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.1214dup (p.Asp406fs)	MEN1	Pathogenic	11	64572641	64572642	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369507
single nucleotide variant	NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter)	MEN1	Pathogenic	11	64573115	64573115	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381182053
single nucleotide variant	NM_001370259.2(MEN1):c.1127T>C (p.Leu376Pro)	MEN1	Likely pathogenic	11	64573165	64573165	A	G	criteria provided, single submitter	ClinGen:CA381182424
single nucleotide variant	NM_001370259.2(MEN1):c.1102G>C (p.Ala368Pro)	MEN1	Likely pathogenic	11	64573190	64573190	C	G	criteria provided, single submitter	ClinGen:CA381182620
single nucleotide variant	NM_001370259.2(MEN1):c.1102G>A (p.Ala368Thr)	MEN1	Likely pathogenic	11	64573190	64573190	C	T	criteria provided, single submitter	ClinGen:CA381182623
single nucleotide variant	NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter)	MEN1	Pathogenic	11	64573239	64573239	G	C	criteria provided, single submitter	ClinGen:CA381182998
single nucleotide variant	NM_001370259.2(MEN1):c.1049+1G>C	MEN1	Pathogenic/Likely pathogenic	11	64573703	64573703	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183126
single nucleotide variant	NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)	MEN1	Pathogenic	11	64573731	64573731	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183230
single nucleotide variant	NM_001370259.2(MEN1):c.1013T>C (p.Leu338Pro)	MEN1	Likely pathogenic	11	64573740	64573740	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183249
Duplication	NM_001370259.2(MEN1):c.1001_1005dup (p.Glu336fs)	MEN1	Pathogenic	11	64573747	64573748	C	CCCGCA	criteria provided, single submitter	ClinGen:CA645369578