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.3531_3532del (p.Asp1177fs)	BRCA2	Pathogenic	13	32912022	32912023	GAC	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3880_3884del (p.Leu1294fs)	BRCA2	Pathogenic	13	32912371	32912375	TATTAC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter)	BRCA2	Pathogenic	13	32912855	32912855	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4592_4593del (p.Lys1531fs)	BRCA2	Pathogenic	13	32913080	32913081	GAA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4859_4878del (p.Leu1620fs)	BRCA2	Pathogenic	13	32913350	32913369	TTTATGTAGACAAACTGAAAA	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5189del (p.Asn1730fs)	BRCA2	Pathogenic	13	32913677	32913677	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.5212dup (p.Thr1738fs)	BRCA2	Pathogenic	13	32913703	32913704	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.6195del (p.Val2066fs)	BRCA2	Pathogenic	13	32914686	32914686	CA	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.6447_6460del (p.Lys2150fs)	BRCA2	Pathogenic	13	32914937	32914950	TATTAAAGTTTCTCC	T	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.7379dup (p.Asn2460fs)	BRCA2	Pathogenic	13	32929364	32929365	C	CA	criteria provided, single submitter	-