{
  "url": "https://dantelabs.com/pt/genes/scn5a",
  "gene": {
    "slug": "scn5a",
    "symbol": "SCN5A",
    "name": "sodium voltage-gated channel alpha subunit 5",
    "hgnc": "HGNC:10593",
    "summary": null,
    "location": "3p22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "Nav1.5",
      "LQT3",
      "HB1",
      "HBBD",
      "PFHB1",
      "IVF",
      "HB2",
      "HH1",
      "SSS1",
      "CDCD2",
      "CMPD2",
      "ICCD"
    ],
    "previousSymbols": [
      "CMD1E"
    ],
    "ensemblId": "ENSG00000183873",
    "entrezId": 6331,
    "omim": [
      "600163"
    ],
    "uniprot": [
      "Q14524"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 38548062,
      "end": 38649687,
      "strand": "-",
      "ensemblTranscript": "ENST00000423572.7",
      "refseqTranscript": "NM_000335.5",
      "ensemblProtein": "ENSP00000398266.2",
      "refseqProtein": "NP_000326.2",
      "exons": [
        {
          "start": 38548062,
          "end": 38551558
        },
        {
          "start": 38554279,
          "end": 38554549
        },
        {
          "start": 38555656,
          "end": 38555760
        },
        {
          "start": 38556441,
          "end": 38556578
        },
        {
          "start": 38557231,
          "end": 38557284
        },
        {
          "start": 38560147,
          "end": 38560428
        },
        {
          "start": 38562415,
          "end": 38562537
        },
        {
          "start": 38566409,
          "end": 38566582
        },
        {
          "start": 38575297,
          "end": 38575451
        },
        {
          "start": 38576661,
          "end": 38576781
        },
        {
          "start": 38579334,
          "end": 38579492
        },
        {
          "start": 38580931,
          "end": 38581371
        },
        {
          "start": 38585691,
          "end": 38586041
        },
        {
          "start": 38587400,
          "end": 38587573
        },
        {
          "start": 38597729,
          "end": 38597967
        },
        {
          "start": 38598918,
          "end": 38599050
        },
        {
          "start": 38603712,
          "end": 38604083
        },
        {
          "start": 38604729,
          "end": 38604908
        },
        {
          "start": 38605951,
          "end": 38606148
        },
        {
          "start": 38606669,
          "end": 38606810
        },
        {
          "start": 38608151,
          "end": 38608214
        },
        {
          "start": 38609734,
          "end": 38609964
        },
        {
          "start": 38613743,
          "end": 38613834
        },
        {
          "start": 38620843,
          "end": 38620971
        },
        {
          "start": 38622400,
          "end": 38622489
        },
        {
          "start": 38630311,
          "end": 38630429
        },
        {
          "start": 38633035,
          "end": 38633359
        },
        {
          "start": 38649531,
          "end": 38649687
        }
      ],
      "cds": {
        "start": 38550321,
        "end": 38633307
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 38589548,
      "end": 38691164,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 38098875,
      "end": 39098874,
      "genes": [
        {
          "symbol": "DLEC1",
          "ensemblId": "ENSG00000008226",
          "biotype": "protein_coding",
          "start": 38039190,
          "end": 38124025,
          "strand": "+",
          "slug": "dlec1"
        },
        {
          "symbol": "ACAA1",
          "ensemblId": "ENSG00000060971",
          "biotype": "protein_coding",
          "start": 38103129,
          "end": 38137647,
          "strand": "-",
          "slug": "acaa1"
        },
        {
          "symbol": "MYD88",
          "ensemblId": "ENSG00000172936",
          "biotype": "protein_coding",
          "start": 38138552,
          "end": 38143024,
          "strand": "+",
          "slug": "myd88"
        },
        {
          "symbol": "OXSR1",
          "ensemblId": "ENSG00000172939",
          "biotype": "protein_coding",
          "start": 38165089,
          "end": 38255487,
          "strand": "+",
          "slug": "oxsr1"
        },
        {
          "symbol": "SLC22A13",
          "ensemblId": "ENSG00000172940",
          "biotype": "protein_coding",
          "start": 38265812,
          "end": 38278757,
          "strand": "+",
          "slug": "slc22a13"
        },
        {
          "symbol": "SLC22A14",
          "ensemblId": "ENSG00000144671",
          "biotype": "protein_coding",
          "start": 38282294,
          "end": 38318575,
          "strand": "+",
          "slug": "slc22a14"
        },
        {
          "symbol": "XYLB",
          "ensemblId": "ENSG00000093217",
          "biotype": "protein_coding",
          "start": 38346743,
          "end": 38428434,
          "strand": "+",
          "slug": "xylb"
        },
        {
          "symbol": "ACVR2B",
          "ensemblId": "ENSG00000114739",
          "biotype": "protein_coding",
          "start": 38453843,
          "end": 38493142,
          "strand": "+",
          "slug": "acvr2b"
        },
        {
          "symbol": "EXOG",
