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.4171del (p.Glu1391fs)	BRCA2	Pathogenic	13	32912662	32912662	TG	T	reviewed by expert panel	ClinGen:CA019663
Deletion	NM_000059.4(BRCA2):c.4188del (p.Glu1397fs)	BRCA2	Pathogenic	13	32912679	32912679	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4416&base_change=del A,ClinGen:CA019693
Deletion	NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)	BRCA2	Pathogenic	13	32912708	32912711	TAAAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4446&base_change=del AGAA,ClinGen:CA019739
Deletion	NM_000059.4(BRCA2):c.4223del (p.Gln1408fs)	BRCA2	Pathogenic	13	32912715	32912715	CA	C	reviewed by expert panel	ClinGen:CA019749
Deletion	NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)	BRCA2	Pathogenic	13	32912750	32912750	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4486&base_change=del G,ClinGen:CA019805
Deletion	NM_000059.4(BRCA2):c.4271del (p.Ser1424fs)	BRCA2	Pathogenic	13	32912763	32912763	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4499&base_change=del C,ClinGen:CA019882
single nucleotide variant	NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter)	BRCA2	Pathogenic	13	32912777	32912777	C	T	reviewed by expert panel	ClinGen:CA019916
Deletion	NM_000059.4(BRCA2):c.4314del (p.Ala1439fs)	BRCA2	Pathogenic	13	32912806	32912806	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4542&base_change=del C,ClinGen:CA019954
single nucleotide variant	NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)	BRCA2	Pathogenic	13	32912817	32912817	C	A	reviewed by expert panel	ClinGen:CA019986
Deletion	NM_000059.4(BRCA2):c.4339del (p.Ile1446_Val1447insTer)	BRCA2	Pathogenic	13	32912831	32912831	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4567&base_change=del G,ClinGen:CA020014