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.1198C>T (p.Gln400Ter)	MEN1	Pathogenic	11	64572658	64572658	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588528
single nucleotide variant	NM_001370259.2(MEN1):c.1192C>T (p.Gln398Ter)	MEN1	Pathogenic	11	64572664	64572664	G	A	criteria provided, single submitter	ClinGen:CA10588529
Deletion	NM_001370259.2(MEN1):c.1174del (p.Glu392fs)	MEN1	Pathogenic/Likely pathogenic	11	64573118	64573118	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588530
single nucleotide variant	NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter)	MEN1	Pathogenic	11	64575035	64575035	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588531
single nucleotide variant	NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)	MEN1	Pathogenic	11	64575139	64575139	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588532
single nucleotide variant	NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter)	MEN1	Pathogenic	11	64575147	64575147	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588533
single nucleotide variant	NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter)	MEN1	Pathogenic	11	64577161	64577161	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588534
single nucleotide variant	NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter)	MEN1	Pathogenic	11	64577290	64577290	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588535
Duplication	NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)	MEN1	Pathogenic	11	64572092	64572093	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA6082217,OMIM:613733.0015,OMIM:613733.0033
Deletion	NM_001370259.2(MEN1):c.1336del (p.Arg446fs)	MEN1	Pathogenic	11	64572520	64572520	CG	C	criteria provided, single submitter	ClinGen:CA10603126