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.8946del (p.Asp2983fs)	BRCA2	Pathogenic	13	32953641	32953641	GA	G	reviewed by expert panel	ClinGen:CA025884
Deletion	NM_000059.4(BRCA2):c.8950del (p.Ser2984fs)	BRCA2	Pathogenic	13	32953648	32953648	AT	A	reviewed by expert panel	ClinGen:CA025885
single nucleotide variant	NM_000059.4(BRCA2):c.8953+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32953653	32953653	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025889
Duplication	NM_000059.4(BRCA2):c.8956dup (p.Ile2986fs)	BRCA2	Pathogenic	13	32953888	32953889	T	TA	reviewed by expert panel	ClinGen:CA025898
Deletion	NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)	BRCA2	Pathogenic	13	32953893	32953896	CTGAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9189&base_change=del GAGT,ClinGen:CA025901
single nucleotide variant	NM_000059.4(BRCA2):c.8970G>A (p.Trp2990Ter)	BRCA2	Pathogenic	13	32953903	32953903	G	A	reviewed by expert panel	ClinGen:CA025904
single nucleotide variant	NM_000059.4(BRCA2):c.8978C>A (p.Ser2993Ter)	BRCA2	Pathogenic	13	32953911	32953911	C	A	reviewed by expert panel	ClinGen:CA025910
Deletion	NM_000059.4(BRCA2):c.8978_8991del (p.Ser2993fs)	BRCA2	Pathogenic	13	32953909	32953922	CATCATCAGATTTAT	C	reviewed by expert panel	ClinGen:CA025907
Insertion	NM_000059.4(BRCA2):c.897_898insC (p.Val300fs)	BRCA2	Pathogenic	13	32906512	32906513	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1125&base_change=ins C,ClinGen:CA025909
Deletion	NM_000059.4(BRCA2):c.8980_8983del (p.Ser2994fs)	BRCA2	Pathogenic	13	32953913	32953916	ATCAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9208&base_change=del TCAG,ClinGen:CA025913