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.5221_5224del (p.Val1741fs)	BRCA1	Pathogenic	17	41209122	41209125	TTGAC	T	reviewed by expert panel	ClinGen:CA10589608
Deletion	NM_007294.4(BRCA1):c.5213del (p.Gly1738fs)	BRCA1	Pathogenic	17	41209133	41209133	TC	T	reviewed by expert panel	ClinGen:CA10589609
single nucleotide variant	NM_007294.4(BRCA1):c.5212G>T (p.Gly1738Ter)	BRCA1	Pathogenic	17	41209134	41209134	C	A	reviewed by expert panel	ClinGen:CA10589610
Duplication	NM_007294.4(BRCA1):c.5209dup (p.Arg1737fs)	BRCA1	Pathogenic	17	41209136	41209137	C	CT	reviewed by expert panel	ClinGen:CA10589611
Deletion	NM_007294.4(BRCA1):c.5161_5165del (p.Gln1721fs)	BRCA1	Pathogenic	17	41215378	41215382	AGACTG	A	reviewed by expert panel	ClinGen:CA10589612
Insertion	NM_007294.4(BRCA1):c.5163_5164insC (p.Ser1722fs)	BRCA1	Pathogenic	17	41215379	41215380	A	AG	reviewed by expert panel	ClinGen:CA10589613
single nucleotide variant	NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)	BRCA1	Pathogenic	17	41215382	41215382	G	A	reviewed by expert panel	ClinGen:CA10589614
Duplication	NM_007294.3(BRCA1):c.5155dup	BRCA1	Pathogenic	17	41215387	41215388	A	AC	reviewed by expert panel	ClinGen:CA10589615
single nucleotide variant	NM_007294.4(BRCA1):c.5148T>A (p.Tyr1716Ter)	BRCA1	Pathogenic	17	41215895	41215895	A	T	reviewed by expert panel	ClinGen:CA10589616
single nucleotide variant	NM_007294.4(BRCA1):c.5131A>T (p.Lys1711Ter)	BRCA1	Pathogenic	17	41215912	41215912	T	A	reviewed by expert panel	ClinGen:CA10589617