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Q: What is the clinical significance of NC_000001.11:g.1535392G>C (TMEM240, 1:1535392 G>C)?
A: The variant NC_000001.11:g.1535392G>C in gene TMEM240 is classified as 'Pathogenic' for Spinocerebellar_ataxia_type_21. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011833,MedGen:C1843891,OMIM:607454,Orphanet:98773. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1535462A>T (TMEM240, 1:1535462 A>T)?
A: The variant NC_000001.11:g.1535462A>T in gene TMEM240 is classified as 'Likely_pathogenic' for Spinocerebellar_ataxia_type_21. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011833,MedGen:C1843891,OMIM:607454,Orphanet:98773. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1787341_1787343del (GNB1, 1:1787340 GATC>G)?
A: The variant NC_000001.11:g.1787341_1787343del in gene GNB1 is classified as 'Pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001820: inframe_indel. Variant type: Deletion. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1787378C>T (GNB1, 1:1787378 C>T)?
A: The variant NC_000001.11:g.1787378C>T in gene GNB1 is classified as 'Likely_pathogenic' for Bilateral_tonic-clonic_seizure\|Seizure\|Global_developmental_delay\|Hypotonia\|Intellectual_disability\|Neurodevelopmental_Disability\|Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475\|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\|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827\|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\|.\|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1787438C>A (GNB1, 1:1787438 C>A)?
A: The variant NC_000001.11:g.1787438C>A in gene GNB1 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1787439T>C (GNB1, 1:1787439 T>C)?
A: The variant NC_000001.11:g.1787439T>C in gene GNB1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1789052C>A (GNB1, 1:1789052 C>A)?
A: The variant NC_000001.11:g.1789052C>A in gene GNB1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1789053_1789054del (GNB1, 1:1789052 CCT>C)?
A: The variant NC_000001.11:g.1789053_1789054del in gene GNB1 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1789270C>A (GNB1, 1:1789270 C>A)?
A: The variant NC_000001.11:g.1789270C>A in gene GNB1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1790454G>A (GNB1, 1:1790454 G>A)?
A: The variant NC_000001.11:g.1790454G>A in gene GNB1 is classified as 'Pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1790462_1790463del (GNB1, 1:1790461 CCA>C)?
A: The variant NC_000001.11:g.1790462_1790463del in gene GNB1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1790598T>C (GNB1, 1:1790598 T>C)?
A: The variant NC_000001.11:g.1790598T>C in gene GNB1 is classified as 'Likely_pathogenic' for Intellectual_disability,_autosomal_dominant_42\|Autosomal_dominant_non-syndromic_intellectual_disability. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613\|MONDO:MONDO:0015802,MedGen:C5680502,Orphanet:178469. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1793246A>G (GNB1, 1:1793246 A>G)?
A: The variant NC_000001.11:g.1793246A>G in gene GNB1 is classified as 'Likely_pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1793283_1793284dup (GNB1, 1:1793282 C>CAT)?
A: The variant NC_000001.11:g.1793283_1793284dup in gene GNB1 is classified as 'Pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1804461C>T (GNB1, 1:1804461 C>T)?
A: The variant NC_000001.11:g.1804461C>T in gene GNB1 is classified as 'Pathogenic' for not_provided\|Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900\|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1804496T>C (GNB1, 1:1804496 T>C)?
A: The variant NC_000001.11:g.1804496T>C in gene GNB1 is classified as 'Pathogenic' for not_provided\|Intellectual_disability,_autosomal_dominant_42\|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900\|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613\|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1804497C>A (GNB1, 1:1804497 C>A)?
A: The variant NC_000001.11:g.1804497C>A in gene GNB1 is classified as 'Pathogenic' for Dystonic_disorder\|Atypical_behavior\|not_provided\|Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421\|Human_Phenotype_Ontology:HP:0000708,Human_Phenotype_Ontology:HP:0000715,Human_Phenotype_Ontology:HP:0002368,Human_Phenotype_Ontology:HP:0002456,MedGen:C0004941\|MedGen:C3661900\|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1804502C>A (GNB1, 1:1804502 C>A)?
A: The variant NC_000001.11:g.1804502C>A in gene GNB1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1804508C>T (GNB1, 1:1804508 C>T)?
A: The variant NC_000001.11:g.1804508C>T in gene GNB1 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1804527_1804555del (GNB1, 1:1804521 TCCCAGAAGGGGCATATGCACAGGTCATGA>T)?
A: The variant NC_000001.11:g.1804527_1804555del in gene GNB1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1804523C>T (GNB1, 1:1804523 C>T)?
A: The variant NC_000001.11:g.1804523C>T in gene GNB1 is classified as 'Likely_pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1804548T>C (GNB1, 1:1804548 T>C)?
A: The variant NC_000001.11:g.1804548T>C in gene GNB1 is classified as 'Pathogenic' for Neurodevelopmental_Disability\|Seizure\|Hypotonia\|Global_developmental_delay\|Intellectual_disability\|Multifocal_epileptiform_discharges\|EEG_with_generalized_epileptiform_discharges\|Bilateral_tonic-clonic_seizure\|Developmental_regression\|Focal_impaired_awareness_seizure\|Expressive_language_delay\|Intellectual_disability,_autosomal_dominant_42\|not_provided. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: .\|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: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:0010841,MedGen:C4021219\|Human_Phenotype_Ontology:HP:0010842,Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476\|Human_Phenotype_Ontology:HP:0001306,Human_Phenotype_Ontology:HP:0002069,Human_Phenotype_Ontology:HP:0002407,Human_Phenotype_Ontology:HP:0007252,MedGen:C0494475\|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:0002278,Human_Phenotype_Ontology:HP:0002384,MedGen:C0270834\|Human_Phenotype_Ontology:HP:0002474,Human_Phenotype_Ontology:HP:0007192,MedGen:C0454641\|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613\|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1804553C>A (GNB1, 1:1804553 C>A)?
A: The variant NC_000001.11:g.1804553C>A in gene GNB1 is classified as 'Likely_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.

