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.147dup (p.Val50fs)	MEN1	Pathogenic	11	64577434	64577435	C	CA	criteria provided, single submitter	ClinGen:CA306383
single nucleotide variant	NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)	MEN1	Pathogenic/Likely pathogenic	11	64577469	64577469	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009043
Deletion	NM_001370259.2(MEN1):c.79_88del (p.Leu27fs)	MEN1	Pathogenic	11	64577494	64577503	TCTCGGCCCAG	T	criteria provided, single submitter	ClinGen:CA009623
single nucleotide variant	NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)	MEN1	Pathogenic	11	64577497	64577497	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009645
Insertion	NM_001370259.2(MEN1):c.57_58insT (p.Val20fs)	MEN1	Pathogenic	11	64577524	64577525	C	CA	criteria provided, single submitter	ClinGen:CA009493
Deletion	NM_001370259.2(MEN1):c.55del (p.Val19fs)	MEN1	Pathogenic	11	64577527	64577527	AC	A	criteria provided, single submitter	ClinGen:CA009473
single nucleotide variant	NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)	MEN1	Likely pathogenic	11	64577547	64577547	G	A	criteria provided, single submitter	ClinGen:CA009390,UniProtKB:O00255#VAR_005425
single nucleotide variant	NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)	MEN1	Pathogenic/Likely pathogenic	11	64571975	64571975	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338972
single nucleotide variant	NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)	MEN1	Pathogenic	11	64572210	64572210	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA337615
Deletion	NM_001370259.2(MEN1):c.152del (p.Asn51fs)	MEN1	Pathogenic	11	64577430	64577430	GT	G	criteria provided, single submitter	ClinGen:CA353615