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.500G>T (p.Arg167Leu)	VHL	Pathogenic	3	10191507	10191507	G	T	criteria provided, single submitter	ClinGen:CA351756178
single nucleotide variant	NM_000551.4(VHL):c.245G>T (p.Arg82Leu)	VHL	Pathogenic/Likely pathogenic	3	10183776	10183776	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351750555
single nucleotide variant	NM_000551.4(VHL):c.460C>G (p.Pro154Ala)	VHL	Likely pathogenic	3	10188317	10188317	C	G	criteria provided, single submitter	ClinGen:CA351754403
single nucleotide variant	NM_000551.4(VHL):c.463+1G>A	VHL	Pathogenic	3	10188321	10188321	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621909
single nucleotide variant	NM_017849.4(TMEM127):c.3G>A (p.Met1Ile)	TMEM127	Pathogenic	2	96931117	96931117	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347656375
Deletion	NM_004168.4(SDHA):c.722_726del (p.Asp241fs)	SDHA	Pathogenic	5	228398	228402	AGGACG	A	criteria provided, single submitter	ClinGen:CA658796485
single nucleotide variant	NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)	SDHA	Pathogenic	5	251184	251184	T	G	criteria provided, single submitter	ClinGen:CA358998711
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
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
Duplication	NM_004168.4(SDHA):c.1547dup (p.Lys517fs)	SDHA	Pathogenic	5	240586	240587	C	CA	criteria provided, single submitter	ClinGen:CA658796492