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_003002.4(SDHD):c.148C>G (p.His50Asp)	SDHD	Likely pathogenic	11	111958676	111958676	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617089
single nucleotide variant	NM_003000.3(SDHB):c.642+1G>A	SDHB	Pathogenic	1	17350467	17350467	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338270921
single nucleotide variant	NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)	SDHB	Pathogenic	1	17350557	17350557	C	A	criteria provided, single submitter	ClinGen:CA338271414
single nucleotide variant	NM_003000.3(SDHB):c.540G>A (p.Leu180=)	SDHB	Likely pathogenic	1	17354244	17354244	C	T	criteria provided, single submitter	ClinGen:CA089647
Deletion	NM_003000.3(SDHB):c.392del (p.Pro131fs)	SDHB	Pathogenic	1	17355126	17355126	TG	T	criteria provided, single submitter	ClinGen:CA645509069
single nucleotide variant	NM_003000.3(SDHB):c.287-3C>G	SDHB	Likely pathogenic	1	17355234	17355234	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509071
single nucleotide variant	NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)	SDHB	Pathogenic	1	17371273	17371273	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338227764
single nucleotide variant	NM_003002.4(SDHD):c.170-1G>T	SDHD	Pathogenic	11	111959590	111959590	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617149
single nucleotide variant	NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)	SDHD	Pathogenic	11	111959660	111959660	T	G	criteria provided, single submitter	ClinGen:CA382617293
single nucleotide variant	NM_003002.4(SDHD):c.314+1G>A	SDHD	Pathogenic/Likely pathogenic	11	111959736	111959736	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617441