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.215G>T (p.Arg72Leu)	SDHC	Pathogenic	1	161310419	161310419	G	T	criteria provided, single submitter	ClinGen:CA343365932
single nucleotide variant	NM_003001.5(SDHC):c.179+1G>C	SDHC	Likely pathogenic	1	161298288	161298288	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042288
single nucleotide variant	NM_003001.5(SDHC):c.78-1G>T	SDHC	Likely pathogenic	1	161298185	161298185	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343360805
single nucleotide variant	NM_003001.5(SDHC):c.78-1G>A	SDHC	Likely pathogenic	1	161298185	161298185	G	A	criteria provided, single submitter	ClinGen:CA011508
single nucleotide variant	NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)	SDHC	Pathogenic	1	161293426	161293426	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011542
Deletion	NM_003001.5(SDHC):c.21-3_22del	SDHC	Likely pathogenic	1	161293401	161293405	GCAGAC	G	criteria provided, single submitter	ClinGen:CA658795559
single nucleotide variant	NM_003001.5(SDHC):c.21-2A>G	SDHC	Pathogenic/Likely pathogenic	1	161293402	161293402	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343359222
Duplication	NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)	SDHC	Pathogenic	1	161284211	161284212	C	CTG	criteria provided, single submitter	-
Deletion	NM_003001.5(SDHC):c.6del (p.Ala3fs)	SDHC	Pathogenic	1	161284201	161284201	CT	C	criteria provided, single submitter	ClinGen:CA016383
single nucleotide variant	NM_003001.5(SDHC):c.3G>A (p.Met1Ile)	SDHC	Pathogenic	1	161284198	161284198	G	A	criteria provided, single submitter	ClinGen:CA016312,OMIM:602413.0001