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.1575del (p.Gln526fs)	BRCA1	Pathogenic	17	41245973	41245973	GA	G	reviewed by expert panel	ClinGen:CA10589931
single nucleotide variant	NM_007294.4(BRCA1):c.1529C>A (p.Ser510Ter)	BRCA1	Pathogenic	17	41246019	41246019	G	T	reviewed by expert panel	ClinGen:CA10589932
Deletion	NM_007294.4(BRCA1):c.1497_1509del (p.Asn500fs)	BRCA1	Pathogenic	17	41246039	41246051	GCTTTAATTTATTT	G	reviewed by expert panel	ClinGen:CA10589933
Deletion	NM_007294.4(BRCA1):c.1504_1507del (p.Leu502fs)	BRCA1	Pathogenic	17	41246041	41246044	TTTAA	T	reviewed by expert panel	ClinGen:CA10589934
single nucleotide variant	NM_007294.4(BRCA1):c.1505T>G (p.Leu502Ter)	BRCA1	Pathogenic	17	41246043	41246043	A	C	reviewed by expert panel	ClinGen:CA10589935
Deletion	NM_007294.4(BRCA1):c.1505del (p.Lys501_Leu502insTer)	BRCA1	Pathogenic	17	41246043	41246043	TA	T	reviewed by expert panel	ClinGen:CA10589936
Deletion	NM_007294.4(BRCA1):c.1428_1437del (p.His476fs)	BRCA1	Pathogenic	17	41246111	41246120	TTTCAGTTACA	T	reviewed by expert panel	ClinGen:CA10589937
Deletion	NM_007294.4(BRCA1):c.1419_1422del (p.Asn473fs)	BRCA1	Pathogenic	17	41246126	41246129	TTAAG	T	reviewed by expert panel	ClinGen:CA10589938
Duplication	NM_007294.4(BRCA1):c.1412dup (p.Asn473fs)	BRCA1	Pathogenic	17	41246135	41246136	G	GA	reviewed by expert panel	ClinGen:CA10589939
Duplication	NM_007294.4(BRCA1):c.1390dup (p.Thr464fs)	BRCA1	Pathogenic	17	41246157	41246158	G	GT	reviewed by expert panel	ClinGen:CA10589940