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.1807del (p.His603fs)KRIT1Pathogenic79184321791843217TGTcriteria provided, multiple submitters, no conflictsClinGen:CA10588436
single nucleotide variantNM_194454.3(KRIT1):c.1731-2A>GKRIT1Pathogenic79184329591843295TCcriteria provided, multiple submitters, no conflictsClinGen:CA10588437
single nucleotide variantNM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)KRIT1Pathogenic79185228091852280GAcriteria provided, multiple submitters, no conflictsClinGen:CA10588438
single nucleotide variantNM_194454.3(KRIT1):c.1146+1G>AKRIT1Pathogenic79185583991855839CTcriteria provided, multiple submitters, no conflictsClinGen:CA10588439
single nucleotide variantNM_194454.3(KRIT1):c.802C>T (p.Gln268Ter)KRIT1Pathogenic/Likely pathogenic79186416591864165GAcriteria provided, multiple submitters, no conflictsClinGen:CA10588440
DeletionNM_194454.3(KRIT1):c.152_155del (p.Lys51fs)KRIT1Pathogenic79187041491870417AACTTAcriteria provided, multiple submitters, no conflictsClinGen:CA10588441
DuplicationNM_007217.4(PDCD10):c.467dup (p.Asn156fs)PDCD10Pathogenic3167405409167405410GGTcriteria provided, single submitterClinGen:CA10602867
single nucleotide variantNM_031443.4(CCM2):c.214C>T (p.Gln72Ter)CCM2Pathogenic74510352645103526CTcriteria provided, multiple submitters, no conflictsClinGen:CA10602956
DeletionNM_194454.3(KRIT1):c.1192_1204del (p.Glu398fs)KRIT1Pathogenic79185508491855096TTTTGTTTGTTTTCTcriteria provided, single submitterClinGen:CA10603044
DuplicationNM_194454.3(KRIT1):c.1685dup (p.Tyr563fs)KRIT1Pathogenic79184396991843970GGAcriteria provided, single submitterClinGen:CA10603049