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A: The variant NC_000001.11:g.1806503A>G in gene GNB1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|LEUKEMIA,_CHRONIC_LYMPHOCYTIC,_SOMATIC|Dystonic_disorder|Hypothyroidism|Growth_delay|Upper_limb_hypertonia|Infantile_axial_hypotonia|Intellectual_disability|Cleft_palate|Myelodysplastic_syndrome|Acute_lymphoid_leukemia|Global_developmental_delay|Seizure|Hypotonia|Neurodevelopmental_Disability|Neurodevelopmental_disorder|Neurodevelopmental_abnormality|Expressive_language_delay|Failure_to_thrive|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Developmental_regression|Limb_hypertonia|Inability_to_walk|Strabismus|Nystagmus|Neurodevelopmental_delay|Intellectual_disability,_autosomal_dominant_42|Inborn_genetic_diseases|not_specified|Cerebral_palsy. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|Human_Phenotype_Ontology:HP:0000821,Human_Phenotype_Ontology:HP:0003222,Human_Phenotype_Ontology:HP:0008203,MONDO:MONDO:0005420,MedGen:C0020676|Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070|Human_Phenotype_Ontology:HP:0200049,MedGen:C4021898|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150,Orphanet:2014|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|.|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737|Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641|Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100|Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219|Human_Phenotype_Ontology:HP:0010842,Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476|Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830|Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391|Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046|Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379|Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738|Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1806503A>T (GNB1, 1:1806503 A>T)?
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A: The variant NC_000001.11:g.1806503A>T in gene GNB1 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_dominant_42|not_provided|Growth_delay|Limb_hypertonia|Global_developmental_delay|Failure_to_thrive|Hypotonia|Seizure|Floppy_infant|Multifocal_epileptiform_discharges|Cerebral_visual_impairment|Focal_impaired_awareness_seizure|Feeding_difficulties|Neurodevelopmental_Disability|Acute_lymphoid_leukemia. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070|Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834|Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219|Human_Phenotype_Ontology:HP:0000595,Human_Phenotype_Ontology:HP:0100704,MedGen:C4048268,Orphanet:447788|Human_Phenotype_Ontology:HP:0002278,Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834|Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466|.|Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1806509T>C (GNB1, 1:1806509 T>C)?
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A: The variant NC_000001.11:g.1806509T>C in gene GNB1 is classified as 'Pathogenic/Likely_pathogenic' for GNB1-related_disorder|Global_developmental_delay-neuro-ophthalmological_abnormalities-seizures-intellectual_disability_syndrome|Inborn_genetic_diseases|Intellectual_disability,_autosomal_dominant_42|Strabismus|Feeding_difficulties|Seizure|Hypotonia|Global_developmental_delay|Growth_delay|Floppy_infant|EEG_with_generalized_epileptiform_discharges|not_provided|Neurodevelopmental_Disability. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: .|MedGen:C5567482|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613|Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379|Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070|Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834|Human_Phenotype_Ontology:HP:0010842,Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476|MedGen:C3661900|.. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1806512C>A (GNB1, 1:1806512 C>A)?
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A: The variant NC_000001.11:g.1806512C>A in gene GNB1 is classified as 'Pathogenic' for not_provided|Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1806512C>T (GNB1, 1:1806512 C>T)?
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A: The variant NC_000001.11:g.1806512C>T in gene GNB1 is classified as 'Pathogenic/Likely_pathogenic' for Intellectual_disability|Inborn_genetic_diseases|Intellectual_disability,_autosomal_dominant_42|not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1806513C>A (GNB1, 1:1806513 C>A)?
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A: The variant NC_000001.11:g.1806513C>A in gene GNB1 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_dominant_42|Neurodevelopmental_delay. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613|Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1806513C>G (GNB1, 1:1806513 C>G)?
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A: The variant NC_000001.11:g.1806513C>G in gene GNB1 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1806513C>T (GNB1, 1:1806513 C>T)?
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A: The variant NC_000001.11:g.1806513C>T in gene GNB1 is classified as 'Pathogenic/Likely_pathogenic' for Intellectual_disability,_autosomal_dominant_42|Inborn_genetic_diseases|Autism_spectrum_disorder|Neurodevelopmental_Disability|Hypotonia|Seizure|Global_developmental_delay|not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106|.|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1806514A>C (GNB1, 1:1806514 A>C)?
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A: The variant NC_000001.11:g.1806514A>C in gene GNB1 is classified as 'Pathogenic/Likely_pathogenic' for Limb_hypertonia|Strabismus|Seizure|Failure_to_thrive|Focal_impaired_awareness_seizure|Global_developmental_delay|Neurodevelopmental_Disability|Hypotonia. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391|Human_Phenotype_Ontology:HP:0000486,MONDO:MONDO:0003432,MedGen:C0038379|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100|Human_Phenotype_Ontology:HP:0002278,Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|.|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1806514A>T (GNB1, 1:1806514 A>T)?
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A: The variant NC_000001.11:g.1806514A>T in gene GNB1 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1806515T>C (GNB1, 1:1806515 T>C)?
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A: The variant NC_000001.11:g.1806515T>C in gene GNB1 is classified as 'Pathogenic' for not_provided|Intellectual_disability,_autosomal_dominant_42|Neurodevelopmental_Disability|Hypotonia|Seizure|Intellectual_disability|Global_developmental_delay|Floppy_infant|Acute_lymphoid_leukemia. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613|.|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0002449,Human_Phenotype_Ontology:HP:0002523,Human_Phenotype_Ontology:HP:0008947,Human_Phenotype_Ontology:HP:0010572,MedGen:C1860834|Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1806516C>T (GNB1, 1:1806516 C>T)?
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A: The variant NC_000001.11:g.1806516C>T in gene GNB1 is classified as 'Pathogenic/Likely_pathogenic' for Intellectual_disability,_autosomal_dominant_42|not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1806525C>A (GNB1, 1:1806525 C>A)?
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A: The variant NC_000001.11:g.1806525C>A in gene GNB1 is classified as 'Pathogenic/Likely_pathogenic' for Intellectual_disability,_autosomal_dominant_42|not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1815771C>T (GNB1, 1:1815771 C>T)?
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A: The variant NC_000001.11:g.1815771C>T in gene GNB1 is classified as 'Pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001587: nonsense,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1815776C>A (GNB1, 1:1815776 C>A)?
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A: The variant NC_000001.11:g.1815776C>A in gene GNB1 is classified as 'Likely_pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1815789T>G (GNB1, 1:1815789 T>G)?
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A: The variant NC_000001.11:g.1815789T>G in gene GNB1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1815796G>C (GNB1, 1:1815796 G>C)?
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A: The variant NC_000001.11:g.1815796G>C in gene GNB1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1815801C>T (GNB1, 1:1815801 C>T)?
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A: The variant NC_000001.11:g.1815801C>T in gene GNB1 is classified as 'Likely_pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1817840AG[3] (GNB1, 1:1817838 TGA>T)?
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A: The variant NC_000001.11:g.1817840AG[3] in gene GNB1 is classified as 'Likely_pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1825399G>A (GNB1, 1:1825399 G>A)?
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A: The variant NC_000001.11:g.1825399G>A in gene GNB1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001587: nonsense,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1923783AG[3] (CFAP74, 1:1923782 A>AAG)?
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A: The variant NC_000001.11:g.1923783AG[3] in gene CFAP74 is classified as 'Likely_pathogenic' for Ciliary_dyskinesia,_primary,_49,_without_situs_inversus. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1923833C>G (CFAP74, 1:1923833 C>G)?
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A: The variant NC_000001.11:g.1923833C>G in gene CFAP74 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_49,_without_situs_inversus. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1927024C>T (CFAP74, 1:1927024 C>T)?
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A: The variant NC_000001.11:g.1927024C>T in gene CFAP74 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_49,_without_situs_inversus. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1930304A>G (CFAP74, 1:1930304 A>G)?
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A: The variant NC_000001.11:g.1930304A>G in gene CFAP74 is classified as 'Likely_pathogenic' for CFAP74-related_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: .. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1938942del (CFAP74, 1:1938941 CA>C)?
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A: The variant NC_000001.11:g.1938942del in gene CFAP74 is classified as 'Likely_pathogenic' for Ciliary_dyskinesia,_primary,_49,_without_situs_inversus. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1944365G>A (CFAP74, 1:1944365 G>A)?
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A: The variant NC_000001.11:g.1944365G>A in gene CFAP74 is classified as 'Likely_pathogenic' for CFAP74-related_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: .. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1960010_1960011del (CFAP74, 1:1960009 CAG>C)?
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A: The variant NC_000001.11:g.1960010_1960011del in gene CFAP74 is classified as 'Likely_pathogenic' for Ciliary_dyskinesia,_primary,_49,_without_situs_inversus. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1960024dup (CFAP74, 1:1960018 A>AG)?
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A: The variant NC_000001.11:g.1960024dup in gene CFAP74 is classified as 'Likely_pathogenic' for not_provided|Ciliary_dyskinesia,_primary,_49,_without_situs_inversus. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1970722C>T (CFAP74, 1:1970722 C>T)?
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A: The variant NC_000001.11:g.1970722C>T in gene CFAP74 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_49,_without_situs_inversus. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1970799del (CFAP74, 1:1970797 TG>T)?
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A: The variant NC_000001.11:g.1970799del in gene CFAP74 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_49,_without_situs_inversus. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1974047G>A (CFAP74, 1:1974047 G>A)?
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A: The variant NC_000001.11:g.1974047G>A in gene CFAP74 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_49,_without_situs_inversus. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0859353,MedGen:C5774291,OMIM:620197. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.2028236C>T (GABRD, 1:2028236 C>T)?
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A: The variant NC_000001.11:g.2028236C>T in gene GABRD is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2029189C>T (GABRD, 1:2029189 C>T)?
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A: The variant NC_000001.11:g.2029189C>T in gene GABRD is classified as 'Likely_pathogenic' for Idiopathic_generalized_epilepsy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2029197C>G (GABRD, 1:2029197 C>G)?
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A: The variant NC_000001.11:g.2029197C>G in gene GABRD is classified as 'Pathogenic' for Epilepsy,_idiopathic_generalized,_susceptibility_to,_10. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013103,MedGen:C2751603,OMIM:613060. Review status: criteria provided, single submitter.
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