| | | Copy number gain | See cases | |
| | LOC129936094, LOC129936095 +647 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936377, LOC129936378 +1111 more | Copy number gain | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HDAC11, LOC126806611 +244 more | Deletion | 3p- syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | 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 (5 prime UTR variant +3 more) | Biotinidase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (nonsense +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant +3 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Biotinidase deficiency | |
| | | Deletion (frameshift variant +3 more) | Biotinidase deficiency | |
| | | Deletion (splice donor variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (nonsense +3 more) | Biotinidase deficiency | |
| | | Deletion (splice donor variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (splice donor variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Biotinidase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Duplication (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Deletion (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Duplication (intron variant) | Biotinidase deficiency | |
| | | Duplication (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | BTD-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Deletion (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant) | Biotinidase deficiency | |
| | | Deletion (frameshift variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Indel (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Biotinidase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant) | Biotinidase deficiency | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Biotinidase deficiency | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Biotinidase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Biotinidase deficiency | |
| | | Duplication (frameshift variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Biotinidase deficiency | |
| | | Deletion (frameshift variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant) | BTD-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |