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
single nucleotide variant	NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter)	BRCA1	Pathogenic	17	41244528	41244528	G	C	reviewed by expert panel	ClinGen:CA001973
single nucleotide variant	NM_007294.4(BRCA1):c.3026C>A (p.Ser1009Ter)	BRCA1	Pathogenic	17	41244522	41244522	G	T	reviewed by expert panel	ClinGen:CA001989
Deletion	NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)	BRCA1	Pathogenic	17	41244518	41244519	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3148&base_change=del CT,ClinGen:CA001991
single nucleotide variant	NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter)	BRCA1	Pathogenic	17	41256277	41256277	A	C	reviewed by expert panel	ClinGen:CA001996
Duplication	NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)	BRCA1	Pathogenic	17	41244495	41244496	T	TTCTCA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3166&base_change=ins TGAGA,Breast Cancer Information Core (BIC) (BRCA1):3171&base_change=ins TGAGA,ClinGen:CA002003,OMIM:113705.0033
single nucleotide variant	NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)	BRCA1	Pathogenic	17	41244499	41244499	C	A	reviewed by expert panel	ClinGen:CA002004
Deletion	NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)	BRCA1	Pathogenic	17	41244454	41244464	CTAATGTTATTA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3203&base_change=del TAATAACATTA,ClinGen:CA002023
single nucleotide variant	NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)	BRCA1	Pathogenic	17	41244451	41244451	C	A	reviewed by expert panel	ClinGen:CA002029
Deletion	NM_007294.4(BRCA1):c.3107_3112del (p.Phe1036_Glu1038delinsTer)	BRCA1	Pathogenic	17	41244436	41244441	TCTTTAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3226&base_change=del TTAAAG,ClinGen:CA002032
Deletion	NM_007294.4(BRCA1):c.3108del (p.Phe1036fs)	BRCA1	Pathogenic	17	41244440	41244440	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3227&base_change=del T,ClinGen:CA002034