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_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)	BRCA1	Pathogenic	17	41243581	41243581	G	A	reviewed by expert panel	ClinGen:CA002542
Deletion	NM_007294.4(BRCA1):c.3967del (p.Gln1323fs)	BRCA1	Pathogenic	17	41243581	41243581	TG	T	reviewed by expert panel	ClinGen:CA002543
Deletion	NM_007294.4(BRCA1):c.3972del (p.Met1324fs)	BRCA1	Pathogenic	17	41243576	41243576	TC	T	reviewed by expert panel	ClinGen:CA002548,Breast Cancer Information Core (BIC) (BRCA1):4091&base_change=del G
Deletion	NM_007294.4(BRCA1):c.3973del (p.Arg1325fs)	BRCA1	Pathogenic	17	41243575	41243575	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4092&base_change=del A,ClinGen:CA002549
Deletion	NM_007294.4(BRCA1):c.3981del (p.Gln1327fs)	BRCA1	Pathogenic	17	41243567	41243567	AC	A	reviewed by expert panel	ClinGen:CA002553
Duplication	NM_007294.4(BRCA1):c.3982dup (p.Ser1328fs)	BRCA1	Pathogenic	17	41243565	41243566	G	GA	reviewed by expert panel	ClinGen:CA327904
Deletion	NM_007294.4(BRCA1):c.3999del (p.Gly1334fs)	BRCA1	Pathogenic	17	41243549	41243549	CA	C	reviewed by expert panel	ClinGen:CA002560
Deletion	NM_007294.4(BRCA1):c.399_400del (p.Ala134fs)	BRCA1	Pathogenic	17	41256180	41256181	GCA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):517&base_change=del GT,ClinGen:CA002554
single nucleotide variant	NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)	BRCA1	Pathogenic	17	41276111	41276111	C	A	reviewed by expert panel	ClinGen:CA002562
Deletion	NM_007294.4(BRCA1):c.4001del (p.Gly1334fs)	BRCA1	Pathogenic	17	41243547	41243547	AC	A	reviewed by expert panel	ClinGen:CA002564