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.28del (p.Leu10fs)	SDHA	Pathogenic	5	218498	218498	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)	SDHA	Pathogenic	5	226049	226049	C	T	criteria provided, single submitter	-
Indel	NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)	SDHA	Pathogenic	5	226160	226161	AG	C	criteria provided, single submitter	-
Indel	NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)	SDHA	Pathogenic	5	233638	233641	GGGA	TCC	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)	SDHA	Pathogenic	5	235452	235452	C	T	criteria provided, single submitter	-
Deletion	NM_004168.4(SDHA):c.1579del (p.Arg527fs)	SDHA	Pathogenic/Likely pathogenic	5	251133	251133	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020975.6(RET):c.268G>T (p.Glu90Ter)	RET	Pathogenic	10	43596101	43596101	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_020975.6(RET):c.1783G>T (p.Glu595Ter)	RET	Pathogenic	10	43609027	43609027	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_003002.4(SDHD):c.305A>G (p.His102Arg)	SDHD	Pathogenic/Likely pathogenic	11	111959726	111959726	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002382.5(MAX):c.289C>T (p.Gln97Ter)	MAX	Pathogenic/Likely pathogenic	14	65544637	65544637	G	A	criteria provided, multiple submitters, no conflicts	-