SkyWhal3/ClinVar-STXBP1-NLP-Dataset-Pathogenic

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Q: What is the clinical significance of NC_000001.11:g.1045278G>T (AGRN, 1:1045278 G>T)?
A: The variant NC_000001.11:g.1045278G>T in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1045487C>T (AGRN, 1:1045487 C>T)?
A: The variant NC_000001.11:g.1045487C>T in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1045841_1045850del (AGRN, 1:1045840 GACGGCCGTGC>G)?
A: The variant NC_000001.11:g.1045841_1045850del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1046488dup (AGRN, 1:1046480 G>GC)?
A: The variant NC_000001.11:g.1046488dup in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1046663_1046681del (AGRN, 1:1046659 TGAATCTGGCAGCACTGATG>T)?
A: The variant NC_000001.11:g.1046663_1046681del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1046714del (AGRN, 1:1046712 AG>A)?
A: The variant NC_000001.11:g.1046714del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1046736G>A (AGRN, 1:1046736 G>A)?
A: The variant NC_000001.11:g.1046736G>A in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1047435_1047438del (AGRN, 1:1047431 ACAGC>A)?
A: The variant NC_000001.11:g.1047435_1047438del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1047774del (AGRN, 1:1047773 CA>C)?
A: The variant NC_000001.11:g.1047774del in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1047775G>C (AGRN, 1:1047775 G>C)?
A: The variant NC_000001.11:g.1047775G>C in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1047868C>T (AGRN, 1:1047868 C>T)?
A: The variant NC_000001.11:g.1047868C>T in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1048233_1048239dup (AGRN, 1:1048232 G>GGCCCCCC)?
A: The variant NC_000001.11:g.1048233_1048239dup in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1048978_1048979del (AGRN, 1:1048977 CAG>C)?
A: The variant NC_000001.11:g.1048978_1048979del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1049326G>A (AGRN, 1:1049326 G>A)?
A: The variant NC_000001.11:g.1049326G>A in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1049672C>T (AGRN, 1:1049672 C>T)?
A: The variant NC_000001.11:g.1049672C>T in gene AGRN 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.1049856_1049911del (AGRN, 1:1049855 CCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT>C)?
A: The variant NC_000001.11:g.1049856_1049911del in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1050275dup (AGRN, 1:1050273 C>CA)?
A: The variant NC_000001.11:g.1050275dup in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1050461C>T (AGRN, 1:1050461 C>T)?
A: The variant NC_000001.11:g.1050461C>T in gene AGRN is classified as 'Pathogenic/Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1050575G>C (AGRN, 1:1050575 G>C)?
A: The variant NC_000001.11:g.1050575G>C in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome\|Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590\|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1050763G>T (AGRN, 1:1050763 G>T)?
A: The variant NC_000001.11:g.1050763G>T in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8\|Congenital_myasthenic_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1051252_1051260del (AGRN, 1:1051246 CCCGCAGGTT>C)?
A: The variant NC_000001.11:g.1051252_1051260del in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1051275T>C (AGRN, 1:1051275 T>C)?
A: The variant NC_000001.11:g.1051275T>C in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1051301G>A (AGRN, 1:1051301 G>A)?
A: The variant NC_000001.11:g.1051301G>A in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1051311dup (AGRN, 1:1051309 C>CT)?
A: The variant NC_000001.11:g.1051311dup in gene AGRN is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_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.1051636_1051637dup (AGRN, 1:1051635 C>CTG)?
A: The variant NC_000001.11:g.1051636_1051637dup in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1053804del (AGRN, 1:1053802 GC>G)?
A: The variant NC_000001.11:g.1053804del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1053854_1053855del (AGRN, 1:1053852 CTA>C)?
A: The variant NC_000001.11:g.1053854_1053855del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1053978G>A (AGRN, 1:1053978 G>A)?
A: The variant NC_000001.11:g.1053978G>A in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1054480A>G (AGRN, 1:1054480 A>G)?
A: The variant NC_000001.11:g.1054480A>G in gene AGRN is classified as 'Likely_pathogenic' for Neurodevelopmental_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1054900_1054903delinsT (AGRN, 1:1054900 CGTG>T)?
A: The variant NC_000001.11:g.1054900_1054903delinsT in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Indel. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1213738G>A (TNFRSF4, 1:1213738 G>A)?
A: The variant NC_000001.11:g.1213738G>A in gene TNFRSF4 is classified as 'Pathogenic' for Combined_immunodeficiency_due_to_OX40_deficiency. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1232202_1232288del (B3GALT6, 1:1232198 GTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGC>G)?
A: The variant NC_000001.11:g.1232202_1232288del in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity\|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2. Variant type: Deletion. Disease database links: MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640\|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1232279A>C (B3GALT6, 1:1232279 A>C)?
A: The variant NC_000001.11:g.1232279A>C in gene B3GALT6 is classified as 'Pathogenic' for Al-Gazali_syndrome\|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2\|Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012282,MedGen:C1836121,OMIM:609465,Orphanet:2725\|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496\|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1045278G>T (AGRN, 1:1045278 G>T)?

