| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090233, LOC132090234 +264 more | Copy number loss | See cases | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | HIF1A, HIF1A-AS3 (K45R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (A65S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (A41V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (V50L +1 more) | Single nucleotide variant (missense variant) | Maffucci syndrome | |
| | HIF1A, HIF1A-AS3 (S52L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (M60I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (L102M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (G122D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | HIF1A, HIF1A-AS3 (M144T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (C139R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (S205G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | HIF1A, HIF1A-AS3 (P215L +1 more) | Single nucleotide variant (missense variant) | Enchondromatosis | |
| | HIF1A, HIF1A-AS3 (E234K +1 more) | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | HIF1A, HIF1A-AS3 (T241N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | HIF1A, HIF1A-AS3 (E261K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (T290S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | HIF1A, HIF1A-AS3 (Q347R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (D349N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | HIF1A, HIF1A-AS3 (Q355H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (V364A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | HIF1A, HIF1A-AS3 (T418I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | HIF1A, HIF1A-AS3 (D422Y +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | HIF1A, HIF1A-AS3 (V452I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (L454S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (M459T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (E457K +1 more) | Single nucleotide variant (missense variant) | Maffucci syndrome | |
| | HIF1A, HIF1A-AS3 (M515V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (P499L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | HIF1A, HIF1A-AS3 (D524E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (S525G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (V528A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (T544K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (D578N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | HIF1A, HIF1A-AS3 (P582S +1 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | HIF1A, HIF1A-AS3 (A588T +1 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | HIF1A, HIF1A-AS3 (S613T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (Q596H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (T622P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | HIF1A, HIF1A-AS3 (R631H +1 more) | Single nucleotide variant (missense variant) | Enchondromatosis | |
| | HIF1A, HIF1A-AS3 (A654V +1 more) | Single nucleotide variant (missense variant) | Maffucci syndrome | |
| | HIF1A, HIF1A-AS3 (T679I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (R665W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (R689Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (R695G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (Q679E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (S692C +1 more) | Single nucleotide variant (missense variant) | Enchondromatosis | |
| | HIF1A, HIF1A-AS3 (V693I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | HIF1A, HIF1A-AS3 (V732I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | HIF1A, HIF1A-AS3 (A804G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HIF1A, HIF1A-AS3 (I830V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | HIF1A, HIF1A-AS2 +1 more (L813P +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 14q22.2q24.3 duplication | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |