ClinVar Miner

List of variants in gene CNTNAP2 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
GRCh37/hg19 7q35(chr7:146333770-146445991)x1
GRCh37/hg19 7q35(chr7:147006667-147101307)x1
GRCh38/hg38 7q35(chr7:146649010-146778666)x1
GRCh38/hg38 7q35(chr7:146687000-147056525)x1
GRCh38/hg38 7q35(chr7:146713626-146913128)x1
GRCh38/hg38 7q35(chr7:147044014-147073985)x1
NM_014141.6(CNTNAP2):c.1651_1652del (p.Met551fs) rs1064796071
NM_014141.6(CNTNAP2):c.1778-1G>C rs1396313317
NM_014141.6(CNTNAP2):c.2096dup (p.Asp700fs) rs1554416016
NM_014141.6(CNTNAP2):c.2391T>G (p.Tyr797Ter) rs562833882
NM_014141.6(CNTNAP2):c.3382-2A>C rs1085307838
NM_014141.6(CNTNAP2):c.3657_3669dup (p.Met1224fs) rs770489662
NM_014141.6(CNTNAP2):c.778_782delinsGGGA (p.Tyr260fs) rs1554440668
Single allele

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.