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
Duplication	NM_001370259.2(MEN1):c.1247dup (p.Tyr417fs)	MEN1	Pathogenic	11	64572608	64572609	G	GA	criteria provided, single submitter	-
Duplication	NM_001370259.2(MEN1):c.332dup (p.Val112fs)	MEN1	Pathogenic	11	64577249	64577250	A	AC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp)	MEN1	Pathogenic	11	64573189	64573189	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.1049+2T>C	MEN1	Likely pathogenic	11	64573702	64573702	A	G	criteria provided, single submitter	-
Duplication	NM_001370259.2(MEN1):c.1311dup (p.Thr438fs)	MEN1	Likely pathogenic	11	64572544	64572545	T	TG	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.1351-2_*132del	MEN1	Pathogenic	11	64571674	64572290	CGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCT	C	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.1334del (p.Gly445fs)	MEN1	Pathogenic	11	64572522	64572522	GC	G	criteria provided, single submitter	-
Duplication	NM_001370259.2(MEN1):c.1674dup (p.Lys559fs)	MEN1	Pathogenic	11	64571964	64571965	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.1050-2A>T	MEN1	Pathogenic	11	64573244	64573244	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)	MEN1	Pathogenic	11	64575392	64575392	G	A	criteria provided, single submitter	-