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.464-1G>C	VHL	Pathogenic	3	10191470	10191470	G	C	criteria provided, single submitter	ClinGen:CA357081
single nucleotide variant	NM_000551.4(VHL):c.464-1G>T	VHL	Pathogenic	3	10191470	10191470	G	T	criteria provided, single submitter	ClinGen:CA357144
single nucleotide variant	NM_000551.4(VHL):c.470C>T (p.Thr157Ile)	VHL	Pathogenic	3	10191477	10191477	C	T	criteria provided, single submitter	ClinGen:CA357133,UniProtKB:P40337#VAR_005746
single nucleotide variant	NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)	VHL	Likely pathogenic	3	10191492	10191492	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357010,UniProtKB:P40337#VAR_005757
single nucleotide variant	NM_000551.4(VHL):c.486C>A (p.Cys162Ter)	VHL	Pathogenic	3	10191493	10191493	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357112
single nucleotide variant	NM_000551.4(VHL):c.486C>G (p.Cys162Trp)	VHL	Pathogenic	3	10191493	10191493	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357016,UniProtKB:P40337#VAR_005756
single nucleotide variant	NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	VHL	Pathogenic	3	10191497	10191497	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357060
Deletion	NM_000551.4(VHL):c.540_543del (p.Val181fs)	VHL	Pathogenic	3	10191547	10191550	TCGTC	T	criteria provided, single submitter	ClinGen:CA357022
single nucleotide variant	NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	VHL	Pathogenic/Likely pathogenic	3	10191562	10191562	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357075
single nucleotide variant	NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	VHL	Likely pathogenic	3	10191600	10191600	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357145