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
single nucleotide variant	NM_020975.6(RET):c.2837C>T (p.Thr946Ile)	RET	Likely pathogenic	10	43619154	43619154	C	T	criteria provided, single submitter	ClinGen:CA009107
Deletion	NM_020975.6(RET):c.2839del (p.Thr946_Leu947insTer)	RET	Pathogenic	10	43619154	43619154	AC	A	criteria provided, single submitter	ClinGen:CA009114
Deletion	NM_020975.6(RET):c.2846del (p.Gly949fs)	RET	Pathogenic	10	43619159	43619159	AG	A	criteria provided, single submitter	ClinGen:CA009118
single nucleotide variant	NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)	SDHA	Pathogenic/Likely pathogenic	5	224547	224547	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA276119,OMIM:600857.0010
single nucleotide variant	NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)	SDHB	Pathogenic	1	17355180	17355180	C	G	criteria provided, single submitter	ClinGen:CA279931
single nucleotide variant	NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	VHL	Pathogenic/Likely pathogenic	3	10183824	10183824	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279916
Deletion	NM_000551.4(VHL):c.258del (p.Val87fs)	VHL	Pathogenic	3	10183787	10183787	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA348305
single nucleotide variant	NM_000551.4(VHL):c.337C>T (p.Arg113Ter)	VHL	Pathogenic	3	10183868	10183868	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA348491
Duplication	NM_000551.4(VHL):c.163dup (p.Glu55fs)	VHL	Pathogenic	3	10183692	10183693	T	TG	criteria provided, single submitter	ClinGen:CA357082
single nucleotide variant	NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	VHL	Pathogenic	3	10183725	10183725	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357085