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.374T>G (p.Met125Arg)	SDHC	Pathogenic	1	161326599	161326599	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609904
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
Deletion	NC_000001.11:g.(?_161356677)_(161356840_?)del	SDHC	Pathogenic	1	161326467	161326630	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_161356667)_(161356850_?)del	SDHC	Pathogenic	1	161326457	161326640	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_161356667)_(161362443_?)del	SDHC	Pathogenic	1	161326457	161332233	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)	SDHC	Pathogenic/Likely pathogenic	1	161310428	161310428	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016245
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
Deletion	NM_003001.5(SDHC):c.215del (p.Arg72fs)	SDHC	Pathogenic	1	161310419	161310419	CG	C	criteria provided, single submitter	ClinGen:CA658795560
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
Duplication	NC_000001.10:g.(?_161310384)_(161310445_?)dup	SDHC	Likely pathogenic	1	161310384	161310445	na	na	criteria provided, single submitter	-