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.3861_3864del (p.Asn1287fs)	BRCA2	Pathogenic	13	32912353	32912356	ATAAT	A	reviewed by expert panel	ClinGen:CA10589227
Deletion	NM_000059.4(BRCA2):c.3866_3869del (p.Lys1289fs)	BRCA2	Pathogenic	13	32912358	32912361	AAATG	A	reviewed by expert panel	ClinGen:CA10589228
Duplication	NM_000059.4(BRCA2):c.3867dup (p.Cys1290fs)	BRCA2	Pathogenic	13	32912356	32912357	T	TA	reviewed by expert panel	ClinGen:CA10589229
single nucleotide variant	NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter)	BRCA2	Pathogenic	13	32912373	32912373	T	G	reviewed by expert panel	ClinGen:CA10589230
Deletion	NM_000059.4(BRCA2):c.3920_3941del (p.Glu1307fs)	BRCA2	Pathogenic	13	32912412	32912433	GAAGAAATTACTGAAAATTACAA	G	reviewed by expert panel	ClinGen:CA10589231
Deletion	NM_000059.4(BRCA2):c.3957_3958del (p.Asn1319fs)	BRCA2	Pathogenic	13	32912449	32912450	ATG	A	reviewed by expert panel	ClinGen:CA10589232
Deletion	NM_000059.4(BRCA2):c.3968_3971del (p.Lys1323fs)	BRCA2	Pathogenic	13	32912459	32912462	CAAAT	C	reviewed by expert panel	ClinGen:CA10589233
Deletion	NM_000059.4(BRCA2):c.3972_3975del (p.Lys1323_Tyr1324insTer)	BRCA2	Pathogenic	13	32912464	32912467	ATACT	A	reviewed by expert panel	ClinGen:CA10589235
Insertion	NM_000059.4(BRCA2):c.3978_3979insTTGC (p.Ala1327fs)	BRCA2	Pathogenic	13	32912470	32912471	T	TTTGC	reviewed by expert panel	ClinGen:CA10589236
Duplication	NM_000059.4(BRCA2):c.4021dup (p.Ser1341fs)	BRCA2	Pathogenic	13	32912511	32912512	A	AT	reviewed by expert panel	ClinGen:CA10589237