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
Deletion	NM_001370259.2(MEN1):c.1330del (p.Ser443_Leu444insTer)	MEN1	Pathogenic	11	64572526	64572526	AG	A	criteria provided, single submitter	ClinGen:CA645369571
single nucleotide variant	NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)	MEN1	Pathogenic	11	64572550	64572550	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA223912292
single nucleotide variant	NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)	MEN1	Likely pathogenic	11	64572575	64572575	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381180331
single nucleotide variant	NM_001370259.2(MEN1):c.1270G>T (p.Glu424Ter)	MEN1	Pathogenic	11	64572586	64572586	C	A	criteria provided, single submitter	ClinGen:CA381180398
single nucleotide variant	NM_001370259.2(MEN1):c.1269G>A (p.Trp423Ter)	MEN1	Pathogenic	11	64572587	64572587	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381180410
single nucleotide variant	NM_001370259.2(MEN1):c.1259T>G (p.Ile420Ser)	MEN1	Likely pathogenic	11	64572597	64572597	A	C	criteria provided, single submitter	ClinGen:CA381180473
single nucleotide variant	NM_001370259.2(MEN1):c.1258A>T (p.Ile420Phe)	MEN1	Likely pathogenic	11	64572598	64572598	T	A	criteria provided, single submitter	ClinGen:CA381180479
Deletion	NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)	MEN1	Pathogenic	11	64572602	64572609	CGTCGTAGA	C	criteria provided, single submitter	ClinGen:CA645369505
single nucleotide variant	NM_001370259.2(MEN1):c.1252G>T (p.Asp418Tyr)	MEN1	Pathogenic	11	64572604	64572604	C	A	criteria provided, single submitter	ClinGen:CA381180517
Insertion	NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs)	MEN1	Pathogenic	11	64572631	64572632	A	AGGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369506