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.2760del (p.Gln921fs)	BRCA1	Pathogenic	17	41244788	41244788	GT	G	reviewed by expert panel	ClinGen:CA16620434
Insertion	NM_007294.4(BRCA1):c.2754_2755insGGGTG (p.Pro919fs)	BRCA1	Pathogenic	17	41244793	41244794	G	GCACCC	criteria provided, single submitter	ClinGen:CA16620435
Deletion	NM_007294.4(BRCA1):c.2707del (p.Cys903fs)	BRCA1	Pathogenic	17	41244841	41244841	CA	C	reviewed by expert panel	ClinGen:CA16620436
Deletion	NM_007294.4(BRCA1):c.2467del (p.Arg823fs)	BRCA1	Pathogenic	17	41245081	41245081	CT	C	reviewed by expert panel	ClinGen:CA16620438
Deletion	NM_007294.4(BRCA1):c.2185del (p.Glu729fs)	BRCA1	Pathogenic	17	41245363	41245363	TC	T	reviewed by expert panel	ClinGen:CA16620439
Deletion	NM_007294.4(BRCA1):c.1277del (p.Ser425_Ser426insTer)	BRCA1	Pathogenic	17	41246271	41246271	TG	T	reviewed by expert panel	ClinGen:CA16620441
Indel	NM_007294.4(BRCA1):c.891_896delinsTC (p.Met297fs)	BRCA1	Pathogenic	17	41246652	41246657	ACATTC	GA	reviewed by expert panel	ClinGen:CA16620442
Indel	NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer)	BRCA1	Pathogenic	17	41256189	41256191	TGT	AGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620446
Duplication	NM_007294.4(BRCA1):c.310dup (p.Ser104fs)	BRCA1	Pathogenic	17	41256269	41256270	C	CT	reviewed by expert panel	ClinGen:CA16620447
Duplication	NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs)	PALB2	Pathogenic/Likely pathogenic	16	23641749	23641750	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509224