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.3765del (p.Asn1255fs)	BRCA1	Pathogenic	17	41243783	41243783	TG	T	reviewed by expert panel	ClinGen:CA10589724
Deletion	NM_007294.4(BRCA1):c.3756_3760del (p.Ser1253fs)	BRCA1	Pathogenic	17	41243788	41243792	TTAGAC	T	reviewed by expert panel	ClinGen:CA10589725
Deletion	NM_007294.4(BRCA1):c.3750del (p.Glu1250fs)	BRCA1	Pathogenic	17	41243798	41243798	AC	A	reviewed by expert panel	ClinGen:CA10589726
Deletion	NM_007294.4(BRCA1):c.3731_3743del (p.His1244fs)	BRCA1	Pathogenic	17	41243805	41243817	AGCAACGGTGCTAT	A	reviewed by expert panel	ClinGen:CA10589727
Deletion	NM_007294.4(BRCA1):c.3731_3738del (p.His1244fs)	BRCA1	Pathogenic	17	41243810	41243817	CGGTGCTAT	C	reviewed by expert panel	ClinGen:CA10589728
single nucleotide variant	NM_007294.4(BRCA1):c.3679C>T (p.Gln1227Ter)	BRCA1	Pathogenic	17	41243869	41243869	G	A	reviewed by expert panel	ClinGen:CA10589729
Deletion	NM_007294.4(BRCA1):c.3669del (p.Cys1225fs)	BRCA1	Pathogenic	17	41243879	41243879	GA	G	reviewed by expert panel	ClinGen:CA10589730
Duplication	NM_007294.4(BRCA1):c.3651dup (p.Ser1218Ter)	BRCA1	Pathogenic	17	41243896	41243897	T	TA	reviewed by expert panel	ClinGen:CA10589731
Deletion	NM_007294.4(BRCA1):c.3631_3634del (p.Ser1211fs)	BRCA1	Pathogenic	17	41243914	41243917	GAGGA	G	reviewed by expert panel	ClinGen:CA10589732
Insertion	NM_007294.4(BRCA1):c.3625_3626insA (p.Leu1209fs)	BRCA1	Pathogenic	17	41243922	41243923	A	AT	reviewed by expert panel	ClinGen:CA10589733