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	NM_003002.4(SDHD):c.278_280del (p.Tyr93del)	SDHD	Likely pathogenic	11	111959698	111959700	CTAT	C	criteria provided, single submitter	ClinGen:CA016628,OMIM:602690.0014
single nucleotide variant	NM_003002.4(SDHD):c.3G>C (p.Met1Ile)	SDHD	Pathogenic	11	111957634	111957634	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016987,OMIM:602690.0015
single nucleotide variant	NM_003002.4(SDHD):c.1A>G (p.Met1Val)	SDHD	Pathogenic	11	111957632	111957632	A	G	criteria provided, single submitter	ClinGen:CA016859,OMIM:602690.0021
Deletion	NM_003002.4(SDHD):c.337_340del (p.Asp113fs)	SDHD	Pathogenic	11	111965548	111965551	TACTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016955,OMIM:602690.0022
single nucleotide variant	NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)	SDHD	Pathogenic	11	111958657	111958657	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016785,OMIM:602690.0023
single nucleotide variant	NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)	SDHD	Pathogenic	11	111957664	111957664	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016967,OMIM:602690.0025
single nucleotide variant	NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)	SDHD	Pathogenic	11	111957645	111957645	G	A	criteria provided, single submitter	ClinGen:CA016834,OMIM:602690.0026
Deletion	NM_003002.4(SDHD):c.57del (p.Leu20fs)	SDHD	Pathogenic	11	111958585	111958585	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016733,OMIM:602690.0027
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
single nucleotide variant	NM_003001.5(SDHC):c.405+1G>T	SDHC	Pathogenic	1	161326631	161326631	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011403,OMIM:602413.0002