Knowledge base for genomic medicine in Japanese
遺伝性フルクトース不耐症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000035.4(ALDOB):c.-11+1G>CALDOBPathogenic/Likely pathogenic9104197990104197990CGcriteria provided, multiple submitters, no conflictsClinGen:CA196959550
single nucleotide variantNM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)ALDOBPathogenic/Likely pathogenic9104193160104193160GAcriteria provided, multiple submitters, no conflictsClinGen:CA114310,OMIM:612724.0008
DeletionNM_000035.4(ALDOB):c.112+1delALDOBLikely pathogenic9104193057104193057ACAcriteria provided, single submitterClinGen:CA16041289
DeletionNM_000035.4(ALDOB):c.113-1_115delALDOBPathogenic/Likely pathogenic9104192246104192249GTACCGcriteria provided, multiple submitters, no conflictsClinGen:CA199107
single nucleotide variantNM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)ALDOBPathogenic/Likely pathogenic9104192183104192183GAcriteria provided, multiple submitters, no conflictsClinGen:CA339813,OMIM:612724.0009
DeletionNM_000035.4(ALDOB):c.287del (p.Asn96fs)ALDOBLikely pathogenic9104192074104192074GTGcriteria provided, single submitter-
DeletionNM_000035.4(ALDOB):c.302del (p.Lys101fs)ALDOBPathogenic9104192059104192059CTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000035.4(ALDOB):c.324G>A (p.Lys108=)ALDOBPathogenic/Likely pathogenic9104192037104192037CTcriteria provided, multiple submitters, no conflictsClinGen:CA199056
single nucleotide variantNM_000035.4(ALDOB):c.324+1G>AALDOBPathogenic9104192036104192036CTcriteria provided, multiple submitters, no conflictsClinGen:CA347812
single nucleotide variantNM_000035.4(ALDOB):c.324+2T>AALDOBPathogenic/Likely pathogenic9104192035104192035ATcriteria provided, multiple submitters, no conflictsClinGen:CA16041288