NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)Pathogenic
X-linked myopathy with postural muscle atrophy|not provided
★★☆☆2026→ Residue 240
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser)Pathogenic
X-linked scapuloperoneal muscular dystrophy|not provided|X-linked myopathy with postural muscle atrophy
★★☆☆2025→ Residue 138
NM_001159699.2(FHL1):c.661dup (p.Asp221fs)Pathogenic
X-linked myopathy with postural muscle atrophy|not provided
★★☆☆2025→ Residue 221
NM_001159699.2(FHL1):c.664C>T (p.Gln222Ter)Pathogenic
X-linked myopathy with postural muscle atrophy|Cardiovascular phenotype
★★☆☆2025→ Residue 222
NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter)Pathogenic
not provided|Thyroid cancer, nonmedullary, 1
★★☆☆2025→ Residue 87
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)Pathogenic
Myopathy, reducing body, X-linked, childhood-onset|Abnormality of the musculature|X-linked myopathy with postural muscle atrophy
★★☆☆2025→ Residue 169
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)Pathogenic
X-linked myopathy with postural muscle atrophy
★★☆☆2025→ Residue 224
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)Pathogenic
X-linked myopathy with postural muscle atrophy|Cardiovascular phenotype
★★☆☆2024→ Residue 205
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)Pathogenic
X-linked myopathy with postural muscle atrophy|Uruguay Faciocardiomusculoskeletal syndrome;X-linked scapuloperoneal muscular dystrophy;Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;X-linked myopathy with postural muscle atrophy
★★☆☆2024→ Residue 197
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)Pathogenic
Myopathy, reducing body, X-linked, early-onset, severe;Uruguay Faciocardiomusculoskeletal syndrome;Myopathy, reducing body, X-linked, childhood-onset;X-linked myopathy with postural muscle atrophy;X-linked scapuloperoneal muscular dystrophy|X-linked myopathy with postural muscle atrophy
★★☆☆2024→ Residue 166
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)Pathogenic
X-linked myopathy with postural muscle atrophy|Familial hemophagocytic lymphohistiocytosis type 1
★★☆☆2023→ Residue 192
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)Pathogenic
not provided|X-linked myopathy with postural muscle atrophy
★★☆☆2022→ Residue 214
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)Pathogenic
X-linked myopathy with postural muscle atrophy|not provided
★★☆☆2022→ Residue 137
NM_001159699.2(FHL1):c.288del (p.Phe96fs)Pathogenic
X-linked myopathy with postural muscle atrophy|Cardiovascular phenotype
★★☆☆2022→ Residue 96
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)Pathogenic
not provided|X-linked myopathy with postural muscle atrophy
★★☆☆2019→ Residue 282
NM_001159699.2(FHL1):c.108del (p.Gln37fs)Pathogenic
X-linked myopathy with postural muscle atrophy
★☆☆☆2026→ Residue 37
NM_001159699.2(FHL1):c.588_597del (p.Trp197fs)Pathogenic
X-linked myopathy with postural muscle atrophy
★☆☆☆2025→ Residue 197
NM_001159699.2(FHL1):c.841_844del (p.Val281fs)Likely pathogenic
not provided
★☆☆☆2025→ Residue 281
NM_001159699.2(FHL1):c.573_576del (p.Tyr192fs)Pathogenic
X-linked myopathy with postural muscle atrophy
★☆☆☆2025→ Residue 192
NM_001159699.2(FHL1):c.606dup (p.Val203fs)Pathogenic
X-linked myopathy with postural muscle atrophy
★☆☆☆2025→ Residue 203