ウィルムス腫瘍 - MGenReviews

ウィルムス腫瘍

腫瘍性疾患

疾患の紹介

病的バリアントリスト

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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/

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
Indel	NM_000059.4(BRCA2):c.7977-3_7977-1delinsAA	BRCA2	Pathogenic/Likely pathogenic	13	32937313	32937315	TAG	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602544
single nucleotide variant	NM_000059.4(BRCA2):c.7977-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32937315	32937315	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602545
single nucleotide variant	NM_000059.4(BRCA2):c.8331+2T>C	BRCA2	Pathogenic/Likely pathogenic	13	32937672	32937672	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602546
single nucleotide variant	NM_000059.4(BRCA2):c.8332-1G>A	BRCA2	Pathogenic	13	32944538	32944538	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602547
single nucleotide variant	NM_000059.4(BRCA2):c.8487+2T>C	BRCA2	Pathogenic	13	32944696	32944696	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602548
single nucleotide variant	NM_000059.4(BRCA2):c.8488-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32945092	32945092	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602549
Deletion	NM_000059.4(BRCA2):c.8633-24_8634del	BRCA2	Pathogenic	13	32950780	32950805	TGAATTAATAATCCTTTTGTTTTCTTA	T	reviewed by expert panel	ClinGen:CA10602550
single nucleotide variant	NM_000059.4(BRCA2):c.8754+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32950929	32950929	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602551
Deletion	NM_000059.4(BRCA2):c.8755-375_9256+681del	BRCA2	Pathogenic	13	32953077	32954961	ACCTACAACACAGAAACAATGATATTACCTACCCCATGGACTGTTGTGAAGATTAAATGAATTAGTACATTTACTACACATAGATCTATTTCTCAAAATAATGAGCATTCAGATATTAGCCATCTGTAATGTAGTTGGTGATGATTATGATTATTAGAGTACATTTATAATTGGAGGATCATTTTTGCCGTAGGGAAATAGAATTATTAATAGTTTGAGGCACCTGAGAATATTATGTGAGAAACTGATTACATTAACCACACCCTTAAGATGAGCTCTAATTTTGTTGTATTTGTCCTGTTTAAAGCCATCTAGTTACAATAGATGGAACTTTTTTGTTCTGATTGCTTTTTATTCCAATATCTTAAATGGTCACAGGGTTATTTCAGTGAAGAGCAGTTAAGAGCCTTGAATAATCACAGGCAAATGTTGAATGATAAGAAACAAGCTCAGATCCAGTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGATTCAGGTAAGTATGTAAATGCTTTGTTTTTATCAGTTTTATTAACTTAAAAAATGACCTTACTAACAAAATGATTATAAATCCAGATAAAGTATAAAGTTAGTTTATATCAGAGAAGCAAAATCCACTACTAATGCCCACAAAGAGATAATATAAAAGAGGATCTGTATTTATTTTGAAACAAACATTTAAATGATAATCACTTCTTCCATTGCATCTTTCTCATCTTTCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTATTTCAGATTTACCAGCCACGGGAGCCCCTTCACTTCAGCAAATTTTTAGATCCAGACTTTCAGCCATCTTGTTCTGAGGTGGACCTAATAGGATTTGTCGTTTCTGTTGTGAAAAAAACAGGTAATGCACAATATAGTTAATTTTTTTTATTGATTCTTTTAAAAAACATTGTCTTTTAAAATCTCTTATGATTAGTTGGAGCTACCAGTTGGCAAATTTGCTAGCTAACTAGTGATCTGAAAGTAAGCCTCTTTGAACCTCTGATTTTTCATGAAAAGCAATTCTCTCAATTCTATATTATTTCAAGGGTAACAAGTTACATCCTAGTCTGTGTACTTAATTTTATAGAAATTGTCCTTAATTTTATTTTCTGCAATTTATGTTTTCTTACTATTTCTGGTGTATGTGTTTATCCCATTGTGATGTTATATTGGTGTCCTCAATTTATTTCCTTAGCCATACACTCTACTTTTCATTGTACAGGGCTATTTATTATCTCAGAGTCAAGCTTTTTTTTTTTTTTTTTTTTCCCCGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCCCACTGCAAGTTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACATATACCCGCCACCGAGCCTGGCCAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTGTTAACCAGGATAGTCTAAATCTCCTGACCTCGTGATCTACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG	A	criteria provided, single submitter	ClinGen:CA10602552
single nucleotide variant	NM_000059.4(BRCA2):c.8953+2T>G	BRCA2	Pathogenic	13	32953654	32953654	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602553

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