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_000059.4(BRCA2):c.4960dup (p.Cys1654fs)	BRCA2	Pathogenic	13	32913450	32913451	C	CT	reviewed by expert panel	ClinGen:CA10589279
Deletion	NM_000059.4(BRCA2):c.4981del (p.Tyr1661fs)	BRCA2	Pathogenic	13	32913472	32913472	CT	C	reviewed by expert panel	ClinGen:CA10589280
single nucleotide variant	NM_000059.4(BRCA2):c.4985C>G (p.Ser1662Ter)	BRCA2	Pathogenic	13	32913477	32913477	C	G	reviewed by expert panel	ClinGen:CA10589281
Deletion	NM_000059.4(BRCA2):c.5039_5040del (p.Ser1680fs)	BRCA2	Pathogenic	13	32913530	32913531	TTC	T	reviewed by expert panel	ClinGen:CA10589282
Deletion	NM_000059.4(BRCA2):c.5049_5050del (p.Gln1683fs)	BRCA2	Pathogenic	13	32913540	32913541	CAG	C	reviewed by expert panel	ClinGen:CA10589283
Deletion	NM_000059.4(BRCA2):c.5050_5065del (p.Thr1684fs)	BRCA2	Pathogenic	13	32913540	32913555	CAGACTTCATTACTTGA	C	reviewed by expert panel	ClinGen:CA10589284
Deletion	NM_000059.4(BRCA2):c.5110del (p.Arg1704fs)	BRCA2	Pathogenic	13	32913600	32913600	GA	G	reviewed by expert panel	ClinGen:CA10589285
Indel	NM_000059.4(BRCA2):c.5115_5119delinsG (p.Ile1705fs)	BRCA2	Pathogenic	13	32913607	32913611	AAATA	G	reviewed by expert panel	ClinGen:CA10589286
Deletion	NM_000059.4(BRCA2):c.5119_5122del (p.Thr1707fs)	BRCA2	Pathogenic	13	32913611	32913614	TACTG	T	reviewed by expert panel	ClinGen:CA10589287
Duplication	NM_000059.4(BRCA2):c.5119dup (p.Thr1707fs)	BRCA2	Pathogenic	13	32913610	32913611	T	TA	reviewed by expert panel	ClinGen:CA10589288