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.4042G>T (p.Gly1348Ter)	BRCA1	Pathogenic	17	41243506	41243506	C	A	reviewed by expert panel	ClinGen:CA10589699
Duplication	NM_007294.4(BRCA1):c.4039dup (p.Arg1347fs)	BRCA1	Pathogenic	17	41243508	41243509	C	CT	reviewed by expert panel	ClinGen:CA10589700
Deletion	NM_007294.4(BRCA1):c.4036del (p.Glu1346fs)	BRCA1	Pathogenic	17	41243512	41243512	TC	T	reviewed by expert panel	ClinGen:CA10589701
single nucleotide variant	NM_007294.4(BRCA1):c.4033G>T (p.Glu1345Ter)	BRCA1	Pathogenic	17	41243515	41243515	C	A	reviewed by expert panel	ClinGen:CA10589702
Insertion	NM_007294.4(BRCA1):c.4016_4017insTT (p.Glu1339fs)	BRCA1	Pathogenic	17	41243531	41243532	T	TAA	reviewed by expert panel	ClinGen:CA10589703
Deletion	NM_007294.4(BRCA1):c.3995_4001del (p.Gly1332fs)	BRCA1	Pathogenic	17	41243547	41243553	ACCAACTC	A	reviewed by expert panel	ClinGen:CA10589704
Deletion	NM_007294.4(BRCA1):c.3990_3993del (p.Ser1330fs)	BRCA1	Pathogenic	17	41243555	41243558	CCTGG	C	reviewed by expert panel	ClinGen:CA10589705
Indel	NM_007294.4(BRCA1):c.3985_3987delinsTTTC (p.Glu1329fs)	BRCA1	Pathogenic	17	41243561	41243563	TTC	GAAA	reviewed by expert panel	ClinGen:CA10589706
Indel	NM_007294.4(BRCA1):c.3972_3974delinsAA (p.Met1324fs)	BRCA1	Pathogenic	17	41243574	41243576	CTC	TT	reviewed by expert panel	ClinGen:CA10589707
Deletion	NM_007294.4(BRCA1):c.3968_3971del (p.Gln1323fs)	BRCA1	Pathogenic	17	41243577	41243580	CATTT	C	reviewed by expert panel	ClinGen:CA10589708