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_007294.4(BRCA1):c.1292_1295del (p.Leu431fs)	BRCA1	Pathogenic	17	41246253	41246256	CAGTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684119
Duplication	NM_007294.4(BRCA1):c.849dup (p.Gln284fs)	BRCA1	Pathogenic	17	41246698	41246699	G	GT	criteria provided, single submitter	ClinGen:CA658684121
single nucleotide variant	NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)	BRCA1	Pathogenic	17	41244839	41244839	A	T	criteria provided, single submitter	ClinGen:CA10596579,OMIM:113705.0042
single nucleotide variant	NM_000059.4(BRCA2):c.1103C>G (p.Ser368Ter)	BRCA2	Pathogenic	13	32906718	32906718	C	G	reviewed by expert panel	ClinGen:CA387761567
Deletion	NM_000059.4(BRCA2):c.2176del (p.Val726fs)	BRCA2	Pathogenic/Likely pathogenic	13	32910668	32910668	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683818
Insertion	NM_000059.4(BRCA2):c.2687_2688insGA (p.Asn896fs)	BRCA2	Likely pathogenic	13	32911178	32911179	A	AAG	criteria provided, single submitter	ClinGen:CA658683842
Deletion	NM_000059.4(BRCA2):c.2989_2990del (p.Leu997fs)	BRCA2	Likely pathogenic	13	32911481	32911482	CTT	C	criteria provided, single submitter	ClinGen:CA658683853
single nucleotide variant	NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32929409	32929409	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387741973
Deletion	NM_000059.4(BRCA2):c.9766_9770del (p.Glu3256fs)	BRCA2	Likely pathogenic	13	32972416	32972420	GGAGAA	G	criteria provided, single submitter	ClinGen:CA658683834
single nucleotide variant	NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32906817	32906817	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387762066