List of variants reported as likely pathogenic for Autistic behavior; Severe global developmental delay by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 2q24.2(chr2:161561653-163178787)
GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_006593.4(TBR1):c.1639_1648dup (p.Pro550fs)	rs1553511216
NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs)	rs1553511226
NM_006593.4(TBR1):c.673A>T (p.Ile225Phe)	rs1553510217
NM_006593.4(TBR1):c.811T>C (p.Trp271Arg)	rs1553510301
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.