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
single nucleotide variant	NM_058216.3(RAD51C):c.532C>T (p.Gln178Ter)	RAD51C	Pathogenic	17	56774181	56774181	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.106_109del (p.Ser36fs)	BRCA2	Pathogenic	13	32893249	32893252	ACTTT	A	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.223_224insA (p.Ala75fs)	BRCA2	Pathogenic	13	32893369	32893370	G	GA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.275_276insCCAT (p.Gln92fs)	BRCA2	Pathogenic	13	32893421	32893422	A	ACCAT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.465_466insT (p.Asp156Ter)	BRCA2	Pathogenic	13	32900277	32900278	A	AT	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.468dup (p.Lys157Ter)	BRCA2	Pathogenic	13	32900279	32900280	A	AT	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.488dup (p.Ser163fs)	BRCA2	Pathogenic	13	32900390	32900391	A	AG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.515_516insC (p.Lys172fs)	BRCA2	Pathogenic	13	32900418	32900419	A	AC	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.565dup (p.Asp189fs)	BRCA2	Pathogenic	13	32900682	32900683	T	TG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.568_569insAACG (p.Pro190fs)	BRCA2	Pathogenic	13	32900687	32900688	C	CAACG	reviewed by expert panel	-