NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)Pathogenic
Deafness, X-linked 5|not provided|Charcot-Marie-Tooth Neuropathy X;Combined oxidative phosphorylation deficiency|Ear malformation|Severe X-linked mitochondrial encephalomyopathy|AIFM1-related disorder
★★☆☆2024→ Residue 422
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)Pathogenic
Sensorineural hearing loss disorder;Distal muscle weakness;Foot dorsiflexor weakness;Pes planus|Charcot-Marie-Tooth disease X-linked recessive 4|Charcot-Marie-Tooth Neuropathy X;Combined oxidative phosphorylation deficiency|not provided
★★☆☆2024→ Residue 340
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)Pathogenic
Deafness, X-linked 5|Severe X-linked mitochondrial encephalomyopathy|Charcot-Marie-Tooth Neuropathy X;Combined oxidative phosphorylation deficiency|Thyroid cancer, nonmedullary, 1
★★☆☆2023→ Residue 422
NM_004208.4(AIFM1):c.169T>C (p.Ser57Pro)Likely pathogenic
Dystonia 9
★☆☆☆2025→ Residue 57
NM_004208.4(AIFM1):c.760G>A (p.Glu254Lys)Likely pathogenic
Spondyloepimetaphyseal dysplasia, Bieganski type
★☆☆☆2025→ Residue 254
NM_004208.4(AIFM1):c.1739A>G (p.Asn580Ser)Likely pathogenic
Deafness, X-linked 5
★☆☆☆2025→ Residue 580
NM_004208.4(AIFM1):c.1741A>T (p.Ile581Phe)Likely pathogenic
Deafness, X-linked 5
★☆☆☆2025→ Residue 581
NM_004208.4(AIFM1):c.457C>T (p.Arg153Trp)Likely pathogenic
Deafness, X-linked 5
★☆☆☆2025→ Residue 153
NM_004208.4(AIFM1):c.691A>G (p.Lys231Glu)Likely pathogenic
Deafness, X-linked 5
★☆☆☆2025→ Residue 231
NM_004208.4(AIFM1):c.1267G>A (p.Val423Ile)Likely pathogenic
Severe X-linked mitochondrial encephalomyopathy
★☆☆☆2024→ Residue 423
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)Likely pathogenic
Deafness, X-linked 5|Combined oxidative phosphorylation deficiency;Charcot-Marie-Tooth Neuropathy X
★☆☆☆2024→ Residue 475
NM_004208.4(AIFM1):c.902A>T (p.Lys301Ile)Likely pathogenic
Auditory neuropathy
★☆☆☆2023→ Residue 301
NM_004208.4(AIFM1):c.1394C>T (p.Ala465Val)Likely pathogenic
Auditory neuropathy
★☆☆☆2023→ Residue 465
NM_004208.4(AIFM1):c.1408A>T (p.Thr470Ser)Likely pathogenic
Auditory neuropathy
★☆☆☆2023→ Residue 470
NM_004208.4(AIFM1):c.1415C>T (p.Ala472Val)Likely pathogenic
Auditory neuropathy
★☆☆☆2023→ Residue 472
NM_004208.4(AIFM1):c.1195G>A (p.Gly399Ser)Likely pathogenic
Combined oxidative phosphorylation deficiency;Charcot-Marie-Tooth Neuropathy X
★☆☆☆2023→ Residue 399
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)Likely pathogenic
Deafness, X-linked 5|not provided
★☆☆☆2022→ Residue 451
NM_004208.4(AIFM1):c.742G>A (p.Gly248Ser)Likely pathogenic
Spondyloepimetaphyseal dysplasia, Bieganski type
★☆☆☆2022→ Residue 248
NM_004208.4(AIFM1):c.1658C>T (p.Ala553Val)Likely pathogenic
Tip-toe gait
★☆☆☆2021→ Residue 553
NM_004208.4(AIFM1):c.776C>G (p.Ala259Gly)Likely pathogenic
Charcot-Marie-Tooth disease X-linked recessive 4
★☆☆☆2021→ Residue 259