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.208G>A (p.Glu70Lys)	VHL	Pathogenic/Likely pathogenic	3	10183739	10183739	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020108,UniProtKB:P40337#VAR_005676
single nucleotide variant	NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	VHL	Pathogenic/Likely pathogenic	3	10183850	10183850	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020257,UniProtKB:P40337#VAR_034991
single nucleotide variant	NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)	VHL	Pathogenic	3	10191474	10191474	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020394,UniProtKB:P40337#VAR_005743
Deletion	NM_000551.4(VHL):c.408del (p.Phe136fs)	VHL	Pathogenic	3	10188263	10188263	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020343
single nucleotide variant	NM_000551.4(VHL):c.464-1G>A	VHL	Pathogenic	3	10191470	10191470	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020389
single nucleotide variant	NM_000551.4(VHL):c.485G>T (p.Cys162Phe)	VHL	Pathogenic	3	10191492	10191492	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020418,UniProtKB:P40337#VAR_005754
single nucleotide variant	NM_000551.4(VHL):c.497T>C (p.Val166Ala)	VHL	Pathogenic/Likely pathogenic	3	10191504	10191504	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020442
single nucleotide variant	NM_003000.3(SDHB):c.287-1G>C	SDHB	Pathogenic/Likely pathogenic	1	17355232	17355232	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015712
single nucleotide variant	NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)	SDHB	Pathogenic/Likely pathogenic	1	17350510	17350510	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016011
single nucleotide variant	NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	VHL	Pathogenic	3	10183764	10183764	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020131,UniProtKB:P40337#VAR_005683