Knowledge base for genomic medicine in Japanese
脊髄性筋萎縮症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)IGHMBP2Pathogenic/Likely pathogenic116870133268701332CAcriteria provided, multiple submitters, no conflictsClinGen:CA6153662
single nucleotide variantNM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu)IGHMBP2Likely pathogenic116869678368696783CAcriteria provided, single submitterClinGen:CA10584086
DeletionNM_002180.3(IGHMBP2):c.1346del (p.Met449fs)IGHMBP2Pathogenic116870087768700877ATAcriteria provided, single submitterClinGen:CA10584087
single nucleotide variantNM_002180.3(IGHMBP2):c.1060+2T>CIGHMBP2Pathogenic116868535368685353TCcriteria provided, single submitterClinGen:CA10584388
single nucleotide variantNM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)IGHMBP2Pathogenic116869667268696672TCcriteria provided, multiple submitters, no conflictsClinGen:CA6153517,UniProtKB:P38935#VAR_022326
single nucleotide variantNM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)IGHMBP2Pathogenic/Likely pathogenic116870287168702871CAcriteria provided, multiple submitters, no conflictsClinGen:CA10584390
IndelNM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs)IGHMBP2Pathogenic116870414568704151ATAGTGGCAcriteria provided, single submitterClinGen:CA10604071
single nucleotide variantNM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)IGHMBP2Pathogenic116870450868704508CTcriteria provided, multiple submitters, no conflictsClinGen:CA6153941
single nucleotide variantNM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)IGHMBP2Likely pathogenic116868535168685351GAcriteria provided, multiple submitters, no conflictsClinGen:CA10605930
DeletionNM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)IGHMBP2Pathogenic116870454568704546AAGAcriteria provided, multiple submitters, no conflictsClinGen:CA10605931