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
Duplication	NM_000059.4(BRCA2):c.8713dup (p.Tyr2905fs)	BRCA2	Likely pathogenic	13	32950884	32950885	C	CT	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.1442dup (p.Ile482fs)	BRCA1	Likely pathogenic	17	41246105	41246106	T	TA	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.1114_1115delinsC (p.Asn372fs)	BRCA2	Pathogenic	13	32906729	32906730	AA	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.1593del (p.Glu532fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907203	32907203	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1785_1803del (p.His595fs)	BRCA2	Pathogenic	13	32907399	32907417	CATGATGAAACATCTTATAA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.1840dup (p.Ile614fs)	BRCA2	Pathogenic	13	32907453	32907454	T	TA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.1964del (p.Pro655fs)	BRCA2	Pathogenic	13	32910455	32910455	AC	A	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.3204_3207del (p.Ser1069fs)	BRCA2	Pathogenic	13	32911695	32911698	GTATC	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.4(BRCA2):c.3364_3370delinsATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG (p.Gly1122_Gln1124delinsIleLeuLeuIleAsnTer)	BRCA2	Pathogenic	13	32911856	32911862	GGAAGTC	ATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3628_3629del (p.Thr1209_Asp1210insTer)	BRCA2	Pathogenic	13	32912119	32912120	CAG	C	criteria provided, multiple submitters, no conflicts	-