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ClinVar-STXBP1-NLP-Dataset

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Q: What is the clinical significance of NC_012920.1:m.15965A>G (MT-TP, MT:15965 A>G)?
A: The variant NC_012920.1:m.15965A>G in gene MT-TP is classified as 'Benign' 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.15967G>A (MT-TP, MT:15967 G>A)?
A: The variant NC_012920.1:m.15967G>A in gene MT-TP is classified as 'Uncertain_significance' for MERFF_syndrome|MELAS_syndrome|Mitochondrial_disease. Variant type: single_nucleotide_variant. Disease database links: MedGen:C4016625|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550|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.15968T>C (MT-TP, MT:15968 T>C)?
A: The variant NC_012920.1:m.15968T>C in gene MT-TP 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.15970T>C (MT-TP, MT:15970 T>C)?
A: The variant NC_012920.1:m.15970T>C in gene MT-TP 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.15976T>C (MT-TP, MT:15976 T>C)?
A: The variant NC_012920.1:m.15976T>C in gene MT-TP 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.15977C>T (MT-TP, MT:15977 C>T)?
A: The variant NC_012920.1:m.15977C>T in gene MT-TP is classified as 'Benign' for not_provided|MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|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.15978C>T (MT-TP, MT:15978 C>T)?
A: The variant NC_012920.1:m.15978C>T in gene MT-TP 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.15983T>C (MT-TP, MT:15983 T>C)?
A: The variant NC_012920.1:m.15983T>C in gene MT-TP 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.15984T>C (MT-TP, MT:15984 T>C)?
A: The variant NC_012920.1:m.15984T>C in gene MT-TP 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.15990C>T (MT-TP, MT:15990 C>T)?
A: The variant NC_012920.1:m.15990C>T in gene MT-TP is classified as 'Likely_pathogenic' for Mitochondrial_disease|Myopathy. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.15992A>T (MT-TP, MT:15992 A>T)?
A: The variant NC_012920.1:m.15992A>T in gene MT-TP 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.15994A>G (MT-TP, MT:15994 A>G)?
A: The variant NC_012920.1:m.15994A>G in gene MT-TP 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.15995G>A (MT-TP, MT:15995 G>A)?
A: The variant NC_012920.1:m.15995G>A in gene MT-TP 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.16002T>C (MT-TP, MT:16002 T>C)?
A: The variant NC_012920.1:m.16002T>C in gene MT-TP is classified as 'Pathogenic/Likely_pathogenic' for MELAS_syndrome|MERRF_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000,Orphanet:551. Review status: criteria provided, multiple submitters, no conflicts.
Q: What is the clinical significance of NC_012920.1:m.16003T>C (MT-TP, MT:16003 T>C)?
A: The variant NC_012920.1:m.16003T>C in gene MT-TP 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.16011A>G (MT-TP, MT:16011 A>G)?
A: The variant NC_012920.1:m.16011A>G in gene MT-TP 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.16013A>G (MT-TP, MT:16013 A>G)?
A: The variant NC_012920.1:m.16013A>G in gene MT-TP 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.16018_16032dup (MT-TP, MT:16015 T>TATTCTCTGTTCTTTC)?
A: The variant NC_012920.1:m.16018_16032dup in gene MT-TP is classified as 'Uncertain_significance' 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.16017T>C (MT-TP, MT:16017 T>C)?
A: The variant NC_012920.1:m.16017T>C in gene MT-TP 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.16021C>T (MT-TP, MT:16021 C>T)?
A: The variant NC_012920.1:m.16021C>T in gene MT-TP 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.16023G>A (MT-TP, MT:16023 G>A)?
A: The variant NC_012920.1:m.16023G>A in gene MT-TP is classified as 'Uncertain_significance' for not_specified. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.16159C>A (unknown, MT:16159 C>A)?
A: The variant NC_012920.1:m.16159C>A in gene unknown is classified as 'Uncertain_significance' for Mitochondrial_inheritance. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001427,MedGen:C0887941. Review status: no assertion criteria provided.
Q: What is the clinical significance of NC_012920.1:m.16182_16183del (unknown, MT:16179 CAA>C)?
A: The variant NC_012920.1:m.16182_16183del in gene unknown is classified as 'Uncertain_significance' for Mitochondrial_inheritance. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0001427,MedGen:C0887941. Review status: no assertion criteria provided.
Q: What is the clinical significance of NC_012920.1:m.16223C>T (unknown, MT:16223 C>T)?
A: The variant NC_012920.1:m.16223C>T in gene unknown is classified as 'association_not_found' for Venous_thromboembolism. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0005399,MeSH:D054556,MedGen:C1861172. Review status: no assertion criteria provided.
Q: What is the clinical significance of NC_012920.1:m.16230A>G (MT-CYB, MT:16230 A>G)?
A: The variant NC_012920.1:m.16230A>G in gene MT-CYB is classified as 'Benign' for MERRF_syndrome|Mitochondrial_inheritance. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000,Orphanet:551|Human_Phenotype_Ontology:HP:0001427,MedGen:C0887941. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.16274G>A (MT-CYB, MT:16274 G>A)?
A: The variant NC_012920.1:m.16274G>A in gene MT-CYB is classified as 'Benign' for MERRF_syndrome|Mitochondrial_inheritance. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000,Orphanet:551|Human_Phenotype_Ontology:HP:0001427,MedGen:C0887941. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.16319G>A (MT-CYB, MT:16319 G>A)?
A: The variant NC_012920.1:m.16319G>A in gene MT-CYB is classified as 'Benign' for MERRF_syndrome|Mitochondrial_inheritance. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000,Orphanet:551|Human_Phenotype_Ontology:HP:0001427,MedGen:C0887941. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NT_113889.1:g.54175G>A (unknown, NT_113889.1:54175 G>A)?
A: The variant NT_113889.1:g.54175G>A in gene unknown is classified as 'Uncertain_significance' for Keratoconus. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300. Review status: no assertion criteria provided.
Q: What is the clinical significance of NT_187633.1:g.267335C>T (LOC391322, NT_187633.1:267335 C>T)?
A: The variant NT_187633.1:g.267335C>T in gene LOC391322 is classified as 'Uncertain_significance' for Inborn_genetic_diseases. 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 unknown (LOC391322, NT_187633.1:267863 T>G)?
A: The variant unknown in gene LOC391322 is classified as 'Uncertain_significance' for not_specified. Molecular consequence: SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374. Review status: criteria provided, single submitter.
Q: What is the clinical significance of unknown (LOC391322, NT_187633.1:267897 A>G)?
A: The variant unknown in gene LOC391322 is classified as 'Uncertain_significance' for not_specified. Molecular consequence: SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374. Review status: criteria provided, single submitter.
Q: What is the clinical significance of unknown (GSTT1, NT_187633.1:270687 C>T)?
A: The variant unknown in gene GSTT1 is classified as 'Uncertain_significance' for not_specified. Molecular consequence: SO:0001583: missense_variant,SO:0001819: synonymous_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374. Review status: criteria provided, single submitter.
Q: What is the clinical significance of unknown (GSTT1, NT_187633.1:270696 C>T)?
A: The variant unknown in gene GSTT1 is classified as 'Uncertain_significance' for not_specified. Molecular consequence: SO:0001583: missense_variant,SO:0001819: synonymous_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374. Review status: criteria provided, single submitter.