Knowledge base for genomic medicine in Japanese
動脈蛇行症候群
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
deletionNM_030777.4(SLC2A10):c.1334del (p.Gly445fs)SLC2A10Pathogenic204535554745355547AGAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606145.0003
single nucleotide variantNM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)SLC2A10Pathogenic/Likely pathogenic204535391845353918CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606145.0004,UniProtKB (protein):O95528#VAR_029535
single nucleotide variantNM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)SLC2A10Pathogenic/Likely pathogenic204535495145354951GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606145.0005,UniProtKB (protein):O95528#VAR_042422
single nucleotide variantNM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)SLC2A10Pathogenic204535436045354360CTcriteria provided, multiple submitters, no conflicts-
deletionNM_030777.4(SLC2A10):c.731_734del (p.Leu244fs)SLC2A10Pathogenic204535440345354406CAACTCcriteria provided, single submitter-
single nucleotide variantNM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)SLC2A10Pathogenic/Likely pathogenic204535554445355544CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_030777.4(SLC2A10):c.1411+2T>ASLC2A10Likely pathogenic204535562745355627TAcriteria provided, single submitter-
single nucleotide variantNM_030777.4(SLC2A10):c.712C>G (p.Leu238Val)SLC2A10Likely pathogenic204535438745354387CGcriteria provided, single submitter-
indelNM_030777.4(SLC2A10):c.1278_1287delinsCC (p.Phe427fs)SLC2A10Pathogenic204535495345354962GTTTGGGCCACCcriteria provided, single submitter-
single nucleotide variantNM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)SLC2A10Pathogenic204535432345354323CGcriteria provided, single submitter-