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_017849.4(TMEM127):c.570del (p.Thr191fs)	TMEM127	Likely pathogenic	2	96919693	96919693	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA534634931
Deletion	NM_000551.4(VHL):c.388del (p.Val130fs)	VHL	Pathogenic	3	10188244	10188244	TG	T	criteria provided, single submitter	ClinGen:CA658655751
single nucleotide variant	NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	VHL	Pathogenic/Likely pathogenic	3	10188317	10188317	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351754405
single nucleotide variant	NM_004168.4(SDHA):c.151-1G>C	SDHA	Likely pathogenic	5	224474	224474	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA359008365
single nucleotide variant	NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)	SDHA	Pathogenic	5	226094	226094	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172876
Deletion	NM_004168.4(SDHA):c.1832del (p.Gln611fs)	SDHA	Likely pathogenic	5	254545	254545	CA	C	criteria provided, single submitter	ClinGen:CA658657414
Deletion	NM_004168.4(SDHA):c.558_567del (p.His187fs)	SDHA	Pathogenic	5	226097	226106	GGCCCATCGGT	G	criteria provided, single submitter	ClinGen:CA658657420
single nucleotide variant	NM_003002.4(SDHD):c.209G>T (p.Arg70Met)	SDHD	Likely pathogenic	11	111959630	111959630	G	T	criteria provided, single submitter	ClinGen:CA382617235
Deletion	NM_003002.4(SDHD):c.213_215del (p.Val72del)	SDHD	Likely pathogenic	11	111959632	111959634	GGTT	G	criteria provided, single submitter	ClinGen:CA658658103
Indel	NM_003002.4(SDHD):c.443_444delinsTT (p.Gly148Val)	SDHD	Likely pathogenic	11	111965657	111965658	GC	TT	criteria provided, single submitter	ClinGen:CA658658107