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.249_252del (p.Ile85fs)	MEN1	Pathogenic	11	64577330	64577333	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009345,OMIM:613733.0002,OMIM:613733.0017
single nucleotide variant	NM_001370259.2(MEN1):c.415C>G (p.His139Asp)	MEN1	Pathogenic	11	64577167	64577167	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009410,UniProtKB:O00255#VAR_005432,OMIM:613733.0023
single nucleotide variant	NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)	MEN1	Pathogenic	11	64572604	64572604	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009084,UniProtKB:O00255#VAR_005461,OMIM:613733.0027
single nucleotide variant	NM_001370259.2(MEN1):c.1350+1G>A	MEN1	Pathogenic	11	64572505	64572505	C	T	criteria provided, single submitter	ClinGen:CA278894,OMIM:613733.0031
single nucleotide variant	NM_001370259.2(MEN1):c.824+1G>A	MEN1	Pathogenic	11	64574650	64574650	C	T	criteria provided, single submitter	OMIM:613733.0034
Duplication	NM_001370259.2(MEN1):c.1013dup (p.Gln339fs)	MEN1	Likely pathogenic	11	64573739	64573740	C	CA	criteria provided, single submitter	ClinGen:CA260439
Deletion	NM_001370259.2(MEN1):c.1063del (p.Arg355fs)	MEN1	Likely pathogenic	11	64573229	64573229	CG	C	criteria provided, single submitter	ClinGen:CA009011
Duplication	NM_001370259.2(MEN1):c.1174dup (p.Glu392fs)	MEN1	Likely pathogenic	11	64573117	64573118	T	TC	criteria provided, single submitter	ClinGen:CA260440
single nucleotide variant	NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)	MEN1	Pathogenic/Likely pathogenic	11	64572594	64572594	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009105,UniProtKB:O00255#VAR_039638
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