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
Duplication	NM_001370259.2(MEN1):c.147dup (p.Val50fs)	MEN1	Pathogenic	11	64577434	64577435	C	CA	criteria provided, single submitter	ClinGen:CA306383
Deletion	NM_001370259.2(MEN1):c.152del (p.Asn51fs)	MEN1	Pathogenic	11	64577430	64577430	GT	G	criteria provided, single submitter	ClinGen:CA353615
Duplication	NM_001370259.2(MEN1):c.164dup (p.Thr56fs)	MEN1	Pathogenic	11	64577417	64577418	A	AG	criteria provided, single submitter	ClinGen:CA306429
Deletion	NM_001370259.2(MEN1):c.168del (p.Asn57fs)	MEN1	Pathogenic/Likely pathogenic	11	64577414	64577414	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613697
Deletion	NM_001370259.2(MEN1):c.207del (p.Asp70fs)	MEN1	Pathogenic	11	64577375	64577375	CG	C	criteria provided, single submitter	ClinGen:CA16042759
Deletion	NM_001370259.2(MEN1):c.211_212del (p.Pro71fs)	MEN1	Pathogenic	11	64577370	64577371	CGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009338
Deletion	NM_001370259.2(MEN1):c.223del (p.Leu75fs)	MEN1	Pathogenic	11	64577359	64577359	AG	A	criteria provided, single submitter	ClinGen:CA645369562
single nucleotide variant	NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)	MEN1	Pathogenic/Likely pathogenic	11	64577351	64577351	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA381187598
Deletion	NM_001370259.2(MEN1):c.237del (p.Val80fs)	MEN1	Pathogenic	11	64577345	64577345	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA475163782
Deletion	NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)	MEN1	Pathogenic	11	64577330	64577333	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009345,OMIM:613733.0002,OMIM:613733.0017