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.307del (p.Leu103fs)	MEN1	Pathogenic	11	64577275	64577275	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009358,OMIM:613733.0003
Deletion	NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs)	MEN1	Pathogenic	11	64577264	64577265	GAT	G	criteria provided, single submitter	ClinGen:CA658658068
single nucleotide variant	NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter)	MEN1	Pathogenic	11	64577264	64577264	A	T	criteria provided, single submitter	ClinGen:CA16613689
Insertion	NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs)	MEN1	Pathogenic	11	64577259	64577260	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)	MEN1	Pathogenic	11	64577260	64577260	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009370
Deletion	NM_001370259.2(MEN1):c.323del (p.Arg108fs)	MEN1	Pathogenic	11	64577259	64577259	TC	T	criteria provided, single submitter	ClinGen:CA10582946
Duplication	NM_001370259.2(MEN1):c.332dup (p.Val112fs)	MEN1	Pathogenic	11	64577249	64577250	A	AC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370259.2(MEN1):c.336del (p.Ser113fs)	MEN1	Pathogenic	11	64577246	64577246	AG	A	criteria provided, single submitter	ClinGen:CA645369559
Duplication	NM_001370259.2(MEN1):c.340dup (p.Ser114fs)	MEN1	Pathogenic	11	64577241	64577242	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603131
single nucleotide variant	NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)	MEN1	Pathogenic	11	64577236	64577236	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613475