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	NM_001370259.2(MEN1):c.211_212del (p.Pro71fs)	MEN1	Pathogenic	11	64577370	64577371	CGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009338
Duplication	NM_001370259.2(MEN1):c.252dup (p.Ile85fs)	MEN1	Pathogenic/Likely pathogenic	11	64577329	64577330	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA260457
single nucleotide variant	NM_001370259.2(MEN1):c.417C>G (p.His139Gln)	MEN1	Likely pathogenic	11	64577165	64577165	G	C	criteria provided, single submitter	ClinGen:CA009417
Insertion	NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs)	MEN1	Likely pathogenic	11	64575551	64575552	C	CAATT	criteria provided, single submitter	ClinGen:CA009428
single nucleotide variant	NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)	MEN1	Pathogenic/Likely pathogenic	11	64575514	64575514	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009447,UniProtKB:O00255#VAR_039598
Deletion	NM_001370259.2(MEN1):c.649_654+2del	MEN1	Likely pathogenic	11	64575361	64575368	TACCCGCTC	T	criteria provided, single submitter	ClinGen:CA260470
single nucleotide variant	NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)	MEN1	Likely pathogenic	11	64575049	64575049	G	T	criteria provided, single submitter	ClinGen:CA009595
single nucleotide variant	NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)	MEN1	Pathogenic	11	64573817	64573817	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009655
Duplication	NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)	MEN1	Likely pathogenic	11	64573797	64573798	T	TA	criteria provided, single submitter	ClinGen:CA260475
single nucleotide variant	NM_001370259.2(MEN1):c.654+1G>A	MEN1	Pathogenic	11	64575362	64575362	C	T	criteria provided, multiple submitters, no conflicts	OMIM:613733.0035