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_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)PALB2Pathogenic/Likely pathogenic162364621423646214ATcriteria provided, multiple submitters, no conflictsClinGen:CA251717,OMIM:610355.0001
single nucleotide variantNM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)PALB2Pathogenic/Likely pathogenic162361479223614792GCcriteria provided, multiple submitters, no conflictsClinGen:CA151250,OMIM:610355.0003
single nucleotide variantNM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)PALB2Pathogenic162363432423634324GAcriteria provided, multiple submitters, no conflictsClinGen:CA164468,OMIM:610355.0004
single nucleotide variantNM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)PALB2Pathogenic162364684023646840GAcriteria provided, multiple submitters, no conflictsClinGen:CA151215,OMIM:610355.0011
DeletionNM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)PALB2Pathogenic162364681423646817CTGTTCcriteria provided, multiple submitters, no conflictsClinGen:CA151218
DeletionNM_024675.4(PALB2):c.1317del (p.Phe440fs)PALB2Pathogenic162364655023646550ACAcriteria provided, multiple submitters, no conflictsClinGen:CA294076
DeletionNM_024675.4(PALB2):c.1479del (p.Thr494fs)PALB2Pathogenic162364638823646388TGTcriteria provided, multiple submitters, no conflictsClinGen:CA165295
DeletionNM_024675.4(PALB2):c.1592del (p.Leu531fs)PALB2Pathogenic162364627523646275CACreviewed by expert panelClinGen:CA250432,OMIM:610355.0006
single nucleotide variantNM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)PALB2Pathogenic162364623423646234CAcriteria provided, multiple submitters, no conflictsClinGen:CA167823
IndelNM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)PALB2Pathogenic162364619023646191TTCcriteria provided, multiple submitters, no conflictsClinGen:CA269504