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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https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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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
Duplication	NM_001370259.2(MEN1):c.340dup (p.Ser114fs)	MEN1	Pathogenic	11	64577241	64577242	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603131
Duplication	NM_020975.6(RET):c.890dup (p.Val298fs)	RET	Pathogenic	10	43601845	43601846	C	CG	criteria provided, single submitter	ClinGen:CA10603140
Duplication	NM_001370259.2(MEN1):c.1429dup (p.Glu477fs)	MEN1	Pathogenic	11	64572209	64572210	T	TC	criteria provided, single submitter	ClinGen:CA10603166
Indel	NM_001370259.2(MEN1):c.490_491delinsT (p.Ala164fs)	MEN1	Pathogenic	11	64575526	64575527	GC	A	criteria provided, single submitter	ClinGen:CA10603168
single nucleotide variant	NM_001370259.2(MEN1):c.446-2A>C	MEN1	Pathogenic	11	64575573	64575573	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603221
single nucleotide variant	NM_020975.6(RET):c.2418C>G (p.Tyr806Ter)	RET	Pathogenic	10	43615004	43615004	C	G	criteria provided, single submitter	ClinGen:CA10606962
Duplication	NM_001370259.2(MEN1):c.773_775dup (p.Gln258dup)	MEN1	Likely pathogenic	11	64575031	64575032	A	AGCT	criteria provided, single submitter	ClinGen:CA16042754
Deletion	NM_001370259.2(MEN1):c.207del (p.Asp70fs)	MEN1	Pathogenic	11	64577375	64577375	CG	C	criteria provided, single submitter	ClinGen:CA16042759
single nucleotide variant	NM_001370259.2(MEN1):c.913-1G>A	MEN1	Pathogenic/Likely pathogenic	11	64573841	64573841	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042860
Deletion	NM_001370259.2(MEN1):c.654+1del	MEN1	Pathogenic	11	64575362	64575362	AC	A	criteria provided, single submitter	ClinGen:CA16043460