家族性膵がん - MGenReviews

家族性膵がん

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
Duplication	NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter)	BRCA1	Pathogenic	17	41244439	41244440	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3223&base_change=ins T,ClinGen:CA002031
single nucleotide variant	NM_007294.4(BRCA1):c.3122C>G (p.Ser1041Ter)	BRCA1	Pathogenic	17	41244426	41244426	G	C	reviewed by expert panel	ClinGen:CA002040
Deletion	NM_007294.4(BRCA1):c.3125_3134del (p.Ser1042fs)	BRCA1	Pathogenic	17	41244414	41244423	ATTAATATTGC	A	reviewed by expert panel	ClinGen:CA002042
Deletion	NM_007294.4(BRCA1):c.3145del (p.Ser1049fs)	BRCA1	Pathogenic	17	41244403	41244403	GA	G	reviewed by expert panel	ClinGen:CA002051
Deletion	NM_007294.4(BRCA1):c.3155del (p.Asn1052fs)	BRCA1	Pathogenic	17	41244393	41244393	AT	A	reviewed by expert panel	ClinGen:CA002056
Deletion	NM_007294.4(BRCA1):c.3157del (p.Glu1053fs)	BRCA1	Pathogenic	17	41244391	41244391	TC	T	reviewed by expert panel	ClinGen:CA002057
Duplication	NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs)	BRCA1	Pathogenic	17	41244390	41244391	T	TC	reviewed by expert panel	ClinGen:CA327858
Deletion	NM_007294.4(BRCA1):c.3164del (p.Gly1055fs)	BRCA1	Pathogenic	17	41244384	41244384	GC	G	reviewed by expert panel	ClinGen:CA002061
Deletion	NM_007294.4(BRCA1):c.3168del (p.Ser1057fs)	BRCA1	Pathogenic	17	41244380	41244380	TG	T	reviewed by expert panel	ClinGen:CA002063
Deletion	NM_007294.4(BRCA1):c.3169_3172del (p.Ser1057fs)	BRCA1	Pathogenic	17	41244376	41244379	ATACT	A	reviewed by expert panel	ClinGen:CA002064