| | DLEU2, TRIM13 (Q111H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, TRIM13 (F309L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, TRIM13 (E337G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, KCNRG +1 more (R117Q) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DLEU2, KCNRG +1 more (V110G) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DLEU2, TRIM13 (D295G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, TRIM13 (R160H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, TRIM13 (C117G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, TRIM13 (P52A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | DLEU2, KCNRG +1 more (R30C) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DLEU2, KCNRG +1 more (L163S) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DLEU2, KCNRG +1 more (R92C) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | DLEU2, TRIM13 (D180H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, TRIM13 (E190D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DLEU2, TRIM13 (I85T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, TRIM13 (L102F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, KCNRG +1 more (M161L) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | DLEU2, KCNRG +1 more (D78G) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DLEU2, KCNRG +1 more (R38K) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DLEU2, TRIM13 (A214V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, KCNRG +1 more (L70V) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DLEU2, TRIM13 (S355T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, KCNRG +1 more (M44T) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DLEU2, KCNRG +1 more (I15T) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DLEU2, TRIM13 (M113T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DLEU2, KCNRG +1 more (R139G) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | DLEU2, TRIM13 (A274T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Complete trisomy 13 syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Chromosome 13q14 deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GTF2F2, LINC00567 +332 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861859, LOC126861860 +2025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009607, LOC130009608 +2029 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126861769, LOC126861770 +437 more | Copy number loss | See cases | |
| | LOC130009665, LOC130009659 +612 more | Copy number loss | See cases | |
| | LOC130009892, LOC130009893 +2050 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009611, LOC130009612 +938 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009942, LOC130009943 +733 more | Copy number loss | See cases | |
| | LOC130009600, LOC130009601 +735 more | Copy number gain | See cases | |
| | ATP8A2, ATXN8OS +2049 more | Copy number loss | See cases | |
| | LOC130009383, LOC130009384 +2022 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00400, LINC02333 +604 more | Copy number loss | See cases | |
| | ARHGEF7-AS1, ARHGEF7-AS2 +1268 more | Copy number gain | See cases | |
| | LOC130009917, LOC130009918 +1288 more | Copy number gain | See cases | |
| | LOC130009687, LOC130009688 +1557 more | Copy number gain | See cases | |
| | LOC130009567, LOC130009568 +1005 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2025 more | Copy number gain | See cases | |
| | LOC130009309, LOC130009310 +2041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009819, LOC130009820 +2048 more | Copy number gain | See cases | |
| | LOC126861771, LOC126861772 +215 more | Copy number loss | See cases | |
| | LOC130009620, LOC130009621 +781 more | Copy number loss | See cases | |
| | LOC130009879, LOC130009880 +657 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |