Knowledge base for genomic medicine in Japanese
基底細胞母斑症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000010.11:g.(?_102593630)_(102597299_?)delSUFUPathogenic10104353387104357056nanacriteria provided, single submitter-
DuplicationNM_000264.5(PTCH1):c.1135dup (p.Tyr379fs)PTCH1Pathogenic99824136198241362TTAcriteria provided, single submitterClinGen:CA658797234
single nucleotide variantNM_000264.5(PTCH1):c.767G>A (p.Trp256Ter)PTCH1Pathogenic99824285098242850CTcriteria provided, single submitterClinGen:CA374114539
DeletionNM_000264.5(PTCH1):c.1885del (p.Ala629fs)PTCH1Pathogenic99823139898231398GCGcriteria provided, single submitterClinGen:CA658797239
DuplicationNM_000264.5(PTCH1):c.1651dup (p.Thr551fs)PTCH1Pathogenic99823839298238393GGTcriteria provided, single submitterClinGen:CA658797240
DeletionNM_000264.5(PTCH1):c.741_746+1delPTCH1Likely pathogenic99824423098244236ACAGGAGGAcriteria provided, single submitterClinGen:CA658797235
DeletionNM_000264.5(PTCH1):c.615del (p.Lys205fs)PTCH1Pathogenic99824445598244455ATAcriteria provided, single submitterClinGen:CA658797237
single nucleotide variantNM_000264.5(PTCH1):c.433C>T (p.Gln145Ter)PTCH1Pathogenic99824811898248118GAcriteria provided, single submitterClinGen:CA374117210
DeletionNM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer)PTCH1Pathogenic99826880498268804TGTcriteria provided, multiple submitters, no conflictsClinGen:CA658797247
DeletionNM_000264.5(PTCH1):c.202-16_227delPTCH1Pathogenic99826885698268897CGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGACcriteria provided, single submitterClinGen:CA658797250