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_007217.4(PDCD10):c.103C>T (p.Arg35Ter)PDCD10Pathogenic3167422677167422677GAcriteria provided, multiple submitters, no conflictsClinGen:CA16042486,OMIM:609118.0001,OMIM:609118.0003
DeletionNM_007217.4(PDCD10):c.117del (p.Ala40fs)PDCD10Likely pathogenic3167422663167422663CACcriteria provided, single submitter-
single nucleotide variantNM_007217.4(PDCD10):c.150+1G>TPDCD10Likely pathogenic3167422629167422629CAcriteria provided, single submitter-
single nucleotide variantNM_007217.4(PDCD10):c.150+1G>APDCD10Pathogenic/Likely pathogenic3167422629167422629CTcriteria provided, multiple submitters, no conflictsClinGen:CA355154977
DeletionNM_007217.4(PDCD10):c.160_163del (p.Glu54fs)PDCD10Pathogenic3167414902167414905TTTTCTcriteria provided, single submitterClinGen:CA658657345
DeletionNM_007217.4(PDCD10):c.268+1delPDCD10Likely pathogenic3167414796167414796ACAcriteria provided, single submitter-
single nucleotide variantNM_007217.4(PDCD10):c.268+1G>APDCD10Pathogenic3167414796167414796CTcriteria provided, single submitterClinGen:CA355154691
single nucleotide variantNM_007217.4(PDCD10):c.269-1G>CPDCD10Likely pathogenic3167413511167413511CGcriteria provided, single submitter-
single nucleotide variantNM_007217.4(PDCD10):c.283C>T (p.Arg95Ter)PDCD10Pathogenic3167413496167413496GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_007217.4(PDCD10):c.301C>T (p.Gln101Ter)PDCD10Pathogenic3167413478167413478GAcriteria provided, single submitterClinGen:CA355154601