SkyWhal3/ClinVar-STXBP1-NLP-Dataset-Pathogenic

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A: The variant NC_000001.11:g.3411824C>T in gene PRDM16 is classified as 'Pathogenic' for Left_ventricular_noncompaction_cardiomyopathy. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412186del (PRDM16, 1:3412184 GC>G)?
A: The variant NC_000001.11:g.3412186del in gene PRDM16 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412301A>T (PRDM16, 1:3412301 A>T)?
A: The variant NC_000001.11:g.3412301A>T in gene PRDM16 is classified as 'Pathogenic' for Left_ventricular_noncompaction_8\|Left_ventricular_noncompaction_cardiomyopathy. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260\|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412331C>T (PRDM16, 1:3412331 C>T)?
A: The variant NC_000001.11:g.3412331C>T in gene PRDM16 is classified as 'Likely_pathogenic' for Left_ventricular_noncompaction_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412631del (PRDM16, 1:3412628 GC>G)?
A: The variant NC_000001.11:g.3412631del in gene PRDM16 is classified as 'Likely_pathogenic' for Left_ventricular_noncompaction_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412792dup (PRDM16, 1:3412788 A>AC)?
A: The variant NC_000001.11:g.3412792dup in gene PRDM16 is classified as 'Pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3414616T>C (PRDM16, 1:3414616 T>C)?
A: The variant NC_000001.11:g.3414616T>C in gene PRDM16 is classified as 'Pathogenic' for Cardiomyopathy,_dilated,_1LL. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800367,MedGen:C3809289. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3417998G>T (PRDM16, 1:3417998 G>T)?
A: The variant NC_000001.11:g.3417998G>T in gene PRDM16 is classified as 'Likely_pathogenic' for Left_ventricular_noncompaction_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3426083del (PRDM16, 1:3426081 AC>A)?
A: The variant NC_000001.11:g.3426083del in gene PRDM16 is classified as 'Likely_pathogenic' for PRDM16-related_congenital_heart_disease\|Left_ventricular_noncompaction_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: .\|MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3722204G>T (TP73, 1:3722204 G>T)?
A: The variant NC_000001.11:g.3722204G>T in gene TP73 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_47,_and_lissencephaly\|Respiratory_failure. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466\|Human_Phenotype_Ontology:HP:0002878,Human_Phenotype_Ontology:HP:0004877,MONDO:MONDO:0021113,MedGen:C1145670. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3728137C>T (TP73, 1:3728137 C>T)?
A: The variant NC_000001.11:g.3728137C>T in gene TP73 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_47,_and_lissencephaly. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3729449G>A (TP73, 1:3729449 G>A)?
A: The variant NC_000001.11:g.3729449G>A in gene TP73 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_47,_and_lissencephaly. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3731040del (TP73, 1:3731039 CT>C)?
A: The variant NC_000001.11:g.3731040del in gene TP73 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_47,_and_lissencephaly. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3816286G>A (CEP104, 1:3816286 G>A)?
A: The variant NC_000001.11:g.3816286G>A in gene CEP104 is classified as 'Likely_pathogenic' for CEP104-related_disorder. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: .. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3816372T>C (CEP104, 1:3816372 T>C)?
A: The variant NC_000001.11:g.3816372T>C in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_25. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3823227_3823243del (CEP104, 1:3823221 CCAGCTTCTCCGGTTTGG>C)?
A: The variant NC_000001.11:g.3823227_3823243del in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_25. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3823564T>C (CEP104, 1:3823564 T>C)?
A: The variant NC_000001.11:g.3823564T>C in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25\|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475\|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3825757C>T (CEP104, 1:3825757 C>T)?
A: The variant NC_000001.11:g.3825757C>T in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_and_related_disorders. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3825763del (CEP104, 1:3825760 GT>G)?
A: The variant NC_000001.11:g.3825763del in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25\|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475\|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3825766_3825767insAA (CEP104, 1:3825765 C>CAA)?
A: The variant NC_000001.11:g.3825766_3825767insAA in gene CEP104 is classified as 'Pathogenic' for Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3825837del (CEP104, 1:3825835 AT>A)?
A: The variant NC_000001.11:g.3825837del in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25\|Intellectual_developmental_disorder,_autosomal_recessive_77\|Joubert_syndrome_and_related_disorders. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475\|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988\|MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.3826707C>A (CEP104, 1:3826707 C>A)?
A: The variant NC_000001.11:g.3826707C>A in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25\|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475\|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3829264A>G (CEP104, 1:3829264 A>G)?
A: The variant NC_000001.11:g.3829264A>G in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25\|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475\|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3829328CTTT[1] (CEP104, 1:3829325 CTTCT>C)?
A: The variant NC_000001.11:g.3829328CTTT[1] in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25\|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475\|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3829333_3829336del (CEP104, 1:3829332 CTTTT>C)?
A: The variant NC_000001.11:g.3829333_3829336del in gene CEP104 is classified as '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.3829826del (CEP104, 1:3829822 AT>A)?
A: The variant NC_000001.11:g.3829826del in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25\|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001587: nonsense. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475\|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3829936dup (CEP104, 1:3829932 C>CA)?
A: The variant NC_000001.11:g.3829936dup in gene CEP104 is classified as 'Pathogenic' for Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3829943G>A (CEP104, 1:3829943 G>A)?
A: The variant NC_000001.11:g.3829943G>A in gene CEP104 is classified as 'Pathogenic/Likely_pathogenic' for not_provided. Molecular consequence: SO:0001587: nonsense. 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.3829955C>A (CEP104, 1:3829955 C>A)?
A: The variant NC_000001.11:g.3829955C>A in gene CEP104 is classified as 'Pathogenic/Likely_pathogenic' for Joubert_syndrome_25\|See_cases. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475\|.. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.3829966_3829969del (CEP104, 1:3829963 TCATA>T)?
A: The variant NC_000001.11:g.3829966_3829969del in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_and_related_disorders. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3831137del (CEP104, 1:3831136 GT>G)?
A: The variant NC_000001.11:g.3831137del in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_25. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3833960C>A (CEP104, 1:3833960 C>A)?
A: The variant NC_000001.11:g.3833960C>A in gene CEP104 is classified as 'Likely_pathogenic' for CEP104-related_disorder. Molecular consequence: SO:0001587: nonsense. 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.3834924C>T (CEP104, 1:3834924 C>T)?
A: The variant NC_000001.11:g.3834924C>T in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_and_related_disorders. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3835081_3835082insA (CEP104, 1:3835081 G>GA)?
A: The variant NC_000001.11:g.3835081_3835082insA in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_25. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475. Review status: no assertion criteria provided.

