| | | Copy number gain | See cases | |
| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000099, LOC130000100 +1040 more | Copy number gain | See cases | |
| | LOC130000032, LOC130000033 +1105 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |
| | LOC129999950, LOC129999951 +996 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999950, LOC129999951 +736 more | Copy number gain | See cases | |
| | LOC126860300, LOC126860301 +720 more | Copy number loss | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860319, LOC126860320 +696 more | Copy number gain | See cases | |
| | LOC130000106, LOC130000107 +937 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089588, LOC132089589 +510 more | Copy number loss | See cases | |
| | LOC130000241, LOC130000242 +934 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999967, LOC129999968 +870 more | Copy number gain | See cases | |
| | KAT6A-AS1, KCNU1 +929 more | Copy number gain | See cases | |
| | LOC130000074, LOC130000075 +929 more | Copy number gain | See cases | |
| | TNFRSF10A, TNFRSF10A-DT +705 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124153144, LOC124153145 +818 more | Copy number gain | See cases | |
| | LOC113788268, LOC113788269 +929 more | Copy number gain | See cases | |
| | LOC128772328, LOC129389957 +653 more | Copy number gain | See cases | |
| | | Copy number loss | Microcephaly | |
| | | Copy number gain | See cases | |
| | LOC130000303, LOC130000304 +922 more | Copy number gain | See cases | |
| | LOC113788272, LOC113788273 +807 more | Copy number gain | See cases | |
| | LOC130000012, LOC130000013 +857 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000050, LOC130000051 +791 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000309, LOC130000310 +900 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000041, LOC130000042 +2 more | Duplication | Primary amenorrhea | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +1 more | |
| | | Single nucleotide variant (missense variant) | NKX2-6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations +2 more | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +1 more | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (nonsense) | NKX2-6-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Duplication (frameshift variant) | Cerebral palsy +1 more | GLikely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Insertion (nonsense) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | NKX2-6-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +2 more | |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Deletion (frameshift variant) | NKX2-6-related disorder | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations +2 more | |
| | | Single nucleotide variant (missense variant) | NKX2-6-related disorder | |