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ClinVar-STXBP1-NLP-Dataset-Pathogenic

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Q: What is the clinical significance of NC_000001.11:g.1437315del (VWA1, 1:1437308 GC>G)?
A: The variant NC_000001.11:g.1437315del in gene VWA1 is classified as 'Pathogenic/Likely_pathogenic' for Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, multiple submitters, no conflicts.
Q: What is the clinical significance of NC_000001.11:g.1437401C>G (VWA1, 1:1437401 C>G)?
A: The variant NC_000001.11:g.1437401C>G in gene VWA1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001587: nonsense,SO:0001819: synonymous_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1437411C>T (VWA1, 1:1437411 C>T)?
A: The variant NC_000001.11:g.1437411C>T in gene VWA1 is classified as 'Likely_pathogenic' for Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001587: nonsense,SO:0001819: synonymous_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1439111dup (VWA1, 1:1439110 A>AC)?
A: The variant NC_000001.11:g.1439111dup in gene VWA1 is classified as 'Likely_pathogenic' for Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1439212del (VWA1, 1:1439207 CG>C)?
A: The variant NC_000001.11:g.1439212del in gene VWA1 is classified as 'Likely_pathogenic' for Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1439328del (VWA1, 1:1439326 AG>A)?
A: The variant NC_000001.11:g.1439328del in gene VWA1 is classified as 'Likely_pathogenic' for Neuromuscular_disease|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381|MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1439463_1439466dup (VWA1, 1:1439462 T>TCGTC)?
A: The variant NC_000001.11:g.1439463_1439466dup in gene VWA1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Duplication. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1439537_1439540dup (VWA1, 1:1439536 G>GGCTA)?
A: The variant NC_000001.11:g.1439537_1439540dup in gene VWA1 is classified as 'Likely_pathogenic' for Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7|not_provided. Molecular consequence: SO:0001587: nonsense,SO:0001624: 3_prime_UTR_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
Q: What is the clinical significance of NC_000001.11:g.1439618_1439666del (VWA1, 1:1439614 ACGCTGCAGGGCCTGGCGCCGGGCACCGCCTACCTGGTGACCGTGACCGC>A)?
A: The variant NC_000001.11:g.1439618_1439666del in gene VWA1 is classified as 'Likely_pathogenic' for Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1512270T>A (ATAD3A, 1:1512270 T>A)?
A: The variant NC_000001.11:g.1512270T>A in gene ATAD3A is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1516013_1516019delinsCCATGTCA (ATAD3A, 1:1516013 TTATGCC>CCATGTCA)?
A: The variant NC_000001.11:g.1516013_1516019delinsCCATGTCA in gene ATAD3A is classified as 'Likely_pathogenic' for Harel-Yoon_syndrome|Pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790|MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1516036T>G (ATAD3A, 1:1516036 T>G)?
A: The variant NC_000001.11:g.1516036T>G in gene ATAD3A is classified as 'Pathogenic' for Pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954. Review status: no assertion criteria provided.
Q: What is the clinical significance of NC_000001.11:g.1516084T>C (ATAD3A, 1:1516084 T>C)?
A: The variant NC_000001.11:g.1516084T>C in gene ATAD3A is classified as 'Likely_pathogenic' for ATAD3A_deficiency. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: .. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1516087_1516089del (ATAD3A, 1:1516086 AAAG>A)?
A: The variant NC_000001.11:g.1516087_1516089del in gene ATAD3A is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1516572_1518006del (ATAD3A, 1:1516567 CACACCTGGCTAATTTTTATATTTTTAGTAGAGTCGGGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGTGCCACTGTGCCTGCCTTGTTTCATATTATTATTTTTTTATAGACAGAGTCTTAGTCTGTCTTCCAGGCCGGTGTGCAGTGGCGTGATCTCAGCTCACCGCAACCTCTACCTCCCGGGTTCAACCTCTTTCCTCAGCCTCCGAGCAGCTGGGACTACAAGAGCCCGCCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTTCAGGCTGGTCTCGAACTACTAACCTCAGTTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTATAAGCGAGAGCCGTCGCACCCGGTCCACTCAGCAGGATTCCTAAAATAAGCATGAGCTCTGCCCTCAGTGCAGTCCAAAAGGGGGTGTCCGGCCTCCCTCCCGGGGGGCCTTCGCGGGCTTCTGCTGGTGCTTCTGTGCCTGTGGGTCTGGATTCCTCCAGGGCCTGATCCTGGGTGCAGATGCGGCTGGAAGCCCTGAGCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTGCTGTGCTCTGCAGGAGTATGAGGCCGCCGTGGAGCAGCTCAAGAGCGAGCAGATCCGGGCGCAGGCTGAGGAGAGGAGGAAGACCCTGAGCGAGGAGACCCGGCAGCACCAGGCCGTAAGAGCGCAAGAGGCCGCGAGGGAGGCCGCCCGGCTGCGGGGAGCGGCCTGGGGCAGGACTGGGAGCTGGGTGTGGTCCCGGGGCACTCTGGAGTCAGCCATTAGAGCTGCCCTCGGAACGGCCTTGCACAAACGCCTAAGACCTGTAAGGTCCCTCACTGCTGAGCCGGACGGGAGGTCCCCGCGCCTCCCCACGTTTGTGTGAGGCTGATGGCGCGTCGGAGTCCCCGGCGCTCCGCCCAGTCGGCCCAGACTGCAGCTCCCGGCTGAGATGTGTCTTTGCCGCCCTCTTCTCCCCCAGAGGGCCCAGTATCAAGACAAGCTGGCCCGGCAGCGCTACGAGGACCAACTGAAGCAGCAGGTGAGCTCAGCCTCCCCTGCGAGGCGCCTGCGTCCCTGAGAACGTAGGTGGCTTTGTGGGACCAGTCAGTGGGTCAGAGGCCACGGGGCAAGAACGCTGGGGTTGCTGACGGTGGGTGCTAGAGCAGGGGAAACTACTCGGACAGACACGCACCAGCACACGTGTACAGGCACACATGCAGACGTGTGCACACATGTACATGGAGACACAGGCACCTACCCACACGG>C)?
