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
single nucleotide variant	NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)	MEN1	Pathogenic/Likely pathogenic	11	64577517	64577517	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009546,UniProtKB:O00255#VAR_005426,OMIM:613733.0001
single nucleotide variant	NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)	MEN1	Pathogenic/Likely pathogenic	11	64577506	64577506	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009584,UniProtKB:O00255#VAR_005427,OMIM:613733.0013
Deletion	NM_001370259.2(MEN1):c.79_88del (p.Leu27fs)	MEN1	Pathogenic	11	64577494	64577503	TCTCGGCCCAG	T	criteria provided, single submitter	ClinGen:CA009623
single nucleotide variant	NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)	MEN1	Pathogenic	11	64577497	64577497	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009645
Duplication	NM_001370259.2(MEN1):c.105dup (p.Leu36fs)	MEN1	Pathogenic	11	64577476	64577477	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619368
Deletion	NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del)	MEN1	Pathogenic/Likely pathogenic	11	64577460	64577474	CAGCACCAAGGAAAGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369572
single nucleotide variant	NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)	MEN1	Pathogenic/Likely pathogenic	11	64577469	64577469	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009043
single nucleotide variant	NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala)	MEN1	Pathogenic	11	64577457	64577457	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.125G>T (p.Gly42Val)	MEN1	Likely pathogenic	11	64577457	64577457	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)	MEN1	Pathogenic	11	64577449	64577449	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381187857