          "ensemblId": "ENSG00000157036",
          "biotype": "protein_coding",
          "start": 38496127,
          "end": 38542242,
          "strand": "+",
          "slug": "exog"
        },
        {
          "symbol": "SCN10A",
          "ensemblId": "ENSG00000185313",
          "biotype": "protein_coding",
          "start": 38696802,
          "end": 38816286,
          "strand": "-",
          "slug": "scn10a"
        },
        {
          "symbol": "SCN11A",
          "ensemblId": "ENSG00000168356",
          "biotype": "protein_coding",
          "start": 38845758,
          "end": 39052157,
          "strand": "-",
          "slug": "scn11a"
        },
        {
          "symbol": "WDR48",
          "ensemblId": "ENSG00000114742",
          "biotype": "protein_coding",
          "start": 39051991,
          "end": 39096671,
          "strand": "+",
          "slug": "wdr48"
        },
        {
          "symbol": "GORASP1",
          "ensemblId": "ENSG00000114745",
          "biotype": "protein_coding",
          "start": 39095222,
          "end": 39108369,
          "strand": "-",
          "slug": "gorasp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "brugada-syndrome",
        "name": "Síndrome de Brugada",
        "diseases": [
          {
            "mondoId": "MONDO:0015263",
            "name": "Síndrome de Brugada",
            "genes": 1,
            "inheritance": null,
            "description": "Condição geneticamente heterogénea caracterizada por bloqueio de ramo direito completo ou incompleto, acompanhado de elevação do segmento ST nas derivações V1–V3. Existe uma incidência elevada de arritmia ventricular, que pode resultar em morte súbita.",
            "management": "Colocação de CDI, gestão da febre, aconselhamento genético, evitar fármacos desencadeantes",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/brugada-syndrome"
      },
      {
        "slug": "cardiac-conduction-disease-sick-sinus-syndrome",
        "name": "Doença Cardíaca de Condução Progressiva e Síndrome do Nó Sinusal Doente",
        "diseases": [
          {
            "mondoId": "MONDO:1010181",
            "name": "Perturbação do Ritmo Cardíaco Associada a SCN5A",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Um conjunto de perturbações do ritmo cardíaco causadas por alterações no SCN5A, incluindo doença de condução, síndrome do nó sinusal doente, síndrome de Brugada, síndrome do QT longo tipo 3 e fibrilhação auricular, normalmente num coração com estrutura normal.",
            "management": "Conhecer esta condição facilita a monitorização por ECG, a evitação de determinados medicamentos e o rastreio por ECG dos familiares.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019490",
            "name": "Bloqueio Cardíaco Familiar Progressivo",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "Uma perturbação hereditária da condução, causada por alterações em genes como o SCN5A e o TRPM4, que pode progredir para bloqueio cardíaco completo, causando tonturas, desmaios ou, raramente, morte súbita.",
            "management": "Conhecer esta condição facilita a realização regular de ECG e a colocação atempada de um pacemaker.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0012061",
            "name": "Síndrome do Nó Sinusal Doente Familiar",
            "genes": 2,
            "inheritance": null,
            "description": "Uma disfunção hereditária do pacemaker natural do coração, causada por alterações em genes como o HCN4, o SCN5A e o MYH6, que provoca ritmos cardíacos lentos ou irregulares.",
            "management": "Conhecer esta condição facilita a monitorização de ritmos cardíacos lentos e a colocação de um pacemaker caso surjam sintomas.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/cardiac-conduction-disease-sick-sinus-syndrome"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Miocardiopatia Dilatada",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Miocardiopatia Dilatada",
            "genes": 50,
            "inheritance": null,
            "description": "Aumento e enfraquecimento do ventrículo esquerdo não explicados por doença das artérias coronárias ou das válvulas; as formas hereditárias envolvem TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN e muitos outros genes, e incluem a síndrome de Barth e as distrofias musculares de Emery-Dreifuss.",
            "management": "Conhecer uma causa genética apoia a monitorização cardíaca precoce e o rastreio familiar e, para genes com elevado risco de arritmia, como LMNA, FLNC e RBM20, orienta as decisões sobre a monitorização do ritmo e sobre os desfibrilhadores implantáveis.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/dilated-cardiomyopathy"
      },
      {
        "slug": "long-qt-syndrome",
        "name": "Síndrome do QT Longo",
        "diseases": [
          {
            "mondoId": "MONDO:0002442",
            "name": "Síndrome do QT Longo",
            "genes": 10,
            "inheritance": null,
            "description": "Uma perturbação da repolarização cardíaca caracterizada por um intervalo QT prolongado e risco de arritmias ventriculares perigosas, como a torsade de pointes.",
