List of variants in gene MED12 reported as likely pathogenic for blepharophimosis - intellectual disability syndrome

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)	rs765417606	0.00009
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)	rs2092288110	0.00001
NM_005120.3(MED12):c.1248+3A>G	rs2147782173
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	rs1057523906
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)	rs2147805923
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)	rs727503868
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser)	rs2092334822
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg)	rs2092347481
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	rs1556334519

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.