ClinVar Miner

List of variants in gene MED13L reported as pathogenic for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
GRCh38/hg38 12q24.21(chr12:115996285-116022906)x3
NC_000012.12:g.116022564_116022565delinsAT rs1555250044
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) rs1879651226
NM_015335.5(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.5(MED13L):c.1250dup (p.Thr418fs)
NM_015335.5(MED13L):c.1496dup (p.Met499fs) rs1879220710
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.1744del (p.Leu582fs)
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.5(MED13L):c.2059C>T (p.Gln687Ter) rs1555247699
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.5(MED13L):c.215G>A (p.Trp72Ter)
NM_015335.5(MED13L):c.2318del (p.Ser773fs) rs1879044510
NM_015335.5(MED13L):c.2320del (p.Ile774fs) rs2137373056
NM_015335.5(MED13L):c.2399dup (p.Thr801fs) rs1135401766
NM_015335.5(MED13L):c.2504del (p.Pro835fs) rs1555246952
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2636del (p.Pro879fs)
NM_015335.5(MED13L):c.278del (p.Asn93fs)
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.319dup (p.Glu107fs) rs2137899583
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter) rs2137307819
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter) rs2137899543
NM_015335.5(MED13L):c.3309del (p.Glu1105fs) rs2137307119
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)
NM_015335.5(MED13L):c.3459del (p.Asn1154fs)
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.5(MED13L):c.395+1G>A rs1874072309
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter) rs2137290161
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4083del (p.Gln1361fs) rs1877748039
NM_015335.5(MED13L):c.4087del (p.His1363fs)
NM_015335.5(MED13L):c.4108_4114+3del
NM_015335.5(MED13L):c.4120del (p.Glu1374fs) rs1877698147
NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter)
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter) rs2137287115
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs) rs1877686983
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter) rs1877535811
NM_015335.5(MED13L):c.4452del (p.Phe1484fs) rs1555243582
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)
NM_015335.5(MED13L):c.4622del (p.Thr1541fs) rs1877476585
NM_015335.5(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.5(MED13L):c.480-1G>T rs869025288
NM_015335.5(MED13L):c.4956-2A>C rs1057518705
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs) rs1877403231
NM_015335.5(MED13L):c.5000_5001del (p.Ser1667fs)
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) rs1555243059
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter) rs1135401765
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs) rs2137264830
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.5364+1dup rs1877270718
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn) rs2137446876
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.5(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter) rs139063441
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter) rs1876853109
NM_015335.5(MED13L):c.5751_5752insTACTACA (p.Glu1918fs)
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.57del (p.Asn20fs)
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter) rs2137223723
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)
NM_015335.5(MED13L):c.6039del (p.Asn2014fs)
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015335.5(MED13L):c.6195dup (p.Gly2066fs) rs2137216530
NM_015335.5(MED13L):c.6226-1G>C rs1876150289
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)
NM_015335.5(MED13L):c.6260del (p.Pro2087fs) rs1565982697
NM_015335.5(MED13L):c.6277C>T (p.Gln2093Ter)
NM_015335.5(MED13L):c.6331del (p.Gln2111fs)
NM_015335.5(MED13L):c.6335G>A (p.Trp2112Ter)
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015335.5(MED13L):c.760_1175+967del
NM_015335.5(MED13L):c.864_865del (p.Gln289fs)

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