遺伝性褐色細胞腫・パラガングリオーマ

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.407T>C (p.Phe136Ser)	VHL	Pathogenic/Likely pathogenic	3	10188264	10188264	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA040847
single nucleotide variant	NM_000551.4(VHL):c.345C>A (p.His115Gln)	VHL	Pathogenic/Likely pathogenic	3	10188202	10188202	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753631
single nucleotide variant	NM_000551.4(VHL):c.392A>G (p.Asn131Ser)	VHL	Pathogenic/Likely pathogenic	3	10188249	10188249	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753941
Duplication	NM_000551.4(VHL):c.189dup (p.Arg64fs)	VHL	Pathogenic/Likely pathogenic	3	10183719	10183720	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683297
single nucleotide variant	NM_000551.4(VHL):c.395A>C (p.Gln132Pro)	VHL	Pathogenic/Likely pathogenic	3	10188252	10188252	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753958
Deletion	NM_004168.4(SDHA):c.757_758del (p.Val253fs)	SDHA	Pathogenic/Likely pathogenic	5	228434	228435	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657422
single nucleotide variant	NM_003002.4(SDHD):c.317G>T (p.Gly106Val)	SDHD	Pathogenic/Likely pathogenic	11	111965531	111965531	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382618730
single nucleotide variant	NM_003002.4(SDHD):c.314+1G>T	SDHD	Pathogenic/Likely pathogenic	11	111959736	111959736	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617440
single nucleotide variant	NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	VHL	Pathogenic/Likely pathogenic	3	10188317	10188317	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351754405
single nucleotide variant	NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)	SDHA	Pathogenic/Likely pathogenic	5	240508	240508	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA359014231