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.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
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.1A>G (p.Met1Val)	MEN1	Pathogenic/Likely pathogenic	11	64577581	64577581	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009318
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_020975.6(RET):c.1998G>T (p.Lys666Asn)	RET	Pathogenic/Likely pathogenic	10	43610046	43610046	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008525
single nucleotide variant	NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	RET	Pathogenic/Likely pathogenic	10	43610044	43610044	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008502
single nucleotide variant	NM_020975.6(RET):c.1947G>A (p.Ser649=)	RET	Pathogenic/Likely pathogenic	10	43609995	43609995	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008487
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.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.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