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.758C>A (p.Ser253Ter)	MEN1	Likely pathogenic	11	64575049	64575049	G	T	criteria provided, single submitter	ClinGen:CA009595
single nucleotide variant	NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)	MEN1	Pathogenic	11	64573817	64573817	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009655
Duplication	NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)	MEN1	Likely pathogenic	11	64573797	64573798	T	TA	criteria provided, single submitter	ClinGen:CA260475
single nucleotide variant	NM_020975.6(RET):c.1880-2A>G	RET	Likely pathogenic	10	43609926	43609926	A	G	criteria provided, single submitter	ClinGen:CA008131
single nucleotide variant	NM_020975.6(RET):c.1826G>T (p.Cys609Phe)	RET	Pathogenic	10	43609070	43609070	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007843
single nucleotide variant	NM_020975.6(RET):c.1826G>C (p.Cys609Ser)	RET	Pathogenic	10	43609070	43609070	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020975.6(RET):c.1831T>A (p.Cys611Ser)	RET	Pathogenic	10	43609075	43609075	T	A	criteria provided, single submitter	UniProtKB:P07949#VAR_009474
single nucleotide variant	NM_020975.6(RET):c.1852T>A (p.Cys618Ser)	RET	Pathogenic	10	43609096	43609096	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007974,UniProtKB:P07949#VAR_006313
single nucleotide variant	NM_020975.6(RET):c.1858T>A (p.Cys620Ser)	RET	Pathogenic	10	43609102	43609102	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008047,UniProtKB:P07949#VAR_006317
single nucleotide variant	NM_020975.6(RET):c.1900T>A (p.Cys634Ser)	RET	Pathogenic	10	43609948	43609948	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008307,UniProtKB:P07949#VAR_006327