List of variants in gene MED13L reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)	rs2499931468
NM_015335.5(MED13L):c.1186del (p.Met396fs)	rs1064794013
NM_015335.5(MED13L):c.1280+1G>A	rs2499924697
NM_015335.5(MED13L):c.1318C>T (p.Arg440Ter)	rs1205283728
NM_015335.5(MED13L):c.1336C>T (p.Gln446Ter)	rs886041503
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter)	rs2137385115
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)	rs869025286
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs)	rs1592941857
NM_015335.5(MED13L):c.1992dup (p.Glu665fs)	rs1057518424
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.2524C>T (p.Arg842Ter)	rs1064793483
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)	rs1555246154
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.2911_2914del (p.Leu971fs)	rs1064796611
NM_015335.5(MED13L):c.2930C>T (p.Ala977Val)	rs1131691671
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter)	rs1555245108
NM_015335.5(MED13L):c.34del (p.Ala12fs)	rs1593238375
NM_015335.5(MED13L):c.3765del (p.Cys1256fs)	rs147976828
NM_015335.5(MED13L):c.401dup (p.Met135fs)	rs1593039493
NM_015335.5(MED13L):c.4051C>T (p.Gln1351Ter)	rs1057524341
NM_015335.5(MED13L):c.4060C>T (p.Gln1354Ter)	rs1565995054
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)	rs1592919048
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg)	rs1555243607
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs)	rs1131691764
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs)	rs1592915896
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)	rs1872666696
NM_015335.5(MED13L):c.4577del (p.Pro1526fs)	rs1057518262
NM_015335.5(MED13L):c.4609C>T (p.Gln1537Ter)	rs1555243400
NM_015335.5(MED13L):c.4716del (p.Pro1573fs)	rs1064796113
NM_015335.5(MED13L):c.5000_5001del (p.Ser1667fs)
NM_015335.5(MED13L):c.5083dup (p.Ser1695fs)	rs1555243086
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)	rs886041448
NM_015335.5(MED13L):c.5471del (p.Asn1824fs)	rs2499798910
NM_015335.5(MED13L):c.553C>T (p.Gln185Ter)	rs2137446910
NM_015335.5(MED13L):c.5589-1G>A	rs1064796543
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)	rs1876853109
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)	rs1876629983
NM_015335.5(MED13L):c.5866C>T (p.Gln1956Ter)	rs1565985681
NM_015335.5(MED13L):c.6073dup (p.Met2025fs)	rs1131691386
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)	rs1876147349
NM_015335.5(MED13L):c.6284dup (p.Ala2096fs)	rs886041624
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter)	rs1555239936
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)	rs869312707
NM_015335.5(MED13L):c.878del (p.Pro293fs)	rs1555249561

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