遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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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.3689_3690del (p.Ser1230fs)	BRCA2	Pathogenic	13	32912180	32912181	TTC	T	reviewed by expert panel	ClinGen:CA354139
Deletion	NM_000059.4(BRCA2):c.8419_8428del (p.Ser2807fs)	BRCA2	Pathogenic	13	32944623	32944632	ATCATCGCTTT	A	reviewed by expert panel	ClinGen:CA354140
Deletion	NM_007294.3(BRCA1):c.81-?_134+?del	BRCA1	Pathogenic/Likely pathogenic	17	41267743	41267796	na	na	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs)	BRCA1	Pathogenic	17	41243918	41243919	C	CT	reviewed by expert panel	ClinGen:CA10576019
Deletion	NM_000059.4(BRCA2):c.1329del (p.Asn444fs)	BRCA2	Pathogenic	13	32906944	32906944	AG	A	reviewed by expert panel	ClinGen:CA10576062
Deletion	NM_000059.4(BRCA2):c.3323del (p.Lys1108fs)	BRCA2	Pathogenic	13	32911812	32911812	CA	C	reviewed by expert panel	ClinGen:CA10576064
Deletion	NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs)	BRCA2	Pathogenic	13	32913106	32913107	CTT	C	reviewed by expert panel	ClinGen:CA10576066
Deletion	NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs)	BRCA2	Pathogenic	13	32913111	32913115	GACAAA	G	reviewed by expert panel	ClinGen:CA10576067
Duplication	NM_000059.4(BRCA2):c.5166dup (p.Thr1723fs)	BRCA2	Pathogenic	13	32913657	32913658	G	GT	reviewed by expert panel	ClinGen:CA10576068
Deletion	NM_000059.4(BRCA2):c.7575del (p.Ala2526fs)	BRCA2	Pathogenic	13	32930704	32930704	CA	C	reviewed by expert panel	ClinGen:CA10576071