| | 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 | |
| | 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 | |
| | ABCC5, ABCC5-AS1 +399 more | Copy number loss | See cases | |
| | ABCC5, ABCC5-AS1 +205 more | Copy number loss | See cases | |
| | LOC121048724, LOC121048725 +160 more | Copy number loss | Esodeviation +7 more | |
| | ABCC5, ABCC5-AS1 +126 more | Copy number loss | See cases | |
| | ADIPOQ, ADIPOQ-AS1 +131 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | 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 (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | 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 | |
| | | 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 | |
| | LOC126806894, MAP3K13 (S373R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (R585Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (R589C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (R589H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (R591H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (S408T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (P422T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (S649P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (H445Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (H446R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (G674S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (G486S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (S487L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (R529K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (V544E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (P558T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (L766V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (G584S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (S586P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (L795F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (A800V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806894, MAP3K13 (R599K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806895, MAP3K13 (C838Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806895, MAP3K13 (I632T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806895, MAP3K13 (D658G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806895, MAP3K13 (R673C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806895, MAP3K13 (E883K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806895, MAP3K13 (T685A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806895, MAP3K13 (R915C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC110121069, LOC110121110 +557 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Isolated anorectal malformation | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Short stature | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |