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)
single nucleotide variantNM_024675.3(PALB2):c.1027C>T (p.Gln343Ter)PALB2Pathogenic162364684023646840GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:610355.0011
deletionNM_024675.3(PALB2):c.1050_1053del (p.Thr351fs)PALB2Pathogenic162364681423646817CTGTTCcriteria provided, multiple submitters, no conflicts-
short repeatNM_024675.4(PALB2):c.1054_1055GA[1] (p.Lys353fs)PALB2Pathogenic162364681023646811TTCTcriteria provided, multiple submitters, no conflicts-
deletionNM_024675.3(PALB2):c.1317del (p.Phe440fs)PALB2Pathogenic162364655023646550ACAcriteria provided, multiple submitters, no conflicts-
deletionNM_024675.3(PALB2):c.1479del (p.Thr494fs)PALB2Pathogenic162364638823646388TGTcriteria provided, multiple submitters, no conflicts-
deletionNM_024675.3(PALB2):c.1592del (p.Leu531fs)PALB2Pathogenic162364627523646275CACcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:610355.0006
single nucleotide variantNM_024675.3(PALB2):c.1633G>T (p.Glu545Ter)PALB2Pathogenic162364623423646234CAcriteria provided, multiple submitters, no conflicts-
indelNM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs)PALB2Pathogenic162364619023646191TTCcriteria provided, multiple submitters, no conflicts-
short repeatNM_024675.4(PALB2):c.168_171TTGT[1] (p.Gln60fs)PALB2Pathogenic/Likely pathogenic162364920723649210GACAAGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:610355.0007
duplicationNM_024675.3(PALB2):c.1947dup (p.Glu650fs)PALB2Pathogenic/Likely pathogenic162364152723641528CCTcriteria provided, multiple submitters, no conflicts-