            "management": "Betabloqueantes, colocação de DAI, restrição de atividade, aconselhamento genético",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/long-qt-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-p-wave",
        "name": "Abnormal P wave",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-p-wave"
      },
      {
        "slug": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-heart-morphology"
      },
      {
        "slug": "absent-p-wave",
        "name": "Absent P wave",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/absent-p-wave"
      },
      {
        "slug": "apneic-episodes-in-infancy",
        "name": "Apneic episodes in infancy",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apneic-episodes-in-infancy"
      },
      {
        "slug": "atrial-flutter",
        "name": "Atrial flutter",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-flutter"
      },
      {
        "slug": "atrial-standstill",
        "name": "Atrial standstill",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atrial-standstill"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "bundle-branch-block",
        "name": "Bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bundle-branch-block"
      },
      {
        "slug": "cardiac-conduction-abnormality",
        "name": "Cardiac conduction abnormality",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cardiac-conduction-abnormality"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "complete-heart-block-with-broad-qrs-complexes",
        "name": "Complete heart block with broad QRS complexes",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/complete-heart-block-with-broad-qrs-complexes"
      },
      {
        "slug": "complete-right-bundle-branch-block",
        "name": "Complete right bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "aphasia",
        "name": "Difficulty finding words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aphasia"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "premature-ventricular-contraction",
        "name": "Extra heart beat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/premature-ventricular-contraction"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "first-degree-atrioventricular-block",
        "name": "First degree atrioventricular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/first-degree-atrioventricular-block"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "heart-block",
        "name": "Heart block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/heart-block"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "increased-circulating-troponin-t-concentration",
        "name": "Increased circulating troponin T concentration",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-troponin-t-concentration"
      },
      {
        "slug": "atrioventricular-block",
        "name": "Interruption of electrical communication between upper and lower chambers of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/atrioventricular-block"
      },
      {
        "slug": "ischemic-stroke",
        "name": "Ischemic stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ischemic-stroke"
      },
      {
        "slug": "left-anterior-fascicular-block",
        "name": "Left anterior fascicular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-anterior-fascicular-block"
      },
      {
        "slug": "left-atrial-enlargement",
        "name": "Left atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/left-atrial-enlargement"
      },
      {
        "slug": "left-bundle-branch-block",
        "name": "Left bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/left-bundle-branch-block"
      },
      {
        "slug": "left-posterior-fascicular-block",
        "name": "Left posterior fascicular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-posterior-fascicular-block"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "left-ventricular-noncompaction",
        "name": "Left ventricular noncompaction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-noncompaction"
      },
      {
        "slug": "left-ventricular-systolic-dysfunction",
        "name": "Left ventricular systolic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction"
      },
      {
        "slug": "lipoatrophy",
        "name": "Loss of fat tissue in localized area",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lipoatrophy"
      },
      {
        "slug": "malignant-hyperthermia",
        "name": "Malignant hyperthermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/malignant-hyperthermia"
      },
      {
        "slug": "mobitz-i-atrioventricular-block",
        "name": "Mobitz I atrioventricular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mobitz-i-atrioventricular-block"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "slug": "orthopnea",
        "name": "Orthopnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthopnea"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "hemiplegia",
        "name": "Paralysis on one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiplegia"
      },
      {
        "slug": "paroxysmal-atrial-fibrillation",
        "name": "Paroxysmal atrial fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-atrial-fibrillation"
