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_000328.3(RPGR):c.1234C>T (p.Arg412Ter)RPGRPathogenicX3815822038158220GAcriteria provided, single submitter-
copy number lossGRCh37/hg19 Xp11.4(chrX:38144822-38164037)RPGRPathogenicX3814482238164037nanacriteria provided, single submitter-
duplicationNM_000328.3(RPGR):c.1905+990dupRPGRPathogenic/Likely pathogenicX3814535238145353TTCcriteria provided, multiple submitters, no conflicts-
deletionNM_000328.3(RPGR):c.1905+537_1905+540delRPGRPathogenicX3814580738145810CCTCTCcriteria provided, multiple submitters, no conflicts-
deletionNM_000328.3(RPGR):c.1905+600_1905+601delRPGRPathogenicX3814574638145747TCCTcriteria provided, single submitter-
single nucleotide variantNM_000328.3(RPGR):c.1905+736G>TRPGRLikely pathogenicX3814561138145611CAcriteria provided, single submitter-
single nucleotide variantNM_000328.3(RPGR):c.154G>A (p.Gly52Arg)RPGRPathogenicX3818265238182652CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_003611.3(OFD1):c.655-2A>GOFD1PathogenicX1376489713764897AGcriteria provided, single submitter-
single nucleotide variantNM_003611.3(OFD1):c.312+1G>TOFD1Likely pathogenicX1375479813754798GTcriteria provided, single submitter-
single nucleotide variantNM_003611.3(OFD1):c.1313C>G (p.Ser438Ter)OFD1PathogenicX1377478813774788CGcriteria provided, single submitter-