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_000551.4(VHL):c.506T>C (p.Leu169Pro)	VHL	Likely pathogenic	3	10191513	10191513	T	C	criteria provided, single submitter	ClinGen:CA351756191
single nucleotide variant	NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	VHL	Pathogenic	3	10191540	10191540	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756245
Duplication	NM_000551.4(VHL):c.543dup (p.Arg182fs)	VHL	Pathogenic	3	10191549	10191550	T	TC	criteria provided, single submitter	ClinGen:CA645369326
single nucleotide variant	NM_000551.4(VHL):c.581T>G (p.Val194Gly)	VHL	Pathogenic/Likely pathogenic	3	10191588	10191588	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756475
single nucleotide variant	NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	VHL	Pathogenic	3	10191590	10191590	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA70052558
single nucleotide variant	NM_003001.5(SDHC):c.21-2A>G	SDHC	Pathogenic/Likely pathogenic	1	161293402	161293402	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343359222
single nucleotide variant	NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)	SDHC	Pathogenic/Likely pathogenic	1	161326602	161326602	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA31433576
single nucleotide variant	NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)	SDHC	Pathogenic/Likely pathogenic	1	161326612	161326612	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA31433613
single nucleotide variant	NM_003001.5(SDHC):c.405+1G>C	SDHC	Pathogenic	1	161326631	161326631	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA343456782
single nucleotide variant	NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)	SDHB	Likely pathogenic	1	17349124	17349124	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338270053