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_007294.4(BRCA1):c.1674dup (p.Gly559fs)	BRCA1	Pathogenic	17	41245873	41245874	C	CT	reviewed by expert panel	ClinGen:CA16616887
Deletion	NM_007294.4(BRCA1):c.1434_1435del (p.Glu479fs)	BRCA1	Pathogenic	17	41246113	41246114	TCA	T	reviewed by expert panel	ClinGen:CA16616888
Deletion	NM_007294.4(BRCA1):c.1287del (p.Ile429fs)	BRCA1	Pathogenic	17	41246261	41246261	CT	C	reviewed by expert panel	ClinGen:CA16616889
Deletion	NM_007294.4(BRCA1):c.510del (p.Ile171fs)	BRCA1	Pathogenic	17	41251829	41251829	TC	T	reviewed by expert panel	ClinGen:CA16616890
Insertion	NM_007294.3(BRCA1):c.457_458ins21 (p.?)	BRCA1	Pathogenic	17	41251881	41251882	na	na	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.445G>T (p.Glu149Ter)	BRCA1	Pathogenic	17	41251894	41251894	C	A	reviewed by expert panel	ClinGen:CA10601244
Deletion	NM_000059.4(BRCA2):c.-39-1_-39del	BRCA2	Likely pathogenic	13	32890557	32890558	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6940297
Deletion	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2	Pathogenic	13	32890611	32890611	TC	T	reviewed by expert panel	ClinGen:CA16619631
Duplication	NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)	BRCA2	Pathogenic	13	32893268	32893269	C	CCTATAATT	reviewed by expert panel	ClinGen:CA16619636
Deletion	NM_000059.4(BRCA2):c.162del (p.Asn54fs)	BRCA2	Pathogenic	13	32893308	32893308	AC	A	reviewed by expert panel	ClinGen:CA16619637