| | | Copy number gain | See cases | |
| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999850, LOC129999851 +1038 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999981, LOC129999982 +996 more | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999854, LOC129999889 +720 more | Copy number loss | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | LOC126860289, LOC126860290 +773 more | Copy number loss | See cases | |
| | LOC129999803, LOC129999804 +1018 more | Copy number gain | See cases | |
| | LOC129999922, LOC129999923 +694 more | Copy number gain | See cases | |
| | LOC130000263, LOC130000264 +935 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113788274, LOC114827823 +510 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089594, LOC132089595 +663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000231, LOC130000232 +927 more | Copy number gain | See cases | |
| | LOC126860340, LOC126860341 +927 more | Copy number gain | See cases | |
| | LOC130000118, LOC130000119 +703 more | Copy number gain | See cases | |
| | LOC130000005, LOC130000006 +868 more | Copy number gain | See cases | |
| | LOC121740715, LOC124049166 +816 more | Copy number gain | See cases | |
| | LOC130000093, LOC130000094 +927 more | Copy number gain | See cases | |
| | LOC124153130, LOC124153131 +651 more | Copy number gain | See cases | |
| | LOC132090784, LOC132205969 +567 more | Copy number loss | Microcephaly | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000259, LOC130000260 +805 more | Copy number gain | See cases | |
| | LOC129999968, LOC129999969 +855 more | Copy number gain | See cases | |
| | LOC130000066, LOC130000067 +920 more | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFRSF10A, TNFRSF10A-DT +920 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | GPAT4, GPAT4-AS1 +3106 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 | |
| | | Single nucleotide variant (missense variant) | NKX2-6-related condition | |
| | | 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) | not provided +3 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 (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 (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) | Persistent truncus arteriosus | |
| | | 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 condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +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 condition | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | NKX2-6-related condition | |
| | | Duplication (inframe_insertion) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |