| | | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (R85H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (E199K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (P467L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (Y309C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (G304V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC112577491, LOC112577504 +2149 more | Copy number gain | Trisomy 12p | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | AZIN2, TRIM62 +1 more (K40R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (P301L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (R474H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (R206C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (H248N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (D214N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (D119N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (A156V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (L130P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AZIN2, TRIM62 +1 more (R192H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | AZIN2, TRIM62 +1 more (V473I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number loss | not provided | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129929733, LOC129929734 +1145 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |