| | | Copy number gain | See cases | |
| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC130001533, LOC130001534 +1213 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | DAPK1-IT1, DCAF10 +1366 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001589, LOC130001590 +458 more | Copy number gain | See cases | |
| | LOC130001787, LOC130001788 +983 more | Copy number gain | See cases | |
| | LOC130001685, LOC130001686 +898 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC129929032, LOC130001435 +538 more | Copy number gain | See cases | |
| | LOC126860590, LOC126860591 +897 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001651, LOC130001652 +585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001669, LOC130001670 +690 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Duplication (5 prime UTR variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, E | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Duplication (frameshift variant +1 more) | Glaucoma 3, primary congenital, E | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | TEK-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple cutaneous and mucosal venous malformations | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | TEK-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Glaucoma 3, primary congenital, E | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_indel +1 more) | TEK-related condition | |
| | | Single nucleotide variant (nonsense) | Glaucoma 3, primary congenital, E | |
| | | Insertion (frameshift variant) | Glaucoma 3, primary congenital, E | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, E | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Multiple cutaneous and mucosal venous malformations | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | Glaucoma 3, primary congenital, E +2 more | |
| | | Microsatellite (intron variant) | TEK-related condition | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, E | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Multiple cutaneous and mucosal venous malformations +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Glaucoma 3, primary congenital, E | |
| | | Single nucleotide variant (missense variant +1 more) | Glaucoma 3, primary congenital, E | |