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ClinVar-STXBP1-NLP-Dataset

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A: The variant NC_012920.1:m.15921T>C in gene MT-TT is classified as 'Uncertain_significance' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15923A>G (MT-TT, MT:15923 A>G)?
A: The variant NC_012920.1:m.15923A>G in gene MT-TT is classified as 'Likely_pathogenic' for Generalized_hypotonia|Neonatal_onset|Sudden_cardiac_death|Infantile_onset|Jaundice|Constipation|Failure_to_thrive|Variant_of_unknown_significance|Mitochondrial_disease. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120|Human_Phenotype_Ontology:HP:0003623,MedGen:C1855106|EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298|Human_Phenotype_Ontology:HP:0003593,MedGen:C1848924|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0002019,Human_Phenotype_Ontology:HP:0002241,Human_Phenotype_Ontology:HP:0003786,MONDO:MONDO:0002203,MedGen:C0009806|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|MedGen:C2986382|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.15924A>G (MT-TT, MT:15924 A>G)?
A: The variant NC_012920.1:m.15924A>G in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15925C>T (MT-TT, MT:15925 C>T)?
A: The variant NC_012920.1:m.15925C>T in gene MT-TT is classified as 'Likely_benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15926C>T (MT-TT, MT:15926 C>T)?
A: The variant NC_012920.1:m.15926C>T in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15927G>A (MT-TT, MT:15927 G>A)?
A: The variant NC_012920.1:m.15927G>A in gene MT-TT is classified as 'Benign' for Familial_cancer_of_breast|MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15928G>A (MT-TT, MT:15928 G>A)?
A: The variant NC_012920.1:m.15928G>A in gene MT-TT is classified as 'Benign' for MELAS_syndrome|Ovarian_neoplasm. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15928G>T (MT-TT, MT:15928 G>T)?
A: The variant NC_012920.1:m.15928G>T in gene MT-TT is classified as 'not_provided' for Mitochondrial_DNA-related_disorder. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN552492. Review status: no classification provided.
Q: What is the clinical significance of NC_012920.1:m.15929A>G (MT-TT, MT:15929 A>G)?
A: The variant NC_012920.1:m.15929A>G in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15930G>A (MT-TT, MT:15930 G>A)?
A: The variant NC_012920.1:m.15930G>A in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15932T>C (MT-TT, MT:15932 T>C)?
A: The variant NC_012920.1:m.15932T>C in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15932T>G (MT-TT, MT:15932 T>G)?
A: The variant NC_012920.1:m.15932T>G in gene MT-TT is classified as 'Uncertain_significance' for Ovarian_neoplasm. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15937del (MT-TT, MT:15933 GA>G)?
A: The variant NC_012920.1:m.15937del in gene MT-TT is classified as 'Likely_benign' for MELAS_syndrome. Variant type: Deletion. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15935A>G (MT-TT, MT:15935 A>G)?
A: The variant NC_012920.1:m.15935A>G in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15936A>G (MT-TT, MT:15936 A>G)?
A: The variant NC_012920.1:m.15936A>G in gene MT-TT is classified as 'Likely_benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15936A>T (MT-TT, MT:15936 A>T)?
A: The variant NC_012920.1:m.15936A>T in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15937A>G (MT-TT, MT:15937 A>G)?
A: The variant NC_012920.1:m.15937A>G in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15937A>T (MT-TT, MT:15937 A>T)?
A: The variant NC_012920.1:m.15937A>T in gene MT-TT is classified as 'Likely_benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15938C>T (MT-TT, MT:15938 C>T)?
A: The variant NC_012920.1:m.15938C>T in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15944dup (MT-TT, MT:15939 C>CT)?
A: The variant NC_012920.1:m.15944dup in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: Duplication. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15939C>T (MT-TT, MT:15939 C>T)?
A: The variant NC_012920.1:m.15939C>T in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15944del (MT-TT, MT:15939 CT>C)?
A: The variant NC_012920.1:m.15944del in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: Deletion. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15940T>C (MT-TT, MT:15940 T>C)?
A: The variant NC_012920.1:m.15940T>C in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15941T>C (MT-TT, MT:15941 T>C)?
A: The variant NC_012920.1:m.15941T>C in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15942T>C (MT-TT, MT:15942 T>C)?
A: The variant NC_012920.1:m.15942T>C in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15943T>C (MT-TT, MT:15943 T>C)?
A: The variant NC_012920.1:m.15943T>C in gene MT-TT is classified as 'Benign' for MELAS_syndrome|Ovarian_neoplasm. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15944T>C (MT-TT, MT:15944 T>C)?
A: The variant NC_012920.1:m.15944T>C in gene MT-TT is classified as 'Likely_benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15946C>T (MT-TT, MT:15946 C>T)?
A: The variant NC_012920.1:m.15946C>T in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15947A>G (MT-TT, MT:15947 A>G)?
A: The variant NC_012920.1:m.15947A>G in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15949G>A (MT-TT, MT:15949 G>A)?
A: The variant NC_012920.1:m.15949G>A in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15950G>A (MT-TT, MT:15950 G>A)?
A: The variant NC_012920.1:m.15950G>A in gene MT-TT is classified as 'Uncertain_significance' for Parkinson_disease,_mitochondrial|MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15951A>G (MT-TT, MT:15951 A>G)?
A: The variant NC_012920.1:m.15951A>G in gene MT-TT is classified as 'Benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15952C>T (MT-TT, MT:15952 C>T)?
A: The variant NC_012920.1:m.15952C>T in gene MT-TT is classified as 'Likely_benign' for MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15958A>T (MT-TP, MT:15958 A>T)?
A: The variant NC_012920.1:m.15958A>T in gene MT-TP is classified as 'Uncertain_significance' for Mitochondrial_disease. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380. Review status: reviewed by expert panel.