MED13L (Q71F56) variants and mutations
MED13L (also known as Q71F56) is a human protein-coding gene encoding a mediator of RNA polymerase II transcription subunit 13-like protein. A subunit of the Mediator complex, which relays signals from transcription factors to RNA polymerase II. Variants can cause a neurodevelopmental syndrome with speech and developmental delays. This analysis covers 2,226 MED13L variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes cardiac anomalies - developmental delay - facial dysmorphism syndrome, Intellectual disability, and dextro-looped transposition of the great arteries. Example MED13L variants include M1L, M1V, and T2S.
Variant analysis overview
- Gene: MED13L
- Protein: Q71F56
- UniProt accession: Q71F56
- Organism: Homo sapiens
- Variants analyzed: 2226
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 2,189 unspecified-consequence records; 1 stop retained variant; 130 synonymous variants; 92 missense variants; 2 splice-region variants; 3 frameshift variants; 2 in-frame deletions; 2 stop-gained variants
- Prediction scores: 2,080 variants have prediction scores (93% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: cardiac anomalies - developmental delay - facial dysmorphism syndrome, Intellectual disability, dextro-looped transposition of the great arteries, hereditary disease, cutaneous melanoma, neurodevelopmental disorder, smoking initiation, Global developmental delay, syndromic intellectual disability, neurodegenerative disease, Rare genetic intellectual disability, atrial fibrillation.
Protein structure and variant hotspots
- Protein features: 6 post-translational modification sites.
- PTM context: 5 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to MED13L
Notable MED13L variants
Examples include M1L, M1V, T2S, A3T, A3V, A4T, A5G, A5P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs1131691818, ClinGen CA386928014, ClinVar RCV001526632, ESM-1b 1.00, AlphaMissense 0.45, Likely pathogenic, Global developmental delay
- M1V (p.Met1Val), rs1131691818, ClinGen CA386928015, ClinVar RCV000493631, ClinVar RCV001249234, ESM-1b 1.00, AlphaMissense 0.34, Pathogenic, Cardiac anomalies - developmental delay - facial dysmorphism syndrome; not provi
- T2S (p.Thr2Ser), Ensembl rs1873933621, ESM-1b 0.00, AlphaMissense 0.59
- A3T (p.Ala3Thr), rs2500191685, ClinGen CA386928001, ClinVar RCV003498928, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Dextro-looped transposition of the great arteries
- A3V (p.Ala3Val), gnomAD rs1414869776, REVEL 0.19, ESM-1b 0.00
- A4T (p.Ala4Thr), rs1424018799, ClinGen CA386927995, ClinVar RCV004421780, TOPMed rs1424018799, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A5G (p.Ala5Gly), Ensembl rs2138617019, ESM-1b 0.00, AlphaMissense 0.38, Uncertain significance, not provided
- A5P (p.Ala5Pro), TOPMed rs1028349166, gnomAD rs1028349166, REVEL 0.23, ESM-1b 0.00
- V8E (p.Val8Glu), gnomAD rs1873932740, REVEL 0.29, ESM-1b 0.00
- V8L (p.Val8Leu), gnomAD rs1381012946, REVEL 0.23, ESM-1b 0.00
- A9V (p.Ala9Val), rs2500191509, ClinGen CA386927956, ClinVar RCV003225494, REVEL 0.23, ESM-1b 0.00, Uncertain significance, not provided
- G11A (p.Gly11Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S13I (p.Ser13Ile), Ensembl rs2138616939, REVEL 0.39, ESM-1b 0.00
- S13R (p.Ser13Arg), TOPMed rs1873931395, REVEL 0.53, ESM-1b 0.00
- L14V (p.Leu14Val), ESP rs148454293, ExAC rs148454293, TOPMed rs148454293, gnomAD rs148454293, REVEL 0.52, ESM-1b 0.00, Benign
- E15* (p.Glu15Ter), rs1057520775, ClinGen CA16606071, ClinVar RCV000423089, Ensembl rs1057520775, CADD 36.00, Likely pathogenic
- D16G (p.Asp16Gly), rs2500191290, ClinGen CA386927912, ClinVar RCV003337954, ESM-1b 0.00, AlphaMissense 0.99, Uncertain significance, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- D16Y (p.Asp16Tyr), Ensembl rs867786649, REVEL 0.59, ESM-1b 0.00
- C17T (p.Cys17Thr), NCI-TCGA Cosmic COSV9992, Variant assessed as somatic; moderate impact.
- H18L (p.His18Leu), rs2500191265, ClinGen CA386927897, ClinVar RCV002511198, ClinVar RCV002574743, REVEL 0.52, ESM-1b 0.00, Uncertain significance, not provided; Dextro-looped transposition of the great arteries
- S19C (p.Ser19Cys), gnomAD rs1358035684, REVEL 0.45, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- N20D (p.Asn20Asp), TOPMed rs1873927885, gnomAD rs1873927885, REVEL 0.50, ESM-1b 0.00
- N20S (p.Asn20Ser), rs1034459470, ClinGen CA244936870, ClinVar RCV003499786, ClinVar RCV004636774, REVEL 0.51, ESM-1b 0.00, Conflicting interpretations, Dextro-looped transposition of the great arteries; Inborn genetic diseases
- L21F (p.Leu21Phe), Ensembl rs2138616852, REVEL 0.17, ESM-1b 0.00
- E26Q (p.Glu26Gln), TOPMed rs1176618114, ESM-1b 0.00, AlphaMissense 0.72
- L27F (p.Leu27Phe), rs1379524685, ClinGen CA386927714, ClinVar RCV003228370, ClinVar RCV005102434, REVEL 0.69, ESM-1b 0.00, Conflicting interpretations, Dextro-looped transposition of the great arteries; not provided; Inborn genetic
- T28M (p.Thr28Met), rs563883392, ClinGen CA6811824, NCI-TCGA Cosmic COSV5611, ClinVar RCV002629867, REVEL 0.67, ESM-1b 0.00, Likely benign, Dextro-looped transposition of the great arteries
- I30V (p.Ile30Val), rs2138459773, ClinGen CA386927698, ClinVar RCV001773052, Ensembl rs2138459773, REVEL 0.70, ESM-1b 0.00, Uncertain significance, not provided
- K31R (p.Lys31Arg), rs372265285, ClinGen CA244930226, ClinVar RCV002917034, ClinVar RCV006473373, REVEL 0.67, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Dextro-looped transposition of the great arteries
- R33C (p.Arg33Cys), gnomAD rs1164859305, REVEL 0.88, ESM-1b 0.00
- R33H (p.Arg33His), gnomAD rs1425933908, REVEL 0.71, ESM-1b 0.00
- R34T (p.Arg34Thr), TOPMed rs1162486120, gnomAD rs1162486120, REVEL 0.57, ESM-1b 0.00
- N36D (p.Asn36Asp), rs759751651, ClinGen CA6811821, ClinVar RCV003856246, ExAC rs759751651, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Dextro-looped transposition of the great arteries
- N36S (p.Asn36Ser), rs370115918, ClinGen CA6811820, ClinVar RCV002681242, ClinVar RCV005433866, REVEL 0.17, ESM-1b 0.00, Benign/Likely benign, not provided; not specified; Dextro-looped transposition of the great arteries
- G39R (p.Gly39Arg), ESP rs374767676, ExAC rs374767676, TOPMed rs374767676, gnomAD rs374767676, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- H40R (p.His40Arg), rs2500017215, ClinGen CA386927626, ClinVar RCV003024057, ESM-1b 0.00, AlphaMissense 0.07, Benign, Dextro-looped transposition of the great arteries
- D42H (p.Asp42His), gnomAD rs1247142719, REVEL 0.30, ESM-1b 0.00, Uncertain significance
- D42Y (p.Asp42Tyr), rs1247142719, ClinGen CA386927615, ClinVar RCV001950415, gnomAD rs1247142719, REVEL 0.39, ESM-1b 0.00, Uncertain significance, Dextro-looped transposition of the great arteries
- C43F (p.Cys43Phe), TOPMed rs1870215335, ESM-1b 0.00, AlphaMissense 0.11
- C43R (p.Cys43Arg), ExAC rs768315802, gnomAD rs768315802, REVEL 0.35, ESM-1b 0.00
- G44E (p.Gly44Glu), TOPMed rs777210650, gnomAD rs777210650, REVEL 0.45, ESM-1b 0.00
- G44V (p.Gly44Val), TOPMed rs777210650, gnomAD rs777210650, ESM-1b 0.00, AlphaMissense 0.35
- P45R (p.Pro45Arg), rs2500017153, ClinGen CA386927593, ClinVar RCV003499101, REVEL 0.74, ESM-1b 0.00, Uncertain significance, Dextro-looped transposition of the great arteries
- A49T (p.Ala49Thr), rs2500017127, ClinGen CA386927571, ClinVar RCV003328892, ESM-1b 0.00, AlphaMissense 0.36, Uncertain significance, not provided
- A49V (p.Ala49Val), gnomAD rs1305288927, REVEL 0.33, ESM-1b 0.00
- P50L (p.Pro50Leu), gnomAD rs1391248881, REVEL 0.31, ESM-1b 0.00
- D53V (p.Asp53Val), gnomAD rs1403666758, REVEL 0.57, ESM-1b 0.00
- D54N (p.Asp54Asn), gnomAD rs1213926938, REVEL 0.76, ESM-1b 0.00
- I56V (p.Ile56Val), rs777432809, ClinGen CA6811808, ClinVar RCV003086558, ExAC rs777432809, REVEL 0.18, ESM-1b 0.00, Benign, Dextro-looped transposition of the great arteries
- L58* (p.Leu58Ter), rs1870211191, ClinGen CA386927510, ClinVar RCV001257598, Ensembl rs1870211191, Pathogenic
- L58I (p.Leu58Ile), Ensembl rs1870211382, ESM-1b 0.00, AlphaMissense 0.11
- I61V (p.Ile61Val), Ensembl rs1870210799, ESM-1b 0.00, AlphaMissense 0.12
- R62G (p.Arg62Gly), Ensembl rs1308998041, REVEL 0.90, ESM-1b 0.00
- R62H (p.Arg62His), ExAC rs756298038, gnomAD rs756298038, REVEL 0.81, ESM-1b 0.00
- L64V (p.Leu64Val), rs2500017004, ClinGen CA386927468, ClinVar RCV003995159, ClinVar RCV006631062, REVEL 0.42, ESM-1b 0.00, Uncertain significance, not specified; Dextro-looped transposition of the great arteries
- A66V (p.Ala66Val), gnomAD rs1418227712, REVEL 0.66, ESM-1b 0.00
- N67D (p.Asn67Asp), rs2500016983, ClinGen CA386927449, ClinVar RCV003322077, ESM-1b 0.00, AlphaMissense 0.28, Uncertain significance, not provided
- N67S (p.Asn67Ser), Ensembl rs1870208863, ESM-1b 0.00, AlphaMissense 0.23
- V71I (p.Val71Ile), rs755079872, ClinGen CA6811804, ClinVar RCV003497791, ExAC rs755079872, REVEL 0.44, ESM-1b 0.00, Benign, Dextro-looped transposition of the great arteries
- R73C (p.Arg73Cys), rs2500016944, ClinGen CA386927409, ClinVar RCV003333436, REVEL 0.92, ESM-1b 0.00, Uncertain significance, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- R74P (p.Arg74Pro), gnomAD rs1217509797, REVEL 0.96, ESM-1b 0.00
- V76A (p.Val76Ala), rs766945145, ClinGen CA6811802, ClinVar RCV003493077, ExAC rs766945145, REVEL 0.37, ESM-1b 0.00, Uncertain significance, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- K77R (p.Lys77Arg), rs142742835, ClinGen CA6811801, ClinVar RCV002908507, ESP rs142742835, REVEL 0.30, ESM-1b 0.00, Likely benign, not provided; Dextro-looped transposition of the great arteries
- D79E (p.Asp79Glu), ExAC rs765533860, gnomAD rs765533860, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- D79H (p.Asp79His), ExAC rs750733518, TOPMed rs750733518, gnomAD rs750733518, REVEL 0.23, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- D79V (p.Asp79Val), TOPMed rs1231054017, gnomAD rs1231054017, REVEL 0.43, ESM-1b 0.00
- C80Y (p.Cys80Tyr), ExAC rs762303455, gnomAD rs762303455, REVEL 0.30, ESM-1b 0.00
- K81R (p.Lys81Arg), TOPMed rs1870203505, ESM-1b 0.00, AlphaMissense 0.13
- W84R (p.Trp84Arg), Ensembl rs1870202392, ESM-1b 0.00, AlphaMissense 1.00
- W88* (p.Trp88Ter), rs1870202051, ClinGen CA386927299, ClinVar RCV001047664, ClinVar RCV001171634, Pathogenic
- G89A (p.Gly89Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D90G (p.Asp90Gly), rs2138459001, ClinGen CA386927283, ClinVar RCV001763481, Ensembl rs2138459001, ESM-1b 0.00, AlphaMissense 0.43, Uncertain significance, not provided
- N93D (p.Asn93Asp), rs771759533, ClinGen CA6811796, ClinVar RCV002666579, ExAC rs771759533, REVEL 0.26, ESM-1b 0.00, Benign, Dextro-looped transposition of the great arteries
- N93S (p.Asn93Ser), rs758996097, ClinGen CA6811795, ClinVar RCV003843983, ClinVar RCV006373088, REVEL 0.32, ESM-1b 0.00, Likely benign, Inborn genetic diseases; Dextro-looped transposition of the great arteries
- G96D (p.Gly96Asp), TOPMed rs2042240265, ESM-1b 0.00, AlphaMissense 0.05
- G96T (p.Gly96Thr), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.15, Variant assessed as somatic; moderate impact.
- V97I (p.Val97Ile), ExAC rs773879689, gnomAD rs773879689, REVEL 0.28, ESM-1b 0.00
- H99R (p.His99Arg), ExAC rs770784992, gnomAD rs770784992, REVEL 0.72, ESM-1b 0.00
- H100R (p.His100Arg), ExAC rs777820829, gnomAD rs777820829, REVEL 0.28, ESM-1b 0.00
- Q103H (p.Gln103His), TOPMed rs1870198733, ESM-1b 0.00, AlphaMissense 0.08
- V104A (p.Val104Ala), gnomAD rs1490084394, REVEL 0.24, ESM-1b 0.00
- V105L (p.Val105Leu), 1000Genomes rs548302905, ExAC rs548302905, TOPMed rs548302905, gnomAD rs548302905, REVEL 0.16, ESM-1b 0.00
- V105M (p.Val105Met), 1000Genomes rs548302905, ExAC rs548302905, TOPMed rs548302905, gnomAD rs548302905, REVEL 0.27, ESM-1b 0.00
- E107G (p.Glu107Gly), Ensembl rs1874077663, REVEL 0.41, ESM-1b 0.00
- G108* (p.Gly108Ter), Ensembl rs866818759
- W110* (p.Trp110Ter), rs2137899543, ClinGen CA386927135, ClinVar RCV002274459, Ensembl rs2137899543, CADD 37.00, Pathogenic
- E111Q (p.Glu111Gln), TOPMed rs1874076707, REVEL 0.51, ESM-1b 0.00
- G113V (p.Gly113Val), rs2500383513, ClinGen CA386927108, ClinVar RCV003756654, ESM-1b 1.00, AlphaMissense 0.90, Likely pathogenic, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- G113A (p.Gly113Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T120A (p.Thr120Ala), gnomAD rs1225135386, REVEL 0.63, ESM-1b 0.00
- T120M (p.Thr120Met), rs765903997, ClinGen CA6811706, NCI-TCGA Cosmic COSV9993, ClinVar RCV003603800, REVEL 0.72, ESM-1b 0.00, Conflicting interpretations, not provided; Dextro-looped transposition of the great arteries
- L121Q (p.Leu121Gln), ExAC rs749836997, gnomAD rs749836997, REVEL 0.91, ESM-1b 1.00
- A125V (p.Ala125Val), rs2500383363, ClinVar RCV004590941, REVEL 0.85, ESM-1b 1.00, Likely pathogenic, not provided
- I126F (p.Ile126Phe), gnomAD rs1281449393, REVEL 0.55, ESM-1b 0.59
- N128H (p.Asn128His), ExAC rs776706811, gnomAD rs776706811, REVEL 0.67, ESM-1b 0.00
- N128S (p.Asn128Ser), ExAC rs764174553, TOPMed rs764174553, gnomAD rs764174553, REVEL 0.65, ESM-1b 0.00
- C133F (p.Cys133Phe), Ensembl rs2137817100, ESM-1b 0.52, AlphaMissense 0.85
- C133S (p.Cys133Ser), ExAC rs760692732, gnomAD rs760692732, REVEL 0.73, ESM-1b 0.00
- L134P (p.Leu134Pro), rs1565875400, ClinGen CA386926948, ClinVar RCV000696733, Ensembl rs1565875400, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance, Dextro-looped transposition of the great arteries
- M135T (p.Met135Thr), rs752482619, ClinGen CA6811681, ClinVar RCV002273166, ExAC rs752482619, REVEL 0.62, ESM-1b 0.00, Uncertain significance, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- D136E (p.Asp136Glu), ExAC rs759312266, gnomAD rs759312266, REVEL 0.26, ESM-1b 0.00
- D136V (p.Asp136Val), ExAC rs767327697, gnomAD rs767327697, REVEL 0.57, ESM-1b 0.00
- K137E (p.Lys137Glu), ESP rs138977360, TOPMed rs138977360, gnomAD rs138977360, REVEL 0.44, ESM-1b 0.79, Uncertain significance, Dextro-looped transposition of the great arteries
- V140I (p.Val140Ile), 1000Genomes rs137898753, ESP rs137898753, ExAC rs137898753, TOPMed rs137898753, REVEL 0.34, ESM-1b 0.00, Likely benign, Dextro-looped transposition of the great arteries
- V140L (p.Val140Leu), 1000Genomes rs137898753, ESP rs137898753, ExAC rs137898753, TOPMed rs137898753, REVEL 0.61, ESM-1b 0.39
- R141S (p.Arg141Ser), Ensembl rs1872667441, ESM-1b 1.00, AlphaMissense 1.00
- I142M (p.Ile142Met), Ensembl rs1872667116, REVEL 0.57, ESM-1b 0.00
- F146Y (p.Phe146Tyr), rs2500281679, ClinGen CA386926862, ClinVar RCV003498038, ESM-1b 0.00, AlphaMissense 0.68, Uncertain significance, Dextro-looped transposition of the great arteries
- V147I (p.Val147Ile), Ensembl rs1872666832, REVEL 0.27, ESM-1b 0.00
- R148* (p.Arg148Ter), rs1872666696, ClinGen CA386926852, ClinVar RCV001257650, ClinVar RCV001732096, Pathogenic
- R148P (p.Arg148Pro), TOPMed rs1461395322, REVEL 0.47, ESM-1b 1.00, Uncertain significance, Dextro-looped transposition of the great arteries
- R148Q (p.Arg148Gln), rs1461395322, ClinGen CA386926851, ClinVar RCV001332059, TOPMed rs1461395322, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Y150C (p.Tyr150Cys), ExAC rs762975453, gnomAD rs762975453, REVEL 0.54, ESM-1b 0.00
- Y150F (p.Tyr150Phe), ExAC rs762975453, gnomAD rs762975453, REVEL 0.42, ESM-1b 0.26
- E151K (p.Glu151Lys), rs773315749, ClinGen CA6811675, NCI-TCGA Cosmic COSV5611, ClinVar RCV000695306, REVEL 0.28, ESM-1b 0.28, Benign/Likely benign, Dextro-looped transposition of the great arteries; Inborn genetic diseases
- K152N (p.Lys152Asn), rs1449279155, NCI-TCGA Cosmic COSV5611, TOPMed rs1449279155, gnomAD rs1449279155, REVEL 0.35, ESM-1b 0.70, Variant assessed as somatic; moderate impact.
- D153H (p.Asp153His), TOPMed rs1030833267, gnomAD rs1030833267, REVEL 0.41, ESM-1b 0.00
- D153V (p.Asp153Val), gnomAD rs1565875357, REVEL 0.53, ESM-1b 0.00
- E154A (p.Glu154Ala), ExAC rs770222758, TOPMed rs770222758, ESM-1b 0.00, AlphaMissense 0.29
- E154G (p.Glu154Gly), ExAC rs770222758, TOPMed rs770222758, ESM-1b 0.00, AlphaMissense 0.22
- N158D (p.Asn158Asp), rs2500281281, ClinGen CA386926787, ClinVar RCV003497687, ESM-1b 0.00, AlphaMissense 0.28, Uncertain significance, Dextro-looped transposition of the great arteries
- N158S (p.Asn158Ser), rs781607336, ClinGen CA6811672, ClinVar RCV001898115, ExAC rs781607336, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Dextro-looped transposition of the great arteries
- K159* (p.Lys159Ter), rs2500281214, ClinGen CA386926779, ClinVar RCV002646657, Pathogenic
- S160G (p.Ser160Gly), rs769061925, ClinGen CA6811671, ClinVar RCV003132635, ExAC rs769061925, REVEL 0.39, ESM-1b 0.00, Uncertain significance, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- E161K (p.Glu161Lys), rs2499953337, ClinGen CA386872619, ClinVar RCV003497598, ESM-1b 0.00, AlphaMissense 0.78, Uncertain significance, Dextro-looped transposition of the great arteries
- H162R (p.His162Arg), gnomAD rs1303284486, ESM-1b 0.00, AlphaMissense 0.75
- C165Y (p.Cys165Tyr), rs2499953263, ClinGen CA386872529, ClinVar RCV003064876, ESM-1b 0.00, AlphaMissense 0.97, Uncertain significance, Dextro-looped transposition of the great arteries
- A166T (p.Ala166Thr), TOPMed rs978898508, gnomAD rs978898508, REVEL 0.33, ESM-1b 0.00
- T168I (p.Thr168Ile), gnomAD rs1163644528, REVEL 0.67, ESM-1b 1.00
- F169C (p.Phe169Cys), TOPMed rs1880123656, ESM-1b 1.00, AlphaMissense 0.97
- F170L (p.Phe170Leu), ExAC rs777631364, gnomAD rs777631364, ESM-1b 0.58, AlphaMissense 0.99
- H172R (p.His172Arg), gnomAD rs1175373974, REVEL 0.96, ESM-1b 1.00
- V177I (p.Val177Ile), gnomAD rs1224904574, REVEL 0.43, ESM-1b 0.00
- C178T (p.Cys178Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T179A (p.Thr179Ala), NCI-TCGA Cosmic COSV9992, Variant assessed as somatic; moderate impact.
- S180G (p.Ser180Gly), ExAC rs747658099, gnomAD rs747658099, REVEL 0.83, ESM-1b 0.43
- S180N (p.Ser180Asn), TOPMed rs1216800188, gnomAD rs1216800188, REVEL 0.59, ESM-1b 0.00, Uncertain significance
- S180T (p.Ser180Thr), rs1216800188, ClinGen CA386872308, ClinVar RCV003887835, ESM-1b 0.00, AlphaMissense 0.21, Uncertain significance, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- A184S (p.Ala184Ser), TOPMed rs1880121640, ESM-1b 0.00, AlphaMissense 0.08
- A184V (p.Ala184Val), Ensembl rs868717689, ESM-1b 0.00, AlphaMissense 0.16
- Q185* (p.Gln185Ter), rs2137446910, ClinGen CA386872276, ClinVar RCV001658901, Ensembl rs2137446910, Pathogenic
- Q185H (p.Gln185His), ExAC rs754906505, TOPMed rs754906505, gnomAD rs754906505, ESM-1b 0.00, AlphaMissense 0.73
- H186P (p.His186Pro), Ensembl rs1592956711, ESM-1b 0.91, AlphaMissense 0.96
- Q187R (p.Gln187Arg), TOPMed rs1180926146, gnomAD rs1180926146, REVEL 0.55, ESM-1b 0.00
- I189L (p.Ile189Leu), rs1477471791, ClinGen CA386872248, ClinVar RCV002900793, ClinVar RCV005099797, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Dextro-looped transposition of the great arteries
- L191F (p.Leu191Phe), rs201690921, ClinGen CA6811642, ClinVar RCV001205743, ClinVar RCV001565398, REVEL 0.37, ESM-1b 0.00, Likely benign, Inborn genetic diseases; not provided; Dextro-looped transposition of the great
- N193S (p.Asn193Ser), rs531397958, ClinGen CA6811640, ClinVar RCV003603834, 1000Genomes rs531397958, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Dextro-looped transposition of the great arteries
- E194K (p.Glu194Lys), Ensembl rs1237731204, ESM-1b 0.00, AlphaMissense 0.09
- E195D (p.Glu195Asp), TOPMed rs1880119408, gnomAD rs1880119408, REVEL 0.18, ESM-1b 0.00
- E195K (p.Glu195Lys), rs374748495, ClinGen CA6811638, ClinVar RCV002801937, ESP rs374748495, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Dextro-looped transposition of the great arteries
- H196Y (p.His196Tyr), gnomAD rs1880119221, REVEL 0.83, ESM-1b 0.00
- H198L (p.His198Leu), ExAC rs764593997, gnomAD rs764593997, ESM-1b 0.00, AlphaMissense 0.08, Benign
- H198P (p.His198Pro), rs764593997, ClinGen CA386872179, ClinVar RCV001983739, ExAC rs764593997, ESM-1b 0.00, AlphaMissense 0.38, Benign, Dextro-looped transposition of the great arteries
- H198R (p.His198Arg), ExAC rs764593997, gnomAD rs764593997, REVEL 0.16, ESM-1b 0.00, Benign
- M199L (p.Met199Leu), gnomAD rs1346717465, REVEL 0.28, ESM-1b 0.00
- M199T (p.Met199Thr), TOPMed rs1448973263, gnomAD rs1448973263, REVEL 0.15, ESM-1b 0.00
- M199V (p.Met199Val), gnomAD rs1346717465, REVEL 0.20, ESM-1b 0.00
- A200T (p.Ala200Thr), Ensembl rs1880118257, ESM-1b 0.00, AlphaMissense 0.67
- Q201* (p.Gln201Ter), rs1029377279, ClinGen CA386872160, ClinVar RCV000689489, Ensembl rs1029377279, Pathogenic
