ClinVar Miner

List of variants in gene MED13L reported as likely pathogenic for Mental retardation and distinctive facial features with or without cardiac defects

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
NM_015335.4(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.4(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.4(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.4(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.4(MED13L):c.5588+1G>A rs1135401810
NM_015335.4(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.4(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.2996+1G>A
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs)
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)

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.