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.4676-1G>C	BRCA1	Likely pathogenic	17	41223256	41223256	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10592156
single nucleotide variant	NM_007294.4(BRCA1):c.4088C>A (p.Ser1363Ter)	BRCA1	Pathogenic	17	41243460	41243460	G	T	reviewed by expert panel	ClinGen:CA10593781
Deletion	NM_007294.4(BRCA1):c.3637del (p.Glu1213fs)	BRCA1	Pathogenic	17	41243911	41243911	TC	T	reviewed by expert panel	ClinGen:CA658653693
single nucleotide variant	NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter)	BRCA1	Pathogenic	17	41244352	41244352	C	A	reviewed by expert panel	ClinGen:CA10595591
Deletion	NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs)	BRCA1	Pathogenic	17	41244584	41244588	ATGACT	A	reviewed by expert panel	ClinGen:CA658653687
Deletion	NM_007294.4(BRCA1):c.2796del (p.Gly933fs)	BRCA1	Pathogenic	17	41244752	41244752	CA	C	reviewed by expert panel	ClinGen:CA658653688
Deletion	NM_007294.4(BRCA1):c.2548del (p.Ser850fs)	BRCA1	Pathogenic	17	41245000	41245000	CT	C	reviewed by expert panel	ClinGen:CA658653690
Deletion	NM_007294.4(BRCA1):c.2302del (p.Ser768fs)	BRCA1	Pathogenic	17	41245246	41245246	CT	C	reviewed by expert panel	ClinGen:CA658653691
Deletion	NM_007294.4(BRCA1):c.1618del (p.Glu540fs)	BRCA1	Pathogenic	17	41245930	41245930	TC	T	reviewed by expert panel	ClinGen:CA658653701
Indel	NM_007294.4(BRCA1):c.825_828delinsAAT (p.Thr276fs)	BRCA1	Pathogenic	17	41246720	41246723	TGTG	ATT	reviewed by expert panel	ClinGen:CA658653685