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.1666G>T (p.Glu556Ter)	MEN1	Pathogenic	11	64571973	64571973	C	A	criteria provided, single submitter	ClinGen:CA381177791
Duplication	NM_001370259.2(MEN1):c.1638_1639dup (p.Glu547fs)	MEN1	Pathogenic	11	64571999	64572000	T	TCC	criteria provided, single submitter	ClinGen:CA645369570
Deletion	NM_001370259.2(MEN1):c.1574del (p.Thr525fs)	MEN1	Pathogenic	11	64572065	64572065	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369553
Deletion	NM_001370259.2(MEN1):c.1529_1530del (p.Ala510fs)	MEN1	Pathogenic	11	64572109	64572110	CTG	C	criteria provided, single submitter	ClinGen:CA645369554
Duplication	NM_001370259.2(MEN1):c.1504_1507dup (p.Gly503fs)	MEN1	Pathogenic	11	64572131	64572132	C	CCCTT	criteria provided, single submitter	ClinGen:CA645369555
Duplication	NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs)	MEN1	Pathogenic	11	64572225	64572226	C	CCCACGGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369556
Insertion	NM_130799.2(MEN1):c.1391_1392ins13 (p.?)	MEN1	Pathogenic	11	64572247	64572248	na	na	criteria provided, single submitter	-
Indel	NM_001370259.2(MEN1):c.1390delinsCCT (p.Ala464fs)	MEN1	Pathogenic	11	64572249	64572249	C	AGG	criteria provided, single submitter	ClinGen:CA645369557
Duplication	NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs)	MEN1	Pathogenic	11	64572249	64572250	C	CCTCGGCCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369558
single nucleotide variant	NM_001370259.2(MEN1):c.1348C>T (p.Gln450Ter)	MEN1	Pathogenic	11	64572508	64572508	G	A	criteria provided, single submitter	ClinGen:CA381180022