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
Indel	NM_007294.4(BRCA1):c.4391_4403delinsTT (p.Pro1464fs)	BRCA1	Pathogenic	17	41228586	41228598	TTCTGGCTTATAG	AA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4510&base_change=del 13 ins TT,ClinGen:CA002817
Duplication	NM_007294.4(BRCA1):c.4391dup (p.Ile1465fs)	BRCA1	Pathogenic	17	41228597	41228598	A	AG	reviewed by expert panel	ClinGen:CA327931
single nucleotide variant	NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter)	BRCA1	Pathogenic	17	41228590	41228590	G	A	reviewed by expert panel	ClinGen:CA002821
single nucleotide variant	NM_007294.4(BRCA1):c.441+1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41256138	41256138	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA002833
single nucleotide variant	NM_007294.4(BRCA1):c.441+2T>A	BRCA1	Pathogenic/Likely pathogenic	17	41256137	41256137	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA002836
Indel	NM_007294.4(BRCA1):c.4416_4417delinsG (p.Ser1473fs)	BRCA1	Pathogenic	17	41228572	41228573	AA	C	reviewed by expert panel	ClinGen:CA002841
Deletion	NM_007294.4(BRCA1):c.4435del (p.Val1479fs)	BRCA1	Pathogenic	17	41228554	41228554	AC	A	reviewed by expert panel	ClinGen:CA002852
Deletion	NM_007294.4(BRCA1):c.4447del (p.Ser1483fs)	BRCA1	Pathogenic	17	41228542	41228542	CT	C	reviewed by expert panel	ClinGen:CA002854
Deletion	NM_007294.4(BRCA1):c.4452_4455del (p.Thr1485fs)	BRCA1	Pathogenic	17	41228534	41228537	TGGTA	T	reviewed by expert panel	ClinGen:CA002856
Deletion	NM_007294.4(BRCA1):c.4456del (p.Ser1486fs)	BRCA1	Pathogenic	17	41228533	41228533	CT	C	reviewed by expert panel	ClinGen:CA002859