      },
      {
        "slug": "paroxysmal-ventricular-tachycardia",
        "name": "Paroxysmal ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paroxysmal-ventricular-tachycardia"
      },
      {
        "slug": "permanent-atrial-fibrillation",
        "name": "Permanent atrial fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/permanent-atrial-fibrillation"
      },
      {
        "slug": "postexertional-symptom-exacerbation",
        "name": "Postexertional symptom exacerbation",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postexertional-symptom-exacerbation"
      },
      {
        "slug": "premature-atrial-contractions",
        "name": "Premature atrial contractions",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/premature-atrial-contractions"
      },
      {
        "slug": "prolonged-pr-interval",
        "name": "Prolonged PR interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-pr-interval"
      },
      {
        "slug": "prolonged-qt-interval",
        "name": "Prolonged QT interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/prolonged-qt-interval"
      },
      {
        "slug": "prolonged-qtc-interval",
        "name": "Prolonged QTc interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-qtc-interval"
      },
      {
        "slug": "atrial-fibrillation",
        "name": "Quivering upper heart chambers resulting in irregular heartbeat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-fibrillation"
      },
      {
        "slug": "reduced-left-ventricular-ejection-fraction",
        "name": "Reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "reduced-systolic-function",
        "name": "Reduced systolic function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/reduced-systolic-function"
      },
      {
        "slug": "right-ventricular-dilatation",
        "name": "Right ventricular dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/right-ventricular-dilatation"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "sick-sinus-syndrome",
        "name": "Sick sinus syndrome",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sick-sinus-syndrome"
      },
      {
        "slug": "sinus-bradycardia",
        "name": "Sinus bradycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/sinus-bradycardia"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "st-segment-elevation",
        "name": "ST segment elevation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/st-segment-elevation"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      },
      {
        "slug": "sudden-death",
        "name": "Sudden death",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/sudden-death"
      },
      {
        "slug": "supraventricular-tachycardia",
        "name": "Supraventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supraventricular-tachycardia"
      },
      {
        "slug": "supraventricular-tachycardia-with-an-accessory-connection-mediated-pathway",
        "name": "Supraventricular tachycardia with an accessory connection mediated pathway",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supraventricular-tachycardia-with-an-accessory-connection-mediated-pathway"
      },
      {
        "slug": "thromboembolic-stroke",
        "name": "Thromboembolic stroke",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolic-stroke"
      },
      {
        "slug": "thromboembolism",
        "name": "Thromboembolism",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolism"
      },
      {
        "slug": "torsade-de-pointes",
        "name": "Torsade de pointes",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/torsade-de-pointes"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      },
      {
        "slug": "trifascicular-block",
        "name": "Trifascicular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/trifascicular-block"
      },
      {
        "slug": "ventricular-arrhythmia",
        "name": "Ventricular arrhythmia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventricular-arrhythmia"
      },
      {
        "slug": "ventricular-escape-rhythm",
        "name": "Ventricular escape rhythm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ventricular-escape-rhythm"
      },
      {
        "slug": "ventricular-fibrillation",
        "name": "Ventricular fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-fibrillation"
      },
      {
        "slug": "ventricular-flutter",
        "name": "Ventricular flutter",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventricular-flutter"
      },
      {
        "slug": "ventricular-tachycardia",
        "name": "Ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventricular-tachycardia"
      }
    ],
    "related": [
      {
        "slug": "abcc9",
        "symbol": "ABCC9",
        "name": "ATP binding cassette subfamily C member 9",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/abcc9"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/actc1"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "name": "BAG cochaperone 3",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/bag3"
      },
      {
        "slug": "bag5",
        "symbol": "BAG5",
