Knowledge base for genomic medicine in Japanese
家族性膵がん
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_024675.4(PALB2):c.2514+1G>CPALB2Likely pathogenic162364096023640960CGcriteria provided, multiple submitters, no conflictsClinGen:CA10588607
single nucleotide variantNM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)PALB2Pathogenic/Likely pathogenic162364110723641107GAcriteria provided, multiple submitters, no conflictsClinGen:CA10588608
DeletionNM_024675.4(PALB2):c.1650del (p.Lys550fs)PALB2Likely pathogenic162364621723646217ATAcriteria provided, single submitterClinGen:CA10588609
single nucleotide variantNM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)PALB2Pathogenic/Likely pathogenic162364637123646371ATcriteria provided, multiple submitters, no conflictsClinGen:CA10588610
single nucleotide variantNM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)PALB2Pathogenic/Likely pathogenic162364644323646443GCcriteria provided, multiple submitters, no conflictsClinGen:CA10588611
DeletionNM_024675.4(PALB2):c.1048del (p.Gln350fs)PALB2Likely pathogenic162364681923646819TGTcriteria provided, single submitterClinGen:CA10588612
DeletionNM_024675.4(PALB2):c.544del (p.Ile182fs)PALB2Pathogenic162364732323647323ATAcriteria provided, multiple submitters, no conflictsClinGen:CA10588613
single nucleotide variantNM_024675.4(PALB2):c.421C>T (p.Gln141Ter)PALB2Likely pathogenic162364744623647446GAcriteria provided, single submitterClinGen:CA10588614
single nucleotide variantNM_024675.4(PALB2):c.178C>T (p.Gln60Ter)PALB2Pathogenic/Likely pathogenic162364920423649204GAcriteria provided, multiple submitters, no conflictsClinGen:CA10588615
DeletionNM_007294.4(BRCA1):c.5569del (p.Gln1857fs)BRCA1Likely pathogenic174119771841197718TGTcriteria provided, multiple submitters, no conflictsClinGen:CA10588652