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Q: What is the clinical significance of NC_000001.11:g.2406483C>G (PEX10, 1:2406483 C>G)?
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A: The variant NC_000001.11:g.2406483C>G in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder,_complementation_group_7|not_provided. Molecular consequence: SO:0001575: splice_donor_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|MedGen:C1864399|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.2406483C>T (PEX10, 1:2406483 C>T)?
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A: The variant NC_000001.11:g.2406483C>T in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B. Molecular consequence: SO:0001575: splice_donor_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.2406489_2406490insAAGT (PEX10, 1:2406488 C>CTAAG)?
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A: The variant NC_000001.11:g.2406489_2406490insAAGT 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. 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.2406493del (PEX10, 1:2406492 TG>T)?
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A: The variant NC_000001.11:g.2406493del 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. 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.2406497C>T (PEX10, 1:2406497 C>T)?
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A: The variant NC_000001.11:g.2406497C>T 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. 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.2406509del (PEX10, 1:2406508 GC>G)?
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A: The variant NC_000001.11:g.2406509del 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.2406514C>T (PEX10, 1:2406514 C>T)?
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A: The variant NC_000001.11:g.2406514C>T 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. 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.2406515C>T (PEX10, 1:2406515 C>T)?
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A: The variant NC_000001.11:g.2406515C>T in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_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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Q: What is the clinical significance of NC_000001.11:g.2406531_2406543del (PEX10, 1:2406525 GGTGGCCGCAGGGC>G)?
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A: The variant NC_000001.11:g.2406531_2406543del 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. Variant type: Deletion. 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.2406526G>C (PEX10, 1:2406526 G>C)?
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A: The variant NC_000001.11:g.2406526G>C in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder_6B. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44. Review status: no assertion criteria provided.
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Q: What is the clinical significance of NC_000001.11:g.2406529dup (PEX10, 1:2406527 T>TG)?
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A: The variant NC_000001.11:g.2406529dup in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Duplication. Disease database links: MedGen:C1864399|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.2406528_2406529insC (PEX10, 1:2406528 G>GC)?
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A: The variant NC_000001.11:g.2406528_2406529insC in gene PEX10 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Insertion. 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.2406548_2406552del (PEX10, 1:2406547 TGGGTG>T)?
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A: The variant NC_000001.11:g.2406548_2406552del 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. 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.2406561C>A (PEX10, 1:2406561 C>A)?
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A: The variant NC_000001.11:g.2406561C>A in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder_6A_(Zellweger)|not_provided. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C1864399|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|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.2406565dup (PEX10, 1:2406563 T>TC)?
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A: The variant NC_000001.11:g.2406565dup 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: Duplication. 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.2406566A>G (PEX10, 1:2406566 A>G)?
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A: The variant NC_000001.11:g.2406566A>G in gene PEX10 is classified as 'Likely_pathogenic' for not_provided|Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|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.2406576_2406584del (PEX10, 1:2406567 GGCACAGGGT>G)?
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A: The variant NC_000001.11:g.2406576_2406584del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001619: non-coding_transcript_variant,SO:0001822: inframe_deletion. 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.2406569C>G (PEX10, 1:2406569 C>G)?
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A: The variant NC_000001.11:g.2406569C>G in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_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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Q: What is the clinical significance of NC_000001.11:g.2406581del (PEX10, 1:2406580 CA>C)?
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A: The variant NC_000001.11:g.2406581del 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.2406581_2406582del (PEX10, 1:2406580 CAG>C)?
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A: The variant NC_000001.11:g.2406581_2406582del in gene PEX10 is classified as 'Pathogenic' for Peroxisome_biogenesis_disorder|Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B|not_provided|Peroxisome_biogenesis_disorder,_complementation_group_7|Zellweger_spectrum_disorders. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. 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:C3661900|MedGen:C1864399|MONDO:MONDO:0019609,MedGen:C0043459,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.2406581_2406582insC (PEX10, 1:2406581 A>AC)?
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A: The variant NC_000001.11:g.2406581_2406582insC 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: 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.2406585_2406586del (PEX10, 1:2406581 AGG>A)?
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A: The variant NC_000001.11:g.2406585_2406586del 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. 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.2406592_2406605del (PEX10, 1:2406588 TTCTGGAAACGGCTC>T)?
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A: The variant NC_000001.11:g.2406592_2406605del 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.2406601TC[2] (PEX10, 1:2406599 GCT>G)?
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A: The variant NC_000001.11:g.2406601TC[2] in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Microsatellite. Disease database links: 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.2406606C>A (PEX10, 1:2406606 C>A)?
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A: The variant NC_000001.11:g.2406606C>A in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. 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.2406620C>T (PEX10, 1:2406620 C>T)?
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A: The variant NC_000001.11:g.2406620C>T in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001574: splice_acceptor_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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Q: What is the clinical significance of NC_000001.11:g.2406704_2406724del (PEX10, 1:2406702 TGTGGCCCCCGCACGCACCTGC>T)?
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A: The variant NC_000001.11:g.2406704_2406724del in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001575: splice_donor_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.2406718A>G (PEX10, 1:2406718 A>G)?
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A: The variant NC_000001.11:g.2406718A>G in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B. Molecular consequence: SO:0001575: splice_donor_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, multiple submitters, no conflicts.
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Q: What is the clinical significance of NC_000001.11:g.2406718A>T (PEX10, 1:2406718 A>T)?
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A: The variant NC_000001.11:g.2406718A>T in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B. Molecular consequence: SO:0001575: splice_donor_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.2406719C>G (PEX10, 1:2406719 C>G)?
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A: The variant NC_000001.11:g.2406719C>G in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for Inborn_genetic_diseases|Peroxisome_biogenesis_disorder,_complementation_group_7. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|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.2406719C>T (PEX10, 1:2406719 C>T)?
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A: The variant NC_000001.11:g.2406719C>T in gene PEX10 is classified as 'Likely_pathogenic' for Peroxisome_biogenesis_disorder,_complementation_group_7|Peroxisome_biogenesis_disorder_6A_(Zellweger). Molecular consequence: SO:0001575: splice_donor_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.2406736del (PEX10, 1:2406734 GC>G)?
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A: The variant NC_000001.11:g.2406736del 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|not_provided. 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|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44|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.2406741_2406742del (PEX10, 1:2406739 GGT>G)?
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A: The variant NC_000001.11:g.2406741_2406742del in gene PEX10 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Peroxisome_biogenesis_disorder_6A_(Zellweger)|Peroxisome_biogenesis_disorder_6B|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:C3661900|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.2406749C>T (PEX10, 1:2406749 C>T)?
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