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_001142800.2(EYS):c.7055+1G>AEYSPathogenic/Likely pathogenic66469427564694275CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_017739.4(POMGNT1):c.652+1G>TPOMGNT1Pathogenic/Likely pathogenic14666051546660515CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_152443.3(RDH12):c.883C>T (p.Arg295Ter)RDH12Pathogenic/Likely pathogenic146820049768200497CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)RPE65Pathogenic/Likely pathogenic16889719268897192CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)POMGNT1Pathogenic/Likely pathogenic14666150646661506GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)POMGNT1Pathogenic/Likely pathogenic14665784746657847GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)USH2APathogenic/Likely pathogenic1216251674216251674GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_206933.4(USH2A):c.10318del (p.Ile3440fs)USH2APathogenic/Likely pathogenic1215960081215960081ATAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)PROM1Pathogenic/Likely pathogenic41598930615989306GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000440.3(PDE6A):c.1620+1G>APDE6APathogenic/Likely pathogenic5149275918149275918CTcriteria provided, multiple submitters, no conflicts-