Q: What is the clinical significance of NC_000001.11:g.1804562C>A (GNB1, 1:1804562 C>A)?
A: The variant NC_000001.11:g.1804562C>A 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: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1804563G>A (GNB1, 1:1804563 G>A)?
A: The variant NC_000001.11:g.1804563G>A in gene GNB1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1804565A>G (GNB1, 1:1804565 A>G)?
A: The variant NC_000001.11:g.1804565A>G in gene GNB1 is classified as 'Pathogenic/Likely_pathogenic' for Microcephaly\|Hypotonia\|Intellectual_disability,_autosomal_dominant_42\|Neurodevelopmental_Disability\|Seizure\|Global_developmental_delay\|Intellectual_disability\|Multifocal_epileptiform_discharges\|Limb_hypertonia\|Inability_to_walk\|Strabismus\|Nystagmus\|Cerebral_visual_impairment\|Feeding_difficulties\|Expressive_language_delay\|Failure_to_thrive\|Growth_delay\|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:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563\|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827\|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613\|.\|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\|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:0010841,MedGen:C4021219\|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:0000595,Human_Phenotype_Ontology:HP:0100704,MedGen:C4048268,Orphanet:447788\|Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466\|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: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\|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1804575_1804578del (GNB1, 1:1804573 GGCGT>G)?
A: The variant NC_000001.11:g.1804575_1804578del in gene GNB1 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1804575C>T (GNB1, 1:1804575 C>T)?
A: The variant NC_000001.11:g.1804575C>T in gene GNB1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided\|Intellectual_disability\|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\|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\|MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1804582C>A (GNB1, 1:1804582 C>A)?
A: The variant NC_000001.11:g.1804582C>A in gene GNB1 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_dominant_42. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014855,MedGen:C4310774,OMIM:616973,Orphanet:488613. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1806475dup (GNB1, 1:1806473 A>AC)?
A: The variant NC_000001.11:g.1806475dup in gene GNB1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Duplication. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1806476T>C (GNB1, 1:1806476 T>C)?
A: The variant NC_000001.11:g.1806476T>C in gene GNB1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1806477T>C (GNB1, 1:1806477 T>C)?
A: The variant NC_000001.11:g.1806477T>C in gene GNB1 is classified as 'Likely_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.

Q: What is the clinical significance of NC_000001.11:g.1806503A>C (GNB1, 1:1806503 A>C)?
A: The variant NC_000001.11:g.1806503A>C 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.

Q: What is the clinical significance of NC_000001.11:g.1806503A>G (GNB1, 1:1806503 A>G)?

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