遺伝性乳がん・卵巣がん症候群

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
Insertion	NM_000059.4(BRCA2):c.5651_5652insA (p.Cys1885fs)	BRCA2	Pathogenic	13	32914143	32914144	T	TA	reviewed by expert panel	ClinGen:CA10589323
Duplication	NM_000059.4(BRCA2):c.5653dup (p.Cys1885fs)	BRCA2	Pathogenic	13	32914142	32914143	A	AT	reviewed by expert panel	ClinGen:CA10589324
Insertion	NM_000059.4(BRCA2):c.5677_5678insA (p.Cys1893Ter)	BRCA2	Pathogenic	13	32914169	32914170	T	TA	reviewed by expert panel	ClinGen:CA10589325
Deletion	NM_000059.4(BRCA2):c.5701_5714del (p.Ser1900_Glu1901insTer)	BRCA2	Pathogenic	13	32914189	32914202	ATTCAGAGGATATTC	A	reviewed by expert panel	ClinGen:CA10589326
Deletion	NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs)	BRCA2	Pathogenic	13	32914215	32914216	CTA	C	reviewed by expert panel	ClinGen:CA10589327
single nucleotide variant	NM_000059.4(BRCA2):c.5750C>A (p.Ser1917Ter)	BRCA2	Pathogenic	13	32914242	32914242	C	A	reviewed by expert panel	ClinGen:CA10589328
single nucleotide variant	NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter)	BRCA2	Pathogenic	13	32914292	32914292	C	T	reviewed by expert panel	ClinGen:CA10589329
Deletion	NM_000059.4(BRCA2):c.5809_5812del (p.Ser1937fs)	BRCA2	Pathogenic	13	32914299	32914302	ATGTC	A	reviewed by expert panel	ClinGen:CA10589330
Deletion	NM_000059.4(BRCA2):c.5811_5812del (p.Gly1938fs)	BRCA2	Pathogenic	13	32914303	32914304	CTG	C	reviewed by expert panel	ClinGen:CA10589331
Duplication	NM_000059.4(BRCA2):c.5835_5842dup (p.Cys1948fs)	BRCA2	Pathogenic	13	32914325	32914326	A	ATATCACCT	reviewed by expert panel	ClinGen:CA10589332