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Q: What is the clinical significance of NC_000001.11:g.1232279A>G (B3GALT6, 1:1232279 A>G)?
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A: The variant NC_000001.11:g.1232279A>G in gene B3GALT6 is classified as 'Pathogenic/Likely_pathogenic' for Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures|not_provided|B3GALT6-related_disorder|Spondyloepimetaphyseal_dysplasia_with_joint_laxity. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359|MedGen:C3661900|.|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1232280T>A (B3GALT6, 1:1232280 T>A)?
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A: The variant NC_000001.11:g.1232280T>A in gene B3GALT6 is classified as 'Likely_pathogenic' for Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1232280T>C (B3GALT6, 1:1232280 T>C)?
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A: The variant NC_000001.11:g.1232280T>C in gene B3GALT6 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1232281G>A (B3GALT6, 1:1232281 G>A)?
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A: The variant NC_000001.11:g.1232281G>A in gene B3GALT6 is classified as 'Pathogenic' for Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1232362C>G (B3GALT6, 1:1232362 C>G)?
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A: The variant NC_000001.11:g.1232362C>G in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. 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.
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Q: What is the clinical significance of NC_000001.11:g.1232471A>G (B3GALT6, 1:1232471 A>G)?
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A: The variant NC_000001.11:g.1232471A>G in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1232478C>T (B3GALT6, 1:1232478 C>T)?
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A: The variant NC_000001.11:g.1232478C>T in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures|Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1232505del (B3GALT6, 1:1232504 AT>A)?
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A: The variant NC_000001.11:g.1232505del in gene B3GALT6 is classified as 'Pathogenic' for Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1232513A>G (B3GALT6, 1:1232513 A>G)?
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A: The variant NC_000001.11:g.1232513A>G in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. 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.
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Q: What is the clinical significance of NC_000001.11:g.1232517G>A (B3GALT6, 1:1232517 G>A)?
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A: The variant NC_000001.11:g.1232517G>A in gene B3GALT6 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.
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Q: What is the clinical significance of NC_000001.11:g.1232601_1232622del (B3GALT6, 1:1232594 CGGCGCGCCCTGGAGCGGGAGCA>C)?
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A: The variant NC_000001.11:g.1232601_1232622del in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_fractures. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C4017378. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1232703G>A (B3GALT6, 1:1232703 G>A)?
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A: The variant NC_000001.11:g.1232703G>A in gene B3GALT6 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.
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Q: What is the clinical significance of NC_000001.11:g.1232744G>A (B3GALT6, 1:1232744 G>A)?
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A: The variant NC_000001.11:g.1232744G>A in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1232754C>A (B3GALT6, 1:1232754 C>A)?
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A: The variant NC_000001.11:g.1232754C>A in gene B3GALT6 is classified as 'Pathogenic' for Al-Gazali_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012282,MedGen:C1836121,OMIM:609465,Orphanet:2725. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1232791_1232798del (B3GALT6, 1:1232787 TGCGCGCCC>T)?
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A: The variant NC_000001.11:g.1232791_1232798del in gene B3GALT6 is classified as 'Pathogenic/Likely_pathogenic' for B3GALT6-related_disorder|not_provided|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: .|MedGen:C3661900|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1232799_1232806del (B3GALT6, 1:1232791 CGCCCGCGA>C)?
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A: The variant NC_000001.11:g.1232799_1232806del in gene B3GALT6 is classified as 'Pathogenic' for Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1232834T>C (B3GALT6, 1:1232834 T>C)?
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A: The variant NC_000001.11:g.1232834T>C in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_fractures|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MedGen:C4017378|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1232866del (B3GALT6, 1:1232859 CG>C)?
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A: The variant NC_000001.11:g.1232866del in gene B3GALT6 is classified as 'Likely_pathogenic' for not_provided|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1232896C>G (B3GALT6, 1:1232896 C>G)?
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A: The variant NC_000001.11:g.1232896C>G in gene B3GALT6 is classified as 'Pathogenic' for Al-Gazali_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012282,MedGen:C1836121,OMIM:609465,Orphanet:2725. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1232897G>C (B3GALT6, 1:1232897 G>C)?
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A: The variant NC_000001.11:g.1232897G>C in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_fractures|Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C4017378|MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1232914C>G (B3GALT6, 1:1232914 C>G)?
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A: The variant NC_000001.11:g.1232914C>G in gene B3GALT6 is classified as 'Pathogenic' for Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1232927G>A (B3GALT6, 1:1232927 G>A)?
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A: The variant NC_000001.11:g.1232927G>A in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_fractures. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C4017378. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1232959C>G (B3GALT6, 1:1232959 C>G)?
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A: The variant NC_000001.11:g.1232959C>G in gene B3GALT6 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.
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Q: What is the clinical significance of NC_000001.11:g.1233041C>T (B3GALT6, 1:1233041 C>T)?
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A: The variant NC_000001.11:g.1233041C>T in gene B3GALT6 is classified as 'Likely_pathogenic' for Spondyloepiphyseal_dysplasia. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0002655,Human_Phenotype_Ontology:HP:0002776,Human_Phenotype_Ontology:HP:0005893,MONDO:MONDO:0016761,MedGen:C0038015,Orphanet:253. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1233044C>T (B3GALT6, 1:1233044 C>T)?
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A: The variant NC_000001.11:g.1233044C>T in gene B3GALT6 is classified as 'Pathogenic/Likely_pathogenic' for Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1233177G>C (B3GALT6, 1:1233177 G>C)?
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A: The variant NC_000001.11:g.1233177G>C in gene B3GALT6 is classified as 'Pathogenic' for Spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010075,MedGen:C4017377,OMIM:271640,Orphanet:642099,Orphanet:93359. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1233191C>T (B3GALT6, 1:1233191 C>T)?
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A: The variant NC_000001.11:g.1233191C>T in gene B3GALT6 is classified as 'Likely_pathogenic' for B3GALT6-related_disorder. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: .. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1233203T>A (B3GALT6, 1:1233203 T>A)?
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A: The variant NC_000001.11:g.1233203T>A in gene B3GALT6 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.1312102CA[1] (INTS11, 1:1312101 TCA>T)?
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A: The variant NC_000001.11:g.1312102CA[1] in gene INTS11 is classified as 'Likely_pathogenic' for Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1312103A>T (INTS11, 1:1312103 A>T)?
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A: The variant NC_000001.11:g.1312103A>T in gene INTS11 is classified as 'Likely_pathogenic' for Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1312272GT[2] (INTS11, 1:1312271 CGT>C)?
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A: The variant NC_000001.11:g.1312272GT[2] in gene INTS11 is classified as 'Likely_pathogenic' for Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1312841G>A (INTS11, 1:1312841 G>A)?
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A: The variant NC_000001.11:g.1312841G>A in gene INTS11 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.1313756dup (INTS11, 1:1313752 C>CA)?
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A: The variant NC_000001.11:g.1313756dup in gene INTS11 is classified as 'Likely_pathogenic' for Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.1319313G>A (INTS11, 1:1319313 G>A)?
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