NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)Pathogenic
Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2|Amyotrophic lateral sclerosis type 16
★★☆☆2025→ Residue 65
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs)Likely pathogenic
Amyotrophic lateral sclerosis type 16|Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16
★★☆☆2025→ Residue 188
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs)Pathogenic
Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16|Inborn genetic diseases
★★☆☆2025→ Residue 7
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs)Pathogenic
Amyotrophic lateral sclerosis type 16|Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16|not provided
★★☆☆2024→ Residue 95
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)Pathogenic
Amyotrophic lateral sclerosis type 16|Inborn genetic diseases|Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16
★★☆☆2022→ Residue 102
NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys)Likely pathogenic
Amyotrophic lateral sclerosis type 16|Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2
★★☆☆2021→ Residue 150
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs)Pathogenic
Inborn genetic diseases|Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2
★★☆☆2020→ Residue 8
NM_005866.4(SIGMAR1):c.353-2A>GLikely pathogenic
Nonpapillary renal cell carcinoma|Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2
★☆☆☆2025
NM_005866.4(SIGMAR1):c.73del (p.Val25fs)Likely pathogenic
Amyotrophic lateral sclerosis type 16
★☆☆☆2025→ Residue 25
NM_005866.4(SIGMAR1):c.672A>G (p.Ter224Trp)Likely pathogenic
Amyotrophic lateral sclerosis type 16
★☆☆☆2025→ Residue 224
NM_005866.4(SIGMAR1):c.152-2A>TLikely pathogenic
Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2
★☆☆☆2025
NM_005866.4(SIGMAR1):c.217_220del (p.Val73fs)Pathogenic
Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16
★☆☆☆2024→ Residue 73
NM_005866.4(SIGMAR1):c.446-2A>CLikely pathogenic
not provided
★☆☆☆2024
NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)Pathogenic
Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2
★☆☆☆2024→ Residue 153
NM_005866.4(SIGMAR1):c.445+1G>APathogenic
Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16
★☆☆☆2024
NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter)Pathogenic
Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16
★☆☆☆2024→ Residue 29
NM_005866.4(SIGMAR1):c.403C>T (p.Gln135Ter)Pathogenic
Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16
★☆☆☆2024→ Residue 135
NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter)Pathogenic
Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16
★☆☆☆2023→ Residue 164
NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)Pathogenic
Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16
★☆☆☆2023→ Residue 125
NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)Pathogenic
Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2
★☆☆☆2022→ Residue 42