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.6260_6263del (p.Arg2087fs)	BRCA2	Pathogenic	13	32914752	32914755	AGAAC	A	reviewed by expert panel	ClinGen:CA10589364
Deletion	NM_000059.4(BRCA2):c.6262del (p.Thr2088fs)	BRCA2	Pathogenic	13	32914753	32914753	GA	G	reviewed by expert panel	ClinGen:CA10589365
Deletion	NM_000059.4(BRCA2):c.6267_6268del (p.Glu2089_His2090insTer)	BRCA2	Pathogenic	13	32914759	32914760	AGC	A	reviewed by expert panel	ClinGen:CA10589366
Deletion	NM_000059.4(BRCA2):c.6304_6305del (p.Val2102fs)	BRCA2	Pathogenic	13	32914795	32914796	ATG	A	reviewed by expert panel	ClinGen:CA10589367
Deletion	NM_000059.4(BRCA2):c.6313del (p.Ile2105fs)	BRCA2	Pathogenic	13	32914801	32914801	CA	C	reviewed by expert panel	ClinGen:CA10589368
Deletion	NM_000059.4(BRCA2):c.6320del (p.Pro2107fs)	BRCA2	Pathogenic	13	32914811	32914811	TC	T	reviewed by expert panel	ClinGen:CA10589369
Deletion	NM_000059.4(BRCA2):c.6340_6341del (p.Pro2114fs)	BRCA2	Pathogenic	13	32914831	32914832	ACC	A	reviewed by expert panel	ClinGen:CA10589370
Duplication	NM_000059.4(BRCA2):c.6356dup (p.Asn2119fs)	BRCA2	Pathogenic	13	32914845	32914846	T	TA	reviewed by expert panel	ClinGen:CA10589371
Duplication	NM_000059.4(BRCA2):c.6372_6373dup (p.Thr2125fs)	BRCA2	Pathogenic	13	32914859	32914860	G	GAA	reviewed by expert panel	ClinGen:CA10589372
single nucleotide variant	NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter)	BRCA2	Pathogenic	13	32914877	32914877	G	T	reviewed by expert panel	ClinGen:CA10589373