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
Insertion	NM_000059.4(BRCA2):c.566_567insG (p.Asp189fs)	BRCA2	Pathogenic	13	32900685	32900686	A	AG	reviewed by expert panel	ClinGen:CA10589032
Deletion	NM_000059.4(BRCA2):c.568_575del (p.Pro190fs)	BRCA2	Pathogenic	13	32900685	32900692	GATCCTGAT	G	reviewed by expert panel	ClinGen:CA10589033
Insertion	NM_000059.4(BRCA2):c.569_570insAACG (p.Asp191fs)	BRCA2	Pathogenic	13	32900688	32900689	C	CAACG	reviewed by expert panel	ClinGen:CA10589034
Deletion	NM_000059.4(BRCA2):c.583del (p.Ser195fs)	BRCA2	Pathogenic	13	32900702	32900702	GT	G	reviewed by expert panel	ClinGen:CA10589035
Duplication	NM_000059.4(BRCA2):c.594_598dup (p.Thr200fs)	BRCA2	Pathogenic	13	32900712	32900713	T	TAGCTA	reviewed by expert panel	ClinGen:CA10589036
Deletion	NM_000059.4(BRCA2):c.595_598del (p.Ala199fs)	BRCA2	Pathogenic	13	32900712	32900715	TTAGC	T	reviewed by expert panel	ClinGen:CA10589037
Insertion	NM_000059.4(BRCA2):c.613_614insTGAG (p.Ser205fs)	BRCA2	Pathogenic	13	32900732	32900733	A	ATGAG	reviewed by expert panel	ClinGen:CA10589038
single nucleotide variant	NM_000059.4(BRCA2):c.643G>T (p.Glu215Ter)	BRCA2	Pathogenic	13	32903591	32903591	G	T	reviewed by expert panel	ClinGen:CA10589039
Deletion	NM_000059.4(BRCA2):c.664_665del (p.Pro222fs)	BRCA2	Pathogenic	13	32903612	32903613	TCC	T	reviewed by expert panel	ClinGen:CA10589040
Duplication	NM_000059.4(BRCA2):c.694dup (p.Tyr232fs)	BRCA2	Pathogenic	13	32905067	32905068	C	CT	reviewed by expert panel	ClinGen:CA10589041