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
Deletion	NC_000014.9:g.(?_65093702)_(65102345_?)del	MAX	Pathogenic	14	65560420	65569063	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003001.5(SDHC):c.223G>C (p.Gly75Arg)	SDHC	Likely pathogenic	1	161310427	161310427	G	C	criteria provided, single submitter	ClinGen:CA343366003
single nucleotide variant	NM_003000.3(SDHB):c.643-1G>A	SDHB	Likely pathogenic	1	17349226	17349226	C	T	criteria provided, single submitter	ClinGen:CA338270530
single nucleotide variant	NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)	SDHB	Likely pathogenic	1	17355229	17355229	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338275267
single nucleotide variant	NM_003000.3(SDHB):c.642G>T (p.Gln214His)	SDHB	Likely pathogenic	1	17350468	17350468	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338270923
Deletion	NM_003000.3(SDHB):c.21del (p.Ser8fs)	SDHB	Pathogenic	1	17380494	17380494	AG	A	criteria provided, single submitter	ClinGen:CA658656885
single nucleotide variant	NM_003001.5(SDHC):c.215G>T (p.Arg72Leu)	SDHC	Pathogenic	1	161310419	161310419	G	T	criteria provided, single submitter	ClinGen:CA343365932
Deletion	NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)	SDHC	Pathogenic	1	161326598	161326613	CATGTATCATACCTGGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656975
single nucleotide variant	NM_003000.3(SDHB):c.653G>C (p.Trp218Ser)	SDHB	Likely pathogenic	1	17349215	17349215	C	G	criteria provided, single submitter	ClinGen:CA338270494
single nucleotide variant	NM_000551.4(VHL):c.302T>C (p.Leu101Pro)	VHL	Likely pathogenic	3	10183833	10183833	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351751000