Knowledge base for genomic medicine in Japanese
PALB2変異陽性乳がん・膵臓がん
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
IndelNM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs)PALB2Pathogenic162363279523632797TGCGTcriteria provided, single submitter-
DeletionNM_024675.4(PALB2):c.2838_2842del (p.Cys949fs)PALB2Pathogenic162363444423634448AACAATAcriteria provided, multiple submitters, no conflicts-
DeletionNM_024675.4(PALB2):c.2773del (p.Val925fs)PALB2Pathogenic162363539123635391ACAcriteria provided, single submitter-
single nucleotide variantNM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)PALB2Pathogenic/Likely pathogenic162364054523640545GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_024675.4(PALB2):c.2560_2561del (p.Asn854fs)PALB2Pathogenic162364055023640551GTTGcriteria provided, single submitter-
single nucleotide variantNM_024675.4(PALB2):c.2422G>T (p.Gly808Ter)PALB2Pathogenic162364105323641053CAcriteria provided, single submitter-
DeletionNM_024675.4(PALB2):c.2298_2301del (p.Cys768fs)PALB2Pathogenic162364117423641177AGACTAcriteria provided, multiple submitters, no conflicts-
DeletionNM_024675.4(PALB2):c.2295del (p.Ser766fs)PALB2Pathogenic162364118023641180AGAcriteria provided, single submitter-
InsertionNM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)PALB2Pathogenic162364128923641290GGTcriteria provided, multiple submitters, no conflicts-
DeletionNM_024675.4(PALB2):c.1965del (p.Pro656fs)PALB2Pathogenic162364151023641510GAGcriteria provided, multiple submitters, no conflicts-