Knowledge base for genomic medicine in Japanese
遺伝性混合ポリポーシス症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
copy number lossGRCh38/hg38 10q23.2(chr10:86787518-86892381)x1BMPR1APathogenic108854727588652138nanacriteria provided, single submitterdbVar:nssv577305,dbVar:nsv531275
deletionNM_004329.2(BMPR1A):c.369del (p.Glu123fs)BMPR1APathogenic108865958588659585GAGcriteria provided, single submitter-
single nucleotide variantNM_004329.2(BMPR1A):c.1474-2A>GBMPR1ALikely pathogenic108868334988683349AGcriteria provided, single submitter-
deletionNM_004329.2(BMPR1A):c.826_827del (p.Glu276fs)BMPR1APathogenic108867704088677041CAGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.2(BMPR1A):c.371G>A (p.Cys124Tyr)BMPR1ALikely pathogenic108865958888659588GAcriteria provided, single submitter-
single nucleotide variantNM_004329.2(BMPR1A):c.817C>T (p.Arg273Ter)BMPR1APathogenic108867703288677032CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.2(BMPR1A):c.682C>T (p.Arg228Ter)BMPR1APathogenic108867689788676897CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.2(BMPR1A):c.1013C>A (p.Ala338Asp)BMPR1ALikely pathogenic108867907388679073CAcriteria provided, single submitterOMIM Allelic Variant:601299.0005,UniProtKB (protein):P36894#VAR_015534
single nucleotide variantNM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg)BMPR1ALikely pathogenic108865958788659587TCcriteria provided, single submitterOMIM Allelic Variant:601299.0006,UniProtKB (protein):P36894#VAR_015533
single nucleotide variantNM_004329.2(BMPR1A):c.262G>T (p.Glu88Ter)BMPR1APathogenic108865191588651915GTcriteria provided, multiple submitters, no conflicts-