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This dataset "ClinVar-STXBP1-NLP-Dataset-Pathogenic" is licensed under the ODC Public Domain Dedication and License (PDDL).
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To the extent possible under law, the author(s) have dedicated this data to the public domain worldwide by waiving all rights to the work under copyright law, including all related and neighboring rights, to the extent allowed by law.
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NO WARRANTY is provided.
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See https://opendatacommons.org/licenses/pddl/1-0/ for full legal text.
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Q: What is the clinical significance of NC_000001.11:g.943995C>T (SAMD11, 1:943995 C>T)?
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A: The variant NC_000001.11:g.943995C>T in gene SAMD11 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001587: nonsense. 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.964512C>A (KLHL17, 1:964512 C>A)?
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A: The variant NC_000001.11:g.964512C>A in gene KLHL17 is classified as 'Likely_pathogenic' for Esophageal_atresia/tracheoesophageal_fistula. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MeSH:D014138,MedGen:C0040588,OMIM:189960,Orphanet:1199. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.976215A>G (PERM1, 1:976215 A>G)?
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A: The variant NC_000001.11:g.976215A>G in gene PERM1 is classified as 'Pathogenic' for Neutrophil_inclusion_bodies|Renal_tubular_epithelial_cell_apoptosis. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|Human_Phenotype_Ontology:HP:0032647,MedGen:C5397664. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.976618_977825del (AGRN, 1:976611 CCCCCGGAGCTCCCCTAGGACAGAAGCTCACCTTCAGCCCCACGGCTGCACTCAGAGATGGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCCACCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAA>C)?
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A: The variant NC_000001.11:g.976618_977825del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1013983G>A (ISG15, 1:1013983 G>A)?
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A: The variant NC_000001.11:g.1013983G>A in gene ISG15 is classified as 'Pathogenic/Likely_pathogenic' for Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_ISG15_deficiency. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014502,MedGen:C4015293,OMIM:616126,Orphanet:319563. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1014143C>T (ISG15, 1:1014143 C>T)?
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A: The variant NC_000001.11:g.1014143C>T in gene ISG15 is classified as 'Pathogenic' for Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_ISG15_deficiency. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014502,MedGen:C4015293,OMIM:616126,Orphanet:319563. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1014319dup (ISG15, 1:1014316 C>CG)?
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A: The variant NC_000001.11:g.1014319dup in gene ISG15 is classified as 'Pathogenic' for Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_ISG15_deficiency. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014502,MedGen:C4015293,OMIM:616126,Orphanet:319563. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1014359G>T (ISG15, 1:1014359 G>T)?
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A: The variant NC_000001.11:g.1014359G>T in gene ISG15 is classified as 'Likely_pathogenic' for Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_ISG15_deficiency. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014502,MedGen:C4015293,OMIM:616126,Orphanet:319563. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1022225G>A (AGRN, 1:1022225 G>A)?
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A: The variant NC_000001.11:g.1022225G>A in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1022368C>A (AGRN, 1:1022368 C>A)?
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A: The variant NC_000001.11:g.1022368C>A in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1035275A>G (AGRN, 1:1035275 A>G)?
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A: The variant NC_000001.11:g.1035275A>G in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1040696dup (AGRN, 1:1040694 G>GC)?
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A: The variant NC_000001.11:g.1040696dup in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1040722CGGGC[3] (AGRN, 1:1040717 G>GGGGCC)?
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A: The variant NC_000001.11:g.1040722CGGGC[3] in gene AGRN is classified as 'Pathogenic/Likely_pathogenic' for Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1040820dup (AGRN, 1:1040819 G>GC)?
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A: The variant NC_000001.11:g.1040820dup in gene AGRN is classified as 'Pathogenic/Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1041338_1041348del (AGRN, 1:1041335 AGCTCCTGCGCC>A)?
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A: The variant NC_000001.11:g.1041338_1041348del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1041347_1041357del (AGRN, 1:1041338 TCCTGCGCCGCG>T)?
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A: The variant NC_000001.11:g.1041347_1041357del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1041359_1041392del (AGRN, 1:1041354 CGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACG>C)?
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A: The variant NC_000001.11:g.1041359_1041392del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1041395GTG[1] (AGRN, 1:1041394 TGTG>T)?
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A: The variant NC_000001.11:g.1041395GTG[1] in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1041561_1041564dup (AGRN, 1:1041559 G>GGCCC)?
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A: The variant NC_000001.11:g.1041561_1041564dup in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1041582C>T (AGRN, 1:1041582 C>T)?
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A: The variant NC_000001.11:g.1041582C>T in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8|Congenital_myasthenic_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1041602_1041608del (AGRN, 1:1041598 GGGACGAC>G)?
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A: The variant NC_000001.11:g.1041602_1041608del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1041628GT[1] (AGRN, 1:1041626 CTG>C)?
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A: The variant NC_000001.11:g.1041628GT[1] in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1041706_1041752del (AGRN, 1:1041678 CGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGG>C)?
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A: The variant NC_000001.11:g.1041706_1041752del in gene AGRN is classified as 'Likely_pathogenic' for Presynaptic_congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MedGen:C0751884,Orphanet:98914|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1041975C>A (AGRN, 1:1041975 C>A)?
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A: The variant NC_000001.11:g.1041975C>A in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1042053C>G (AGRN, 1:1042053 C>G)?
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A: The variant NC_000001.11:g.1042053C>G in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1042101G>A (AGRN, 1:1042101 G>A)?
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A: The variant NC_000001.11:g.1042101G>A in gene AGRN is classified as 'Pathogenic' for Abnormality_of_the_musculature. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1043197G>C (AGRN, 1:1043197 G>C)?
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A: The variant NC_000001.11:g.1043197G>C in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1043602del (AGRN, 1:1043598 GC>G)?
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A: The variant NC_000001.11:g.1043602del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1043668C>A (AGRN, 1:1043668 C>A)?
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A: The variant NC_000001.11:g.1043668C>A in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1043733G>T (AGRN, 1:1043733 G>T)?
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A: The variant NC_000001.11:g.1043733G>T in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1043822G>A (AGRN, 1:1043822 G>A)?
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A: The variant NC_000001.11:g.1043822G>A in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1044111G>T (AGRN, 1:1044111 G>T)?
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A: The variant NC_000001.11:g.1044111G>T in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.
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