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.405+1G>A	SDHC	Pathogenic	1	161326631	161326631	G	A	criteria provided, single submitter	ClinGen:CA011395,OMIM:602413.0004
single nucleotide variant	NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)	SDHA	Pathogenic/Likely pathogenic	5	251126	251126	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119880,UniProtKB:P31040#VAR_016878,OMIM:600857.0002
single nucleotide variant	NM_004168.4(SDHA):c.1A>C (p.Met1Leu)	SDHA	Pathogenic	5	218471	218471	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119881,OMIM:600857.0003
single nucleotide variant	NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)	SDHA	Pathogenic	5	251453	251453	G	A	criteria provided, single submitter	ClinGen:CA119883,UniProtKB:P31040#VAR_016879,OMIM:600857.0004
single nucleotide variant	NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	SDHB	Pathogenic	1	17359573	17359573	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015643,OMIM:185470.0001
single nucleotide variant	NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)	SDHB	Pathogenic/Likely pathogenic	1	17350520	17350520	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016001,UniProtKB:P21912#VAR_017868,OMIM:185470.0002
single nucleotide variant	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB	Pathogenic/Likely pathogenic	1	17349143	17349143	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016163,UniProtKB:P21912#VAR_017869,OMIM:185470.0004
single nucleotide variant	NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)	SDHB	Pathogenic	1	17371377	17371377	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016187,OMIM:185470.0006
single nucleotide variant	NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)	SDHB	Pathogenic	1	17371320	17371320	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015497,UniProtKB:P21912#VAR_035064,OMIM:185470.0008
single nucleotide variant	NM_003000.3(SDHB):c.395A>C (p.His132Pro)	SDHB	Pathogenic/Likely pathogenic	1	17355123	17355123	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015817,UniProtKB:P21912#VAR_037621,OMIM:185470.0010