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_002878.4(RAD51D):c.94_95del (p.Val32fs)	RAD51D	Pathogenic/Likely pathogenic	17	33446179	33446180	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA195552
single nucleotide variant	NM_002878.4(RAD51D):c.82+1G>A	RAD51D	Likely pathogenic	17	33446550	33446550	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194190
Indel	NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)	BRCA1	Pathogenic	17	41201181	41201185	CCACA	TCACT	reviewed by expert panel	ClinGen:CA003524
Deletion	NM_007294.4(BRCA1):c.5269_5273del (p.Asp1757fs)	BRCA1	Pathogenic	17	41209073	41209077	TCTGTC	T	reviewed by expert panel	ClinGen:CA003412
single nucleotide variant	NM_007294.4(BRCA1):c.5153-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41215392	41215392	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003300
single nucleotide variant	NM_007294.4(BRCA1):c.5027T>G (p.Leu1676Ter)	BRCA1	Pathogenic	17	41219672	41219672	A	C	reviewed by expert panel	ClinGen:CA003160
single nucleotide variant	NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter)	BRCA1	Pathogenic	17	41223097	41223097	G	A	reviewed by expert panel	ClinGen:CA003041
single nucleotide variant	NM_007294.4(BRCA1):c.4675+1G>T	BRCA1	Pathogenic	17	41226347	41226347	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA002958
single nucleotide variant	NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)	BRCA1	Pathogenic	17	41226500	41226500	C	T	reviewed by expert panel	ClinGen:CA002892
Deletion	NM_007294.4(BRCA1):c.4379del (p.Ser1460fs)	BRCA1	Pathogenic	17	41228610	41228610	AC	A	reviewed by expert panel	ClinGen:CA002807