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.93del (p.Lys32fs)	BRCA1	Pathogenic	17	41267784	41267784	TG	T	reviewed by expert panel	ClinGen:CA10590040
Duplication	NM_007294.4(BRCA1):c.69dup (p.Cys24fs)	BRCA1	Pathogenic	17	41276044	41276045	A	AC	reviewed by expert panel	ClinGen:CA10590042
Deletion	NM_007294.4(BRCA1):c.68del (p.Glu23fs)	BRCA1	Pathogenic	17	41276046	41276046	CT	C	reviewed by expert panel	ClinGen:CA10590043
Deletion	NM_007294.4(BRCA1):c.62_65del (p.Ile21fs)	BRCA1	Pathogenic	17	41276049	41276052	TAAGA	T	reviewed by expert panel	ClinGen:CA10590044
Deletion	NM_007294.4(BRCA1):c.22_50del (p.Val8fs)	BRCA1	Pathogenic	17	41276064	41276092	AGCATTAATGACATTTTGTACTTCTTCAAC	A	reviewed by expert panel	ClinGen:CA10590045
Deletion	NM_007294.4(BRCA1):c.40_41del (p.Val14fs)	BRCA1	Pathogenic	17	41276073	41276074	GAC	G	reviewed by expert panel	ClinGen:CA10590046
Deletion	NM_007294.4(BRCA1):c.40del (p.Val14fs)	BRCA1	Pathogenic	17	41276074	41276074	AC	A	reviewed by expert panel	ClinGen:CA10590047
Deletion	NM_007294.4(BRCA1):c.36_39del (p.Asn13fs)	BRCA1	Pathogenic	17	41276075	41276078	CATTT	C	reviewed by expert panel	ClinGen:CA10590048
Deletion	NM_000059.4(BRCA2):c.7843_7844del (p.Ile2615fs)	BRCA2	Pathogenic	13	32936696	32936697	TTA	T	reviewed by expert panel	ClinGen:CA10590057
Deletion	NM_007294.4(BRCA1):c.5407_5414delGGTGTCCA (p.Gly1803fs)	BRCA1	Pathogenic	17	41199713	41199720	GTGGACACC	G	reviewed by expert panel	ClinGen:CA10590059