A: The variant NC_000001.11:g.1516572_1518006del in gene ATAD3A is classified as 'Pathogenic' for Harel-Yoon_syndrome. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1517251del (ATAD3A, 1:1517250 GC>G)?
A: The variant NC_000001.11:g.1517251del in gene ATAD3A is classified as 'Pathogenic' for Harel-Yoon_syndrome|Pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790|MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1517316T>G (ATAD3A, 1:1517316 T>G)?
A: The variant NC_000001.11:g.1517316T>G in gene ATAD3A is classified as 'Likely_pathogenic' for not_specified. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1517413G>A (ATAD3A, 1:1517413 G>A)?
A: The variant NC_000001.11:g.1517413G>A in gene ATAD3A is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
Q: What is the clinical significance of NC_000001.11:g.1517714A>C (ATAD3A, 1:1517714 A>C)?
A: The variant NC_000001.11:g.1517714A>C in gene ATAD3A is classified as 'Likely_pathogenic' for Pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1518966C>T (ATAD3A, 1:1518966 C>T)?
A: The variant NC_000001.11:g.1518966C>T in gene ATAD3A is classified as 'Pathogenic' for Pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954. Review status: no assertion criteria provided.
Q: What is the clinical significance of NC_000001.11:g.1520188C>T (ATAD3A, 1:1520188 C>T)?
A: The variant NC_000001.11:g.1520188C>T in gene ATAD3A is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1520284C>T (ATAD3A, 1:1520284 C>T)?
A: The variant NC_000001.11:g.1520284C>T in gene ATAD3A is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1523838G>T (ATAD3A, 1:1523838 G>T)?
A: The variant NC_000001.11:g.1523838G>T in gene ATAD3A is classified as 'Likely_pathogenic' for Harel-Yoon_syndrome. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1524324dup (ATAD3A, 1:1524323 C>CG)?
A: The variant NC_000001.11:g.1524324dup in gene ATAD3A is classified as 'Likely_pathogenic' for Harel-Yoon_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1525242T>G (ATAD3A, 1:1525242 T>G)?
A: The variant NC_000001.11:g.1525242T>G in gene ATAD3A is classified as 'Pathogenic' for Congenital_cerebellar_hypoplasia|Pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1525292G>A (ATAD3A, 1:1525292 G>A)?
A: The variant NC_000001.11:g.1525292G>A in gene ATAD3A is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1527722_1527723del (ATAD3A, 1:1527721 AAC>A)?
A: The variant NC_000001.11:g.1527722_1527723del in gene ATAD3A is classified as 'Pathogenic' for Harel-Yoon_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1527771del (ATAD3A, 1:1527769 TC>T)?
A: The variant NC_000001.11:g.1527771del in gene ATAD3A is classified as 'Likely_pathogenic' for Harel-Yoon_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1529299C>T (ATAD3A, 1:1529299 C>T)?
A: The variant NC_000001.11:g.1529299C>T in gene ATAD3A is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Harel-Yoon_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790. Review status: criteria provided, multiple submitters, no conflicts.
Q: What is the clinical significance of NC_000001.11:g.1529300G>A (ATAD3A, 1:1529300 G>A)?
A: The variant NC_000001.11:g.1529300G>A in gene ATAD3A is classified as 'Likely_pathogenic' for not_provided|Harel-Yoon_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790. Review status: criteria provided, multiple submitters, no conflicts.
Q: What is the clinical significance of NC_000001.11:g.1529328G>A (ATAD3A, 1:1529328 G>A)?
A: The variant NC_000001.11:g.1529328G>A in gene ATAD3A is classified as 'Likely_pathogenic' for Harel-Yoon_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1534000del (ATAD3A, 1:1533999 AG>A)?
A: The variant NC_000001.11:g.1534000del in gene ATAD3A is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.
Q: What is the clinical significance of NC_000001.11:g.1535372G>A (TMEM240, 1:1535372 G>A)?
A: The variant NC_000001.11:g.1535372G>A in gene TMEM240 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Spinocerebellar_ataxia_type_21. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0011833,MedGen:C1843891,OMIM:607454,Orphanet:98773. Review status: criteria provided, multiple submitters, no conflicts.