ClinVar Miner

List of variants in gene MED13L reported as uncertain significance

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Gene type:
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Total variants: 101
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HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116318205-116408746)x3
GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3
GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3
GRCh37/hg19 12q24.21(chr12:116414991-116639877)x3
GRCh37/hg19 12q24.21(chr12:116417092-116698142)x3
NC_000012.11:g.(?_116534454)_(116534577_?)del
NM_015335.4(MED13L):c.1029G>C (p.Gln343His) rs749587320
NM_015335.4(MED13L):c.1260A>C (p.Arg420Ser) rs768900677
NM_015335.4(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.4(MED13L):c.1904G>A (p.Ser635Asn) rs144457722
NM_015335.4(MED13L):c.1928A>G (p.Asp643Gly) rs1344076513
NM_015335.4(MED13L):c.1943C>G (p.Pro648Arg) rs1322326599
NM_015335.4(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.4(MED13L):c.2354A>T (p.Gln785Leu) rs1555247342
NM_015335.4(MED13L):c.2488C>T (p.Arg830Cys) rs375719087
NM_015335.4(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.4(MED13L):c.3479G>A (p.Cys1160Tyr) rs1565997289
NM_015335.4(MED13L):c.3498G>T (p.Ala1166=) rs200960898
NM_015335.4(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892
NM_015335.4(MED13L):c.3518G>T (p.Gly1173Val) rs773730403
NM_015335.4(MED13L):c.3606G>A (p.Met1202Ile) rs752751372
NM_015335.4(MED13L):c.3788G>A (p.Arg1263Gln) rs374506267
NM_015335.4(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663
NM_015335.4(MED13L):c.3934+3A>G rs747852225
NM_015335.4(MED13L):c.401T>C (p.Leu134Pro) rs1565875400
NM_015335.4(MED13L):c.4115-7A>T rs1054976642
NM_015335.4(MED13L):c.4224G>T (p.Leu1408Phe) rs1565994535
NM_015335.4(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.4(MED13L):c.451G>A (p.Glu151Lys) rs773315749
NM_015335.4(MED13L):c.4880A>G (p.Gln1627Arg) rs752932375
NM_015335.4(MED13L):c.5162C>T (p.Ser1721Phe) rs755513948
NM_015335.4(MED13L):c.5615G>A (p.Arg1872His) rs28940310
NM_015335.4(MED13L):c.5631G>T (p.Gln1877His) rs1555241858
NM_015335.4(MED13L):c.5732-3C>T rs370245982
NM_015335.4(MED13L):c.5827C>A (p.Pro1943Thr) rs1555241424
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160
NM_015335.4(MED13L):c.6155A>C (p.Asn2052Thr) rs766487372
NM_015335.4(MED13L):c.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.4(MED13L):c.650A>C (p.Asn217Thr) rs772021396
NM_015335.4(MED13L):c.6545A>G (p.Asn2182Ser) rs762926166
NM_015335.4(MED13L):c.656C>T (p.Thr219Met) rs191743300
NM_015335.4(MED13L):c.6570dup (p.Cys2191fs) rs1592888491
NM_015335.4(MED13L):c.722A>G (p.Tyr241Cys) rs564830776
NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.1009+5G>C
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg)
NM_015335.5(MED13L):c.1175+20T>C
NM_015335.5(MED13L):c.1185A>C (p.Gln395His)
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu)
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met)
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly)
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe)
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe)
NM_015335.5(MED13L):c.2061G>T (p.Gln687His)
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg)
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu)
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu)
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys)
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp)
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val)
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu)
NM_015335.5(MED13L):c.2791-3C>T
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile)
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu)
NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu)
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr)
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser)
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val)
NM_015335.5(MED13L):c.3689A>G (p.Gln1230Arg)
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val)
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala)
NM_015335.5(MED13L):c.4114+2T>A
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val)
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys)
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr)
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln)
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys)
NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr)
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala)
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro)
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile)
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met)
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His)
NM_015335.5(MED13L):c.5321T>A (p.Phe1774Tyr) rs1592911270
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val)
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser)
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del)
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile)
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr)
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe)
NM_015335.5(MED13L):c.5921G>A (p.Arg1974Gln)
NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys)
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe)
NM_015335.5(MED13L):c.603G>T (p.Gln201His)
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe)
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)
NM_015335.5(MED13L):c.805G>A (p.Val269Ile)
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser)
NM_015335.5(MED13L):c.993A>G (p.Pro331=)

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