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_000059.4(BRCA2):c.8463del (p.Ile2822fs)	BRCA2	Pathogenic	13	32944669	32944669	AT	A	reviewed by expert panel	ClinGen:CA025656
single nucleotide variant	NM_000059.4(BRCA2):c.8632+1G>T	BRCA2	Pathogenic	13	32945238	32945238	G	T	criteria provided, single submitter	ClinGen:CA025741
single nucleotide variant	NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter)	BRCA2	Pathogenic	13	32953536	32953536	T	A	reviewed by expert panel	ClinGen:CA025845
Deletion	NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)	BRCA2	Pathogenic/Likely pathogenic	13	32953906	32954031	GTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):9203&base_change=del 126,ClinGen:CA025906
single nucleotide variant	NM_000059.4(BRCA2):c.9256+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32954283	32954283	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026058
Deletion	NM_007294.4(BRCA1):c.1148_1149del (p.Asn383fs)	BRCA1	Pathogenic	17	41246399	41246400	CAT	C	reviewed by expert panel	ClinGen:CA000761
single nucleotide variant	NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)	BRCA1	Pathogenic	17	41246334	41246334	G	C	reviewed by expert panel	ClinGen:CA000798
Duplication	NM_007294.4(BRCA1):c.130dup (p.Cys44fs)	BRCA1	Pathogenic	17	41267746	41267747	C	CA	reviewed by expert panel	ClinGen:CA000851
Deletion	NM_007294.4(BRCA1):c.1434del (p.Glu479fs)	BRCA1	Pathogenic	17	41246114	41246114	CA	C	reviewed by expert panel	ClinGen:CA000960
Deletion	NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs)	BRCA1	Pathogenic	17	41245968	41245969	CTT	C	reviewed by expert panel	ClinGen:CA001055