NM_002016.2(FLG):c.1714C>T (p.Arg572Ter)Pathogenic
not provided|Ichthyosis vulgaris
β
β
ββ2026β Residue 572
NM_002016.2(FLG):c.1279G>T (p.Gly427Ter)Pathogenic
not provided|Ichthyosis and erythrokeratoderma
β
β
ββ2026β Residue 427
NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter)Pathogenic
not provided|Ichthyosis vulgaris|Dermatitis, atopic, 2;Ichthyosis vulgaris
β
β
ββ2026β Residue 2417
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)Pathogenic
not provided|Dermatitis, atopic, 2;Ichthyosis vulgaris|Ichthyosis vulgaris|Dermatitis, atopic, 2|FLG-related disorder|Dermatitis, atopic|Inborn genetic diseases|Ichthyosis and erythrokeratoderma
β
β
ββ2026β Residue 2447
NM_002016.2(FLG):c.1830del (p.Arg612fs)Pathogenic
not provided|Inborn genetic diseases|Ichthyosis vulgaris
β
β
ββ2026β Residue 612
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)Pathogenic
not provided|Dermatitis, atopic, 2|Ichthyosis vulgaris
β
β
ββ2026β Residue 2613
NM_002016.2(FLG):c.557dup (p.Asn186fs)Pathogenic
not provided|Dermatitis, atopic, 2;Ichthyosis vulgaris|Ichthyosis vulgaris
β
β
ββ2026β Residue 186
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)Pathogenic
Inborn genetic diseases|not provided|Ichthyosis vulgaris
β
β
ββ2025β Residue 2080
NM_002016.2(FLG):c.11227C>T (p.Arg3743Ter)Pathogenic
not provided|Ichthyosis vulgaris
β
β
ββ2025β Residue 3743
NM_002016.2(FLG):c.3321del (p.Gly1109fs)Pathogenic
Ichthyosis vulgaris|Dermatitis, atopic, 2, susceptibility to|not provided|Dermatitis, atopic, 2;Ichthyosis vulgaris|Autosomal dominant ichthyosis vulgaris|Dermatitis, atopic, 2
β
β
ββ2025β Residue 1109
NM_002016.2(FLG):c.7267_7268del (p.Gln2423fs)Pathogenic
not provided|Ichthyosis vulgaris
β
β
ββ2025β Residue 2423
NM_002016.2(FLG):c.3418C>T (p.Arg1140Ter)Pathogenic
not provided|Ichthyosis vulgaris|Ichthyosis vulgaris;Dermatitis, atopic, 2
β
β
ββ2025β Residue 1140
NM_002016.2(FLG):c.3837del (p.Ser1280fs)Pathogenic
not provided|Ichthyosis vulgaris
β
β
ββ2025β Residue 1280
NM_002016.2(FLG):c.3702del (p.Ser1235fs)Pathogenic
not provided|Ichthyosis vulgaris|Incidental Discovery
β
β
ββ2025β Residue 1235
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)Pathogenic
Ichthyosis vulgaris|Dermatitis, atopic, 2, susceptibility to|not provided|Atopic eczema;Ichthyosis vulgaris|Ichthyosis vulgaris;Dermatitis, atopic, 2|Dermatitis, atopic, 2|Eczematoid dermatitis|FLG-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 501
NM_002016.2(FLG):c.7003dup (p.Gln2335fs)Pathogenic
not provided|Autosomal dominant and autosomal recessive FLG-related disorders
β
β
ββ2025β Residue 2335
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter)Pathogenic
not provided|Ichthyosis vulgaris|Dermatitis, atopic, 2;Ichthyosis vulgaris|FLG-related disorder
β
β
ββ2025β Residue 788
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter)Pathogenic
not provided|Ichthyosis vulgaris|Inborn genetic diseases|Dermatitis, atopic, 2
β
β
ββ2025β Residue 1515
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)Pathogenic
not provided|Ichthyosis vulgaris|FLG-related disorder
β
β
ββ2025β Residue 32
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)Pathogenic
Inborn genetic diseases|not provided|Ichthyosis vulgaris|Dermatitis, atopic, 2
β
β
ββ2025β Residue 2344