| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Aicardi-Goutieres syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not specified | |
| | | Deletion | Bardet-Biedl syndrome +1 more | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Cutis laxa, autosomal recessive, type 1B | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Nestor-Guillermo progeria syndrome | |
| | | Duplication (5 prime UTR variant) | Nestor-Guillermo progeria syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Nestor-Guillermo progeria syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Nestor-Guillermo progeria syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Nestor-Guillermo progeria syndrome | |
| | | Copy number loss | See cases | |
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