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
Insertion	NM_007294.3(BRCA1):c.3108_3109insSVAelement	BRCA1	Pathogenic	17	41244439	41244440	na	na	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2984del (p.Lys995fs)	BRCA1	Pathogenic	17	41244564	41244564	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.2865del (p.Ser956fs)	BRCA1	Pathogenic	17	41244683	41244683	AT	A	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.2835_2836insCC (p.Ile946fs)	BRCA1	Pathogenic	17	41244712	41244713	T	TGG	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2386del (p.Thr796fs)	BRCA1	Pathogenic	17	41245162	41245162	GT	G	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2160del (p.Glu720fs)	BRCA1	Pathogenic	17	41245388	41245388	AT	A	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.2022_2023dup (p.Ala675fs)	BRCA1	Pathogenic	17	41245524	41245525	G	GCA	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1889del (p.Asn630fs)	BRCA1	Pathogenic	17	41245659	41245659	AT	A	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.1641_1642insG (p.Ile548fs)	BRCA1	Pathogenic/Likely pathogenic	17	41245906	41245907	T	TC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.1293dup (p.Leu432fs)	BRCA1	Pathogenic	17	41246254	41246255	G	GT	criteria provided, single submitter	-