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This dataset "ClinVar-STXBP1-NLP-Dataset" 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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Variant 3385321 (NC_000001.11:g.66927del) at 1:66926 AG>A in gene OR4F5.
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- Disease: Retinitis_pigmentosa
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- Clinical significance: Uncertain_significance
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- Variant type: Deletion
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- Molecular consequence: SO:0001627: intron_variant
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- Review status: criteria provided, single submitter
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- Disease database links: Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791
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Variant 2205837 (NC_000001.11:g.69134A>G) at 1:69134 A>G in gene OR4F5.
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- Disease: not_specified
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- Clinical significance: Likely_benign
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:CN169374
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Variant 3205580 (NC_000001.11:g.69314T>G) at 1:69314 T>G in gene OR4F5.
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- Disease: not_specified
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:CN169374
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Variant 3205581 (NC_000001.11:g.69423G>A) at 1:69423 G>A in gene OR4F5.
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- Disease: not_specified
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:CN169374
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Variant 2252161 (NC_000001.11:g.69581C>G) at 1:69581 C>G in gene OR4F5.
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- Disease: not_specified
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:CN169374
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Variant 2396347 (NC_000001.11:g.69682G>A) at 1:69682 G>A in gene OR4F5.
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- Disease: not_specified
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:CN169374
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Variant 3205582 (NC_000001.11:g.69731T>C) at 1:69731 T>C in gene OR4F5.
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- Disease: not_specified
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:CN169374
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Variant 2288999 (NC_000001.11:g.69769T>C) at 1:69769 T>C in gene OR4F5.
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- Disease: not_specified
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:CN169374
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Variant 2351346 (NC_000001.11:g.69995G>C) at 1:69995 G>C in gene OR4F5.
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- Disease: not_specified
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:CN169374
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Variant 3892489 (NC_000001.11:g.809289_809290insATCAGGTCA) at 1:809284 T>TGGTCAATCA in gene LINC01409.
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- Disease: Brown-Vialetto-van_Laere_syndrome_1|Progressive_bulbar_palsy_of_childhood
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- Clinical significance: Benign
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- Variant type: Insertion
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- Review status: criteria provided, single submitter
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- Disease database links: MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530,Orphanet:572543,Orphanet:97229|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500
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Variant 3388928 (NC_000001.11:g.924518G>C) at 1:924518 G>C in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Likely_benign
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001819: synonymous_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 1924157 (NC_000001.11:g.925946C>G) at 1:925946 C>G in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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