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
single nucleotide variant	NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)	MEN1	Likely pathogenic	11	64573744	64573744	C	G	criteria provided, single submitter	ClinGen:CA16613621
single nucleotide variant	NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)	MEN1	Pathogenic	11	64573118	64573118	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613679
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
Deletion	NM_001370259.2(MEN1):c.168del (p.Asn57fs)	MEN1	Pathogenic/Likely pathogenic	11	64577414	64577414	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613697
Duplication	NM_001370259.2(MEN1):c.1505dup (p.Leu504fs)	MEN1	Pathogenic	11	64572133	64572134	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619357
Indel	NM_001370259.2(MEN1):c.1378delinsACATAGT (p.Arg460delinsThrTer)	MEN1	Pathogenic	11	64572261	64572261	G	ACTATGT	criteria provided, single submitter	ClinGen:CA16619358
single nucleotide variant	NM_001370259.2(MEN1):c.922T>C (p.Ser308Pro)	MEN1	Likely pathogenic	11	64573831	64573831	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619359
single nucleotide variant	NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)	MEN1	Pathogenic	11	64574567	64574567	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619360
single nucleotide variant	NM_001370259.2(MEN1):c.824+5G>A	MEN1	Likely pathogenic	11	64574646	64574646	C	T	criteria provided, single submitter	ClinGen:CA16619361
Deletion	NM_001370259.2(MEN1):c.684del (p.Met228fs)	MEN1	Likely pathogenic	11	64575123	64575123	GC	G	criteria provided, single submitter	ClinGen:CA16619362