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.673G>A (p.Gly225Arg)	MEN1	Likely pathogenic	11	64575134	64575134	C	T	criteria provided, single submitter	ClinGen:CA16605982
single nucleotide variant	NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)	MEN1	Likely pathogenic	11	64575523	64575523	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605984
single nucleotide variant	NM_001370259.2(MEN1):c.783+2T>G	MEN1	Likely pathogenic	11	64575022	64575022	A	C	criteria provided, single submitter	ClinGen:CA16606964
single nucleotide variant	NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)	MEN1	Likely pathogenic	11	64572528	64572528	G	T	criteria provided, single submitter	ClinGen:CA16613613
single nucleotide variant	NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)	MEN1	Likely pathogenic	11	64573744	64573744	C	G	criteria provided, single submitter	ClinGen:CA16613621
single nucleotide variant	NM_001370259.2(MEN1):c.922T>C (p.Ser308Pro)	MEN1	Likely pathogenic	11	64573831	64573831	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619359
single nucleotide variant	NM_001370259.2(MEN1):c.824+5G>A	MEN1	Likely pathogenic	11	64574646	64574646	C	T	criteria provided, single submitter	ClinGen:CA16619361
Deletion	NM_001370259.2(MEN1):c.684del (p.Met228fs)	MEN1	Likely pathogenic	11	64575123	64575123	GC	G	criteria provided, single submitter	ClinGen:CA16619362
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.658T>C (p.Trp220Arg)	MEN1	Likely pathogenic	11	64575149	64575149	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381185239