Knowledge base for genomic medicine in Japanese
副腎白質ジストロフィー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000033.4(ABCD1):c.1850G>A (p.Arg617His)ABCD1PathogenicX153008510153008510GAcriteria provided, multiple submitters, no conflictsClinGen:CA278116,UniProtKB:P33897#VAR_000085,OMIM:300371.0021
single nucleotide variantNM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)ABCD1Pathogenic/Likely pathogenicX153008509153008509CTcriteria provided, multiple submitters, no conflictsClinGen:CA278117,UniProtKB:P33897#VAR_000083,OMIM:300371.0022
DeletionNM_000033.4(ABCD1):c.-16_10del (p.Met1fs)ABCD1PathogenicX152990704152990729GGCAGCCAGCCCAGGTGACATGCCGGTGcriteria provided, single submitterClinGen:CA278121,OMIM:300371.0026
DuplicationNM_000033.4(ABCD1):c.1366dup (p.Arg456fs)ABCD1Pathogenic/Likely pathogenicX153001938153001939TTCcriteria provided, multiple submitters, no conflictsClinGen:CA278374
single nucleotide variantNM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)ABCD1Likely pathogenicX153005649153005649TCcriteria provided, single submitterClinGen:CA278375
single nucleotide variantNM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)ABCD1PathogenicX152991142152991142GAcriteria provided, multiple submitters, no conflictsClinGen:CA278381,UniProtKB:P33897#VAR_000033
single nucleotide variantNM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)ABCD1Pathogenic/Likely pathogenicX152991559152991559CTcriteria provided, multiple submitters, no conflictsClinGen:CA278382,UniProtKB:P33897#VAR_013347
single nucleotide variantNM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)ABCD1PathogenicX153002613153002613CTcriteria provided, multiple submitters, no conflictsClinGen:CA278401
single nucleotide variantNM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)ABCD1PathogenicX153005610153005610GAcriteria provided, multiple submitters, no conflictsClinGen:CA278403,UniProtKB:P33897#VAR_000070
single nucleotide variantNM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp)ABCD1Likely pathogenicX153005643153005643GAcriteria provided, single submitterClinGen:CA278404