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.4780del (p.Met1594fs)	BRCA2	Pathogenic	13	32913270	32913270	GA	G	reviewed by expert panel	ClinGen:CA020827
Deletion	NM_000059.4(BRCA2):c.4797del (p.Asn1599fs)	BRCA2	Pathogenic	13	32913289	32913289	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5025&base_change=del T,ClinGen:CA020842
Deletion	NM_000059.4(BRCA2):c.4808del (p.Asn1603fs)	BRCA2	Pathogenic	13	32913296	32913296	TA	T	reviewed by expert panel	ClinGen:CA020858
Duplication	NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs)	BRCA2	Pathogenic	13	32913295	32913296	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5036&base_change=ins A,ClinGen:CA020855
Duplication	NM_000059.4(BRCA2):c.4828dup (p.Val1610fs)	BRCA2	Pathogenic	13	32913319	32913320	T	TG	reviewed by expert panel	ClinGen:CA020877
Deletion	NM_000059.4(BRCA2):c.4848_4849del (p.Leu1616_Ser1617insTer)	BRCA2	Pathogenic	13	32913340	32913341	TAA	T	reviewed by expert panel	ClinGen:CA020906
single nucleotide variant	NM_000059.4(BRCA2):c.4859T>G (p.Leu1620Ter)	BRCA2	Pathogenic	13	32913351	32913351	T	G	reviewed by expert panel	ClinGen:CA020929
single nucleotide variant	NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter)	BRCA2	Pathogenic	13	32913381	32913381	C	A	reviewed by expert panel	ClinGen:CA020952
single nucleotide variant	NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)	BRCA2	Pathogenic	13	32913381	32913381	C	G	reviewed by expert panel	ClinGen:CA020955
Deletion	NM_000059.4(BRCA2):c.488_489del (p.Ser163fs)	BRCA2	Pathogenic	13	32900391	32900392	AGT	A	reviewed by expert panel	ClinGen:CA020947