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.514G>T (p.Asp172Tyr)	MEN1	Pathogenic/Likely pathogenic	11	64575503	64575503	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381186018
single nucleotide variant	NM_001370259.2(MEN1):c.446-2A>G	MEN1	Pathogenic	11	64575573	64575573	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA381186358
Indel	NM_001370259.2(MEN1):c.431_432delinsAA (p.Phe144Ter)	MEN1	Pathogenic	11	64577150	64577151	GA	TT	criteria provided, single submitter	ClinGen:CA645369508
Indel	NM_001370259.2(MEN1):c.429_432delinsATT (p.Phe144fs)	MEN1	Pathogenic	11	64577150	64577153	GAAG	AAT	criteria provided, single submitter	ClinGen:CA645369509
Deletion	NM_001370259.2(MEN1):c.417del (p.His139fs)	MEN1	Pathogenic	11	64577165	64577165	TG	T	criteria provided, single submitter	ClinGen:CA645369510
single nucleotide variant	NM_001370259.2(MEN1):c.416A>G (p.His139Arg)	MEN1	Pathogenic	11	64577166	64577166	T	C	criteria provided, single submitter	ClinGen:CA381186797
Deletion	NM_001370259.2(MEN1):c.378del (p.Ile125_Trp126insTer)	MEN1	Pathogenic	11	64577204	64577204	TC	T	criteria provided, single submitter	ClinGen:CA475163318
Deletion	NM_001370259.2(MEN1):c.336del (p.Ser113fs)	MEN1	Pathogenic	11	64577246	64577246	AG	A	criteria provided, single submitter	ClinGen:CA645369559
Deletion	NM_001370259.2(MEN1):c.273_276del (p.Arg92fs)	MEN1	Pathogenic	11	64577306	64577309	AGCGG	A	criteria provided, single submitter	ClinGen:CA645369560
single nucleotide variant	NM_001370259.2(MEN1):c.270T>A (p.Tyr90Ter)	MEN1	Pathogenic	11	64577312	64577312	A	T	criteria provided, single submitter	ClinGen:CA381187515