Knowledge base for genomic medicine in Japanese
網膜色素変性症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter)PDE6BPathogenic4619706619706CAcriteria provided, multiple submitters, no conflictsClinGen:CA10576636
DeletionNM_000283.4(PDE6B):c.837del (p.Asp279fs)PDE6BLikely pathogenic4647766647766ACAcriteria provided, single submitter-
single nucleotide variantNM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)PDE6BPathogenic/Likely pathogenic4647902647902GTcriteria provided, multiple submitters, no conflictsClinGen:CA16621814
single nucleotide variantNM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)PDE6BPathogenic4647908647908CTcriteria provided, multiple submitters, no conflictsOMIM:180072.0001,ClinGen:CA256715
single nucleotide variantNM_000283.4(PDE6B):c.1060-1G>TPDE6BPathogenic4650033650033GTcriteria provided, multiple submitters, no conflictsClinGen:CA279322
single nucleotide variantNM_000283.4(PDE6B):c.1206C>G (p.Tyr402Ter)PDE6BLikely pathogenic4650761650761CGcriteria provided, single submitterClinGen:CA355913337
single nucleotide variantNM_000283.4(PDE6B):c.1280G>A (p.Trp427Ter)PDE6BPathogenic4651162651162GAcriteria provided, multiple submitters, no conflictsClinGen:CA355913773
single nucleotide variantNM_000283.4(PDE6B):c.1468-2A>GPDE6BLikely pathogenic4654254654254AGcriteria provided, multiple submitters, no conflictsClinGen:CA2794553
DuplicationNM_000283.4(PDE6B):c.1485dup (p.Pro496fs)PDE6BPathogenic4654270654271AAGcriteria provided, single submitterClinGen:CA645509144
DeletionNM_000283.4(PDE6B):c.1540del (p.Leu514fs)PDE6BPathogenic/Likely pathogenic4654328654328ACAcriteria provided, multiple submitters, no conflictsClinGen:CA220604