家族性膵がん - MGenReviews

家族性膵がん

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
Duplication	NM_000059.4(BRCA2):c.9257-2_9261dup	BRCA2	Pathogenic	13	32968822	32968823	C	CTAGGACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602566
Deletion	NM_000059.4(BRCA2):c.9499_9501+2del	BRCA2	Pathogenic	13	32969067	32969071	TTGAGG	T	criteria provided, single submitter	ClinGen:CA10602567
single nucleotide variant	NM_000059.4(BRCA2):c.9501+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32969071	32969071	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602568
Duplication	NM_007294.4(BRCA1):c.5468-11_5520dup	BRCA1	Pathogenic	17	41197766	41197767	T	TGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGA	criteria provided, single submitter	ClinGen:CA10602569
single nucleotide variant	NM_007294.4(BRCA1):c.5468-2A>T	BRCA1	Pathogenic/Likely pathogenic	17	41197821	41197821	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590411
Deletion	NM_007294.4(BRCA1):c.5467+1del	BRCA1	Pathogenic	17	41199659	41199659	AC	A	criteria provided, single submitter	ClinGen:CA10602570
Deletion	NM_007294.4(BRCA1):c.5333-36_5406+400del	BRCA1	Pathogenic	17	41200738	41201247	CATGTTGGCCAGGCTGGTCTCAAACTCCTGACAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCCAGCCCATCATTTCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGGAGGGGGAGGGACATATGGGAAAAAGAGTTAGAGGGAAAAAGTCTTCCCTCAGTATATTTAATATGTGCAGTTCTCAAATCCTTACCCATCCCTTACAGATGGAGTCTTTTGGCACAGGTATGTGGGCAGAGAAGACTTCTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5452-36&base_change=del 510,ClinGen:CA10602571
Deletion	NM_007294.4(BRCA1):c.5333-198_5387del	BRCA1	Pathogenic	17	41201157	41201409	TGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATGTAC	T	criteria provided, single submitter	ClinGen:CA10602572
single nucleotide variant	NM_007294.4(BRCA1):c.5333-1G>T	BRCA1	Pathogenic	17	41201212	41201212	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590802
Indel	NM_007294.4(BRCA1):c.5331_5332+6delinsCAACAT	BRCA1	Pathogenic	17	41203074	41203081	TCTTACCT	ATGTTG	criteria provided, single submitter	ClinGen:CA10602573

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