ClinVar Miner

List of variants in gene MED13L reported as likely pathogenic

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Total variants: 53
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HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116321989-116681294)x3
GRCh37/hg19 12q24.21(chr12:116374312-116535323)x3
GRCh37/hg19 12q24.21(chr12:116417092-116639877)x3
GRCh37/hg19 12q24.21(chr12:116462247-116603459)x1
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
NM_015335.4(MED13L):c.1176-1G>A rs1566010195
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.2333C>T (p.Ala778Val) rs1555247422
NM_015335.4(MED13L):c.2345-3C>G rs1592939069
NM_015335.4(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.4(MED13L):c.2591T>A (p.Met864Lys) rs1057520056
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.2605C>A (p.Pro869Thr) rs1057524103
NM_015335.4(MED13L):c.2633C>T (p.Ser878Phe) rs1064794939
NM_015335.4(MED13L):c.2636C>T (p.Pro879Leu) rs1064795068
NM_015335.4(MED13L):c.2930C>T (p.Ala977Val) rs1131691671
NM_015335.4(MED13L):c.3935-1G>A rs1565995146
NM_015335.4(MED13L):c.3935-2A>G rs1555244216
NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.4(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.4(MED13L):c.43G>T (p.Glu15Ter) rs1057520775
NM_015335.4(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.4(MED13L):c.5033T>A (p.Val1678Asp) rs1555243099
NM_015335.4(MED13L):c.5175G>T (p.Gln1725His) rs1555243051
NM_015335.4(MED13L):c.5588+1G>A rs1135401810
NM_015335.4(MED13L):c.5785A>G (p.Lys1929Glu) rs1064795586
NM_015335.4(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.4(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.4(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs)
NM_015335.5(MED13L):c.1A>T (p.Met1Leu)
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser)
NM_015335.5(MED13L):c.2996+1G>A
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs) rs1555245254
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)
NM_015335.5(MED13L):c.3409A>C (p.Asn1137His)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.392_395del (p.Glu131fs)
NM_015335.5(MED13L):c.395+1G>A
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4338+5G>A
NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs)
NM_015335.5(MED13L):c.6461dup (p.His2155fs) rs1592890905
NM_015335.5(MED13L):c.6583C>T (p.His2195Tyr)
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)
NM_015335.5(MED13L):c.987del (p.Ser330fs)
NM_015335.5(MED13L):c.995A>G (p.Glu332Gly)

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