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)
DeletionNC_000016.10:g.(?_23634852)_(23641167_?)delPALB2Pathogenic162364617323652488nanacriteria provided, single submitter-
DeletionNC_000016.10:g.(?_23603449)_(23614101_?)delPALB2Pathogenic162361477023625422nanacriteria provided, single submitter-
single nucleotide variantNM_024675.4(PALB2):c.211+1G>TPALB2Pathogenic/Likely pathogenic162364917023649170CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_024675.4(PALB2):c.3113+5G>APALB2Likely pathogenic162363267823632678CTcriteria provided, multiple submitters, no conflicts-
DeletionNC_000016.10:g.(?_23613994)_(23624104_?)delPALB2Likely pathogenic162362531523635425nanacriteria provided, single submitter-
DeletionNM_001407299.1(PALB2):c.3113+7271delPALB2Pathogenic162362541223625412TCTcriteria provided, single submitter-
DeletionNC_000016.10:g.(?_23637840)_(23641167_?)delPALB2Pathogenic162364916123652488nanacriteria provided, single submitter-
DeletionNC_000016.10:g.(?_23634852)_(23638139_?)delPALB2Pathogenic162364617323649460nanacriteria provided, single submitter-
DeletionNC_000016.10:g.(?_23621352)_(23636344_?)delPALB2Pathogenic162363267323647665nanacriteria provided, single submitter-
DeletionNM_024675.4(PALB2):c.76del (p.Arg26fs)PALB2Pathogenic/Likely pathogenic162364942323649423CTCcriteria provided, multiple submitters, no conflicts-