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.832dup (p.Thr278fs)	BRCA1	Pathogenic	17	41246715	41246716	G	GT	reviewed by expert panel	ClinGen:CA10589988
Deletion	NM_007294.4(BRCA1):c.829_830del (p.Asn277fs)	BRCA1	Pathogenic	17	41246718	41246719	ATT	A	reviewed by expert panel	ClinGen:CA10589989
Duplication	NM_007294.4(BRCA1):c.807_817dup (p.Pro273fs)	BRCA1	Pathogenic	17	41246730	41246731	G	GGCTCCACATGC	reviewed by expert panel	ClinGen:CA10589990
Insertion	NM_007294.4(BRCA1):c.815_816insTCCATGTGGA (p.Glu272fs)	BRCA1	Pathogenic	17	41246732	41246733	C	CTCCACATGGA	reviewed by expert panel	ClinGen:CA10589991
single nucleotide variant	NM_007294.4(BRCA1):c.814G>T (p.Glu272Ter)	BRCA1	Pathogenic	17	41246734	41246734	C	A	reviewed by expert panel	ClinGen:CA10589992
Duplication	NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer)	BRCA1	Pathogenic	17	41246759	41246760	A	AC	reviewed by expert panel	ClinGen:CA10589993
Deletion	NM_007294.4(BRCA1):c.784del (p.Gln262fs)	BRCA1	Pathogenic	17	41246764	41246764	TG	T	reviewed by expert panel	ClinGen:CA10589994
Duplication	NM_007294.4(BRCA1):c.778_779dup (p.Tyr261fs)	BRCA1	Pathogenic	17	41246768	41246769	C	CTT	reviewed by expert panel	ClinGen:CA10589995
Insertion	NM_007294.4(BRCA1):c.743_744insA (p.Thr249fs)	BRCA1	Pathogenic	17	41246804	41246805	G	GT	reviewed by expert panel	ClinGen:CA10589997
Insertion	NM_007294.4(BRCA1):c.729_730insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244fs)	BRCA1	Pathogenic	17	41246818	41246819	T	TTACTGGGTTGATGATGTTCAGTATTTGTTAC	reviewed by expert panel	ClinGen:CA10589998