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_003000.3(SDHB):c.758G>A (p.Cys253Tyr)	SDHB	Likely pathogenic	1	17349110	17349110	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016171
single nucleotide variant	NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)	SDHB	Likely pathogenic	1	17355106	17355106	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015837
single nucleotide variant	NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)	SDHD	Likely pathogenic	11	111965626	111965626	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017004
single nucleotide variant	NM_002382.5(MAX):c.171+2T>A	MAX	Likely pathogenic	14	65560424	65560424	A	T	criteria provided, single submitter	ClinGen:CA195070
single nucleotide variant	NM_020975.6(RET):c.2837C>T (p.Thr946Ile)	RET	Likely pathogenic	10	43619154	43619154	C	T	criteria provided, single submitter	ClinGen:CA009107
single nucleotide variant	NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)	VHL	Likely pathogenic	3	10183763	10183763	A	T	criteria provided, single submitter	ClinGen:CA357056
single nucleotide variant	NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	VHL	Likely pathogenic	3	10183764	10183764	A	T	criteria provided, single submitter	ClinGen:CA357063
single nucleotide variant	NM_000551.4(VHL):c.269A>T (p.Asn90Ile)	VHL	Likely pathogenic	3	10183800	10183800	A	T	criteria provided, single submitter	ClinGen:CA357043
single nucleotide variant	NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	VHL	Likely pathogenic	3	10183808	10183808	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA357130
Deletion	NM_000551.4(VHL):c.335_340+5del	VHL	Likely pathogenic	3	10183866	10183876	TACCGAGGTACG	T	criteria provided, single submitter	ClinGen:CA357040