多発性内分泌腫瘍症1型、2A・2B型／甲状腺髄様がん

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1267T>C (p.Trp423Arg)	MEN1	Likely pathogenic	11	64572589	64572589	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381180426
Deletion	NM_001370259.2(MEN1):c.739_745del (p.Ile247fs)	MEN1	Pathogenic	11	64575062	64575068	AGGTCAAT	A	criteria provided, single submitter	ClinGen:CA658656173
single nucleotide variant	NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter)	MEN1	Pathogenic	11	64575126	64575126	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381184686
Deletion	NM_001370259.2(MEN1):c.563_564del (p.Pro188fs)	MEN1	Pathogenic	11	64575453	64575454	TGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658066
single nucleotide variant	NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter)	MEN1	Pathogenic	11	64572104	64572104	G	C	criteria provided, single submitter	ClinGen:CA381178620
Deletion	NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs)	MEN1	Pathogenic	11	64572257	64572264	CTCTCGGCT	C	criteria provided, single submitter	ClinGen:CA658656131
single nucleotide variant	NM_001370259.2(MEN1):c.1350+2T>C	MEN1	Likely pathogenic	11	64572504	64572504	A	G	criteria provided, single submitter	ClinGen:CA381180004
Deletion	NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs)	MEN1	Pathogenic	11	64577264	64577265	GAT	G	criteria provided, single submitter	ClinGen:CA658658068
Deletion	NM_001370259.2(MEN1):c.1725del (p.Lys576fs)	MEN1	Likely pathogenic	11	64571914	64571914	TG	T	criteria provided, single submitter	ClinGen:CA658656129
Duplication	NM_020975.6(RET):c.1425dup (p.Pro476fs)	RET	Pathogenic	10	43606814	43606815	C	CG	criteria provided, single submitter	ClinGen:CA658797415