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.3541del (p.Val1181fs)	BRCA1	Pathogenic	17	41244007	41244007	AC	A	reviewed by expert panel	ClinGen:CA10586627
Duplication	NM_007294.4(BRCA1):c.3531dup (p.Ser1178Ter)	BRCA1	Pathogenic	17	41244016	41244017	T	TA	reviewed by expert panel	ClinGen:CA8589948
Deletion	NM_007294.4(BRCA1):c.3496del (p.Ala1166fs)	BRCA1	Pathogenic	17	41244052	41244052	GC	G	reviewed by expert panel	ClinGen:CA10586628
Deletion	NM_007294.4(BRCA1):c.3458_3462del (p.Leu1153fs)	BRCA1	Pathogenic	17	41244086	41244090	CTAACA	C	reviewed by expert panel	ClinGen:CA10586629
Deletion	NM_007294.4(BRCA1):c.3459_3460del (p.Leu1154fs)	BRCA1	Pathogenic	17	41244088	41244089	AAC	A	reviewed by expert panel	ClinGen:CA10586630
single nucleotide variant	NM_007294.4(BRCA1):c.3442G>T (p.Glu1148Ter)	BRCA1	Pathogenic	17	41244106	41244106	C	A	reviewed by expert panel	ClinGen:CA10586631
Deletion	NM_007294.4(BRCA1):c.3330del (p.Lys1110fs)	BRCA1	Pathogenic	17	41244218	41244218	GC	G	reviewed by expert panel	ClinGen:CA10586632
Deletion	NM_007294.4(BRCA1):c.3279_3280del (p.Val1093_Tyr1094insTer)	BRCA1	Pathogenic	17	41244268	41244269	TAG	T	reviewed by expert panel	ClinGen:CA10586633
single nucleotide variant	NM_007294.4(BRCA1):c.3226A>T (p.Arg1076Ter)	BRCA1	Pathogenic	17	41244322	41244322	T	A	reviewed by expert panel	ClinGen:CA10586634
Deletion	NM_007294.4(BRCA1):c.3015del (p.Glu1005fs)	BRCA1	Pathogenic	17	41244533	41244533	GT	G	reviewed by expert panel	ClinGen:CA10586635