Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (missense variant) | Malignant tumor of urinary bladder +12 more | |
| | | Deletion (3 prime UTR variant +1 more) | Toriello-Lacassie-Droste syndrome | |
| | | Single nucleotide variant (intron variant) | Noonan syndrome 3 +12 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Cerebral arteriovenous malformation +13 more | |
| | | Single nucleotide variant (intron variant) | Noonan syndrome 3 +12 more | |
| | | Single nucleotide variant (intron variant) | Acute myeloid leukemia +13 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Toriello-Lacassie-Droste syndrome | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 3 +15 more | |
| | | Single nucleotide variant (intron variant) | Noonan syndrome 3 +12 more | |
| | | Single nucleotide variant (intron variant) | Noonan syndrome 3 +12 more | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
Click to view in NCBI Gene