A: The variant NC_000001.11:g.3411824C>T in gene PRDM16 is classified as 'Pathogenic' for Left_ventricular_noncompaction_cardiomyopathy. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412186del (PRDM16, 1:3412184 GC>G)?

A: The variant NC_000001.11:g.3412186del in gene PRDM16 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412301A>T (PRDM16, 1:3412301 A>T)?

A: The variant NC_000001.11:g.3412301A>T in gene PRDM16 is classified as 'Pathogenic' for Left_ventricular_noncompaction_8|Left_ventricular_noncompaction_cardiomyopathy. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412331C>T (PRDM16, 1:3412331 C>T)?

A: The variant NC_000001.11:g.3412331C>T in gene PRDM16 is classified as 'Likely_pathogenic' for Left_ventricular_noncompaction_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412631del (PRDM16, 1:3412628 GC>G)?

A: The variant NC_000001.11:g.3412631del in gene PRDM16 is classified as 'Likely_pathogenic' for Left_ventricular_noncompaction_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3412792dup (PRDM16, 1:3412788 A>AC)?

A: The variant NC_000001.11:g.3412792dup in gene PRDM16 is classified as 'Pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3414616T>C (PRDM16, 1:3414616 T>C)?

A: The variant NC_000001.11:g.3414616T>C in gene PRDM16 is classified as 'Pathogenic' for Cardiomyopathy,_dilated,_1LL. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800367,MedGen:C3809289. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3417998G>T (PRDM16, 1:3417998 G>T)?

A: The variant NC_000001.11:g.3417998G>T in gene PRDM16 is classified as 'Likely_pathogenic' for Left_ventricular_noncompaction_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3426083del (PRDM16, 1:3426081 AC>A)?

A: The variant NC_000001.11:g.3426083del in gene PRDM16 is classified as 'Likely_pathogenic' for PRDM16-related_congenital_heart_disease|Left_ventricular_noncompaction_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: .|MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3722204G>T (TP73, 1:3722204 G>T)?

A: The variant NC_000001.11:g.3722204G>T in gene TP73 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_47,_and_lissencephaly|Respiratory_failure. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466|Human_Phenotype_Ontology:HP:0002878,Human_Phenotype_Ontology:HP:0004877,MONDO:MONDO:0021113,MedGen:C1145670. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3728137C>T (TP73, 1:3728137 C>T)?

