| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PRKAG2, PRKAG2-AS1 +1052 more | Copy number gain | See cases | |
| | LOC129389895, LOC129389896 +1046 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRC-GCA9-3, TRC-GCA9-4 +1019 more | Copy number gain | See cases | |
| | LOC129999635, LOC129999636 +944 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | EPHA1-AS1, EPHB6 +888 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129999716, LOC129999717 +847 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | LOC129999721, LOC129999722 +707 more | Copy number loss | See cases | |
| | LOC129999681, LOC129999682 +573 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999684, LOC129999685 +538 more | Copy number loss | See cases | |
| | LOC129999655, LOC129999656 +533 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GIMAP1-GIMAP5, GIMAP5 (L18F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GIMAP1-GIMAP5, GIMAP5 (V151I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GIMAP1-GIMAP5, GIMAP5 (S157T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GIMAP1-GIMAP5, GIMAP5 (R40K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GIMAP1-GIMAP5, GIMAP5 (G54R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GIMAP1-GIMAP5, GIMAP5 (D67E +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GIMAP5, GIMAP1-GIMAP5 (I123T +2 more) | Single nucleotide variant (missense variant) | Portal hypertension, noncirrhotic, 2 +1 more | GPathogenic/Likely pathogenic |
| | GIMAP1-GIMAP5, GIMAP5 (E299Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP1-GIMAP5, GIMAP5 (P109L +2 more) | Single nucleotide variant (missense variant) | Portal hypertension, noncirrhotic, 2 +1 more | GPathogenic/Likely pathogenic |
| | GIMAP1-GIMAP5, GIMAP5 (L149V +2 more) | Single nucleotide variant (missense variant) | EBV-positive nodal T- and NK-cell lymphoma | |
| | GIMAP1-GIMAP5, GIMAP5 (R382W +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP5, GIMAP1-GIMAP5 (R254Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GIMAP1-GIMAP5, GIMAP5 (L280P +1 more) | Single nucleotide variant (missense variant) | Portal hypertension, noncirrhotic, 2 +1 more | GConflicting classifications of pathogenicity |
| | GIMAP1-GIMAP5, GIMAP5 (L223F +2 more) | Single nucleotide variant (missense variant) | Portal hypertension, noncirrhotic, 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | Long QT syndrome | |
| | | Deletion | Long QT syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | LOC100134040, LRRC61 +40 more | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | 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 | |
| | | Deletion | Long QT syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Abnormal esophagus morphology | |