NM_007055.4(POLR3A):c.3205C>T (p.Arg1069Trp)Likely pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Leukodystrophy
β
β
ββ2026β Residue 1069
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter)Pathogenic
not provided|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
β
β
ββ2026β Residue 808
NM_007055.4(POLR3A):c.1909+22G>APathogenic
not provided|Neonatal pseudo-hydrocephalic progeroid syndrome|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|POLR3A-related neurological disorders|not specified|POLR3A-related disorder|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Neonatal pseudo-hydrocephalic progeroid syndrome;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Inborn genetic diseases|POLR-related leukodystrophy|Spastic ataxia|Movement disorder|Hereditary ataxia|Autosomal recessive POLR3A-related disorders
β
β
ββ2026
NM_007055.4(POLR3A):c.1771-6C>GPathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Inborn genetic diseases|Neonatal pseudo-hydrocephalic progeroid syndrome;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|Ovarian serous cystadenocarcinoma|Neonatal pseudo-hydrocephalic progeroid syndrome
β
β
ββ2026
NM_007055.4(POLR3A):c.2617-1G>APathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Neonatal pseudo-hydrocephalic progeroid syndrome|Leukodystrophy|Acute myeloid leukemia
β
β
ββ2026
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)Pathogenic
Neonatal pseudo-hydrocephalic progeroid syndrome|not provided|Wiedemann-Rautenstrauch-like progeroid syndrome|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Neonatal pseudo-hydrocephalic progeroid syndrome;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|POLR-related leukodystrophy
β
β
ββ2025β Residue 254
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)Pathogenic
not provided|Neonatal pseudo-hydrocephalic progeroid syndrome|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|Hereditary ataxia
β
β
ββ2025β Residue 669
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)Pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|Neonatal pseudo-hydrocephalic progeroid syndrome|not provided|Leukodystrophy
β
β
ββ2025β Residue 1005
NM_007055.4(POLR3A):c.1771-7C>GPathogenic
not provided|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|Neonatal pseudo-hydrocephalic progeroid syndrome|POLR-related leukodystrophy|POLR3A-related disorder|Adult onset hereditary spastic paraplegia|Intellectual disability
β
β
ββ2025
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)Pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Leukodystrophy
β
β
ββ2025β Residue 852
NM_007055.4(POLR3A):c.1572+1G>APathogenic
Neonatal pseudo-hydrocephalic progeroid syndrome|not provided|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
β
β
ββ2025
NM_007055.4(POLR3A):c.3951dup (p.Leu1318fs)Pathogenic
not provided|POLR-related leukodystrophy
β
β
ββ2025β Residue 1318
NM_007055.4(POLR3A):c.601del (p.Ile201fs)Pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|POLR-related leukodystrophy
β
β
ββ2025β Residue 201
NM_007055.4(POLR3A):c.1909+18G>APathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Neonatal pseudo-hydrocephalic progeroid syndrome|Cervical cancer
β
β
ββ2025
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg)Likely pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided
β
β
ββ2025β Residue 671
NM_007055.4(POLR3A):c.3115C>T (p.Gln1039Ter)Pathogenic
Leukodystrophy|not provided
β
β
ββ2025β Residue 1039
NM_007055.4(POLR3A):c.1048+5G>TPathogenic
Neonatal pseudo-hydrocephalic progeroid syndrome|Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|Autosomal recessive POLR3A-related disorders
β
β
ββ2025
NM_007055.4(POLR3A):c.1784G>A (p.Trp595Ter)Pathogenic
not provided
β
β
ββ2025β Residue 595
NM_007055.4(POLR3A):c.685C>T (p.Arg229Ter)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025β Residue 229
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs)Pathogenic
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|not provided|POLR3A-related disorder|Autosomal recessive POLR3A-related disorders
β
β
ββ2025β Residue 1195