Knowledge base for genomic medicine in Japanese
フォン・ヒッペル・リンドウ病
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000551.4(VHL):c.524A>G (p.Tyr175Cys)VHLPathogenic/Likely pathogenic31019153110191531AGcriteria provided, multiple submitters, no conflictsClinGen:CA020462
single nucleotide variantNM_000551.4(VHL):c.194C>G (p.Ser65Trp)VHLPathogenic31018372510183725CGcriteria provided, multiple submitters, no conflictsClinGen:CA020099,UniProtKB:P40337#VAR_005673
single nucleotide variantNM_000551.4(VHL):c.208G>A (p.Glu70Lys)VHLPathogenic/Likely pathogenic31018373910183739GAcriteria provided, multiple submitters, no conflictsClinGen:CA020108,UniProtKB:P40337#VAR_005676
single nucleotide variantNM_000551.4(VHL):c.319C>G (p.Arg107Gly)VHLPathogenic/Likely pathogenic31018385010183850CGcriteria provided, multiple submitters, no conflictsClinGen:CA020257,UniProtKB:P40337#VAR_034991
single nucleotide variantNM_000551.4(VHL):c.467A>G (p.Tyr156Cys)VHLPathogenic31019147410191474AGcriteria provided, multiple submitters, no conflictsClinGen:CA020394,UniProtKB:P40337#VAR_005743
DeletionNM_000551.4(VHL):c.408del (p.Phe136fs)VHLPathogenic31018826310188263ATAcriteria provided, multiple submitters, no conflictsClinGen:CA020343
single nucleotide variantNM_000551.4(VHL):c.464-1G>AVHLPathogenic31019147010191470GAcriteria provided, multiple submitters, no conflictsClinGen:CA020389
single nucleotide variantNM_000551.4(VHL):c.485G>T (p.Cys162Phe)VHLPathogenic31019149210191492GTcriteria provided, multiple submitters, no conflictsClinGen:CA020418,UniProtKB:P40337#VAR_005754
single nucleotide variantNM_000551.4(VHL):c.497T>C (p.Val166Ala)VHLPathogenic/Likely pathogenic31019150410191504TCcriteria provided, multiple submitters, no conflictsClinGen:CA020442
single nucleotide variantNM_000551.4(VHL):c.233A>G (p.Asn78Ser)VHLPathogenic31018376410183764AGcriteria provided, multiple submitters, no conflictsClinGen:CA020131,UniProtKB:P40337#VAR_005683