多発性内分泌腫瘍症1型、2A・2B型／甲状腺髄様がん

最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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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.495C>A (p.Cys165Ter)	MEN1	Pathogenic	11	64575522	64575522	G	T	criteria provided, single submitter	-
Indel	NM_001370259.2(MEN1):c.406_415delinsTCCCT (p.Asp136fs)	MEN1	Pathogenic	11	64577167	64577176	GGGCCCGATC	AGGGA	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly)	MEN1	Pathogenic	11	64577448	64577448	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala)	MEN1	Pathogenic	11	64577457	64577457	C	G	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_43100449)_(43102639_?)del	RET	Likely pathogenic	10	43595897	43598087	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.446-1G>C	MEN1	Pathogenic	11	64575572	64575572	C	G	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_64804324)_(64810716_?)del	MEN1	Pathogenic	11	64571796	64578188	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001370259.2(MEN1):c.1050-2A>G	MEN1	Pathogenic	11	64573244	64573244	T	C	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.623_1050-143del	MEN1	Pathogenic	11	64573385	64575394	GCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGC	G	criteria provided, single submitter	-
Deletion	NM_001370259.2(MEN1):c.655-15_658del	MEN1	Likely pathogenic	11	64575149	64575167	CAGCTCTTAGGGGGGGATGA	C	criteria provided, single submitter	-