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.4965del (p.Cys1654_Tyr1655insTer)	BRCA2	Pathogenic	13	32913457	32913457	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5193&base_change=del C,ClinGen:CA021074
Deletion	NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs)	BRCA2	Pathogenic	13	32913476	32913479	TTCAG	T	reviewed by expert panel	ClinGen:CA021107
Duplication	NM_000059.4(BRCA2):c.4999dup (p.Ser1667fs)	BRCA2	Pathogenic	13	32913489	32913490	A	AT	reviewed by expert panel	ClinGen:CA021117
Duplication	NM_000059.4(BRCA2):c.5014dup (p.Tyr1672fs)	BRCA2	Pathogenic	13	32913501	32913502	C	CT	reviewed by expert panel	ClinGen:CA021132
Deletion	NM_000059.4(BRCA2):c.5045del (p.Ser1682fs)	BRCA2	Pathogenic	13	32913537	32913537	AG	A	reviewed by expert panel	ClinGen:CA021174
Indel	NM_000059.4(BRCA2):c.5065_5066delinsAAA (p.Ala1689fs)	BRCA2	Pathogenic	13	32913557	32913558	GC	AAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5293&base_change=del GC ins AAA,ClinGen:CA021195
Deletion	NM_000059.4(BRCA2):c.5073del (p.Lys1691fs)	BRCA2	Pathogenic	13	32913559	32913559	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5301&base_change=del A,ClinGen:CA021210
Insertion	NM_000059.4(BRCA2):c.5086_5087insA (p.Gly1696fs)	BRCA2	Pathogenic	13	32913578	32913579	G	GA	reviewed by expert panel	ClinGen:CA021230
single nucleotide variant	NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)	BRCA2	Pathogenic	13	32913593	32913593	C	T	reviewed by expert panel	ClinGen:CA021256
single nucleotide variant	NM_000059.4(BRCA2):c.5107G>T (p.Glu1703Ter)	BRCA2	Pathogenic	13	32913599	32913599	G	T	reviewed by expert panel	ClinGen:CA021274