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.4342dup (p.Ser1448fs)	BRCA1	Pathogenic	17	41234435	41234436	C	CT	reviewed by expert panel	ClinGen:CA10589669
Deletion	NM_007294.4(BRCA1):c.4309del (p.Ser1437fs)	BRCA1	Pathogenic	17	41234469	41234469	GA	G	reviewed by expert panel	ClinGen:CA10589670
Deletion	NM_007294.4(BRCA1):c.4290_4296del (p.Pro1430_Ser1431insTer)	BRCA1	Pathogenic	17	41234482	41234488	TGATGGAA	T	reviewed by expert panel	ClinGen:CA10589671
Indel	NM_007294.4(BRCA1):c.4284_4285delinsG (p.Ser1428fs)	BRCA1	Pathogenic	17	41234493	41234494	AG	C	reviewed by expert panel	ClinGen:CA10589672
Duplication	NM_007294.4(BRCA1):c.4285dup (p.Tyr1429fs)	BRCA1	Pathogenic	17	41234492	41234493	T	TA	reviewed by expert panel	ClinGen:CA10589673
single nucleotide variant	NM_007294.4(BRCA1):c.4270C>T (p.Gln1424Ter)	BRCA1	Pathogenic	17	41234508	41234508	G	A	reviewed by expert panel	ClinGen:CA10589674
single nucleotide variant	NM_007294.4(BRCA1):c.4255G>T (p.Glu1419Ter)	BRCA1	Pathogenic	17	41234523	41234523	C	A	reviewed by expert panel	ClinGen:CA10589675
Deletion	NM_007294.4(BRCA1):c.4239del (p.Glu1413fs)	BRCA1	Pathogenic	17	41234539	41234539	GT	G	reviewed by expert panel	ClinGen:CA10589676
single nucleotide variant	NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)	BRCA1	Pathogenic	17	41234553	41234553	G	A	reviewed by expert panel	ClinGen:CA10589677
Deletion	NM_007294.4(BRCA1):c.4218del (p.Lys1406fs)	BRCA1	Pathogenic	17	41234560	41234560	GC	G	reviewed by expert panel	ClinGen:CA10589678