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.2850dup (p.Arg951Ter)	BRCA1	Pathogenic	17	41244697	41244698	T	TA	reviewed by expert panel	ClinGen:CA10589808
Deletion	NM_007294.4(BRCA1):c.2843del (p.Gly948fs)	BRCA1	Pathogenic	17	41244705	41244705	TC	T	reviewed by expert panel	ClinGen:CA10589809
Deletion	NM_007294.4(BRCA1):c.2823del (p.Asn941fs)	BRCA1	Pathogenic	17	41244725	41244725	CA	C	reviewed by expert panel	ClinGen:CA10589810
Deletion	NM_007294.4(BRCA1):c.2814del (p.Val939fs)	BRCA1	Pathogenic	17	41244734	41244734	CT	C	reviewed by expert panel	ClinGen:CA10589811
Insertion	NM_007294.4(BRCA1):c.2787_2788insTTATCACTGCAGGCTTT (p.Pro930fs)	BRCA1	Pathogenic	17	41244760	41244761	G	GAAAGCCTGCAGTGATAA	reviewed by expert panel	ClinGen:CA10589812
Duplication	NM_007294.4(BRCA1):c.2778dup (p.Ala927fs)	BRCA1	Pathogenic	17	41244769	41244770	C	CA	reviewed by expert panel	ClinGen:CA10589813
Deletion	NM_007294.4(BRCA1):c.2776_2777del (p.Thr926fs)	BRCA1	Pathogenic	17	41244771	41244772	AGT	A	reviewed by expert panel	ClinGen:CA10589814
Insertion	NM_007294.4(BRCA1):c.2776_2777insTA (p.Thr926fs)	BRCA1	Pathogenic	17	41244771	41244772	G	GTA	reviewed by expert panel	ClinGen:CA10589815
Indel	NM_007294.4(BRCA1):c.2753_2755delinsCA (p.Lys918fs)	BRCA1	Pathogenic	17	41244793	41244795	GCT	TG	reviewed by expert panel	ClinGen:CA10589816
Deletion	NM_007294.4(BRCA1):c.2751del (p.Lys918fs)	BRCA1	Pathogenic	17	41244797	41244797	TG	T	reviewed by expert panel	ClinGen:CA10589817