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_004168.4(SDHA):c.508C>T (p.Gln170Ter)	SDHA	Pathogenic	5	226049	226049	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)	SDHA	Pathogenic	5	226094	226094	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172876
single nucleotide variant	NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)	SDHA	Likely pathogenic	5	226103	226103	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172879
Deletion	NM_004168.4(SDHA):c.558_567del (p.His187fs)	SDHA	Pathogenic	5	226097	226106	GGCCCATCGGT	G	criteria provided, single submitter	ClinGen:CA658657420
single nucleotide variant	NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)	SDHA	Pathogenic	5	226156	226156	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578627
Indel	NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)	SDHA	Pathogenic	5	226160	226161	AG	C	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.622-1G>A	SDHA	Likely pathogenic	5	228299	228299	G	A	criteria provided, single submitter	ClinGen:CA359010778
single nucleotide variant	NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)	SDHA	Pathogenic	5	228306	228306	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172926
Deletion	NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)	SDHA	Pathogenic	5	228321	228322	CTA	C	criteria provided, single submitter	-
Deletion	NM_004168.4(SDHA):c.667del (p.Asp223fs)	SDHA	Pathogenic/Likely pathogenic	5	228344	228344	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166673