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
Duplication	NM_000059.4(BRCA2):c.594_598dup (p.Thr200fs)	BRCA2	Pathogenic	13	32900712	32900713	T	TAGCTA	reviewed by expert panel	ClinGen:CA10589036
Deletion	NM_000059.4(BRCA2):c.595_598del (p.Ala199fs)	BRCA2	Pathogenic	13	32900712	32900715	TTAGC	T	reviewed by expert panel	ClinGen:CA10589037
Insertion	NM_000059.4(BRCA2):c.613_614insTGAG (p.Ser205fs)	BRCA2	Pathogenic	13	32900732	32900733	A	ATGAG	reviewed by expert panel	ClinGen:CA10589038
single nucleotide variant	NM_000059.4(BRCA2):c.643G>T (p.Glu215Ter)	BRCA2	Pathogenic	13	32903591	32903591	G	T	reviewed by expert panel	ClinGen:CA10589039
Deletion	NM_000059.4(BRCA2):c.664_665del (p.Pro222fs)	BRCA2	Pathogenic	13	32903612	32903613	TCC	T	reviewed by expert panel	ClinGen:CA10589040
Duplication	NM_000059.4(BRCA2):c.694dup (p.Tyr232fs)	BRCA2	Pathogenic	13	32905067	32905068	C	CT	reviewed by expert panel	ClinGen:CA10589041
Duplication	NM_000059.4(BRCA2):c.715dup (p.Ser239fs)	BRCA2	Pathogenic	13	32905086	32905087	G	GA	reviewed by expert panel	ClinGen:CA10589042
Deletion	NM_000059.4(BRCA2):c.723del (p.Asn243fs)	BRCA2	Pathogenic	13	32905097	32905097	AG	A	reviewed by expert panel	ClinGen:CA10589043
Duplication	NM_000059.4(BRCA2):c.728dup (p.Asn243fs)	BRCA2	Pathogenic	13	32905097	32905098	G	GA	reviewed by expert panel	ClinGen:CA10589044
Insertion	NM_000059.4(BRCA2):c.729_730insC (p.Asp244fs)	BRCA2	Pathogenic	13	32905103	32905104	T	TC	reviewed by expert panel	ClinGen:CA10589045