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.7829dup (p.Asp2611fs)	BRCA2	Pathogenic	13	32936682	32936683	G	GT	reviewed by expert panel	ClinGen:CA645509331
Deletion	NM_000059.4(BRCA2):c.8090_8105del (p.Ser2697fs)	BRCA2	Pathogenic	13	32937426	32937441	TTGAGCGCAAATATATC	T	reviewed by expert panel	ClinGen:CA645509332
Duplication	NM_000059.4(BRCA2):c.8396dup (p.Pro2800fs)	BRCA2	Pathogenic	13	32944602	32944603	A	AG	reviewed by expert panel	ClinGen:CA645509334
Deletion	NC_000017.11:g.(43047704_43049120)_(43049195_43051062)del	BRCA1	Pathogenic	17	41199721	41203079	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41219713_41222944)_(41267797_41276033)del	BRCA1	Pathogenic	17	41219713	41276033	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup	BRCA1	Pathogenic	17	41228632	41242960	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41228632_41234420)_(41251898_41256138)del	BRCA1	Pathogenic	17	41228632	41256138	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41228632_41234420)_(41276114_?)del	BRCA1	Pathogenic	17	41228632	41276114	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41249307_41251791)_(41251898_41256138)del	BRCA1	Pathogenic	17	41249307	41256138	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41251852_41256215)_(41258551_41267742)del	BRCA1	Pathogenic	17	41251852	41267742	na	na	criteria provided, single submitter	-