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_003001.5(SDHC):c.1A>G (p.Met1Val)	SDHC	Pathogenic	1	161284196	161284196	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA046289
Deletion	NC_000001.11:g.(?_161314400)_(161362439_?)del	SDHC	Pathogenic	1	161284190	161332229	na	na	criteria provided, single submitter	-
Deletion	NM_003002.3(SDHD):c.(?_286)_(387_?)del	SDHD	Likely pathogenic	11	111965980	111966081	na	na	criteria provided, single submitter	-
Indel	NM_003002.4(SDHD):c.443_444delinsTT (p.Gly148Val)	SDHD	Likely pathogenic	11	111965657	111965658	GC	TT	criteria provided, single submitter	ClinGen:CA658658107
Deletion	NM_003002.4(SDHD):c.443del (p.Gly148fs)	SDHD	Likely pathogenic	11	111965655	111965655	TG	T	criteria provided, single submitter	ClinGen:CA017041,OMIM:602690.0009
single nucleotide variant	NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	SDHD	Likely pathogenic	11	111965630	111965630	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_003002.4(SDHD):c.413G>T (p.Gly138Val)	SDHD	Likely pathogenic	11	111965627	111965627	G	T	criteria provided, single submitter	ClinGen:CA382619290
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
Deletion	NM_003002.4(SDHD):c.394del (p.Ser132fs)	SDHD	Pathogenic/Likely pathogenic	11	111965606	111965606	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613229
Duplication	NM_003002.4(SDHD):c.388dup (p.Ala130fs)	SDHD	Pathogenic	11	111965600	111965601	T	TG	criteria provided, single submitter	ClinGen:CA645369586