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.798del (p.Phe266fs)	BRCA2	Pathogenic	13	32906411	32906411	AT	A	reviewed by expert panel	ClinGen:CA10589052
Duplication	NM_000059.4(BRCA2):c.805dup (p.Thr269fs)	BRCA2	Pathogenic	13	32906415	32906416	G	GA	reviewed by expert panel	ClinGen:CA10589053
Duplication	NM_000059.4(BRCA2):c.831dup (p.Ser278Ter)	BRCA2	Pathogenic	13	32906445	32906446	A	AT	reviewed by expert panel	ClinGen:CA10589054
Deletion	NM_000059.4(BRCA2):c.842_843del (p.Asp281fs)	BRCA2	Pathogenic	13	32906457	32906458	GAC	G	reviewed by expert panel	ClinGen:CA10589055
Deletion	NM_000059.4(BRCA2):c.884del (p.Val295fs)	BRCA2	Pathogenic	13	32906499	32906499	GT	G	reviewed by expert panel	ClinGen:CA10589057
Insertion	NM_000059.4(BRCA2):c.905_906insA (p.Ser303fs)	BRCA2	Pathogenic	13	32906520	32906521	C	CA	reviewed by expert panel	ClinGen:CA10589058
Insertion	NM_000059.4(BRCA2):c.919_920insT (p.Ser307fs)	BRCA2	Pathogenic	13	32906534	32906535	A	AT	reviewed by expert panel	ClinGen:CA10589059
Deletion	NM_000059.4(BRCA2):c.927del (p.Leu310fs)	BRCA2	Pathogenic	13	32906542	32906542	CA	C	reviewed by expert panel	ClinGen:CA10589060
Deletion	NM_000059.4(BRCA2):c.949del (p.Thr317fs)	BRCA2	Pathogenic	13	32906563	32906563	GA	G	reviewed by expert panel	ClinGen:CA10589061
Deletion	NM_000059.4(BRCA2):c.956del (p.Asn319fs)	BRCA2	Pathogenic	13	32906566	32906566	CA	C	reviewed by expert panel	ClinGen:CA10589062