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Q: What is the clinical significance of NC_000001.11:g.2408529_2408530del (PEX10, 1:2408528 TGG>T)?
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A: The variant NC_000001.11:g.2408529_2408530del in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408545del (PEX10, 1:2408542 GC>G)?
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A: The variant NC_000001.11:g.2408545del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408545_2408546del (PEX10, 1:2408544 CCT>C)?
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A: The variant NC_000001.11:g.2408545_2408546del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408548_2408551del (PEX10, 1:2408544 CCTGT>C)?
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A: The variant NC_000001.11:g.2408548_2408551del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408556del (PEX10, 1:2408555 AC>A)?
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A: The variant NC_000001.11:g.2408556del in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder_6A_(Zellweger)|Spastic_ataxia. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:C1864399|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2408558_2408568del (PEX10, 1:2408555 ACGAAGACCGCC>A)?
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A: The variant NC_000001.11:g.2408558_2408568del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408579del (PEX10, 1:2408576 GC>G)?
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A: The variant NC_000001.11:g.2408579del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408591TCAG[1] (PEX10, 1:2408590 CTCAG>C)?
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A: The variant NC_000001.11:g.2408591TCAG[1] in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Microsatellite. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408604_2408611del (PEX10, 1:2408599 GGTGGCCGT>G)?
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A: The variant NC_000001.11:g.2408604_2408611del in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408603del (PEX10, 1:2408601 TG>T)?
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A: The variant NC_000001.11:g.2408603del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408614_2408623del (PEX10, 1:2408612 TGACGCATCCA>T)?
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A: The variant NC_000001.11:g.2408614_2408623del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408628GC[3] (PEX10, 1:2408626 C>CCG)?
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A: The variant NC_000001.11:g.2408628GC[3] in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408634_2408649dup (PEX10, 1:2408628 G>GCGCCCCTGAGCAGCCA)?
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A: The variant NC_000001.11:g.2408634_2408649dup in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MedGen:C1864399. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2408634_2408635del (PEX10, 1:2408633 CCT>C)?
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A: The variant NC_000001.11:g.2408634_2408635del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408636_2408651dup (PEX10, 1:2408635 T>TGAGCAGCCACGCCCAC)?
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A: The variant NC_000001.11:g.2408636_2408651dup in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Duplication. Disease database links: MedGen:C1864399|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2408668del (PEX10, 1:2408664 TC>T)?
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A: The variant NC_000001.11:g.2408668del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408679G>A (PEX10, 1:2408679 G>A)?
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A: The variant NC_000001.11:g.2408679G>A in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C1864399|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2408692del (PEX10, 1:2408688 CG>C)?
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A: The variant NC_000001.11:g.2408692del in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MedGen:C1864399. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2408689_2408706delinsCAGGGGCCCA (PEX10, 1:2408689 GGGGTCAGCCTGCAGCTC>CAGGGGCCCA)?
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A: The variant NC_000001.11:g.2408689_2408706delinsCAGGGGCCCA in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2408700G>A (PEX10, 1:2408700 G>A)?
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A: The variant NC_000001.11:g.2408700G>A in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder|Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44|MedGen:C1864399. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2408714del (PEX10, 1:2408713 CA>C)?
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A: The variant NC_000001.11:g.2408714del in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder_6A_(Zellweger)|not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MedGen:C1864399|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|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.2408714_2408717del (PEX10, 1:2408713 CAGGG>C)?
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A: The variant NC_000001.11:g.2408714_2408717del in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408719del (PEX10, 1:2408714 AG>A)?
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A: The variant NC_000001.11:g.2408719del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408757del (PEX10, 1:2408756 TG>T)?
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A: The variant NC_000001.11:g.2408757del in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder_6A_(Zellweger)|not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MedGen:C1864399|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|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.2408760_2408761insCGTCACCAGCA (PEX10, 1:2408760 G>GCGTCACCAGCA)?
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A: The variant NC_000001.11:g.2408760_2408761insCGTCACCAGCA in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Insertion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408801_2408805del (PEX10, 1:2408800 TATCCG>T)?
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A: The variant NC_000001.11:g.2408801_2408805del in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408805del (PEX10, 1:2408804 CG>C)?
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A: The variant NC_000001.11:g.2408805del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408829_2408830del (PEX10, 1:2408828 CTG>C)?
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A: The variant NC_000001.11:g.2408829_2408830del in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408833G>C (PEX10, 1:2408833 G>C)?
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A: The variant NC_000001.11:g.2408833G>C in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C1864399|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912. Review status: criteria provided, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2408845del (PEX10, 1:2408840 TC>T)?
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A: The variant NC_000001.11:g.2408845del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408841C>A (PEX10, 1:2408841 C>A)?
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A: The variant NC_000001.11:g.2408841C>A in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C1864399. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408843C>T (PEX10, 1:2408843 C>T)?
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A: The variant NC_000001.11:g.2408843C>T in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44. Review status: criteria provided, single submitter.
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Q: What is the clinical significance of NC_000001.11:g.2408852T>C (PEX10, 1:2408852 T>C)?
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A: The variant NC_000001.11:g.2408852T>C in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912. Review status: criteria provided, single submitter.
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