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
Duplication	NM_007294.4(BRCA1):c.5030_5033dup (p.Asn1678_Leu1679insTer)	BRCA1	Pathogenic	17	41219665	41219666	A	ATTAG	reviewed by expert panel	ClinGen:CA10589628
single nucleotide variant	NM_007294.4(BRCA1):c.5027T>A (p.Leu1676Ter)	BRCA1	Pathogenic	17	41219672	41219672	A	T	reviewed by expert panel	ClinGen:CA10589629
Deletion	NM_007294.4(BRCA1):c.5026_5027del (p.Leu1676fs)	BRCA1	Pathogenic	17	41219672	41219673	TAA	T	reviewed by expert panel	ClinGen:CA10589630
Deletion	NM_007294.4(BRCA1):c.5027del (p.Thr1675_Leu1676insTer)	BRCA1	Pathogenic	17	41219672	41219672	TA	T	reviewed by expert panel	ClinGen:CA10589631
Deletion	NM_007294.4(BRCA1):c.5019del (p.His1673fs)	BRCA1	Pathogenic	17	41219680	41219680	TG	T	reviewed by expert panel	ClinGen:CA10589632
Duplication	NM_007294.4(BRCA1):c.5013dup (p.His1672fs)	BRCA1	Pathogenic	17	41219685	41219686	G	GT	reviewed by expert panel	ClinGen:CA10589633
Duplication	NM_007294.4(BRCA1):c.4995_5007dup (p.Arg1670fs)	BRCA1	Pathogenic	17	41219691	41219692	T	TGGCAAACTTGTAC	reviewed by expert panel	ClinGen:CA10589634
Deletion	NM_007294.4(BRCA1):c.4860_4941del (p.Asp1621fs)	BRCA1	Pathogenic	17	41222990	41223071	TGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCA	T	reviewed by expert panel	ClinGen:CA10589635
Deletion	NM_007294.4(BRCA1):c.4921del (p.Ala1641fs)	BRCA1	Pathogenic	17	41223010	41223010	GC	G	reviewed by expert panel	ClinGen:CA10589636
Deletion	NM_007294.4(BRCA1):c.4887_4893del (p.Glu1629_Glu1630insTer)	BRCA1	Pathogenic	17	41223038	41223044	CACTTTCT	C	reviewed by expert panel	ClinGen:CA10589637