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.4699_4708del (p.Gly1567fs)	BRCA1	Pathogenic	17	41223223	41223232	AGGCTGATTCC	A	reviewed by expert panel	ClinGen:CA10589648
Duplication	NM_007294.4(BRCA1):c.4688dup (p.Tyr1563Ter)	BRCA1	Pathogenic	17	41223242	41223243	G	GT	reviewed by expert panel	ClinGen:CA10589649
Duplication	NM_007294.4(BRCA1):c.4668dup (p.Asp1557fs)	BRCA1	Pathogenic	17	41226354	41226355	C	CT	reviewed by expert panel	ClinGen:CA10589650
Indel	NM_007294.4(BRCA1):c.4618_4621delinsAAA (p.Glu1540fs)	BRCA1	Pathogenic	17	41226402	41226405	CTTC	TTT	reviewed by expert panel	ClinGen:CA10589652
Duplication	NM_007294.4(BRCA1):c.4593dup (p.Val1532fs)	BRCA1	Pathogenic	17	41226429	41226430	C	CA	reviewed by expert panel	ClinGen:CA10589653
Deletion	NM_007294.4(BRCA1):c.4591del (p.Val1531fs)	BRCA1	Pathogenic	17	41226432	41226432	AC	A	reviewed by expert panel	ClinGen:CA10589654
single nucleotide variant	NM_007294.4(BRCA1):c.4573C>T (p.Gln1525Ter)	BRCA1	Pathogenic	17	41226450	41226450	G	A	reviewed by expert panel	ClinGen:CA10589655
Deletion	NM_007294.4(BRCA1):c.4569_4572del (p.Ser1524fs)	BRCA1	Pathogenic	17	41226451	41226454	GAGAT	G	reviewed by expert panel	ClinGen:CA10589656
Insertion	NM_007294.4(BRCA1):c.4569_4570insCC (p.Ser1524fs)	BRCA1	Pathogenic	17	41226453	41226454	A	AGG	reviewed by expert panel	ClinGen:CA10589657
single nucleotide variant	NM_007294.4(BRCA1):c.4566C>G (p.Tyr1522Ter)	BRCA1	Pathogenic	17	41226457	41226457	G	C	reviewed by expert panel	ClinGen:CA10589658