Knowledge base for genomic medicine in Japanese
シスチノーシス
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_004937.3(CTNS):c.696dup (p.Val233fs)CTNSPathogenic1735613123561313GGCcriteria provided, single submitterClinGen:CA342079
DeletionNM_004937.3(CTNS):c.559_561+24delCTNSPathogenic/Likely pathogenic1735598673559893GTGCCCTACATCAAGGTACGGCCTTGCCGcriteria provided, multiple submitters, no conflictsClinGen:CA342080
DeletionNM_004937.3(CTNS):c.18_21del (p.Thr7fs)CTNSPathogenic1735435163543519GCTGAGcriteria provided, multiple submitters, no conflictsClinGen:CA278471,OMIM:606272.0004
DeletionNM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)CTNSLikely pathogenic1735521993552219TATTACTATCCTTGAGCTCCCCTcriteria provided, single submitterClinGen:CA278477
IndelNM_004937.3(CTNS):c.225+5_225+6delinsCCCTNSLikely pathogenic1735522303552231GTCCcriteria provided, single submitterClinGen:CA278476
DuplicationNM_004937.3(CTNS):c.292dup (p.Thr98fs)CTNSLikely pathogenic1735583573558358TTAcriteria provided, single submitterClinGen:CA278469
DeletionNM_004937.3(CTNS):c.561+1delCTNSPathogenic/Likely pathogenic1735598803559880AGAcriteria provided, multiple submitters, no conflictsClinGen:CA278484
DeletionNM_004937.3(CTNS):c.809_811del (p.Ser270del)CTNSLikely pathogenic1735614243561426TCTCTcriteria provided, single submitterClinGen:CA278481
DuplicationNM_004937.3(CTNS):c.926dup (p.Ser310fs)CTNSPathogenic/Likely pathogenic1735632203563221CCGcriteria provided, multiple submitters, no conflictsClinGen:CA278465
DeletionNM_004937.3(CTNS):c.323del (p.Gln108fs)CTNSLikely pathogenic1735583893558389CACcriteria provided, single submitterClinGen:CA10586235