ClinVar Miner

List of variants in gene MED13L reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1
GRCh37/hg19 12q24.21(chr12:116443463-116457804)x1
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
GRCh37/hg19 12q24.21(chr12:116481669-116569556)x1
GRCh37/hg19 12q24.21(chr12:116484240-116564043)
GRCh37/hg19 12q24.21(chr12:116503127-116558092)x1
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 12q24.21(chr12:116534474-116549317)x1
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
NC_000012.12:g.(?_115961246)_(116096772_?)del
NC_000012.12:g.(?_115982183)_(116022795_?)del
NM_015335.4(MED13L):c.1109_1110del (p.Pro370fs) rs1566011496
NM_015335.4(MED13L):c.1186del (p.Met396fs) rs1064794013
NM_015335.4(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.4(MED13L):c.1336C>T (p.Gln446Ter) rs886041503
NM_015335.4(MED13L):c.1361C>G (p.Ser454Ter) rs1555248020
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.1971del (p.Asp657fs) rs1555247805
NM_015335.4(MED13L):c.1992dup (p.Glu665fs) rs1057518424
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.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.4(MED13L):c.2239-2A>G rs1555247469
NM_015335.4(MED13L):c.2316_2317del (p.Met772fs) rs1566005476
NM_015335.4(MED13L):c.2399dup (p.Thr801fs) rs1135401766
NM_015335.4(MED13L):c.2504del (p.Pro835fs) rs1555246952
NM_015335.4(MED13L):c.2524C>T (p.Arg842Ter) rs1064793483
NM_015335.4(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.4(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.4(MED13L):c.263G>A (p.Trp88Ter)
NM_015335.4(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) rs1565997261
NM_015335.4(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.4(MED13L):c.4051C>T (p.Gln1351Ter) rs1057524341
NM_015335.4(MED13L):c.4060C>T (p.Gln1354Ter) rs1565995054
NM_015335.4(MED13L):c.4077G>A (p.Trp1359Ter) rs1565995034
NM_015335.4(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.4(MED13L):c.4452del (p.Phe1484fs) rs1555243582
NM_015335.4(MED13L):c.4577del (p.Pro1526fs) rs1057518262
NM_015335.4(MED13L):c.4609C>T (p.Gln1537Ter) rs1555243400
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.5083dup (p.Ser1695fs) rs1555243086
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.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.4(MED13L):c.5285del (p.Leu1762fs) rs886043314
NM_015335.4(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.4(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015335.4(MED13L):c.5588+1G>A rs1135401810
NM_015335.4(MED13L):c.5589-1G>A rs1064796543
NM_015335.4(MED13L):c.5615G>A (p.Arg1872His) rs28940310
NM_015335.4(MED13L):c.5866C>T (p.Gln1956Ter) rs1565985681
NM_015335.4(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
NM_015335.4(MED13L):c.6068A>G (p.Asp2023Gly) rs121918333
NM_015335.4(MED13L):c.6073dup (p.Met2025fs) rs1131691386
NM_015335.4(MED13L):c.607dup (p.Ser203fs) rs869025291
NM_015335.4(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015335.4(MED13L):c.626-2A>G rs1555249664
NM_015335.4(MED13L):c.6260del (p.Pro2087fs) rs1565982697
NM_015335.4(MED13L):c.6280C>A (p.Pro2094Thr) rs1555240376
NM_015335.4(MED13L):c.6284dup (p.Ala2096fs) rs886041624
NM_015335.4(MED13L):c.6331C>T (p.Gln2111Ter) rs1555240361
NM_015335.4(MED13L):c.6336G>A (p.Trp2112Ter) rs1555240359
NM_015335.4(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.4(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.4(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.4(MED13L):c.73-1G>A rs1555225472
NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.4(MED13L):c.878del (p.Pro293fs) rs1555249561
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs)
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
NM_015335.5(MED13L):c.1405dup (p.Thr469fs)
NM_015335.5(MED13L):c.1420G>T (p.Glu474Ter)
NM_015335.5(MED13L):c.1496dup (p.Met499fs)
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter)
NM_015335.5(MED13L):c.1852dup (p.Tyr618fs)
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs) rs1592941857
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)
NM_015335.5(MED13L):c.2090_2091insGAGCCACT (p.Asp697fs)
NM_015335.5(MED13L):c.2318del (p.Ser773fs)
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs)
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.293_294del (p.Ile98fs)
NM_015335.5(MED13L):c.34del (p.Ala12fs) rs1593238375
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs) rs1555244975
NM_015335.5(MED13L):c.401dup (p.Met135fs) rs1593039493
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4083del (p.Gln1361fs)
NM_015335.5(MED13L):c.4120del (p.Glu1374fs)
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter)
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs)
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter)
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs) rs1592915896
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter)
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)
NM_015335.5(MED13L):c.4467_4473del (p.Ser1489fs)
NM_015335.5(MED13L):c.4622del (p.Thr1541fs)
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter)
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs)
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs)
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) rs1555243059
NM_015335.5(MED13L):c.5365-1G>A
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter)
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.627dup (p.Leu210fs)
NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter)
NM_015335.5(MED13L):c.6388-2A>G rs1592891007
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter)
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015335.5(MED13L):c.760_1175+967del
NM_015335.5(MED13L):c.82dup (p.Thr28fs)
t(12;19)(q24.21;q12)

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.