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.5161C>T (p.Gln1721Ter)	BRCA1	Pathogenic	17	41215382	41215382	G	A	reviewed by expert panel	ClinGen:CA10589614
Duplication	NM_007294.3(BRCA1):c.5155dup	BRCA1	Pathogenic	17	41215387	41215388	A	AC	reviewed by expert panel	ClinGen:CA10589615
single nucleotide variant	NM_007294.4(BRCA1):c.5148T>A (p.Tyr1716Ter)	BRCA1	Pathogenic	17	41215895	41215895	A	T	reviewed by expert panel	ClinGen:CA10589616
single nucleotide variant	NM_007294.4(BRCA1):c.5131A>T (p.Lys1711Ter)	BRCA1	Pathogenic	17	41215912	41215912	T	A	reviewed by expert panel	ClinGen:CA10589617
Deletion	NM_007294.4(BRCA1):c.5114_5121del (p.Leu1705fs)	BRCA1	Pathogenic	17	41215922	41215929	CAATTCCTA	C	reviewed by expert panel	ClinGen:CA10589618
Insertion	NM_007294.4(BRCA1):c.5083_5084insG (p.Phe1695fs)	BRCA1	Pathogenic	17	41215959	41215960	A	AC	reviewed by expert panel	ClinGen:CA10589619
Deletion	NM_007294.4(BRCA1):c.5076del (p.Asp1692fs)	BRCA1	Pathogenic	17	41215967	41215967	CA	C	reviewed by expert panel	ClinGen:CA10589620
Deletion	NM_007294.4(BRCA1):c.4987_5074del (p.Val1665Serfs)	BRCA1	Pathogenic	17	41219625	41219712	CCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCAT	C	reviewed by expert panel	LOVD 3:BRCA1_003367,ClinGen:CA10589621
Duplication	NM_007294.4(BRCA1):c.5065dup (p.Met1689fs)	BRCA1	Pathogenic	17	41219633	41219634	A	AT	reviewed by expert panel	ClinGen:CA10589622
Insertion	NM_007294.4(BRCA1):c.5058_5059insCAAC (p.Val1687fs)	BRCA1	Pathogenic	17	41219640	41219641	C	CGTTG	reviewed by expert panel	ClinGen:CA10589623