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_002382.5(MAX):c.211_221del (p.Ile71fs)	MAX	Pathogenic	14	65544705	65544715	CATATACTGGAT	C	criteria provided, single submitter	ClinGen:CA16614204
Deletion	NC_000014.9:g.(?_65093702)_(65102345_?)del	MAX	Pathogenic	14	65560420	65569063	na	na	criteria provided, single submitter	-
Duplication	NM_002382.5(MAX):c.98dup (p.Arg35fs)	MAX	Pathogenic	14	65560498	65560499	T	TC	criteria provided, single submitter	ClinGen:CA658658264
single nucleotide variant	NM_002382.5(MAX):c.219T>A (p.Tyr73Ter)	MAX	Pathogenic	14	65544707	65544707	A	T	criteria provided, single submitter	ClinGen:CA390035784
Deletion	NM_002382.5(MAX):c.228del (p.Asn78fs)	MAX	Pathogenic	14	65544698	65544698	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798225
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	-
Deletion	NM_002382.5(MAX):c.120del (p.Asp41fs)	MAX	Pathogenic	14	65560477	65560477	CT	C	criteria provided, single submitter	-
Deletion	NC_000014.9:g.(?_65101536)_(65102349_?)del	MAX	Pathogenic	14	65568254	65569067	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_020975.6(RET):c.1852T>G (p.Cys618Gly)	RET	Pathogenic	10	43609096	43609096	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007995,UniProtKB:P07949#VAR_006310,OMIM:164761.0001
single nucleotide variant	NM_020975.6(RET):c.1900T>G (p.Cys634Gly)	RET	Pathogenic	10	43609948	43609948	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008324,UniProtKB:P07949#VAR_006323,OMIM:164761.0003