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.784-2A>G	MEN1	Pathogenic	11	64574693	64574693	T	C	criteria provided, single submitter	ClinGen:CA381184031
single nucleotide variant	NM_001370259.2(MEN1):c.783+1G>A	MEN1	Pathogenic	11	64575023	64575023	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381184101
Deletion	NM_001370259.2(MEN1):c.727_734del (p.Ile243fs)	MEN1	Pathogenic	11	64575073	64575080	AGGGTTGAT	A	criteria provided, single submitter	ClinGen:CA645369565
Duplication	NM_001370259.2(MEN1):c.706_709dup (p.Ala237fs)	MEN1	Pathogenic	11	64575097	64575098	G	GCCAC	criteria provided, single submitter	ClinGen:CA645369566
single nucleotide variant	NM_001370259.2(MEN1):c.703G>A (p.Glu235Lys)	MEN1	Pathogenic	11	64575104	64575104	C	T	criteria provided, single submitter	ClinGen:CA381184581
single nucleotide variant	NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter)	MEN1	Pathogenic	11	64575110	64575110	T	A	criteria provided, single submitter	ClinGen:CA381184614
Duplication	NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs)	MEN1	Pathogenic	11	64575121	64575122	C	CGCAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369567
Deletion	NM_001370259.2(MEN1):c.625del (p.Gln209fs)	MEN1	Pathogenic	11	64575392	64575392	TG	T	criteria provided, single submitter	ClinGen:CA645369573
Deletion	NM_001370259.2(MEN1):c.529_530del (p.Leu177fs)	MEN1	Pathogenic	11	64575487	64575488	CAG	C	criteria provided, single submitter	ClinGen:CA645369574
Deletion	NM_001370259.2(MEN1):c.530del (p.Leu177fs)	MEN1	Pathogenic	11	64575487	64575487	CA	C	criteria provided, single submitter	ClinGen:CA645369575