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Table 2 Duplications involving the VAMP7, SPRY3 and IL9R genes, highlighted alone or together with other CNVs in the same patient as reported in the ClinGen database. The phenotype highlighted in each case, the size of the CNV and its classification/interpretation is also reported

From: Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report

NSSV-NSVCNV sizeGenes involvedPhenotypeN° of CNVClassification
581510–529342195,2 KbSYBL1-SPRY3Autism1unknown
581511–532993305 KbSYBL1-SPRY3-IL9RDevelopmental delay1unknown
581512–532924285,9 KbSYBL1-SPRY3Developmental delay1unknown
1604719–915617258,2 KbSYBL1-SPRY3-IL9R (part.)Developmental delay3likely benign
1601341–915617258,2 KbSYBL1-SPRY3-IL9R (part.)Autism3likely benign
1603110–916312115,6 KbSYBL1 (part.)-SPRY3 (part.)Developmental delay1likely benign
581513–532995185,2 KbSYBL1-SPRY3 (part.)Behavioral anomalies1unknown
1609838–931742131,4 KbSYBL1 (part.)-IL9RDevelopmental delay1benign