NM_015046.7(SETX):c.2332C>T (p.Arg778Ter)Pathogenic
not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2026→ Residue 778
NM_015046.7(SETX):c.23C>T (p.Thr8Met)Pathogenic
not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4
★★☆☆2025→ Residue 8
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)Pathogenic
not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Cerebellar ataxia|Amyotrophic lateral sclerosis|Abnormal central motor function|Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|SETX-related disorder
★★☆☆2025→ Residue 1770
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Inborn genetic diseases|not provided|Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|SETX-related disorder
★★☆☆2025→ Residue 1363
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)Pathogenic
not provided|Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4
★★☆☆2025→ Residue 1774
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)Pathogenic
not provided|Inborn genetic diseases|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 1864
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 111
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4
★★☆☆2025→ Residue 1618
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|not provided
★★☆☆2025→ Residue 1976
NM_015046.7(SETX):c.6843-3_6843-1delLikely pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)Pathogenic
Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 796
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs)Pathogenic
SETX-related disorder|not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4
★★☆☆2025→ Residue 2374
NM_015046.7(SETX):c.5243dup (p.Leu1750fs)Pathogenic
not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 1750
NM_015046.7(SETX):c.5264del (p.Thr1755fs)Pathogenic
Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2025→ Residue 1755
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser)Pathogenic
not provided|SETX-related disorder
★★☆☆2025→ Residue 1756
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2024→ Residue 1778
NM_015046.7(SETX):c.5222dup (p.Asp1742fs)Pathogenic
7 conditions|not provided|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2024→ Residue 1742
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)Likely pathogenic
Amyotrophic lateral sclerosis type 4|not provided|Distal spinal muscular atrophy
★★☆☆2024→ Residue 3
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)Pathogenic
not provided|Inborn genetic diseases|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
★★☆☆2024→ Residue 2243
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|not provided
★★☆☆2023→ Residue 2108