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.1400_1413del (p.Ala467fs)	MEN1	Pathogenic	11	64572226	64572239	CCCACGGCTCCTCGG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370259.2(MEN1):c.1420del (p.Glu474fs)	MEN1	Pathogenic	11	64572219	64572219	TC	T	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.1670del (p.Lys557fs)	MEN1	Pathogenic	11	64571969	64571969	CT	C	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.734del (p.Pro245fs)	MEN1	Pathogenic	11	64575073	64575073	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.125G>T (p.Gly42Val)	MEN1	Likely pathogenic	11	64577457	64577457	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.496C>T (p.Gln166Ter)	MEN1	Pathogenic	11	64575521	64575521	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter)	MEN1	Pathogenic	11	64573830	64573830	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370259.2(MEN1):c.1487del (p.Lys496fs)	MEN1	Pathogenic	11	64572152	64572152	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)	MEN1	Likely pathogenic	11	64573175	64573175	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)	MEN1	Pathogenic	11	64575539	64575539	C	G	criteria provided, multiple submitters, no conflicts	-