| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000086, LOC130000087 +932 more | Copy number gain | See cases | |
| | LOC121331299, LOC121331300 +868 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000305, LOC130000306 +927 more | Copy number gain | See cases | |
| | LOC130000069, LOC130000070 +868 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000275, LOC130000276 +927 more | Copy number gain | See cases | |
| | LOC101929258, LOC101929470 +920 more | Copy number gain | See cases | |
| | LOC113788273, LOC113788274 +805 more | Copy number gain | See cases | |
| | LOC129999948, LOC129999949 +855 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000249, LOC130000250 +789 more | Copy number gain | See cases | |
| | TNFRSF10A, TNFRSF10A-DT +920 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC124174256, LOC124174257 +541 more | Copy number gain | See cases | |
| | | Copy number loss | Hypogonadotropic hypogonadism 2 with or without anosmia | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Deletion (3 prime UTR variant) | Congenital adrenal hyperplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Duplication (3 prime UTR variant) | Congenital adrenal hyperplasia | |
| | | Deletion (3 prime UTR variant) | Congenital adrenal hyperplasia | |
| | | Deletion (3 prime UTR variant) | Congenital adrenal hyperplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (splice acceptor variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Indel (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |