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.7987del (p.Glu2663fs)	BRCA2	Pathogenic	13	32937325	32937325	CG	C	reviewed by expert panel	ClinGen:CA10589462
Deletion	NM_000059.4(BRCA2):c.8008_8030del (p.Ser2670fs)	BRCA2	Pathogenic	13	32937345	32937367	AGATCGGCTATAAAAAAGATAATG	A	reviewed by expert panel	ClinGen:CA10589463
Duplication	NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs)	BRCA2	Pathogenic	13	32937354	32937355	T	TA	reviewed by expert panel	ClinGen:CA10589464
Insertion	NM_000059.4(BRCA2):c.8049_8050insT (p.Lys2684Ter)	BRCA2	Pathogenic	13	32937388	32937389	A	AT	reviewed by expert panel	ClinGen:CA10589465
Deletion	NM_000059.4(BRCA2):c.8056del (p.Val2687fs)	BRCA2	Pathogenic	13	32937395	32937395	AC	A	reviewed by expert panel	ClinGen:CA10589466
Insertion	NM_000059.4(BRCA2):c.8067_8068insTT (p.Val2690fs)	BRCA2	Pathogenic	13	32937405	32937406	G	GTT	reviewed by expert panel	ClinGen:CA10589467
Duplication	NM_000059.4(BRCA2):c.8113dup (p.Ser2705fs)	BRCA2	Pathogenic	13	32937451	32937452	T	TA	reviewed by expert panel	ClinGen:CA10589468
Duplication	NM_000059.4(BRCA2):c.8160_8196dup (p.Asp2733delinsThrTyrArgTrpValValCysCysTer)	BRCA2	Pathogenic	13	32937497	32937498	G	GAACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTT	reviewed by expert panel	ClinGen:CA10589469
Deletion	NM_000059.4(BRCA2):c.8164del (p.Thr2722fs)	BRCA2	Pathogenic	13	32937503	32937503	TA	T	reviewed by expert panel	ClinGen:CA10589470
single nucleotide variant	NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter)	BRCA2	Pathogenic	13	32937534	32937534	T	A	reviewed by expert panel	ClinGen:CA10589471