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
single nucleotide variant	NM_007294.4(BRCA1):c.2864C>G (p.Ser955Ter)	BRCA1	Pathogenic	17	41244684	41244684	G	C	reviewed by expert panel	ClinGen:CA10589804
Deletion	NM_007294.4(BRCA1):c.2861_2864del (p.Leu954fs)	BRCA1	Pathogenic	17	41244684	41244687	TGATA	T	reviewed by expert panel	ClinGen:CA10589805
Duplication	NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)	BRCA1	Pathogenic	17	41244686	41244687	T	TA	reviewed by expert panel	ClinGen:CA10589806
Insertion	NM_007294.4(BRCA1):c.2850_2851insC (p.Arg951fs)	BRCA1	Pathogenic	17	41244697	41244698	T	TG	reviewed by expert panel	ClinGen:CA10589807
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