ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_001142771.2(PCDH15):c.4497+1046A>G rs201855435
NM_001142771.2(PCDH15):c.4497+1449_4497+1457dup rs752753497
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_033056.4(PCDH15):c.1427C>T (p.Thr476Ile) rs967946862
NM_033056.4(PCDH15):c.19C>A (p.Leu7Ile) rs762092314
NM_033056.4(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2897G>C (p.Arg966Thr) rs568865061
NM_033056.4(PCDH15):c.3964G>C (p.Asp1322His) rs1411262816
NM_033056.4(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.949T>A (p.Ser317Thr) rs140736502

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.