| | HSD11B1, HSD11B1-AS1 (I121V) | Single nucleotide variant (missense variant) | not specified | |
| | RPS6KC1, SERTAD4 +185 more | Deletion | not provided | |
| | HSD11B1, HSD11B1-AS1 (T282M) | Single nucleotide variant (missense variant) | not specified | |
| | HSD11B1, HSD11B1-AS1 (V136E) | Single nucleotide variant (missense variant) | not specified | |
| | HSD11B1, HSD11B1-AS1 (T97S) | Single nucleotide variant (missense variant) | not specified | |
| | HSD11B1, HSD11B1-AS1 (Y88H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | HSD11B1-related disorder | |
| | HSD11B1, HSD11B1-AS1 (V227fs) | Insertion (frameshift variant) | Exstrophy-epispadias complex | |
| | HSD11B1, HSD11B1-AS1 (G216A) | Single nucleotide variant (missense variant) | not specified | |
| | HSD11B1, HSD11B1-AS1 (G107A) | Single nucleotide variant (missense variant) | not specified | |
| | HSD11B1, HSD11B1-AS1 (P10L) | Single nucleotide variant (missense variant) | not specified | |
| | HSD11B1, HSD11B1-AS1 (V168I) | Single nucleotide variant (missense variant) | not specified | |
| | HSD11B1, HSD11B1-AS1 (S161N) | Single nucleotide variant (missense variant) | not specified | |
| | HSD11B1, HSD11B1-AS1 (A236V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806029, LOC129932471 +720 more | Copy number loss | Orofacial cleft 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | C1orf35, C1orf74 +320 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Global developmental delay +2 more | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Copy number loss | See cases | |
| | AVPR1B, B3GALNT2 +393 more | Copy number gain | See cases | |
| | | Duplication (intron variant) | Cortisone reductase deficiency 2 | |
| | | Single nucleotide variant (intron variant) | Cortisone reductase deficiency 2 +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129388734, LOC129388735 +723 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC120908923, LOC120947224 +1352 more | Copy number gain | See cases | |
| | LOC129932539, LOC129932540 +1148 more | Copy number gain | See cases | |
| | HSD11B1, HSD11B1-AS1 (K187N) | Single nucleotide variant (missense variant) | Cortisone reductase deficiency 2 | |
| | HSD11B1, HSD11B1-AS1 (R137C) | Single nucleotide variant (missense variant) | Cortisone reductase deficiency 2 | |
| | | Single nucleotide variant (intron variant) | Cortisone reductase deficiency 2 | |