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.4400_4418delinsTTT (p.Gln1467fs)	BRCA1	Pathogenic	17	41228571	41228589	GAAAGGCCTTCTGGATTCT	AAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580522
single nucleotide variant	NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter)	BRCA1	Pathogenic	17	41242984	41242984	G	A	reviewed by expert panel	ClinGen:CA10580534
single nucleotide variant	NM_007294.4(BRCA1):c.3979C>T (p.Gln1327Ter)	BRCA1	Pathogenic	17	41243569	41243569	G	A	reviewed by expert panel	ClinGen:CA10580539
Duplication	NM_007294.4(BRCA1):c.3931_3934dup (p.Thr1312fs)	BRCA1	Pathogenic	17	41243613	41243614	G	GTGTT	reviewed by expert panel	ClinGen:CA10580543
Deletion	NM_007294.4(BRCA1):c.3294del (p.Pro1099fs)	BRCA1	Pathogenic	17	41244254	41244254	GA	G	reviewed by expert panel	ClinGen:CA10580568
Duplication	NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs)	BRCA1	Pathogenic	17	41244258	41244259	C	CT	reviewed by expert panel	ClinGen:CA10580569
Deletion	NM_007294.4(BRCA1):c.2947del (p.Leu983fs)	BRCA1	Pathogenic	17	41244601	41244601	AG	A	reviewed by expert panel	ClinGen:CA10580589
single nucleotide variant	NM_007294.4(BRCA1):c.2719G>T (p.Glu907Ter)	BRCA1	Pathogenic	17	41244829	41244829	C	A	reviewed by expert panel	ClinGen:CA10580603
Deletion	NM_007294.4(BRCA1):c.2717del (p.Lys906fs)	BRCA1	Pathogenic	17	41244831	41244831	CT	C	reviewed by expert panel	ClinGen:CA10580604
single nucleotide variant	NM_007294.4(BRCA1):c.2680A>T (p.Lys894Ter)	BRCA1	Pathogenic	17	41244868	41244868	T	A	reviewed by expert panel	ClinGen:CA10580605