Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Maffucci syndrome | |
| | HIF1A, HIF1A-AS3 (E457K +1 more) | Single nucleotide variant (missense variant) | Maffucci syndrome | |
| | HIF1A, HIF1A-AS3 (A654V +1 more) | Single nucleotide variant (missense variant) | Maffucci syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Maffucci syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Maffucci syndrome | |
| | HIF1A, HIF1A-AS3 (V50L +1 more) | Single nucleotide variant (missense variant) | Maffucci syndrome | |
| | | Single nucleotide variant (missense variant) | Maffucci syndrome | |
| | | Single nucleotide variant (missense variant) | Enchondromatosis +5 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (R210W +1 more) | Single nucleotide variant (missense variant +1 more) | Chuvash polycythemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Von Hippel-Lindau syndrome | |
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