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
Deletion	NM_000059.4(BRCA2):c.5617_5621del (p.Lys1872_Val1873insTer)	BRCA2	Pathogenic	13	32914109	32914113	AGTAAT	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5622_5628del (p.Lys1875fs)	BRCA2	Pathogenic	13	32914114	32914120	TTAAGGAA	T	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.5875_5876delinsTTT (p.Lys1959fs)	BRCA2	Pathogenic	13	32914367	32914368	AA	TTT	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter)	BRCA2	Pathogenic	13	32914724	32914724	G	T	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.6589dup (p.Thr2197fs)	BRCA2	Pathogenic	13	32915077	32915078	T	TA	criteria provided, single submitter	-
Insertion	NM_000059.4(BRCA2):c.6832_6833insAA (p.Ile2278fs)	BRCA2	Pathogenic	13	32915323	32915324	T	TAA	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.7572dup (p.Ala2525fs)	BRCA2	Pathogenic	13	32930698	32930699	G	GA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7676_7677del (p.Ser2559fs)	BRCA2	Pathogenic	13	32931936	32931937	GTC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.7745_7751del (p.Ala2582fs)	BRCA2	Pathogenic	13	32932003	32932009	TTGGCTGA	T	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.7816dup (p.Asp2606fs)	BRCA2	Pathogenic	13	32936669	32936670	T	TG	criteria provided, single submitter	-