Knowledge base for genomic medicine in Japanese
多発性内分泌腫瘍症1型、2A・2B型/甲状腺髄様がん
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_020630.4(RET):c.1852T>G (p.Cys618Gly)RETPathogenic104360909643609096TGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:164761.0001,UniProtKB (protein):P07949#VAR_006310
single nucleotide variantNM_020975.4(RET):c.1900T>G (p.Cys634Gly)RETPathogenic104360994843609948TGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:164761.0003,UniProtKB (protein):P07949#VAR_006323
single nucleotide variantNM_020975.4(RET):c.1901G>A (p.Cys634Tyr)RETPathogenic104360994943609949GAno interpretation for the single variantOMIM Allelic Variant:164761.0004,UniProtKB (protein):P07949#VAR_006325
single nucleotide variantNM_020975.4(RET):c.1901G>C (p.Cys634Ser)RETPathogenic104360994943609949GCno interpretation for the single variantOMIM Allelic Variant:164761.0005,UniProtKB (protein):P07949#VAR_006327
single nucleotide variantNM_020975.4(RET):c.1901G>T (p.Cys634Phe)RETPathogenic104360994943609949GTcriteria provided, single submitterOMIM Allelic Variant:164761.0006,UniProtKB (protein):P07949#VAR_006324
single nucleotide variantNM_020975.4(RET):c.1853G>C (p.Cys618Ser)RETPathogenic104360909743609097GCno interpretation for the single variantHGMD:CM941229,OMIM Allelic Variant:164761.0008,UniProtKB (protein):P07949#VAR_006313
single nucleotide variantNM_020975.6(RET):c.1858T>C (p.Cys620Arg)RETPathogenic104360910243609102TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:164761.0009,UniProtKB (protein):P07949#VAR_006316
single nucleotide variantNM_020975.5(RET):c.1859G>A (p.Cys620Tyr)RETPathogenic104360910343609103GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:164761.0010,UniProtKB (protein):P07949#VAR_006319
single nucleotide variantNM_020975.5(RET):c.1900T>C (p.Cys634Arg)RETPathogenic104360994843609948TCno interpretation for the single variantHGMD:CM930644,OMIM Allelic Variant:164761.0002,OMIM Allelic Variant:164761.0011,UniProtKB (protein):P07949#VAR_006326
single nucleotide variantNM_020975.4(RET):c.1902C>G (p.Cys634Trp)RETPathogenic104360995043609950CGno interpretation for the single variantOMIM Allelic Variant:164761.0012,UniProtKB (protein):P07949#VAR_006328