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.8969G>A (p.Trp2990Ter)	BRCA2	Pathogenic	13	32953902	32953902	G	A	reviewed by expert panel	ClinGen:CA025903
Insertion	NM_000059.4(BRCA2):c.9066_9067insAA (p.Ala3023fs)	BRCA2	Pathogenic	13	32953998	32953999	G	GAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9294&base_change=ins AA,ClinGen:CA025956
Duplication	NM_000059.4(BRCA2):c.9098dup (p.Gln3034fs)	BRCA2	Pathogenic	13	32954030	32954031	A	AC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9326&base_change=ins C,ClinGen:CA025973
single nucleotide variant	NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)	BRCA2	Pathogenic	13	32954253	32954253	G	T	reviewed by expert panel	ClinGen:CA026041
Insertion	NM_000059.4(BRCA2):c.9384_9385insG (p.Pro3129fs)	BRCA2	Pathogenic	13	32968953	32968954	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9612&base_change=ins G,ClinGen:CA026129
Duplication	NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)	BRCA2	Pathogenic	13	32972321	32972322	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9900&base_change=ins A,ClinGen:CA026263,OMIM:600185.0019
single nucleotide variant	NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)	PALB2	Pathogenic	16	23646840	23646840	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA151215,OMIM:610355.0011
Deletion	NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)	PALB2	Pathogenic	16	23646814	23646817	CTGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA151218
Deletion	NM_024675.4(PALB2):c.1317del (p.Phe440fs)	PALB2	Pathogenic	16	23646550	23646550	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294076
Deletion	NM_024675.4(PALB2):c.1479del (p.Thr494fs)	PALB2	Pathogenic	16	23646388	23646388	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165295