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.3864_3865del (p.Asn1288fs)	BRCA2	Pathogenic	13	32912355	32912356	AAT	A	reviewed by expert panel	ClinGen:CA10586518
Deletion	NM_000059.4(BRCA2):c.3957_3960del (p.Asn1319fs)	BRCA2	Pathogenic	13	32912447	32912450	AAATG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4184&base_change=del ATGA,ClinGen:CA019261
Duplication	NM_000059.4(BRCA2):c.4042dup (p.Cys1348fs)	BRCA2	Pathogenic	13	32912531	32912532	G	GT	reviewed by expert panel	ClinGen:CA10586519
single nucleotide variant	NM_000059.4(BRCA2):c.4154C>A (p.Ser1385Ter)	BRCA2	Pathogenic	13	32912646	32912646	C	A	reviewed by expert panel	ClinGen:CA10586520
Deletion	NM_000059.4(BRCA2):c.4162_4166del (p.Thr1388fs)	BRCA2	Pathogenic	13	32912654	32912658	AACTTT	A	reviewed by expert panel	ClinGen:CA6940757
Indel	NM_000059.4(BRCA2):c.4252_4255delinsT (p.Ile1418_Lys1419delinsTer)	BRCA2	Pathogenic	13	32912744	32912747	ATAA	T	reviewed by expert panel	ClinGen:CA10586521
Deletion	NM_000059.4(BRCA2):c.4418del (p.Asn1473fs)	BRCA2	Pathogenic	13	32912909	32912909	GA	G	reviewed by expert panel	ClinGen:CA10586522
single nucleotide variant	NM_000059.4(BRCA2):c.4465A>T (p.Lys1489Ter)	BRCA2	Pathogenic	13	32912957	32912957	A	T	reviewed by expert panel	ClinGen:CA10586523
Deletion	NM_000059.4(BRCA2):c.4533del (p.Glu1511fs)	BRCA2	Pathogenic	13	32913024	32913024	GA	G	reviewed by expert panel	ClinGen:CA10586525
Deletion	NM_000059.4(BRCA2):c.4594_4597del (p.Val1532fs)	BRCA2	Pathogenic	13	32913085	32913088	AAGTT	A	reviewed by expert panel	ClinGen:CA10586526