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_003000.3(SDHB):c.423+1G>A	SDHB	Pathogenic	1	17355094	17355094	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015862,OMIM:185470.0019
single nucleotide variant	NM_003000.3(SDHB):c.143A>T (p.Asp48Val)	SDHB	Pathogenic/Likely pathogenic	1	17371313	17371313	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015528,OMIM:185470.0020
single nucleotide variant	NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)	SDHC	Pathogenic	1	161293426	161293426	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011542
single nucleotide variant	NM_003000.3(SDHB):c.287-1G>C	SDHB	Pathogenic/Likely pathogenic	1	17355232	17355232	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015712
single nucleotide variant	NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)	SDHB	Pathogenic/Likely pathogenic	1	17350510	17350510	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016011
Duplication	NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)	SDHB	Pathogenic	1	17371343	17371344	C	CGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA221957
single nucleotide variant	NM_003000.3(SDHB):c.286+2T>A	SDHB	Pathogenic	1	17359553	17359553	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015691
single nucleotide variant	NM_003000.3(SDHB):c.386C>G (p.Pro129Arg)	SDHB	Likely pathogenic	1	17355132	17355132	G	C	criteria provided, single submitter	ClinGen:CA015807
single nucleotide variant	NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)	SDHB	Pathogenic	1	17350535	17350535	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015982
single nucleotide variant	NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)	SDHB	Pathogenic/Likely pathogenic	1	17359555	17359555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015701