A: The variant NC_000001.11:g.3728137C>T in gene TP73 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_47,_and_lissencephaly. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3729449G>A (TP73, 1:3729449 G>A)?

A: The variant NC_000001.11:g.3729449G>A in gene TP73 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_47,_and_lissencephaly. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3731040del (TP73, 1:3731039 CT>C)?

A: The variant NC_000001.11:g.3731040del in gene TP73 is classified as 'Pathogenic' for Ciliary_dyskinesia,_primary,_47,_and_lissencephaly. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0030346,MedGen:C5561951,OMIM:619466. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3816286G>A (CEP104, 1:3816286 G>A)?

A: The variant NC_000001.11:g.3816286G>A in gene CEP104 is classified as 'Likely_pathogenic' for CEP104-related_disorder. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: .. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3816372T>C (CEP104, 1:3816372 T>C)?

A: The variant NC_000001.11:g.3816372T>C in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_25. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3823227_3823243del (CEP104, 1:3823221 CCAGCTTCTCCGGTTTGG>C)?

A: The variant NC_000001.11:g.3823227_3823243del in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_25. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3823564T>C (CEP104, 1:3823564 T>C)?

A: The variant NC_000001.11:g.3823564T>C in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3825757C>T (CEP104, 1:3825757 C>T)?

A: The variant NC_000001.11:g.3825757C>T in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_and_related_disorders. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3825763del (CEP104, 1:3825760 GT>G)?

A: The variant NC_000001.11:g.3825763del in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3825766_3825767insAA (CEP104, 1:3825765 C>CAA)?

A: The variant NC_000001.11:g.3825766_3825767insAA in gene CEP104 is classified as 'Pathogenic' for Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3825837del (CEP104, 1:3825835 AT>A)?

A: The variant NC_000001.11:g.3825837del in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25|Intellectual_developmental_disorder,_autosomal_recessive_77|Joubert_syndrome_and_related_disorders. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988|MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.3826707C>A (CEP104, 1:3826707 C>A)?

A: The variant NC_000001.11:g.3826707C>A in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3829264A>G (CEP104, 1:3829264 A>G)?

A: The variant NC_000001.11:g.3829264A>G in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3829328CTTT[1] (CEP104, 1:3829325 CTTCT>C)?

A: The variant NC_000001.11:g.3829328CTTT[1] in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3829333_3829336del (CEP104, 1:3829332 CTTTT>C)?

A: The variant NC_000001.11:g.3829333_3829336del in gene CEP104 is classified as '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.3829826del (CEP104, 1:3829822 AT>A)?

A: The variant NC_000001.11:g.3829826del in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_25|Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001587: nonsense. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3829936dup (CEP104, 1:3829932 C>CA)?

A: The variant NC_000001.11:g.3829936dup in gene CEP104 is classified as 'Pathogenic' for Intellectual_developmental_disorder,_autosomal_recessive_77. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0031031,MedGen:C5774193,OMIM:619988. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.3829943G>A (CEP104, 1:3829943 G>A)?

A: The variant NC_000001.11:g.3829943G>A in gene CEP104 is classified as 'Pathogenic/Likely_pathogenic' for not_provided. Molecular consequence: SO:0001587: nonsense. 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.3829955C>A (CEP104, 1:3829955 C>A)?

A: The variant NC_000001.11:g.3829955C>A in gene CEP104 is classified as 'Pathogenic/Likely_pathogenic' for Joubert_syndrome_25|See_cases. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|.. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.3829966_3829969del (CEP104, 1:3829963 TCATA>T)?

A: The variant NC_000001.11:g.3829966_3829969del in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_and_related_disorders. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3831137del (CEP104, 1:3831136 GT>G)?

A: The variant NC_000001.11:g.3831137del in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_25. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3833960C>A (CEP104, 1:3833960 C>A)?

A: The variant NC_000001.11:g.3833960C>A in gene CEP104 is classified as 'Likely_pathogenic' for CEP104-related_disorder. Molecular consequence: SO:0001587: nonsense. 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.3834924C>T (CEP104, 1:3834924 C>T)?

A: The variant NC_000001.11:g.3834924C>T in gene CEP104 is classified as 'Likely_pathogenic' for Joubert_syndrome_and_related_disorders. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.3835081_3835082insA (CEP104, 1:3835081 G>GA)?

A: The variant NC_000001.11:g.3835081_3835082insA in gene CEP104 is classified as 'Pathogenic' for Joubert_syndrome_25. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475. Review status: no assertion criteria provided.