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.6052_6053del (p.Lys2017_Ser2018insTer)	BRCA2	Pathogenic	13	32914544	32914545	AAG	A	reviewed by expert panel	ClinGen:CA10589349
Deletion	NM_000059.4(BRCA2):c.6067_6076del (p.Asp2023fs)	BRCA2	Pathogenic	13	32914556	32914565	TTCAGACCAGC	T	reviewed by expert panel	ClinGen:CA10589350
Duplication	NM_000059.4(BRCA2):c.6081dupA	BRCA2	Pathogenic	13	32914572	32914573	G	GA	reviewed by expert panel	ClinGen:CA10589351
Deletion	NM_000059.4(BRCA2):c.6085_6089del (p.Glu2029fs)	BRCA2	Pathogenic	13	32914575	32914579	GAAGAA	G	reviewed by expert panel	ClinGen:CA10589353
Deletion	NM_000059.4(BRCA2):c.6099del (p.Arg2034fs)	BRCA2	Pathogenic	13	32914591	32914591	TA	T	reviewed by expert panel	ClinGen:CA10589354
Deletion	NM_000059.4(BRCA2):c.6129del (p.Gly2044fs)	BRCA2	Pathogenic	13	32914617	32914617	CA	C	reviewed by expert panel	ClinGen:CA10589355
Deletion	NM_000059.4(BRCA2):c.6137_6138del (p.Ser2046fs)	BRCA2	Pathogenic	13	32914629	32914630	TCA	T	reviewed by expert panel	ClinGen:CA10589356
Deletion	NM_000059.4(BRCA2):c.6145del (p.Val2049fs)	BRCA2	Pathogenic	13	32914637	32914637	TG	T	reviewed by expert panel	ClinGen:CA10589357
single nucleotide variant	NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter)	BRCA2	Pathogenic	13	32914647	32914647	C	G	reviewed by expert panel	ClinGen:CA10589358
Deletion	NM_000059.4(BRCA2):c.6199del (p.Ser2067fs)	BRCA2	Pathogenic	13	32914689	32914689	GT	G	reviewed by expert panel	ClinGen:CA10589359