| | LOC108663996, TBP (Q57fs +1 more) | Deletion (frameshift 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 (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Copy number loss | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Microsatellite (inframe_insertion) | Spinocerebellar ataxia type 17 | |
| | LOC108663996, TBP (Q62H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC108663996, TBP (Q47R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TBP, LOC108663996 (Q92H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TBP, LOC108663996 (Q62H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC108663996, TBP (Q52fs +1 more) | Deletion (frameshift variant) | not specified | |
| | LOC108663996, TBP (Q57fs +1 more) | Deletion (frameshift variant) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Insertion (inframe_indel) | not provided +1 more | |
| | LOC108663996, TBP (Q57fs +1 more) | Deletion (frameshift variant) | not specified | |
| | LOC108663996, TBP (Q75del +1 more) | Deletion (inframe_deletion) | not specified | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | LOC108663996, TBP (Q55fs +1 more) | Insertion (frameshift variant) | Spinocerebellar ataxia type 17 | |
| | TBP, LOC108663996 (Q95del +1 more) | Microsatellite (inframe_deletion) | not specified | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | Microsatellite | Spinocerebellar ataxia type 17 +1 more | |
| | LOC108663996, TBP (Q95del +1 more) | Deletion (inframe_deletion) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | LOC108663996, TBP (Q77fs +1 more) | Deletion (frameshift variant) | not specified +1 more | |
| | | Indel | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC108663996, LOC129997715 +5 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129997593, LOC129997594 +563 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 | |
| | LOC126859904, LOC126859905 +112 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859906, LOC126859907 +539 more | Copy number loss | See cases | |
| | LOC108663996, LOC110121051 +6 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129997705, LOC129997706 +203 more | Copy number loss | See cases | |
| | LOC129997709, LOC129997710 +297 more | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Indel | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 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 | |
| | LOC129997712, LOC129997713 +299 more | Copy number loss | See cases | |
| | LOC113174973, LOC116183078 +321 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129997707, LOC129997708 +548 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC108663996, LOC129997715 +5 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC108663996, LOC126859915 +5 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |