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.371_372del (p.Val124fs)	MEN1	Pathogenic	11	64577210	64577211	TGA	T	criteria provided, single submitter	ClinGen:CA658797663
Deletion	NC_000011.10:g.(?_64809659)_(64810115_?)del	MEN1	Pathogenic	11	64577131	64577587	na	na	criteria provided, single submitter	-
Duplication	NM_001370259.2(MEN1):c.1193dup (p.Ser399fs)	MEN1	Pathogenic	11	64572662	64572663	C	CT	criteria provided, single submitter	ClinGen:CA658797667
single nucleotide variant	NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)	MEN1	Pathogenic/Likely pathogenic	11	64577351	64577351	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA381187598
Deletion	NM_001370259.2(MEN1):c.1473del (p.Glu491fs)	MEN1	Pathogenic	11	64572166	64572166	GC	G	criteria provided, single submitter	ClinGen:CA658797662
single nucleotide variant	NM_001370259.2(MEN1):c.1049+1G>A	MEN1	Pathogenic	11	64573703	64573703	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183128
single nucleotide variant	NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)	MEN1	Likely pathogenic	11	64573729	64573729	C	G	criteria provided, single submitter	ClinGen:CA381183224
Deletion	NM_001370259.2(MEN1):c.142del (p.Leu48fs)	MEN1	Pathogenic	11	64577440	64577440	AG	A	criteria provided, single submitter	ClinGen:CA658797665
Deletion	NM_001370259.2(MEN1):c.823del (p.Arg275fs)	MEN1	Pathogenic	11	64574652	64574652	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797670
single nucleotide variant	NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter)	MEN1	Pathogenic	11	64577204	64577204	C	T	criteria provided, single submitter	ClinGen:CA381187290