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.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.237del (p.Val80fs)	MEN1	Pathogenic	11	64577345	64577345	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA475163782
Deletion	NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)	MEN1	Pathogenic	11	64577330	64577333	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009345,OMIM:613733.0002,OMIM:613733.0017
Insertion	NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs)	MEN1	Pathogenic	11	64577329	64577330	T	TAA	criteria provided, single submitter	ClinGen:CA16613485
Duplication	NM_001370259.2(MEN1):c.252dup (p.Ile85fs)	MEN1	Pathogenic/Likely pathogenic	11	64577329	64577330	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA260457
Deletion	NM_001370259.2(MEN1):c.265del (p.Leu89fs)	MEN1	Pathogenic	11	64577317	64577317	AG	A	criteria provided, single submitter	ClinGen:CA645369561
single nucleotide variant	NM_001370259.2(MEN1):c.270T>A (p.Tyr90Ter)	MEN1	Pathogenic	11	64577312	64577312	A	T	criteria provided, single submitter	ClinGen:CA381187515
Deletion	NM_001370259.2(MEN1):c.273_276del (p.Arg92fs)	MEN1	Pathogenic	11	64577306	64577309	AGCGG	A	criteria provided, single submitter	ClinGen:CA645369560
Duplication	NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs)	MEN1	Pathogenic	11	64577297	64577298	G	GGCGGT	criteria provided, single submitter	ClinGen:CA16613482
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