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_194454.3(KRIT1):c.418C>T (p.Arg140Ter)KRIT1Pathogenic79186579491865794GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_194454.3(KRIT1):c.363_369del (p.Lys122fs)KRIT1Likely pathogenic79186584391865849TGTATTTATcriteria provided, single submitter-
single nucleotide variantNM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)KRIT1Pathogenic79186706891867068GAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_194454.3(KRIT1):c.249_250dup (p.Gln84fs)KRIT1Likely pathogenic79187031891870319TTGGcriteria provided, single submitter-
DeletionNM_194454.3(KRIT1):c.141_145del (p.Arg49fs)KRIT1Likely pathogenic79187042491870428CTCTTTCcriteria provided, multiple submitters, no conflicts-
DeletionNM_031443.4(CCM2):c.71del (p.Gly24fs)CCM2Pathogenic74507789145077891AGAcriteria provided, multiple submitters, no conflicts-
DeletionNM_194454.3(KRIT1):c.1775del (p.Ser592fs)KRIT1Pathogenic79184324991843249ACAcriteria provided, single submitter-
single nucleotide variantNM_194454.3(KRIT1):c.489G>A (p.Trp163Ter)KRIT1Likely pathogenic79186495791864957CTcriteria provided, single submitter-
single nucleotide variantNM_007217.4(PDCD10):c.394A>T (p.Lys132Ter)PDCD10Pathogenic3167413385167413385TAcriteria provided, single submitter-
DuplicationNM_031443.4(CCM2):c.402_405dup (p.Ile136fs)CCM2Pathogenic74510417445104175TTGCCCcriteria provided, single submitter-