Knowledge base for genomic medicine in Japanese
ロスムンド・トムソン症候群
腫瘍性疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_004260.4(RECQL4):c.315C>G (p.Tyr105Ter)RECQL4Pathogenic8145742473145742473GCcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.118+2T>CRECQL4Likely pathogenic8145742984145742984AGcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.3393+2T>GRECQL4Likely pathogenic8145737292145737292ACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004260.4(RECQL4):c.3237-1G>ARECQL4Likely pathogenic8145737451145737451CTcriteria provided, single submitter-
DeletionNM_004260.4(RECQL4):c.3055+1delRECQL4Likely pathogenic8145737774145737774ACAcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.3393+1G>ARECQL4Likely pathogenic8145737293145737293CTcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.2885+1G>TRECQL4Likely pathogenic8145738024145738024CAcriteria provided, single submitter-
single nucleotide variantNM_004260.4(RECQL4):c.2755+1G>ARECQL4Pathogenic/Likely pathogenic8145738229145738229CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter)RECQL4Pathogenic/Likely pathogenic8145741414145741414GCcriteria provided, multiple submitters, no conflicts-