NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu)Pathogenic
Reis-Bucklers' corneal dystrophy|Avellino corneal dystrophy|not provided
β
β
ββ2026β Residue 124
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)Pathogenic
Groenouw corneal dystrophy type I|7 conditions|Lattice corneal dystrophy Type I|not provided|Corneal dystrophy
β
β
ββ2025β Residue 555
NM_000358.3(TGFBI):c.371G>A (p.Arg124His)Pathogenic
Avellino corneal dystrophy|not provided
β
β
ββ2025β Residue 124
NM_000358.3(TGFBI):c.1877A>G (p.His626Arg)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025β Residue 626
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln)Pathogenic
Thiel-Behnke corneal dystrophy|not provided
β
β
ββ2025β Residue 555
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)Pathogenic
Lattice corneal dystrophy Type I|Epithelial-stromal TGFBI dystrophy|not provided
β
β
ββ2025β Residue 124
NM_000358.3(TGFBI):c.1856T>A (p.Met619Lys)Pathogenic
not provided|Epithelial basement membrane dystrophy
β
β
ββ2024β Residue 619
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)Pathogenic
Corneal dystrophy, lattice type 3A|Corneal dystrophy|not provided|not specified|7 conditions
β
β
ββ2021β Residue 501
NM_000358.3(TGFBI):c.1877A>C (p.His626Pro)Pathogenic
not provided
β
βββ2024β Residue 626
NM_000358.3(TGFBI):c.1640T>G (p.Phe547Cys)Likely pathogenic
not provided
β
βββ2023β Residue 547
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)Likely pathogenic
Reis-Bucklers' corneal dystrophy
β
βββ2022β Residue 506
NM_000358.3(TGFBI):c.1855A>G (p.Met619Val)Likely pathogenic
Groenouw corneal dystrophy type I
β
βββ2022β Residue 619
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His)Likely pathogenic
Epithelial-stromal TGFBI dystrophy
β
βββ2021β Residue 622
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro)Likely pathogenic
Epithelial-stromal TGFBI dystrophy
β
βββ2021β Residue 538
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)Pathogenic
Groenouw corneal dystrophy type I|Epithelial-stromal TGFBI dystrophy
β
βββ2021β Residue 124
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr)Likely pathogenic
Thiel-Behnke corneal dystrophy
β
ββββ Residue 591
NM_000358.3(TGFBI):c.1526T>G (p.Leu509Arg)Pathogenic
Epithelial basement membrane dystrophy
ββββ2006β Residue 509
NM_000358.3(TGFBI):c.1868G>A (p.Gly623Asp)Pathogenic
Reis-Bucklers' corneal dystrophy
ββββ2005β Residue 623
NM_000358.3(TGFBI):c.1619T>C (p.Phe540Ser)Pathogenic
Corneal dystrophy, lattice type 3A
ββββ2005β Residue 540
NM_000358.3(TGFBI):c.1618_1620del (p.Phe540del)Pathogenic
Reis-Bucklers' corneal dystrophy
ββββ1998β Residue 540