{"gene_variant": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48:gene-variant:0", "xref": null, "source_gene_symbol": "BRAF", "nucleotide_change": "Not reported", "protein_change": "Not reported", "variant_label": "Not reported"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "c93e5a54-6cb1-434d-a287-f863e6ad8c48", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/c93e5a54-6cb1-434d-a287-f863e6ad8c48"}, "diagnosis": {"diagnosis_methods": ["Doctor suspected in utero", "Gene sequencing", "Imaging"]}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"gene_variant": {"id": "55e9d96a-33c4-4999-b7e2-57eda449cad0:gene-variant:0", "xref": null, "source_gene_symbol": "RIT1", "nucleotide_change": "c.107C>G", "protein_change": "p.Ala57Gly", "variant_label": "p.Ala57Gly"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "55e9d96a-33c4-4999-b7e2-57eda449cad0", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/55e9d96a-33c4-4999-b7e2-57eda449cad0"}, "diagnosis": {"diagnosis_methods": ["Doctor suspected in utero", "Gene sequencing", "Imaging", "Dysmorphic features postnatally including: high forehead, broad nasal bridge, down-slanting palpebral fissures, low-set ears, mild hypotonia and bilateral single transverse palmar crease"]}, "patient": {"sex": "Female", "age_group": "4 - 6 months", "ethnicity": null, "country_treated": "Denmark", "race": null}}]}
{"gene_variant": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53:gene-variant:0", "xref": null, "source_gene_symbol": "SOS1", "nucleotide_change": "c.1655G>C", "protein_change": "p.Arg552Thr", "variant_label": "p.Arg552Thr"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3a9c28be-346f-4a2e-a5fa-d2165317eb53", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3a9c28be-346f-4a2e-a5fa-d2165317eb53"}, "diagnosis": {"diagnosis_methods": ["Doctor suspected in utero", "Gene sequencing", "Imaging"]}, "patient": {"sex": "Male", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}
{"gene_variant": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54:gene-variant:0", "xref": null, "source_gene_symbol": "BRAF", "nucleotide_change": null, "protein_change": "p.D638E", "variant_label": "p.D638E"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "9efb2ba1-12a8-476b-ae90-ca657c5cdb54", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/9efb2ba1-12a8-476b-ae90-ca657c5cdb54"}, "diagnosis": {"diagnosis_methods": ["Gene sequencing", "Imaging"]}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": null, "country_treated": "Canada", "race": null}}]}
{"gene_variant": {"id": "7e937c08-1c12-4070-8844-ba936624e6ef:gene-variant:0", "xref": null, "source_gene_symbol": "HRAS", "nucleotide_change": "c.35G>A", "protein_change": "p.G12F", "variant_label": "p.G12F"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0009026", "xref": ["MONDO:0009026"], "name": "Costello syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "7e937c08-1c12-4070-8844-ba936624e6ef", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/7e937c08-1c12-4070-8844-ba936624e6ef"}, "diagnosis": {"diagnosis_methods": ["Doctor suspected in utero", "Gene sequencing"]}, "patient": {"sex": "Female", "age_group": "7 - 11 months", "ethnicity": "Hispanic/Latino", "country_treated": "United States", "race": ["Unknown"]}}]}
{"gene_variant": {"id": "a17f2489-685d-4878-a44a-80d28af170b6:gene-variant:0", "xref": null, "source_gene_symbol": "PTPN11", "nucleotide_change": "c.1391G>C", "protein_change": "p.Gly464Ala", "variant_label": "p.Gly464Ala"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0007893", "xref": ["MONDO:0007893"], "name": "Noonan syndrome with multiple lentigines"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "a17f2489-685d-4878-a44a-80d28af170b6", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/a17f2489-685d-4878-a44a-80d28af170b6"}, "diagnosis": {"diagnosis_methods": ["Gene sequencing", "Imaging"]}, "patient": {"sex": "Male", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"gene_variant": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107:gene-variant:0", "xref": null, "source_gene_symbol": "BRAF", "nucleotide_change": "c.1406G>A", "protein_change": "p.Gly469Glu", "variant_label": "p.Gly469Glu"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "eea4b243-b0b6-4c80-86ab-87251498a107", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/eea4b243-b0b6-4c80-86ab-87251498a107"}, "diagnosis": {"diagnosis_methods": ["Gene sequencing", "Imaging"]}, "patient": {"sex": "Female", "age_group": "21 - 30 years", "ethnicity": null, "country_treated": "France", "race": null}}]}
{"gene_variant": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b:gene-variant:0", "xref": null, "source_gene_symbol": "BRAF", "nucleotide_change": "c.1785T>G", "protein_change": "p.Phe595Leu", "variant_label": "p.Phe595Leu"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0015280", "xref": ["MONDO:0015280"], "name": "cardiofaciocutaneous syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "032af03c-721e-47ec-aa6b-eebd100c6b2b", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/032af03c-721e-47ec-aa6b-eebd100c6b2b"}, "diagnosis": {"diagnosis_methods": ["Gene sequencing", "Imaging"]}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Japan", "race": null}}]}
{"gene_variant": {"id": "1301dd3d-9cc2-4a40-a5b7-bd0cc0083968:gene-variant:0", "xref": null, "source_gene_symbol": "Syngap", "nucleotide_change": "C.1823_1824del", "protein_change": "p.Phe608Trpfs*9", "variant_label": "p.Phe608Trpfs*9"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "ORPHA:544254", "xref": ["Unknown:544254"], "name": "SYNGAP1-related developmental and epileptic encephalopathy"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "1301dd3d-9cc2-4a40-a5b7-bd0cc0083968", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/1301dd3d-9cc2-4a40-a5b7-bd0cc0083968"}, "diagnosis": {"diagnosis_methods": ["Gene sequencing"]}, "patient": {"sex": "Female", "age_group": "1 - 5 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["Black or African American", "White"]}}]}
{"gene_variant": {"id": "16397f81-5bc3-47e3-8135-82e11ca3ad44:gene-variant:0", "xref": null, "source_gene_symbol": "SYNGAP1", "nucleotide_change": "c.490 C>T", "protein_change": "p.R164X", "variant_label": "p.R164X"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "ORPHA:544254", "xref": ["Unknown:544254"], "name": "SYNGAP1-related developmental and epileptic encephalopathy"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "16397f81-5bc3-47e3-8135-82e11ca3ad44", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/16397f81-5bc3-47e3-8135-82e11ca3ad44"}, "diagnosis": {"diagnosis_methods": ["Gene sequencing"]}, "patient": {"sex": "Male", "age_group": "6 - 10 years", "ethnicity": "Not Hispanic/Latino", "country_treated": "United States", "race": ["White"]}}]}
{"gene_variant": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7:gene-variant:0", "xref": null, "source_gene_symbol": "RAF1", "nucleotide_change": "c.770C>T", "protein_change": "p.S257L", "variant_label": "p.S257L"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/e8fbb1bd-43a9-4b29-8b4d-1fdc179574c7"}, "diagnosis": {"diagnosis_methods": ["Gene sequencing", "Imaging"]}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": "Unknown", "country_treated": "United States", "race": ["Unknown"]}}]}
{"gene_variant": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf:gene-variant:0", "xref": null, "source_gene_symbol": "RAF1", "nucleotide_change": "c.770C>T", "protein_change": "p.Ser257Leu", "variant_label": "p.Ser257Leu"}, "predicate": {"id": "genetically_associated_with", "label": "genetically associated with"}, "condition": {"id": "MONDO:0018997", "xref": ["MONDO:0018997"], "name": "Noonan syndrome"}, "patient_count": 1, "case_report_count": 1, "evidence": [{"case_report": {"id": "3d83a833-ced8-4c7d-ad9b-c9863273e0bf", "url": "https://cure.ncats.io/explore/rasopathies/case-reports/case-details/3d83a833-ced8-4c7d-ad9b-c9863273e0bf"}, "diagnosis": {"diagnosis_methods": ["Doctor suspected in utero", "Gene sequencing", "Imaging"]}, "patient": {"sex": "Female", "age_group": "< 1 month", "ethnicity": null, "country_treated": "Italy", "race": null}}]}