Knowledge base for genomic medicine in Japanese
ポリメラーゼ校正関連ポリポーシス
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
short repeatNM_002691.4(POLD1):c.1809_1811CTC[1] (p.Ser605del)POLD1Pathogenic195091207550912077TCTCTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:174761.0003
single nucleotide variantNM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)POLD1Pathogenic/Likely pathogenic195090970150909701TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:174761.0004,UniProtKB (protein):P28340#VAR_071966
single nucleotide variantNM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)POLD1Pathogenic/Likely pathogenic195090971350909713GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:174761.0001,UniProtKB (protein):P28340#VAR_069335
single nucleotide variantNM_006231.3(POLE):c.1270C>G (p.Leu424Val)POLEPathogenic12133250250133250250GCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:174762.0001,UniProtKB (protein):Q07864#VAR_069344
single nucleotide variantNM_006231.3(POLE):c.1089C>G (p.Asn363Lys)POLELikely pathogenic12133252338133252338GCcriteria provided, single submitter-
single nucleotide variantNM_006231.3(POLE):c.5867A>T (p.Glu1956Val)POLELikely pathogenic12133210909133210909TAcriteria provided, single submitter-