| | GHRL, GHRLOS (A56S +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GHRL, GHRLOS (R57H +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GHRL, GHRLOS (W43L +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | ARPC4, ARPC4-TTLL3 +40 more | Copy number loss | not specified | |
| | ARPC4, ARPC4-TTLL3 +23 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GHRL, GHRLOS +1 more (V23I) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | | Deletion | Myoclonic-astatic epilepsy | |
| | GHRL, GHRLOS (V77I +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | GHRL, GHRLOS (F68S +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | GHRL, GHRLOS (I104N +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | GHRL, GHRLOS (K34fs +4 more) | Deletion (frameshift variant) | Obesity | |
| | FANCD2OS, THUMPD3 +148 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | ARPC4, ARPC4-TTLL3 +38 more | Duplication | Atrioventricular septal defect, susceptibility to, 2 | |
| | | 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 | |
| | GHRL, GHRLOS (P46L +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +39 more | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +307 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936144, LOC129936145 +271 more | Copy number loss | See cases | |
| | ATP2B2, ATP2B2-IT1 +36 more | Copy number loss | See cases | |
| | LOC129936377, LOC129936378 +1111 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112935932, LOC112935963 +331 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936094, LOC129936095 +647 more | Copy number gain | See cases | |
| | LOC129936140, LOC129936141 +58 more | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +118 more | Copy number loss | See cases | |
| | LOC129929025, LOC129929026 +190 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +146 more | Copy number gain | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | GHRELIN POLYMORPHISM | |
| | GHRL, GHRLOS (Q90L +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | GHRL, GHRLOS (L72M +3 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | GHRL, GHRLOS (R51Q +3 more) | Single nucleotide variant (missense variant +1 more) | Obesity +1 more | |