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.1351-1G>C	MEN1	Pathogenic	11	64572289	64572289	C	G	criteria provided, single submitter	ClinGen:CA009149
Deletion	NM_001370259.2(MEN1):c.1350+1_1350+11del	MEN1	Pathogenic	11	64572495	64572505	GCTGTCCCTCAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017625
Deletion	NM_001370259.2(MEN1):c.1341del (p.Phe447fs)	MEN1	Pathogenic	11	64572515	64572515	CA	C	criteria provided, single submitter	ClinGen:CA009142
single nucleotide variant	NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)	MEN1	Pathogenic	11	64572532	64572532	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009136
single nucleotide variant	NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)	MEN1	Pathogenic	11	64572604	64572604	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009091
Deletion	NM_001370259.2(MEN1):c.1110del (p.Asp370fs)	MEN1	Pathogenic	11	64573182	64573182	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009028
Deletion	NM_001370259.2(MEN1):c.950_957del (p.His317fs)	MEN1	Pathogenic	11	64573796	64573803	GGTAGATGT	G	criteria provided, single submitter	ClinGen:CA009657
single nucleotide variant	NM_001370259.2(MEN1):c.784-9G>A	MEN1	Pathogenic/Likely pathogenic	11	64574700	64574700	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009635,OMIM:613733.0024
single nucleotide variant	NM_001370259.2(MEN1):c.783+1G>T	MEN1	Pathogenic	11	64575023	64575023	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)	MEN1	Pathogenic/Likely pathogenic	11	64575085	64575085	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009579