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.535G>A (p.Glu179Lys)	MEN1	Likely pathogenic	11	64575482	64575482	C	T	criteria provided, single submitter	ClinGen:CA16619365
single nucleotide variant	NM_001370259.2(MEN1):c.446-1G>A	MEN1	Pathogenic	11	64575572	64575572	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619366
Deletion	NM_001370259.2(MEN1):c.432del (p.Phe144fs)	MEN1	Pathogenic	11	64577150	64577150	TG	T	criteria provided, single submitter	ClinGen:CA16619367
Duplication	NM_001370259.2(MEN1):c.105dup (p.Leu36fs)	MEN1	Pathogenic	11	64577476	64577477	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619368
single nucleotide variant	NM_001370259.2(MEN1):c.658T>C (p.Trp220Arg)	MEN1	Likely pathogenic	11	64575149	64575149	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381185239
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.1708_1728del (p.Ile570_Lys576del)	MEN1	Likely pathogenic	11	64571911	64571931	GCTTGATGGCGCTCGAGTTGAT	G	criteria provided, single submitter	ClinGen:CA645369563
Indel	NM_001370259.2(MEN1):c.1643_1721delinsTG (p.Gly548fs)	MEN1	Pathogenic	11	64571918	64571996	GCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGAC	CA	criteria provided, single submitter	ClinGen:CA645369564
single nucleotide variant	NM_001370259.2(MEN1):c.1669A>G (p.Lys557Glu)	MEN1	Likely pathogenic	11	64571970	64571970	T	C	criteria provided, single submitter	ClinGen:CA381177776
Deletion	NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)	MEN1	Pathogenic/Likely pathogenic	11	64571971	64571974	TCTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369569