遺伝性乳がん・卵巣がん症候群 - MGenReviews

遺伝性乳がん・卵巣がん症候群

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
single nucleotide variant	NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32945167	32945167	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3791del (p.Lys1264fs)	BRCA1	Pathogenic/Likely pathogenic	17	41243757	41243757	CT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.3337dup (p.Tyr1113fs)	BRCA1	Pathogenic/Likely pathogenic	17	41244210	41244211	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3113_3114del (p.Glu1038fs)	BRCA1	Pathogenic	17	41244434	41244435	CTT	C	criteria provided, single submitter	-
Indel	NM_007294.4(BRCA1):c.2402_2404delinsCATTTCCCCTATAGCAAAAACATGACGGCACTTACTGTATCAA (p.Cys801_Val802delinsSerPheProLeuTer)	BRCA1	Likely pathogenic	17	41245144	41245146	CAC	TTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATG	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2158_2159del (p.Glu720fs)	BRCA1	Pathogenic	17	41245389	41245390	TTC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.1910-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32910401	32910401	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.7806-1G>A	BRCA2	Pathogenic	13	32936659	32936659	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9649_10257del (p.Met3217_Ter3419del)	BRCA2	Pathogenic	13	32972299	32972907	GATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)	BRCA2	Pathogenic	13	32913945	32913945	C	A	criteria provided, multiple submitters, no conflicts	-

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