多発性内分泌腫瘍症1型、2A・2B型／甲状腺髄様がん

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.491C>T (p.Ala164Val)	MEN1	Likely pathogenic	11	64575526	64575526	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.458A>T (p.Asp153Val)	MEN1	Pathogenic	11	64575559	64575559	T	A	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.386del (p.Leu129fs)	MEN1	Pathogenic	11	64577196	64577196	GA	G	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs)	MEN1	Pathogenic	11	64577259	64577260	C	CA	criteria provided, single submitter	-
Deletion	NM_000244.3(MEN1):c.1366_*820del1303 (p.Val456_Ter(616_?)(?))	MEN1	Pathogenic	11	64570986	64572288	ATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCAC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu)	MEN1	Likely pathogenic	11	64574544	64574544	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter)	MEN1	Pathogenic	11	64575148	64575148	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)	MEN1	Pathogenic	11	64575539	64575539	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)	MEN1	Likely pathogenic	11	64573175	64573175	G	A	criteria provided, single submitter	-
Duplication	NM_020975.6(RET):c.2865dup (p.Pro956fs)	RET	Pathogenic	10	43619180	43619181	A	AT	criteria provided, single submitter	-