"MED13L-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059583	NM_015335.5(MED13L):c.5950C>T (p.Gln1984Ter)	MED13L (Q1984*)	Single nucleotide variant (nonsense)	MED13L-related disorder	GLikely pathogenic
Select item 798160	NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu)	MED13L (I1937L)	Single nucleotide variant (missense variant)	MED13L-related disorder +2 more	GBenign/Likely benign
Select item 2629221	NM_015335.5(MED13L):c.5665A>G (p.Met1889Val)	MED13L (M1889V)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 2634256	NM_015335.5(MED13L):c.5614C>T (p.Arg1872Cys)	MED13L (R1872C)	Single nucleotide variant (missense variant)	MED13L-related disorder	GLikely pathogenic
Select item 1094975	NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile)	MED13L (V1855I)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +2 more	GLikely benign
Select item 2712012	NM_015335.5(MED13L):c.5540A>G (p.His1847Arg)	MED13L (H1847R)	Single nucleotide variant (missense variant)	MED13L-related disorder +1 more	GLikely benign
Select item 3061361	NM_015335.5(MED13L):c.5393C>T (p.Pro1798Leu)	MED13L (P1798L)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 3031919	NM_015335.5(MED13L):c.5344A>G (p.Met1782Val)	MED13L (M1782V)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 3032022	NM_015335.5(MED13L):c.5219A>T (p.Gln1740Leu)	MED13L (Q1740L)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 2632183	NM_015335.5(MED13L):c.5215G>A (p.Glu1739Lys)	MED13L (E1739K)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 2629362	NM_015335.5(MED13L):c.5176A>G (p.Ile1726Val)	MED13L (I1726V)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 2631773	NM_015335.5(MED13L):c.4899dup (p.Gly1634fs)	MED13L (G1634fs)	Duplication (frameshift variant)	MED13L-related disorder	GLikely pathogenic
Select item 695670	NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser)	MED13L (T1618S)	Single nucleotide variant (missense variant)	MED13L-related disorder +3 more	GBenign/Likely benign
Select item 699415	NM_015335.5(MED13L):c.4767G>A (p.Ser1589=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +1 more	GBenign/Likely benign
Select item 241043	NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr)	MED13L (S1582T)	Single nucleotide variant (missense variant)	MED13L-related disorder +2 more	GBenign/Likely benign
Select item 3033691	NM_015335.5(MED13L):c.4670dup (p.Ala1558fs)	MED13L (A1558fs)	Duplication (frameshift variant)	MED13L-related disorder	GLikely pathogenic
Select item 2082099	NM_015335.5(MED13L):c.4623G>A (p.Thr1541=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +1 more	GBenign/Likely benign
Select item 1232375	NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val)	MED13L (A1536V)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +2 more	GBenign/Likely benign
Select item 533126	NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr)	MED13L (P1487T)	Single nucleotide variant (missense variant)	MED13L-related disorder +2 more	GBenign/Likely benign
Select item 2634411	NM_015335.5(MED13L):c.4379T>C (p.Leu1460Pro)	MED13L (L1460P)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 464492	NM_015335.5(MED13L):c.4339-10A>G	MED13L	Single nucleotide variant (intron variant)	MED13L-related disorder +2 more	GLikely benign
Select item 1116099	NM_015335.5(MED13L):c.4269G>T (p.Val1423=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +1 more	GLikely benign
Select item 3032614	NM_015335.5(MED13L):c.4150A>G (p.Thr1384Ala)	MED13L (T1384A)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 2200386	NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn)	MED13L (S1310N)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GConflicting classifications of pathogenicity
Select item 464491	NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)	MED13L (P1289L)	Single nucleotide variant (missense variant)	MED13L-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 695435	NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile)	MED13L (T1253I)	Single nucleotide variant (missense variant)	MED13L-related disorder +2 more	GBenign/Likely benign
Select item 701376	NM_015335.5(MED13L):c.3752G>A (p.Arg1251His)	MED13L (R1251H)	Single nucleotide variant (missense variant)	MED13L-related disorder +2 more	GBenign/Likely benign
Select item 699166	NM_015335.5(MED13L):c.3714T>G (p.Ala1238=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +1 more	GLikely benign
Select item 2628780	NM_015335.5(MED13L):c.3556A>G (p.Ile1186Val)	MED13L (I1186V)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 464490	NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser)	MED13L (G1173S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 241042	NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg)	MED13L (K1171R)	Single nucleotide variant (missense variant)	MED13L-related disorder +4 more	GBenign/Likely benign
Select item 1212784	NM_015335.5(MED13L):c.3435C>T (p.Val1145=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped +2 more	GBenign/Likely benign
Select item 2636179	NM_015335.5(MED13L):c.3425G>A (p.Gly1142Glu)	MED13L (G1142E)	Single nucleotide variant (missense variant)	MED13L-related disorder	GLikely pathogenic
Select item 3061405	NM_015335.5(MED13L):c.3376_3381del (p.Arg1126_Asn1127del)	MED13L	Deletion (inframe deletion)	MED13L-related disorder	GUncertain significance
