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.134A>G (p.Glu45Gly)	MEN1	Pathogenic	11	64577448	64577448	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)	MEN1	Pathogenic/Likely pathogenic	11	64577447	64577447	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613432
Deletion	NM_001370259.2(MEN1):c.142del (p.Leu48fs)	MEN1	Pathogenic	11	64577440	64577440	AG	A	criteria provided, single submitter	ClinGen:CA658797665
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