Knowledge base for genomic medicine in Japanese
海綿状血管腫
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001029835.2(CCM2):c.382C>T (p.Gln128Ter)CCM2Pathogenic74510409245104092CTcriteria provided, single submitterOMIM Allelic Variant:607929.0002
single nucleotide variantNM_031443.3(CCM2):c.1A>G (p.Met1Val)CCM2Pathogenic74503993345039933AGcriteria provided, single submitterOMIM Allelic Variant:607929.0005
single nucleotide variantNM_194456.1(KRIT1):c.1363C>T (p.Gln455Ter)KRIT1Pathogenic79185218491852184GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:604214.0004
single nucleotide variantNM_194456.1(KRIT1):c.601C>G (p.Gln201Glu)KRIT1Pathogenic79186484591864845GCcriteria provided, single submitterOMIM Allelic Variant:604214.0009
indelNM_031443.3(CCM2):c.30+5_30+6delinsTTCCM2Pathogenic74503996745039968GCTTcriteria provided, multiple submitters, no conflicts-
copy number lossGRCh37/hg19 7p13(chr7:45065944-45115876)x1CCM2Pathogenic74506594445115876nanacriteria provided, single submitter-
deletionNM_194456.1(KRIT1):c.1807del (p.His603fs)KRIT1Pathogenic79184321791843217TGTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_194456.1(KRIT1):c.1731-2A>GKRIT1Pathogenic79184329591843295TCcriteria provided, single submitter-
single nucleotide variantNM_194456.1(KRIT1):c.1267C>T (p.Arg423Ter)KRIT1Pathogenic79185228091852280GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_194456.1(KRIT1):c.1146+1G>AKRIT1Pathogenic79185583991855839CTcriteria provided, multiple submitters, no conflicts-