| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | Parkinson disease 13, autosomal dominant, susceptibility to +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +3 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Parkinson disease 13, autosomal dominant, susceptibility to +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autism | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | HTRA2-related disorder | |
| | | Single nucleotide variant (nonsense +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | HTRA2, LOXL3 (G309C +3 more) | Single nucleotide variant (missense variant +2 more) | 3-methylglutaconic aciduria type 8 | |
| | HTRA2, LOXL3 (R311Q +3 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | HTRA2, LOXL3 (P387S +3 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | HTRA2, LOXL3 (G313A +3 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | HTRA2, LOXL3 (A393T +3 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | HTRA2, LOXL3 (M388V +3 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | HTRA2, LOXL3 (A327T +3 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | HTRA2, LOXL3 (E407K +3 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | HTRA2, LOXL3 (R400* +3 more) | Single nucleotide variant (nonsense +2 more) | not provided | |
| | HTRA2, LOXL3 (V407fs +3 more) | Deletion (frameshift variant +2 more) | 3-methylglutaconic aciduria type 8 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | HTRA2, LOXL3 (Q343* +3 more) | Single nucleotide variant (nonsense +2 more) | not provided | GConflicting classifications of pathogenicity |
| | HTRA2, LOXL3 (R423* +3 more) | Single nucleotide variant (nonsense +2 more) | not provided | |
| | HTRA2, LOXL3 (R348Q +3 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | HTRA2, LOXL3 (T449I +3 more) | Single nucleotide variant (missense variant +2 more) | Parkinson disease 13, autosomal dominant, susceptibility to +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | HTRA2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | HTRA2, LOXL3 (V359I +3 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |