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_000059.4(BRCA2):c.5835_5843dup (p.Cys1948Ter)	BRCA2	Pathogenic	13	32914326	32914327	T	TATCACCTTG	reviewed by expert panel	ClinGen:CA023293
Insertion	NM_000059.4(BRCA2):c.5836_5837insA (p.Ser1946fs)	BRCA2	Pathogenic	13	32914328	32914329	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6064&base_change=ins A,ClinGen:CA023285
Duplication	NM_000059.4(BRCA2):c.5851_5854dup (p.Leu1952Ter)	BRCA2	Pathogenic	13	32914339	32914340	T	TGTTA	reviewed by expert panel	ClinGen:CA023304
single nucleotide variant	NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)	BRCA2	Pathogenic	13	32914349	32914349	G	T	reviewed by expert panel	ClinGen:CA023311
Deletion	NM_000059.4(BRCA2):c.5857del (p.Glu1953fs)	BRCA2	Pathogenic	13	32914348	32914348	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6085&base_change=del G,ClinGen:CA023309
single nucleotide variant	NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)	BRCA2	Pathogenic	13	32914356	32914356	C	A	reviewed by expert panel	ClinGen:CA023317
single nucleotide variant	NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter)	BRCA2	Pathogenic	13	32914356	32914356	C	G	reviewed by expert panel	ClinGen:CA023319
Deletion	NM_000059.4(BRCA2):c.5898del (p.His1966fs)	BRCA2	Pathogenic	13	32914390	32914390	AT	A	reviewed by expert panel	ClinGen:CA023351
single nucleotide variant	NM_000059.4(BRCA2):c.5925T>A (p.Cys1975Ter)	BRCA2	Pathogenic	13	32914417	32914417	T	A	reviewed by expert panel	ClinGen:CA023372
Deletion	NM_000059.4(BRCA2):c.5944del (p.Ser1982fs)	BRCA2	Pathogenic	13	32914435	32914435	CA	C	reviewed by expert panel	ClinGen:CA023392