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
Duplication	NM_007294.4(BRCA1):c.1194dup (p.His399fs)	BRCA1	Pathogenic	17	41246353	41246354	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs)	BRCA1	Pathogenic	17	41246538	41246539	TTC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.424_431del (p.Pro142fs)	BRCA1	Pathogenic	17	41256149	41256156	ATTTTCGGG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.374dup (p.Gln126fs)	BRCA1	Pathogenic	17	41256205	41256206	G	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.106_109del (p.Ser36fs)	BRCA2	Pathogenic	13	32893249	32893252	ACTTT	A	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.223_224insA (p.Ala75fs)	BRCA2	Pathogenic	13	32893369	32893370	G	GA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.275_276insCCAT (p.Gln92fs)	BRCA2	Pathogenic	13	32893421	32893422	A	ACCAT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.465_466insT (p.Asp156Ter)	BRCA2	Pathogenic	13	32900277	32900278	A	AT	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.468dup (p.Lys157Ter)	BRCA2	Pathogenic	13	32900279	32900280	A	AT	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.488dup (p.Ser163fs)	BRCA2	Pathogenic	13	32900390	32900391	A	AG	reviewed by expert panel	-