Knowledge base for genomic medicine in Japanese
家族性副甲状腺機能亢進症 (MEN以外)
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000388.4(CASR):c.662C>T (p.Pro221Leu)CASRPathogenic3121980544121980544CTcriteria provided, single submitterOMIM Allelic Variant:601199.0052
single nucleotide variantNM_024529.4(CDC73):c.162C>G (p.Tyr54Ter)CDC73Pathogenic1193094272193094272CGcriteria provided, single submitterOMIM Allelic Variant:607393.0008
single nucleotide variantNM_024529.4(CDC73):c.131+1G>ACDC73Pathogenic1193091462193091462GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:607393.0010
single nucleotide variantNM_000388.4(CASR):c.2383C>T (p.Arg795Trp)CASRPathogenic/Likely pathogenic3122003184122003184CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601199.0001
single nucleotide variantNM_000388.4(CASR):c.889G>A (p.Glu297Lys)CASRPathogenic3121980771121980771GAcriteria provided, single submitterOMIM Allelic Variant:601199.0002
single nucleotide variantNM_000388.4(CASR):c.554G>A (p.Arg185Gln)CASRPathogenic3121980436121980436GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601199.0003
single nucleotide variantNM_000388.4(CASR):c.380A>C (p.Glu127Ala)CASRPathogenic3121976122121976122ACcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601199.0004
single nucleotide variantNM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)CASRPathogenic3122002546122002546GAcriteria provided, single submitterOMIM Allelic Variant:601199.0007
single nucleotide variantNM_000388.4(CASR):c.680G>A (p.Arg227Gln)CASRPathogenic3121980562121980562GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601199.0022,OMIM Allelic Variant:601199.0049
single nucleotide variantNM_000388.4(CASR):c.413C>T (p.Thr138Met)CASRLikely pathogenic3121976155121976155CTcriteria provided, single submitterOMIM Allelic Variant:601199.0023