        "name": "BAG cochaperone 5",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/bag5"
      },
      {
        "slug": "cacna1c",
        "symbol": "CACNA1C",
        "name": "calcium voltage-gated channel subunit alpha1 C",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/cacna1c"
      },
      {
        "slug": "calm1",
        "symbol": "CALM1",
        "name": "calmodulin 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/calm1"
      },
      {
        "slug": "calm2",
        "symbol": "CALM2",
        "name": "calmodulin 2",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/calm2"
      },
      {
        "slug": "calm3",
        "symbol": "CALM3",
        "name": "calmodulin 3",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/calm3"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "name": "desmin",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/des"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "name": "dystrophin",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dmd"
      },
      {
        "slug": "dolk",
        "symbol": "DOLK",
        "name": "dolichol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dolk"
      },
      {
        "slug": "emd",
        "symbol": "EMD",
        "name": "emerin",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/emd"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 47,
    "url": "https://dantelabs.com/genes/scn5a/variants",
    "items": [
      {
        "slug": "a997s",
        "name": "A997S",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2989G>T",
        "position": 38581170,
        "grch37Position": 38622661,
        "part": {
          "kind": "exon",
          "number": 17
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/a997s"
      },
      {
        "slug": "a1427s",
        "name": "A1427S",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4279G>T",
        "position": 38557248,
        "grch37Position": 38598739,
        "part": {
          "kind": "exon",
          "number": 24
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/a1427s"
      },
      {
        "slug": "c-611plus1g-a",
        "name": "c.611+1G>A",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 38620842,
        "grch37Position": 38662333,
        "part": {
          "kind": "intron",
          "number": 5
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/c-611plus1g-a"
      },
      {
        "slug": "c-935-3c-g",
        "name": "c.935-3C>G",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 38608217,
        "grch37Position": 38649708,
        "part": {
          "kind": "intron",
          "number": 7
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/c-935-3c-g"
      },
      {
        "slug": "c-1140plus1g-a",
        "name": "c.1140+1G>A",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 38606668,
        "grch37Position": 38648159,
        "part": {
          "kind": "intron",
          "number": 9
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/c-1140plus1g-a"
      },
      {
        "slug": "c-1890g-a",
        "name": "c.1890G>A",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 38603712,
        "grch37Position": 38645203,
        "part": {
          "kind": "exon",
          "number": 12
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/c-1890g-a"
      },
      {
        "slug": "c-4242plus1g-c",
        "name": "c.4242+1G>C",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 38560146,
        "grch37Position": 38601637,
        "part": {
          "kind": "intron",
          "number": 23
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/c-4242plus1g-c"
      },
      {
        "slug": "c-4434plus5g-a",
        "name": "c.4434+5G>A",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 38556436,
        "grch37Position": 38597927,
        "part": {
          "kind": "intron",
          "number": 25
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/c-4434plus5g-a"
      },
      {
        "slug": "d356n",
        "name": "D356N",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.1066G>A",
        "position": 38606743,
        "grch37Position": 38648234,
        "part": {
          "kind": "exon",
          "number": 9
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/d356n"
      },
      {
        "slug": "d1274n",
        "name": "D1274N",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.3820G>A",
        "position": 38566426,
        "grch37Position": 38607917,
        "part": {
          "kind": "exon",
          "number": 21
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/d1274n"
      },
      {
        "slug": "d1594h",
        "name": "D1594H",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4780G>C",
        "position": 38554309,
        "grch37Position": 38595800,
        "part": {
          "kind": "exon",
          "number": 27
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/d1594h"
      },
      {
        "slug": "e161k",
        "name": "E161K",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.481G>A",
        "position": 38622401,
        "grch37Position": 38663892,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/e161k"
      },
      {
        "slug": "e1783k",
        "name": "E1783K",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.5347G>A",
        "position": 38551022,
        "grch37Position": 38592513,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/e1783k"
      },
      {
        "slug": "f1616del",
        "name": "F1616del",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4847_4849del",
        "position": 38551519,
        "grch37Position": 38593010,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/f1616del"
      },
      {
        "slug": "g1318v",
        "name": "G1318V",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.3953G>T",
        "position": 38562422,
        "grch37Position": 38603913,
        "part": {
          "kind": "exon",
          "number": 22
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/g1318v"
      },
      {
        "slug": "g1742r",
        "name": "G1742R",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.5224G>A",
        "position": 38551145,
        "grch37Position": 38592636,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/g1742r"
      },
      {
        "slug": "i1767v",
        "name": "I1767V",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.5299A>G",
        "position": 38551070,
        "grch37Position": 38592561,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/i1767v"
      },
      {
        "slug": "l1500v",
        "name": "L1500V",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4498C>G",
        "position": 38555697,
        "grch37Position": 38597188,
        "part": {
          "kind": "exon",
          "number": 26
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/l1500v"
      },
      {
        "slug": "m1874dup",
        "name": "M1874dup",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.5620_5622dup",
        "position": 38550746,
        "grch37Position": 38592237,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/m1874dup"
      },
      {
        "slug": "n1379del",
        "name": "N1379del",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4137_4139del",
        "position": 38560249,
        "grch37Position": 38601740,
        "part": {
          "kind": "exon",
          "number": 23
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/n1379del"
      },
      {
        "slug": "p1505s",
        "name": "P1505S",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4513C>T",
        "position": 38555682,
        "grch37Position": 38597173,
        "part": {
          "kind": "exon",
          "number": 26
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/p1505s"
      },
      {
        "slug": "q646rfs5",
        "name": "Q646Rfs*5",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.1936del",
        "position": 38599004,
        "grch37Position": 38640495,
        "part": {
          "kind": "exon",
          "number": 13
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/q646rfs5"
      },
      {
        "slug": "r43x",
        "name": "R43X",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.127C>T",
        "position": 38633181,
        "grch37Position": 38674672,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r43x"
      },
      {
        "slug": "r104w",
        "name": "R104W",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.310C>T",
        "position": 38630393,
        "grch37Position": 38671884,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r104w"
      },
      {
        "slug": "r121w",
        "name": "R121W",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.361C>T",
        "position": 38630342,
        "grch37Position": 38671833,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r121w"
      },
      {
        "slug": "r219c",
        "name": "R219C",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.655C>T",
        "position": 38613791,
        "grch37Position": 38655282,
        "part": {
          "kind": "exon",
          "number": 6
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r219c"
      },
      {
        "slug": "r222q",
        "name": "R222Q",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.665G>A",
        "position": 38613781,
        "grch37Position": 38655272,
        "part": {
          "kind": "exon",
          "number": 6
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r222q"
      },
      {
        "slug": "r222x",
        "name": "R222X",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.664C>T",
        "position": 38613782,
        "grch37Position": 38655273,
        "part": {
          "kind": "exon",
          "number": 6
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r222x"
      },
      {
        "slug": "r225q",
        "name": "R225Q",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.674G>A",
        "position": 38613772,
        "grch37Position": 38655263,
        "part": {
          "kind": "exon",
          "number": 6
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r225q"
      },
      {
        "slug": "r225w",
        "name": "R225W",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.673C>T",
        "position": 38613773,
        "grch37Position": 38655264,
        "part": {
          "kind": "exon",
          "number": 6
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r225w"
