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
Insertion	NM_007294.4(BRCA1):c.3109_3110insT (p.Lys1037fs)	BRCA1	Pathogenic	17	41244438	41244439	T	TA	reviewed by expert panel	ClinGen:CA10589784
Duplication	NM_007294.4(BRCA1):c.3087_3100dup (p.Asn1034fs)	BRCA1	Pathogenic	17	41244447	41244448	T	TTTTCTCTAATGTTA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3219&base_change=ins TAACATTAGAGAAA,ClinGen:CA002030
Duplication	NM_007294.4(BRCA1):c.3024dup (p.Ser1009fs)	BRCA1	Pathogenic	17	41244523	41244524	A	AC	reviewed by expert panel	ClinGen:CA10589786
Deletion	NM_007294.4(BRCA1):c.3020_3023del (p.Ser1007fs)	BRCA1	Pathogenic	17	41244525	41244528	CATTG	C	reviewed by expert panel	ClinGen:CA10589787
single nucleotide variant	NM_007294.4(BRCA1):c.3010G>T (p.Glu1004Ter)	BRCA1	Pathogenic	17	41244538	41244538	C	A	reviewed by expert panel	ClinGen:CA10589788
Deletion	NM_007294.4(BRCA1):c.3006_3009del (p.Asn1002fs)	BRCA1	Pathogenic	17	41244539	41244542	CAAAG	C	reviewed by expert panel	ClinGen:CA10589789
Deletion	NM_007294.4(BRCA1):c.2981del (p.Cys994fs)	BRCA1	Pathogenic	17	41244567	41244567	AC	A	reviewed by expert panel	ClinGen:CA10589790
single nucleotide variant	NM_007294.4(BRCA1):c.2971A>T (p.Lys991Ter)	BRCA1	Pathogenic	17	41244577	41244577	T	A	reviewed by expert panel	ClinGen:CA10589791
Deletion	NM_007294.4(BRCA1):c.2970del (p.Thr992fs)	BRCA1	Pathogenic	17	41244578	41244578	TA	T	reviewed by expert panel	ClinGen:CA10589792
Duplication	NM_007294.4(BRCA1):c.2960dup (p.Ser988fs)	BRCA1	Pathogenic	17	41244587	41244588	C	CT	reviewed by expert panel	ClinGen:CA10589793