ClinVar Miner

List of variants reported as uncertain significance for X-linked intellectual disability with marfanoid habitus by 3billion

Included ClinVar conditions (7):

Syndromic X-linked intellectual disability 14
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability with marfanoid habitus; Blepharophimosis - intellectual disability syndrome, MKB type; FG syndrome
X-linked intellectual disability with marfanoid habitus; FG syndrome 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome; MED12-related intellectual disability syndrome

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.1746G>A (p.Thr582=)	rs773240125	0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)	rs2092288110	0.00001
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	rs863223696

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.