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)
DeletionNM_024675.4(PALB2):c.1551_1552del (p.Lys517fs)PALB2Pathogenic162364631523646316GATGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_024675.4(PALB2):c.613G>T (p.Glu205Ter)PALB2Likely pathogenic162364725423647254CAcriteria provided, multiple submitters, no conflicts-
IndelNM_024675.3(PALB2):c.3249_3253delinsAGCC (p.Ser1084fs)PALB2Pathogenic162361928223619286ACGACGGCTcriteria provided, single submitter-
DeletionNM_024675.4(PALB2):c.3085_3092del (p.Thr1029fs)PALB2Pathogenic162363270423632711AATAGTAGTAcriteria provided, single submitter-
single nucleotide variantNM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)PALB2Pathogenic162363442023634420CAcriteria provided, multiple submitters, no conflicts-
DeletionNM_024675.4(PALB2):c.2816_2823del (p.Asn938_Leu939insTer)PALB2Pathogenic162363534123635348TGATTTCCATcriteria provided, single submitter-
IndelNM_024675.3(PALB2):c.2223_2224delinsG (p.Ser742fs)PALB2Pathogenic162364125123641252AGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)PALB2Pathogenic162364633123646331GTcriteria provided, multiple submitters, no conflicts-
DeletionNM_024675.4(PALB2):c.1179del (p.Lys393fs)PALB2Pathogenic162364668823646688GTGcriteria provided, single submitter-
DeletionNM_024675.4(PALB2):c.682del (p.Gln228fs)PALB2Pathogenic162364718523647185TGTcriteria provided, multiple submitters, no conflicts-