家族性膵がん - MGenReviews

家族性膵がん

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_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
Deletion	NM_007294.4(BRCA1):c.2750del (p.Ile917fs)	BRCA1	Pathogenic	17	41244798	41244798	GA	G	reviewed by expert panel	ClinGen:CA10589818
Deletion	NM_007294.4(BRCA1):c.2710del (p.Glu904fs)	BRCA1	Pathogenic	17	41244838	41244838	TC	T	reviewed by expert panel	ClinGen:CA10589820
Deletion	NM_007294.4(BRCA1):c.2704del (p.Glu902fs)	BRCA1	Pathogenic	17	41244844	41244844	TC	T	reviewed by expert panel	ClinGen:CA10589821
Deletion	NM_007294.4(BRCA1):c.2694del (p.Val899fs)	BRCA1	Pathogenic	17	41244854	41244854	CT	C	reviewed by expert panel	ClinGen:CA10589822
Deletion	NM_007294.4(BRCA1):c.2687_2693del (p.Ser896fs)	BRCA1	Pathogenic	17	41244855	41244861	TTTTGGAC	T	reviewed by expert panel	ClinGen:CA10589823
Deletion	NM_007294.4(BRCA1):c.2683_2693del (p.Gln895fs)	BRCA1	Pathogenic	17	41244855	41244865	TTTTGGACTTTG	T	reviewed by expert panel	ClinGen:CA10589824