Knowledge base for genomic medicine in Japanese
遺伝性褐色細胞腫・パラガングリオーマ
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_003002.4(SDHD):c.106C>T (p.Gln36Ter)SDHDPathogenic11111958634111958634CTcriteria provided, multiple submitters, no conflictsClinGen:CA016759,OMIM:602690.0001
single nucleotide variantNM_003002.4(SDHD):c.112C>T (p.Arg38Ter)SDHDPathogenic11111958640111958640CTcriteria provided, multiple submitters, no conflictsClinGen:CA016789,OMIM:602690.0002
single nucleotide variantNM_003002.4(SDHD):c.52+2T>GSDHDLikely pathogenic11111957685111957685TGcriteria provided, single submitterClinGen:CA017068,OMIM:602690.0010
single nucleotide variantNM_003002.4(SDHD):c.242C>T (p.Pro81Leu)SDHDPathogenic/Likely pathogenic11111959663111959663CTcriteria provided, multiple submitters, no conflictsClinGen:CA016688,UniProtKB:O14521#VAR_010038,OMIM:602690.0003
single nucleotide variantNM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)SDHDPathogenic/Likely pathogenic11111959695111959695GTcriteria provided, multiple submitters, no conflictsClinGen:CA016702,UniProtKB:O14521#VAR_010039,OMIM:602690.0004
single nucleotide variantNM_003002.4(SDHD):c.305A>T (p.His102Leu)SDHDPathogenic11111959726111959726ATcriteria provided, multiple submitters, no conflictsClinGen:CA016665,UniProtKB:O14521#VAR_010040,OMIM:602690.0005
single nucleotide variantNM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)SDHDPathogenic11111965555111965555AGcriteria provided, multiple submitters, no conflictsClinGen:CA016797,UniProtKB:O14521#VAR_017872,OMIM:602690.0007
single nucleotide variantNM_003002.4(SDHD):c.95C>A (p.Ser32Ter)SDHDPathogenic11111958623111958623CAcriteria provided, multiple submitters, no conflictsClinGen:CA016746,OMIM:602690.0008
DeletionNM_003002.4(SDHD):c.443del (p.Gly148fs)SDHDLikely pathogenic11111965655111965655TGTcriteria provided, single submitterClinGen:CA017041,OMIM:602690.0009
single nucleotide variantNM_003002.4(SDHD):c.64C>T (p.Arg22Ter)SDHDPathogenic11111958592111958592CTcriteria provided, multiple submitters, no conflictsClinGen:CA016739,OMIM:602690.0012