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.1209dup (p.Glu404Ter)	BRCA1	Pathogenic	17	41246338	41246339	C	CA	reviewed by expert panel	ClinGen:CA10589961
Insertion	NM_007294.4(BRCA1):c.1179_1180insT (p.Gly394fs)	BRCA1	Pathogenic	17	41246368	41246369	C	CA	reviewed by expert panel	ClinGen:CA10589962
Deletion	NM_007294.4(BRCA1):c.1174del (p.Leu392fs)	BRCA1	Pathogenic	17	41246374	41246374	AG	A	reviewed by expert panel	ClinGen:CA10589963
single nucleotide variant	NM_007294.4(BRCA1):c.1171G>T (p.Glu391Ter)	BRCA1	Pathogenic	17	41246377	41246377	C	A	reviewed by expert panel	ClinGen:CA10589964
Deletion	NM_007294.4(BRCA1):c.1140del (p.Val382fs)	BRCA1	Pathogenic	17	41246408	41246408	TC	T	reviewed by expert panel	ClinGen:CA10589965
Deletion	NM_007294.4(BRCA1):c.1125_1132del (p.Asn376fs)	BRCA1	Pathogenic	17	41246416	41246423	CTGCTATTT	C	reviewed by expert panel	ClinGen:CA10589966
Deletion	NM_007294.4(BRCA1):c.1104del (p.Asp369fs)	BRCA1	Pathogenic	17	41246444	41246444	CT	C	reviewed by expert panel	ClinGen:CA10589967
Deletion	NM_007294.4(BRCA1):c.1054del (p.Glu352fs)	BRCA1	Pathogenic	17	41246494	41246494	TC	T	reviewed by expert panel	ClinGen:CA10589968
Deletion	NM_007294.4(BRCA1):c.1044_1047del (p.Leu347_Cys348insTer)	BRCA1	Pathogenic	17	41246501	41246504	TCTCA	T	reviewed by expert panel	ClinGen:CA10589970
Insertion	NM_007294.4(BRCA1):c.1044_1045insTCAC (p.Glu349fs)	BRCA1	Pathogenic	17	41246503	41246504	C	CGTGA	reviewed by expert panel	ClinGen:CA10589971