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ClinVar-STXBP1-NLP-Dataset-Pathogenic

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Q: What is the clinical significance of NC_012920.1:m.14482C>A (MT-ND6, MT:14482 C>A)?
A: The variant NC_012920.1:m.14482C>A in gene MT-ND6 is classified as 'Likely_pathogenic' for Leber_optic_atrophy|Mitochondrial_disease. 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:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.14482C>G (MT-ND6, MT:14482 C>G)?
A: The variant NC_012920.1:m.14482C>G in gene MT-ND6 is classified as 'Likely_pathogenic' for Leber_optic_atrophy|Mitochondrial_disease. 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:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.14484T>C (MT-ND6, MT:14484 T>C)?
A: The variant NC_012920.1:m.14484T>C in gene MT-ND6 is classified as 'Pathogenic' for Leber_optic_atrophy|Retinal_dystrophy|Leigh_syndrome|Optic_atrophy|Mitochondrial_disease|not_provided. 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|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|MedGen:C3661900. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.14487T>C (MT-ND6, MT:14487 T>C)?
A: The variant NC_012920.1:m.14487T>C in gene MT-ND6 is classified as 'Pathogenic' for Striatal_necrosis,_bilateral,_with_dystonia|Leber_optic_atrophy|MELAS_syndrome|Mitochondrial_disease|Leigh_syndrome|Leigh_syndrome_due_to_mitochondrial_complex_I_deficiency. Variant type: single_nucleotide_variant. Disease database links: MedGen:C1838954|Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:104|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:C1838951. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.14495A>G (MT-ND6, MT:14495 A>G)?
A: The variant NC_012920.1:m.14495A>G in gene MT-ND6 is classified as 'Likely_pathogenic' for Mitochondrial_disease|Leber_optic_atrophy. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:104. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.14513_14514del (MT-ND6, MT:14511 CTA>C)?
A: The variant NC_012920.1:m.14513_14514del in gene MT-ND6 is classified as 'Likely_pathogenic' for Mitochondrial_disease. Variant type: Deletion. Disease database links: 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.14568C>T (MT-ND6, MT:14568 C>T)?
A: The variant NC_012920.1:m.14568C>T in gene MT-ND6 is classified as 'Likely_pathogenic' for Leber_optic_atrophy|Mitochondrial_disease. 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:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.14597A>G (MT-ND6, MT:14597 A>G)?
A: The variant NC_012920.1:m.14597A>G in gene MT-ND6 is classified as 'Likely_pathogenic' for Mitochondrial_disease|Leigh_syndrome|not_specified|Dystonic_disorder|Dysarthria. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|Human_Phenotype_Ontology:HP:0001260,Human_Phenotype_Ontology:HP:0002327,MedGen:C0013362. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.14674T>C (MT-TE, MT:14674 T>C)?
A: The variant NC_012920.1:m.14674T>C in gene MT-TE is classified as 'Likely_pathogenic' for Mitochondrial_myopathy_with_reversible_cytochrome_C_oxidase_deficiency|MELAS_syndrome|Mitochondrial_disease|not_provided. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009,Orphanet:254864|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|MedGen:C3661900. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.14692A>G (MT-TE, MT:14692 A>G)?
A: The variant NC_012920.1:m.14692A>G in gene MT-TE is classified as 'Pathogenic' for Diabetes-deafness_syndrome_maternally_transmitted|Mitochondrial_disease. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010785,MedGen:C0342289,OMIM:520000,Orphanet:225|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.14709T>C (MT-TE, MT:14709 T>C)?
A: The variant NC_012920.1:m.14709T>C in gene MT-TE is classified as 'Likely_pathogenic' for Inborn_mitochondrial_myopathy|Myopathy,_mitochondrial,_with_diabetes_mellitus|Diabetes-deafness_syndrome_maternally_transmitted|Mitochondrial_disease|MELAS_syndrome. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966|MedGen:C4016608|MONDO:MONDO:0010785,MedGen:C0342289,OMIM:520000,Orphanet:225|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.14724G>A (MT-TE, MT:14724 G>A)?
A: The variant NC_012920.1:m.14724G>A in gene MT-TE is classified as 'Pathogenic' for Mitochondrial_disease|Gonadal_dysgenesis|Abnormal_basal_ganglia_MRI_signal_intensity|Progressive_spastic_paraparesis|Cerebellar_ataxia. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|Human_Phenotype_Ontology:HP:0000133,Human_Phenotype_Ontology:HP:0003243,MONDO:MONDO:0001967,MedGen:C0018051|Human_Phenotype_Ontology:HP:0012751,MedGen:C4022745|Human_Phenotype_Ontology:HP:0007199,MedGen:C0747251|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002. Review status: criteria provided, multiple submitters, no conflicts.
Q: What is the clinical significance of NC_012920.1:m.14739G>A (MT-TE, MT:14739 G>A)?
A: The variant NC_012920.1:m.14739G>A in gene MT-TE is classified as 'Pathogenic' 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.14783TTAA[1] (MT-CYB, MT:14780 AAATT>A)?
A: The variant NC_012920.1:m.14783TTAA[1] in gene MT-CYB is classified as 'Likely_pathogenic' for Mitochondrial_disease|Parkinsonism/MELAS_overlap_syndrome. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|MedGen:C4016600. Review status: reviewed by expert panel.
Q: What is the clinical significance of NC_012920.1:m.15150G>A (MT-CYB, MT:15150 G>A)?
A: The variant NC_012920.1:m.15150G>A in gene MT-CYB is classified as 'Likely_pathogenic' for Leber_optic_atrophy|Mitochondrial_myopathy_with_reversible_cytochrome_C_oxidase_deficiency|Exercise_intolerance|Mitochondrial_disease. 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:0010780,MedGen:C3151898,OMIM:500009,Orphanet:254864|Human_Phenotype_Ontology:HP:0003546,MedGen:C0424551|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.15215G>A (MT-CYB, MT:15215 G>A)?
A: The variant NC_012920.1:m.15215G>A in gene MT-CYB is classified as 'Likely_pathogenic' 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.15242G>A (MT-CYB, MT:15242 G>A)?
A: The variant NC_012920.1:m.15242G>A in gene MT-CYB is classified as 'Likely_pathogenic' for Mitochondrial_encephalomyopathy|Leigh_syndrome|Mitochondrial_disease. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0004675,MedGen:C0162666|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|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.15615G>A (MT-CYB, MT:15615 G>A)?
A: The variant NC_012920.1:m.15615G>A in gene MT-CYB is classified as 'Likely_pathogenic' for Exercise_intolerance|Mitochondrial_myopathy_with_reversible_cytochrome_C_oxidase_deficiency. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0003546,MedGen:C0424551|MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009,Orphanet:254864. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_012920.1:m.15915G>A (MT-TT, MT:15915 G>A)?
A: The variant NC_012920.1:m.15915G>A in gene MT-TT is classified as 'Pathogenic' 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.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.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.