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_003000.3(SDHB):c.602G>A (p.Trp201Ter)	SDHB	Pathogenic	1	17350508	17350508	C	T	criteria provided, single submitter	ClinGen:CA16609931
single nucleotide variant	NM_003000.3(SDHB):c.499A>T (p.Lys167Ter)	SDHB	Pathogenic	1	17354285	17354285	T	A	criteria provided, single submitter	ClinGen:CA16609934
single nucleotide variant	NM_003000.3(SDHB):c.374C>G (p.Ser125Ter)	SDHB	Pathogenic	1	17355144	17355144	G	C	criteria provided, single submitter	ClinGen:CA16609939
single nucleotide variant	NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter)	SDHB	Pathogenic	1	17354343	17354343	A	C	criteria provided, single submitter	ClinGen:CA16609941
single nucleotide variant	NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)	SDHB	Pathogenic/Likely pathogenic	1	17371319	17371319	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609944
single nucleotide variant	NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)	SDHB	Pathogenic	1	17371315	17371315	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609948
single nucleotide variant	NM_003000.3(SDHB):c.194T>C (p.Leu65Pro)	SDHB	Pathogenic	1	17371262	17371262	A	G	criteria provided, single submitter	ClinGen:CA16609949
Deletion	NC_000003.12:g.(?_10141635)_(10142187_?)del	VHL	Pathogenic	3	10183319	10183871	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_10146514)_(10146636_?)del	VHL	Pathogenic	3	10188198	10188320	na	na	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.226_227del (p.Phe76fs)	VHL	Pathogenic	3	10183757	10183758	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611078