| | LOC101929460, LOC102724087 +572 more | Copy number gain | See cases | |
| | LOC129997640, LOC129997641 +564 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859858, LOC126859859 +340 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129997629, LOC129997630 +323 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | LOC129997659, LOC129997660 +248 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | FAM120B, LOC110121051 +9 more | Duplication | Primary amenorrhea | |
| | LOC108663996, LOC110121051 +6 more | Copy number gain | See cases | |
| | LOC108663996, LOC126859915 +5 more | Copy number gain | See cases | |
| | LOC108663996, LOC129997715 +5 more | Copy number gain | See cases | |
| | LOC108663996, LOC129997715 +5 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite | Spinocerebellar ataxia type 17 +1 more | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | LOC108663996, TBP (Q47R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | not provided | |
| | LOC108663996, TBP (Q95del +1 more) | Deletion (inframe_deletion) | Spinocerebellar ataxia type 17 +1 more | |
| | LOC108663996, TBP (Q52fs +1 more) | Deletion (frameshift variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | LOC108663996, TBP (Q75del +1 more) | Deletion (inframe_deletion) | not specified | |
| | LOC108663996, TBP (Q55fs +1 more) | Insertion (frameshift variant) | Spinocerebellar ataxia type 17 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_insertion) | Spinocerebellar ataxia type 17 | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | TBP, LOC108663996 (Q95del +1 more) | Microsatellite (inframe_deletion) | not specified | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | Indel | not specified | |
| | | Indel | not provided | |
| | | Insertion (inframe_indel) | not provided +1 more | |
| | LOC108663996, TBP (Q77fs +1 more) | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | LOC108663996, TBP (Q57fs +1 more) | Deletion (frameshift variant) | not provided | |
| | LOC108663996, TBP (Q57fs +1 more) | Deletion (frameshift variant) | not provided +1 more | |
| | LOC108663996, TBP (Q57fs +1 more) | Deletion (frameshift variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC108663996, TBP (Q62H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC108663996, TBP (Q62H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC108663996, TBP (Q90R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC108663996, TBP (Q92H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | TBP-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |