VPS13C (Q709C8) variants and mutations
VPS13C (also known as Q709C8) is a human protein-coding gene encoding an intermembrane lipid transfer protein. Its annotated function is mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential. It is annotated at the mitochondrion outer membrane. This analysis covers 4,376 VPS13C variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes young-onset Parkinson disease, Parkinson disease, and type 2 diabetes mellitus. Example VPS13C variants include E4Q, S5L, and V6A.
Variant analysis overview
- Gene: VPS13C
- Protein: Q709C8
- UniProt accession: Q709C8
- Organism: Homo sapiens
- Variants analyzed: 4376
- Variant scope: all variants
- Completed: 2026-10-26
Variant and mutation evidence
- Variant composition: 4,524 unspecified-consequence records; 72 synonymous variants; 67 missense variants; 6 frameshift variants; 1 in-frame insertions; 9 stop-gained variants; 4 splice-region variants; 1 in-frame deletions; 2 stop lost
- Prediction scores: 4,232 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: young-onset Parkinson disease, Parkinson disease, type 2 diabetes mellitus, neurodegenerative disease, diabetes mellitus, Abnormality of the skeletal system, hemorrhage, complication, metabolic syndrome, intellectual developmental disorder with or without epilepsy or cerebellar ataxi, open-angle glaucoma, systemic lupus erythematosus.
Protein structure and variant hotspots
- Protein features: 2 domains; 14 post-translational modification sites.
- Structural context: 441 variants have structural context.
- PTM context: 18 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, Protein Data Bank, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable VPS13C variants
Examples include E4Q, S5L, V6A, V7A, V7I, A8P, A8T, A8V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E4Q (p.Glu4Gln), rs780418987, ClinGen CA7597735, ClinVar RCV001929267, ExAC rs780418987, REVEL 0.72, ESM-1b 1.00, Uncertain significance, not provided
- S5L (p.Ser5Leu), Ensembl rs1849045344, REVEL 0.77, ESM-1b 1.00
- V6A (p.Val6Ala), TOPMed rs1424768791, gnomAD rs1424768791, REVEL 0.60, ESM-1b 1.00
- V7A (p.Val7Ala), ExAC rs753568052, gnomAD rs753568052, REVEL 0.74, ESM-1b 1.00
- V7I (p.Val7Ile), TOPMed rs1263199894, gnomAD rs1263199894, REVEL 0.51, ESM-1b 1.00
- A8P (p.Ala8Pro), ExAC rs763824886, gnomAD rs763824886, REVEL 0.69, ESM-1b 1.00
- A8T (p.Ala8Thr), ExAC rs763824886, gnomAD rs763824886, REVEL 0.34, ESM-1b 0.00
- A8V (p.Ala8Val), rs760327607, ExAC rs760327607, TOPMed rs760327607, gnomAD rs760327607, REVEL 0.24, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D9E (p.Asp9Glu), gnomAD rs1382516219, REVEL 0.53, ESM-1b 1.00
- D9Y (p.Asp9Tyr), TOPMed rs2048962874, REVEL 0.65, ESM-1b 0.82
- L10* (p.Leu10Ter), gnomAD rs1325206522, CADD 37.00
- N12H (p.Asn12His), TOPMed rs1363797251, gnomAD rs1363797251, REVEL 0.70, ESM-1b 1.00
- N12S (p.Asn12Ser), TOPMed rs1464536325, REVEL 0.52, ESM-1b 1.00
- R13C (p.Arg13Cys), TOPMed rs2048962362, REVEL 0.78, ESM-1b 1.00
- F14L (p.Phe14Leu), ExAC rs759466986, TOPMed rs759466986, gnomAD rs759466986, REVEL 0.60, ESM-1b 0.60
- G16V (p.Gly16Val), Ensembl rs979542113, REVEL 0.80, ESM-1b 1.00
- D17G (p.Asp17Gly), rs1464137000, ClinGen CA392678374, ClinVar RCV002620045, TOPMed rs1464137000, REVEL 0.60, ESM-1b 0.52, Uncertain significance, not provided
- D17N (p.Asp17Asn), cosmic curated COSV10505, ExAC rs774042449, TOPMed rs774042449, gnomAD rs774042449, REVEL 0.38, ESM-1b 0.00
- Y18F (p.Tyr18Phe), Ensembl rs2048961598, REVEL 0.61, ESM-1b 0.09
- V19E (p.Val19Glu), Ensembl rs1596552971, REVEL 0.91, ESM-1b 1.00
- E20D (p.Glu20Asp), TOPMed rs2048961409, REVEL 0.32, ESM-1b 0.68
- N21K (p.Asn21Lys), ExAC rs762630528, TOPMed rs762630528, gnomAD rs762630528, REVEL 0.78, ESM-1b 1.00
- N21S (p.Asn21Ser), Ensembl rs947661270, REVEL 0.56, ESM-1b 1.00
- L22R (p.Leu22Arg), TOPMed rs1183422854, gnomAD rs1183422854, REVEL 0.92, ESM-1b 1.00
- L22V (p.Leu22Val), gnomAD rs1254476108, REVEL 0.64, ESM-1b 0.63
- N23K (p.Asn23Lys), cosmic curated COSV99827, TOPMed rs965627981, REVEL 0.37, ESM-1b 1.00
- K24N (p.Lys24Asn), ExAC rs773485474, gnomAD rs773485474, REVEL 0.34, ESM-1b 1.00
- S25C (p.Ser25Cys), ExAC rs770003349, TOPMed rs770003349, gnomAD rs770003349, REVEL 0.69, ESM-1b 1.00
- S25P (p.Ser25Pro), Ensembl rs1227718804, REVEL 0.71, ESM-1b 1.00
- S25T (p.Ser25Thr), Ensembl rs1227718804, REVEL 0.53, ESM-1b 0.99
- Q26* (p.Gln26Ter), TOPMed rs2048959965, CADD 39.00
- Q26H (p.Gln26His), ESP rs371034613, ExAC rs371034613, TOPMed rs371034613, gnomAD rs371034613, REVEL 0.61, ESM-1b 1.00
- Q26R (p.Gln26Arg), Ensembl rs2048959806, REVEL 0.79, ESM-1b 1.00
- L27M (p.Leu27Met), ExAC rs776636452, gnomAD rs776636452, REVEL 0.75, ESM-1b 1.00
- L27V (p.Leu27Val), ExAC rs776636452, gnomAD rs776636452, REVEL 0.67, ESM-1b 1.00
- K28Q (p.Lys28Gln), TOPMed rs2048959303, REVEL 0.58, ESM-1b 1.00
- G30A (p.Gly30Ala), ExAC rs747511955, gnomAD rs747511955, REVEL 0.65, ESM-1b 1.00
- G30D (p.Gly30Asp), ExAC rs747511955, gnomAD rs747511955, REVEL 0.77, ESM-1b 1.00
- G30R (p.Gly30Arg), TOPMed rs914849309, gnomAD rs914849309, REVEL 0.84, ESM-1b 1.00
- I31L (p.Ile31Leu), ExAC rs780395971, gnomAD rs780395971, REVEL 0.41, ESM-1b 1.00
- I31M (p.Ile31Met), TOPMed rs1205988429, gnomAD rs1205988429, REVEL 0.63, ESM-1b 1.00
- I31V (p.Ile31Val), ExAC rs780395971, gnomAD rs780395971, REVEL 0.42, ESM-1b 0.57
- G33C (p.Gly33Cys), TOPMed rs2048957671, REVEL 0.84, ESM-1b 1.00
- G34A (p.Gly34Ala), Ensembl rs2048335516, REVEL 0.83, ESM-1b 1.00
- N35Y (p.Asn35Tyr), rs574439435, ClinGen CA7597689, ClinVar RCV002100709, 1000Genomes rs574439435, REVEL 0.68, ESM-1b 1.00, Likely benign, not provided
- A37D (p.Ala37Asp), TOPMed rs2048335117, REVEL 0.67, ESM-1b 1.00
- A37S (p.Ala37Ser), ExAC rs761567232, TOPMed rs761567232, gnomAD rs761567232, REVEL 0.42, ESM-1b 0.00
- A37T (p.Ala37Thr), ExAC rs761567232, TOPMed rs761567232, gnomAD rs761567232, REVEL 0.45, ESM-1b 0.00
- D39A (p.Asp39Ala), ExAC rs764210128, TOPMed rs764210128, gnomAD rs764210128, REVEL 0.42, ESM-1b 0.55
- D39E (p.Asp39Glu), TOPMed rs1319003124, REVEL 0.25, ESM-1b 0.00
- D39G (p.Asp39Gly), ExAC rs764210128, TOPMed rs764210128, gnomAD rs764210128, REVEL 0.45, ESM-1b 1.00
- D39H (p.Asp39His), ExAC rs754108368, TOPMed rs754108368, gnomAD rs754108368, REVEL 0.47, ESM-1b 0.49
- D39N (p.Asp39Asn), ExAC rs754108368, TOPMed rs754108368, gnomAD rs754108368, REVEL 0.41, ESM-1b 0.00
- L41I (p.Leu41Ile), ExAC rs186009000, TOPMed rs186009000, gnomAD rs186009000, REVEL 0.61, ESM-1b 1.00
- L41V (p.Leu41Val), ExAC rs186009000, TOPMed rs186009000, gnomAD rs186009000, REVEL 0.63, ESM-1b 1.00
- Q42* (p.Gln42Ter), gnomAD rs1462313345, CADD 40.00
- Q42P (p.Gln42Pro), Ensembl rs2140731658, REVEL 0.40, ESM-1b 0.11
- I43L (p.Ile43Leu), TOPMed rs1009689306, gnomAD rs1009689306, REVEL 0.36, ESM-1b 0.00, Uncertain significance
- I43M (p.Ile43Met), gnomAD rs1316616403, REVEL 0.65, ESM-1b 1.00
- I43V (p.Ile43Val), rs1009689306, ClinGen CA271895964, ClinVar RCV001883658, TOPMed rs1009689306, REVEL 0.29, ESM-1b 0.00, Uncertain significance, not provided
- K44Q (p.Lys44Gln), cosmic curated COSV51141, ExAC rs772653631, TOPMed rs772653631, gnomAD rs772653631, REVEL 0.75, ESM-1b 1.00
- E45D (p.Glu45Asp), Ensembl rs2048333931, REVEL 0.47, ESM-1b 1.00
- L48R (p.Leu48Arg), ExAC rs765573936, gnomAD rs765573936, REVEL 0.93, ESM-1b 1.00
- E50K (p.Glu50Lys), TOPMed rs1218168458, gnomAD rs1218168458, REVEL 0.53, ESM-1b 1.00
- V53I (p.Val53Ile), TOPMed rs893617553, REVEL 0.30, ESM-1b 0.00
- P54H (p.Pro54His), TOPMed rs762410291, gnomAD rs762410291, REVEL 0.93, ESM-1b 1.00
- P54R (p.Pro54Arg), TOPMed rs762410291, gnomAD rs762410291, REVEL 0.94, ESM-1b 1.00
- P54S (p.Pro54Ser), rs1313899885, ClinGen CA392675872, ClinVar RCV002824446, TOPMed rs1313899885, REVEL 0.93, ESM-1b 1.00, Uncertain significance, not provided
- P54T (p.Pro54Thr), TOPMed rs1313899885, gnomAD rs1313899885, REVEL 0.95, ESM-1b 1.00, Uncertain significance
- F55S (p.Phe55Ser), ExAC rs746605224, gnomAD rs746605224, REVEL 0.94, ESM-1b 1.00
- K56* (p.Lys56Ter), Ensembl rs182561024
- V57I (p.Val57Ile), Ensembl rs2140711994, REVEL 0.35, ESM-1b 0.56
- A59P (p.Ala59Pro), ExAC rs771622572, TOPMed rs771622572, gnomAD rs771622572, REVEL 0.74, ESM-1b 1.00
- A59S (p.Ala59Ser), ExAC rs771622572, TOPMed rs771622572, gnomAD rs771622572, REVEL 0.40, ESM-1b 1.00
- A59G (p.Ala59Gly), NCI-TCGA Cosmic COSV5116, cosmic curated COSV51163, Variant assessed as somatic; moderate impact.
- G60V (p.Gly60Val), gnomAD rs1326330133, REVEL 0.90, ESM-1b 1.00
- Q61E (p.Gln61Glu), gnomAD rs2048234754, REVEL 0.50, ESM-1b 1.00
- I62T (p.Ile62Thr), Ensembl rs2140711853, REVEL 0.94, ESM-1b 1.00
- D63E (p.Asp63Glu), TOPMed rs1255015560, REVEL 0.39, ESM-1b 0.00
- D63G (p.Asp63Gly), TOPMed rs1224271827, gnomAD rs1224271827, REVEL 0.35, ESM-1b 0.00
- D63V (p.Asp63Val), TOPMed rs1224271827, gnomAD rs1224271827, REVEL 0.71, ESM-1b 0.00
- D63Y (p.Asp63Tyr), ExAC rs745369260, gnomAD rs745369260, REVEL 0.63, ESM-1b 0.00
- K64I (p.Lys64Ile), TOPMed rs903266148, REVEL 0.79, ESM-1b 1.00
- K64Q (p.Lys64Gln), Ensembl rs2047943117, REVEL 0.62, ESM-1b 1.00
- K64T (p.Lys64Thr), NCI-TCGA TCGA novel, TOPMed rs903266148, REVEL 0.65, ESM-1b 0.91, Variant assessed as somatic; moderate impact.
- K68R (p.Lys68Arg), TOPMed rs1201619555, gnomAD rs1201619555, REVEL 0.68, ESM-1b 0.21
- P70A (p.Pro70Ala), TOPMed rs1245655927, gnomAD rs1245655927, REVEL 0.86, ESM-1b 1.00
- W71L (p.Trp71Leu), TOPMed rs1464416526, gnomAD rs1464416526, REVEL 0.73, ESM-1b 1.00
- W71S (p.Trp71Ser), TOPMed rs1464416526, gnomAD rs1464416526, REVEL 0.81, ESM-1b 1.00
- K72N (p.Lys72Asn), cosmic curated COSV51229, ExAC rs770884783, TOPMed rs770884783, gnomAD rs770884783, REVEL 0.61, ESM-1b 0.00
- N73K (p.Asn73Lys), ExAC rs749221725, TOPMed rs749221725, gnomAD rs749221725, REVEL 0.54, ESM-1b 1.00
- E77K (p.Glu77Lys), rs202047135, NCI-TCGA Cosmic COSV5113, cosmic curated COSV51137, 1000Genomes rs202047135, REVEL 0.49, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- A78G (p.Ala78Gly), ExAC rs747967361, gnomAD rs747967361, REVEL 0.69, ESM-1b 1.00
- V80F (p.Val80Phe), rs116290723, ClinGen CA7597627, ClinVar RCV001901871, 1000Genomes rs116290723, REVEL 0.73, ESM-1b 1.00, Uncertain significance, not provided
- V80I (p.Val80Ile), 1000Genomes rs116290723, ESP rs116290723, ExAC rs116290723, TOPMed rs116290723, REVEL 0.19, ESM-1b 0.00, Uncertain significance
- A81T (p.Ala81Thr), ExAC rs751716596, TOPMed rs751716596, gnomAD rs751716596, REVEL 0.74, ESM-1b 1.00
- A81V (p.Ala81Val), rs151147947, ClinGen CA7597625, ClinVar RCV001931670, ESP rs151147947, REVEL 0.53, ESM-1b 0.66, Uncertain significance, not provided
- T82G (p.Thr82Gly), NCI-TCGA Cosmic COSV5112, cosmic curated COSV51121, Variant assessed as somatic; moderate impact.
- T82A (p.Thr82Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L86V (p.Leu86Val), TOPMed rs1174458052, REVEL 0.44, ESM-1b 0.00
- L88V (p.Leu88Val), cosmic curated COSV10584, ExAC rs762151117, gnomAD rs762151117, REVEL 0.52, ESM-1b 0.58
- V90F (p.Val90Phe), TOPMed rs909398641, gnomAD rs909398641, REVEL 0.73, ESM-1b 1.00
- V90I (p.Val90Ile), TOPMed rs909398641, gnomAD rs909398641, REVEL 0.16, ESM-1b 0.00
- V91F (p.Val91Phe), rs1260567567, NCI-TCGA Cosmic COSV9982, cosmic curated COSV99827, gnomAD rs1260567567, REVEL 0.79, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G93V (p.Gly93Val), rs759149177, ExAC rs759149177, gnomAD rs759149177, REVEL 0.61, ESM-1b 0.89, Variant assessed as somatic; moderate impact.
- A94E (p.Ala94Glu), ExAC rs773959745, gnomAD rs773959745, REVEL 0.56, ESM-1b 1.00
- A94T (p.Ala94Thr), TOPMed rs1321754599, REVEL 0.49, ESM-1b 0.00
- I96F (p.Ile96Phe), ESP rs142305905, ExAC rs142305905, gnomAD rs142305905, REVEL 0.52, ESM-1b 1.00
- K97E (p.Lys97Glu), ExAC rs772717076, gnomAD rs772717076, REVEL 0.48, ESM-1b 1.00
- K97Q (p.Lys97Gln), ExAC rs772717076, gnomAD rs772717076, REVEL 0.56, ESM-1b 0.41
- D99G (p.Asp99Gly), gnomAD rs1334626339, REVEL 0.81, ESM-1b 1.00
- V101E (p.Val101Glu), Ensembl rs2140649952, REVEL 0.21, ESM-1b 0.00
- V101I (p.Val101Ile), gnomAD rs1040047782, REVEL 0.31, ESM-1b 0.00
- K102E (p.Lys102Glu), ExAC rs769645120, gnomAD rs769645120, REVEL 0.54, ESM-1b 0.00
- E104G (p.Glu104Gly), TOPMed rs1304703659, gnomAD rs1304703659, REVEL 0.57, ESM-1b 1.00
- K105E (p.Lys105Glu), TOPMed rs1460613285, gnomAD rs1460613285, REVEL 0.51, ESM-1b 0.00
- K105Q (p.Lys105Gln), TOPMed rs1460613285, gnomAD rs1460613285, REVEL 0.49, ESM-1b 0.00
- S106F (p.Ser106Phe), TOPMed rs1358364995, REVEL 0.12, ESM-1b 0.00
- S106T (p.Ser106Thr), TOPMed rs1290000637, REVEL 0.21, ESM-1b 0.00
- L107F (p.Leu107Phe), gnomAD rs1451733484, REVEL 0.45, ESM-1b 0.00
- Q108R (p.Gln108Arg), ExAC rs768625162, gnomAD rs768625162, REVEL 0.53, ESM-1b 0.52
- D109G (p.Asp109Gly), ESP rs373013958, ExAC rs373013958, TOPMed rs373013958, gnomAD rs373013958, REVEL 0.48, ESM-1b 0.79
- V110D (p.Val110Asp), gnomAD rs911493647, REVEL 0.22, ESM-1b 0.92
- V110F (p.Val110Phe), gnomAD rs1201702799, REVEL 0.15, ESM-1b 0.00
- K111E (p.Lys111Glu), gnomAD rs1250421946, REVEL 0.81, ESM-1b 1.00
- K111R (p.Lys111Arg), ExAC rs772271867, gnomAD rs772271867, REVEL 0.57, ESM-1b 0.48
- Q112R (p.Gln112Arg), ExAC rs745949749, gnomAD rs745949749, REVEL 0.44, ESM-1b 0.16
- E114D (p.Glu114Asp), ExAC rs757250565, gnomAD rs757250565, REVEL 0.30, ESM-1b 0.98
- S116F (p.Ser116Phe), rs868568260, NCI-TCGA Cosmic COSV5131, cosmic curated COSV51317, gnomAD rs868568260, REVEL 0.29, ESM-1b 0.51, Variant assessed as somatic; moderate impact.
- S116P (p.Ser116Pro), ExAC rs754390607, gnomAD rs754390607, REVEL 0.25, ESM-1b 1.00
- R117* (p.Arg117Ter), rs778239562, ClinGen CA7597583, ClinVar RCV002639626, ExAC rs778239562, CADD 36.00, Pathogenic
- R117Q (p.Arg117Gln), rs756534061, ClinGen CA7597582, NCI-TCGA Cosmic COSV5142, cosmic curated COSV51422, REVEL 0.50, ESM-1b 0.00, Uncertain significance, not provided
- I118V (p.Ile118Val), ExAC rs752989073, gnomAD rs752989073, REVEL 0.46, ESM-1b 0.00
- E119D (p.Glu119Asp), ExAC rs765958790, TOPMed rs765958790, gnomAD rs765958790, REVEL 0.30, ESM-1b 0.27
- A121V (p.Ala121Val), gnomAD rs1364066923, REVEL 0.18, ESM-1b 0.00
- L122P (p.Leu122Pro), ExAC rs749936773, gnomAD rs749936773, REVEL 0.32, ESM-1b 1.00
- L122V (p.Leu122Val), Ensembl rs1596507218, REVEL 0.12, ESM-1b 0.00
- K124I (p.Lys124Ile), gnomAD rs1370737800, REVEL 0.08, ESM-1b 1.00
- K124N (p.Lys124Asn), TOPMed rs2047884335, REVEL 0.07, ESM-1b 0.00
- A125V (p.Ala125Val), gnomAD rs1188944233, REVEL 0.06, ESM-1b 0.00
- A126C (p.Ala126Cys), NCI-TCGA Cosmic COSV5130, cosmic curated COSV51303, Variant assessed as somatic; moderate impact.
- E127D (p.Glu127Asp), Ensembl rs2047884162, REVEL 0.01, ESM-1b 0.00
- G129D (p.Gly129Asp), rs200758205, ClinGen CA271939285, ClinVar RCV003853592, ClinVar RCV004750942, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not provided
- T130C (p.Thr130Cys), NCI-TCGA Cosmic COSV5132, cosmic curated COSV51321, Variant assessed as somatic; moderate impact.
- T130A (p.Thr130Ala), Ensembl rs2047709217, REVEL 0.06, ESM-1b 0.00
- T130I (p.Thr130Ile), Ensembl rs2047709149, REVEL 0.04, ESM-1b 0.00, Uncertain significance
- T130R (p.Thr130Arg), rs2047709149, ClinGen CA392692646, ClinVar RCV002851566, REVEL 0.02, ESM-1b 0.00, Uncertain significance, not provided
- H131R (p.His131Arg), rs200672130, ClinGen CA7597549, ClinVar RCV002913944, 1000Genomes rs200672130, REVEL 0.03, ESM-1b 0.00, Likely benign, not provided
- H131Y (p.His131Tyr), ExAC rs749379164, TOPMed rs749379164, gnomAD rs749379164, REVEL 0.07, ESM-1b 0.00
- S132* (p.Ser132Ter), gnomAD rs1159170881, CADD 38.00
- G133E (p.Gly133Glu), gnomAD rs1458371183, REVEL 0.07, ESM-1b 0.00
- G133T (p.Gly133Thr), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.12, Variant assessed as somatic; high impact.
- E134K (p.Glu134Lys), rs1567127234, Ensembl rs1567127234, REVEL 0.12, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- F135L (p.Phe135Leu), TOPMed rs1478172880, gnomAD rs1478172880, REVEL 0.25, ESM-1b 0.00
- I136R (p.Ile136Arg), Ensembl rs2047708279, REVEL 0.16, ESM-1b 0.00
- Y137* (p.Tyr137Ter), ExAC rs770314489, gnomAD rs770314489, CADD 36.00
- Y137H (p.Tyr137His), gnomAD rs2047708185, REVEL 0.09, ESM-1b 0.00
- G138T (p.Gly138Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L139F (p.Leu139Phe), ExAC rs748697696, gnomAD rs748697696, REVEL 0.10, ESM-1b 0.00
- L139S (p.Leu139Ser), TOPMed rs1185461122, REVEL 0.25, ESM-1b 0.00
- E140G (p.Glu140Gly), ExAC rs781531576, REVEL 0.17, ESM-1b 0.00
- N141D (p.Asn141Asp), ExAC rs755431892, TOPMed rs755431892, gnomAD rs755431892, REVEL 0.04, ESM-1b 0.00
- V143F (p.Val143Phe), TOPMed rs190222028, gnomAD rs190222028, REVEL 0.11, ESM-1b 0.00
- V143L (p.Val143Leu), TOPMed rs190222028, gnomAD rs190222028, REVEL 0.03, ESM-1b 0.00
- Y144D (p.Tyr144Asp), gnomAD rs1460030098, REVEL 0.32, ESM-1b 0.00, Uncertain significance, not provided
- Y144S (p.Tyr144Ser), Ensembl rs186094508, REVEL 0.21, ESM-1b 0.00
- D146G (p.Asp146Gly), TOPMed rs1347461520, gnomAD rs1347461520, REVEL 0.10, ESM-1b 0.00
- D146N (p.Asp146Asn), ExAC rs756914549, gnomAD rs756914549, REVEL 0.02, ESM-1b 0.00
- D146V (p.Asp146Val), TOPMed rs1347461520, gnomAD rs1347461520, REVEL 0.20, ESM-1b 0.00
- P149A (p.Pro149Ala), Ensembl rs2047706848, REVEL 0.05, ESM-1b 0.00
- G150E (p.Gly150Glu), ExAC rs777553310, gnomAD rs777553310, REVEL 0.12, ESM-1b 0.00
- G150C (p.Gly150Cys), NCI-TCGA Cosmic COSV5142, cosmic curated COSV51425, Variant assessed as somatic; moderate impact.
- R151C (p.Arg151Cys), cosmic curated COSV51138, ExAC rs755752127, TOPMed rs755752127, gnomAD rs755752127, REVEL 0.18, ESM-1b 0.31
- R151H (p.Arg151His), rs150013617, cosmic curated COSV10722, ESP rs150013617, ExAC rs150013617, REVEL 0.03, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- K152R (p.Lys152Arg), cosmic curated COSV51269, ExAC rs781198699, TOPMed rs781198699, gnomAD rs781198699, REVEL 0.12, ESM-1b 0.00
- R153C (p.Arg153Cys), rs180757384, ClinGen CA7597517, cosmic curated COSV99827, ClinVar RCV003079332, REVEL 0.10, ESM-1b 0.32, Conflicting interpretations, not provided
- R153H (p.Arg153His), rs12595158, ClinGen CA7597516, cosmic curated COSV51191, ClinVar RCV001670764, REVEL 0.05, ESM-1b 0.00, Benign, not specified; not provided
- R153L (p.Arg153Leu), cosmic curated COSV51128, 1000Genomes rs12595158, ESP rs12595158, ExAC rs12595158, REVEL 0.04, ESM-1b 0.00, Benign
- R153S (p.Arg153Ser), 1000Genomes rs180757384, ExAC rs180757384, TOPMed rs180757384, gnomAD rs180757384, REVEL 0.02, ESM-1b 0.00, Likely benign
- K155N (p.Lys155Asn), TOPMed rs1260506994, REVEL 0.10, ESM-1b 0.00
Public VPS13C analysis runs
- VPS13C analysis run — VPS13C (4,376 variants) — completed 2026-10-26