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.2883del (p.Gln961fs)	BRCA2	Pathogenic	13	32911375	32911375	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.3094A>T (p.Lys1032Ter)	BRCA2	Pathogenic	13	32911586	32911586	A	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3241del (p.Cys1081fs)	BRCA2	Pathogenic	13	32911732	32911732	AT	A	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.3259dup (p.Thr1087fs)	BRCA2	Pathogenic	13	32911749	32911750	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912092	32912092	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3696del (p.Ala1233fs)	BRCA2	Pathogenic	13	32912187	32912187	GA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3971del (p.Tyr1324fs)	BRCA2	Pathogenic	13	32912463	32912463	TA	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4030_4034del (p.Asn1344fs)	BRCA2	Pathogenic	13	32912521	32912525	AAAATG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.4070dup (p.Phe1358fs)	BRCA2	Pathogenic	13	32912561	32912562	C	CT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4100_4104del (p.Lys1367fs)	BRCA2	Pathogenic	13	32912589	32912593	CTTAAA	C	criteria provided, single submitter	-