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
Indel	NM_001370259.2(MEN1):c.1004delinsTT (p.Arg335fs)	MEN1	Pathogenic	11	64573749	64573749	C	AA	criteria provided, single submitter	ClinGen:CA645369579
Deletion	NM_001370259.2(MEN1):c.970del (p.Leu324fs)	MEN1	Pathogenic	11	64573783	64573783	AG	A	criteria provided, single submitter	ClinGen:CA645369580
Deletion	NM_001370259.2(MEN1):c.967del (p.Tyr323fs)	MEN1	Pathogenic	11	64573786	64573786	TA	T	criteria provided, single submitter	ClinGen:CA645369581
single nucleotide variant	NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)	MEN1	Pathogenic/Likely pathogenic	11	64573794	64573794	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183361
single nucleotide variant	NM_001370259.2(MEN1):c.950A>G (p.His317Arg)	MEN1	Likely pathogenic	11	64573803	64573803	T	C	criteria provided, single submitter	ClinGen:CA381183385
single nucleotide variant	NM_001370259.2(MEN1):c.913-2A>G	MEN1	Pathogenic/Likely pathogenic	11	64573842	64573842	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183467
single nucleotide variant	NM_001370259.2(MEN1):c.912+1G>C	MEN1	Pathogenic	11	64574482	64574482	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183474
single nucleotide variant	NM_001370259.2(MEN1):c.841G>A (p.Gly281Arg)	MEN1	Likely pathogenic	11	64574554	64574554	C	T	criteria provided, single submitter	ClinGen:CA381183705
single nucleotide variant	NM_001370259.2(MEN1):c.825-1G>A	MEN1	Likely pathogenic	11	64574571	64574571	C	T	criteria provided, single submitter	ClinGen:CA381183803
single nucleotide variant	NM_001370259.2(MEN1):c.824+1G>C	MEN1	Likely pathogenic	11	64574650	64574650	C	G	criteria provided, single submitter	ClinGen:CA381183851