NM_031433.4(MFRP):c.498dup (p.Asn167fs)Pathogenic
Isolated microphthalmia 5|not provided|Retinal dystrophy
β
β
ββ2026β Residue 167
NM_031433.4(MFRP):c.1124+1G>TPathogenic
Isolated microphthalmia 5|Retinal dystrophy|Isolated microphthalmia 5;Nanophthalmos 2
β
β
ββ2026
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys)Pathogenic
Nanophthalmia|Isolated microphthalmia 5|not provided|Nanophthalmos 2;Isolated microphthalmia 5
β
β
ββ2026β Residue 539
NM_031433.4(MFRP):c.498del (p.Asn167fs)Pathogenic
Nanophthalmos 2|Isolated microphthalmia 5|MFRP-related disorder|not provided|Retinal dystrophy|Isolated microphthalmia 5;Nanophthalmos 2
β
β
ββ2025β Residue 167
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter)Pathogenic
Retinal dystrophy|Isolated microphthalmia 5
β
β
ββ2025β Residue 285
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs)Pathogenic
Isolated microphthalmia 5|not provided|Isolated microphthalmia 5;Nanophthalmos 2|Retinal dystrophy
β
β
ββ2025β Residue 167
NM_031433.4(MFRP):c.1150dup (p.His384fs)Pathogenic
Nanophthalmos 2|Isolated microphthalmia 5|Retinal dystrophy
β
β
ββ2025β Residue 384
NM_031433.4(MFRP):c.642-2A>GPathogenic
not provided|Isolated microphthalmia 5
β
β
ββ2025
NM_031433.4(MFRP):c.169C>T (p.Arg57Ter)Pathogenic
not provided|Isolated microphthalmia 5
β
β
ββ2025β Residue 57
NM_031433.4(MFRP):c.298del (p.Ala100fs)Pathogenic
not provided|Isolated microphthalmia 5
β
β
ββ2025β Residue 100
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter)Pathogenic
not provided|Isolated microphthalmia 5
β
β
ββ2025β Residue 249
NM_031433.4(MFRP):c.523C>T (p.Gln175Ter)Pathogenic
Nanophthalmos 2|not provided|Isolated microphthalmia 5
β
β
ββ2024β Residue 175
NM_031433.4(MFRP):c.666del (p.Thr223fs)Pathogenic
Isolated microphthalmia 5|Nanophthalmos 2
β
β
ββ2024β Residue 223
NM_031433.4(MFRP):c.271C>T (p.Gln91Ter)Pathogenic
not provided|Isolated microphthalmia 5
β
β
ββ2024β Residue 91
NM_031433.4(MFRP):c.428-2A>GPathogenic
Isolated microphthalmia 5
β
β
ββ2024
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter)Pathogenic
Retinal dystrophy|not provided|Isolated microphthalmia 5
β
β
ββ2024β Residue 319
NM_031433.4(MFRP):c.1090_1091del (p.Thr364fs)Pathogenic
Isolated microphthalmia 5|Nanophthalmos 2;Isolated microphthalmia 5
β
β
ββ2023β Residue 364
NM_031433.4(MFRP):c.662_663insT (p.Thr223fs)Pathogenic
not provided|Isolated microphthalmia 5
β
β
ββ2022β Residue 223
NM_031433.4(MFRP):c.201G>A (p.Trp67Ter)Pathogenic
Isolated microphthalmia 5|not provided|Retinal dystrophy
β
β
ββ2021β Residue 67
NM_031433.4(MFRP):c.515G>A (p.Trp172Ter)Pathogenic
Isolated microphthalmia 5
β
βββ2025β Residue 172