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.2880del (p.Lys960fs)	BRCA2	Pathogenic	13	32911372	32911372	AG	A	reviewed by expert panel	ClinGen:CA10589177
Duplication	NM_000059.4(BRCA2):c.2896dup (p.Thr966fs)	BRCA2	Pathogenic	13	32911387	32911388	G	GA	reviewed by expert panel	ClinGen:CA10589178
Deletion	NM_000059.4(BRCA2):c.2945del (p.Ile982fs)	BRCA2	Pathogenic	13	32911437	32911437	AT	A	reviewed by expert panel	ClinGen:CA10589179
Deletion	NM_000059.4(BRCA2):c.2954_2957del (p.Lys985fs)	BRCA2	Pathogenic	13	32911443	32911446	GAAAA	G	reviewed by expert panel	ClinGen:CA10589180
Duplication	NM_000059.4(BRCA2):c.2960dup (p.Asn987fs)	BRCA2	Pathogenic	13	32911450	32911451	T	TA	reviewed by expert panel	ClinGen:CA10589181
Deletion	NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs)	BRCA2	Pathogenic	13	32911462	32911474	TGAACAAATGGGCA	T	reviewed by expert panel	ClinGen:CA10589182
single nucleotide variant	NM_000059.4(BRCA2):c.2983G>T (p.Gly995Ter)	BRCA2	Pathogenic	13	32911475	32911475	G	T	reviewed by expert panel	ClinGen:CA10589183
single nucleotide variant	NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter)	BRCA2	Pathogenic	13	32911482	32911482	T	G	reviewed by expert panel	ClinGen:CA10589184
Duplication	NM_000059.4(BRCA2):c.3066dup (p.Asn1023Ter)	BRCA2	Pathogenic	13	32911557	32911558	A	AT	reviewed by expert panel	ClinGen:CA10589185
Deletion	NM_000059.4(BRCA2):c.3068del (p.Asn1023fs)	BRCA2	Pathogenic	13	32911559	32911559	TA	T	reviewed by expert panel	ClinGen:CA10589186