| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COQ6, ENTPD5 (D208H +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | LOC130067016, LZTR1 (Q10fs) | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Schwannomatosis +5 more | |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Schwannomatosis 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Schwannomatosis 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (splice acceptor variant) | Schwannomatosis 1 | |
| | | Indel (frameshift variant +1 more) | Schwannomatosis 1 | |
| | | Single nucleotide variant (nonsense) | Schwannomatosis 1, somatic | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
Click to view in NCBI Gene