遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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_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
single nucleotide variant	NM_007294.4(BRCA1):c.5332+2T>C	BRCA1	Pathogenic	17	41203078	41203078	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590890
single nucleotide variant	NM_007294.4(BRCA1):c.5332+1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41203079	41203079	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590891
single nucleotide variant	NM_007294.4(BRCA1):c.5297T>A (p.Ile1766Asn)	BRCA1	Pathogenic	17	41203115	41203115	A	T	criteria provided, single submitter	ClinGen:CA10590955
single nucleotide variant	NM_007294.4(BRCA1):c.5278-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41203136	41203136	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590992