Knowledge base for genomic medicine in Japanese
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小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_007217.4(PDCD10):c.475-1G>APDCD10Pathogenic3167405105167405105CTcriteria provided, single submitterOMIM:609118.0006
DeletionNM_031443.4(CCM2):c.23del (p.Gly8fs)CCM2Pathogenic74503995345039953AGAcriteria provided, single submitterOMIM:607929.0001
single nucleotide variantNM_031443.4(CCM2):c.319C>T (p.Gln107Ter)CCM2Pathogenic74510409245104092CTcriteria provided, multiple submitters, no conflictsOMIM:607929.0002,ClinGen:CA252392
single nucleotide variantNM_031443.4(CCM2):c.1A>G (p.Met1Val)CCM2Pathogenic74503993345039933AGcriteria provided, multiple submitters, no conflictsClinGen:CA252397,OMIM:607929.0005
single nucleotide variantNM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)KRIT1Pathogenic79184265591842655GAcriteria provided, single submitterOMIM:604214.0001
single nucleotide variantNM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)KRIT1Pathogenic79185218491852184GAcriteria provided, multiple submitters, no conflictsClinGen:CA253579,OMIM:604214.0004
single nucleotide variantNM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)KRIT1Likely pathogenic79186580291865802TCcriteria provided, single submitterClinGen:CA253586,OMIM:604214.0008
single nucleotide variantNM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)KRIT1Pathogenic79186484591864845GCcriteria provided, single submitterClinGen:CA253589,OMIM:604214.0009
IndelNM_031443.4(CCM2):c.30+5_30+6delinsTTCCM2Pathogenic74503996745039968GCTTcriteria provided, multiple submitters, no conflictsOMIM:607929.0010,ClinGen:CA274922
copy number lossGRCh37/hg19 7p13(chr7:45065944-45115876)x1CCM2Pathogenic74506594445115876nanacriteria provided, single submitter-