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.238A>C (p.Ser80Arg)	VHL	Pathogenic	3	10183769	10183769	A	C	criteria provided, single submitter	ClinGen:CA16621913
single nucleotide variant	NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	VHL	Pathogenic	3	10183793	10183793	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351750667
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
single nucleotide variant	NM_000551.4(VHL):c.484T>C (p.Cys162Arg)	VHL	Pathogenic	3	10191491	10191491	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756117
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.407T>C (p.Phe136Ser)	VHL	Pathogenic/Likely pathogenic	3	10188264	10188264	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA040847
Deletion	NM_003001.5(SDHC):c.21-3_22del	SDHC	Likely pathogenic	1	161293401	161293405	GCAGAC	G	criteria provided, single submitter	ClinGen:CA658795559
Insertion	NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)	SDHB	Pathogenic/Likely pathogenic	1	17354338	17354339	T	TCCATA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795406
Duplication	NM_020975.6(RET):c.1425dup (p.Pro476fs)	RET	Pathogenic	10	43606814	43606815	C	CG	criteria provided, single submitter	ClinGen:CA658797415
Deletion	NM_004168.4(SDHA):c.255del (p.Phe85fs)	SDHA	Likely pathogenic	5	224577	224577	GT	G	criteria provided, single submitter	ClinGen:CA3172756