Knowledge base for genomic medicine in Japanese
ロスムンド・トムソン症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
deletionNM_004260.3(RECQL4):c.1390+2delRECQL4Pathogenic8145740708145740708CACcriteria provided, single submitter-
single nucleotide variantNM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu)RECQL4Likely pathogenic8145740620145740620GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004260.3(RECQL4):c.2059-1G>ARECQL4Pathogenic8145739097145739097CTcriteria provided, single submitter-
single nucleotide variantNM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter)RECQL4Pathogenic8145738509145738509GAcriteria provided, multiple submitters, no conflictsHGMD:CM033809
deletionNM_004260.3(RECQL4):c.3072del (p.Val1026fs)RECQL4Pathogenic8145737691145737691CTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004260.3(RECQL4):c.2464-1G>CRECQL4Pathogenic8145738522145738522CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter)RECQL4Pathogenic8145738796145738796GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603780.0002
deletionNM_004260.3(RECQL4):c.2492_2493del (p.His831fs)RECQL4Pathogenic/Likely pathogenic8145738492145738493CATCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603780.0003
deletionNM_004260.3(RECQL4):c.1573del (p.Cys525fs)RECQL4Pathogenic8145740367145740367CACcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603780.0005
single nucleotide variantNM_004260.3(RECQL4):c.1391-1G>ARECQL4Pathogenic8145740627145740627CTcriteria provided, single submitterOMIM Allelic Variant:603780.0006