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.1411G>T (p.Glu471Ter)	BRCA2	Pathogenic	13	32907026	32907026	G	T	reviewed by expert panel	ClinGen:CA011958
single nucleotide variant	NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)	BRCA2	Pathogenic	13	32907029	32907029	C	T	reviewed by expert panel	ClinGen:CA011969
single nucleotide variant	NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)	BRCA2	Pathogenic	13	32907038	32907038	G	T	reviewed by expert panel	ClinGen:CA012001
Deletion	NM_000059.4(BRCA2):c.1444del (p.Ala483fs)	BRCA2	Pathogenic	13	32907059	32907059	TC	T	reviewed by expert panel	ClinGen:CA012060
Indel	NM_000059.4(BRCA2):c.1449_1451delinsTTAC (p.Val484fs)	BRCA2	Pathogenic	13	32907064	32907066	AGT	TTAC	reviewed by expert panel	ClinGen:CA012094
single nucleotide variant	NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)	BRCA2	Pathogenic	13	32907071	32907071	C	T	reviewed by expert panel	ClinGen:CA012111
single nucleotide variant	NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	BRCA2	Pathogenic	13	32893291	32893291	G	T	reviewed by expert panel	ClinGen:CA012123
Deletion	NM_000059.4(BRCA2):c.1496_1497del (p.Gln499fs)	BRCA2	Pathogenic	13	32907111	32907112	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1724&base_change=del AG,ClinGen:CA012219
Deletion	NM_000059.4(BRCA2):c.1499del (p.Gly500fs)	BRCA2	Pathogenic	13	32907112	32907112	AG	A	reviewed by expert panel	ClinGen:CA012235
Deletion	NM_000059.4(BRCA2):c.1511_1512del (p.Ser504fs)	BRCA2	Pathogenic	13	32907125	32907126	GTC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1739&base_change=del CT,ClinGen:CA012267