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)
DeletionNM_194454.3(KRIT1):c.1355_1356del (p.Arg452fs)KRIT1Pathogenic79185219191852192GACGcriteria provided, single submitterClinGen:CA10603079
single nucleotide variantNM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)KRIT1Pathogenic/Likely pathogenic79186473191864731GAcriteria provided, multiple submitters, no conflictsClinGen:CA10605352
single nucleotide variantNM_007217.4(PDCD10):c.103C>T (p.Arg35Ter)PDCD10Pathogenic3167422677167422677GAcriteria provided, multiple submitters, no conflictsClinGen:CA16042486,OMIM:609118.0001,OMIM:609118.0003
DeletionNM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)KRIT1Pathogenic/Likely pathogenic79185125191851255CTTCTTCcriteria provided, multiple submitters, no conflictsClinGen:CA16042726
DeletionNM_194454.3(KRIT1):c.907_913del (p.Leu303fs)KRIT1Pathogenic79186383991863845CTTAGTAACcriteria provided, single submitterClinGen:CA16042733
single nucleotide variantNM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)CCM2Pathogenic74510412745104127CGcriteria provided, single submitterClinGen:CA16043429
DeletionNM_031443.4(CCM2):c.122del (p.Pro41fs)CCM2Pathogenic74507794145077941GCGcriteria provided, single submitterClinGen:CA16603185
single nucleotide variantNM_194454.3(KRIT1):c.486-2A>GKRIT1Pathogenic79186496291864962TCcriteria provided, multiple submitters, no conflictsClinGen:CA16605155
DeletionNM_194454.3(KRIT1):c.1959_1960del (p.His653fs)KRIT1Pathogenic79184257491842575TTATcriteria provided, multiple submitters, no conflictsClinGen:CA16618570
DuplicationNM_194454.3(KRIT1):c.1762dup (p.Thr588fs)KRIT1Pathogenic79184326191843262GGTcriteria provided, single submitterClinGen:CA16618571