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	NM_003002.4(SDHD):c.394del (p.Ser132fs)	SDHD	Pathogenic/Likely pathogenic	11	111965606	111965606	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613229
single nucleotide variant	NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)	SDHD	Pathogenic	11	111965539	111965539	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613252
Deletion	NC_000014.9:g.(?_65101546)_(65102544_?)del	MAX	Pathogenic	14	65568264	65569262	na	na	criteria provided, single submitter	-
Deletion	NM_002382.5(MAX):c.211_221del (p.Ile71fs)	MAX	Pathogenic	14	65544705	65544715	CATATACTGGAT	C	criteria provided, single submitter	ClinGen:CA16614204
Duplication	NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)	SDHB	Likely pathogenic	1	17345431	17345432	A	ATAGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617019
single nucleotide variant	NM_003000.3(SDHB):c.746G>A (p.Cys249Tyr)	SDHB	Likely pathogenic	1	17349122	17349122	C	T	criteria provided, single submitter	ClinGen:CA16617020
single nucleotide variant	NM_003000.3(SDHB):c.745T>C (p.Cys249Arg)	SDHB	Likely pathogenic	1	17349123	17349123	A	G	criteria provided, single submitter	ClinGen:CA16617021
single nucleotide variant	NM_003000.3(SDHB):c.649C>G (p.Arg217Gly)	SDHB	Pathogenic	1	17349219	17349219	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA089702
single nucleotide variant	NM_003000.3(SDHB):c.287-2A>G	SDHB	Pathogenic	1	17355233	17355233	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617023
Duplication	NM_017849.4(TMEM127):c.532dup (p.Tyr178fs)	TMEM127	Pathogenic/Likely pathogenic	2	96919730	96919731	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617773