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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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.1739del (p.Thr580fs)	MEN1	Likely pathogenic	11	64571900	64571900	CG	C	criteria provided, single submitter	ClinGen:CA348208
single nucleotide variant	NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)	MEN1	Pathogenic	11	64572643	64572643	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349734
single nucleotide variant	NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	RET	Pathogenic/Likely pathogenic	10	43610046	43610046	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA036775
single nucleotide variant	NM_001370259.2(MEN1):c.1351-1G>A	MEN1	Pathogenic	11	64572289	64572289	C	T	criteria provided, single submitter	ClinGen:CA10582930
single nucleotide variant	NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)	MEN1	Pathogenic/Likely pathogenic	11	64575041	64575041	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582938
Deletion	NM_001370259.2(MEN1):c.633del (p.Asn212fs)	MEN1	Pathogenic	11	64575384	64575384	TG	T	criteria provided, single submitter	ClinGen:CA10582940
single nucleotide variant	NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter)	MEN1	Pathogenic	11	64577224	64577224	T	A	criteria provided, single submitter	ClinGen:CA10582945
Deletion	NM_001370259.2(MEN1):c.323del (p.Arg108fs)	MEN1	Pathogenic	11	64577259	64577259	TC	T	criteria provided, single submitter	ClinGen:CA10582946
Deletion	NM_001370259.2(MEN1):c.1590del (p.Gly531fs)	MEN1	Pathogenic	11	64572049	64572049	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588526
Deletion	NM_001370259.2(MEN1):c.1464del (p.Lys488fs)	MEN1	Pathogenic	11	64572175	64572175	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588527