A: The variant NC_000001.11:g.1045278G>T in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1045487C>T (AGRN, 1:1045487 C>T)?

A: The variant NC_000001.11:g.1045487C>T in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1045841_1045850del (AGRN, 1:1045840 GACGGCCGTGC>G)?

A: The variant NC_000001.11:g.1045841_1045850del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1046488dup (AGRN, 1:1046480 G>GC)?

A: The variant NC_000001.11:g.1046488dup in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1046663_1046681del (AGRN, 1:1046659 TGAATCTGGCAGCACTGATG>T)?

A: The variant NC_000001.11:g.1046663_1046681del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1046714del (AGRN, 1:1046712 AG>A)?

A: The variant NC_000001.11:g.1046714del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1046736G>A (AGRN, 1:1046736 G>A)?

A: The variant NC_000001.11:g.1046736G>A in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1047435_1047438del (AGRN, 1:1047431 ACAGC>A)?

A: The variant NC_000001.11:g.1047435_1047438del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1047774del (AGRN, 1:1047773 CA>C)?

A: The variant NC_000001.11:g.1047774del in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1047775G>C (AGRN, 1:1047775 G>C)?

A: The variant NC_000001.11:g.1047775G>C in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1047868C>T (AGRN, 1:1047868 C>T)?

A: The variant NC_000001.11:g.1047868C>T in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1048233_1048239dup (AGRN, 1:1048232 G>GGCCCCCC)?

A: The variant NC_000001.11:g.1048233_1048239dup in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1048978_1048979del (AGRN, 1:1048977 CAG>C)?

A: The variant NC_000001.11:g.1048978_1048979del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1049326G>A (AGRN, 1:1049326 G>A)?

A: The variant NC_000001.11:g.1049326G>A in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1049672C>T (AGRN, 1:1049672 C>T)?

A: The variant NC_000001.11:g.1049672C>T in gene AGRN 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.1049856_1049911del (AGRN, 1:1049855 CCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT>C)?

A: The variant NC_000001.11:g.1049856_1049911del in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1050275dup (AGRN, 1:1050273 C>CA)?

A: The variant NC_000001.11:g.1050275dup in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1050461C>T (AGRN, 1:1050461 C>T)?

A: The variant NC_000001.11:g.1050461C>T in gene AGRN is classified as 'Pathogenic/Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1050575G>C (AGRN, 1:1050575 G>C)?

A: The variant NC_000001.11:g.1050575G>C in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome|Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1050763G>T (AGRN, 1:1050763 G>T)?

A: The variant NC_000001.11:g.1050763G>T in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8|Congenital_myasthenic_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1051252_1051260del (AGRN, 1:1051246 CCCGCAGGTT>C)?

A: The variant NC_000001.11:g.1051252_1051260del in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1051275T>C (AGRN, 1:1051275 T>C)?

A: The variant NC_000001.11:g.1051275T>C in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1051301G>A (AGRN, 1:1051301 G>A)?

A: The variant NC_000001.11:g.1051301G>A in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1051311dup (AGRN, 1:1051309 C>CT)?

A: The variant NC_000001.11:g.1051311dup in gene AGRN is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_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.1051636_1051637dup (AGRN, 1:1051635 C>CTG)?

A: The variant NC_000001.11:g.1051636_1051637dup in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1053804del (AGRN, 1:1053802 GC>G)?

A: The variant NC_000001.11:g.1053804del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1053854_1053855del (AGRN, 1:1053852 CTA>C)?

A: The variant NC_000001.11:g.1053854_1053855del in gene AGRN is classified as 'Pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1053978G>A (AGRN, 1:1053978 G>A)?

A: The variant NC_000001.11:g.1053978G>A in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1054480A>G (AGRN, 1:1054480 A>G)?

A: The variant NC_000001.11:g.1054480A>G in gene AGRN is classified as 'Likely_pathogenic' for Neurodevelopmental_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1054900_1054903delinsT (AGRN, 1:1054900 CGTG>T)?

A: The variant NC_000001.11:g.1054900_1054903delinsT in gene AGRN is classified as 'Likely_pathogenic' for Congenital_myasthenic_syndrome_8. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Indel. Disease database links: MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1213738G>A (TNFRSF4, 1:1213738 G>A)?

A: The variant NC_000001.11:g.1213738G>A in gene TNFRSF4 is classified as 'Pathogenic' for Combined_immunodeficiency_due_to_OX40_deficiency. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1232202_1232288del (B3GALT6, 1:1232198 GTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGC>G)?

A: The variant NC_000001.11:g.1232202_1232288del in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2. Variant type: Deletion. Disease database links: MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1232279A>C (B3GALT6, 1:1232279 A>C)?

A: The variant NC_000001.11:g.1232279A>C in gene B3GALT6 is classified as 'Pathogenic' for Al-Gazali_syndrome|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012282,MedGen:C1836121,OMIM:609465,Orphanet:2725|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359. Review status: criteria provided, single submitter.