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_007294.4(BRCA1):c.4127del (p.Thr1376fs)	BRCA1	Pathogenic	17	41243019	41243019	TG	T	reviewed by expert panel	ClinGen:CA10589689
Deletion	NM_007294.4(BRCA1):c.4116del (p.Cys1372fs)	BRCA1	Pathogenic	17	41243030	41243030	CA	C	reviewed by expert panel	ClinGen:CA10589690
Insertion	NM_007294.4(BRCA1):c.4107_4108insATCT (p.Ser1370fs)	BRCA1	Pathogenic	17	41243038	41243039	A	AAGAT	reviewed by expert panel	ClinGen:CA10589691
Deletion	NM_007294.4(BRCA1):c.4074_4090del (p.Gln1359fs)	BRCA1	Pathogenic	17	41243458	41243474	TTTGAATCCATGCTTTGC	T	reviewed by expert panel	ClinGen:CA10589692
Deletion	NM_007294.4(BRCA1):c.4079del (p.Ser1360fs)	BRCA1	Pathogenic	17	41243469	41243469	GC	G	reviewed by expert panel	ClinGen:CA10589693
Deletion	NM_007294.4(BRCA1):c.4071del (p.Glu1358fs)	BRCA1	Pathogenic	17	41243477	41243477	CT	C	reviewed by expert panel	ClinGen:CA10589694
single nucleotide variant	NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter)	BRCA1	Pathogenic	17	41243479	41243479	C	A	reviewed by expert panel	ClinGen:CA10589695
single nucleotide variant	NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter)	BRCA1	Pathogenic	17	41243482	41243482	G	A	reviewed by expert panel	ClinGen:CA10589696
Deletion	NM_007294.4(BRCA1):c.4062_4066del (p.Asn1354fs)	BRCA1	Pathogenic	17	41243482	41243486	TGATTA	T	reviewed by expert panel	ClinGen:CA10589697
Deletion	NM_007294.4(BRCA1):c.4066del (p.Gln1356fs)	BRCA1	Pathogenic	17	41243482	41243482	TG	T	reviewed by expert panel	ClinGen:CA10589698