多発性内分泌腫瘍症1型、2A・2B型／甲状腺髄様がん

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https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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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_001370259.2(MEN1):c.673G>A (p.Gly225Arg)	MEN1	Likely pathogenic	11	64575134	64575134	C	T	criteria provided, single submitter	ClinGen:CA16605982
single nucleotide variant	NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)	MEN1	Likely pathogenic	11	64575523	64575523	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605984
single nucleotide variant	NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)	MEN1	Pathogenic/Likely pathogenic	11	64575550	64575550	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605985
single nucleotide variant	NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter)	MEN1	Pathogenic	11	64575026	64575026	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606275
single nucleotide variant	NM_001370259.2(MEN1):c.783+2T>G	MEN1	Likely pathogenic	11	64575022	64575022	A	C	criteria provided, single submitter	ClinGen:CA16606964
single nucleotide variant	NM_020975.6(RET):c.2689C>T (p.Arg897Ter)	RET	Pathogenic	10	43615610	43615610	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612889
Deletion	NC_000011.10:g.(?_64803514)_(64810132_?)del	MEN1	Pathogenic	11	64570986	64577604	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_64803514)_(64804816_?)del	MEN1	Pathogenic	11	64570986	64572288	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)	MEN1	Pathogenic	11	64572613	64572613	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613380
single nucleotide variant	NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)	MEN1	Pathogenic	11	64573784	64573784	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613392