Knowledge base for genomic medicine in Japanese
遺伝性難聴
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_006005.3(WFS1):c.873C>G (p.Tyr291Ter)WFS1Pathogenic463023956302395CGcriteria provided, single submitterClinGen:CA276989
single nucleotide variantNM_006005.3(WFS1):c.2369C>A (p.Ser790Ter)WFS1Pathogenic463038916303891CAcriteria provided, single submitterClinGen:CA277064
DeletionNM_004004.6(GJB2):c.314_329del (p.Lys105fs)GJB2Pathogenic132076339220763407CTCCCCCTTGATGAACTCcriteria provided, single submitterClinGen:CA277273
single nucleotide variantNM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)STRCPathogenic/Likely pathogenic154389621843896218GAcriteria provided, multiple submitters, no conflictsClinGen:CA277233
single nucleotide variantNM_033109.5(PNPT1):c.2014-3C>GPNPT1Likely pathogenic25587035155870351GCcriteria provided, single submitterOMIM:610316.0011
single nucleotide variantNM_033109.5(PNPT1):c.1453A>G (p.Met485Val)PNPT1Likely pathogenic25588207755882077TCcriteria provided, single submitterClinGen:CA320114,OMIM:610316.0016
single nucleotide variantNM_033109.5(PNPT1):c.394C>T (p.Arg132Ter)PNPT1Pathogenic/Likely pathogenic25591208755912087GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_006005.3(WFS1):c.505G>A (p.Glu169Lys)WFS1Pathogenic/Likely pathogenic462929686292968GAcriteria provided, multiple submitters, no conflictsClinGen:CA321089,UniProtKB:O76024#VAR_009109
single nucleotide variantNM_006005.3(WFS1):c.631G>A (p.Asp211Asn)WFS1Pathogenic/Likely pathogenic462930946293094GAcriteria provided, multiple submitters, no conflictsClinGen:CA320894
DeletionNM_006005.3(WFS1):c.1243_1245del (p.Val415del)WFS1Pathogenic463027636302765TTCGTcriteria provided, multiple submitters, no conflictsClinGen:CA324375,OMIM:606201.0029