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
Duplication	NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg)	VHL	Likely pathogenic	3	10183793	10183794	T	TGGC	criteria provided, single submitter	ClinGen:CA645369327
Deletion	NM_000551.4(VHL):c.278del (p.Gly93fs)	VHL	Pathogenic	3	10183808	10183808	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA432420500
single nucleotide variant	NM_000551.4(VHL):c.286C>T (p.Gln96Ter)	VHL	Pathogenic	3	10183817	10183817	C	T	criteria provided, single submitter	ClinGen:CA351750811
single nucleotide variant	NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	VHL	Pathogenic	3	10188210	10188210	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA70049399
single nucleotide variant	NM_000551.4(VHL):c.353T>G (p.Leu118Arg)	VHL	Pathogenic	3	10188210	10188210	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753694
Deletion	NM_000551.4(VHL):c.358del (p.Arg120fs)	VHL	Pathogenic	3	10188215	10188215	CA	C	criteria provided, single submitter	ClinGen:CA645369329
single nucleotide variant	NM_000551.4(VHL):c.397A>C (p.Thr133Pro)	VHL	Likely pathogenic	3	10188254	10188254	A	C	criteria provided, single submitter	ClinGen:CA351753973
Insertion	NM_000551.4(VHL):c.418_419insA (p.Leu140fs)	VHL	Pathogenic	3	10188275	10188276	C	CA	criteria provided, single submitter	ClinGen:CA645369330
single nucleotide variant	NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	VHL	Pathogenic	3	10188309	10188309	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351754359
single nucleotide variant	NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	VHL	Pathogenic/Likely pathogenic	3	10191507	10191507	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756177