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_004168.4(SDHA):c.786del (p.Tyr263fs)	SDHA	Pathogenic/Likely pathogenic	5	231005	231005	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796487
Deletion	NC_000001.11:g.(?_161314400)_(161362439_?)del	SDHC	Pathogenic	1	161284190	161332229	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_17033054)_(17033151_?)del	SDHB	Pathogenic	1	17359549	17359646	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003001.5(SDHC):c.78-1G>T	SDHC	Likely pathogenic	1	161298185	161298185	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343360805
Insertion	NM_003000.3(SDHB):c.785_786insG (p.Ile263fs)	SDHB	Likely pathogenic	1	17345433	17345434	A	AC	criteria provided, single submitter	ClinGen:CA658795401
Deletion	NM_003001.5(SDHC):c.215del (p.Arg72fs)	SDHC	Pathogenic	1	161310419	161310419	CG	C	criteria provided, single submitter	ClinGen:CA658795560
Deletion	NM_003000.3(SDHB):c.608del (p.Gly203fs)	SDHB	Pathogenic	1	17350502	17350502	TC	T	criteria provided, single submitter	ClinGen:CA658795407
single nucleotide variant	NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)	SDHB	Pathogenic	1	17354279	17354279	G	A	criteria provided, single submitter	ClinGen:CA16602226
Deletion	NM_003000.3(SDHB):c.491del (p.Gln164fs)	SDHB	Pathogenic	1	17354293	17354293	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795404
Deletion	NM_003000.3(SDHB):c.112del (p.Arg38fs)	SDHB	Pathogenic	1	17371344	17371344	CG	C	criteria provided, single submitter	ClinGen:CA658795409