Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HTRA2, LOC129934143 (R252Q) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | HTRA2, LOC129934141 (L192fs) | Duplication (frameshift variant +1 more) | 3-methylglutaconic aciduria type 8 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | 3-methylglutaconic aciduria type 8 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | HTRA2, LOC129934143 (R247C) | Single nucleotide variant (missense variant +2 more) | 3-methylglutaconic aciduria type 8 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Indel (missense variant +2 more) | 3-methylglutaconic aciduria type 8 | |
| | | Single nucleotide variant (splice donor variant +1 more) | 3-methylglutaconic aciduria type 8 | |
| | HTRA2, LOXL3 (V407fs +3 more) | Deletion (frameshift variant +2 more) | 3-methylglutaconic aciduria type 8 | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Parkinson disease 13, autosomal dominant, susceptibility to +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3-methylglutaconic aciduria type 8 +2 more | |
Click to view in NCBI Gene