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_020975.6(RET):c.2837C>T (p.Thr946Ile)	RET	Likely pathogenic	10	43619154	43619154	C	T	criteria provided, single submitter	ClinGen:CA009107
Deletion	NM_020975.6(RET):c.2839del (p.Thr946_Leu947insTer)	RET	Pathogenic	10	43619154	43619154	AC	A	criteria provided, single submitter	ClinGen:CA009114
Deletion	NM_020975.6(RET):c.2846del (p.Gly949fs)	RET	Pathogenic	10	43619159	43619159	AG	A	criteria provided, single submitter	ClinGen:CA009118
single nucleotide variant	NM_001370259.2(MEN1):c.1687G>T (p.Glu563Ter)	MEN1	Pathogenic	11	64571952	64571952	C	A	criteria provided, single submitter	ClinGen:CA009282
single nucleotide variant	NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)	MEN1	Pathogenic	11	64571979	64571979	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009272
Deletion	NM_001370259.2(MEN1):c.1651del (p.Leu551fs)	MEN1	Pathogenic	11	64571988	64571988	AG	A	criteria provided, single submitter	ClinGen:CA009255
Duplication	NM_001370259.2(MEN1):c.1602_1618dup (p.Pro540fs)	MEN1	Pathogenic	11	64572020	64572021	G	GGTGCTGGCACCTGAGCC	criteria provided, single submitter	ClinGen:CA306435
single nucleotide variant	NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter)	MEN1	Pathogenic	11	64572090	64572090	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009207
Duplication	NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)	MEN1	Pathogenic/Likely pathogenic	11	64572090	64572091	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA306384
Deletion	NM_001370259.2(MEN1):c.1546del (p.Arg516fs)	MEN1	Pathogenic	11	64572093	64572093	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009199,OMIM:613733.0028