| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC100130357, LOC129995804
+2 more | Deletion (intron variant) | PHACTR1-related disorder | |
| | LOC100130357, LOC129995804
+2 more (R392Q +4 more) | Single nucleotide variant (missense variant +1 more) | PHACTR1-related disorder | |
| | LOC100130357, PHACTR1
+1 more | Single nucleotide variant (synonymous variant +1 more) | PHACTR1-related disorder | |
| | LOC100130357, PHACTR1
+1 more | Single nucleotide variant (3 prime UTR variant +1 more) | PHACTR1-related disorder | |
Click to view in NCBI Gene