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
Duplication	NM_007294.4(BRCA1):c.4699_4700dup (p.Ile1568fs)	BRCA1	Pathogenic	17	41223230	41223231	T	TCC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4672del (p.Asp1557_Leu1558insTer)	BRCA1	Pathogenic	17	41226351	41226351	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4194_4267del (p.Asp1398fs)	BRCA1	Pathogenic	17	41234511	41234584	CTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTA	C	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.4214dup (p.Leu1407fs)	BRCA1	Pathogenic	17	41234563	41234564	T	TA	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4161_4164del (p.Gln1388fs)	BRCA1	Pathogenic	17	41242982	41242985	TCTGA	T	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.4045_4046insTA (p.Thr1349fs)	BRCA1	Pathogenic	17	41243502	41243503	G	GTA	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.3949_3976dup (p.His1326fs)	BRCA1	Pathogenic	17	41243571	41243572	T	TGCCTCATTTGTTTGGAAGAACCAATCAA	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.3876_3877del (p.Ser1292_Ala1293insTer)	BRCA1	Pathogenic	17	41243671	41243672	GCA	G	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.3433del (p.Val1145fs)	BRCA1	Pathogenic	17	41244115	41244115	AC	A	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.3224dup (p.Asn1075fs)	BRCA1	Pathogenic	17	41244323	41244324	G	GT	criteria provided, single submitter	-