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_000059.4(BRCA2):c.6485_6486del (p.Lys2162fs)	BRCA2	Pathogenic	13	32914976	32914977	CAA	C	reviewed by expert panel	ClinGen:CA10589380
single nucleotide variant	NM_000059.4(BRCA2):c.6500T>A (p.Leu2167Ter)	BRCA2	Pathogenic	13	32914992	32914992	T	A	reviewed by expert panel	ClinGen:CA10589381
single nucleotide variant	NM_000059.4(BRCA2):c.6502G>T (p.Gly2168Ter)	BRCA2	Pathogenic	13	32914994	32914994	G	T	reviewed by expert panel	ClinGen:CA10589382
Duplication	NM_000059.4(BRCA2):c.6510dup (p.Val2171fs)	BRCA2	Pathogenic	13	32914999	32915000	C	CA	reviewed by expert panel	ClinGen:CA10589383
Deletion	NM_000059.4(BRCA2):c.6514_6515del (p.Ser2172fs)	BRCA2	Pathogenic	13	32915006	32915007	GTC	G	reviewed by expert panel	ClinGen:CA10589384
single nucleotide variant	NM_000059.4(BRCA2):c.6515C>A (p.Ser2172Ter)	BRCA2	Pathogenic	13	32915007	32915007	C	A	reviewed by expert panel	ClinGen:CA10589385
Duplication	NM_000059.3(BRCA2):c.6528_6535dup (p.Val2179fs)	BRCA2	Pathogenic	13	32915019	32915020	A	ACATTCATG	reviewed by expert panel	ClinGen:CA10589386
Duplication	NM_000059.4(BRCA2):c.6531dup (p.His2178fs)	BRCA2	Pathogenic	13	32915021	32915022	A	AT	reviewed by expert panel	ClinGen:CA10589387
Insertion	NM_000059.4(BRCA2):c.6532_6533insT (p.His2178fs)	BRCA2	Pathogenic	13	32915024	32915025	C	CT	reviewed by expert panel	ClinGen:CA10589388
Insertion	NM_000059.4(BRCA2):c.6536_6537insA (p.Leu2180fs)	BRCA2	Pathogenic	13	32915028	32915029	T	TA	reviewed by expert panel	ClinGen:CA10589389