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
single nucleotide variant	NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)	MEN1	Likely pathogenic	11	64575086	64575086	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs)	MEN1	Pathogenic	11	64575057	64575058	G	GTGCA	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.758del (p.Ser253fs)	MEN1	Pathogenic	11	64575049	64575049	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)	MEN1	Pathogenic	11	64574680	64574680	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)	MEN1	Likely pathogenic	11	64574657	64574657	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys)	MEN1	Pathogenic	11	64574651	64574651	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer)	MEN1	Pathogenic	11	64572636	64572637	AGG	A	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs)	MEN1	Pathogenic	11	64572635	64572636	CAG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs)	MEN1	Pathogenic	11	64572600	64572603	GCCGT	G	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.1311del (p.Thr438fs)	MEN1	Pathogenic	11	64572545	64572545	TG	T	criteria provided, single submitter	-