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
Deletion	NM_000059.4(BRCA2):c.6008del (p.Ile2003fs)	BRCA2	Pathogenic	13	32914500	32914500	AT	A	reviewed by expert panel	ClinGen:CA10586549
Deletion	NM_000059.4(BRCA2):c.6092del (p.Thr2031fs)	BRCA2	Pathogenic	13	32914584	32914584	AC	A	reviewed by expert panel	ClinGen:CA10586550
Deletion	NM_000059.4(BRCA2):c.6109_6113del (p.Glu2037fs)	BRCA2	Pathogenic	13	32914599	32914603	CCAGAA	C	reviewed by expert panel	ClinGen:CA10586551
Deletion	NM_000059.4(BRCA2):c.6136del (p.Ser2046fs)	BRCA2	Pathogenic	13	32914625	32914625	CT	C	reviewed by expert panel	ClinGen:CA10586552
Deletion	NM_000059.4(BRCA2):c.6152del (p.Asn2051fs)	BRCA2	Pathogenic	13	32914642	32914642	TA	T	reviewed by expert panel	ClinGen:CA10586553
Deletion	NM_000059.4(BRCA2):c.6239del (p.Val2079_Leu2080insTer)	BRCA2	Pathogenic	13	32914730	32914730	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6466&base_change=del T,ClinGen:CA023779
Duplication	NM_000059.4(BRCA2):c.6277dup (p.His2093fs)	BRCA2	Pathogenic	13	32914768	32914769	T	TC	reviewed by expert panel	ClinGen:CA10586554
Deletion	NM_000059.4(BRCA2):c.6361_6362del (p.Glu2121fs)	BRCA2	Pathogenic	13	32914852	32914853	CAG	C	reviewed by expert panel	ClinGen:CA10586555
Deletion	NM_000059.4(BRCA2):c.6393del (p.Lys2131fs)	BRCA2	Pathogenic	13	32914883	32914883	TA	T	reviewed by expert panel	ClinGen:CA10586556
Duplication	NM_000059.4(BRCA2):c.6410dup (p.Asn2137fs)	BRCA2	Pathogenic	13	32914899	32914900	T	TA	reviewed by expert panel	ClinGen:CA10586557