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)
single nucleotide variantNM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter)BMPR1APathogenic108867702788677027GAcriteria provided, single submitterClinGen:CA254358,OMIM:601299.0003
single nucleotide variantNM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp)BMPR1ALikely pathogenic108867907388679073CAcriteria provided, single submitterClinGen:CA254361,UniProtKB:P36894#VAR_015534,OMIM:601299.0005
single nucleotide variantNM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)BMPR1APathogenic/Likely pathogenic108865958788659587TCcriteria provided, multiple submitters, no conflictsClinGen:CA194624,UniProtKB:P36894#VAR_015533,OMIM:601299.0006
DeletionNM_004329.3(BMPR1A):c.369del (p.Glu123fs)BMPR1APathogenic108865958588659585GAGcriteria provided, single submitterClinGen:CA288008
single nucleotide variantNM_004329.3(BMPR1A):c.1474-2A>GBMPR1ALikely pathogenic108868334988683349AGcriteria provided, single submitterClinGen:CA164082
DeletionNM_004329.3(BMPR1A):c.826_827del (p.Glu276fs)BMPR1APathogenic108867704088677041CAGCcriteria provided, multiple submitters, no conflictsClinGen:CA166103
single nucleotide variantNM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr)BMPR1APathogenic/Likely pathogenic108865958888659588GAcriteria provided, multiple submitters, no conflictsClinGen:CA168082
single nucleotide variantNM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)BMPR1APathogenic108867703288677032CTcriteria provided, multiple submitters, no conflictsClinGen:CA168144
single nucleotide variantNM_004329.3(BMPR1A):c.1037A>G (p.His346Arg)BMPR1ALikely pathogenic108867909788679097AGcriteria provided, single submitterClinGen:CA168682
single nucleotide variantNM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)BMPR1APathogenic108867689788676897CTcriteria provided, multiple submitters, no conflictsClinGen:CA294476