Knowledge base for genomic medicine in Japanese
ロイス・ディーツ症候群
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)TGFBR2Likely pathogenic33072997430729974GTcriteria provided, single submitter-
single nucleotide variantNM_003239.4(TGFB3):c.899G>A (p.Arg300Gln)TGFB3Pathogenic/Likely pathogenic147642968676429686CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:190230.0004
single nucleotide variantNM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln)TGFBR2Pathogenic33073296330732963GCcriteria provided, single submitterOMIM Allelic Variant:190182.0003,UniProtKB (protein):P37173#VAR_015816
single nucleotide variantNM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)TGFBR2Pathogenic33073000330730003GAcriteria provided, single submitterOMIM Allelic Variant:190182.0004
single nucleotide variantNM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)TGFBR2Pathogenic33073299630732996CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:190182.0007,UniProtKB (protein):P37173#VAR_022362
single nucleotide variantNM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)TGFBR2Likely pathogenic33071373830713738GCcriteria provided, single submitterOMIM Allelic Variant:190182.0009,UniProtKB (protein):P37173#VAR_022353
single nucleotide variantNM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)TGFBR2Pathogenic33073297030732970GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:190182.0011,UniProtKB (protein):P37173#VAR_022361
single nucleotide variantNM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)TGFBR2Pathogenic33073296930732969CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:190182.0012,UniProtKB (protein):P37173#VAR_022360
single nucleotide variantNM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)TGFBR2Pathogenic33071572030715720CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:190182.0014,UniProtKB (protein):P37173#VAR_029760
single nucleotide variantNM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)TGFBR2Pathogenic33071572130715721GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:190182.0015,UniProtKB (protein):P37173#VAR_029761