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
Deletion	NC_000002.12:g.(?_96253798)_(96265391_?)del	TMEM127	Pathogenic	2	96919536	96931129	na	na	criteria provided, single submitter	-
Deletion	NM_017849.4(TMEM127):c.397del (p.His133fs)	TMEM127	Pathogenic	2	96920583	96920583	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.340G>A (p.Gly114Ser)	VHL	Pathogenic	3	10183871	10183871	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.472C>G (p.Leu158Val)	VHL	Pathogenic	3	10191479	10191479	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.2T>A (p.Met1Lys)	SDHA	Pathogenic	5	218472	218472	T	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)	SDHA	Pathogenic/Likely pathogenic	5	218510	218511	C	CGGCGCCT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004168.4(SDHA):c.995_996del (p.Pro332fs)	SDHA	Pathogenic	5	233691	233692	CCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)	SDHA	Likely pathogenic	5	251530	251530	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017849.4(TMEM127):c.245-1G>C	TMEM127	Pathogenic/Likely pathogenic	2	96920736	96920736	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.331A>T (p.Ser111Cys)	VHL	Pathogenic	3	10183862	10183862	A	T	criteria provided, single submitter	-