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)
DeletionNM_000059.4(BRCA2):c.6481_6484del (p.Asp2161fs)BRCA2Pathogenic133291497232914975AAGACAreviewed by expert panelClinGen:CA10588566
DeletionNM_000059.4(BRCA2):c.6727del (p.Ser2243fs)BRCA2Pathogenic133291521832915218ATAreviewed by expert panelClinGen:CA10588567
IndelNM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs)BRCA2Pathogenic133292920032929206AAAGTCTTGTAGreviewed by expert panelClinGen:CA10588568
DeletionNM_024675.4(PALB2):c.3295_3301del (p.Thr1099fs)PALB2Likely pathogenic162361923423619240AGAGTCGTAcriteria provided, single submitterClinGen:CA10588599
single nucleotide variantNM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)PALB2Pathogenic/Likely pathogenic162361930123619301ATcriteria provided, multiple submitters, no conflictsClinGen:CA10588601
single nucleotide variantNM_024675.4(PALB2):c.3114-1G>APALB2Likely pathogenic162362541323625413CTcriteria provided, multiple submitters, no conflictsClinGen:CA10588602
DeletionNM_024675.4(PALB2):c.3041_3042del (p.Leu1014fs)PALB2Likely pathogenic162363275423632755TTATcriteria provided, single submitterClinGen:CA10588603
DeletionNM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)PALB2Pathogenic/Likely pathogenic162363277923632779CACcriteria provided, multiple submitters, no conflictsClinGen:CA10588604
single nucleotide variantNM_024675.4(PALB2):c.2996+1G>TPALB2Likely pathogenic162363428923634289CAcriteria provided, multiple submitters, no conflictsClinGen:CA10588605
single nucleotide variantNM_024675.4(PALB2):c.2835-2A>CPALB2Likely pathogenic162363445323634453TGcriteria provided, single submitterClinGen:CA10588606