- Q201E (p.Gln201Glu), rs1029377279, ClinGen CA386872161, ClinVar RCV003390311, ClinVar RCV004364507, REVEL 0.58, ESM-1b 0.00, Uncertain significance, not provided; Cardiac anomalies - developmental delay - facial dysmorphism syndr
- Q201H (p.Gln201His), rs1880117720, ClinGen CA386872155, ClinVar RCV001036208, ClinVar RCV005660015, ESM-1b 0.00, AlphaMissense 0.32, Conflicting interpretations, Inborn genetic diseases; Dextro-looped transposition of the great arteries
- Q201K (p.Gln201Lys), Ensembl rs1029377279, ESM-1b 0.00, AlphaMissense 0.14, Pathogenic
- P204A (p.Pro204Ala), rs1472219916, ClinGen CA386872140, ClinVar RCV003330179, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- P204L (p.Pro204Leu), rs772556855, ClinGen CA6811633, ClinVar RCV003085060, ExAC rs772556855, REVEL 0.14, ESM-1b 0.00, Likely benign, Dextro-looped transposition of the great arteries
- P204S (p.Pro204Ser), gnomAD rs1472219916, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance
- Q208R (p.Gln208Arg), TOPMed rs1370064475, gnomAD rs1370064475, REVEL 0.55, ESM-1b 0.00
- V209I (p.Val209Ile), rs1201515238, NCI-TCGA Cosmic COSV5612, NCI-TCGA Cosmic COSV9992, gnomAD rs1201515238, REVEL 0.49, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- V211I (p.Val211Ile), TOPMed rs1345974378, gnomAD rs1345974378, REVEL 0.20, ESM-1b 0.00
- Y214C (p.Tyr214Cys), rs779946861, ClinGen CA6811605, ClinVar RCV002995850, ExAC rs779946861, REVEL 0.86, ESM-1b 0.00, Likely benign, Dextro-looped transposition of the great arteries
- L216F (p.Leu216Phe), gnomAD rs1475891731, ESM-1b 1.00, AlphaMissense 0.55
- L216S (p.Leu216Ser), Ensembl rs1879958481, ESM-1b 1.00, AlphaMissense 0.99
- N217S (p.Asn217Ser), ExAC rs772021396, TOPMed rs772021396, gnomAD rs772021396, REVEL 0.22, ESM-1b 0.00, Uncertain significance
- N217T (p.Asn217Thr), rs772021396, ClinGen CA6811604, ClinVar RCV000238637, ClinVar RCV003603045, REVEL 0.29, ESM-1b 0.00, Uncertain significance, not specified; Dextro-looped transposition of the great arteries
- G218A (p.Gly218Ala), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.59, Variant assessed as somatic; moderate impact.
- G218R (p.Gly218Arg), rs546865056, ClinGen CA244127702, ClinVar RCV003227206, 1000Genomes rs546865056, ESM-1b 1.00, AlphaMissense 1.00, Likely pathogenic, not provided
- T219M (p.Thr219Met), rs191743300, ClinGen CA6811603, NCI-TCGA Cosmic COSV5612, ClinVar RCV000498832, REVEL 0.69, ESM-1b 1.00, Conflicting interpretations, not specified; Dextro-looped transposition of the great arteries; not provided
- L220P (p.Leu220Pro), gnomAD rs1394205144, REVEL 0.92, ESM-1b 1.00
- L220V (p.Leu220Val), ExAC rs778691635, TOPMed rs778691635, gnomAD rs778691635, REVEL 0.73, ESM-1b 0.00, Likely benign
- G222A (p.Gly222Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q223H (p.Gln223His), TOPMed rs1879956428, gnomAD rs1879956428, REVEL 0.29, ESM-1b 0.00
Public MED13L analysis runs
- MED13L analysis run — MED13L (2,226 variants) — completed 2026-10-09