Knowledge base for genomic medicine in Japanese
先天性筋無力症候群
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000080.4(CHRNE):c.1319_1326+15delCHRNEPathogenic/Likely pathogenic1748022814802303CTGGCTCCTGTCCCACCTCGCCGGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000080.4(CHRNE):c.235-2A>GCHRNELikely pathogenic1748056234805623TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000747.3(CHRNB1):c.354-1G>ACHRNB1Likely pathogenic1773503617350361GAcriteria provided, single submitter-
single nucleotide variantNM_130811.4(SNAP25):c.142G>T (p.Val48Phe)SNAP25Likely pathogenic201026539910265399GTcriteria provided, multiple submitters, no conflictsClinGen:CA204648
single nucleotide variantNM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)SNAP25Pathogenic201027384510273845TAcriteria provided, single submitterClinGen:CA10586162,UniProtKB:P60880#VAR_073698,OMIM:600322.0001
single nucleotide variantNM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly)SLC25A1Likely pathogenic221916373519163735GCcriteria provided, single submitterClinGen:CA130978,UniProtKB:P53007#VAR_069496,OMIM:190315.0001
single nucleotide variantNM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)SLC25A1Pathogenic/Likely pathogenic221916373519163735GAcriteria provided, multiple submitters, no conflictsClinGen:CA130979,UniProtKB:P53007#VAR_069495,OMIM:190315.0002
single nucleotide variantNM_005984.5(SLC25A1):c.821C>T (p.Ala274Val)SLC25A1Likely pathogenic221916393419163934GAcriteria provided, single submitterClinGen:CA130984,OMIM:190315.0005
DeletionNM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)SLC25A1Pathogenic/Likely pathogenic221916463319164642CCTTGTTCCCGCcriteria provided, multiple submitters, no conflictsClinGen:CA130986,OMIM:190315.0006
IndelNM_005984.5(SLC25A1):c.657_665delinsGACCTC (p.Asn219_Ile222delinsLysThrSer)SLC25A1Likely pathogenic221916417319164181ATCAGAGGGGAGGTCcriteria provided, single submitterClinGen:CA16621035