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_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
single nucleotide variant	NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)	SDHB	Pathogenic/Likely pathogenic	1	17349144	17349144	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016155
single nucleotide variant	NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)	SDHB	Pathogenic	1	17349179	17349179	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016097
single nucleotide variant	NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)	SDHB	Pathogenic/Likely pathogenic	1	17349180	17349180	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016074,UniProtKB:P21912#VAR_054383
single nucleotide variant	NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)	SDHB	Pathogenic/Likely pathogenic	1	17349219	17349219	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016064
single nucleotide variant	NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)	SDHB	Pathogenic	1	17350510	17350510	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016022
single nucleotide variant	NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)	SDHB	Pathogenic	1	17350536	17350536	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015973,UniProtKB:P21912#VAR_035066