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
Indel	NM_007294.4(BRCA1):c.1638_1646delinsA (p.Met546fs)	BRCA1	Pathogenic	17	41245902	41245910	GTAATATTC	T	reviewed by expert panel	ClinGen:CA645373195
Insertion	NM_007294.4(BRCA1):c.1391_1392insG (p.Tyr465fs)	BRCA1	Pathogenic	17	41246156	41246157	G	GC	reviewed by expert panel	ClinGen:CA645373205
Deletion	NM_007294.4(BRCA1):c.1132_1135del (p.Ser378fs)	BRCA1	Pathogenic	17	41246413	41246416	ATGCT	A	reviewed by expert panel	ClinGen:CA645373200
Deletion	NM_007294.4(BRCA1):c.933del (p.Gly312fs)	BRCA1	Pathogenic	17	41246615	41246615	CA	C	reviewed by expert panel	ClinGen:CA645373203
single nucleotide variant	NM_007294.4(BRCA1):c.886A>T (p.Arg296Ter)	BRCA1	Pathogenic	17	41246662	41246662	T	A	reviewed by expert panel	ClinGen:CA10600303
Deletion	NM_007294.4(BRCA1):c.880_884del (p.Lys294fs)	BRCA1	Pathogenic	17	41246664	41246668	GTCTTT	G	reviewed by expert panel	ClinGen:CA645373197
single nucleotide variant	NM_007294.4(BRCA1):c.800C>A (p.Ser267Ter)	BRCA1	Pathogenic	17	41246748	41246748	G	T	reviewed by expert panel	ClinGen:CA10600482
Deletion	NM_007294.4(BRCA1):c.700_704del (p.Thr234fs)	BRCA1	Pathogenic	17	41246844	41246848	ATTTGT	A	reviewed by expert panel	ClinGen:CA645373198
Deletion	NM_007294.4(BRCA1):c.386del (p.Gly129fs)	BRCA1	Pathogenic	17	41256194	41256194	GC	G	reviewed by expert panel	ClinGen:CA645373201
Deletion	NM_007294.4(BRCA1):c.208_212+22del	BRCA1	Likely pathogenic	17	41258451	41258477	AGCATCATTACCAAATTATATACCTTTT	A	criteria provided, single submitter	ClinGen:CA645373211