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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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_001370259.2(MEN1):c.402del (p.Phe134fs)	MEN1	Pathogenic	11	64577180	64577180	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009401,OMIM:613733.0005
single nucleotide variant	NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)	MEN1	Pathogenic/Likely pathogenic	11	64577517	64577517	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009546,UniProtKB:O00255#VAR_005426,OMIM:613733.0001