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.1428_1437del (p.His476fs)	BRCA1	Pathogenic	17	41246111	41246120	TTTCAGTTACA	T	reviewed by expert panel	ClinGen:CA10589937
Deletion	NM_007294.4(BRCA1):c.1419_1422del (p.Asn473fs)	BRCA1	Pathogenic	17	41246126	41246129	TTAAG	T	reviewed by expert panel	ClinGen:CA10589938
Duplication	NM_007294.4(BRCA1):c.1412dup (p.Asn473fs)	BRCA1	Pathogenic	17	41246135	41246136	G	GA	reviewed by expert panel	ClinGen:CA10589939
Duplication	NM_007294.4(BRCA1):c.1390dup (p.Thr464fs)	BRCA1	Pathogenic	17	41246157	41246158	G	GT	reviewed by expert panel	ClinGen:CA10589940
Deletion	NM_007294.4(BRCA1):c.1379del (p.Ile460fs)	BRCA1	Pathogenic	17	41246169	41246169	TA	T	reviewed by expert panel	ClinGen:CA10589941
Duplication	NM_007294.4(BRCA1):c.1378dup (p.Ile460fs)	BRCA1	Pathogenic	17	41246169	41246170	A	AT	reviewed by expert panel	ClinGen:CA10589942
single nucleotide variant	NM_007294.4(BRCA1):c.1375A>T (p.Lys459Ter)	BRCA1	Pathogenic	17	41246173	41246173	T	A	reviewed by expert panel	ClinGen:CA10589943
Deletion	NM_007294.4(BRCA1):c.1354del (p.Ser451_Val452insTer)	BRCA1	Pathogenic	17	41246194	41246194	AC	A	reviewed by expert panel	ClinGen:CA10589944
Deletion	NM_007294.4(BRCA1):c.1347del (p.Lys450fs)	BRCA1	Pathogenic	17	41246201	41246201	TG	T	reviewed by expert panel	ClinGen:CA10589945
Deletion	NM_007294.4(BRCA1):c.1327_1345del (p.Lys443fs)	BRCA1	Pathogenic	17	41246203	41246221	GAGTGAACTCTTTCACTTTT	G	reviewed by expert panel	ClinGen:CA10589946