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
Deletion	NC_000011.10:g.(?_64804324)_(64810716_?)del	MEN1	Pathogenic	11	64571796	64578188	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_64803514)_(64810132_?)del	MEN1	Pathogenic	11	64570986	64577604	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_64809659)_(64810115_?)del	MEN1	Pathogenic	11	64577131	64577587	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)	MEN1	Pathogenic	11	64577581	64577581	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381188344
single nucleotide variant	NM_001370259.2(MEN1):c.1A>G (p.Met1Val)	MEN1	Pathogenic/Likely pathogenic	11	64577581	64577581	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009318
single nucleotide variant	NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)	MEN1	Pathogenic/Likely pathogenic	11	64577579	64577579	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009394
Deletion	NM_001370259.2(MEN1):c.16_17del (p.Ala6fs)	MEN1	Pathogenic	11	64577565	64577566	GGC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369576
single nucleotide variant	NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)	MEN1	Likely pathogenic	11	64577547	64577547	G	A	criteria provided, single submitter	ClinGen:CA009390,UniProtKB:O00255#VAR_005425
Deletion	NM_001370259.2(MEN1):c.55del (p.Val19fs)	MEN1	Pathogenic	11	64577527	64577527	AC	A	criteria provided, single submitter	ClinGen:CA009473
Insertion	NM_001370259.2(MEN1):c.57_58insT (p.Val20fs)	MEN1	Pathogenic	11	64577524	64577525	C	CA	criteria provided, single submitter	ClinGen:CA009493