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_003000.3(SDHB):c.689G>A (p.Arg230His)	SDHB	Pathogenic/Likely pathogenic	1	17349179	17349179	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016085,OMIM:185470.0023
Deletion	NM_003000.3(SDHB):c.607_616del (p.Gly203fs)	SDHB	Pathogenic	1	17350494	17350503	TATTTGTCTCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016035
single nucleotide variant	NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	SDHB	Pathogenic	1	17371320	17371320	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015507
single nucleotide variant	NM_003000.3(SDHB):c.72+1G>T	SDHB	Pathogenic/Likely pathogenic	1	17380442	17380442	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016145,OMIM:185470.0012
single nucleotide variant	NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)	SDHB	Likely pathogenic	1	17359638	17359638	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015598
single nucleotide variant	NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)	SDHB	Pathogenic/Likely pathogenic	1	17359581	17359581	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015626,UniProtKB:P21912#VAR_018517
single nucleotide variant	NM_003001.5(SDHC):c.78-1G>A	SDHC	Likely pathogenic	1	161298185	161298185	G	A	criteria provided, single submitter	ClinGen:CA011508
single nucleotide variant	NM_003001.5(SDHC):c.380A>G (p.His127Arg)	SDHC	Pathogenic/Likely pathogenic	1	161326605	161326605	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011435
single nucleotide variant	NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)	SDHC	Pathogenic	1	161326622	161326622	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011426
single nucleotide variant	NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)	SDHB	Likely pathogenic	1	17349110	17349110	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016171