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
single nucleotide variant	NM_000059.4(BRCA2):c.8707G>T (p.Glu2903Ter)	BRCA2	Pathogenic	13	32950881	32950881	G	T	reviewed by expert panel	ClinGen:CA387754889
Duplication	NM_000059.4(BRCA2):c.9183dup (p.Asp3062fs)	BRCA2	Pathogenic	13	32954208	32954209	T	TA	reviewed by expert panel	ClinGen:CA658653815
Insertion	NM_000059.4(BRCA2):c.9194_9195insA (p.Phe3065fs)	BRCA2	Pathogenic	13	32954220	32954221	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653816
Deletion	NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs)	BRCA1	Pathogenic	17	41223096	41223097	CTG	C	reviewed by expert panel	ClinGen:CA658653684
single nucleotide variant	NM_007294.4(BRCA1):c.4676-1G>C	BRCA1	Likely pathogenic	17	41223256	41223256	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10592156
single nucleotide variant	NM_007294.4(BRCA1):c.4088C>A (p.Ser1363Ter)	BRCA1	Pathogenic	17	41243460	41243460	G	T	reviewed by expert panel	ClinGen:CA10593781
Deletion	NM_007294.4(BRCA1):c.3637del (p.Glu1213fs)	BRCA1	Pathogenic	17	41243911	41243911	TC	T	reviewed by expert panel	ClinGen:CA658653693
single nucleotide variant	NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter)	BRCA1	Pathogenic	17	41244352	41244352	C	A	reviewed by expert panel	ClinGen:CA10595591
Deletion	NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs)	BRCA1	Pathogenic	17	41244584	41244588	ATGACT	A	reviewed by expert panel	ClinGen:CA658653687
Deletion	NM_007294.4(BRCA1):c.2796del (p.Gly933fs)	BRCA1	Pathogenic	17	41244752	41244752	CA	C	reviewed by expert panel	ClinGen:CA658653688