| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | LOC130067651, LOC130067652 +1004 more | Copy number gain | See cases | |
| | LOC130067596, LOC130067597 +687 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863184, LOC126863185 +541 more | Copy number gain | See cases | |
| | LOC130067605, LOC130067606 +303 more | Copy number gain | See cases | |
| | LOC126863187, LOC126863188 +523 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant) | Craniosynostosis-anal anomalies-porokeratosis syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | Craniosynostosis-anal anomalies-porokeratosis syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | Craniosynostosis-anal anomalies-porokeratosis syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | Spinocerebellar ataxia, autosomal recessive 33 | |
| | | Single nucleotide variant (non-coding transcript variant) | Craniosynostosis-anal anomalies-porokeratosis syndrome | |
| | | Single nucleotide variant | Craniosynostosis-anal anomalies-porokeratosis syndrome | |
Click to view in NCBI Gene