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.7285del (p.Glu2429fs)	BRCA2	Pathogenic	13	32929274	32929274	TG	T	reviewed by expert panel	ClinGen:CA10586571
Deletion	NM_000059.4(BRCA2):c.7350_7354del (p.Asn2450fs)	BRCA2	Pathogenic	13	32929339	32929343	AATGAC	A	reviewed by expert panel	ClinGen:CA10586572
Deletion	NM_000059.4(BRCA2):c.7382del (p.Asn2461fs)	BRCA2	Pathogenic	13	32929371	32929371	CA	C	reviewed by expert panel	ClinGen:CA10586573
Deletion	NM_000059.4(BRCA2):c.7415del (p.Lys2472fs)	BRCA2	Pathogenic	13	32929403	32929403	CA	C	reviewed by expert panel	ClinGen:CA10586574
Duplication	NM_000059.4(BRCA2):c.7433dup (p.Leu2478fs)	BRCA2	Pathogenic	13	32929420	32929421	C	CT	reviewed by expert panel	ClinGen:CA6941090
Insertion	NM_000059.4(BRCA2):c.7464_7465insTA (p.Asp2489Ter)	BRCA2	Pathogenic	13	32930592	32930593	G	GAT	reviewed by expert panel	ClinGen:CA10586575,OMIM:600185.0018
Deletion	NM_000059.4(BRCA2):c.7471del (p.Gln2491fs)	BRCA2	Pathogenic	13	32930600	32930600	AC	A	reviewed by expert panel	ClinGen:CA10586576
Deletion	NM_000059.4(BRCA2):c.7485del (p.Lys2496fs)	BRCA2	Pathogenic	13	32930613	32930613	AT	A	reviewed by expert panel	ClinGen:CA10586577
Insertion	NM_000059.4(BRCA2):c.7486_7487insT (p.Lys2496fs)	BRCA2	Pathogenic	13	32930615	32930616	A	AT	reviewed by expert panel	ClinGen:CA10586578
Deletion	NM_000059.4(BRCA2):c.7549_7550del (p.Thr2517fs)	BRCA2	Pathogenic	13	32930677	32930678	CCA	C	reviewed by expert panel	ClinGen:CA10586579