NM_182894.3(VSX2):c.598C>T (p.Arg200Ter)Pathogenic
Isolated microphthalmia 2|Microphthalmia
β
β
ββ2025β Residue 200
NM_182894.3(VSX2):c.267del (p.Gln90fs)Pathogenic
Isolated microphthalmia 2|Microphthalmia, isolated, with coloboma 3;Isolated microphthalmia 2|Microphthalmia
β
β
ββ2025β Residue 90
NM_182894.3(VSX2):c.584G>A (p.Trp195Ter)Pathogenic
Isolated microphthalmia 2|Microphthalmia
β
β
ββ2025β Residue 195
NM_182894.3(VSX2):c.599G>A (p.Arg200Gln)Pathogenic
Microphthalmia, cataracts, and iris abnormalities|Isolated microphthalmia 2|Microphthalmia
β
β
ββ2025β Residue 200
NM_182894.3(VSX2):c.589C>T (p.Gln197Ter)Pathogenic
Isolated microphthalmia 2|Microphthalmia
β
β
ββ2025β Residue 197
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp)Pathogenic
Isolated microphthalmia 2|Microphthalmia, isolated, with coloboma 3|Anophthalmia;Microphthalmia|VSX2-related Microphthalmia|Isolated microphthalmia 2;Microphthalmia, isolated, with coloboma 3
β
β
ββ2025β Residue 227
NM_182894.3(VSX2):c.695del (p.Leu232fs)Likely pathogenic
Isolated microphthalmia 2;Microphthalmia, isolated, with coloboma 3|Microphthalmia
β
β
ββ2024β Residue 232
NM_182894.3(VSX2):c.371-1G>APathogenic
Isolated microphthalmia 2|Microphthalmia, isolated, with coloboma 3|Microphthalmia
β
β
ββ2024
NM_182894.3(VSX2):c.87C>A (p.Cys29Ter)Pathogenic
Isolated microphthalmia 2|Microphthalmia, isolated, with coloboma 3;Isolated microphthalmia 2
β
β
ββ2024β Residue 29
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg)Pathogenic
Anophthalmia-microphthalmia syndrome|VSX2-related Microphthalmia|Isolated microphthalmia 2|Microphthalmia
β
β
ββ2024β Residue 223
NM_182894.3(VSX2):c.71dup (p.Ala25fs)Pathogenic
Anophthalmia-microphthalmia syndrome|Isolated microphthalmia 2
β
β
ββ2023β Residue 25
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)Pathogenic
Microphthalmia, cataracts, and iris abnormalities|Isolated microphthalmia 2|VSX2-related disorder|not provided|Microphthalmia, isolated, with coloboma 3
β
β
ββ2023β Residue 200
NM_182894.3(VSX2):c.972_973del (p.Ser325fs)Likely pathogenic
Microphthalmia
β
βββ2026β Residue 325
NM_182894.3(VSX2):c.438del (p.Lys147fs)Pathogenic
Isolated microphthalmia 2
β
βββ2025β Residue 147
NM_182894.3(VSX2):c.1086G>C (p.Ter362Tyr)Likely pathogenic
Microphthalmia
β
βββ2025β Residue 362
NM_182894.3(VSX2):c.760+1delLikely pathogenic
Microphthalmia
β
βββ2025
NM_182894.3(VSX2):c.371-2A>CPathogenic
Microphthalmia
β
βββ2025
NM_182894.3(VSX2):c.870dup (p.Asp291fs)Likely pathogenic
Microphthalmia
β
βββ2025β Residue 291
NM_182894.3(VSX2):c.1059del (p.Pro354fs)Likely pathogenic
Microphthalmia
β
βββ2025β Residue 354
NM_182894.3(VSX2):c.316C>T (p.Gln106Ter)Pathogenic
Microphthalmia, isolated, with coloboma 3
β
βββ2025β Residue 106