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.2536G>T (p.Glu846Ter)	BRCA1	Pathogenic	17	41245012	41245012	C	A	reviewed by expert panel	ClinGen:CA10589839
Deletion	NM_007294.4(BRCA1):c.2532_2536del (p.Ser844fs)	BRCA1	Pathogenic	17	41245012	41245016	TCTATG	T	reviewed by expert panel	ClinGen:CA10589840
Deletion	NM_007294.4(BRCA1):c.2529_2530del (p.Ser844fs)	BRCA1	Pathogenic	17	41245018	41245019	CTT	C	reviewed by expert panel	ClinGen:CA10589841
single nucleotide variant	NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter)	BRCA1	Pathogenic	17	41245024	41245024	C	A	reviewed by expert panel	ClinGen:CA10589842
Duplication	NM_007294.4(BRCA1):c.2524dup (p.Glu842fs)	BRCA1	Pathogenic	17	41245023	41245024	T	TC	reviewed by expert panel	ClinGen:CA10589843
Deletion	NM_007294.4(BRCA1):c.2501del (p.Gly834fs)	BRCA1	Pathogenic	17	41245047	41245047	TC	T	reviewed by expert panel	ClinGen:CA10589844
Duplication	NM_007294.4(BRCA1):c.2490_2497dup (p.Leu833fs)	BRCA1	Pathogenic	17	41245050	41245051	A	AATGGATAC	reviewed by expert panel	ClinGen:CA10589845
Deletion	NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs)	BRCA1	Pathogenic	17	41245056	41245059	ATACT	A	reviewed by expert panel	ClinGen:CA10589846
Indel	NM_007294.4(BRCA1):c.2477_2492delinsTG (p.Thr826fs)	BRCA1	Pathogenic	17	41245056	41245071	TACTTAAAGCCTTCTG	CA	reviewed by expert panel	ClinGen:CA10589847
Insertion	NM_007294.4(BRCA1):c.2487_2488insCCCCT (p.Lys830fs)	BRCA1	Pathogenic	17	41245060	41245061	T	TAGGGG	reviewed by expert panel	ClinGen:CA10589848