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.5962del (p.Val1988fs)	BRCA2	Pathogenic	13	32914453	32914453	AG	A	reviewed by expert panel	ClinGen:CA10577479
single nucleotide variant	NM_000059.4(BRCA2):c.9381G>A (p.Trp3127Ter)	BRCA2	Pathogenic	13	32968950	32968950	G	A	reviewed by expert panel	ClinGen:CA10577497
Insertion	NM_000059.4(BRCA2):c.9517_9518insTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCT (p.Cys3173delinsPheTer)	BRCA2	Pathogenic	13	32971049	32971050	T	TTTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTC	criteria provided, single submitter	ClinGen:CA10577501
Deletion	NM_000059.4(BRCA2):c.9588del (p.Asp3197fs)	BRCA2	Pathogenic	13	32971119	32971119	TA	T	reviewed by expert panel	ClinGen:CA10577504
single nucleotide variant	NM_000059.4(BRCA2):c.171C>A (p.Tyr57Ter)	BRCA2	Pathogenic	13	32893317	32893317	C	A	reviewed by expert panel	ClinGen:CA10579446
Deletion	NM_000059.4(BRCA2):c.176del (p.Pro59fs)	BRCA2	Pathogenic	13	32893321	32893321	AC	A	reviewed by expert panel	ClinGen:CA10579447
Deletion	NM_000059.4(BRCA2):c.413_417del (p.Ser137_Cys138insTer)	BRCA2	Pathogenic	13	32899305	32899309	TTCTTG	T	reviewed by expert panel	ClinGen:CA10579457
Duplication	NM_000059.4(BRCA2):c.451_452dup (p.Val151_Thr152insTer)	BRCA2	Pathogenic	13	32900261	32900262	A	ATG	reviewed by expert panel	ClinGen:CA10579459
Deletion	NM_000059.4(BRCA2):c.668del (p.His223fs)	BRCA2	Pathogenic	13	32903616	32903616	CA	C	reviewed by expert panel	ClinGen:CA10579466
single nucleotide variant	NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter)	BRCA2	Pathogenic	13	32905095	32905095	A	T	reviewed by expert panel	ClinGen:CA10579470