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_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)TECTAPathogenic/Likely pathogenic11121038844121038844CTcriteria provided, multiple submitters, no conflictsClinGen:CA254071,UniProtKB:O75443#VAR_066094,OMIM:602574.0010
single nucleotide variantNM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)KCNJ10Pathogenic/Likely pathogenic1160011728160011728GAcriteria provided, multiple submitters, no conflictsClinGen:CA118808,OMIM:602208.0002
single nucleotide variantNM_002241.5(KCNJ10):c.500C>T (p.Ala167Val)KCNJ10Pathogenic1160011823160011823GAcriteria provided, multiple submitters, no conflictsClinGen:CA118812,UniProtKB:P78508#VAR_063063,OMIM:602208.0005
single nucleotide variantNM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)KCNJ10Pathogenic/Likely pathogenic1160011434160011434GAcriteria provided, multiple submitters, no conflictsClinGen:CA118813,UniProtKB:P78508#VAR_063064,OMIM:602208.0006
single nucleotide variantNM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg)KCNJ10Likely pathogenic1160012094160012094CGcriteria provided, single submitterClinGen:CA118814,UniProtKB:P78508#VAR_063060,OMIM:602208.0007
single nucleotide variantNM_005219.5(DIAPH1):c.3661+1G>TDIAPH1Pathogenic5140903709140903709CAcriteria provided, single submitterOMIM:602121.0001
single nucleotide variantNM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)SIX1Pathogenic/Likely pathogenic146111552261115522TCcriteria provided, multiple submitters, no conflictsClinGen:CA254381,UniProtKB:Q15475#VAR_031025,OMIM:601205.0001
single nucleotide variantNM_005982.4(SIX1):c.328C>T (p.Arg110Trp)SIX1Pathogenic146111558061115580GAcriteria provided, multiple submitters, no conflictsClinGen:CA340772,UniProtKB:Q15475#VAR_031024,OMIM:601205.0002
single nucleotide variantNM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter)MYO6Pathogenic67662383676623836CTcriteria provided, single submitterClinGen:CA254505,OMIM:600970.0003
single nucleotide variantNM_004999.4(MYO6):c.737A>G (p.His246Arg)MYO6Pathogenic/Likely pathogenic67655101676551016AGcriteria provided, multiple submitters, no conflictsClinGen:CA119764,OMIM:600970.0005