家族性膵がん - MGenReviews

家族性膵がん

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_000059.4(BRCA2):c.682-2A>G	BRCA2	Pathogenic	13	32905054	32905054	A	G	reviewed by expert panel	ClinGen:CA10581585
Deletion	NM_000059.4(BRCA2):c.1906del (p.Ser636fs)	BRCA2	Pathogenic	13	32907520	32907520	AT	A	reviewed by expert panel	ClinGen:CA10581586
Indel	NM_000059.3(BRCA2):c.4391_4393delinsTT (p.Ser1464fs)	BRCA2	Pathogenic	13	32912883	32912885	CTG	TT	reviewed by expert panel	ClinGen:CA10581587
Duplication	NM_000059.4(BRCA2):c.5237_5238dup (p.Asn1747fs)	BRCA2	Pathogenic	13	32913727	32913728	G	GTC	reviewed by expert panel	ClinGen:CA10581588
Deletion	NM_000059.4(BRCA2):c.6588_6589del (p.Lys2196fs)	BRCA2	Pathogenic	13	32915078	32915079	TAA	T	reviewed by expert panel	ClinGen:CA10581589
Deletion	NM_000059.4(BRCA2):c.6696del (p.Ala2233fs)	BRCA2	Pathogenic	13	32915186	32915186	TA	T	reviewed by expert panel	ClinGen:CA10581590
Deletion	NM_000059.4(BRCA2):c.6825del (p.Glu2275fs)	BRCA2	Pathogenic	13	32915317	32915317	AG	A	reviewed by expert panel	ClinGen:CA10581591
Duplication	NM_000059.4(BRCA2):c.7667dup (p.Asn2556fs)	BRCA2	Pathogenic	13	32931923	32931924	C	CA	reviewed by expert panel	ClinGen:CA10581592
Insertion	NM_000059.4(BRCA2):c.7940_7941insC (p.Ser2648fs)	BRCA2	Pathogenic	13	32936794	32936795	T	TC	reviewed by expert panel	ClinGen:CA10581593
Deletion	NM_007294.4(BRCA1):c.5496_5499del (p.Val1833fs)	BRCA1	Pathogenic	17	41197788	41197791	TCACC	T	reviewed by expert panel	ClinGen:CA10581594