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_000001.11:g.(?_17018881)_(17071491_?)del	SDHB	Pathogenic	1	17345376	17397986	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_17033050)_(17033155_?)del	SDHB	Pathogenic	1	17359545	17359650	na	na	criteria provided, single submitter	-
Deletion	NM_003001.5(SDHC):c.405+1del	SDHC	Likely pathogenic	1	161326630	161326630	TG	T	criteria provided, single submitter	-
Duplication	NM_003000.3(SDHB):c.780dup (p.Lys261fs)	SDHB	Likely pathogenic	1	17345438	17345439	T	TC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003000.3(SDHB):c.399dup (p.Tyr134fs)	SDHB	Pathogenic	1	17355118	17355119	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_003000.3(SDHB):c.73-1G>T	SDHB	Likely pathogenic	1	17371384	17371384	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)	SDHB	Likely pathogenic	1	17350512	17350512	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_017849.4(TMEM127):c.7del (p.Ala3fs)	TMEM127	Pathogenic	2	96931113	96931113	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.264G>C (p.Trp88Cys)	VHL	Pathogenic	3	10183795	10183795	G	C	criteria provided, single submitter	-
Indel	NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)	VHL	Likely pathogenic	3	10183809	10183810	GC	TT	criteria provided, multiple submitters, no conflicts	-