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.6225dup (p.Val2076fs)	BRCA2	Pathogenic	13	32914714	32914715	C	CA	reviewed by expert panel	ClinGen:CA10589360
single nucleotide variant	NM_000059.4(BRCA2):c.6244G>T (p.Glu2082Ter)	BRCA2	Pathogenic	13	32914736	32914736	G	T	reviewed by expert panel	ClinGen:CA10589361
Deletion	NM_000059.4(BRCA2):c.6246del (p.Glu2082fs)	BRCA2	Pathogenic	13	32914737	32914737	GA	G	reviewed by expert panel	ClinGen:CA10589362
Deletion	NM_000059.4(BRCA2):c.6258_6261del (p.Arg2087fs)	BRCA2	Pathogenic	13	32914750	32914753	TCAGA	T	reviewed by expert panel	ClinGen:CA10589363
Deletion	NM_000059.4(BRCA2):c.6260_6263del (p.Arg2087fs)	BRCA2	Pathogenic	13	32914752	32914755	AGAAC	A	reviewed by expert panel	ClinGen:CA10589364
Deletion	NM_000059.4(BRCA2):c.6262del (p.Thr2088fs)	BRCA2	Pathogenic	13	32914753	32914753	GA	G	reviewed by expert panel	ClinGen:CA10589365
Deletion	NM_000059.4(BRCA2):c.6267_6268del (p.Glu2089_His2090insTer)	BRCA2	Pathogenic	13	32914759	32914760	AGC	A	reviewed by expert panel	ClinGen:CA10589366
Deletion	NM_000059.4(BRCA2):c.6304_6305del (p.Val2102fs)	BRCA2	Pathogenic	13	32914795	32914796	ATG	A	reviewed by expert panel	ClinGen:CA10589367
Deletion	NM_000059.4(BRCA2):c.6313del (p.Ile2105fs)	BRCA2	Pathogenic	13	32914801	32914801	CA	C	reviewed by expert panel	ClinGen:CA10589368
Deletion	NM_000059.4(BRCA2):c.6320del (p.Pro2107fs)	BRCA2	Pathogenic	13	32914811	32914811	TC	T	reviewed by expert panel	ClinGen:CA10589369