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.1391del (p.Ala464fs)	MEN1	Likely pathogenic	11	64572248	64572248	CG	C	criteria provided, single submitter	ClinGen:CA645509452
single nucleotide variant	NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)	MEN1	Pathogenic	11	64573814	64573814	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183406
Deletion	NM_001370259.2(MEN1):c.350del (p.Leu117fs)	MEN1	Pathogenic	11	64577232	64577232	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509451
Duplication	NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs)	MEN1	Likely pathogenic	11	64575038	64575039	G	GAAGCTCC	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.*412G>A	MEN1	Likely pathogenic	11	64571394	64571394	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg)	MEN1	Pathogenic	11	64571808	64571808	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter)	MEN1	Pathogenic	11	64573784	64573784	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA381183338
single nucleotide variant	NM_001370259.2(MEN1):c.784-1G>C	MEN1	Pathogenic/Likely pathogenic	11	64574692	64574692	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA381184025
single nucleotide variant	NM_001370259.2(MEN1):c.688T>C (p.Cys230Arg)	MEN1	Likely pathogenic	11	64575119	64575119	A	G	criteria provided, single submitter	ClinGen:CA381184653
Deletion	NM_001370259.2(MEN1):c.940_1050-227del	MEN1	Pathogenic	11	64573469	64573813	TGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCG	T	criteria provided, single submitter	ClinGen:CA658656152