NM_000146.4(FTL):c.-168G>CPathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|not provided|FTL-related disorder|See cases
β
β
ββ2025
NM_000146.4(FTL):c.-160A>GPathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|not provided
β
β
ββ2025
NM_000146.4(FTL):c.-150C>APathogenic
not provided|Neuroferritinopathy;Hereditary hyperferritinemia with congenital cataracts
β
β
ββ2025
NM_000146.4(FTL):c.-161C>TPathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts;L-ferritin deficiency;Neuroferritinopathy|not provided
β
β
ββ2025
NM_000146.4(FTL):c.-168G>APathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|not provided|FTL-related disorder
β
β
ββ2025
NM_000146.4(FTL):c.-167C>TPathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts|not provided
β
β
ββ2025
NM_000146.4(FTL):c.-168G>TPathogenic
Hereditary hyperferritinemia with congenital cataracts|not provided|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy|FTL-related disorder
β
β
ββ2025
NM_000146.4(FTL):c.89C>T (p.Thr30Ile)Pathogenic
Hereditary hyperferritinemia with congenital cataracts|Neuroferritinopathy;Hereditary hyperferritinemia with congenital cataracts
β
β
ββ2025β Residue 30
NM_000146.4(FTL):c.-164C>APathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β
β
ββ2024
NM_000146.4(FTL):c.-149G>CLikely pathogenic
Hereditary hyperferritinemia with congenital cataracts|Hereditary hyperferritinemia with congenital cataracts;L-ferritin deficiency;Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β
β
ββ2024
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)Pathogenic
Neuroferritinopathy
β
β
ββ2022β Residue 164
NM_000146.4(FTL):c.-166T>CLikely pathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β
βββ2025
NM_000146.4(FTL):c.501dup (p.Glu168fs)Pathogenic
Neuroferritinopathy
β
βββ2025β Residue 168
NM_000146.4(FTL):c.351delinsTTT (p.Gly118fs)Pathogenic
Neuroferritinopathy
β
βββ2025β Residue 118
NM_000146.4(FTL):c.460dup (p.Arg154fs)Pathogenic
Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β
βββ2024β Residue 154
NM_000146.4(FTL):c.469_484dup (p.Leu162fs)Likely pathogenic
Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β
βββ2024β Residue 162
NM_000146.4(FTL):c.-153G>ALikely pathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β
βββ2024
NM_000146.4(FTL):c.-151A>GPathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β
βββ2024
NM_000146.4(FTL):c.172G>T (p.Glu58Ter)Pathogenic
not provided
β
βββ2024β Residue 58
NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs)Pathogenic
Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy
β
βββ2022β Residue 154