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.4185_4185+3del	BRCA1	Pathogenic	17	41242958	41242961	TTACC	T	criteria provided, single submitter	ClinGen:CA327916
single nucleotide variant	NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter)	BRCA1	Pathogenic	17	41234592	41234592	G	A	reviewed by expert panel	ClinGen:CA002700
Deletion	NM_007294.4(BRCA1):c.4195_4196del (p.Thr1399fs)	BRCA1	Pathogenic	17	41234582	41234583	GGT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4314&base_change=del AC,ClinGen:CA002702
single nucleotide variant	NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)	BRCA1	Pathogenic	17	41234577	41234577	G	A	reviewed by expert panel	ClinGen:CA002705
Deletion	NM_007294.4(BRCA1):c.4210del (p.Asn1403_Leu1404insTer)	BRCA1	Pathogenic	17	41234568	41234568	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4329&base_change=del C,ClinGen:CA002712
single nucleotide variant	NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)	BRCA1	Pathogenic	17	41234556	41234556	G	A	reviewed by expert panel	ClinGen:CA002719
single nucleotide variant	NM_007294.4(BRCA1):c.4228G>T (p.Glu1410Ter)	BRCA1	Pathogenic	17	41234550	41234550	C	A	reviewed by expert panel	ClinGen:CA002721
single nucleotide variant	NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr)	BRCA1	Likely pathogenic	17	41234546	41234546	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA002723,UniProtKB:P38398#VAR_020699
single nucleotide variant	NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter)	BRCA1	Pathogenic	17	41234541	41234541	C	A	reviewed by expert panel	ClinGen:CA002724
Duplication	NM_007294.4(BRCA1):c.4240dup (p.Leu1414fs)	BRCA1	Pathogenic	17	41234537	41234538	A	AG	reviewed by expert panel	ClinGen:CA327921