| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938007, LOC129938008 +1317 more | Copy number gain | See cases | |
| | LOC129938312, LOC129938313 +1246 more | Copy number gain | See cases | |
| | LOC129937897, LOC129937898 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938326, LOC129938327 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938320, LOC129938321 +1041 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +867 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Currarino triad | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KCNMB2, KCNMB2-AS1 (V118I) | Single nucleotide variant (missense variant) | not specified | |
| | KCNMB2, KCNMB2-AS1 (Y144C) | Single nucleotide variant (missense variant) | not specified | |
| | KCNMB2, KCNMB2-AS1 (G149R) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNMB2, KCNMB2-AS1 (R235K) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | Isolated anorectal malformation | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |