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.541-2A>G	SDHB	Pathogenic/Likely pathogenic	1	17350571	17350571	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015950
single nucleotide variant	NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)	SDHB	Likely pathogenic	1	17355106	17355106	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015837
single nucleotide variant	NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	SDHB	Pathogenic/Likely pathogenic	1	17355138	17355138	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015797
single nucleotide variant	NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)	SDHB	Pathogenic	1	17355144	17355144	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015788
Indel	NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)	SDHB	Pathogenic	1	17355207	17355207	T	CC	criteria provided, multiple submitters, no conflicts	ClinGen:CA188076
single nucleotide variant	NM_003000.3(SDHB):c.286+1G>A	SDHB	Pathogenic	1	17359554	17359554	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015681
Deletion	NM_003000.3(SDHB):c.166_170del (p.Pro56fs)	SDHB	Pathogenic	1	17371286	17371290	ATGAGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015546
single nucleotide variant	NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	SDHB	Pathogenic/Likely pathogenic	1	17371319	17371319	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015517,UniProtKB:P21912#VAR_054377
Deletion	NM_003000.3(SDHB):c.88del (p.Gln30fs)	SDHB	Pathogenic	1	17371368	17371368	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016194
single nucleotide variant	NM_003000.3(SDHB):c.26T>A (p.Leu9Ter)	SDHB	Pathogenic	1	17380489	17380489	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015664