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_004168.4(SDHA):c.457-2_457del	SDHA	Pathogenic	5	225995	225997	ACAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582418
single nucleotide variant	NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)	SDHA	Pathogenic	5	233750	233750	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582426
Deletion	NM_004168.4(SDHA):c.1432_1432+1del	SDHA	Pathogenic/Likely pathogenic	5	236714	236715	TGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582429
single nucleotide variant	NM_004168.4(SDHA):c.1432+1G>C	SDHA	Likely pathogenic	5	236715	236715	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582430
Deletion	NM_003002.3(SDHD):c.-84_*831del	SDHD	Pathogenic	11	111957548	111966525	na	na	criteria provided, single submitter	-
Duplication	NM_003002.4(SDHD):c.10dup (p.Leu4fs)	SDHD	Pathogenic	11	111957640	111957641	T	TC	criteria provided, single submitter	ClinGen:CA10582865
Deletion	NM_003002.4(SDHD):c.173del (p.Gly58fs)	SDHD	Pathogenic	11	111959593	111959593	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582869
Deletion	NM_003002.4(SDHD):c.242del (p.Pro81fs)	SDHD	Pathogenic	11	111959662	111959662	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582870
single nucleotide variant	NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)	SDHD	Pathogenic/Likely pathogenic	11	111965575	111965575	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582872
single nucleotide variant	NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)	TMEM127	Pathogenic/Likely pathogenic	2	96919799	96919799	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588348