家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_007294.4(BRCA1):c.2552_2553dup (p.Leu852fs)	BRCA1	Pathogenic	17	41244994	41244995	G	GTT	reviewed by expert panel	ClinGen:CA10589835
single nucleotide variant	NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter)	BRCA1	Pathogenic	17	41244997	41244997	C	A	reviewed by expert panel	ClinGen:CA10589836
Deletion	NM_007294.4(BRCA1):c.2542_2545del (p.Glu848fs)	BRCA1	Pathogenic	17	41245003	41245006	TCTTC	T	reviewed by expert panel	ClinGen:CA10589837
Indel	NM_007294.4(BRCA1):c.2538_2540delinsG (p.Met847fs)	BRCA1	Pathogenic	17	41245008	41245010	ATT	C	reviewed by expert panel	ClinGen:CA10589838
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