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.466G>C (p.Gly156Arg)	MEN1	Pathogenic/Likely pathogenic	11	64575551	64575551	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381186242
Deletion	NM_001370259.2(MEN1):c.168del (p.Asn57fs)	MEN1	Pathogenic/Likely pathogenic	11	64577414	64577414	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613697
single nucleotide variant	NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)	MEN1	Pathogenic/Likely pathogenic	11	64577447	64577447	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613432
single nucleotide variant	NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)	MEN1	Pathogenic/Likely pathogenic	11	64575550	64575550	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605985
single nucleotide variant	NM_001370259.2(MEN1):c.913-1G>A	MEN1	Pathogenic/Likely pathogenic	11	64573841	64573841	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042860
Deletion	NM_001370259.2(MEN1):c.1174del (p.Glu392fs)	MEN1	Pathogenic/Likely pathogenic	11	64573118	64573118	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588530
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
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.1664G>A (p.Ser555Asn)	MEN1	Pathogenic/Likely pathogenic	11	64571975	64571975	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338972
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