      },
      {
        "slug": "r367h",
        "name": "R367H",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.1100G>A",
        "position": 38606709,
        "grch37Position": 38648200,
        "part": {
          "kind": "exon",
          "number": 9
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r367h"
      },
      {
        "slug": "r376h",
        "name": "R376H",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.1127G>A",
        "position": 38606682,
        "grch37Position": 38648173,
        "part": {
          "kind": "exon",
          "number": 9
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r376h"
      },
      {
        "slug": "r535x",
        "name": "R535X",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.1603C>T",
        "position": 38603999,
        "grch37Position": 38645490,
        "part": {
          "kind": "exon",
          "number": 12
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r535x"
      },
      {
        "slug": "r808c",
        "name": "R808C",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2422C>T",
        "position": 38587414,
        "grch37Position": 38628905,
        "part": {
          "kind": "exon",
          "number": 15
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r808c"
      },
      {
        "slug": "r814q",
        "name": "R814Q",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2441G>A",
        "position": 38586037,
        "grch37Position": 38627528,
        "part": {
          "kind": "exon",
          "number": 16
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r814q"
      },
      {
        "slug": "r893c",
        "name": "R893C",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2677C>T",
        "position": 38585801,
        "grch37Position": 38627292,
        "part": {
          "kind": "exon",
          "number": 16
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r893c"
      },
      {
        "slug": "r893h",
        "name": "R893H",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2678G>A",
        "position": 38585800,
        "grch37Position": 38627291,
        "part": {
          "kind": "exon",
          "number": 16
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r893h"
      },
      {
        "slug": "r1622x",
        "name": "R1622X",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.4864C>T",
        "position": 38551505,
        "grch37Position": 38592996,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r1622x"
      },
      {
        "slug": "r1625h",
        "name": "R1625H",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4874G>A",
        "position": 38551495,
        "grch37Position": 38592986,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r1625h"
      },
      {
        "slug": "r1631h",
        "name": "R1631H",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4892G>A",
        "position": 38551477,
        "grch37Position": 38592968,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r1631h"
      },
      {
        "slug": "r1643h",
        "name": "R1643H",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.4928G>A",
        "position": 38551441,
        "grch37Position": 38592932,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/r1643h"
      },
      {
        "slug": "s910l",
        "name": "S910L",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2729C>T",
        "position": 38585749,
        "grch37Position": 38627240,
        "part": {
          "kind": "exon",
          "number": 16
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/s910l"
      },
      {
        "slug": "s1709l",
        "name": "S1709L",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.5126C>T",
        "position": 38551243,
        "grch37Position": 38592734,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/s1709l"
      },
      {
        "slug": "t1619m",
        "name": "T1619M",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4856C>T",
        "position": 38551513,
        "grch37Position": 38593004,
        "part": {
          "kind": "exon",
          "number": 28
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/t1619m"
      },
      {
        "slug": "v411m",
        "name": "V411M",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.1231G>A",
        "position": 38606058,
        "grch37Position": 38647549,
        "part": {
          "kind": "exon",
          "number": 10
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/v411m"
      },
      {
        "slug": "v845cfs2",
        "name": "V845Cfs*2",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2533del",
        "position": 38585944,
        "grch37Position": 38627435,
        "part": {
          "kind": "exon",
          "number": 16
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/v845cfs2"
      },
      {
        "slug": "w1590x",
        "name": "W1590X",
        "commonName": null,
        "symbol": "SCN5A",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.4769G>A",
        "position": 38554320,
        "grch37Position": 38595811,
        "part": {
          "kind": "exon",
          "number": 27
        },
        "url": "https://dantelabs.com/genes/scn5a/variants/w1590x"
      }
    ]
  }
}