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.984_988del (p.Cys328_Asp330delinsTer)	BRCA1	Pathogenic	17	41246560	41246564	TCATTA	T	reviewed by expert panel	ClinGen:CA003998
Deletion	NM_007294.4(BRCA1):c.885_886del (p.Asp295fs)	BRCA1	Pathogenic	17	41246662	41246663	CTG	C	reviewed by expert panel	ClinGen:CA003946
Deletion	NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs)	BRCA2	Pathogenic	13	32914215	32914219	CTAGAT	C	reviewed by expert panel	ClinGen:CA023049
Indel	NM_000059.4(BRCA2):c.5595_5596delinsC (p.Phe1866fs)	BRCA2	Pathogenic	13	32914087	32914088	AT	C	reviewed by expert panel	ClinGen:CA280073
Deletion	NM_007294.4(BRCA1):c.594_597delTGTG	BRCA1	Pathogenic/Likely pathogenic	17	41247936	41247939	CCACA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA276117,OMIM:113705.0041
single nucleotide variant	NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)	CDKN2A	Pathogenic/Likely pathogenic	9	21970901	21970901	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA337714
Deletion	NM_000059.4(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del	BRCA2	Pathogenic	13	32915334	32928997	na	na	criteria provided, single submitter	LOVD 3:BRCA2_002466
single nucleotide variant	NM_000059.4(BRCA2):c.1A>G (p.Met1Val)	BRCA2	Pathogenic	13	32890598	32890598	A	G	criteria provided, single submitter	ClinGen:CA335967
Deletion	NM_000059.4(BRCA2):c.67+2del	BRCA2	Likely pathogenic	13	32890666	32890666	GT	G	criteria provided, single submitter	ClinGen:CA335821
Deletion	NM_000059.4(BRCA2):c.4176del (p.Ala1393fs)	BRCA2	Pathogenic	13	32912667	32912667	GT	G	reviewed by expert panel	ClinGen:CA335700