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_020975.6(RET):c.2304G>T (p.Glu768Asp)	RET	Pathogenic/Likely pathogenic	10	43613840	43613840	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008648,UniProtKB:P07949#VAR_006335
single nucleotide variant	NM_020975.6(RET):c.2410G>C (p.Val804Leu)	RET	Pathogenic	10	43614996	43614996	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008758,UniProtKB:P07949#VAR_006336
single nucleotide variant	NM_020975.6(RET):c.2752A>G (p.Met918Val)	RET	Pathogenic/Likely pathogenic	10	43617415	43617415	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009073
Indel	NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr)	RET	Pathogenic	10	43609076	43609077	GC	AT	criteria provided, single submitter	-
Indel	NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)	RET	Pathogenic/Likely pathogenic	10	43615568	43615569	GC	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA008962
single nucleotide variant	NM_001370259.2(MEN1):c.654+1G>A	MEN1	Pathogenic	11	64575362	64575362	C	T	criteria provided, multiple submitters, no conflicts	OMIM:613733.0035
single nucleotide variant	NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)	MEN1	Pathogenic/Likely pathogenic	11	64572548	64572548	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009127
single nucleotide variant	NM_001370259.2(MEN1):c.912+1G>A	MEN1	Pathogenic	11	64574482	64574482	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009649
single nucleotide variant	NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)	MEN1	Pathogenic/Likely pathogenic	11	64577579	64577579	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009394
Deletion	NM_020975.6(RET):c.2586_2592del (p.Met862fs)	RET	Pathogenic	10	43615170	43615176	GATGCAGT	G	criteria provided, single submitter	ClinGen:CA008926