββ2020β Residue 328
NM_133497.4(KCNV2):c.1356+3_1356+6delPathogenic
Cone dystrophy|Retinal dystrophy
β
β
ββ2020