{
  "url": "https://dantelabs.com/fr/genes/cyba",
  "gene": {
    "slug": "cyba",
    "symbol": "CYBA",
    "name": "cytochrome b-245 alpha chain",
    "hgnc": "HGNC:2577",
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    "location": "16q24.2",
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      "p22phox"
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    "previousSymbols": [],
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    "uniprot": [
      "P13498"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
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      "end": 88651053,
      "strand": "-",
      "ensemblTranscript": "ENST00000261623.8",
      "refseqTranscript": "NM_000101.4",
      "ensemblProtein": "ENSP00000261623.3",
      "refseqProtein": "NP_000092.2",
      "exons": [
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      ],
      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
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      "end": 88717560,
      "strand": "-"
    },
    "neighbourhood": {
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        {
          "symbol": "ZNF469",
          "ensemblId": "ENSG00000225614",
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          "end": 88440757,
          "strand": "+",
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        {
          "symbol": "ZFPM1",
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        {
          "symbol": "ZC3H18",
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          "end": 88631966,
          "strand": "+",
          "slug": "zc3h18"
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        {
          "symbol": "IL17C",
          "ensemblId": "ENSG00000124391",
          "biotype": "protein_coding",
          "start": 88638571,
          "end": 88640468,
          "strand": "+",
          "slug": "il17c"
        },
        {
          "symbol": "MVD",
          "ensemblId": "ENSG00000167508",
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          "end": 88663166,
          "strand": "-",
          "slug": "mvd"
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        {
          "symbol": "SNAI3",
          "ensemblId": "ENSG00000185669",
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          "end": 88686513,
          "strand": "-",
          "slug": "snai3"
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        {
          "symbol": "RNF166",
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          "biotype": "protein_coding",
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          "end": 88706424,
          "strand": "-",
          "slug": "rnf166"
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        {
          "symbol": "CTU2",
          "ensemblId": "ENSG00000174177",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "PIEZO1",
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          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "CDT1",
          "ensemblId": "ENSG00000167513",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "APRT",
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        {
          "symbol": "GALNS",
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        {
          "symbol": "TRAPPC2L",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "trappc2l"
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        {
          "symbol": "PABPN1L",
          "ensemblId": "ENSG00000205022",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "pabpn1l"
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        {
          "symbol": "CBFA2T3",
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          "start": 88874858,
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          "strand": "-",
          "slug": "cbfa2t3"
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        {
          "symbol": "ACSF3",
          "ensemblId": "ENSG00000176715",
          "biotype": "protein_coding",
          "start": 89088375,
          "end": 89164121,
          "strand": "+",
          "slug": "acsf3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "chronic-granulomatous-disease",
        "name": "Granulomatose septique chronique",
        "diseases": [
          {
            "mondoId": "MONDO:0009308",
            "name": "Granulomatose septique chronique autosomique récessive, cytochrome b-négative",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": null,
            "management": null,
            "evidence": {
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                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
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            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018305",
            "name": "Granulomatose septique chronique",
            "genes": 6,
            "inheritance": null,
            "description": "La granulomatose septique chronique (GSC) est un déficit immunitaire primitif rare, touchant principalement les phagocytes, qui se caractérise par une susceptibilité accrue aux infections bactériennes et fongiques sévères et récurrentes, ainsi que par la formation de granulomes.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          },
          {
            "mondoId": "MONDO:0005910",
            "name": "Dysfonction bactéricide des phagocytes",
            "genes": 6,
            "inheritance": null,
            "description": "Troubles au cours desquels les cellules phagocytaires ne peuvent pas éliminer les bactéries ingérées ; caractérisés par des infections récurrentes fréquentes accompagnées de la formation de granulomes.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/chronic-granulomatous-disease"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Autres erreurs innées de l'immunité",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Erreur innée de l'immunité",
            "genes": 114,
            "inheritance": null,
            "description": "Maladies héréditaires du système immunitaire causées par des modifications de gènes uniques, qui affectent la manière dont l'organisme combat les infections ou régule l'inflammation.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "tracheoesophageal-fistula",
        "name": "Abnormal connection between trachea and esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tracheoesophageal-fistula"
      },
      {
        "slug": "abnormality-of-neutrophils",
        "name": "Abnormality of neutrophils",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neutrophils"
      },
      {
        "slug": "absence-of-bactericidal-oxidative-respiratory-burst-in-phagocytes",
        "name": "Absence of bactericidal oxidative respiratory burst in phagocytes",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/absence-of-bactericidal-oxidative-respiratory-burst-in-phagocytes"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "chronic-pulmonary-obstruction",
        "name": "Chronic pulmonary obstruction",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chronic-pulmonary-obstruction"
      },
      {
        "slug": "decreased-activity-of-nadph-oxidase",
        "name": "Decreased activity of NADPH oxidase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-activity-of-nadph-oxidase"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-neutrophil-oxidative-burst",
        "name": "Decreased neutrophil oxidative burst",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-neutrophil-oxidative-burst"
      },
      {
        "slug": "deficiency-or-absence-of-cytochrome-b-245",
        "name": "Deficiency or absence of cytochrome b(-245)",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/deficiency-or-absence-of-cytochrome-b-245"
      },
      {
        "slug": "discoid-lupus-rash",
        "name": "Discoid lupus rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/discoid-lupus-rash"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "granulomatosis",
        "name": "Granulomatosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/granulomatosis"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "gingivitis",
        "name": "Inflamed gums",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gingivitis"
      },
      {
        "slug": "lymphadenitis",
        "name": "Inflammation of the lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/lymphadenitis"
      },
      {
        "slug": "inflammatory-abnormality-of-the-eye",
        "name": "Inflammatory abnormality of the eye",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inflammatory-abnormality-of-the-eye"
      },
      {
        "slug": "liver-abscess",
        "name": "Liver abscess",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/liver-abscess"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "otitis-media",
        "name": "Middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/otitis-media"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "pyloric-stenosis",
        "name": "Pyloric stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pyloric-stenosis"
      },
      {
        "slug": "rectal-abscess",
        "name": "Rectal abscess",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/rectal-abscess"
      },
      {
        "slug": "recurrent-aspergillus-infection",
        "name": "Recurrent Aspergillus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-aspergillus-infection"
      },
      {
        "slug": "recurrent-bacterial-skin-infections",
        "name": "Recurrent bacterial skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/recurrent-bacterial-skin-infections"
      },
      {
        "slug": "recurrent-burkholderia-cepacia-infection",
        "name": "Recurrent Burkholderia cepacia infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-burkholderia-cepacia-infection"
      },
      {
        "slug": "recurrent-escherichia-coli-infection",
        "name": "Recurrent Escherichia coli infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-escherichia-coli-infection"
      },
      {
        "slug": "recurrent-klebsiella-infection",
        "name": "Recurrent Klebsiella infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-klebsiella-infection"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-serratia-infection",
        "name": "Recurrent Serratia infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-serratia-infection"
      },
      {
        "slug": "recurrent-staphylococcus-aureus-infection",
        "name": "Recurrent Staphylococcus aureus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-staphylococcus-aureus-infection"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "mediastinal-lymphadenopathy",
        "name": "Swollen lymph nodes in center of chest",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-thoracic-cavity"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mediastinal-lymphadenopathy"
      }
    ],
    "related": [
      {
        "slug": "cybb",
        "symbol": "CYBB",
        "name": "cytochrome b-245 beta chain",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/cybb"
      },
      {
        "slug": "cybc1",
        "symbol": "CYBC1",
        "name": "cytochrome b-245 chaperone 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/cybc1"
      },
      {
        "slug": "ncf1",
        "symbol": "NCF1",
        "name": "neutrophil cytosolic factor 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/ncf1"
      },
      {
        "slug": "ncf2",
        "symbol": "NCF2",
        "name": "neutrophil cytosolic factor 2",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/ncf2"
      },
      {
        "slug": "ncf4",
        "symbol": "NCF4",
        "name": "neutrophil cytosolic factor 4",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/ncf4"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/adar"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aicda"
      },
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap3b1"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/blnk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}