遺伝性褐色細胞腫・パラガングリオーマ

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000551.4(VHL):c.562C>G (p.Leu188Val)	VHL	Pathogenic/Likely pathogenic	3	10191569	10191569	C	G	criteria provided, multiple submitters, no conflicts	OMIM:608537.0014,ClinGen:CA020488,UniProtKB:P40337#VAR_005777
single nucleotide variant	NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	VHL	Pathogenic/Likely pathogenic	3	10183722	10183722	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020089,UniProtKB:P40337#VAR_034988,OMIM:608537.0015
single nucleotide variant	NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)	VHL	Pathogenic	3	10183865	10183865	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020273,UniProtKB:P40337#VAR_034992,OMIM:608537.0017
single nucleotide variant	NM_000551.4(VHL):c.388G>C (p.Val130Leu)	VHL	Pathogenic	3	10188245	10188245	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020325,UniProtKB:P40337#VAR_005733,OMIM:608537.0021
single nucleotide variant	NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	VHL	Likely pathogenic	3	10188233	10188233	G	T	criteria provided, single submitter	ClinGen:CA020319,UniProtKB:P40337#VAR_034994,OMIM:608537.0022
single nucleotide variant	NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	VHL	Likely pathogenic	3	10191495	10191495	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020423,UniProtKB:P40337#VAR_034998,OMIM:608537.0018
single nucleotide variant	NM_000551.4(VHL):c.571C>G (p.His191Asp)	VHL	Likely pathogenic	3	10191578	10191578	C	G	criteria provided, single submitter	ClinGen:CA020495,UniProtKB:P40337#VAR_034999,OMIM:608537.0024
single nucleotide variant	NM_000551.4(VHL):c.250G>T (p.Val84Leu)	VHL	Pathogenic	3	10183781	10183781	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020170,UniProtKB:P40337#VAR_005692,OMIM:608537.0025
single nucleotide variant	NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	VHL	Pathogenic	3	10183808	10183808	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P40337#VAR_005705,OMIM:608537.0026,ClinGen:CA020230
single nucleotide variant	NM_000551.4(VHL):c.491A>G (p.Gln164Arg)	VHL	Pathogenic	3	10191498	10191498	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020429,UniProtKB:P40337#VAR_005758,OMIM:608537.0027