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
Deletion	NM_007294.4(BRCA1):c.3365_3366del (p.Thr1122fs)	BRCA1	Pathogenic	17	41244182	41244183	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3484&base_change=del CA,ClinGen:CA002184
Deletion	NM_007294.4(BRCA1):c.3377del (p.Pro1126fs)	BRCA1	Pathogenic	17	41244171	41244171	TG	T	reviewed by expert panel	ClinGen:CA002189
Deletion	NM_007294.4(BRCA1):c.3390del (p.Asp1131fs)	BRCA1	Pathogenic	17	41244158	41244158	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3509&base_change=del A,ClinGen:CA002192
Deletion	NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs)	BRCA1	Pathogenic	17	41244150	41244151	TAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3516&base_change=del TT,ClinGen:CA002195
single nucleotide variant	NM_007294.4(BRCA1):c.3398T>A (p.Leu1133Ter)	BRCA1	Pathogenic	17	41244150	41244150	A	T	reviewed by expert panel	ClinGen:CA002196
single nucleotide variant	NM_007294.4(BRCA1):c.3398T>G (p.Leu1133Ter)	BRCA1	Pathogenic	17	41244150	41244150	A	C	reviewed by expert panel	ClinGen:CA002197
single nucleotide variant	NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)	BRCA1	Pathogenic	17	41244145	41244145	G	A	reviewed by expert panel	ClinGen:CA002200
Deletion	NM_007294.4(BRCA1):c.3413del (p.Gly1138fs)	BRCA1	Pathogenic	17	41244135	41244135	TC	T	reviewed by expert panel	ClinGen:CA002206
Deletion	NM_007294.4(BRCA1):c.3416del (p.Ser1139fs)	BRCA1	Pathogenic	17	41244132	41244132	AC	A	reviewed by expert panel	ClinGen:CA002208
Deletion	NM_007294.4(BRCA1):c.3417del (p.Ser1139fs)	BRCA1	Pathogenic	17	41244131	41244131	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3536&base_change=del T,ClinGen:CA002210