- The following term was not found in ClinVar: Fluorophenoxybutyl.
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Fucosidosis | |
| | ADRB2, LOC129994952 (R16G) | Single nucleotide variant (no sequence alteration) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | HBB, LOC106099062
+1 more (E7K) | Single nucleotide variant (missense variant) | not provided +15 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Deletion (splice donor variant +1 more) | Propionic acidemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Isolated hyperchlorhidrosis | |
| | | Deletion (frameshift variant) | Progressive sclerosing poliodystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Adenine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Familial amyloid neuropathy +7 more | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene