ClinVar Miner

List of variants in gene MED13L studied 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: 87
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
NC_000012.12:g.(?_115982183)_(116022795_?)del
NM_015335.4(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.4(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.4(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.4(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.4(MED13L):c.1904G>A (p.Ser635Asn) rs144457722
NM_015335.4(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.4(MED13L):c.2059C>T (p.Gln687Ter) rs1555247699
NM_015335.4(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.4(MED13L):c.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.4(MED13L):c.2399dup (p.Thr801fs) rs1135401766
NM_015335.4(MED13L):c.2504del (p.Pro835fs) rs1555246952
NM_015335.4(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.4(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.4(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.4(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.4(MED13L):c.3518G>T (p.Gly1173Val) rs773730403
NM_015335.4(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.4(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.4(MED13L):c.4452del (p.Phe1484fs) rs1555243582
NM_015335.4(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.4(MED13L):c.480-1G>T rs869025288
NM_015335.4(MED13L):c.4956-2A>C rs1057518705
NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer) rs1555250044
NM_015335.4(MED13L):c.5173C>T (p.Gln1725Ter) rs1135401765
NM_015335.4(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.4(MED13L):c.5588+1G>A rs1135401810
NM_015335.4(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160
NM_015335.4(MED13L):c.607dup (p.Ser203fs) rs869025291
NM_015335.4(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015335.4(MED13L):c.6155A>C (p.Asn2052Thr) rs766487372
NM_015335.4(MED13L):c.6260del (p.Pro2087fs) rs1565982697
NM_015335.4(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.4(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.1175+20T>C
NM_015335.5(MED13L):c.1496dup (p.Met499fs)
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met)
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.1910G>A (p.Arg637His)
NM_015335.5(MED13L):c.2061G>T (p.Gln687His)
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg)
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu)
NM_015335.5(MED13L):c.2318del (p.Ser773fs)
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys)
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val)
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.2996+1G>A
NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu)
NM_015335.5(MED13L):c.3227G>A (p.Ser1076Asn)
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val)
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4083del (p.Gln1361fs)
NM_015335.5(MED13L):c.4114+2T>A
NM_015335.5(MED13L):c.4120del (p.Glu1374fs)
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs)
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr)
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter)
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln)
NM_015335.5(MED13L):c.4622del (p.Thr1541fs)
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro)
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs)
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His)
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) rs1555243059
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val)
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter)
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del)
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs)
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile)
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)
NM_015335.5(MED13L):c.5949_5950del (p.Gln1984fs) rs869025289
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
NM_015335.5(MED13L):c.6226-1G>C
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015335.5(MED13L):c.760_1175+967del
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser)

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.