| | | Copy number loss | See cases | |
| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112214170, LOC112214171 +840 more | Copy number loss | See cases | |
| | LOC124958010, LOC124958011 +529 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +3 more) | Amyotrophic lateral sclerosis type 10 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | | Duplication (inframe_insertion +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | ANG-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Amyotrophic lateral sclerosis type 9 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Amyotrophic lateral sclerosis type 9 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | EGILA, RNASE4 +1 more (H37R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Insertion (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +1 more) | ANG-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | ANG-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ANG-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ANG, EGILA +1 more (G109fs) | Duplication (frameshift variant +1 more) | Amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ANG-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ANG-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | ANG-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Amyotrophic lateral sclerosis type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Amyotrophic lateral sclerosis type 9 | |