Datasets:
SkyWhal3
/
ClinVar-STXBP1-NLP-Dataset

Dataset card Data Studio Files
xet
Community
1
text
stringlengths
0
19.2k
Q: What is the clinical significance of NC_012920.1:m.15740C>T (MT-CYB, MT:15740 C>T)?
A: The variant NC_012920.1:m.15740C>T in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15743C>T (MT-CYB, MT:15743 C>T)?
A: The variant NC_012920.1:m.15743C>T in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15746A>G (MT-CYB, MT:15746 A>G)?
A: The variant NC_012920.1:m.15746A>G in gene MT-CYB is classified as 'Benign' for Leigh_syndrome|not_provided. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
Q: What is the clinical significance of NC_012920.1:m.15747T>C (MT-CYB, MT:15747 T>C)?
A: The variant NC_012920.1:m.15747T>C in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15758A>G (MT-CYB, MT:15758 A>G)?
A: The variant NC_012920.1:m.15758A>G in gene MT-CYB is classified as 'Benign' for Leigh_syndrome|Familial_cancer_of_breast. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15770C>T (MT-CYB, MT:15770 C>T)?
A: The variant NC_012920.1:m.15770C>T in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15773G>A (MT-CYB, MT:15773 G>A)?
A: The variant NC_012920.1:m.15773G>A in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15774T>C (MT-CYB, MT:15774 T>C)?
A: The variant NC_012920.1:m.15774T>C in gene MT-CYB is classified as 'Likely_benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15776A>G (MT-CYB, MT:15776 A>G)?
A: The variant NC_012920.1:m.15776A>G in gene MT-CYB is classified as 'Likely_benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15777G>A (MT-CYB, MT:15777 G>A)?
A: The variant NC_012920.1:m.15777G>A in gene MT-CYB is classified as 'Benign/Likely_benign' for Leigh_syndrome|not_provided. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
Q: What is the clinical significance of NC_012920.1:m.15777G>C (MT-CYB, MT:15777 G>C)?
A: The variant NC_012920.1:m.15777G>C in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15779T>C (MT-CYB, MT:15779 T>C)?
A: The variant NC_012920.1:m.15779T>C in gene MT-CYB is classified as 'Likely_benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15784T>C (MT-CYB, MT:15784 T>C)?
A: The variant NC_012920.1:m.15784T>C in gene MT-CYB is classified as 'Benign' for Familial_cancer_of_breast. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15785T>C (MT-CYB, MT:15785 T>C)?
A: The variant NC_012920.1:m.15785T>C in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15789C>T (MT-CYB, MT:15789 C>T)?
A: The variant NC_012920.1:m.15789C>T in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15791A>G (MT-CYB, MT:15791 A>G)?
A: The variant NC_012920.1:m.15791A>G in gene MT-CYB is classified as 'Likely_benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15793C>A (MT-CYB, MT:15793 C>A)?
A: The variant NC_012920.1:m.15793C>A in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15803G>A (MT-CYB, MT:15803 G>A)?
A: The variant NC_012920.1:m.15803G>A in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15804T>C (MT-CYB, MT:15804 T>C)?
A: The variant NC_012920.1:m.15804T>C in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15812G>A (MT-CYB, MT:15812 G>A)?
A: The variant NC_012920.1:m.15812G>A in gene MT-CYB is classified as 'Benign' for Leber_optic_atrophy|Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:104|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15813T>C (MT-CYB, MT:15813 T>C)?
A: The variant NC_012920.1:m.15813T>C in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15813T>G (MT-CYB, MT:15813 T>G)?
A: The variant NC_012920.1:m.15813T>G in gene MT-CYB is classified as 'Likely_benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15824A>G (MT-CYB, MT:15824 A>G)?
A: The variant NC_012920.1:m.15824A>G in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15828C>T (MT-CYB, MT:15828 C>T)?
A: The variant NC_012920.1:m.15828C>T in gene MT-CYB is classified as 'Likely_benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15831T>C (MT-CYB, MT:15831 T>C)?
A: The variant NC_012920.1:m.15831T>C in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15833C>T (MT-CYB, MT:15833 C>T)?
A: The variant NC_012920.1:m.15833C>T in gene MT-CYB is classified as 'Likely_benign' for not_provided. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15834T>C (MT-CYB, MT:15834 T>C)?
A: The variant NC_012920.1:m.15834T>C in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15843T>C (MT-CYB, MT:15843 T>C)?
A: The variant NC_012920.1:m.15843T>C in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15848A>G (MT-CYB, MT:15848 A>G)?
A: The variant NC_012920.1:m.15848A>G in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome|not_provided|Mitochondrial_disease. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.15849C>T (MT-CYB, MT:15849 C>T)?
A: The variant NC_012920.1:m.15849C>T in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15851A>G (MT-CYB, MT:15851 A>G)?
A: The variant NC_012920.1:m.15851A>G in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15852T>C (MT-CYB, MT:15852 T>C)?
A: The variant NC_012920.1:m.15852T>C in gene MT-CYB is classified as 'Benign' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15852T>G (MT-CYB, MT:15852 T>G)?
A: The variant NC_012920.1:m.15852T>G in gene MT-CYB is classified as 'Uncertain_significance' for Leigh_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506. Review status: criteria provided, single submitter.