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_002382.5(MAX):c.212T>A (p.Ile71Asn)	MAX	Likely pathogenic	14	65544714	65544714	A	T	criteria provided, single submitter	ClinGen:CA10579867
Deletion	NM_003000.2(SDHB):c.-151_*159del	SDHB	Pathogenic	1	17345217	17380665	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)	SDHB	Pathogenic	1	17349144	17349144	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581740
single nucleotide variant	NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)	SDHB	Likely pathogenic	1	17355222	17355222	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581747
single nucleotide variant	NM_003000.3(SDHB):c.271A>T (p.Arg91Ter)	SDHB	Pathogenic	1	17359570	17359570	T	A	criteria provided, single submitter	ClinGen:CA10581748
single nucleotide variant	NM_003000.3(SDHB):c.201-2A>C	SDHB	Pathogenic	1	17359642	17359642	T	G	criteria provided, single submitter	ClinGen:CA10581750
Deletion	NM_003000.3(SDHB):c.126del (p.Phe42fs)	SDHB	Pathogenic	1	17371330	17371330	CA	C	criteria provided, single submitter	ClinGen:CA10581752
Deletion	NM_017849.3(TMEM127):c.-131-?_*3600del	TMEM127	Pathogenic	2	96915946	96931250	na	na	criteria provided, single submitter	-
Deletion	NM_000551.3(VHL):c.464-?_*3705del	VHL	Pathogenic	3	10191471	10195354	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.1A>G (p.Met1Val)	SDHA	Pathogenic/Likely pathogenic	5	218471	218471	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172674