{
  "url": "https://dantelabs.com/fr/genes/mlh1",
  "gene": {
    "slug": "mlh1",
    "symbol": "MLH1",
    "name": "mutL homolog 1",
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    "summary": null,
    "location": "3p22.2",
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    "ensemblId": "ENSG00000076242",
    "entrezId": 4292,
    "omim": [
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    "uniprot": [
      "P40692"
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      "release": "v1.5",
      "chrom": "3",
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      "strand": "+",
      "ensemblTranscript": "ENST00000231790.8",
      "refseqTranscript": "NM_000249.4",
      "ensemblProtein": "ENSP00000231790.3",
      "refseqProtein": "NP_000240.1",
      "exons": [
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      ],
      "cds": {
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        "end": 37050653
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
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      "end": 37107380,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 36522182,
      "end": 37522181,
      "genes": [
        {
          "symbol": "STAC",
          "ensemblId": "ENSG00000144681",
          "biotype": "protein_coding",
          "start": 36380321,
          "end": 36548045,
          "strand": "+",
          "slug": "stac"
        },
        {
          "symbol": "DCLK3",
          "ensemblId": "ENSG00000163673",
          "biotype": "protein_coding",
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          "end": 36764553,
          "strand": "-",
          "slug": "dclk3"
        },
        {
          "symbol": "TRANK1",
          "ensemblId": "ENSG00000168016",
          "biotype": "protein_coding",
          "start": 36826095,
          "end": 36945128,
          "strand": "-",
          "slug": "trank1"
        },
        {
          "symbol": "EPM2AIP1",
          "ensemblId": "ENSG00000178567",
          "biotype": "protein_coding",
          "start": 36985043,
          "end": 36993131,
          "strand": "-",
          "slug": "epm2aip1"
        },
        {
          "symbol": "LRRFIP2",
          "ensemblId": "ENSG00000093167",
          "biotype": "protein_coding",
          "start": 37049134,
          "end": 37183689,
          "strand": "-",
          "slug": "lrrfip2"
        },
        {
          "symbol": "GOLGA4",
          "ensemblId": "ENSG00000144674",
          "biotype": "protein_coding",
          "start": 37243184,
          "end": 37366879,
          "strand": "+",
          "slug": "golga4"
        },
        {
          "symbol": "ITGA9",
          "ensemblId": "ENSG00000144668",
          "biotype": "protein_coding",
          "start": 37452090,
          "end": 37823622,
          "strand": "+",
          "slug": "itga9"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dna-repair-disease",
        "name": "Maladie liée à la réparation de l'ADN",
        "diseases": [
          {
            "mondoId": "MONDO:0021190",
            "name": "Maladie liée à la réparation de l'ADN",
            "genes": 43,
            "inheritance": "autosomal-recessive",
            "description": "Une maladie causée par une altération des mécanismes de réparation de l'ADN.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 9
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/dna-repair-disease"
      },
      {
        "slug": "lynch-syndrome",
        "name": "Syndrome de Lynch",
        "diseases": [
          {
            "mondoId": "MONDO:0008018",
            "name": "Syndrome de Muir-Torre",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "Une forme du syndrome de Lynch, généralement causée par des variants de MSH2 ou MLH1, au cours de laquelle des tumeurs sébacées cutanées ou des kératoacanthomes surviennent en même temps que des cancers internes.",
            "management": "Surveillance du syndrome de Lynch associée à un examen cutané régulier.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0005835",
            "name": "Syndrome de Lynch",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "Syndrome de cancer colorectal héréditaire sans polypose causé par des anomalies germinales de la réparation des mésappariements de l'ADN, caractérisé par la survenue précoce de cancers colorectaux, de l'endomètre et d'autres types de tumeurs.",
            "management": "Surveillance renforcée par coloscopie, chimioprévention par aspirine, inhibiteurs de points de contrôle immunitaire pour les tumeurs MSI-high, dépistage en cascade, chirurgie gynécologique de réduction des risques",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/lynch-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "adenocarcinoma-of-the-colon",
        "name": "Adenocarcinoma of the colon",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/adenocarcinoma-of-the-colon"
      },
      {
        "slug": "adenocarcinoma-of-the-small-intestine",
        "name": "Adenocarcinoma of the small intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/adenocarcinoma-of-the-small-intestine"
      },
      {
        "slug": "adenoma-sebaceum",
        "name": "Adenoma sebaceum",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/adenoma-sebaceum"
      },
      {
        "slug": "adenomatous-colonic-polyposis",
        "name": "Adenomatous colonic polyposis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adenomatous-colonic-polyposis"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "amaurosis-fugax",
        "name": "Amaurosis fugax",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amaurosis-fugax"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "astrocytoma",
        "name": "Astrocytoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/astrocytoma"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "axillary-freckling",
        "name": "Axillary freckling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axillary-freckling"
      },
      {
        "slug": "basal-cell-carcinoma",
        "name": "Basal cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/basal-cell-carcinoma"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "benign-genitourinary-tract-neoplasm",
        "name": "Benign genitourinary tract neoplasm",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/benign-genitourinary-tract-neoplasm"
      },
      {
        "slug": "benign-neoplasm-of-the-central-nervous-system",
        "name": "Benign neoplasm of the central nervous system",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/benign-neoplasm-of-the-central-nervous-system"
      },
      {
        "slug": "leukemia",
        "name": "Blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/leukemia"
      },
      {
        "slug": "hematological-neoplasm",
        "name": "Blood tumor",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hematological-neoplasm"
      },
      {
        "slug": "breast-carcinoma",
        "name": "Breast cancer",
        "systems": [
          "abnormality-of-the-breast",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/breast-carcinoma"
      },
      {
        "slug": "neuroblastoma",
        "name": "Cancer of early nerve cells",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neuroblastoma"
      },
      {
        "slug": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "salivary-gland-neoplasm",
        "name": "Cancer of salivary gland",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/salivary-gland-neoplasm"
      },
      {
        "slug": "neoplasm-of-the-pancreas",
        "name": "Cancer of the pancreas",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas"
      },
      {
        "slug": "cardiac-diverticulum",
        "name": "Cardiac diverticulum",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiac-diverticulum"
      },
      {
        "slug": "colon-cancer",
        "name": "Colon cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/colon-cancer"
      },
      {
        "slug": "colonic-diverticula",
        "name": "Colonic diverticula",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/colonic-diverticula"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "disturbed-sensory-perception",
        "name": "Disturbed sensory perception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/disturbed-sensory-perception"
      },
      {
        "slug": "duodenal-adenocarcinoma",
        "name": "Duodenal adenocarcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/duodenal-adenocarcinoma"
      },
      {
        "slug": "dysgraphia",
        "name": "Dysgraphia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysgraphia"
      },
      {
        "slug": "endometrial-carcinoma",
        "name": "Endometrial carcinoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/endometrial-carcinoma"
      },
      {
        "slug": "ependymoma",
        "name": "Ependymoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/ependymoma"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "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": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "glioblastoma-multiforme",
        "name": "Glioblastoma multiforme",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glioblastoma-multiforme"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "intestinal-polyposis",
        "name": "Growths in inner lining of intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intestinal-polyposis"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "hereditary-nonpolyposis-colorectal-carcinoma",
        "name": "Hereditary nonpolyposis colorectal carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/hereditary-nonpolyposis-colorectal-carcinoma"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "renal-neoplasm",
        "name": "Kidney cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-neoplasm"
      },
      {
        "slug": "laryngeal-carcinoma",
        "name": "Laryngeal carcinoma",
        "systems": [
          "abnormality-of-the-respiratory-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/laryngeal-carcinoma"
      },
      {
        "slug": "neoplasm-of-the-liver",
        "name": "Liver cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-liver"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "malignant-genitourinary-tract-tumor",
        "name": "Malignant genitourinary tract tumor",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malignant-genitourinary-tract-tumor"
      },
      {
        "slug": "medulloblastoma",
        "name": "Medulloblastoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/medulloblastoma"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "multiple-cafe-au-lait-spots",
        "name": "Multiple birthmarks",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "neoplasm-of-the-thyroid-gland",
        "name": "Neoplasm of the thyroid gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-thyroid-gland"
      },
      {
        "slug": "benign-gastrointestinal-tract-tumors",
        "name": "Non-cancerous GI tumors",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/benign-gastrointestinal-tract-tumors"
      },
      {
        "slug": "non-hodgkin-lymphoma",
        "name": "Non-Hodgkin lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/non-hodgkin-lymphoma"
      },
      {
        "slug": "pituitary-adenoma",
        "name": "Noncancerous tumor in pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pituitary-adenoma"
      },
      {
        "slug": "oligodendroglioma",
        "name": "Oligodendroglioma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligodendroglioma"
      },
      {
        "slug": "ovarian-neoplasm",
        "name": "Ovarian cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ovarian-neoplasm"
      },
      {
        "slug": "pancreatic-adenocarcinoma",
        "name": "Pancreatic adenocarcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-adenocarcinoma"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "visual-field-defect",
        "name": "Partial loss of field of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-field-defect"
      },
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "pleomorphic-xanthoastrocytoma",
        "name": "Pleomorphic xanthoastrocytoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pleomorphic-xanthoastrocytoma"
      },
      {
        "slug": "plexiform-neurofibroma",
        "name": "Plexiform neurofibroma",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/plexiform-neurofibroma"
      },
      {
        "slug": "neoplasm-of-the-rectum",
        "name": "Rectal tumor",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-rectum"
      },
      {
        "slug": "rhabdomyosarcoma",
        "name": "Rhabdomyosarcoma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/rhabdomyosarcoma"
      },
      {
        "slug": "increased-intracranial-pressure",
        "name": "Rise in pressure inside skull",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-intracranial-pressure"
      },
      {
        "slug": "sebaceous-gland-carcinoma",
        "name": "Sebaceous gland carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sebaceous-gland-carcinoma"
      },
      {
        "slug": "neoplasm-of-the-skeletal-system",
        "name": "Skeletal tumor",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skeletal-system"
      },
      {
        "slug": "neoplasm-of-the-skin",
        "name": "Skin cancer",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skin"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "neoplasm-of-the-stomach",
        "name": "Stomach tumor",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-stomach"
      },
      {
        "slug": "t-cell-lymphoma",
        "name": "T-cell lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/t-cell-lymphoma"
      },
      {
        "slug": "urinary-tract-neoplasm",
        "name": "Urinary tract neoplasm",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-tract-neoplasm"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "msh2",
        "symbol": "MSH2",
        "name": "mutS homolog 2",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/msh2"
      },
      {
        "slug": "msh6",
        "symbol": "MSH6",
        "name": "mutS homolog 6",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/msh6"
      },
      {
        "slug": "pms2",
        "symbol": "PMS2",
        "name": "PMS1 homolog 2, mismatch repair system component",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/pms2"
      },
      {
        "slug": "aptx",
        "symbol": "APTX",
        "name": "aprataxin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aptx"
      },
      {
        "slug": "brca1",
        "symbol": "BRCA1",
        "name": "BRCA1 DNA repair associated",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "name": "BRCA2 DNA repair associated",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "name": "BRCA1 interacting DNA helicase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/brip1"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/coa7"
      },
      {
        "slug": "dclre1c",
        "symbol": "DCLRE1C",
        "name": "DNA cross-link repair 1C",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dclre1c"
      },
      {
        "slug": "ddb2",
        "symbol": "DDB2",
        "name": "damage specific DNA binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ddb2"
      },
      {
        "slug": "epcam",
        "symbol": "EPCAM",
        "name": "epithelial cell adhesion molecule",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/epcam"
      },
      {
        "slug": "ercc1",
        "symbol": "ERCC1",
        "name": "ERCC excision repair 1, endonuclease non-catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ercc1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 616,
    "url": "https://dantelabs.com/genes/mlh1/variants",
    "items": [
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        "url": "https://dantelabs.com/genes/mlh1/variants/a21e"
      },
      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a21rfs15"
      },
      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a21v"
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        "url": "https://dantelabs.com/genes/mlh1/variants/a29g"
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      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a29lfs7"
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      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a111v"
      },
      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a125ifs15"
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      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a128p"
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        "url": "https://dantelabs.com/genes/mlh1/variants/a128qfs8"
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      {
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      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a249gfs58"
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      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a281v"
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      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a541dfs50"
      },
      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a589d"
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      {
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        "url": "https://dantelabs.com/genes/mlh1/variants/a589pfs2"
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      {
        "slug": "a608cfs2",
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        "commonName": null,
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        "url": "https://dantelabs.com/genes/mlh1/variants/a608cfs2"
      },
      {
        "slug": "a619lfs18",
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        "commonName": null,
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        "position": 37047640,
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        },
        "url": "https://dantelabs.com/genes/mlh1/variants/a619lfs18"
      },
      {
        "slug": "a619p",
        "name": "A619P",
        "commonName": null,
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        "position": 37047642,
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        "url": "https://dantelabs.com/genes/mlh1/variants/a619p"
      },
      {
        "slug": "a623qfs14",
        "name": "A623Qfs*14",
        "commonName": null,
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        "position": 37047651,
        "grch37Position": 37089142,
        "part": {
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          "number": 16
        },
        "url": "https://dantelabs.com/genes/mlh1/variants/a623qfs14"
      },
      {
        "slug": "a681t",
        "name": "A681T",
        "commonName": null,
        "symbol": "MLH1",
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        "hgvsC": "c.2041G>A",
        "position": 37048955,
        "grch37Position": 37090446,
        "part": {
          "kind": "exon",
          "number": 18
        },
        "url": "https://dantelabs.com/genes/mlh1/variants/a681t"
      },
      {
        "slug": "c--384to207plus603del",
        "name": "c.-384_207+603del",
        "commonName": null,
        "symbol": "MLH1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 36993163,
        "grch37Position": 37034654,
        "part": null,
        "url": "https://dantelabs.com/genes/mlh1/variants/c--384to207plus603del"
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