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
Duplication	NM_000551.4(VHL):c.477dup (p.Glu160fs)	VHL	Pathogenic	3	10191481	10191482	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.497T>A (p.Val166Asp)	VHL	Pathogenic	3	10191504	10191504	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.509T>A (p.Val170Asp)	VHL	Pathogenic/Likely pathogenic	3	10191516	10191516	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.526del (p.Arg176fs)	VHL	Pathogenic	3	10191533	10191533	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.529A>T (p.Arg177Ter)	VHL	Pathogenic	3	10191536	10191536	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.533T>A (p.Leu178Gln)	VHL	Pathogenic	3	10191540	10191540	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	VHL	Pathogenic	3	10191540	10191540	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.533_534del (p.Leu178fs)	VHL	Pathogenic	3	10191540	10191541	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.547del (p.Ser183fs)	VHL	Likely pathogenic	3	10191554	10191554	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.563T>A (p.Leu188Gln)	VHL	Likely pathogenic	3	10191570	10191570	T	A	criteria provided, single submitter	-