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
Deletion	NM_007294.4(BRCA1):c.3062del (p.Ser1021fs)	BRCA1	Pathogenic	17	41244486	41244486	AC	A	reviewed by expert panel	ClinGen:CA645373185
Deletion	NM_007294.4(BRCA1):c.3056_3059del (p.Ile1019fs)	BRCA1	Pathogenic	17	41244489	41244492	TGGAA	T	reviewed by expert panel	ClinGen:CA645373186
Deletion	NM_007294.4(BRCA1):c.3016_3020del (p.His1006fs)	BRCA1	Pathogenic	17	41244528	41244532	TGAATG	T	reviewed by expert panel	ClinGen:CA645373187
single nucleotide variant	NM_007294.4(BRCA1):c.2934T>A (p.Tyr978Ter)	BRCA1	Pathogenic	17	41244614	41244614	A	T	reviewed by expert panel	ClinGen:CA10596127
Duplication	NM_007294.4(BRCA1):c.2504dup (p.His835fs)	BRCA1	Pathogenic	17	41245043	41245044	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373190
single nucleotide variant	NM_007294.4(BRCA1):c.2255T>A (p.Leu752Ter)	BRCA1	Pathogenic	17	41245293	41245293	A	T	reviewed by expert panel	ClinGen:CA10597490
Insertion	NM_007294.4(BRCA1):c.2126_2127insA (p.Phe709fs)	BRCA1	Pathogenic	17	41245421	41245422	A	AT	reviewed by expert panel	ClinGen:CA645373191
single nucleotide variant	NM_007294.4(BRCA1):c.2038A>T (p.Lys680Ter)	BRCA1	Pathogenic	17	41245510	41245510	T	A	reviewed by expert panel	ClinGen:CA10597932
Deletion	NM_007294.4(BRCA1):c.1962_1968del (p.Lys654fs)	BRCA1	Pathogenic	17	41245580	41245586	GGTTGTAC	G	reviewed by expert panel	ClinGen:CA645373193
Deletion	NM_007294.4(BRCA1):c.1780del (p.Met594fs)	BRCA1	Pathogenic	17	41245768	41245768	AT	A	reviewed by expert panel	ClinGen:CA645373194