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.193T>C (p.Ser65Pro)	VHL	Pathogenic	3	10183724	10183724	T	C	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.585_586del (p.Lys196fs)	VHL	Pathogenic	3	10191591	10191592	CAG	C	criteria provided, single submitter	-
Deletion	NM_003002.4(SDHD):c.18_21del (p.Leu7fs)	SDHD	Pathogenic/Likely pathogenic	11	111957648	111957651	AGGCT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003002.4(SDHD):c.336dup (p.Asp113Ter)	SDHD	Pathogenic	11	111965549	111965550	C	CT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004168.4(SDHA):c.210dup (p.Gly71fs)	SDHA	Likely pathogenic	5	224533	224534	G	GA	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.273del (p.Phe91fs)	VHL	Likely pathogenic	3	10183804	10183804	TC	T	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.329del (p.His110fs)	VHL	Pathogenic	3	10183860	10183860	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.344A>C (p.His115Pro)	VHL	Likely pathogenic	3	10188201	10188201	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000001.11:g.(?_17053938)_(17054029_?)del	SDHB	Pathogenic	1	17380433	17380524	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_17018875)_(17033151_?)del	SDHB	Pathogenic	1	17345370	17359646	na	na	criteria provided, single submitter	-