NM_004183.4(BEST1):c.73C>T (p.Arg25Trp)Pathogenic
not provided|Vitelliform macular dystrophy 2|Retinal dystrophy
β
β
ββ2026β Residue 25
NM_004183.4(BEST1):c.653G>A (p.Arg218His)Pathogenic
not provided|Macular dystrophy|Vitelliform macular dystrophy 2|Retinal dystrophy
β
β
ββ2026β Residue 218
NM_004183.4(BEST1):c.604C>T (p.Arg202Trp)Pathogenic
not provided|Retinal dystrophy|Autosomal recessive bestrophinopathy
β
β
ββ2026β Residue 202
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg)Pathogenic
not provided|BEST1-related disorder|Retinal disorder
β
β
ββ2026β Residue 274
NM_004183.4(BEST1):c.900G>C (p.Glu300Asp)Pathogenic
not provided|Retinal dystrophy
β
β
ββ2026β Residue 300
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)Pathogenic
Vitelliform macular dystrophy 2|not provided|Retinal dystrophy|Autosomal dominant vitreoretinochoroidopathy|Vitelliform macular dystrophy 1|Retinal disorder
β
β
ββ2026β Residue 243
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)Pathogenic
not provided|Autosomal recessive bestrophinopathy|BEST1-related disorder
β
β
ββ2026β Residue 130
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)Pathogenic
not provided|Vitelliform macular dystrophy 2|Autosomal recessive bestrophinopathy;Autosomal dominant vitreoretinochoroidopathy;Vitelliform macular dystrophy 2;Retinitis pigmentosa 50|Retinal dystrophy
β
β
ββ2026β Residue 218
NM_004183.4(BEST1):c.61C>G (p.Leu21Val)Pathogenic
not provided|Vitelliform macular dystrophy 2
β
β
ββ2025β Residue 21
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu)Pathogenic
not provided|Retinal dystrophy
β
β
ββ2025β Residue 301
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn)Pathogenic
not provided|Retinal dystrophy
β
β
ββ2025β Residue 312
NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys)Pathogenic
Vitelliform macular dystrophy 2|not provided
β
β
ββ2025β Residue 146
NM_004183.4(BEST1):c.919A>G (p.Thr307Ala)Likely pathogenic
not provided
β
β
ββ2025β Residue 307
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg)Pathogenic
not provided|Vitelliform macular dystrophy 2|Retinal dystrophy
β
β
ββ2025β Residue 30
NM_004183.4(BEST1):c.1470_1471del (p.His490fs)Pathogenic
Vitelliform macular dystrophy 2|not provided|Retinal dystrophy|Autosomal recessive bestrophinopathy|BEST1-related disorder
β
β
ββ2025β Residue 490
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)Pathogenic
not provided|Retinal dystrophy
β
β
ββ2025β Residue 307
NM_004183.4(BEST1):c.914T>C (p.Phe305Ser)Pathogenic
not provided|Retinal dystrophy|Retinal disorder
β
β
ββ2025β Residue 305
NM_004183.4(BEST1):c.241G>A (p.Val81Met)Pathogenic
Vitelliform macular dystrophy 2|Retinal dystrophy|not provided
β
β
ββ2025β Residue 81
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)Pathogenic
Retinal dystrophy|not provided
β
β
ββ2025β Residue 96
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)Pathogenic
not provided|Autosomal recessive bestrophinopathy|BEST1-related disorder|Retinal dystrophy
β
β
ββ2025β Residue 35