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_003000.3(SDHB):c.413A>G (p.Asp138Gly)	SDHB	Pathogenic	1	17355105	17355105	T	C	criteria provided, single submitter	-
Duplication	NM_003000.3(SDHB):c.148_151dup (p.Lys51fs)	SDHB	Pathogenic	1	17371304	17371305	T	TTGTC	criteria provided, single submitter	-
Duplication	NM_003000.3(SDHB):c.143_144dup (p.Pro49fs)	SDHB	Pathogenic	1	17371311	17371312	G	GGT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)	SDHB	Pathogenic	1	17380445	17380445	G	A	criteria provided, single submitter	-
Duplication	NM_003000.3(SDHB):c.63dup (p.Cys22fs)	SDHB	Pathogenic	1	17380451	17380452	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_017849.4(TMEM127):c.478C>T (p.Gln160Ter)	TMEM127	Pathogenic	2	96919785	96919785	G	A	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del)	VHL	Pathogenic	3	10183822	10183833	CCTACCCAACGCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.344A>G (p.His115Arg)	VHL	Pathogenic/Likely pathogenic	3	10188201	10188201	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.461C>T (p.Pro154Leu)	VHL	Pathogenic	3	10188318	10188318	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)	SDHA	Pathogenic	5	218475	218475	C	A	criteria provided, single submitter	-