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)
DeletionNM_001378609.3(OTOGL):c.841_842del (p.Met281fs)OTOGLPathogenic/Likely pathogenic128063265380632654CTACcriteria provided, multiple submitters, no conflictsClinGen:CA6700284
DeletionNM_001378609.3(OTOGL):c.975del (p.Leu325fs)OTOGLPathogenic/Likely pathogenic128063314280633142TGTcriteria provided, multiple submitters, no conflictsClinGen:CA6700335
single nucleotide variantNM_001378609.3(OTOGL):c.5014C>T (p.Arg1672Ter)OTOGLPathogenic128073300880733008CTcriteria provided, multiple submitters, no conflictsClinGen:CA6701569
DeletionNM_004004.6(GJB2):c.523_533del (p.Pro175fs)GJB2Pathogenic132076318820763198CACAGTGTTGGGCcriteria provided, multiple submitters, no conflictsClinGen:CA10576936
DeletionNM_153700.2(STRC):c.(?_4443)_(4845_?)-68delSTRCPathogenic154389294843895542nanacriteria provided, single submitter-
single nucleotide variantNM_153700.2(STRC):c.3493C>T (p.Gln1165Ter)STRCPathogenic154390251543902515GAcriteria provided, single submitterClinGen:CA10576977
single nucleotide variantNM_153700.2(STRC):c.3217C>T (p.Arg1073Ter)STRCPathogenic154390343543903435GAcriteria provided, multiple submitters, no conflictsClinGen:CA10576979
single nucleotide variantNM_153700.2(STRC):c.1086C>A (p.Tyr362Ter)STRCPathogenic154390867843908678GTcriteria provided, single submitterClinGen:CA10576984
IndelNM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs)OTOAPathogenic/Likely pathogenic162170910221709107CTGCTTAcriteria provided, multiple submitters, no conflictsClinGen:CA10577003
DuplicationNM_016239.4(MYO15A):c.1185dup (p.Glu396fs)MYO15APathogenic171802329218023293AACcriteria provided, multiple submitters, no conflictsClinGen:CA8423043,ClinVar:800645