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.65T>G (p.Leu22Arg)	MEN1	Pathogenic/Likely pathogenic	11	64577517	64577517	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009546,UniProtKB:O00255#VAR_005426,OMIM:613733.0001
Deletion	NM_001370259.2(MEN1):c.402del (p.Phe134fs)	MEN1	Pathogenic	11	64577180	64577180	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009401,OMIM:613733.0005
single nucleotide variant	NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)	MEN1	Pathogenic	11	64575424	64575424	C	T	criteria provided, single submitter	OMIM:613733.0006,ClinGen:CA009514
Deletion	NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)	MEN1	Pathogenic	11	64573203	64573205	ACTC	A	criteria provided, multiple submitters, no conflicts	OMIM:613733.0009,ClinGen:CA356504
single nucleotide variant	NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)	MEN1	Pathogenic/Likely pathogenic	11	64572550	64572550	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009116,UniProtKB:O00255#VAR_005464,OMIM:613733.0010
single nucleotide variant	NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)	MEN1	Pathogenic	11	64572549	64572549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009122,OMIM:613733.0011
single nucleotide variant	NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)	MEN1	Pathogenic/Likely pathogenic	11	64572060	64572060	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009219,OMIM:613733.0012
single nucleotide variant	NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)	MEN1	Pathogenic/Likely pathogenic	11	64577506	64577506	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009584,UniProtKB:O00255#VAR_005427,OMIM:613733.0013
single nucleotide variant	NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)	MEN1	Pathogenic	11	64575029	64575029	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009615,OMIM:613733.0014
single nucleotide variant	NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)	MEN1	Pathogenic	11	64572261	64572261	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009155,OMIM:613733.0016