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
Insertion	NM_007294.4(BRCA1):c.4193_4194insGG (p.Asp1398fs)	BRCA1	Pathogenic	17	41234584	41234585	A	ACC	reviewed by expert panel	ClinGen:CA10586610
Deletion	NM_007294.4(BRCA1):c.4139_4140del (p.Glu1380fs)	BRCA1	Pathogenic	17	41243006	41243007	CTT	C	reviewed by expert panel	ClinGen:CA10586611
single nucleotide variant	NM_007294.4(BRCA1):c.4088C>G (p.Ser1363Ter)	BRCA1	Pathogenic	17	41243460	41243460	G	C	reviewed by expert panel	ClinGen:CA10586612
Deletion	NM_007294.4(BRCA1):c.4038_4039del (p.Gly1348fs)	BRCA1	Pathogenic	17	41243509	41243510	CTT	C	reviewed by expert panel	ClinGen:CA002576
Duplication	NM_007294.4(BRCA1):c.4015dup (p.Glu1339fs)	BRCA1	Pathogenic	17	41243532	41243533	T	TC	reviewed by expert panel	ClinGen:CA10586613
Deletion	NM_007294.4(BRCA1):c.4013del (p.Lys1338fs)	BRCA1	Pathogenic	17	41243535	41243535	CT	C	reviewed by expert panel	ClinGen:CA10586614
Deletion	NM_007294.4(BRCA1):c.3999_4008del (p.Gly1334fs)	BRCA1	Pathogenic	17	41243540	41243549	CACTCAGACCA	C	reviewed by expert panel	ClinGen:CA059069
single nucleotide variant	NM_007294.4(BRCA1):c.3910G>T (p.Glu1304Ter)	BRCA1	Pathogenic	17	41243638	41243638	C	A	reviewed by expert panel	ClinGen:CA10586615
Deletion	NM_007294.4(BRCA1):c.3889del (p.Ser1297fs)	BRCA1	Pathogenic	17	41243659	41243659	GA	G	reviewed by expert panel	ClinGen:CA10586616
Deletion	NM_007294.4(BRCA1):c.3853del (p.Ser1286fs)	BRCA1	Pathogenic	17	41243695	41243695	AG	A	reviewed by expert panel	ClinGen:CA002483