Select item 1277249	NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped +2 more	GBenign/Likely benign
Select item 3061080	NM_015335.5(MED13L):c.3319del (p.His1107fs)	MED13L (H1107fs)	Deletion (frameshift variant)	MED13L-related disorder	GLikely pathogenic
Select item 936409	NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)	MED13L (V1072I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1966133	NM_015335.5(MED13L):c.3207A>G (p.Gln1069=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped +2 more	GLikely benign
Select item 2631419	NM_015335.5(MED13L):c.2996A>T (p.Asn999Ile)	MED13L (N999I)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 2716935	NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala)	MED13L (P989A)	Single nucleotide variant (missense variant)	MED13L-related disorder +1 more	GUncertain significance
Select item 1010663	NM_015335.5(MED13L):c.2812G>A (p.Val938Ile)	MED13L (V938I)	Single nucleotide variant (missense variant)	MED13L-related disorder +1 more	GBenign/Likely benign
Select item 701187	NM_015335.5(MED13L):c.2778C>T (p.Pro926=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +2 more	GBenign/Likely benign
Select item 2636211	NM_015335.5(MED13L):c.2635C>A (p.Pro879Thr)	MED13L (P879T)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 2629558	NM_015335.5(MED13L):c.2318C>T (p.Ser773Phe)	MED13L (S773F)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 1110124	NM_015335.5(MED13L):c.2292G>A (p.Pro764=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +2 more	GLikely benign
Select item 3049062	NM_015335.5(MED13L):c.2013-7_2013-6del	MED13L	Deletion (intron variant)	MED13L-related disorder	GLikely benign
Select item 3041496	NM_015335.5(MED13L):c.2013-7C>G	MED13L	Single nucleotide variant (intron variant)	MED13L-related disorder	GLikely benign
Select item 2971110	NM_015335.5(MED13L):c.2013-9dup	MED13L	Duplication (intron variant)	MED13L-related disorder +1 more	GLikely benign
Select item 2057875	NM_015335.5(MED13L):c.2013-10_2013-9insTTG	MED13L	Insertion (intron variant)	Transposition of the great arteries, dextro-looped +1 more	GLikely benign
Select item 3034174	NM_015335.5(MED13L):c.2013-14_2013-10del	MED13L	Deletion (intron variant)	MED13L-related disorder	GLikely benign
Select item 915314	NM_015335.5(MED13L):c.1910G>A (p.Arg637His)	MED13L (R637H)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +4 more	GBenign/Likely benign
Select item 431731	NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn)	MED13L (S635N)	Single nucleotide variant (missense variant)	MED13L-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 696601	NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu)	MED13L (P626L)	Single nucleotide variant (missense variant)	MED13L-related disorder +3 more	GBenign/Likely benign
Select item 415970	NM_015335.5(MED13L):c.1863T>C (p.Ile621=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +2 more	GBenign
Select item 2631028	NM_015335.5(MED13L):c.1823T>C (p.Leu608Pro)	MED13L (L608P)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 3036517	NM_015335.5(MED13L):c.1709G>A (p.Ser570Asn)	MED13L (S570N)	Single nucleotide variant (missense variant)	MED13L-related disorder	GLikely benign
Select item 2633465	NM_015335.5(MED13L):c.1704dup (p.Glu569fs)	MED13L (E569fs)	Duplication (frameshift variant)	MED13L-related disorder	GLikely pathogenic
Select item 1119633	NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly)	MED13L (S522G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 533131	NM_015335.5(MED13L):c.1308C>T (p.Val436=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +1 more	GLikely benign
Select item 2151601	NM_015335.5(MED13L):c.1300_1302del (p.Cys434del)	MED13L (C434del)	Deletion (inframe_deletion)	MED13L-related disorder +1 more	GUncertain significance
Select item 2636636	NM_015335.5(MED13L):c.1280G>A (p.Arg427Lys)	MED13L (R427K)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GUncertain significance
Select item 696823	NM_015335.5(MED13L):c.1198A>G (p.Thr400Ala)	MED13L (T400A)	Single nucleotide variant (missense variant)	MED13L-related disorder +1 more	GLikely benign
Select item 695675	NM_015335.5(MED13L):c.1095G>A (p.Ser365=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +2 more	GBenign
Select item 3031568	NM_015335.5(MED13L):c.1092A>G (p.Arg364=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder	GLikely benign
Select item 696125	NM_015335.5(MED13L):c.1008A>C (p.Leu336=)	MED13L	Single nucleotide variant (synonymous variant)	MED13L-related disorder +2 more	GBenign/Likely benign
Select item 972387	NM_015335.5(MED13L):c.969G>A (p.Met323Ile)	MED13L (M323I)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +2 more	GLikely benign
Select item 696310	NM_015335.5(MED13L):c.878C>T (p.Pro293Leu)	MED13L (P293L)	Single nucleotide variant (missense variant)	MED13L-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 431825	NM_015335.5(MED13L):c.656C>T (p.Thr219Met)	MED13L (T219M)	Single nucleotide variant (missense variant)	MED13L-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1165216	NM_015335.5(MED13L):c.73-10_73-9dup	MED13L	Duplication (intron variant)	MED13L-related disorder +2 more	GBenign/Likely benign

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Items: 69