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
single nucleotide variant	NM_007294.4(BRCA1):c.1277C>G (p.Ser426Ter)	BRCA1	Pathogenic	17	41246271	41246271	G	C	reviewed by expert panel	ClinGen:CA10589951
single nucleotide variant	NM_007294.4(BRCA1):c.1277C>A (p.Ser426Ter)	BRCA1	Pathogenic	17	41246271	41246271	G	T	reviewed by expert panel	ClinGen:CA10589952
Duplication	NM_007294.4(BRCA1):c.1273dup (p.Ser425fs)	BRCA1	Pathogenic	17	41246274	41246275	G	GA	reviewed by expert panel	ClinGen:CA10589953
single nucleotide variant	NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter)	BRCA1	Pathogenic	17	41246287	41246287	C	A	reviewed by expert panel	ClinGen:CA10589954
Deletion	NM_007294.4(BRCA1):c.1253del (p.Glu418fs)	BRCA1	Pathogenic	17	41246295	41246295	CT	C	reviewed by expert panel	ClinGen:CA10589955
Duplication	NM_007294.4(BRCA1):c.1252dup (p.Glu418fs)	BRCA1	Pathogenic	17	41246295	41246296	T	TC	reviewed by expert panel	ClinGen:CA10589956
Duplication	NM_007294.4(BRCA1):c.1227_1230dup (p.Asp411delinsSerTer)	BRCA1	Pathogenic	17	41246317	41246318	C	CAGCT	reviewed by expert panel	ClinGen:CA10589957
single nucleotide variant	NM_007294.4(BRCA1):c.1222A>T (p.Lys408Ter)	BRCA1	Pathogenic	17	41246326	41246326	T	A	reviewed by expert panel	ClinGen:CA10589958
Insertion	NM_007294.4(BRCA1):c.1210_1211insCT (p.Glu404fs)	BRCA1	Pathogenic	17	41246337	41246338	T	TAG	reviewed by expert panel	ClinGen:CA10589959
Deletion	NM_007294.4(BRCA1):c.1209_1210del (p.Glu404fs)	BRCA1	Pathogenic	17	41246338	41246339	TCA	T	reviewed by expert panel	ClinGen:CA10589960