| | ATP8A2, ATXN8OS +2049 more | Copy number loss | See cases | |
| | LOC130009892, LOC130009893 +2050 more | Copy number gain | See cases | |
| | LOC130009819, LOC130009820 +2048 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009309, LOC130009310 +2041 more | Copy number gain | See cases | |
| | LOC130009607, LOC130009608 +2029 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009383, LOC130009384 +2022 more | Copy number gain | See cases | |
| | LOC126861859, LOC126861860 +2025 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2025 more | Copy number gain | See cases | |
| | LOC130009567, LOC130009568 +1005 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009611, LOC130009612 +938 more | Copy number gain | See cases | |
| | LOC130009687, LOC130009688 +1557 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009942, LOC130009943 +733 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009917, LOC130009918 +1288 more | Copy number gain | See cases | |
| | ARHGEF7-AS1, ARHGEF7-AS2 +1268 more | Copy number gain | See cases | |
| | LOC130009879, LOC130009880 +657 more | Copy number loss | See cases | |
| | | Deletion | Chromosome 13q14 deletion syndrome | |
| | | 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 | |
| | LINC01078, LOC124909502 +9 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | TBC1D4-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | TBC1D4-related disorder | |
| | | Single nucleotide variant (nonsense +1 more) | TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126861801, TBC1D4 (R665C) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861801, TBC1D4 (H641Y) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861801, TBC1D4 (P619L) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LOC126861801, TBC1D4 (Y604D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | TBC1D4-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |