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
single nucleotide variant	NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)	BRCA2	Pathogenic	13	32953974	32953974	C	G	reviewed by expert panel	ClinGen:CA025940
Duplication	NM_000059.4(BRCA2):c.6349dup (p.Cys2117fs)	BRCA2	Pathogenic	13	32914840	32914841	C	CT	reviewed by expert panel	ClinGen:CA023940
single nucleotide variant	NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)	BRCA2	Pathogenic	13	32911410	32911410	C	A	reviewed by expert panel	ClinGen:CA016767
single nucleotide variant	NM_000059.4(BRCA2):c.6308C>G (p.Ser2103Ter)	BRCA2	Pathogenic	13	32914800	32914800	C	G	reviewed by expert panel	ClinGen:CA023846
Deletion	NM_007294.4(BRCA1):c.4401del (p.Asn1468fs)	BRCA1	Pathogenic	17	41228588	41228588	TC	T	reviewed by expert panel	ClinGen:CA002824
single nucleotide variant	NM_000059.4(BRCA2):c.1909+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32907525	32907525	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013828
single nucleotide variant	NM_007294.4(BRCA1):c.192T>A (p.Cys64Ter)	BRCA1	Pathogenic	17	41258493	41258493	A	T	reviewed by expert panel	ClinGen:CA001275
Deletion	NM_000059.4(BRCA2):c.9257-5_9278del	BRCA2	Pathogenic	13	32968820	32968846	ATTCTAGGACTTGCCCCTTTCGTCTATT	A	criteria provided, single submitter	ClinGen:CA165073
Duplication	NM_000059.4(BRCA2):c.7855dup (p.Trp2619fs)	BRCA2	Pathogenic	13	32936706	32936707	A	AT	reviewed by expert panel	ClinGen:CA165137
Deletion	NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer)	BRCA2	Pathogenic	13	32944591	32944602	TTTCCTGACCCTA	T	reviewed by expert panel	ClinGen:CA025618