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_007294.4(BRCA1):c.3851_3852dup (p.Leu1285fs)	BRCA1	Pathogenic	17	41243695	41243696	G	GGT	reviewed by expert panel	ClinGen:CA002481
Deletion	NM_007294.4(BRCA1):c.3840_3850del (p.Gln1281fs)	BRCA1	Pathogenic	17	41243698	41243708	TGATGTTCCTGA	T	reviewed by expert panel	ClinGen:CA10589719
Deletion	NM_007294.4(BRCA1):c.3839_3843del (p.Ala1279_Ser1280insTer)	BRCA1	Pathogenic	17	41243705	41243709	CCTGAG	C	reviewed by expert panel	ClinGen:CA10589720
Deletion	NM_007294.4(BRCA1):c.3837_3840del (p.Ser1280fs)	BRCA1	Pathogenic	17	41243708	41243711	GAGAT	G	reviewed by expert panel	ClinGen:CA10589721
Duplication	NM_007294.4(BRCA1):c.3821dup (p.Ile1275fs)	BRCA1	Pathogenic	17	41243726	41243727	T	TA	reviewed by expert panel	ClinGen:CA10589722
single nucleotide variant	NM_007294.4(BRCA1):c.3810C>A (p.Cys1270Ter)	BRCA1	Pathogenic	17	41243738	41243738	G	T	reviewed by expert panel	ClinGen:CA10589723
Deletion	NM_007294.4(BRCA1):c.3765del (p.Asn1255fs)	BRCA1	Pathogenic	17	41243783	41243783	TG	T	reviewed by expert panel	ClinGen:CA10589724
Deletion	NM_007294.4(BRCA1):c.3756_3760del (p.Ser1253fs)	BRCA1	Pathogenic	17	41243788	41243792	TTAGAC	T	reviewed by expert panel	ClinGen:CA10589725
Deletion	NM_007294.4(BRCA1):c.3750del (p.Glu1250fs)	BRCA1	Pathogenic	17	41243798	41243798	AC	A	reviewed by expert panel	ClinGen:CA10589726
Deletion	NM_007294.4(BRCA1):c.3731_3743del (p.His1244fs)	BRCA1	Pathogenic	17	41243805	41243817	AGCAACGGTGCTAT	A	reviewed by expert panel	ClinGen:CA10589727