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.1938_1945del (p.Ser646fs)	BRCA1	Pathogenic	17	41245603	41245610	TCTTCACTG	T	reviewed by expert panel	ClinGen:CA10589906
single nucleotide variant	NM_007294.4(BRCA1):c.1942G>T (p.Glu648Ter)	BRCA1	Pathogenic	17	41245606	41245606	C	A	reviewed by expert panel	ClinGen:CA10589907
Deletion	NM_007294.4(BRCA1):c.1930del (p.Cys644fs)	BRCA1	Pathogenic	17	41245618	41245618	CA	C	reviewed by expert panel	ClinGen:CA10589908
single nucleotide variant	NM_007294.4(BRCA1):c.1918C>T (p.Gln640Ter)	BRCA1	Pathogenic	17	41245630	41245630	G	A	reviewed by expert panel	ClinGen:CA10589909
Deletion	NM_007294.4(BRCA1):c.1908_1911del (p.Cys636fs)	BRCA1	Pathogenic	17	41245637	41245640	CAGTA	C	reviewed by expert panel	ClinGen:CA10589910
Deletion	NM_007294.4(BRCA1):c.1905_1909del (p.Asn635_Cys636insTer)	BRCA1	Pathogenic	17	41245639	41245643	GTACAA	G	reviewed by expert panel	ClinGen:CA10589911
Duplication	NM_007294.4(BRCA1):c.1887_1900dup (p.Pro634delinsGlnIleTer)	BRCA1	Pathogenic	17	41245647	41245648	G	GGTGGGCTTAGATTT	reviewed by expert panel	ClinGen:CA10589912
Deletion	NM_007294.4(BRCA1):c.1885del (p.Arg629fs)	BRCA1	Pathogenic	17	41245663	41245663	CT	C	reviewed by expert panel	ClinGen:CA10589913
Insertion	NM_007294.4(BRCA1):c.1878_1879insTAGT (p.Val627Ter)	BRCA1	Pathogenic	17	41245669	41245670	C	CACTA	reviewed by expert panel	ClinGen:CA10589914
Deletion	NM_007294.4(BRCA1):c.1847del (p.Ser616fs)	BRCA1	Pathogenic	17	41245701	41245701	AG	A	reviewed by expert panel	ClinGen:CA10589915