| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Duplication (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency +1 more | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Insertion (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency +1 more | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency +1 more | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency +1 more | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Deletion (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency +1 more | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency +1 more | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase excess syndrome +2 more | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (3 prime UTR variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more (R499S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more (D498N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more (S478F) | Single nucleotide variant (missense variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more (V460M) | Single nucleotide variant (missense variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more (R457Q) | Single nucleotide variant (missense variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more (A443T) | Single nucleotide variant (missense variant) | not specified | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP19A1, MIR4713HG +1 more (C437Y) | Single nucleotide variant (missense variant) | Aromatase deficiency | |
| | CYP19A1, MIR4713HG +1 more (R435C) | Single nucleotide variant (missense variant) | not provided | |